# GO	NS	enrichment	name	ratio_in_study	ratio_in_pop	p_uncorrected	depth	study_count	p_fdr_bh	study_items
C0002736	XX	e	Amyotrophic lateral sclerosis	30/117	33/4277	1.2469209281910304e-45	n.a	30	9.484080579820975e-42	ALS2, ANG, ANXA11, CCNF, CHCHD10, DCTN1, ERBB4, FIG4, FUS, HNRNPA1, KIF5A, MAPT, MATR3, NEFH, OPTN, PFN1, PRPH, PSEN1, SETX, SIGMAR1, SOD1, SPG11, SQSTM1, TARDBP, TBK1, TRPM7, TUBA4A, UBQLN2, VAPB, VCP
C4024896	XX	e	Motor neuron atrophy	30/117	40/4277	1.6835957611615327e-40	n.a	30	6.402714679697309e-37	ALS2, ANG, ANXA11, CCNF, CHCHD10, DCTN1, ERBB4, FIG4, FUS, HNRNPA1, KIF5A, MAPT, MATR3, NEFH, OPTN, PFN1, PRPH, PSEN1, SETX, SIGMAR1, SOD1, SPG11, SQSTM1, TARDBP, TBK1, TRPM7, TUBA4A, UBQLN2, VAPB, VCP
C4025707	XX	e	Abnormal motor neuron morphology	31/117	50/4277	1.0366340360101688e-37	n.a	31	1.971159619473336e-34	ALS2, ANG, ANXA11, CCNF, CHCHD10, DCTN1, ERBB4, FIG4, FUS, GLE1, HNRNPA1, KIF5A, MAPT, MATR3, NEFH, OPTN, PFN1, PRPH, PSEN1, SETX, SIGMAR1, SOD1, SPG11, SQSTM1, TARDBP, TBK1, TRPM7, TUBA4A, UBQLN2, VAPB, VCP
C4022739	XX	e	Abnormal neuron morphology	31/117	50/4277	1.0366340360101688e-37	n.a	31	1.971159619473336e-34	ALS2, ANG, ANXA11, CCNF, CHCHD10, DCTN1, ERBB4, FIG4, FUS, GLE1, HNRNPA1, KIF5A, MAPT, MATR3, NEFH, OPTN, PFN1, PRPH, PSEN1, SETX, SIGMAR1, SOD1, SPG11, SQSTM1, TARDBP, TBK1, TRPM7, TUBA4A, UBQLN2, VAPB, VCP
C0338451	XX	e	Frontotemporal dementia	14/117	18/4277	1.6688344735606164e-19	n.a	14	2.53863100118041e-16	CCNF, CHCHD10, CHMP2B, DCTN1, GRN, HNRNPA2B1, MAPT, PSEN1, SQSTM1, TARDBP, TBK1, TUBA4A, UBQLN2, VCP
C0497327	XX	e	Dementia	26/117	127/4277	1.1680065622633642e-16	n.a	26	1.4806429854291914e-13	APOE, APP, ATXN2, CCNF, CHCHD10, CHMP2B, CP, CST3, DCTN1, GRN, HNRNPA2B1, HTT, MAPT, MATR3, NOS3, PSEN1, SNCA, SQSTM1, TARDBP, TBK1, TREM2, TRPM7, TTR, TUBA4A, UBQLN2, VCP
C0234985	XX	e	Mental deterioration	29/117	205/4277	4.8481267523771176e-14	n.a	29	5.2678360112257646e-11	APOE, APP, ATXN2, CCNF, CHCHD10, CHMP2B, CP, CST3, CTSD, DCTN1, GRN, HNRNPA2B1, HTT, MAPT, MATR3, MTHFR, NOS3, PSEN1, SNCA, SPG11, SQSTM1, TARDBP, TBK1, TREM2, TRPM7, TTR, TUBA4A, UBQLN2, VCP
C4024899	XX	e	Atrophy/Degeneration affecting the central nervous system	43/117	466/4277	6.313939944356299e-14	n.a	43	6.002978402096749e-11	ALS2, ANG, ANXA11, APOE, ATXN2, CCNF, CHCHD10, CHMP2B, CTSD, DCTN1, DHFR, ERBB4, FIG4, FUS, GLE1, GRN, HNRNPA1, HTT, KIF5A, MAPT, MATR3, NEFH, NEK1, OPTN, PFN1, PRKDC, PRKN, PRPH, PSEN1, SETX, SIGMAR1, SLC1A2, SOD1, SPG11, SQSTM1, TARDBP, TBK1, TREM2, TRPM7, TUBA4A, UBQLN2, VAPB, VCP
C0015644	XX	e	Fasciculations	16/117	52/4277	1.586015755875221e-13	n.a	16	1.3403595376874366e-10	AIFM1, ATXN2, CCNF, CHCHD10, DCTN1, FUS, NEFH, OPTN, PFN1, PRPH, SOD1, SPG11, SQSTM1, TBK1, VAPB, VCP
C1865412	XX	e	Abnormal lower motor neuron morphology	9/117	12/4277	1.2956810219087045e-12	n.a	9	9.854949852637607e-10	ALS2, DCTN1, MATR3, SETX, SIGMAR1, SPG11, SQSTM1, TBK1, TRPM7
C0011168	XX	e	Dysphagia	24/117	218/4277	2.2645780188635704e-09	n.a	24	1.5658527646796652e-06	ALS2, APOE, ATXN2, CHCHD10, DCTN1, HTT, KIF5A, MAPT, MATR3, NEFH, NEK1, OPTN, PFN1, PRPH, PSEN1, SETX, SNCA, SOD1, SPG11, SQSTM1, TARDBP, TBK1, UBQLN2, VAPB
C0242422	XX	e	Parkinsonism	14/117	80/4277	1.98897099932747e-08	n.a	14	1.2606761184070616e-05	APOE, APP, ATXN2, CHCHD10, DCTN1, GRN, KIF5A, MAPT, NOS3, PARK7, PRKN, PSEN1, SNCA, TRPM7
C0085632	XX	e	Apathy	8/117	21/4277	3.7323780910562185e-08	n.a	8	2.1663280396819596e-05	CHMP2B, DCTN1, GRN, MAPT, PSEN1, SQSTM1, TARDBP, TBK1
C0240735	XX	e	Personality changes	9/117	29/4277	3.9874562918153345e-08	n.a	9	2.1663280396819596e-05	APOE, ATXN2, CHMP2B, GRN, HTT, MAPT, PSEN1, SQSTM1, TBK1
C4022755	XX	e	Functional abnormality of the gastrointestinal tract	33/117	450/4277	5.301486191241185e-08	n.a	33	2.68820693137203e-05	ABCB1, ACTB, ALDOB, ALS2, APOE, ATXN2, CHCHD10, CREBBP, DCTN1, HTT, IL6, JAK3, KIF5A, MAPT, MATR3, NEFH, NEK1, OPTN, PFN1, PLA2G4A, PRPH, PSEN1, SETX, SNCA, SOD1, SPG11, SQSTM1, TARDBP, TBK1, UBQLN2, VAPB, VWF, XIAP
C0456814	XX	e	Diminished motivation	8/117	22/4277	5.7322026779636836e-08	n.a	8	2.721512882208467e-05	CHMP2B, DCTN1, GRN, MAPT, PSEN1, SQSTM1, TARDBP, TBK1
C0427086	XX	e	Involuntary movements	39/117	590/4277	6.082792400413349e-08	n.a	39	2.721512882208467e-05	AIFM1, APOE, ATXN2, CCNF, CHCHD10, CHMP2B, CP, CREBBP, DCTN1, DHFR, DLAT, FUS, GRIA3, GRN, HTT, KIF5A, MAPT, NEFH, OPTN, PARK7, PC, PFN1, PNP, PRKN, PRPH, PSEN1, SETX, SLC6A1, SNCA, SOD1, SPG11, SQSTM1, TARDBP, TBK1, TREM2, TTR, UBQLN2, VAPB, VCP
C0013362	XX	e	Dysarthria	27/117	325/4277	9.378620581298105e-08	n.a	27	3.962988230075188e-05	ALS2, APOE, ATXN2, CCNF, CHCHD10, CP, DCTN1, GLE1, MAPT, MATR3, NEFH, NEK1, OPTN, PFN1, PRPH, PSEN1, SETX, SNCA, SOD1, SPG11, SQSTM1, TARDBP, TBK1, TTR, UBQLN2, VAPB, VCP
C1850496	XX	e	Neuronal loss in central nervous system	9/117	34/4277	1.8612858842080846e-07	n.a	9	7.451021281729836e-05	ATXN2, CHMP2B, CTSD, FUS, GRN, HTT, MAPT, PSEN1, VAPB
C0234133	XX	e	Abnormality of extrapyramidal motor function	17/117	143/4277	2.162317601106844e-07	n.a	17	8.223293837009328e-05	APOE, APP, ATXN2, CHCHD10, CP, DCTN1, GRN, HTT, KIF5A, MAPT, NOS3, PARK7, PRKN, PSEN1, SNCA, SOD1, TRPM7
C0154681	XX	e	Abnormal anterior horn cell morphology	6/117	13/4277	5.41150498494061e-07	n.a	6	0.0001959995567402	DCTN1, GLE1, NEFH, PRPH, SETX, SOD1
C0002726	XX	e	Amyloidosis	7/117	21/4277	8.11074093784782e-07	n.a	7	0.0002794969981742	APOA1, APOE, APP, CST3, FGA, GSN, TTR
C0424296	XX	e	Disinhibition	9/117	40/4277	8.451789321598237e-07	n.a	9	0.0002794969981742	CHMP2B, CREBBP, GRN, MAPT, PSEN1, SQSTM1, TARDBP, TBK1, TREM2
C0026884	XX	e	Mutism	6/117	14/4277	9.259582825160922e-07	n.a	6	0.0002817135478726	CHMP2B, GLE1, GRN, MAPT, SQSTM1, TBK1
C4025704	XX	e	Abnormality of the corticospinal tract	6/117	14/4277	9.259582825160922e-07	n.a	6	0.0002817135478726	ALS2, DCTN1, NEFH, PRPH, SOD1, SPG11
C4021761	XX	e	Morphological abnormality of the pyramidal tract	8/117	32/4277	1.4993345955407173e-06	n.a	8	0.0004386130359108	ALS2, DCTN1, MAPT, NEFH, PRPH, SOD1, SPG11, VAPB
C4476684	XX	e	Abnormality of esophagus physiology	25/117	330/4277	1.7999620910399987e-06	n.a	25	0.0005070559875722	ALS2, APOE, ATXN2, CHCHD10, CREBBP, DCTN1, HTT, KIF5A, MAPT, MATR3, NEFH, NEK1, OPTN, PFN1, PRPH, PSEN1, SETX, SNCA, SOD1, SPG11, SQSTM1, TARDBP, TBK1, UBQLN2, VAPB
C1838320	XX	e	Hyperorality	4/117	5/4277	2.6060479581998238e-06	n.a	4	0.0007079143132167	CHMP2B, GRN, MAPT, PSEN1
C0151786	XX	e	Muscle weakness	33/117	531/4277	2.806591464115092e-06	n.a	33	0.0007361011957261	AIFM1, ALS2, ANG, CCNF, CHCHD10, DCTN1, DHFR, ERBB4, FIG4, GLE1, GRIA3, GSN, HADHA, HNRNPA1, KIF5A, MATR3, MTHFR, NEFH, OPTN, PFN1, PRPH, SETX, SIGMAR1, SOD1, SORD, SPG11, SQSTM1, TARDBP, TBK1, TRPM7, TTR, VAPB, VCP
C0541794	XX	e	Skeletal muscle atrophy	23/117	297/4277	3.476963315672225e-06	n.a	23	0.0008815260993	AIFM1, ALS2, ANG, ATXN2, CHCHD10, DCTN1, FIG4, FUS, GLE1, HNRNPA1, HNRNPA2B1, NEFH, PFN1, PRPH, SETX, SIGMAR1, SOD1, SPG11, SQSTM1, TARDBP, TBK1, VAPB, VCP
C4022149	XX	e	Cerebral inclusion bodies	8/117	37/4277	4.908023541083352e-06	n.a	8	0.0012042073243058	APOE, APP, ATXN2, GRN, MAPT, NOS3, PSEN1, SNCA
C1846566	XX	e	Degeneration of the lateral corticospinal tracts	5/117	11/4277	5.6988843676739065e-06	n.a	5	0.0013545535781414	DCTN1, NEFH, PRPH, SOD1, SPG11
C0085400	XX	e	Neurofibrillary tangles	6/117	19/4277	7.477177014510379e-06	n.a	6	0.0016630756593896	APOE, APP, GRN, MAPT, NOS3, PSEN1
C1862968	XX	e	Generalized amyloid deposition	4/117	6/4277	7.652859331927122e-06	n.a	4	0.0016630756593896	APOA1, CST3, FGA, GSN
C1856507	XX	e	Bulbar signs	4/117	6/4277	7.652859331927122e-06	n.a	4	0.0016630756593896	FIG4, GFAP, MATR3, SPG11
C4024897	XX	e	Atrophy/Degeneration involving the corticospinal tracts	5/117	12/4277	9.55664715247841e-06	n.a	5	0.0019128383747829	DCTN1, NEFH, PRPH, SOD1, SPG11
C1843505	XX	e	Degeneration of anterior horn cells	5/117	12/4277	9.55664715247841e-06	n.a	5	0.0019128383747829	DCTN1, NEFH, PRPH, SETX, SOD1
C1838579	XX	e	Pseudobulbar signs	5/117	12/4277	9.55664715247841e-06	n.a	5	0.0019128383747829	ALS2, DCTN1, NEFH, PRPH, SOD1
C4551583	XX	e	Cerebral cortical atrophy	12/117	97/4277	9.998451620729884e-06	n.a	12	0.0019499544365967	ALS2, APOE, CHCHD10, CHMP2B, GRN, NEK1, PSEN1, SPG11, SQSTM1, TBK1, TREM2, VCP
C0474420	XX	e	Inappropriate sexual behavior	3/117	3/4277	1.996312956628152e-05	n.a	3	0.0037959890870284	GRN, MAPT, PSEN1
C4021993	XX	e	Abnormality of the glial cells	11/117	89/4277	2.4181484487270863e-05	n.a	11	0.004485960268541	ATXN2, CHMP2B, GRN, HTT, IFNG, MAPT, PRKN, PSEN1, SNCA, TP53, UBQLN2
C0026650	XX	e	Movement disorder	54/117	1214/4277	3.992531285604991e-05	n.a	54	0.0072302840376932	ACTB, AIFM1, ALS2, APOE, ARG1, ATXN2, CCNF, CHCHD10, CHMP2B, CP, CREBBP, DCTN1, DHFR, DLAT, ERBB4, FIG4, FUS, GLE1, GRIA3, GRN, GSX2, HTT, KIF5A, MAPT, MAT1A, MATR3, MMP2, MTHFR, NEFH, NEK1, OPTN, PARK7, PC, PFN1, PNP, PRKN, PRPH, PSEN1, SETX, SIGMAR1, SLC1A2, SLC6A1, SNCA, SOD1, SORD, SPG11, SQSTM1, TARDBP, TBK1, TREM2, TTR, UBQLN2, VAPB, VCP
C0233522	XX	e	Inappropriate behavior	5/117	16/4277	4.826561953301063e-05	n.a	5	0.0085374023760018	CHMP2B, DCTN1, GRN, MAPT, PSEN1
C4021765	XX	e	Morphological abnormality of the central nervous system	72/117	1837/4277	5.8352630638022624e-05	n.a	72	0.0099701566292759	ACTB, AGT, AIFM1, ALS2, ANG, ANXA11, APOE, APP, ARG1, ATG5, ATXN2, CCL2, CCNF, CHCHD10, CHMP2B, CREBBP, CST3, CTSD, DCTN1, DHFR, DLAT, DPP6, ERBB4, FIG4, FUS, GFAP, GLE1, GRN, GSX2, HNRNPA1, HTT, IFNG, IGF1, IL6, JAK3, KIF5A, MAPT, MAT1A, MATR3, MTHFR, NEFH, NEK1, NFE2L2, NOS3, OPTN, PC, PFN1, PNP, PRKDC, PRKN, PRPH, PSEN1, SETX, SIGMAR1, SLC1A2, SNCA, SOD1, SPG11, SQSTM1, TARDBP, TBK1, TP53, TREM2, TRPM7, TTR, TUBA1A, TUBA4A, UBQLN2, VAPB, VCP, WNT7A, XIAP
C0033790	XX	e	Pseudobulbar paralysis	4/117	9/4277	6.0298081113159664e-05	n.a	4	0.0099701566292759	DCTN1, NEFH, PRPH, SOD1
C0233651	XX	e	Perseveration	4/117	9/4277	6.0298081113159664e-05	n.a	4	0.0099701566292759	GRN, MAPT, PSEN1, TARDBP
C0151889	XX	e	Hyperreflexia	24/117	380/4277	8.282162540121089e-05	n.a	24	0.0134030060170555	ALS2, APOE, CHMP2B, CREBBP, DCTN1, DLAT, GLE1, HTT, KIF5A, MAT1A, MATR3, NEFH, NEK1, PARK7, PC, PRKN, PRPH, PSEN1, SETX, SIGMAR1, SOD1, SPG11, SQSTM1, TBK1
C0026837	XX	e	Rigidity	10/117	86/4277	9.80143744209689e-05	n.a	10	0.0152707212561472	ATXN2, CHMP2B, CP, CTSD, DCTN1, HTT, MAPT, PARK7, PRKN, SNCA
C4025723	XX	e	Abnormal upper motor neuron morphology	4/117	10/4277	9.837829891548988e-05	n.a	4	0.0152707212561472	ALS2, MATR3, SETX, SIGMAR1
C4023588	XX	e	Abnormality of the gastrointestinal tract	38/117	759/4277	0.0001079558284236	n.a	38	0.0164222406198016	ABCB1, ACTB, ALDOB, ALS2, APOE, ATXN2, BAX, CHCHD10, CREBBP, DCTN1, FIG4, HTT, IL1B, IL6, JAK3, KIF5A, MAPT, MATR3, NEFH, NEK1, NOTCH1, OPTN, PFN1, PLA2G4A, PRPH, PSEN1, SETX, SNCA, SOD1, SPG11, SQSTM1, TARDBP, TBK1, TP53, UBQLN2, VAPB, VWF, XIAP
C0002395	XX	e	Alzheimer disease	4/117	11/4277	0.0001513379643707	n.a	4	0.0221360876346958	APOE, APP, NOS3, PSEN1
C0333773	XX	e	Rimmed vacuoles	5/117	21/4277	0.0002014747003859	n.a	5	0.0283780846506534	HNRNPA1, MATR3, NEFH, SQSTM1, VCP
C0233794	XX	e	Memory impairment	6/117	33/4277	0.0002230732577927	n.a	6	0.0294997339848554	APOE, CHMP2B, GRN, MAPT, PSEN1, TREM2
C4082299	XX	e	Bulbar palsy	6/117	33/4277	0.0002230732577927	n.a	6	0.0294997339848554	CHCHD10, GSN, MATR3, SQSTM1, TBK1, TRPM7
C4022810	XX	e	Abnormality of nervous system morphology	75/117	2016/4277	0.00022439785472	n.a	75	0.0294997339848554	ACTB, AGT, AIFM1, ALS2, ANG, ANXA11, APOE, APP, ARG1, ATG5, ATXN2, CCL2, CCNF, CHCHD10, CHMP2B, CREBBP, CST3, CTSD, DCTN1, DHFR, DLAT, DPP6, ERBB4, FIG4, FUS, GFAP, GLE1, GRN, GSN, GSX2, HADHA, HNRNPA1, HTT, IFNG, IGF1, IL6, JAK3, KIF5A, MAPT, MAT1A, MATR3, MTHFR, NEFH, NEK1, NFE2L2, NOS3, OPTN, PC, PFN1, PNP, PRKDC, PRKN, PRPH, PSEN1, SETX, SIGMAR1, SLC1A2, SNCA, SOD1, SORD, SPG11, SQSTM1, TARDBP, TBK1, TP53, TREM2, TRPM7, TTR, TUBA1A, TUBA4A, UBQLN2, VAPB, VCP, WNT7A, XIAP
C4022563	XX	e	Abnormality of muscle size	23/117	383/4277	0.0002249519551829	n.a	23	0.0294997339848554	AIFM1, ALS2, ANG, ATXN2, CHCHD10, DCTN1, FIG4, FUS, GLE1, HNRNPA1, HNRNPA2B1, NEFH, PFN1, PRPH, SETX, SIGMAR1, SOD1, SPG11, SQSTM1, TARDBP, TBK1, VAPB, VCP
C0234132	XX	e	Abnormal pyramidal signs	16/117	218/4277	0.0002418569535339	n.a	16	0.0311790506538881	ALS2, APOE, CHCHD10, CHMP2B, HTT, KIF5A, MAPT, NEFH, PSEN1, SETX, SIGMAR1, SOD1, SPG11, SQSTM1, TARDBP, TREM2
C0017639	XX	e	Gliosis	8/117	64/4277	0.0003036124126153	n.a	8	0.0378569837762706	ATXN2, GRN, HTT, MAPT, PRKN, PSEN1, SNCA, UBQLN2
C0575081	XX	e	Gait disturbance	30/117	577/4277	0.0003105018229544	n.a	30	0.0380915623450297	AIFM1, ALS2, APOE, ARG1, ATXN2, CHCHD10, CHMP2B, CREBBP, DCTN1, ERBB4, FIG4, FUS, GLE1, GSX2, HTT, KIF5A, MAPT, MMP2, MTHFR, NEFH, PRKN, PSEN1, SETX, SLC1A2, SNCA, SORD, SPG11, SQSTM1, TREM2, VCP
C4025831	XX	e	Abnormal peripheral nervous system morphology	27/117	496/4277	0.0003422090545915	n.a	27	0.0413149534797393	AIFM1, ALS2, ATXN2, CHCHD10, CTSD, DCTN1, FIG4, GLE1, GSN, HADHA, KIF5A, MAT1A, MATR3, MTHFR, NEFH, PRPH, SETX, SIGMAR1, SOD1, SORD, SPG11, SQSTM1, TBK1, TRPM7, TTR, UBQLN2, VCP
C0338455	XX	e	Frontal lobe dementia	3/117	6/4277	0.0003758044679583	n.a	3	0.0439749043583229	CHCHD10, MAPT, PSEN1
C0427065	XX	e	Distal muscle weakness	10/117	103/4277	0.0004414905949093	n.a	10	0.0506474124941497	ANG, DCTN1, FIG4, GRIA3, MATR3, SETX, SIGMAR1, SORD, SPG11, VAPB
C4023354	XX	e	Abnormality of central motor function	49/117	1156/4277	0.0004461447064301	n.a	49	0.0506474124941497	AIFM1, ALS2, ANG, APOE, APP, ARG1, ATG5, ATXN2, CFH, CHCHD10, CHMP2B, CP, CREBBP, CTSD, DCTN1, DHFR, DLAT, FIG4, GFAP, GRN, GSX2, HTT, KIF5A, MAPT, MTHFR, NEFH, NEK1, NOS3, PARK7, PFN1, PNP, PRKN, PRPH, PSEN1, SETX, SIGMAR1, SLC1A2, SLC6A1, SNCA, SOD1, SPG11, SQSTM1, TARDBP, TBK1, TREM2, TRPM7, TTR, TUBA1A, UBQLN2
C0034935	XX	e	Babinski sign	13/117	165/4277	0.0004900889464498	n.a	13	0.0548178900984889	ALS2, APOE, CHCHD10, CHMP2B, KIF5A, NEFH, PSEN1, SETX, SIGMAR1, SOD1, SPG11, TARDBP, TREM2
C0037763	XX	e	Muscle cramps	7/117	53/4277	0.0005204875734297	n.a	7	0.0573743258479194	CHCHD10, DCTN1, NEFH, PRPH, SOD1, TRPM7, VAPB
C0001816	XX	e	Agnosia	3/117	7/4277	0.0006445482464219	n.a	3	0.070034770889789	APOE, PSEN1, TREM2
C0266015	XX	e	Abnormality of the digestive system	63/117	1647/4277	0.0007026315370651	n.a	63	0.0752706404354574	ABCB1, ABCC2, ACTB, ALDOB, ALS2, APOA1, APOE, ARG1, ATXN2, BAX, CFAP410, CFH, CHCHD10, CREBBP, DCTN1, DHFR, FGA, FIG4, GLE1, GSN, GSX2, HADHA, HMOX1, HNRNPA1, HTT, IFNG, IL1B, IL6, JAK3, KIF5A, LAT, MAPT, MATR3, NEFH, NEK1, NOTCH1, NR1H4, OPTN, PC, PFN1, PLA2G4A, PNP, PPARG, PRKCD, PRPH, PSEN1, PYGL, SETX, SLC1A2, SNCA, SOD1, SPG11, SQSTM1, TALDO1, TARDBP, TBK1, TNF, TP53, TTR, UBQLN2, VAPB, VWF, XIAP
C0233469	XX	e	Emotional blunting	2/117	2/4277	0.000742107642567	n.a	2	0.0783954267967388	MAPT, PSEN1
C0003635	XX	e	Apraxia	9/117	92/4277	0.0008135647928224	n.a	9	0.0847667645781889	APOE, ATXN2, DLAT, GRN, MAPT, PSEN1, SETX, SQSTM1, TREM2
CN002266	XX	e	Impaired vibratory sensation	6/117	42/4277	0.0008643421924637	n.a	6	0.088840361025393	ATXN2, KIF5A, NEFH, SETX, SORD, SPG11
C1847584	XX	e	Distal sensory impairment	9/117	95/4277	0.0010272963500613	n.a	9	0.1028107373495624	AIFM1, CHCHD10, FIG4, KIF5A, MATR3, NEFH, SETX, SPG11, VCP
C4025701	XX	e	Abnormality of the cerebral cortex	18/117	292/4277	0.0010571540499081	n.a	18	0.1044248532935294	ACTB, ALS2, APOE, CHCHD10, CHMP2B, FIG4, GRN, IFNG, NEK1, PC, PRKDC, PSEN1, SPG11, SQSTM1, TBK1, TREM2, TUBA1A, VCP
C4531101	XX	e	Impairment in personality functioning	14/117	203/4277	0.0011297359165377	n.a	14	0.1101637356562329	ATXN2, CHMP2B, CREBBP, DCTN1, GRN, HTT, MAPT, PARK7, PSEN1, SNCA, SQSTM1, TARDBP, TBK1, TREM2
C1839042	XX	e	Upper motor neuron dysfunction	34/117	737/4277	0.0011658449583653	n.a	34	0.1122457816876807	AIFM1, ALS2, ANG, APOE, ARG1, ATXN2, CFH, CHCHD10, CHMP2B, CTSD, DCTN1, FIG4, GFAP, GSX2, HTT, KIF5A, MAPT, NEFH, NEK1, PFN1, PNP, PRPH, PSEN1, SETX, SIGMAR1, SLC1A2, SOD1, SPG11, SQSTM1, TARDBP, TBK1, TREM2, TTR, TUBA1A
C0233565	XX	e	Bradykinesia	7/117	61/4277	0.0012298302748304	n.a	7	0.1169261133795042	ATXN2, DCTN1, HTT, MAPT, PARK7, PRKN, SNCA
C1865903	XX	e	Long-tract signs	3/117	9/4277	0.0014859679897027	n.a	3	0.1342268850415902	APOE, APP, NOS3
C4021523	XX	e	Upper limb amyotrophy	4/117	19/4277	0.0015000375004647	n.a	4	0.1342268850415902	ALS2, DCTN1, NEFH, SPG11
C0231688	XX	e	Shuffling gait	4/117	19/4277	0.0015000375004647	n.a	4	0.1342268850415902	ATXN2, DCTN1, MAPT, SNCA
C0085200	XX	e	Lewy bodies	4/117	19/4277	0.0015000375004647	n.a	4	0.1342268850415902	ATXN2, GRN, MAPT, SNCA
C4025660	XX	e	Abnormality of the ankles	6/117	47/4277	0.0015829246443467	n.a	6	0.1383876418954164	FIG4, HTT, KIF5A, MMP2, SOD1, SPG11
C0587246	XX	e	Limb muscle weakness	10/117	125/4277	0.0020014727763435	n.a	10	0.1710472127738085	CCNF, CHCHD10, DCTN1, KIF5A, NEFH, SIGMAR1, SORD, SPG11, SQSTM1, VCP
C3805715	XX	e	Short stepped shuffling gait	3/117	10/4277	0.0020806492857565	n.a	3	0.1739056974446664	ATXN2, DCTN1, MAPT
C0973461	XX	e	Dysphasia	3/117	10/4277	0.0020806492857565	n.a	3	0.1739056974446664	CFH, GRN, VCP
C0034902	XX	e	Pure red cell aplasia	2/117	3/4277	0.0021863966686144	n.a	2	0.1788143339944254	PNP, TP53
C0238651	XX	e	Ankle clonus	4/117	21/4277	0.002220371426275	n.a	4	0.179661117747319	HTT, KIF5A, SOD1, SPG11
C0040822	XX	e	Tremor	16/117	260/4277	0.0022700807911149	n.a	16	0.1817498368128461	ATXN2, CHCHD10, DCTN1, FUS, HTT, MAPT, PARK7, PNP, PRKN, SETX, SLC6A1, SNCA, SPG11, SQSTM1, TTR, VAPB
C0085606	XX	e	Urinary urgency	5/117	35/4277	0.0023671154941773	n.a	5	0.1875445880074239	ATXN2, KIF5A, MAPT, SNCA, SPG11
C4293692	XX	e	Abnormality of digestive system physiology	45/117	1106/4277	0.0025505775222019	n.a	45	0.1999968312769903	ABCB1, ACTB, ALDOB, ALS2, APOE, ARG1, ATXN2, CFH, CHCHD10, CREBBP, DCTN1, DHFR, GLE1, GSX2, HTT, IFNG, IL6, JAK3, KIF5A, MAPT, MATR3, NEFH, NEK1, NR1H4, OPTN, PFN1, PLA2G4A, PRPH, PSEN1, SETX, SLC1A2, SNCA, SOD1, SPG11, SQSTM1, TALDO1, TARDBP, TBK1, TNF, TP53, TTR, UBQLN2, VAPB, VWF, XIAP
C0009024	XX	e	Clonus	6/117	52/4277	0.0026857943476415	n.a	6	0.2084505286547094	HTT, KIF5A, PC, SETX, SOD1, SPG11
C4023352	XX	e	Abnormality of higher mental function	62/117	1682/4277	0.0027972317565339	n.a	62	0.2111712542959249	ACTB, AIFM1, ALDOB, ALS2, APOE, APP, ARG1, ATG5, ATXN2, CCNF, CFH, CHCHD10, CHMP2B, CP, CREBBP, CST3, CTSD, DCTN1, DLAT, DPP6, FIG4, GABRA1, GDI1, GLE1, GRIA3, GRN, GSX2, HNRNPA2B1, HTT, IFNG, IGF1, MAPT, MAT1A, MATR3, MTHFR, NEFH, NEK1, NFE2L2, NOS3, OPTN, PC, PFN1, PNP, PRPH, PSEN1, SETX, SLC1A2, SLC6A1, SNCA, SOD1, SPG11, SQSTM1, TARDBP, TBK1, TREM2, TRPM7, TTR, TUBA1A, TUBA4A, UBQLN2, VAPB, VCP
C1846865	XX	e	Substantia nigra gliosis	3/117	11/4277	0.0028041410312764	n.a	3	0.2111712542959249	ATXN2, MAPT, PRKN
C0018524	XX	e	Hallucinations	6/117	53/4277	0.0029622164890024	n.a	6	0.2168286526428549	ATXN2, FIG4, GRN, MAPT, MTHFR, SNCA
C4022595	XX	e	Tetraplegia/tetraparesis	7/117	71/4277	0.0029932958884433	n.a	7	0.2168286526428549	AIFM1, ALS2, APOE, NEK1, PNP, PSEN1, SOD1
C4520981	XX	e	Abnormality of the basal ganglia	7/117	71/4277	0.0029932958884433	n.a	7	0.2168286526428549	AIFM1, ATXN2, GSX2, HTT, MAPT, PRKN, TREM2
C0270790	XX	e	Tetraparesis	6/117	54/4277	0.0032594120095238	n.a	6	0.2338781862682871	ALS2, APOE, NEK1, PNP, PSEN1, SOD1
C4021255	XX	e	Weakness due to upper motor neuron dysfunction	13/117	204/4277	0.0034475831653767	n.a	13	0.2450683883724851	AIFM1, ALS2, APOE, ARG1, CFH, KIF5A, NEK1, PNP, PSEN1, SOD1, SPG11, TBK1, TTR
C0042024	XX	e	Urinary incontinence	7/117	73/4277	0.0035061515723774	n.a	7	0.2469239709213208	ALS2, CCL2, CHMP2B, KIF5A, SPG11, SQSTM1, TTR
C4022403	XX	e	Abnormality of the substantia nigra	3/117	12/4277	0.0036647785007041	n.a	3	0.2537814238842379	ATXN2, MAPT, PRKN
C4025830	XX	e	Peripheral axonal degeneration	9/117	114/4277	0.0036702546183626	n.a	9	0.2537814238842379	AIFM1, CTSD, FIG4, GLE1, NEFH, SETX, SPG11, TTR, UBQLN2
C4476938	XX	e	Impairment of activities of daily living	7/117	74/4277	0.003786461126941	n.a	7	0.2571412797456565	ALS2, CCL2, CHMP2B, KIF5A, SPG11, SQSTM1, TTR
C4476943	XX	e	Impaired continence	7/117	74/4277	0.003786461126941	n.a	7	0.2571412797456565	ALS2, CCL2, CHMP2B, KIF5A, SPG11, SQSTM1, TTR
C3806467	XX	e	Respiratory insufficiency due to muscle weakness	6/117	56/4277	0.0039199059692701	n.a	6	0.2638478301085754	AIFM1, ERBB4, GLE1, MATR3, SPG11, TARDBP
C4025711	XX	e	Abnormality of the caudate nucleus	2/117	4/4277	0.004294538242953	n.a	2	0.2689205027299925	HTT, TREM2
C0751349	XX	e	Eyelid myoclonus	2/117	4/4277	0.004294538242953	n.a	2	0.2689205027299925	DHFR, SLC6A1
C4024895	XX	e	Atrophy/Degeneration involving the caudate nucleus	2/117	4/4277	0.004294538242953	n.a	2	0.2689205027299925	HTT, TREM2
C1833297	XX	e	Frontal release signs	2/117	4/4277	0.004294538242953	n.a	2	0.2689205027299925	CHMP2B, MAPT
C1858116	XX	e	Caudate atrophy	2/117	4/4277	0.004294538242953	n.a	2	0.2689205027299925	HTT, TREM2
C0085220	XX	e	Cerebral amyloid angiopathy	2/117	4/4277	0.004294538242953	n.a	2	0.2689205027299925	APOE, APP
C2732838	XX	e	Neoplasm of the skeletal system	4/117	25/4277	0.0043134763782617	n.a	4	0.2689205027299925	IFNG, SQSTM1, TAF15, TP53
C0234379	XX	e	Resting tremor	4/117	25/4277	0.0043134763782617	n.a	4	0.2689205027299925	ATXN2, MAPT, PARK7, SNCA
C0027066	XX	e	Myoclonus	10/117	142/4277	0.005074048381834	n.a	10	0.3122291986543522	APOE, ATXN2, CHMP2B, DHFR, GRIA3, KIF5A, PSEN1, SLC6A1, SNCA, TREM2
C4025347	XX	e	Weakness of muscles of respiration	6/117	59/4277	0.0050902472565263	n.a	6	0.3122291986543522	AIFM1, ERBB4, GLE1, MATR3, SPG11, TARDBP
C0037822	XX	e	Neurological speech impairment	37/117	887/4277	0.0052054734996388	n.a	37	0.3167426515060254	ALS2, APOE, ATXN2, CCNF, CFH, CHCHD10, CHMP2B, CP, CREBBP, DCTN1, DLAT, GLE1, GRN, GSX2, HTT, MAPT, MATR3, NEFH, NEK1, NFE2L2, OPTN, PFN1, PRPH, PSEN1, SETX, SLC1A2, SNCA, SOD1, SPG11, SQSTM1, TARDBP, TBK1, TREM2, TTR, UBQLN2, VAPB, VCP
C0233514	XX	e	Behavioral abnormality	37/117	893/4277	0.0054384487948337	n.a	37	0.3282923931230599	AIFM1, ALS2, APOE, ARG1, ATXN2, CCNF, CFAP410, CHMP2B, CREBBP, DCTN1, DLAT, DPP6, FIG4, GLE1, GRIA3, GRN, HNRNPA2B1, HTT, IFNG, IGF1, IL6, MAPT, MTHFR, NEFH, PARK7, PC, PNP, PRPH, PSEN1, SLC1A2, SNCA, SOD1, SQSTM1, TARDBP, TBK1, TNF, TREM2
C1527344	XX	e	Dysphonia	4/117	27/4277	0.0057378224840093	n.a	4	0.3336698383819869	DCTN1, NEFH, PRPH, SOD1
C4025722	XX	e	Abnormality of the spinal cord	9/117	122/4277	0.005754059955	n.a	9	0.3336698383819869	APOE, APP, ATXN2, CCL2, CREBBP, MTHFR, NOS3, SETX, WNT7A
C0422895	XX	e	Primitive reflex	3/117	14/4277	0.005826095355568	n.a	3	0.3336698383819869	MAPT, PSEN1, TREM2
C0239830	XX	e	Hand muscle atrophy	3/117	14/4277	0.005826095355568	n.a	3	0.3336698383819869	ALS2, DCTN1, SPG11
C1263857	XX	e	Peripheral axonal neuropathy	7/117	80/4277	0.0058422444461888	n.a	7	0.3336698383819869	AIFM1, CTSD, GLE1, NEFH, SETX, SPG11, TTR
C0037317	XX	e	Sleep disturbance	10/117	145/4277	0.0058784851884283	n.a	10	0.3336698383819869	APOE, ATXN2, CREBBP, DCTN1, HTT, MAPT, NEFH, PRPH, SNCA, SOD1
C0522224	XX	e	Paralysis	6/117	61/4277	0.0060014444693616	n.a	6	0.3381258269182596	DCTN1, NEFH, PRPH, SOD1, TRPM7, UBQLN2
C0020580	XX	e	Sensory impairment	11/117	172/4277	0.0068805883109184	n.a	11	0.3793221541624307	AIFM1, ATXN2, CHCHD10, FIG4, KIF5A, MATR3, NEFH, SETX, SORD, SPG11, VCP
C0241700	XX	e	Weak voice	3/117	15/4277	0.0071388744543254	n.a	3	0.3878448507114225	ATXN2, DCTN1, MAPT
C5139058	XX	e	Abnormality of carbohydrate metabolism/homeostasis	4/117	29/4277	0.0074458753043116	n.a	4	0.3955720043716789	AIFM1, IL6, PC, SORD
C1848736	XX	e	Distal amyotrophy	8/117	106/4277	0.0079696131281497	n.a	8	0.4123597105626315	ALS2, ANG, ATXN2, DCTN1, SETX, SIGMAR1, SPG11, VCP
C4025779	XX	e	Abnormality of the musculature of the upper limbs	7/117	85/4277	0.0081157921732718	n.a	7	0.4145586466572707	ALS2, DCTN1, MATR3, NEFH, SPG11, SQSTM1, VCP
C0151888	XX	e	Hyporeflexia	13/117	219/4277	0.0082550921956168	n.a	13	0.4185882082657434	AIFM1, ATXN2, CHCHD10, FIG4, FUS, GRIA3, NEFH, SETX, SIGMAR1, SQSTM1, TBK1, TTR, VAPB
C0235946	XX	e	Cerebral atrophy	18/117	344/4277	0.0083397262939861	n.a	18	0.4200791933248897	ALS2, APOE, CHCHD10, CHMP2B, CTSD, DHFR, GLE1, GRN, HTT, NEK1, PRKN, PSEN1, SLC1A2, SPG11, SQSTM1, TBK1, TREM2, VCP
C0027497	XX	e	Nausea	3/117	16/4277	0.008613103157434	n.a	3	0.4207759254926269	ALDOB, TNF, TP53
C4025690	XX	e	Prenatal maternal abnormality	3/117	16/4277	0.008613103157434	n.a	3	0.4207759254926269	HADHA, NOS3, PPARG
C1843663	XX	e	Urinary bladder sphincter dysfunction	3/117	16/4277	0.008613103157434	n.a	3	0.4207759254926269	ATXN2, KIF5A, SPG11
C5139039	XX	e	Abnormality of carboxylic acid metabolism	10/117	154/4277	0.0089021537486919	n.a	10	0.431272493073575	ABCC2, ALDOB, APP, ARG1, GPX1, GSR, MAT1A, MTHFR, NOS3, PC
C4024898	XX	e	Atrophy/Degeneration affecting the cerebrum	18/117	353/4277	0.0093011568175982	n.a	18	0.4477506250294433	ALS2, APOE, CHCHD10, CHMP2B, CTSD, DHFR, GLE1, GRN, HTT, NEK1, PRKN, PSEN1, SLC1A2, SPG11, SQSTM1, TBK1, TREM2, VCP
C0234378	XX	e	Postural tremor	4/117	31/4277	0.0094592488913236	n.a	4	0.4496690441712991	ATXN2, FUS, PARK7, VAPB
C0020505	XX	e	Polyphagia	4/117	31/4277	0.0094592488913236	n.a	4	0.4496690441712991	GRN, IL6, MAPT, PSEN1
C1837407	XX	e	Ankle contracture	3/117	17/4277	0.0102528594673018	n.a	3	0.4662594674428232	FIG4, MMP2, SPG11
C4021581	XX	e	Distal upper limb amyotrophy	3/117	17/4277	0.0102528594673018	n.a	3	0.4662594674428232	ALS2, DCTN1, SPG11
C0037315	XX	e	Sleep apnea	5/117	49/4277	0.0102645175229962	n.a	5	0.4662594674428232	CREBBP, DCTN1, NEFH, PRPH, SOD1
C4023607	XX	e	Abnormality of the striatum	2/117	6/4277	0.0103567147097149	n.a	2	0.4662594674428232	HTT, TREM2
C0520823	XX	e	Knee clonus	2/117	6/4277	0.0103567147097149	n.a	2	0.4662594674428232	KIF5A, SPG11
C4531166	XX	e	Decreased lymphocyte proliferation in response to mitogen	2/117	6/4277	0.0103567147097149	n.a	2	0.4662594674428232	JAK3, PNP
C0268435	XX	e	Proximal renal tubular acidosis	2/117	6/4277	0.0103567147097149	n.a	2	0.4662594674428232	ALDOB, PC
C0242528	XX	e	Azotemia	7/117	89/4277	0.0103599592424187	n.a	7	0.4662594674428232	ALDOB, ARG1, CFH, HADHA, NR1H4, PNP, PPARG
C1836296	XX	e	Lower limb muscle weakness	5/117	50/4277	0.0111615151645085	n.a	5	0.4937115839057294	DCTN1, KIF5A, NEFH, SORD, SPG11
C0728829	XX	e	Pes cavus	10/117	160/4277	0.0115034510817511	n.a	10	0.5057528839757162	ALS2, CHCHD10, KIF5A, MMP2, NEFH, SETX, SIGMAR1, SORD, SPG11, VCP
C1865039	XX	e	Cupped ribs	3/117	18/4277	0.0120615183755448	n.a	3	0.5183045692903636	AIFM1, CFAP410, PCYT1A
C0267812	XX	e	Micronodular cirrhosis	3/117	18/4277	0.0120615183755448	n.a	3	0.5183045692903636	ARG1, TALDO1, TP53
C4025336	XX	e	Abnormality of nitrogen compound homeostasis	7/117	92/4277	0.0123183666696241	n.a	7	0.5263679600514685	ALDOB, ARG1, CFH, HADHA, NR1H4, PNP, PPARG
C0031117	XX	e	Peripheral neuropathy	17/117	334/4277	0.0126810087937169	n.a	17	0.5349767760294156	AIFM1, ATXN2, CHCHD10, CTSD, FIG4, GLE1, GSN, HADHA, KIF5A, MATR3, MTHFR, NEFH, SETX, SORD, SPG11, TTR, VCP
C4024582	XX	e	Abnormality of the musculature of the limbs	13/117	236/4277	0.0127308436052227	n.a	13	0.5349767760294156	ALS2, CCNF, CHCHD10, DCTN1, HNRNPA1, KIF5A, MATR3, NEFH, SIGMAR1, SORD, SPG11, SQSTM1, VCP
C0575059	XX	e	Spastic tetraparesis	4/117	34/4277	0.0130940546201581	n.a	4	0.5472163705545227	ALS2, APOE, PSEN1, SOD1
C4551584	XX	e	Brain atrophy	19/117	392/4277	0.0133794924697608	n.a	19	0.5530674985054388	ALS2, APOE, CHCHD10, CHMP2B, CTSD, DHFR, GLE1, GRN, HTT, NEK1, PRKDC, PRKN, PSEN1, SLC1A2, SPG11, SQSTM1, TBK1, TREM2, VCP
C1837512	XX	e	Decreased serum complement C3	2/117	7/4277	0.014241581295033	n.a	2	0.5786829317180109	CFH, PRKCD
C1843369	XX	e	Vertical supranuclear gaze palsy	2/117	7/4277	0.014241581295033	n.a	2	0.5786829317180109	DCTN1, SQSTM1
C1846433	XX	e	Prominent sternum	2/117	7/4277	0.014241581295033	n.a	2	0.5786829317180109	AIFM1, WNT7A
C4021982	XX	e	Abnormal eating behavior	4/117	35/4277	0.0144781757976722	n.a	4	0.5786829317180109	GRN, IL6, MAPT, PSEN1
C0002878	XX	e	Hemolytic anemia	7/117	95/4277	0.0145317433550013	n.a	7	0.5786829317180109	CFH, GPX1, GSR, HMOX1, LAT, PNP, PRKCD
C4021112	XX	e	Anemia due to reduced life span of red cells	7/117	95/4277	0.0145317433550013	n.a	7	0.5786829317180109	CFH, GPX1, GSR, HMOX1, LAT, PNP, PRKCD
C1843921	XX	e	Postural instability	4/117	36/4277	0.015951730960337	n.a	4	0.6253055480260397	ATXN2, MAPT, PRKN, SNCA
C0026847	XX	e	Spinal muscular atrophy	3/117	20/4277	0.0161957918697251	n.a	3	0.6253055480260397	CHCHD10, SIGMAR1, VAPB
C1842587	XX	e	Sensory axonal neuropathy	3/117	20/4277	0.0161957918697251	n.a	3	0.6253055480260397	AIFM1, CTSD, NEFH
C4021991	XX	e	Abnormality of the astrocytes	3/117	20/4277	0.0161957918697251	n.a	3	0.6253055480260397	CHMP2B, IFNG, TP53
C1866934	XX	e	Reduced tendon reflexes	16/117	314/4277	0.01724329922081	n.a	16	0.6590579591632221	AIFM1, ATXN2, CHCHD10, FIG4, FUS, GLE1, GRIA3, NEFH, SETX, SIGMAR1, SPG11, SQSTM1, TBK1, TTR, VAPB, VCP
C1720037	XX	e	Supranuclear gaze palsy	3/117	21/4277	0.0185250286102072	n.a	3	0.6787849206263762	DCTN1, MAPT, SQSTM1
C0042487	XX	e	Venous thrombosis	3/117	21/4277	0.0185250286102072	n.a	3	0.6787849206263762	MTHFR, NOTCH1, PLAT
C0029463	XX	e	Osteosarcoma	2/117	8/4277	0.0186518601644639	n.a	2	0.6787849206263762	SQSTM1, TP53
C0014474	XX	e	Ependymoma	2/117	8/4277	0.0186518601644639	n.a	2	0.6787849206263762	IFNG, TP53
C0751466	XX	e	Phonophobia	2/117	8/4277	0.0186518601644639	n.a	2	0.6787849206263762	CREBBP, TNF
C1840376	XX	e	Elevated mean arterial pressure	2/117	8/4277	0.0186518601644639	n.a	2	0.6787849206263762	AGT, NOS3
C0032914	XX	e	Preeclampsia	2/117	8/4277	0.0186518601644639	n.a	2	0.6787849206263762	NOS3, PPARG
C4024936	XX	e	Temporal cortical atrophy	2/117	8/4277	0.0186518601644639	n.a	2	0.6787849206263762	NEK1, VCP
C0013528	XX	e	Echolalia	2/117	8/4277	0.0186518601644639	n.a	2	0.6787849206263762	MAPT, PSEN1
C4023515	XX	e	Dialeptic seizures	5/117	57/4277	0.0189719347889782	n.a	5	0.6871454095474696	DHFR, FIG4, GABRA1, GDI1, SLC6A1
C1261473	XX	e	Sarcoma	6/117	79/4277	0.0202143779261745	n.a	6	0.7077104397972647	BAX, EWSR1, IFNG, SQSTM1, TAF15, TP53
C0020649	XX	e	Hypotension	4/117	39/4277	0.0209252332817013	n.a	4	0.7077104397972647	AGT, ALB, SNCA, TTR
C4316903	XX	e	Absence seizures	4/117	39/4277	0.0209252332817013	n.a	4	0.7077104397972647	DHFR, GABRA1, GDI1, SLC6A1
C0424448	XX	e	Mask-like facies	3/117	22/4277	0.021030490499155	n.a	3	0.7077104397972647	ATXN2, DCTN1, MAPT
C4022811	XX	e	Abnormality of nervous system physiology	82/117	2555/4277	0.0216515952622292	n.a	82	0.7077104397972647	ACTB, AIFM1, ALDOB, ALS2, ANG, APOE, APP, ARG1, ATG5, ATXN2, CCNF, CFAP410, CFH, CHCHD10, CHMP2B, CP, CREBBP, CST3, CTSD, DCTN1, DHFR, DLAT, DPP6, ERBB4, FIG4, FUS, GABRA1, GDI1, GFAP, GLE1, GRIA3, GRN, GSN, GSX2, HADHA, HNRNPA2B1, HTT, IFNG, IGF1, IL6, KIF5A, MAPT, MAT1A, MATR3, MMP2, MTHFR, NEFH, NEK1, NFE2L2, NOS3, NOTCH1, OPTN, PARK7, PC, PFN1, PNP, PRKDC, PRKN, PRPH, PSEN1, SETX, SIGMAR1, SLC1A2, SLC6A1, SNCA, SOD1, SORD, SPG11, SQSTM1, TARDBP, TBK1, TNF, TP53, TREM2, TRPM7, TTR, TUBA1A, TUBA4A, UBQLN2, VAPB, VCP, XIAP
C0026838	XX	e	Spasticity	23/117	534/4277	0.0227116952092246	n.a	23	0.7077104397972647	ALS2, ANG, APOE, ARG1, ATXN2, CTSD, DCTN1, GFAP, GSX2, HTT, KIF5A, NEFH, PFN1, PNP, PRPH, PSEN1, SIGMAR1, SLC1A2, SOD1, SPG11, TARDBP, TTR, TUBA1A
C0497552	XX	e	Abnormality of the nervous system	88/117	2791/4277	0.0232724983211843	n.a	88	0.7077104397972647	ACTB, AGT, AIFM1, ALDOB, ALS2, ANG, ANXA11, APOE, APP, ARG1, ATG5, ATXN2, CCL2, CCNF, CFAP410, CFH, CHCHD10, CHMP2B, CP, CREBBP, CST3, CTSD, DCTN1, DHFR, DLAT, DPP6, ERBB4, FIG4, FUS, GABRA1, GDI1, GFAP, GLE1, GRIA3, GRN, GSN, GSX2, HADHA, HNRNPA1, HNRNPA2B1, HTT, IFNG, IGF1, IL6, JAK3, KIF5A, MAPT, MAT1A, MATR3, MMP2, MTHFR, NEFH, NEK1, NFE2L2, NOS3, NOTCH1, OPTN, PARK7, PC, PFN1, PNP, PRKDC, PRKN, PRPH, PSEN1, SETX, SIGMAR1, SLC1A2, SLC6A1, SNCA, SOD1, SORD, SPG11, SQSTM1, TARDBP, TBK1, TNF, TP53, TREM2, TRPM7, TTR, TUBA1A, TUBA4A, UBQLN2, VAPB, VCP, WNT7A, XIAP
C1840374	XX	e	Elevated systolic blood pressure	2/117	9/4277	0.0235564007857434	n.a	2	0.7077104397972647	AGT, NOS3
C4021243	XX	e	Abnormality of thalamus morphology	2/117	9/4277	0.0235564007857434	n.a	2	0.7077104397972647	GSX2, TREM2
C4023139	XX	e	Abnormality of circulating fibrinogen	2/117	9/4277	0.0235564007857434	n.a	2	0.7077104397972647	FGA, XIAP
C0233763	XX	e	Visual hallucinations	2/117	9/4277	0.0235564007857434	n.a	2	0.7077104397972647	FIG4, SNCA
C0553681	XX	e	Hypofibrinogenemia	2/117	9/4277	0.0235564007857434	n.a	2	0.7077104397972647	FGA, XIAP
C4021328	XX	e	Duplication of phalanx of toe	2/117	9/4277	0.0235564007857434	n.a	2	0.7077104397972647	ACTB, CREBBP
C4759767	XX	e	Spondylometaphyseal dysplasia	2/117	9/4277	0.0235564007857434	n.a	2	0.7077104397972647	CFAP410, PCYT1A
C1840375	XX	e	Elevated diastolic blood pressure	2/117	9/4277	0.0235564007857434	n.a	2	0.7077104397972647	AGT, NOS3
C4551893	XX	e	Toxemia of pregnancy	2/117	9/4277	0.0235564007857434	n.a	2	0.7077104397972647	NOS3, PPARG
C1860164	XX	e	Duplication of phalanx of hallux	2/117	9/4277	0.0235564007857434	n.a	2	0.7077104397972647	ACTB, CREBBP
C0038273	XX	e	Stereotypy	6/117	82/4277	0.0238454234640775	n.a	6	0.7077104397972647	CHMP2B, CREBBP, GRN, MAPT, PSEN1, TARDBP
C4073187	XX	e	Abnormality of the peripheral nervous system	10/117	169/4277	0.0248086145827026	n.a	10	0.7077104397972647	ATXN2, CREBBP, FIG4, MAPT, MATR3, SETX, SIGMAR1, SNCA, SORD, TTR
C4021768	XX	e	Abnormality of metabolism/homeostasis	56/117	1620/4277	0.0262398415211853	n.a	56	0.7077104397972647	ABCC2, AIFM1, ALB, ALDOB, APOA1, APOE, APP, ARG1, CAT, CFH, CHCHD10, CP, CST3, CTSD, CYP2C9, DCTN1, DLAT, FGA, FIG4, GLE1, GPX1, GSN, GSR, HADHA, HMOX1, HNRNPA1, HNRNPA2B1, IFNG, IGF1, IL6, JAK3, LAT, LDLR, MAT1A, MATR3, MTHFR, NEFH, NEK1, NFE2L2, NOS3, NR1H4, PC, PLA2G4A, PNP, PPARG, PRKCD, PRKN, PYGL, SETX, SOD1, SORD, SQSTM1, TP53, TTR, VCP, XIAP
C4021727	XX	e	EMG: neuropathic changes	3/117	24/4277	0.0265715502634834	n.a	3	0.7077104397972647	ALS2, NEFH, VAPB
C0231687	XX	e	Spastic gait	4/117	42/4277	0.0267561644293595	n.a	4	0.7077104397972647	ALS2, ARG1, KIF5A, SPG11
C1858729	XX	e	Decreased motor nerve conduction velocity	4/117	42/4277	0.0267561644293595	n.a	4	0.7077104397972647	FIG4, SETX, SIGMAR1, SORD
CN001193	XX	e	Pachygyria	5/117	63/4277	0.0280044039005258	n.a	5	0.7217258666282185	ACTB, FIG4, NEK1, PRKDC, TUBA1A
C4020869	XX	e	Abnormality of abdomen morphology	19/117	427/4277	0.0280871491614452	n.a	19	0.7217258666282185	ALDOB, APOA1, APOE, ARG1, CFAP410, DHFR, FGA, GSN, HADHA, HMOX1, IFNG, LAT, NOTCH1, PC, PNP, PRKCD, PYGL, TALDO1, XIAP
C3806583	XX	e	Functional abnormality of the bladder	10/117	177/4277	0.0286654317600992	n.a	10	0.7237043613640969	ALS2, ATXN2, CCL2, CHMP2B, KIF5A, MAPT, SNCA, SPG11, SQSTM1, TTR
C4021031	XX	e	Abnormal motor nerve conduction velocity	4/117	43/4277	0.028895306456383	n.a	4	0.7237043613640969	FIG4, SETX, SIGMAR1, SORD
C3843207	XX	e	Sound sensitivity	2/117	10/4277	0.0289253386608842	n.a	2	0.7237043613640969	CREBBP, TNF
C1836479	XX	e	Saccadic smooth pursuit	2/117	10/4277	0.0289253386608842	n.a	2	0.7237043613640969	ALS2, SETX
C0151811	XX	e	Subcutaneous nodule	2/117	10/4277	0.0289253386608842	n.a	2	0.7237043613640969	IFNG, MMP2
C0427063	XX	e	Shoulder girdle muscle weakness	2/117	10/4277	0.0289253386608842	n.a	2	0.7237043613640969	MATR3, VCP
C1839969	XX	e	Reduced natural killer cell activity	2/117	10/4277	0.0289253386608842	n.a	2	0.7237043613640969	PRKCD, XIAP
C0024282	XX	e	Lymphocytosis	2/117	10/4277	0.0289253386608842	n.a	2	0.7237043613640969	PRKCD, XIAP
C0428465	XX	e	Hyperlipidemia	5/117	64/4277	0.029734948829457	n.a	5	0.7415213796618033	ALB, CFH, PPARG, PYGL, XIAP
C4025750	XX	e	Abnormality of the nasopharynx	7/117	110/4277	0.0299791120218907	n.a	7	0.745108818905242	CREBBP, JAK3, MATR3, PNP, PRKCD, TP53, XIAP
C0151854	XX	e	Abnormality of thrombocytes	12/117	228/4277	0.0326106573262535	n.a	12	0.7924102555323358	APOE, CFH, DHFR, IFNG, LAT, NOS3, PLA2G4A, PNP, PRKCD, TALDO1, VWF, XIAP
C0271390	XX	e	Gaze-evoked nystagmus	3/117	26/4277	0.0328174113190488	n.a	3	0.7924102555323358	ATXN2, SETX, SPG11
C0853228	XX	e	Abnormal serum ferritin	3/117	26/4277	0.0328174113190488	n.a	3	0.7924102555323358	CP, IFNG, XIAP
C0037287	XX	e	Skin nodule	3/117	26/4277	0.0328174113190488	n.a	3	0.7924102555323358	IFNG, LDLR, MMP2
C0241013	XX	e	Increased serum ferritin	3/117	26/4277	0.0328174113190488	n.a	3	0.7924102555323358	CP, IFNG, XIAP
C0003537	XX	e	Aphasia	2/117	11/4277	0.0347300492454028	n.a	2	0.8203625918029007	GRN, TREM2
C0005747	XX	e	Blepharospasm	2/117	11/4277	0.0347300492454028	n.a	2	0.8203625918029007	CP, PARK7
C1846154	XX	e	Anterior rib cupping	2/117	11/4277	0.0347300492454028	n.a	2	0.8203625918029007	AIFM1, CFAP410
C0424304	XX	e	Inappropriate laughter	2/117	11/4277	0.0347300492454028	n.a	2	0.8203625918029007	MAPT, PSEN1
C1866010	XX	e	Proximal muscle weakness in lower limbs	2/117	11/4277	0.0347300492454028	n.a	2	0.8203625918029007	CHCHD10, SORD
C4023012	XX	e	Abnormal natural killer cell physiology	2/117	11/4277	0.0347300492454028	n.a	2	0.8203625918029007	PRKCD, XIAP
C0009812	XX	e	Constitutional symptom	16/117	341/4277	0.0350788613617706	n.a	16	0.826036592933831	ALB, ALDOB, ALS2, CCL2, CHMP2B, DPP6, HADHA, IL6, KIF5A, MAT1A, MMP2, SPG11, SQSTM1, TREM2, TTR, VCP
C0151313	XX	e	Sensory neuropathy	5/117	67/4277	0.035326775726049	n.a	5	0.82808157205484	AIFM1, CTSD, MTHFR, NEFH, SPG11
C4025838	XX	e	Abnormality of the pharynx	7/117	114/4277	0.0354770422716902	n.a	7	0.82808157205484	CREBBP, JAK3, MATR3, PNP, PRKCD, TP53, XIAP
C0042782	XX	e	Visceromegaly	18/117	404/4277	0.0354923208637756	n.a	18	0.82808157205484	ALDOB, APOA1, APOE, ARG1, CFAP410, DHFR, FGA, HADHA, HMOX1, IFNG, LAT, NOTCH1, PC, PNP, PRKCD, PYGL, TALDO1, XIAP
C0018965	XX	e	Hematuria	4/117	46/4277	0.0359093288008995	n.a	4	0.8352487916196993	APOA1, CFH, FGA, HMOX1
C4023643	XX	e	Abnormality of nucleobase metabolism	3/117	27/4277	0.0362023599232847	n.a	3	0.8394974072454375	ALDOB, PNP, PPARG
C4023679	XX	e	Abnormality of circulating protein level	14/117	289/4277	0.0366521016888903	n.a	14	0.8473431168562312	AIFM1, ALB, CHCHD10, CP, HNRNPA1, HNRNPA2B1, IFNG, MATR3, NEFH, PRKCD, SETX, SQSTM1, VCP, XIAP
C0038454	XX	e	Stroke	5/117	68/4277	0.0373259836437353	n.a	5	0.8603073684674274	APP, CST3, MTHFR, NOS3, TTR
C0850715	XX	e	Abnormality of blood and blood-forming tissues	30/117	776/4277	0.0383474318653481	n.a	30	0.8755491245682282	ALDOB, APOE, APP, BAX, CFH, CP, CREBBP, CST3, CYP2C9, DHFR, FGA, FIG4, GPX1, GSR, HMOX1, IFNG, JAK3, LAT, MTHFR, NOS3, NOTCH1, NR1H4, PLA2G4A, PLAT, PNP, PRKCD, TALDO1, TP53, VWF, XIAP
C0587955	XX	e	Abnormal urine cytology	4/117	47/4277	0.0384477264798564	n.a	4	0.8755491245682282	APOA1, CFH, FGA, HMOX1
C1851310	XX	e	Aplasia/hypoplasia of the femur	4/117	47/4277	0.0384477264798564	n.a	4	0.8755491245682282	AIFM1, CFAP410, MMP9, WNT7A
C4073150	XX	e	Abnormal consumption behavior	4/117	47/4277	0.0384477264798564	n.a	4	0.8755491245682282	GRN, IL6, MAPT, PSEN1
C1262477	XX	e	Weight loss	3/117	28/4277	0.039760044445953	n.a	3	0.8948656448651631	DCTN1, IL6, SNCA
C4023353	XX	e	Abnormality of coordination	24/117	589/4277	0.0402785097412713	n.a	24	0.8948656448651631	ARG1, ATG5, ATXN2, CHCHD10, CP, CREBBP, CTSD, DHFR, DLAT, FIG4, GFAP, GRN, HTT, KIF5A, MTHFR, NEFH, PNP, SETX, SLC6A1, SOD1, SPG11, SQSTM1, TTR, TUBA1A
C4025653	XX	e	Abnormality of serum amino acid levels	6/117	93/4277	0.0408293800568574	n.a	6	0.8948656448651631	APP, ARG1, MAT1A, MTHFR, NOS3, PC
C4531169	XX	e	Abnormal lymphocyte proliferation	2/117	12/4277	0.0409431033937781	n.a	2	0.8948656448651631	JAK3, PNP
C2937365	XX	e	Recurrent aphthous stomatitis	2/117	12/4277	0.0409431033937781	n.a	2	0.8948656448651631	IL6, PRKDC
C4025362	XX	e	Abnormality of the gastric mucosa	2/117	12/4277	0.0409431033937781	n.a	2	0.8948656448651631	IL1B, PLA2G4A
C3887784	XX	e	Decreased urine output	2/117	12/4277	0.0409431033937781	n.a	2	0.8948656448651631	AGT, CFH
C4531170	XX	e	Abnormal cell proliferation	2/117	12/4277	0.0409431033937781	n.a	2	0.8948656448651631	JAK3, PNP
C1851792	XX	e	Aplasia/Hypoplasia of the earlobes	2/117	12/4277	0.0409431033937781	n.a	2	0.8948656448651631	CREBBP, FIG4
C0155100	XX	e	Peripheral opacification of the cornea	2/117	12/4277	0.0409431033937781	n.a	2	0.8948656448651631	LDLR, MMP2
C0003460	XX	e	Anuria	2/117	12/4277	0.0409431033937781	n.a	2	0.8948656448651631	AGT, CFH
C0040034	XX	e	Thrombocytopenia	10/117	194/4277	0.0423511202604745	n.a	10	0.9229874518658152	APOE, CFH, DHFR, LAT, NOS3, PNP, PRKCD, TALDO1, VWF, XIAP
C4025699	XX	e	Abnormality of the stomach	6/117	94/4277	0.0426747069947686	n.a	6	0.9273823468634576	BAX, FIG4, IL1B, NEFH, PLA2G4A, TP53
C4025786	XX	e	Abnormality of the musculature of the hand	3/117	29/4277	0.0434886024234285	n.a	3	0.9292377364927824	ALS2, DCTN1, SPG11
C0338474	XX	e	CNS demyelination	3/117	29/4277	0.0434886024234285	n.a	3	0.9292377364927824	GFAP, MAT1A, TREM2
C0580317	XX	e	Abnormal platelet count	11/117	212/4277	0.0466525456164807	n.a	11	0.9292377364927824	APOE, CFH, DHFR, IFNG, LAT, NOS3, PNP, PRKCD, TALDO1, VWF, XIAP
C0020433	XX	e	Hyperbilirubinemia	4/117	50/4277	0.0466669527855312	n.a	4	0.9292377364927824	ABCC2, ALDOB, GPX1, GSR
C0015414	XX	e	Neoplasm of the eye	2/117	13/4277	0.0475382242853941	n.a	2	0.9292377364927824	IFNG, TP53
C4025039	XX	e	Abnormality of lower-limb metaphyses	2/117	13/4277	0.0475382242853941	n.a	2	0.9292377364927824	AIFM1, CFAP410
C4025209	XX	e	Abnormal facial expression	5/117	73/4277	0.048355460136148	n.a	5	0.9292377364927824	ATXN2, CREBBP, DCTN1, GLE1, MAPT
C4022001	XX	e	Abnormality of the cerebral vasculature	7/117	122/4277	0.0483959211518504	n.a	7	0.9292377364927824	APP, CST3, IL6, MTHFR, NOS3, PNP, TTR
C4024597	XX	e	Aplasia/Hypoplasia involving the pelvis	4/117	51/4277	0.0496079122783931	n.a	4	0.9292377364927824	AIFM1, CFAP410, MMP9, WNT7A
C4020949	XX	e	Abnormal emotion/affect behavior	13/117	272/4277	0.0506707165253648	n.a	13	0.9292377364927824	ARG1, CHMP2B, CREBBP, DCTN1, FIG4, GRIA3, GRN, MAPT, PSEN1, SLC1A2, SQSTM1, TARDBP, TBK1
C4025710	XX	e	Diminished movement	3/117	31/4277	0.0514494452333397	n.a	3	0.9292377364927824	AIFM1, MAPT, SNCA
C0035244	XX	e	Neoplasm of the respiratory system	3/117	31/4277	0.0514494452333397	n.a	3	0.9292377364927824	IFNG, PRKN, TP53
C0152025	XX	e	Polyneuropathy	4/117	52/4277	0.0526491278001234	n.a	4	0.9292377364927824	AIFM1, GSN, SETX, TTR
CN218435	XX	e	Spinal dysraphism	4/117	52/4277	0.0526491278001234	n.a	4	0.9292377364927824	CCL2, CREBBP, MTHFR, WNT7A
C3489733	XX	e	Oculomotor apraxia	4/117	52/4277	0.0526491278001234	n.a	4	0.9292377364927824	ATXN2, DLAT, SETX, SQSTM1
C0003090	XX	e	Ankylosis	2/117	14/4277	0.0544902457740345	n.a	2	0.9292377364927824	MMP2, WNT7A
C1832338	XX	e	Axonal loss	2/117	14/4277	0.0544902457740345	n.a	2	0.9292377364927824	FIG4, UBQLN2
C4024080	XX	e	Abnormality of the phalanges of the hallux	2/117	14/4277	0.0544902457740345	n.a	2	0.9292377364927824	ACTB, CREBBP
C1842552	XX	e	Limb-girdle muscle atrophy	2/117	14/4277	0.0544902457740345	n.a	2	0.9292377364927824	HNRNPA1, VCP
C0035304	XX	e	Retinal degeneration	8/117	138/4277	0.05454119004801	n.a	8	0.9292377364927824	APOE, CFAP410, CFH, CP, CST3, CTSD, SPG11, TUBB4B
C4023591	XX	e	Abnormality of circulating enzyme level	9/117	174/4277	0.0546107373405566	n.a	9	0.9292377364927824	AIFM1, CHCHD10, HNRNPA1, HNRNPA2B1, MATR3, NEFH, SETX, SQSTM1, VCP
C0241005	XX	e	Elevated serum creatine phosphokinase	9/117	174/4277	0.0546107373405566	n.a	9	0.9292377364927824	AIFM1, CHCHD10, HNRNPA1, HNRNPA2B1, MATR3, NEFH, SETX, SQSTM1, VCP
C0234146	XX	e	Areflexia	9/117	174/4277	0.0546107373405566	n.a	9	0.9292377364927824	AIFM1, CHCHD10, FIG4, GLE1, SETX, SPG11, SQSTM1, VAPB, VCP
C4022449	XX	e	Abnormal levels of creatine kinase in blood	9/117	174/4277	0.0546107373405566	n.a	9	0.9292377364927824	AIFM1, CHCHD10, HNRNPA1, HNRNPA2B1, MATR3, NEFH, SETX, SQSTM1, VCP
C0003507	XX	e	Aortic valve stenosis	3/117	32/4277	0.0556766324752488	n.a	3	0.9374230318929544	ACTB, NOTCH1, VWF
C3887611	XX	e	Restlessness	3/117	32/4277	0.0556766324752488	n.a	3	0.9374230318929544	CHMP2B, GRN, HTT
C1836184	XX	e	Short femoral neck	3/117	32/4277	0.0556766324752488	n.a	3	0.9374230318929544	AIFM1, CFAP410, MMP9
C4531030	XX	e	Abnormal neural tube morphology	4/117	53/4277	0.055790221231192	n.a	4	0.9374230318929544	CCL2, CREBBP, MTHFR, WNT7A
C0027794	XX	e	Neural tube defect	4/117	53/4277	0.055790221231192	n.a	4	0.9374230318929544	CCL2, CREBBP, MTHFR, WNT7A
C0038002	XX	e	Splenomegaly	11/117	226/4277	0.0558312691884707	n.a	11	0.9374230318929544	APOA1, APOE, CFAP410, FGA, IFNG, LAT, NOTCH1, PNP, PRKCD, TALDO1, XIAP
C1866772	XX	e	Abnormal nerve conduction velocity	5/117	77/4277	0.058433626170455	n.a	5	0.9725298920185582	FIG4, MATR3, SETX, SIGMAR1, SORD
C3163798	XX	e	Recurrent lower respiratory tract infections	5/117	77/4277	0.058433626170455	n.a	5	0.9725298920185582	CFAP410, JAK3, PNP, PRKCD, PRKDC
C1857640	XX	e	Decreased nerve conduction velocity	5/117	77/4277	0.058433626170455	n.a	5	0.9725298920185582	FIG4, MATR3, SETX, SIGMAR1, SORD
C0025289	XX	e	Meningitis	3/117	33/4277	0.0600645424547078	n.a	3	0.9909998045781084	JAK3, TBK1, XIAP
C0221373	XX	e	Split hand	3/117	33/4277	0.0600645424547078	n.a	3	0.9909998045781084	MMP2, SIGMAR1, WNT7A
C4025714	XX	e	Abnormality of the autonomic nervous system	5/117	78/4277	0.0611281774392822	n.a	5	1.0	ATXN2, CREBBP, MAPT, SNCA, TTR
C0149871	XX	e	Deep venous thrombosis	2/117	15/4277	0.0617750721303436	n.a	2	1.0	MTHFR, PLAT
C0265554	XX	e	Ectrodactyly	3/117	34/4277	0.0646100735352257	n.a	3	1.0	MMP2, SIGMAR1, WNT7A
C0850703	XX	e	Frequent falls	3/117	34/4277	0.0646100735352257	n.a	3	1.0	ARG1, FIG4, NEFH
C0149632	XX	e	Abnormality of the bladder	10/117	200/4277	0.0691649070340084	n.a	10	1.0	ALS2, ATXN2, CCL2, CHMP2B, KIF5A, MAPT, SNCA, SPG11, SQSTM1, TTR
C0004114	XX	e	Astrocytoma	2/117	16/4277	0.0693696391264521	n.a	2	1.0	IFNG, TP53
C0025299	XX	e	Meningocele	2/117	16/4277	0.0693696391264521	n.a	2	1.0	CCL2, WNT7A
C1856409	XX	e	Dilation of lateral ventricles	2/117	16/4277	0.0693696391264521	n.a	2	1.0	GRN, NEK1
C0566888	XX	e	Narrow greater sacrosciatic notches	2/117	16/4277	0.0693696391264521	n.a	2	1.0	CFAP410, PCYT1A
C0751093	XX	e	Limb dystonia	2/117	16/4277	0.0693696391264521	n.a	2	1.0	MAPT, PARK7
C0392557	XX	e	Nuclear cataract	2/117	16/4277	0.0693696391264521	n.a	2	1.0	CFAP410, VIM
C4021660	XX	e	Abnormality of sulfur amino acid metabolism	2/117	16/4277	0.0693696391264521	n.a	2	1.0	MAT1A, MTHFR
C4020690	XX	e	Abnormality of peripheral nerve conduction	5/117	81/4277	0.0696305699538518	n.a	5	1.0	FIG4, MATR3, SETX, SIGMAR1, SORD
C4024594	XX	e	Aplasia/Hypoplasia involving the femoral head and neck	3/117	36/4277	0.0741606851296289	n.a	3	1.0	AIFM1, CFAP410, MMP9
C4023998	XX	e	Abnormality of the phalanges of the toes	3/117	36/4277	0.0741606851296289	n.a	3	1.0	ACTB, CREBBP, WNT7A
C0332573	XX	e	Macule	5/117	83/4277	0.0756457108593393	n.a	5	1.0	CREBBP, IFNG, IL6, MMP2, PRKCD
C4022400	XX	e	Abnormality of peripheral nerves	5/117	83/4277	0.0756457108593393	n.a	5	1.0	FIG4, MATR3, SETX, SIGMAR1, SORD
C0020651	XX	e	Orthostatic hypotension	2/117	17/4277	0.0772518764145431	n.a	2	1.0	SNCA, TTR
C0152013	XX	e	Lung adenocarcinoma	2/117	17/4277	0.0772518764145431	n.a	2	1.0	PRKN, TP53
C0740394	XX	e	Hyperuricemia	2/117	17/4277	0.0772518764145431	n.a	2	1.0	ALDOB, PPARG
C0007131	XX	e	Non-small cell lung cancer	2/117	17/4277	0.0772518764145431	n.a	2	1.0	PRKN, TP53
C0011581	XX	e	Depressivity	5/117	85/4277	0.0819355166806369	n.a	5	1.0	ATXN2, DCTN1, HTT, MAPT, SNCA
C4021228	XX	e	Gonadal neoplasm	3/117	38/4277	0.084300274606345	n.a	3	1.0	CREBBP, PRKN, TP53
C0239138	XX	e	Coxa vara	3/117	38/4277	0.084300274606345	n.a	3	1.0	AIFM1, CFAP410, PCYT1A
C1136179	XX	e	Hammertoe	3/117	38/4277	0.084300274606345	n.a	3	1.0	CHCHD10, SIGMAR1, VCP
C0086439	XX	e	Hypokinesia	2/117	18/4277	0.0854006711695106	n.a	2	1.0	AIFM1, SNCA
C0021843	XX	e	Intestinal obstruction	2/117	18/4277	0.0854006711695106	n.a	2	1.0	IL6, JAK3
C4023033	XX	e	Abnormal number of erythroid precursors	2/117	18/4277	0.0854006711695106	n.a	2	1.0	PNP, TP53
C0034372	XX	e	Tetraplegia	2/117	18/4277	0.0854006711695106	n.a	2	1.0	AIFM1, ALS2
C1260959	XX	e	Drusen	2/117	18/4277	0.0854006711695106	n.a	2	1.0	APOE, CFH
C1837082	XX	e	Metaphyseal cupping	2/117	18/4277	0.0854006711695106	n.a	2	1.0	AIFM1, PCYT1A
C4023822	XX	e	Abnormality of the greater sacrosciatic notch	2/117	18/4277	0.0854006711695106	n.a	2	1.0	CFAP410, PCYT1A
C0001144	XX	e	Acne	2/117	18/4277	0.0854006711695106	n.a	2	1.0	PSEN1, XIAP
C0024437	XX	e	Macular degeneration	4/117	62/4277	0.0884424518747964	n.a	4	1.0	APOE, CFH, CST3, SPG11
C0149727	XX	e	Abnormality of the lymph nodes	5/117	87/4277	0.0884967151611593	n.a	5	1.0	JAK3, LAT, PNP, PRKCD, XIAP
C4025731	XX	e	Abnormal thrombosis	3/117	39/4277	0.0895815280489243	n.a	3	1.0	MTHFR, NOTCH1, PLAT
C4023758	XX	e	Abnormality of the meninges	3/117	39/4277	0.0895815280489243	n.a	3	1.0	CCL2, TTR, WNT7A
C1838662	XX	e	Metaphyseal irregularity	3/117	39/4277	0.0895815280489243	n.a	3	1.0	CFAP410, MMP9, PCYT1A
C0266463	XX	e	Lissencephaly	5/117	88/4277	0.0918778691972571	n.a	5	1.0	ACTB, FIG4, NEK1, PRKDC, TUBA1A
C0476403	XX	e	EMG abnormality	4/117	63/4277	0.0925399466527786	n.a	4	1.0	ALS2, NEFH, SQSTM1, VAPB
C0008370	XX	e	Cholestasis	7/117	132/4277	0.0925780860452407	n.a	7	1.0	ABCC2, ALDOB, APOA1, ARG1, DHFR, FGA, NR1H4
C0236124	XX	e	Gastrointestinal obstruction	2/117	19/4277	0.0937958329487316	n.a	2	1.0	IL6, JAK3
C2673700	XX	e	Brisk reflexes	2/117	19/4277	0.0937958329487316	n.a	2	1.0	GLE1, PARK7
C0432073	XX	e	Decreased skull ossification	2/117	19/4277	0.0937958329487316	n.a	2	1.0	FIG4, WNT7A
C0002874	XX	e	Aplastic anemia	2/117	19/4277	0.0937958329487316	n.a	2	1.0	IFNG, XIAP
C1865841	XX	e	Flared iliac wings	2/117	19/4277	0.0937958329487316	n.a	2	1.0	AIFM1, CREBBP
C4025334	XX	e	Abnormality of glycolysis	2/117	19/4277	0.0937958329487316	n.a	2	1.0	AIFM1, PC
C1849134	XX	e	Impaired vibration sensation in the lower limbs	2/117	19/4277	0.0937958329487316	n.a	2	1.0	KIF5A, SPG11
C1849488	XX	e	Increased serum pyruvate	2/117	19/4277	0.0937958329487316	n.a	2	1.0	AIFM1, PC
C1861218	XX	e	Hypoplastic ilia	3/117	40/4277	0.0949985125964296	n.a	3	1.0	CREBBP, PCYT1A, WNT7A
C4531031	XX	e	Abnormal liver morphology	18/117	457/4277	0.0960296238648351	n.a	18	1.0	ALDOB, APOA1, APOE, ARG1, DHFR, FGA, HADHA, HMOX1, IFNG, NEK1, NR1H4, PC, PPARG, PRKCD, PYGL, TALDO1, TP53, XIAP
C1862474	XX	e	Decreased facial expression	4/117	64/4277	0.0967269465068486	n.a	4	1.0	ATXN2, DCTN1, GLE1, MAPT
C0003578	XX	e	Apnea	7/117	135/4277	0.0974018729222145	n.a	7	1.0	CREBBP, CTSD, DCTN1, KIF5A, NEFH, PRPH, SOD1
C4759823	XX	e	CNS infection	3/117	41/4277	0.1005471821575525	n.a	3	1.0	JAK3, TBK1, XIAP
C1836393	XX	e	Abnormality of ocular smooth pursuit	3/117	41/4277	0.1005471821575525	n.a	3	1.0	ALS2, ATXN2, SETX
C0027726	XX	e	Nephrotic syndrome	4/117	65/4277	0.1010020386769879	n.a	4	1.0	APOA1, FGA, GSN, PRKCD
C0002880	XX	e	Autoimmune hemolytic anemia	2/117	20/4277	0.1024180597359578	n.a	2	1.0	PNP, PRKCD
C0151480	XX	e	Antinuclear antibody positivity	2/117	20/4277	0.1024180597359578	n.a	2	1.0	MMP2, PRKCD
C4023752	XX	e	Abnormality of the diencephalon	2/117	20/4277	0.1024180597359578	n.a	2	1.0	GSX2, TREM2
C1408258	XX	e	Nephropathy	2/117	20/4277	0.1024180597359578	n.a	2	1.0	APOA1, FGA
C0038362	XX	e	Stomatitis	2/117	20/4277	0.1024180597359578	n.a	2	1.0	IL6, PRKDC
C0242584	XX	e	Autoimmune thrombocytopenia	2/117	20/4277	0.1024180597359578	n.a	2	1.0	PNP, PRKCD
C0410935	XX	e	Wide cranial sutures	2/117	20/4277	0.1024180597359578	n.a	2	1.0	AGT, MMP2
C4021663	XX	e	Abnormality of muscle fibers	7/117	139/4277	0.1046918057894194	n.a	7	1.0	AIFM1, HNRNPA1, HNRNPA2B1, MATR3, NEFH, SQSTM1, VCP
C4025650	XX	e	Abnormality of lipid metabolism	7/117	139/4277	0.1046918057894194	n.a	7	1.0	ALB, CFH, LDLR, PLA2G4A, PPARG, PYGL, XIAP
C3693260	XX	e	Abnormal urine output	3/117	42/4277	0.1062234142910584	n.a	3	1.0	AGT, CFH, IL6
C4023597	XX	e	Abnormality of blood glucose concentration	7/117	140/4277	0.1066639828355197	n.a	7	1.0	ALDOB, HADHA, IL6, NR1H4, PC, PPARG, PYGL
C1390214	XX	e	Internal hemorrhage	5/117	93/4277	0.1097655221007303	n.a	5	1.0	ALDOB, APOE, APP, CST3, VWF
C0017638	XX	e	Glioma	2/117	21/4277	0.1112489051171698	n.a	2	1.0	IFNG, TP53
C4023609	XX	e	Abnormality of the common coagulation pathway	2/117	21/4277	0.1112489051171698	n.a	2	1.0	FGA, XIAP
C0085631	XX	e	Agitation	2/117	21/4277	0.1112489051171698	n.a	2	1.0	GRN, HTT
C0009676	XX	e	Confusion	2/117	21/4277	0.1112489051171698	n.a	2	1.0	FIG4, TBK1
C0272242	XX	e	Complement deficiency	2/117	21/4277	0.1112489051171698	n.a	2	1.0	CFH, PRKCD
C0018989	XX	e	Hemiparesis	3/117	43/4277	0.1120230223791361	n.a	3	1.0	CFH, TBK1, TTR
C0007134	XX	e	Renal cell carcinoma	3/117	43/4277	0.1120230223791361	n.a	3	1.0	BAX, IFNG, TP53
C0020305	XX	e	Hydrops fetalis	3/117	43/4277	0.1120230223791361	n.a	3	1.0	FIG4, HADHA, NEK1
C4025663	XX	e	Abnormality of tibia morphology	3/117	43/4277	0.1120230223791361	n.a	3	1.0	AIFM1, NEK1, PCYT1A
C4023585	XX	e	Abnormality of blood circulation	5/117	94/4277	0.1135346690165286	n.a	5	1.0	ALDOB, APOE, APP, CST3, VWF
C0853150	XX	e	Abnormality of peripheral nervous system electrophysiology	5/117	94/4277	0.1135346690165286	n.a	5	1.0	FIG4, MATR3, SETX, SIGMAR1, SORD
C5139055	XX	e	Abnormality of dicarboxylic acid metabolism	4/117	68/4277	0.1143408244948308	n.a	4	1.0	ABCC2, ALDOB, GPX1, GSR
C0005779	XX	e	Abnormality of the coagulation cascade	4/117	68/4277	0.1143408244948308	n.a	4	1.0	FGA, NR1H4, VWF, XIAP
C4023587	XX	e	Abnormality of cardiovascular system physiology	24/117	648/4277	0.1153638167517207	n.a	24	1.0	ACTB, AGT, ALB, ALDOB, APOA1, APOE, APP, CFH, CREBBP, CST3, DPP6, FGA, FIG4, HADHA, IFNG, MTHFR, NEK1, NOS3, NOTCH1, PPARG, PSEN1, SNCA, TTR, VWF
C4021755	XX	e	Abnormality of midbrain morphology	3/117	44/4277	0.1179417670869646	n.a	3	1.0	ATXN2, MAPT, PRKN
C0030232	XX	e	Pallor	3/117	44/4277	0.1179417670869646	n.a	3	1.0	ALS2, DHFR, KIF5A
C0015230	XX	e	Skin rash	3/117	44/4277	0.1179417670869646	n.a	3	1.0	APOA1, FGA, IFNG
C4023579	XX	e	Abnormality of renal excretion	3/117	44/4277	0.1179417670869646	n.a	3	1.0	AGT, CFH, IL6
C0030312	XX	e	Pancytopenia	4/117	69/4277	0.1189529602206959	n.a	4	1.0	DHFR, IFNG, TALDO1, XIAP
C4025686	XX	e	Abnormality of skull ossification	2/117	22/4277	0.1202707465800339	n.a	2	1.0	FIG4, WNT7A
C1865027	XX	e	Hypoplastic iliac wing	2/117	22/4277	0.1202707465800339	n.a	2	1.0	CREBBP, WNT7A
C0231531	XX	e	Muscle fibrillation	2/117	22/4277	0.1202707465800339	n.a	2	1.0	CCNF, OPTN
C0679347	XX	e	Genital neoplasm	4/117	70/4277	0.1236452563158908	n.a	4	1.0	BAX, CREBBP, PRKN, TP53
C0578878	XX	e	Inflammation of the large intestine	3/117	45/4277	0.1239753671224852	n.a	3	1.0	ABCB1, IL6, XIAP
C4023156	XX	e	Abnormality of the wing of the ilium	3/117	45/4277	0.1239753671224852	n.a	3	1.0	AIFM1, CREBBP, WNT7A
C0080178	XX	e	Spina bifida	3/117	45/4277	0.1239753671224852	n.a	3	1.0	CCL2, CREBBP, WNT7A
C3150086	XX	e	Aplasia/Hypoplasia of the nipples	2/117	23/4277	0.1294667548648884	n.a	2	1.0	FIG4, WNT7A
C1806780	XX	e	Increased CSF protein	2/117	23/4277	0.1294667548648884	n.a	2	1.0	GFAP, TTR
C4024756	XX	e	Abnormality of macular pigmentation	2/117	23/4277	0.1294667548648884	n.a	2	1.0	APOE, PCYT1A
C0020456	XX	e	Hyperglycemia	2/117	23/4277	0.1294667548648884	n.a	2	1.0	IL6, PPARG
C4025213	XX	e	Abnormality of complement system	2/117	23/4277	0.1294667548648884	n.a	2	1.0	CFH, PRKCD
C1314665	XX	e	Elevated alkaline phosphatase	3/117	46/4277	0.1301195093304081	n.a	3	1.0	HNRNPA1, SQSTM1, VCP
C0220994	XX	e	Hyperammonemia	3/117	46/4277	0.1301195093304081	n.a	3	1.0	ARG1, HADHA, NR1H4
C4025836	XX	e	Abnormality of the choroid	4/117	72/4277	0.1332633436233294	n.a	4	1.0	ACTB, APOE, CREBBP, DPP6
C1866141	XX	e	Foot dorsiflexor weakness	3/117	47/4277	0.1363698581602308	n.a	3	1.0	SIGMAR1, SPG11, SQSTM1
C1839364	XX	e	Progressive visual loss	3/117	47/4277	0.1363698581602308	n.a	3	1.0	APOE, CFH, PCYT1A
C4023011	XX	e	Craniofacial dystonia	3/117	47/4277	0.1363698581602308	n.a	3	1.0	CP, MAPT, PARK7
C4020755	XX	e	Abnormality of fontanelles	6/117	117/4277	0.1369699073743499	n.a	6	1.0	AGT, CREBBP, CTSD, FIG4, MMP2, TALDO1
C4048270	XX	e	Decreased antibody level in blood	6/117	117/4277	0.1369699073743499	n.a	6	1.0	JAK3, LAT, NFE2L2, PRKCD, TP53, XIAP
C1849242	XX	e	Abnormality of B cell physiology	8/117	167/4277	0.1375269222058674	n.a	8	1.0	JAK3, LAT, NFE2L2, PNP, PRKCD, SETX, TP53, XIAP
C2700617	XX	e	Irritability	4/117	73/4277	0.13818553976787	n.a	4	1.0	ARG1, MAPT, PSEN1, SLC1A2
C2937358	XX	e	Cerebral hemorrhage	2/117	24/4277	0.1388208643744146	n.a	2	1.0	APP, CST3
C4551564	XX	e	Narrow nasal bridge	2/117	24/4277	0.1388208643744146	n.a	2	1.0	CREBBP, MMP2
C0042384	XX	e	Vasculitis	2/117	24/4277	0.1388208643744146	n.a	2	1.0	PNP, XIAP
C1856694	XX	e	Areflexia of lower limbs	2/117	24/4277	0.1388208643744146	n.a	2	1.0	GLE1, SQSTM1
C1836696	XX	e	Lower limb hyperreflexia	2/117	24/4277	0.1388208643744146	n.a	2	1.0	APOE, PSEN1
C4021985	XX	e	Germ cell neoplasia	2/117	24/4277	0.1388208643744146	n.a	2	1.0	PRKN, TP53
C0035300	XX	e	Abnormal retinal morphology	19/117	496/4277	0.1408018916838809	n.a	19	1.0	ACTB, AHR, APOE, ATXN2, CFAP410, CFH, CP, CREBBP, CST3, CTSD, DPP6, GRN, HADHA, IFNG, NEK1, PCYT1A, SPG11, TP53, TUBB4B
C0020557	XX	e	Hypertriglyceridemia	3/117	48/4277	0.1427220645286483	n.a	3	1.0	PPARG, PYGL, XIAP
C1853193	XX	e	Recurrent skin infections	3/117	48/4277	0.1427220645286483	n.a	3	1.0	NFE2L2, PSEN1, XIAP
C4021746	XX	e	Abnormality of the ilium	4/117	74/4277	0.1431807124710856	n.a	4	1.0	AIFM1, CREBBP, PCYT1A, WNT7A
C4021764	XX	e	Abnormality of the abdominal organs	23/117	628/4277	0.143507840434069	n.a	23	1.0	ABCC2, ALDOB, APOA1, APOE, ARG1, CFAP410, DHFR, FGA, HADHA, HMOX1, IFNG, LAT, NEK1, NOTCH1, NR1H4, PC, PNP, PPARG, PRKCD, PYGL, TALDO1, TP53, XIAP
C0026826	XX	e	Hypertonia	23/117	632/4277	0.1449972503837021	n.a	23	1.0	ALS2, ANG, APOE, ARG1, ATXN2, CTSD, DCTN1, GFAP, GSX2, HTT, KIF5A, NEFH, PFN1, PNP, PRPH, PSEN1, SIGMAR1, SLC1A2, SOD1, SPG11, TARDBP, TTR, TUBA1A
C2021655	XX	e	Anencephaly	2/117	25/4277	0.1483177445673226	n.a	2	1.0	CCL2, FIG4
C4280754	XX	e	Abnormal tongue physiology	2/117	25/4277	0.1483177445673226	n.a	2	1.0	ALS2, OPTN
C1858127	XX	e	Limb-girdle muscle weakness	2/117	25/4277	0.1483177445673226	n.a	2	1.0	MATR3, VCP
C4476789	XX	e	Abnormal CSF protein level	2/117	25/4277	0.1483177445673226	n.a	2	1.0	GFAP, TTR
C0001126	XX	e	Renal tubular acidosis	2/117	25/4277	0.1483177445673226	n.a	2	1.0	ALDOB, PC
C0750937	XX	e	Limb ataxia	3/117	49/4277	0.1491717741004302	n.a	3	1.0	ATXN2, SETX, SQSTM1
C0375206	XX	e	Hemiplegia/hemiparesis	3/117	50/4277	0.155714635034253	n.a	3	1.0	CFH, TBK1, TTR
C4476768	XX	e	Abnormal larynx morphology	3/117	50/4277	0.155714635034253	n.a	3	1.0	CREBBP, MATR3, NEK1
C0743332	XX	e	Focal dystonia	3/117	50/4277	0.155714635034253	n.a	3	1.0	CP, MAPT, PARK7
C0002871	XX	e	Anemia	13/117	327/4277	0.1565630020182304	n.a	13	1.0	CFH, CP, DHFR, GPX1, GSR, HMOX1, IFNG, LAT, PLA2G4A, PNP, PRKCD, TALDO1, TP53
C4022922	XX	e	Abnormal enzyme/coenzyme activity	10/117	242/4277	0.1577133875837989	n.a	10	1.0	ALDOB, CAT, HADHA, HNRNPA1, NOS3, NR1H4, PRKCD, PYGL, SQSTM1, VCP
C4021661	XX	e	Abnormality of macrophages	2/117	26/4277	0.1579427723374792	n.a	2	1.0	APOE, XIAP
C4721411	XX	e	Osteolysis	2/117	26/4277	0.1579427723374792	n.a	2	1.0	MMP2, SQSTM1
C1321329	XX	e	Slow saccadic eye movements	2/117	26/4277	0.1579427723374792	n.a	2	1.0	ALS2, ATXN2
C0030486	XX	e	Paraplegia	4/117	77/4277	0.1585850892588289	n.a	4	1.0	ALS2, KIF5A, SPG11, TTR
C1849039	XX	e	Metaphyseal widening	4/117	77/4277	0.1585850892588289	n.a	4	1.0	AIFM1, MMP2, MMP9, PCYT1A
C4531142	XX	e	Abnormal lymphocyte physiology	8/117	183/4277	0.162059742390429	n.a	8	1.0	JAK3, LAT, NFE2L2, PNP, PRKCD, SETX, TP53, XIAP
C4025828	XX	e	Abnormality of the scapula	4/117	78/4277	0.1638530304387389	n.a	4	1.0	ACTB, FIG4, SQSTM1, VCP
C1842774	XX	e	Hypermelanotic macule	4/117	78/4277	0.1638530304387389	n.a	4	1.0	CREBBP, IFNG, IL6, MMP2
C4025899	XX	e	Abnormality of male internal genitalia	2/117	27/4277	0.167682005331158	n.a	2	1.0	CREBBP, TP53
C4021778	XX	e	Abnormality of the shoulder girdle musculature	3/117	52/4277	0.1690624589259275	n.a	3	1.0	MATR3, SQSTM1, VCP
C1846821	XX	e	Abnormality of coagulation	4/117	79/4277	0.1691842521509768	n.a	4	1.0	FGA, NR1H4, VWF, XIAP
C3150510	XX	e	Abnormality of humoral immunity	8/117	188/4277	0.1726893689087479	n.a	8	1.0	CFH, JAK3, LAT, NFE2L2, PRKCD, SETX, TP53, XIAP
C0221629	XX	e	Proximal muscle weakness	6/117	131/4277	0.1727737952691611	n.a	6	1.0	CHCHD10, HNRNPA1, NEFH, SORD, VAPB, VCP
C4025328	XX	e	Abnormality of alkaline phosphatase activity	3/117	53/4277	0.1758587931866729	n.a	3	1.0	HNRNPA1, SQSTM1, VCP
C1855853	XX	e	Impaired platelet aggregation	2/117	28/4277	0.1775221561671761	n.a	2	1.0	PLA2G4A, VWF
C0023269	XX	e	Leiomyosarcoma	2/117	28/4277	0.1775221561671761	n.a	2	1.0	BAX, TP53
C0080174	XX	e	Spina bifida occulta	2/117	28/4277	0.1775221561671761	n.a	2	1.0	CCL2, CREBBP
C1861821	XX	e	Zonular cataract	2/117	28/4277	0.1775221561671761	n.a	2	1.0	CFAP410, VIM
C0034194	XX	e	Pyloric stenosis	2/117	28/4277	0.1775221561671761	n.a	2	1.0	FIG4, NEFH
C0541767	XX	e	Abnormal platelet aggregation	2/117	28/4277	0.1775221561671761	n.a	2	1.0	PLA2G4A, VWF
C0280631	XX	e	Uterine leiomyosarcoma	2/117	28/4277	0.1775221561671761	n.a	2	1.0	BAX, TP53
C0282607	XX	e	Vascular neoplasm	3/117	54/4277	0.1827310334758885	n.a	3	1.0	CREBBP, IFNG, NOTCH1
C0035229	XX	e	Respiratory insufficiency	11/117	277/4277	0.1827536653797987	n.a	11	1.0	AGT, AIFM1, CTSD, DCTN1, ERBB4, GLE1, HADHA, MATR3, NEK1, SPG11, TARDBP
C4476887	XX	e	Abnormal systemic blood pressure	9/117	208/4277	0.1838371396907849	n.a	9	1.0	AGT, ALB, APOA1, CFH, FGA, NOS3, PPARG, SNCA, TTR
C0347509	XX	e	Benign neoplasm of the central nervous system	2/117	29/4277	0.1874505675549914	n.a	2	1.0	IFNG, TP53
C0855740	XX	e	Abnormal platelet function	2/117	29/4277	0.1874505675549914	n.a	2	1.0	PLA2G4A, VWF
C4022662	XX	e	Abnormality of lateral ventricle	2/117	29/4277	0.1874505675549914	n.a	2	1.0	GRN, NEK1
C0520966	XX	e	Incoordination	5/117	97/4277	0.19098368826801	n.a	5	1.0	ARG1, CREBBP, FIG4, MTHFR, NEFH
C0581381	XX	e	Recurrent upper respiratory tract infections	5/117	97/4277	0.19098368826801	n.a	5	1.0	CREBBP, JAK3, PNP, PRKCD, XIAP
C1535950	XX	e	Gastrointestinal inflammation	3/117	56/4277	0.1966863083710655	n.a	3	1.0	ABCB1, IL6, XIAP
C4024993	XX	e	Aplasia/Hypoplasia of the clavicles	2/117	30/4277	0.1974551882495936	n.a	2	1.0	FIG4, WNT7A
C4023792	XX	e	Paraplegia/paraparesis	5/117	101/4277	0.2003188529776372	n.a	5	1.0	ALS2, ARG1, KIF5A, SPG11, TTR
C0007758	XX	e	Cerebellar ataxia	19/117	531/4277	0.201020429995461	n.a	19	1.0	ATG5, ATXN2, CHCHD10, CP, CTSD, DHFR, DLAT, GFAP, GRN, HTT, KIF5A, PNP, SETX, SLC6A1, SOD1, SPG11, SQSTM1, TTR, TUBA1A
C0270612	XX	e	Leukoencephalopathy	5/117	102/4277	0.202915260187411	n.a	5	1.0	KIF5A, NFE2L2, PC, SPG11, TREM2
C0019214	XX	e	Hepatosplenomegaly	3/117	57/4277	0.2037609827570851	n.a	3	1.0	IFNG, PRKCD, TALDO1
C4025844	XX	e	Chorioretinal abnormality	3/117	57/4277	0.2037609827570851	n.a	3	1.0	ACTB, CREBBP, DPP6
C1145670	XX	e	Respiratory failure	3/117	57/4277	0.2037609827570851	n.a	3	1.0	CTSD, GLE1, HADHA
C4024989	XX	e	Hereditary nonpolyposis colorectal carcinoma	2/117	31/4277	0.2075245498375624	n.a	2	1.0	BAX, TP53
C0279680	XX	e	Transitional cell carcinoma of the bladder	2/117	31/4277	0.2075245498375624	n.a	2	1.0	BAX, TP53
C0004158	XX	e	Athetosis	2/117	31/4277	0.2075245498375624	n.a	2	1.0	KIF5A, UBQLN2
C4021808	XX	e	Abnormality of earlobe	2/117	31/4277	0.2075245498375624	n.a	2	1.0	CREBBP, FIG4
C4025326	XX	e	Abnormality of the pylorus	2/117	31/4277	0.2075245498375624	n.a	2	1.0	FIG4, NEFH
C0033687	XX	e	Proteinuria	5/117	106/4277	0.2142818190462178	n.a	5	1.0	APOA1, APOE, FGA, HMOX1, NOS3
C1859778	XX	e	Postnatal growth retardation	5/117	106/4277	0.2142818190462178	n.a	5	1.0	ACTB, ARG1, CREBBP, PCYT1A, PYGL
C0042065	XX	e	Neoplasm of the genitourinary tract	5/117	107/4277	0.2173572515364732	n.a	5	1.0	BAX, CREBBP, IFNG, PRKN, TP53
C0234533	XX	e	Generalized seizures	5/117	107/4277	0.2173572515364732	n.a	5	1.0	DHFR, GABRA1, GDI1, GRN, SLC6A1
C1271100	XX	e	Lower limb spasticity	5/117	107/4277	0.2173572515364732	n.a	5	1.0	ALS2, ARG1, KIF5A, SOD1, SPG11
C0699885	XX	e	Bladder carcinoma	2/117	32/4277	0.2176477443278865	n.a	2	1.0	BAX, TP53
C0206715	XX	e	Neuroepithelial neoplasm	2/117	32/4277	0.2176477443278865	n.a	2	1.0	IFNG, TP53
C0262655	XX	e	Recurrent urinary tract infections	2/117	32/4277	0.2176477443278865	n.a	2	1.0	PNP, PRKCD
C0023518	XX	e	Leukocytosis	3/117	59/4277	0.2180838554263261	n.a	3	1.0	IFNG, PRKCD, XIAP
C4025759	XX	e	Abnormality of the mitral valve	3/117	59/4277	0.2180838554263261	n.a	3	1.0	MMP2, NOTCH1, VWF
C1855755	XX	e	Abnormal immunoglobulin level	7/117	166/4277	0.2212026405572114	n.a	7	1.0	JAK3, LAT, NFE2L2, PRKCD, SETX, TP53, XIAP
C4021223	XX	e	Abnormality of the seventh cranial nerve	5/117	109/4277	0.2237728296970006	n.a	5	1.0	CHCHD10, DCTN1, GLE1, SQSTM1, VCP
C0376175	XX	e	Facial palsy	5/117	109/4277	0.2237728296970006	n.a	5	1.0	CHCHD10, DCTN1, GLE1, SQSTM1, VCP
C4021792	XX	e	Abnormality of the clavicle	3/117	60/4277	0.2253239902178773	n.a	3	1.0	FIG4, NEK1, WNT7A
C4023181	XX	e	Abnormality of muscle morphology	34/117	1032/4277	0.2276232674092184	n.a	34	1.0	AIFM1, ALS2, ANG, ATXN2, CCNF, CHCHD10, CP, CREBBP, DCTN1, FIG4, FUS, GLE1, HADHA, HNRNPA1, HNRNPA2B1, KIF5A, MAPT, MATR3, MMP2, NEFH, PFN1, PRPH, SETX, SIGMAR1, SLC1A2, SOD1, SORD, SPG11, SQSTM1, TARDBP, TBK1, VAPB, VCP, WNT7A
C0017181	XX	e	Gastrointestinal hemorrhage	2/117	33/4277	0.2278144025130938	n.a	2	1.0	ALDOB, VWF
C1839797	XX	e	Deep philtrum	2/117	33/4277	0.2278144025130938	n.a	2	1.0	CREBBP, TALDO1
C4022660	XX	e	Autoimmune antibody positivity	2/117	33/4277	0.2278144025130938	n.a	2	1.0	MMP2, PRKCD
C0005695	XX	e	Bladder neoplasm	2/117	33/4277	0.2278144025130938	n.a	2	1.0	BAX, TP53
C1843700	XX	e	Increased variability in muscle fiber diameter	2/117	33/4277	0.2278144025130938	n.a	2	1.0	NEFH, SQSTM1
C4021743	XX	e	Abnormality of the patella	2/117	33/4277	0.2278144025130938	n.a	2	1.0	CREBBP, WNT7A
C4023640	XX	e	Abnormality of the lower urinary tract	13/117	347/4277	0.2279191698528012	n.a	13	1.0	ALS2, ATXN2, CCL2, CHMP2B, CREBBP, FIG4, KIF5A, MAPT, SNCA, SPG11, SQSTM1, TTR, WNT7A
C4021777	XX	e	Abnormality of the larynx	3/117	61/4277	0.2326113099442177	n.a	3	1.0	CREBBP, MATR3, NEK1
C1837388	XX	e	Abnormal pattern of respiration	7/117	171/4277	0.2335833647479326	n.a	7	1.0	CREBBP, CTSD, DCTN1, KIF5A, NEFH, PRPH, SOD1
C0021051	XX	e	Immunodeficiency	5/117	112/4277	0.2340245444415076	n.a	5	1.0	JAK3, LAT, NFE2L2, PRKDC, XIAP
C0575158	XX	e	Kyphoscoliosis	5/117	112/4277	0.2340245444415076	n.a	5	1.0	ACTB, MAPT, MMP2, SLC1A2, SPG11
C0241665	XX	e	Abnormal venous morphology	2/117	34/4277	0.2380146730751086	n.a	2	1.0	PPARG, PRKCD
C0206093	XX	e	Neuroectodermal neoplasm	2/117	34/4277	0.2380146730751086	n.a	2	1.0	IFNG, TP53
C0027665	XX	e	Nervous tissue neoplasm	2/117	34/4277	0.2380146730751086	n.a	2	1.0	IFNG, TP53
C0234979	XX	e	Dysdiadochokinesis	2/117	34/4277	0.2380146730751086	n.a	2	1.0	ATXN2, SQSTM1
C0009319	XX	e	Colitis	2/117	34/4277	0.2380146730751086	n.a	2	1.0	IL6, XIAP
C4024995	XX	e	Abnormality of the atrioventricular valves	3/117	62/4277	0.2399419298478496	n.a	3	1.0	MMP2, NOTCH1, VWF
C0038220	XX	e	Status epilepticus	3/117	62/4277	0.2399419298478496	n.a	3	1.0	CTSD, FIG4, GABRA1
C4025360	XX	e	Functional motor deficit	8/117	189/4277	0.2466053920189949	n.a	8	1.0	ARG1, CHCHD10, FIG4, GLE1, NEFH, SETX, SORD, VCP
C4280730	XX	e	Abnormality of pulmonary circulation	3/117	63/4277	0.2473120290067405	n.a	3	1.0	FIG4, MTHFR, NOTCH1
C1837731	XX	e	Overfolded helix	2/117	35/4277	0.2482392024157435	n.a	2	1.0	ACTB, CREBBP
C3275417	XX	e	Ragged-red muscle fibers	2/117	35/4277	0.2482392024157435	n.a	2	1.0	AIFM1, NEFH
C4023615	XX	e	Abnormality of the level of lipoprotein cholesterol	2/117	35/4277	0.2482392024157435	n.a	2	1.0	LDLR, PPARG
C0040485	XX	e	Torticollis	2/117	35/4277	0.2482392024157435	n.a	2	1.0	CP, MAPT
C3553754	XX	e	Absent toe	2/117	35/4277	0.2482392024157435	n.a	2	1.0	FIG4, WNT7A
C4025622	XX	e	Abnormality of the femoral neck or head region	5/117	116/4277	0.2487743098800865	n.a	5	1.0	AIFM1, CFAP410, CREBBP, MMP9, PCYT1A
C5397581	XX	e	Increased antibody level in blood	3/117	64/4277	0.2547178527359895	n.a	3	1.0	PRKCD, SETX, XIAP
CN168062	XX	e	Abnormal renal physiology	11/117	285/4277	0.254768276867049	n.a	11	1.0	AGT, ALDOB, APOA1, APOE, CFH, FGA, GSN, HMOX1, IL6, PC, PRKCD
C4021780	XX	e	Abnormality of the liver	19/117	537/4277	0.2557366716299293	n.a	19	1.0	ABCC2, ALDOB, APOA1, APOE, ARG1, DHFR, FGA, HADHA, HMOX1, IFNG, NEK1, NR1H4, PC, PPARG, PRKCD, PYGL, TALDO1, TP53, XIAP
C0151311	XX	e	Cranial nerve paralysis	5/117	118/4277	0.2565736849067675	n.a	5	1.0	CHCHD10, DCTN1, GLE1, SQSTM1, VCP
C1859461	XX	e	Femoral bowing	2/117	36/4277	0.2584791151985389	n.a	2	1.0	PCYT1A, WNT7A
C3839753	XX	e	Abnormal toenail morphology	2/117	36/4277	0.2584791151985389	n.a	2	1.0	NOTCH1, WNT7A
C0678222	XX	e	Breast carcinoma	2/117	36/4277	0.2584791151985389	n.a	2	1.0	PRKN, TP53
C0685938	XX	e	Malignant gastrointestinal tract tumors	2/117	36/4277	0.2584791151985389	n.a	2	1.0	BAX, TP53
C4023051	XX	e	Abnormality of skeletal muscle fiber size	2/117	36/4277	0.2584791151985389	n.a	2	1.0	NEFH, SQSTM1
C0151544	XX	e	Gastrointestinal carcinoma	2/117	36/4277	0.2584791151985389	n.a	2	1.0	BAX, TP53
C0011253	XX	e	Delusions	2/117	36/4277	0.2584791151985389	n.a	2	1.0	MTHFR, SNCA
C4021781	XX	e	Abnormal nervous system electrophysiology	11/117	289/4277	0.2587411787350646	n.a	11	1.0	CREBBP, FIG4, GRN, MATR3, MTHFR, SETX, SIGMAR1, SLC1A2, SORD, TBK1, TREM2
C4476761	XX	e	Abnormal spleen morphology	11/117	291/4277	0.2610010831532735	n.a	11	1.0	APOA1, APOE, CFAP410, FGA, IFNG, LAT, NOTCH1, PNP, PRKCD, TALDO1, XIAP
C4025749	XX	e	Abnormality of the spleen	11/117	291/4277	0.2610010831532735	n.a	11	1.0	APOA1, APOE, CFAP410, FGA, IFNG, LAT, NOTCH1, PNP, PRKCD, TALDO1, XIAP
C4476974	XX	e	Abnormal uterus morphology	3/117	65/4277	0.2621557147073611	n.a	3	1.0	BAX, CREBBP, TP53
C0231686	XX	e	Unsteady gait	3/117	65/4277	0.2621557147073611	n.a	3	1.0	AIFM1, CREBBP, HTT
C4072991	XX	e	Yellow/white lesions of the retina	2/117	37/4277	0.2687259955501017	n.a	2	1.0	APOE, CFH
C0343149	XX	e	Contractures involving the joints of the feet	2/117	37/4277	0.2687259955501017	n.a	2	1.0	ALS2, MMP2
C0348374	XX	e	Malignant neoplasm of the central nervous system	2/117	37/4277	0.2687259955501017	n.a	2	1.0	IFNG, TP53
C4023601	XX	e	Abnormality of the musculature of the neck	2/117	37/4277	0.2687259955501017	n.a	2	1.0	CP, MAPT
C4025727	XX	e	Abnormality of the upper respiratory tract	8/117	204/4277	0.2692005914603328	n.a	8	1.0	CREBBP, JAK3, MATR3, NEK1, PNP, PRKCD, TP53, XIAP
C0234428	XX	e	Reduced consciousness/confusion	6/117	136/4277	0.2742920803728393	n.a	6	1.0	ALDOB, CFH, FIG4, SLC1A2, SNCA, TBK1
C0019158	XX	e	Hepatitis	2/117	38/4277	0.2789718689341912	n.a	2	1.0	TP53, XIAP
C1970777	XX	e	Abnormally folded helix	2/117	38/4277	0.2789718689341912	n.a	2	1.0	ACTB, CREBBP
C4023166	XX	e	Abnormality of T cell physiology	2/117	38/4277	0.2789718689341912	n.a	2	1.0	JAK3, PNP
CN008252	XX	e	Aplasia of the fingers	2/117	38/4277	0.2789718689341912	n.a	2	1.0	FIG4, WNT7A
C0311394	XX	e	Difficulty walking	4/117	80/4277	0.2810368478771954	n.a	4	1.0	CHCHD10, GLE1, SETX, SORD
C0019209	XX	e	Hepatomegaly	12/117	321/4277	0.2817909083825338	n.a	12	1.0	ALDOB, APOA1, ARG1, DHFR, FGA, HADHA, HMOX1, PC, PRKCD, PYGL, TALDO1, XIAP
C0234376	XX	e	Action tremor	4/117	82/4277	0.2861440226341963	n.a	4	1.0	ATXN2, FUS, PARK7, VAPB
C0026848	XX	e	Myopathy	6/117	143/4277	0.2873302564090427	n.a	6	1.0	HADHA, HNRNPA1, HNRNPA2B1, NEFH, SQSTM1, VCP
C1848701	XX	e	Elevated hepatic transaminases	6/117	144/4277	0.2895251468595116	n.a	6	1.0	ALDOB, HADHA, NOS3, NR1H4, PRKCD, PYGL
C0027651	XX	e	Neoplasm	16/117	464/4277	0.2936086646468271	n.a	16	1.0	BAX, CCL2, CREBBP, EWSR1, IFNG, IL1B, IL6, NEK1, NOTCH1, PNP, PRKCD, PRKN, SQSTM1, TAF15, TP53, XIAP
C0013604	XX	e	Edema	9/117	232/4277	0.2950411329116331	n.a	9	1.0	APOA1, FGA, FIG4, GLE1, HADHA, IL6, NEK1, NOS3, NR1H4
C4021976	XX	e	Abnormality of the lymphatic system	12/117	337/4277	0.2991165511040337	n.a	12	1.0	APOA1, APOE, CFAP410, FGA, IFNG, JAK3, LAT, NOTCH1, PNP, PRKCD, TALDO1, XIAP
C1260922	XX	e	Functional respiratory abnormality	22/117	659/4277	0.2992089693365046	n.a	22	1.0	AGT, AIFM1, CREBBP, CTSD, DCTN1, ERBB4, FIG4, GLE1, HADHA, HMOX1, KIF5A, MATR3, MTHFR, NEFH, NEK1, NOTCH1, PRPH, SOD1, SPG11, TALDO1, TARDBP, TNF
C4021252	XX	e	Abnormality of the epiphysis of the femoral head	2/117	40/4277	0.2994307989755847	n.a	2	1.0	AIFM1, CREBBP
C4021981	XX	e	Abnormality of the humeroradial joint	2/117	40/4277	0.2994307989755847	n.a	2	1.0	CREBBP, WNT7A
C0004368	XX	e	Autoimmunity	4/117	88/4277	0.3045710614444937	n.a	4	1.0	IL6, MMP2, PNP, PRKCD
C0391870	XX	e	Abnormality of erythrocytes	13/117	358/4277	0.3064954132956909	n.a	13	1.0	CFH, CP, DHFR, GPX1, GSR, HMOX1, IFNG, LAT, PLA2G4A, PNP, PRKCD, TALDO1, TP53
C1859523	XX	e	Contractures of the joints of the lower limbs	4/117	89/4277	0.3080518487278773	n.a	4	1.0	ALS2, FIG4, MMP2, SPG11
C4021762	XX	e	Abnormality of the cerebrum	41/117	1304/4277	0.3083655082239791	n.a	41	1.0	ACTB, AGT, AIFM1, ALS2, APOE, APP, ATXN2, CCL2, CHCHD10, CHMP2B, CREBBP, CTSD, DHFR, DLAT, DPP6, FIG4, GLE1, GRN, GSX2, HTT, IFNG, IGF1, KIF5A, MAPT, MTHFR, NEK1, NFE2L2, NOS3, PC, PRKDC, PRKN, PSEN1, SLC1A2, SNCA, SPG11, SQSTM1, TBK1, TP53, TREM2, TUBA1A, VCP
C4020967	XX	e	Abnormality of forebrain morphology	41/117	1310/4277	0.3094291331304282	n.a	41	1.0	ACTB, AGT, AIFM1, ALS2, APOE, APP, ATXN2, CCL2, CHCHD10, CHMP2B, CREBBP, CTSD, DHFR, DLAT, DPP6, FIG4, GLE1, GRN, GSX2, HTT, IFNG, IGF1, KIF5A, MAPT, MTHFR, NEK1, NFE2L2, NOS3, PC, PRKDC, PRKN, PSEN1, SLC1A2, SNCA, SPG11, SQSTM1, TBK1, TP53, TREM2, TUBA1A, VCP
C0240953	XX	e	Scapular winging	2/117	41/4277	0.3096299588117761	n.a	2	1.0	SQSTM1, VCP
C0151747	XX	e	Renal tubular dysfunction	2/117	41/4277	0.3096299588117761	n.a	2	1.0	ALDOB, PC
C4023709	XX	e	Sacrococcygeal pilonidal abnormality	2/117	41/4277	0.3096299588117761	n.a	2	1.0	CCL2, WNT7A
C4022603	XX	e	Abnormal vascular physiology	4/117	90/4277	0.3116390438446891	n.a	4	1.0	APP, FIG4, MTHFR, NOTCH1
C4023186	XX	e	Neoplasm by histology	6/117	154/4277	0.3155075080313161	n.a	6	1.0	BAX, EWSR1, IFNG, SQSTM1, TAF15, TP53
C1860236	XX	e	Irregular hyperpigmentation	4/117	92/4277	0.319117280123843	n.a	4	1.0	CREBBP, IFNG, IL6, MMP2
C0009404	XX	e	Neoplasm of the large intestine	2/117	42/4277	0.3198002860402487	n.a	2	1.0	BAX, TP53
C0151699	XX	e	Intracranial hemorrhage	2/117	42/4277	0.3198002860402487	n.a	2	1.0	APP, CST3
C0920299	XX	e	Overlapping toe	2/117	42/4277	0.3198002860402487	n.a	2	1.0	CREBBP, SOD1
C0239946	XX	e	Hepatic fibrosis	2/117	42/4277	0.3198002860402487	n.a	2	1.0	NEK1, TALDO1
C1844704	XX	e	Platyspondyly	4/117	93/4277	0.3230007747343469	n.a	4	1.0	AIFM1, CFAP410, NEK1, PCYT1A
C4018871	XX	e	Abnormality of the respiratory system	33/117	1042/4277	0.3265797005198361	n.a	33	1.0	AGT, AIFM1, CFAP410, CREBBP, CTSD, DCTN1, ERBB4, FIG4, GLE1, HADHA, HMOX1, IFNG, JAK3, KIF5A, LAT, MATR3, MTHFR, NEFH, NEK1, NFE2L2, NOTCH1, PNP, PRKCD, PRKDC, PRKN, PRPH, SOD1, SPG11, TALDO1, TARDBP, TNF, TP53, XIAP
C1846149	XX	e	Intellectual disability, progressive	2/117	43/4277	0.3299357623154894	n.a	2	1.0	AIFM1, CTSD
C4025621	XX	e	Abnormality of the femoral neck	4/117	97/4277	0.3394119003501216	n.a	4	1.0	AIFM1, CFAP410, MMP9, PCYT1A
C0022346	XX	e	Jaundice	4/117	97/4277	0.3394119003501216	n.a	4	1.0	ABCC2, ALDOB, DHFR, NR1H4
C0085669	XX	e	Acute leukemia	2/117	44/4277	0.3400307144697653	n.a	2	1.0	BAX, TP53
C4025034	XX	e	Abnormality of femoral epiphysis	2/117	44/4277	0.3400307144697653	n.a	2	1.0	AIFM1, CREBBP
C0013132	XX	e	Drooling	2/117	44/4277	0.3400307144697653	n.a	2	1.0	ALS2, DLAT
C0024299	XX	e	Lymphoma	2/117	44/4277	0.3400307144697653	n.a	2	1.0	PNP, XIAP
C0456132	XX	e	Large fontanelles	4/117	98/4277	0.3437162555327366	n.a	4	1.0	AGT, CREBBP, FIG4, TALDO1
C0580550	XX	e	Abnormal lymphocyte count	4/117	98/4277	0.3437162555327366	n.a	4	1.0	JAK3, PNP, PRKCD, XIAP
C4023024	XX	e	Abnormality of multiple cell lineages in the bone marrow	4/117	99/4277	0.3480943588675549	n.a	4	1.0	DHFR, IFNG, TALDO1, XIAP
C4021776	XX	e	Abnormality of the voice	7/117	183/4277	0.3485976662668957	n.a	7	1.0	ATXN2, DCTN1, MAPT, MATR3, NEFH, PRPH, SOD1
C0940767	XX	e	Abnormality of the biliary system	7/117	183/4277	0.3485976662668957	n.a	7	1.0	ABCC2, ALDOB, APOA1, ARG1, DHFR, FGA, NR1H4
C4021595	XX	e	Abnormality of lower limb epiphysis morphology	2/117	45/4277	0.3500798003945171	n.a	2	1.0	AIFM1, CREBBP
C4023185	XX	e	Neoplasm by anatomical site	15/117	439/4277	0.3529828583348735	n.a	15	1.0	BAX, CCL2, CREBBP, IFNG, IL1B, IL6, NEK1, NOTCH1, PNP, PRKCD, PRKN, SQSTM1, TAF15, TP53, XIAP
C3665386	XX	e	Visual loss	4/117	101/4277	0.3570585150403603	n.a	4	1.0	APOE, CFH, CTSD, PCYT1A
C0039446	XX	e	Telangiectasia	2/117	46/4277	0.3600779954406451	n.a	2	1.0	SETX, TALDO1
C4021773	XX	e	Abnormality of the hallux	4/117	103/4277	0.3662783648701924	n.a	4	1.0	ACTB, CREBBP, FIG4, NEK1
C1855728	XX	e	Low posterior hairline	2/117	47/4277	0.3700205793176735	n.a	2	1.0	ACTB, CREBBP
C0277828	XX	e	Delayed cranial suture closure	2/117	47/4277	0.3700205793176735	n.a	2	1.0	CREBBP, MMP2
C0021655	XX	e	Insulin resistance	2/117	47/4277	0.3700205793176735	n.a	2	1.0	IL6, PPARG
C4024659	XX	e	Aplasia/Hypoplasia involving the vertebral column	2/117	47/4277	0.3700205793176735	n.a	2	1.0	AIFM1, CCL2
C4025620	XX	e	Abnormality of the femoral head	2/117	47/4277	0.3700205793176735	n.a	2	1.0	AIFM1, CREBBP
C1866730	XX	e	Rhizomelia	2/117	47/4277	0.3700205793176735	n.a	2	1.0	CFAP410, PCYT1A
C4022607	XX	e	Abnormality of the posterior hairline	2/117	47/4277	0.3700205793176735	n.a	2	1.0	ACTB, CREBBP
C0037036	XX	e	Excessive salivation	2/117	48/4277	0.3799031234440638	n.a	2	1.0	ALS2, DLAT
C0011860	XX	e	Type 2 diabetes mellitus	2/117	48/4277	0.3799031234440638	n.a	2	1.0	IL6, PPARG
C3714772	XX	e	Episodic fever	2/117	48/4277	0.3799031234440638	n.a	2	1.0	PRKCD, XIAP
C0008489	XX	e	Chorea	5/117	120/4277	0.3833698891434299	n.a	5	1.0	CP, DLAT, HTT, KIF5A, SETX
C4021821	XX	e	Abnormality of the urinary system	33/117	1055/4277	0.384349517330566	n.a	33	1.0	AGT, ALDOB, ALS2, APOA1, APOE, ARG1, ATXN2, BAX, CCL2, CFH, CHMP2B, CREBBP, FGA, FIG4, GSN, HADHA, HMOX1, IFNG, IL6, KIF5A, MAPT, MTHFR, NEK1, NOS3, PC, PNP, PRKCD, SNCA, SPG11, SQSTM1, TP53, TTR, WNT7A
C1854510	XX	e	Abnormality of the cranial nerves	5/117	121/4277	0.385140928516432	n.a	5	1.0	CHCHD10, DCTN1, GLE1, SQSTM1, VCP
C4025814	XX	e	Abnormality of the metaphysis	5/117	121/4277	0.385140928516432	n.a	5	1.0	AIFM1, CFAP410, MMP2, MMP9, PCYT1A
C4021085	XX	e	Abnormality of brain morphology	50/117	1666/4277	0.3891717865764275	n.a	50	1.0	ACTB, AGT, AIFM1, ALS2, APOE, APP, ARG1, ATG5, ATXN2, CCL2, CHCHD10, CHMP2B, CREBBP, CST3, CTSD, DHFR, DLAT, DPP6, FIG4, GFAP, GLE1, GRN, GSX2, HTT, IFNG, IGF1, IL6, KIF5A, MAPT, MTHFR, NEK1, NFE2L2, NOS3, PC, PNP, PRKDC, PRKN, PSEN1, SETX, SLC1A2, SNCA, SOD1, SPG11, SQSTM1, TBK1, TP53, TREM2, TTR, TUBA1A, VCP
C0016522	XX	e	Patent foramen ovale	2/117	49/4277	0.3897214787352962	n.a	2	1.0	NOTCH1, TALDO1
C0034013	XX	e	Precocious puberty	2/117	49/4277	0.3897214787352962	n.a	2	1.0	CREBBP, IFNG
C0020615	XX	e	Hypoglycemia	5/117	124/4277	0.3910265787228555	n.a	5	1.0	ALDOB, HADHA, NR1H4, PC, PYGL
C0427055	XX	e	Weakness of facial musculature	5/117	124/4277	0.3910265787228555	n.a	5	1.0	CHCHD10, DCTN1, GLE1, SQSTM1, VCP
C4520679	XX	e	Abnormal macular morphology	5/117	126/4277	0.3954045038619914	n.a	5	1.0	APOE, CFH, CST3, PCYT1A, SPG11
C4025715	XX	e	Abnormality of the large intestine	5/117	127/4277	0.3977228692853883	n.a	5	1.0	ABCB1, BAX, IL6, TP53, XIAP
C4021745	XX	e	Abnormality of the musculature	57/117	1920/4277	0.3984284870416348	n.a	57	1.0	ACTB, AIFM1, ALS2, ANG, APOE, ARG1, ATXN2, CCNF, CHCHD10, CP, CREBBP, CTSD, DCTN1, DHFR, DLAT, ERBB4, FIG4, FUS, GDI1, GFAP, GLE1, GRIA3, GSN, GSX2, HADHA, HNRNPA1, HNRNPA2B1, HTT, IFNG, KIF5A, MAPT, MATR3, MMP2, MTHFR, NEFH, OPTN, PC, PFN1, PNP, PPARG, PRPH, PSEN1, SETX, SIGMAR1, SLC1A2, SOD1, SORD, SPG11, SQSTM1, TARDBP, TBK1, TRPM7, TTR, TUBA1A, VAPB, VCP, WNT7A
C0149630	XX	e	Bicuspid aortic valve	2/117	50/4277	0.3994717638870409	n.a	2	1.0	ACTB, NOTCH1
C1842366	XX	e	Low anterior hairline	2/117	50/4277	0.3994717638870409	n.a	2	1.0	AIFM1, CREBBP
C0026267	XX	e	Mitral valve prolapse	2/117	50/4277	0.3994717638870409	n.a	2	1.0	MMP2, VWF
C2673431	XX	e	Abnormality of the periventricular white matter	2/117	50/4277	0.3994717638870409	n.a	2	1.0	PC, SPG11
C0854723	XX	e	Retinal dystrophy	8/117	228/4277	0.4054303284960345	n.a	8	1.0	AHR, ATXN2, CFAP410, CREBBP, CTSD, GRN, NEK1, PCYT1A
C4551687	XX	e	Soft tissue sarcoma	3/117	66/4277	0.4276664690799238	n.a	3	1.0	BAX, IFNG, TP53
C4025790	XX	e	Specific learning disability	3/117	66/4277	0.4276664690799238	n.a	3	1.0	CHMP2B, IFNG, SPG11
C1862136	XX	e	Abnormality of the tarsal bones	3/117	67/4277	0.4307664645197565	n.a	3	1.0	GLE1, MMP2, WNT7A
C0022665	XX	e	Renal neoplasm	3/117	68/4277	0.4340088589537842	n.a	3	1.0	BAX, IFNG, TP53
C4025656	XX	e	Abnormality of cholesterol metabolism	3/117	68/4277	0.4340088589537842	n.a	3	1.0	LDLR, PPARG, PYGL
C0541764	XX	e	Delayed skeletal maturation	5/117	141/4277	0.4379174417842136	n.a	5	1.0	AIFM1, CREBBP, DPP6, IGF1, TP53
C2364164	XX	e	Abnormality of fluid regulation	9/117	267/4277	0.4417735526491767	n.a	9	1.0	APOA1, FGA, FIG4, GLE1, HADHA, IL6, NEK1, NOS3, NR1H4
C4025875	XX	e	Abnormality of the anterior fontanelle	3/117	72/4277	0.4482708576480844	n.a	3	1.0	CREBBP, MMP2, TALDO1
C0023418	XX	e	Leukemia	3/117	72/4277	0.4482708576480844	n.a	3	1.0	BAX, CREBBP, TP53
C4021524	XX	e	Abnormality of adipose tissue	3/117	73/4277	0.4521279998429885	n.a	3	1.0	ALB, CCL2, PPARG
C0410528	XX	e	Skeletal dysplasia	3/117	73/4277	0.4521279998429885	n.a	3	1.0	AIFM1, CFAP410, PCYT1A
C4025865	XX	e	Abnormality of facial musculature	6/117	162/4277	0.4541584725544262	n.a	6	1.0	ALS2, CHCHD10, DCTN1, GLE1, SQSTM1, VCP
C0037772	XX	e	Spastic paraplegia	3/117	74/4277	0.4560897764376493	n.a	3	1.0	ALS2, KIF5A, SPG11
C0042076	XX	e	Urinary tract neoplasm	3/117	74/4277	0.4560897764376493	n.a	3	1.0	BAX, IFNG, TP53
C4021750	XX	e	Abnormality of femur morphology	6/117	164/4277	0.4574433809362965	n.a	6	1.0	AIFM1, CFAP410, CREBBP, MMP9, PCYT1A, WNT7A
C4024996	XX	e	Aplasia/Hypoplasia of the lungs	3/117	76/4277	0.464304447198666	n.a	3	1.0	AGT, GLE1, NEK1
C0265783	XX	e	Pulmonary hypoplasia	3/117	76/4277	0.464304447198666	n.a	3	1.0	AGT, GLE1, NEK1
C4020847	XX	e	Abnormality of pelvic girdle bone morphology	10/117	303/4277	0.4676210526892355	n.a	10	1.0	AIFM1, CFAP410, CREBBP, FIG4, GLE1, MMP2, MMP9, PCYT1A, VCP, WNT7A
C4025648	XX	e	Abnormal peripheral myelination	3/117	77/4277	0.468546333421594	n.a	3	1.0	FIG4, MAT1A, SPG11
C0497156	XX	e	Lymphadenopathy	3/117	78/4277	0.4728708340651489	n.a	3	1.0	LAT, PRKCD, XIAP
C4021152	XX	e	Abnormal CNS myelination	6/117	174/4277	0.4776193256975634	n.a	6	1.0	AIFM1, GFAP, MAT1A, PC, PRKDC, TREM2
C0426970	XX	e	Spastic tetraplegia	3/117	80/4277	0.4817473112508024	n.a	3	1.0	ALS2, GSX2, TUBA1A
C4023437	XX	e	Abnormality of the urinary system physiology	17/117	539/4277	0.4821911209760913	n.a	17	1.0	AGT, ALDOB, APOA1, APOE, ARG1, CFH, FGA, GSN, HADHA, HMOX1, IL6, MTHFR, NOS3, PC, PNP, PRKCD, TP53
C1458140	XX	e	Abnormal bleeding	7/117	195/4277	0.4947962295970293	n.a	7	1.0	ALDOB, APOE, APP, CFH, CST3, FGA, VWF
C0018681	XX	e	Headache	3/117	83/4277	0.4955581335849278	n.a	3	1.0	TNF, TP53, TTR
C4023182	XX	e	Abnormality of muscle physiology	49/117	1663/4277	0.5023020188700196	n.a	49	1.0	ACTB, AIFM1, ALS2, ANG, APOE, ARG1, ATXN2, CCNF, CHCHD10, CREBBP, CTSD, DCTN1, DHFR, DLAT, ERBB4, FIG4, GDI1, GFAP, GLE1, GRIA3, GSN, GSX2, HADHA, HNRNPA1, HTT, KIF5A, MATR3, MTHFR, NEFH, OPTN, PC, PFN1, PNP, PRPH, PSEN1, SETX, SIGMAR1, SLC1A2, SOD1, SORD, SPG11, SQSTM1, TARDBP, TBK1, TRPM7, TTR, TUBA1A, VAPB, VCP
C0030193	XX	e	Pain	7/117	202/4277	0.5031049151272585	n.a	7	1.0	ALDOB, HADHA, IL6, MMP2, SQSTM1, TREM2, VCP
C0023380	XX	e	Lethargy	3/117	85/4277	0.5050429099739042	n.a	3	1.0	ALDOB, SLC1A2, TBK1
C1852464	XX	e	Abnormality of the cervical spine	7/117	206/4277	0.5090375955193376	n.a	7	1.0	ACTB, AIFM1, CREBBP, GLE1, MMP2, TALDO1, WNT7A
C0424731	XX	e	Single transverse palmar crease	3/117	86/4277	0.5098557104347219	n.a	3	1.0	CREBBP, FIG4, GLE1
C4025889	XX	e	Abnormality of renal glomerulus morphology	3/117	86/4277	0.5098557104347219	n.a	3	1.0	APOE, CFH, PRKCD
C0037286	XX	e	Neoplasm of the skin	3/117	86/4277	0.5098557104347219	n.a	3	1.0	IFNG, IL6, TP53
C4531240	XX	e	Abnormal renal corpuscle morphology	3/117	86/4277	0.5098557104347219	n.a	3	1.0	APOE, CFH, PRKCD
C0238621	XX	e	Aminoaciduria	3/117	86/4277	0.5098557104347219	n.a	3	1.0	ALDOB, ARG1, MTHFR
C0265660	XX	e	Toe syndactyly	3/117	87/4277	0.5147100466441867	n.a	3	1.0	CREBBP, FIG4, WNT7A
C4023183	XX	e	Abnormality of facial soft tissue	7/117	210/4277	0.5157555083837474	n.a	7	1.0	ALS2, CHCHD10, DCTN1, GLE1, IFNG, SQSTM1, VCP
C4293691	XX	e	Abnormality of digestive system morphology	14/117	435/4277	0.5334005413398952	n.a	14	1.0	ABCB1, BAX, CREBBP, FIG4, IL1B, IL6, JAK3, NEFH, NEK1, NOTCH1, PLA2G4A, TP53, VWF, XIAP
C4021073	XX	e	Morphological abnormality of the gastrointestinal tract	14/117	435/4277	0.5334005413398952	n.a	14	1.0	ABCB1, BAX, CREBBP, FIG4, IL1B, IL6, JAK3, NEFH, NEK1, NOTCH1, PLA2G4A, TP53, VWF, XIAP
C4021634	XX	e	Abnormality of bone marrow cell morphology	4/117	106/4277	0.5362981750723668	n.a	4	1.0	DHFR, IFNG, TALDO1, XIAP
C0241654	XX	e	Abnormality of the heart valves	4/117	111/4277	0.5468755732346954	n.a	4	1.0	ACTB, MMP2, NOTCH1, VWF
C0221277	XX	e	Abnormality of lymphocytes	4/117	112/4277	0.5492263546873065	n.a	4	1.0	JAK3, PNP, PRKCD, XIAP
C4022838	XX	e	Abnormality of the nephron	4/117	112/4277	0.5492263546873065	n.a	4	1.0	AGT, APOE, CFH, PRKCD
C1834129	XX	e	Abnormal vertebral morphology	8/117	249/4277	0.5506276993850083	n.a	8	1.0	AIFM1, CCL2, CFAP410, GLE1, MMP2, NEK1, PCYT1A, WNT7A
C0029882	XX	e	Otitis media	4/117	118/4277	0.5647540547116059	n.a	4	1.0	JAK3, PCYT1A, PNP, PRKCD
C0015967	XX	e	Fever	4/117	118/4277	0.5647540547116059	n.a	4	1.0	CFH, IFNG, PRKCD, XIAP
C4024992	XX	e	Aplasia/Hypoplasia involving bones of the thorax	4/117	119/4277	0.5675552633214455	n.a	4	1.0	ACTB, FIG4, NEK1, WNT7A
C4025812	XX	e	Dermatological manifestations of systemic disorders	4/117	121/4277	0.5733182145406458	n.a	4	1.0	ABCC2, ALDOB, DHFR, NR1H4
C0266623	XX	e	Abnormality of the neck	10/117	305/4277	0.5821854617577069	n.a	10	1.0	ACTB, AIFM1, CP, CREBBP, FIG4, GLE1, MAPT, PPARG, TALDO1, WNT7A
C4023595	XX	e	Abnormality of cell physiology	10/117	312/4277	0.5868296271115441	n.a	10	1.0	DLAT, HADHA, JAK3, LAT, NFE2L2, PNP, PRKCD, SETX, TP53, XIAP
C4476724	XX	e	Abnormal cellular phenotype	10/117	320/4277	0.5941013109777535	n.a	10	1.0	DLAT, HADHA, JAK3, LAT, NFE2L2, PNP, PRKCD, SETX, TP53, XIAP
C4023170	XX	e	Abnormality of oral mucosa	5/117	143/4277	0.5956100156891201	n.a	5	1.0	CAT, IFNG, IL6, MMP2, PRKDC
C1857704	XX	e	Abnormal myelination	10/117	324/4277	0.5984622586804063	n.a	10	1.0	AIFM1, DHFR, FIG4, GFAP, KIF5A, MAT1A, PC, PRKDC, SPG11, TREM2
C4025900	XX	e	Abnormality of female internal genitalia	6/117	183/4277	0.6391817485885705	n.a	6	1.0	BAX, CREBBP, PPARG, PRKN, TP53, WNT7A
C4293699	XX	e	Abnormal vascular morphology	13/117	433/4277	0.6436425385172617	n.a	13	1.0	ACTB, APP, CREBBP, FIG4, IFNG, IL6, LDLR, NOTCH1, PNP, PPARG, PRKCD, TALDO1, XIAP
C0266781	XX	e	Abnormality of the amniotic fluid	6/117	189/4277	0.6464747725170528	n.a	6	1.0	AGT, CREBBP, FIG4, GLE1, HADHA, TALDO1
C0018916	XX	e	Hemangioma	2/117	51/4277	0.6501339845734302	n.a	2	1.0	CREBBP, NOTCH1
C4531034	XX	e	Abnormal aortic valve cusp morphology	2/117	51/4277	0.6501339845734302	n.a	2	1.0	ACTB, NOTCH1
C0085605	XX	e	Liver failure	2/117	51/4277	0.6501339845734302	n.a	2	1.0	NR1H4, XIAP
C4022392	XX	e	Early onset of sexual maturation	2/117	52/4277	0.6530656866628101	n.a	2	1.0	CREBBP, IFNG
C0011071	XX	e	Sudden death	2/117	52/4277	0.6530656866628101	n.a	2	1.0	DPP6, HADHA
C1866134	XX	e	Wide anterior fontanel	2/117	52/4277	0.6530656866628101	n.a	2	1.0	CREBBP, TALDO1
C0009421	XX	e	Coma	2/117	53/4277	0.6561023488551454	n.a	2	1.0	ALDOB, CFH
C0013384	XX	e	Dyskinesia	2/117	53/4277	0.6561023488551454	n.a	2	1.0	CHMP2B, PARK7
C0004096	XX	e	Asthma	2/117	53/4277	0.6561023488551454	n.a	2	1.0	TALDO1, TNF
C1839326	XX	e	Abnormal form of the vertebral bodies	6/117	196/4277	0.6567915936836148	n.a	6	1.0	AIFM1, CCL2, CFAP410, NEK1, PCYT1A, WNT7A
C2973725	XX	e	Pulmonary arterial hypertension	2/117	54/4277	0.6592360645848384	n.a	2	1.0	FIG4, NOTCH1
C3805917	XX	e	Elevated pulmonary artery pressure	2/117	54/4277	0.6592360645848384	n.a	2	1.0	FIG4, NOTCH1
C0234649	XX	e	Abnormality of saccadic eye movements	2/117	54/4277	0.6592360645848384	n.a	2	1.0	ALS2, ATXN2
C0019555	XX	e	Hip dysplasia	2/117	55/4277	0.6624592770127256	n.a	2	1.0	CREBBP, GLE1
C4025250	XX	e	Abnormality of the sacrum	2/117	55/4277	0.6624592770127256	n.a	2	1.0	CCL2, WNT7A
C0000737	XX	e	Abdominal pain	2/117	55/4277	0.6624592770127256	n.a	2	1.0	ALDOB, IL6
C0079924	XX	e	Oligohydramnios	2/117	57/4277	0.6691456356820363	n.a	2	1.0	AGT, TALDO1
C4025876	XX	e	Abnormality of the fontanelles or cranial sutures	7/117	222/4277	0.6702090946933785	n.a	7	1.0	AGT, AIFM1, CREBBP, CTSD, FIG4, MMP2, TALDO1
C4021978	XX	e	Abnormality of salivation	2/117	58/4277	0.6725953020418406	n.a	2	1.0	ALS2, DLAT
C0003862	XX	e	Arthralgia	2/117	58/4277	0.6725953020418406	n.a	2	1.0	MMP2, TREM2
C0431904	XX	e	Postaxial hand polydactyly	2/117	58/4277	0.6725953020418406	n.a	2	1.0	NEK1, WNT7A
C3164445	XX	e	Abnormality of the aortic valve	2/117	58/4277	0.6725953020418406	n.a	2	1.0	ACTB, NOTCH1
C0085136	XX	e	Neoplasm of the central nervous system	2/117	60/4277	0.6796761793322943	n.a	2	1.0	IFNG, TP53
C0240310	XX	e	Hypoplasia of the maxilla	2/117	60/4277	0.6796761793322943	n.a	2	1.0	CREBBP, MMP2
C4025037	XX	e	Aplasia/hypoplasia involving bones of the lower limbs	7/117	232/4277	0.6811507097946063	n.a	7	1.0	AIFM1, CFAP410, FIG4, HTT, MMP9, NEK1, WNT7A
C0085271	XX	e	Self-injurious behavior	2/117	61/4277	0.6832956789849717	n.a	2	1.0	CREBBP, GRIA3
C1853238	XX	e	Conotruncal defect	2/117	62/4277	0.6869605313040988	n.a	2	1.0	FIG4, NOTCH1
C4721383	XX	e	Abnormality of esophagus morphology	2/117	63/4277	0.6906655444175878	n.a	2	1.0	NOTCH1, PLA2G4A
C0521694	XX	e	Retinal atrophy	2/117	63/4277	0.6906655444175878	n.a	2	1.0	APOE, CTSD
C0423250	XX	e	Opacification of the corneal stroma	2/117	63/4277	0.6906655444175878	n.a	2	1.0	LDLR, MMP2
C0022821	XX	e	Kyphosis	8/117	257/4277	0.6911692662928379	n.a	8	1.0	ACTB, AIFM1, GLE1, HTT, MAPT, MMP2, SLC1A2, SPG11
C1840535	XX	e	Abnormality of the carpal bones	2/117	64/4277	0.6944057738935892	n.a	2	1.0	MMP2, WNT7A
C0221263	XX	e	Cafe-au-lait spot	2/117	64/4277	0.6944057738935892	n.a	2	1.0	CREBBP, IFNG
C1837397	XX	e	Severe global developmental delay	2/117	65/4277	0.6981765132376878	n.a	2	1.0	FIG4, GSX2
C3806482	XX	e	Recurrent respiratory infections	8/117	269/4277	0.7016721492307063	n.a	8	1.0	CFAP410, CREBBP, JAK3, NFE2L2, PNP, PRKCD, PRKDC, XIAP
C1856660	XX	e	Abnormality of the helix	2/117	66/4277	0.7019732846833731	n.a	2	1.0	ACTB, CREBBP
C4023328	XX	e	Abnormality of corneal stroma	2/117	66/4277	0.7019732846833731	n.a	2	1.0	LDLR, MMP2
C0237653	XX	e	Immunologic hypersensitivity	2/117	67/4277	0.7057918303965537	n.a	2	1.0	TALDO1, TNF
C4025895	XX	e	Abnormality of the scrotum	2/117	69/4277	0.7134782615683344	n.a	2	1.0	CREBBP, WNT7A
C0270685	XX	e	Cerebral calcification	2/117	69/4277	0.7134782615683344	n.a	2	1.0	IFNG, TREM2
C0751495	XX	e	Focal seizures	2/117	69/4277	0.7134782615683344	n.a	2	1.0	FIG4, GABRA1
C4021734	XX	e	Abnormality of mitochondrial metabolism	2/117	70/4277	0.7173386552982004	n.a	2	1.0	DLAT, HADHA
C0085612	XX	e	Ventricular arrhythmia	2/117	70/4277	0.7173386552982004	n.a	2	1.0	DPP6, IFNG
C2711227	XX	e	Hepatic steatosis	2/117	70/4277	0.7173386552982004	n.a	2	1.0	ALDOB, PPARG
C4023612	XX	e	Abnormality of cellular immune system	9/117	305/4277	0.7175328508356247	n.a	9	1.0	APOE, BAX, CREBBP, IFNG, JAK3, PNP, PRKCD, TP53, XIAP
C0152009	XX	e	Abnormality of leukocytes	9/117	305/4277	0.7175328508356247	n.a	9	1.0	APOE, BAX, CREBBP, IFNG, JAK3, PNP, PRKCD, TP53, XIAP
C4025862	XX	e	Abnormality of the maxilla	2/117	71/4277	0.7212058241543761	n.a	2	1.0	CREBBP, MMP2
C2674738	XX	e	Abnormality of toe	10/117	341/4277	0.7308677348046001	n.a	10	1.0	ACTB, CHCHD10, CREBBP, FIG4, MMP2, NEK1, SIGMAR1, SOD1, VCP, WNT7A
C0747085	XX	e	Recurrent otitis media	3/117	88/4277	0.7342008570125542	n.a	3	1.0	JAK3, PCYT1A, PRKCD
C0019572	XX	e	Hirsutism	3/117	88/4277	0.7342008570125542	n.a	3	1.0	CREBBP, MMP2, PPARG
C1844383	XX	e	Recurrent bacterial infections	3/117	90/4277	0.7369716449037707	n.a	3	1.0	CFH, PNP, PSEN1
C0232744	XX	e	Decreased liver function	3/117	93/4277	0.741567896492549	n.a	3	1.0	NR1H4, TALDO1, XIAP
C4476621	XX	e	Abnormality of hepatobiliary system physiology	3/117	93/4277	0.741567896492549	n.a	3	1.0	NR1H4, TALDO1, XIAP
C0878659	XX	e	Disproportionate short stature	3/117	95/4277	0.7448966045228285	n.a	3	1.0	CFAP410, PCYT1A, WNT7A
C0032285	XX	e	Pneumonia	3/117	97/4277	0.74841479478583	n.a	3	1.0	CFAP410, JAK3, PNP
C0085636	XX	e	Photophobia	3/117	99/4277	0.7521042977158636	n.a	3	1.0	CFAP410, MAPT, TNF
C0017185	XX	e	Neoplasm of the gastrointestinal tract	3/117	99/4277	0.7521042977158636	n.a	3	1.0	BAX, IL1B, TP53
C4025665	XX	e	Aplasia/Hypoplasia involving the central nervous system	34/117	1187/4277	0.7538713973352861	n.a	34	1.0	ACTB, AGT, AIFM1, ALS2, APOE, ATG5, CCL2, CHCHD10, CHMP2B, CREBBP, CTSD, DHFR, DLAT, DPP6, FIG4, GLE1, GRN, GSX2, HTT, IGF1, KIF5A, MTHFR, NEK1, PRKDC, PRKN, PSEN1, SLC1A2, SPG11, SQSTM1, TBK1, TP53, TREM2, TUBA1A, VCP
C0221199	XX	e	Abnormality of the palmar creases	3/117	102/4277	0.7579218438377833	n.a	3	1.0	CREBBP, FIG4, GLE1
C1861324	XX	e	Short philtrum	3/117	102/4277	0.7579218438377833	n.a	3	1.0	CREBBP, FIG4, TALDO1
C4025810	XX	e	Abnormal palmar dermatoglyphics	3/117	106/4277	0.7661217972228207	n.a	3	1.0	CREBBP, FIG4, GLE1
C0560046	XX	e	Inability to walk	4/117	125/4277	0.7766773903863631	n.a	4	1.0	ERBB4, GLE1, GSX2, SLC1A2
C4022805	XX	e	Abnormal inflammatory response	16/117	543/4277	0.7777159255242223	n.a	16	1.0	ABCB1, APOA1, CFAP410, FGA, HNRNPA2B1, IFNG, IL6, JAK3, NFE2L2, PCYT1A, PNP, PRKCD, PRKDC, PSEN1, TP53, XIAP
C4022803	XX	e	Increased inflammatory response	16/117	543/4277	0.7777159255242223	n.a	16	1.0	ABCB1, APOA1, CFAP410, FGA, HNRNPA2B1, IFNG, IL6, JAK3, NFE2L2, PCYT1A, PNP, PRKCD, PRKDC, PSEN1, TP53, XIAP
C1836440	XX	e	Increased serum lactate	4/117	129/4277	0.7802557922623568	n.a	4	1.0	AIFM1, CHCHD10, PC, SOD1
C1836830	XX	e	Developmental regression	4/117	130/4277	0.7812469012292222	n.a	4	1.0	AIFM1, GFAP, HTT, SLC1A2
C0036857	XX	e	Intellectual disability, severe	4/117	130/4277	0.7812469012292222	n.a	4	1.0	CTSD, GRIA3, HTT, TUBA1A
C0162834	XX	e	Hyperpigmentation of the skin	4/117	132/4277	0.7833367900850472	n.a	4	1.0	CREBBP, IFNG, IL6, MMP2
CN214331	XX	e	Limb undergrowth	4/117	134/4277	0.785562602863317	n.a	4	1.0	CFAP410, NEK1, PCYT1A, WNT7A
C1844806	XX	e	Decreased body weight	19/117	659/4277	0.7950709531350848	n.a	19	1.0	ACTB, ALDOB, CREBBP, DCTN1, DPP6, FIG4, GRIA3, HADHA, IFNG, IGF1, IL6, JAK3, LAT, NFE2L2, NR1H4, PNP, PYGL, SNCA, TALDO1
C0001125	XX	e	Lactic acidosis	4/117	142/4277	0.7956469278538534	n.a	4	1.0	ALDOB, DLAT, HADHA, PC
C4551714	XX	e	Rod-cone dystrophy	4/117	142/4277	0.7956469278538534	n.a	4	1.0	AHR, ATXN2, CFAP410, CTSD
C4021832	XX	e	Abnormality of the calf	5/117	165/4277	0.8051680090436931	n.a	5	1.0	AIFM1, MMP9, NEK1, PCYT1A, WNT7A
C1969879	XX	e	Limb joint contracture	5/117	169/4277	0.8080333974920577	n.a	5	1.0	ALS2, FIG4, MMP2, SPG11, WNT7A
C4025818	XX	e	Abnormality of skeletal maturation	5/117	171/4277	0.8096223955821039	n.a	5	1.0	AIFM1, CREBBP, DPP6, IGF1, TP53
C4023616	XX	e	Abnormality of immune system physiology	24/117	845/4277	0.8142805731293041	n.a	24	1.0	ABCB1, APOA1, CFAP410, CFH, CREBBP, FGA, HNRNPA2B1, IFNG, IL6, JAK3, LAT, MMP2, NFE2L2, PCYT1A, PNP, PRKCD, PRKDC, PSEN1, SETX, TALDO1, TBK1, TNF, TP53, XIAP
C0151611	XX	e	EEG abnormality	6/117	198/4277	0.8215323417514818	n.a	6	1.0	CREBBP, GRN, MTHFR, SLC1A2, TBK1, TREM2
C3875321	XX	e	Inflammatory abnormality of the skin	6/117	211/4277	0.8287648588452532	n.a	6	1.0	APOA1, FGA, IFNG, NFE2L2, PSEN1, XIAP
C4022597	XX	e	Abnormality of central nervous system electrophysiology	6/117	212/4277	0.829459433117476	n.a	6	1.0	CREBBP, GRN, MTHFR, SLC1A2, TBK1, TREM2
C4025824	XX	e	Abnormal internal genitalia	6/117	212/4277	0.829459433117476	n.a	6	1.0	BAX, CREBBP, PPARG, PRKN, TP53, WNT7A
C4023820	XX	e	Abnormality of the female genitalia	7/117	235/4277	0.8355753189475081	n.a	7	1.0	BAX, CREBBP, PPARG, PRKN, TALDO1, TP53, WNT7A
C4023598	XX	e	Abnormal glucose homeostasis	8/117	283/4277	0.8505322548266849	n.a	8	1.0	ALDOB, CP, HADHA, IL6, NR1H4, PC, PPARG, PYGL
C4316788	XX	e	Abnormality of the intestine	9/117	308/4277	0.8552276849488685	n.a	9	1.0	ABCB1, BAX, CREBBP, IL6, JAK3, NEK1, PLA2G4A, TP53, XIAP
C4025797	XX	e	Abnormality of prenatal development or birth	10/117	358/4277	0.8661405941256404	n.a	10	1.0	AGT, CREBBP, FIG4, GLE1, HADHA, NEK1, NOS3, PPARG, TALDO1, TP53
C4025655	XX	e	Abnormality of urine homeostasis	11/117	384/4277	0.8692653483811034	n.a	11	1.0	ALDOB, APOA1, APOE, ARG1, CFH, FGA, HADHA, HMOX1, MTHFR, NOS3, TP53
C4023747	XX	e	Abnormality of the curvature of the vertebral column	17/117	615/4277	0.8944189161786733	n.a	17	1.0	ACTB, AIFM1, ALS2, CREBBP, DPP6, GLE1, HTT, KIF5A, MAPT, MMP2, PCYT1A, SETX, SLC1A2, SLC6A1, SORD, SPG11, VCP
C0024636	XX	e	Dental malocclusion	2/117	73/4277	1.0	n.a	2	1.0	CREBBP, PCYT1A
C3551148	XX	e	Aplasia/Hypoplasia of toe	2/117	72/4277	1.0	n.a	2	1.0	FIG4, WNT7A
C4021735	XX	e	Abnormality of the hip bone	7/117	255/4277	1.0	n.a	7	1.0	AIFM1, CREBBP, FIG4, GLE1, MMP2, PCYT1A, WNT7A
C4025354	XX	e	Abnormality of the posterior segment of the globe	21/117	766/4277	1.0	n.a	21	1.0	ACTB, AHR, AIFM1, APOE, ATXN2, CFAP410, CFH, CP, CREBBP, CST3, CTSD, DPP6, GRN, HADHA, IFNG, NEK1, PCYT1A, SPG11, TP53, TTR, TUBB4B
C1837257	XX	e	Lipid accumulation in hepatocytes	2/117	73/4277	1.0	n.a	2	1.0	ALDOB, PPARG
C0042963	XX	e	Vomiting	4/117	145/4277	1.0	n.a	4	1.0	ALDOB, ARG1, TNF, TP53
C4476996	XX	e	Storage in hepatocytes	2/117	73/4277	1.0	n.a	2	1.0	ALDOB, PPARG
C0008924	XX	e	Cleft upper lip	3/117	108/4277	1.0	n.a	3	1.0	ACTB, IL1B, NEK1
C1842083	XX	e	Abnormality of the ribs	5/117	182/4277	1.0	n.a	5	1.0	AIFM1, CFAP410, NEK1, PCYT1A, WNT7A
C0432333	XX	e	Abnormal dermatoglyphics	3/117	109/4277	1.0	n.a	3	1.0	CREBBP, FIG4, GLE1
C4021803	XX	p	Abnormality of the eyelid	6/117	731/4277	0.0001496396802927	n.a	6	0.0221360876346958	ACTB, CREBBP, FIG4, GLE1, LDLR, WNT7A
C0038379	XX	p	Strabismus	2/117	486/4277	0.000158705156552	n.a	2	0.0227756871836769	CREBBP, SETX
C4025887	XX	p	Abnormality of the oral cavity	17/117	1242/4277	0.0002691465034729	n.a	17	0.0341188050902559	ACTB, AIFM1, ALS2, CAT, CREBBP, FIG4, GLE1, IFNG, IL1B, IL6, MMP2, NEK1, OPTN, PCYT1A, PRKDC, TALDO1, WNT7A
C4073120	XX	p	Abnormal morphology of the ocular adnexa	9/117	845/4277	0.0003702701247719	n.a	9	0.0439749043583229	ACTB, AIFM1, CREBBP, FIG4, GLE1, LDLR, SETX, TALDO1, WNT7A
C0026633	XX	p	Abnormality of the mouth	19/117	1276/4277	0.0009477926343464	n.a	19	0.0961188103578544	ACTB, AIFM1, ALS2, CAT, CREBBP, DLAT, FIG4, GLE1, IFNG, IL1B, IL6, MAT1A, MMP2, NEK1, OPTN, PCYT1A, PRKDC, TALDO1, WNT7A
C0026827	XX	p	Muscular hypotonia	17/117	1156/4277	0.0014527330477371	n.a	17	0.1342268850415902	ACTB, AIFM1, ATXN2, CREBBP, DHFR, DLAT, FIG4, GDI1, GLE1, HADHA, HTT, KIF5A, PC, PNP, SLC1A2, SOD1, TUBA1A
C4022738	XX	p	Neurodevelopmental delay	25/117	1494/4277	0.001564004765519	n.a	25	0.13832349123881	ACTB, AIFM1, ALS2, ARG1, ATG5, CREBBP, DHFR, DLAT, FIG4, GABRA1, GDI1, GLE1, GSX2, HADHA, HTT, IGF1, MTHFR, NEK1, NFE2L2, PC, PNP, SLC1A2, SOD1, TP53, TUBA1A
C4025823	XX	p	Abnormality of the endocrine system	6/117	619/4277	0.001958688178081	n.a	6	0.1692929804827786	CP, CREBBP, IFNG, IL6, PPARG, TP53
C0235942	XX	p	Abnormality of the skull	25/117	1484/4277	0.0021259939319904	n.a	25	0.1757642374643449	ACTB, AGT, AIFM1, CREBBP, CTSD, DHFR, DLAT, DPP6, FIG4, GFAP, GLE1, GRIA3, IGF1, KIF5A, MMP2, MTHFR, NEK1, PNP, PRKCD, PRKDC, SLC1A2, TALDO1, TP53, TUBA1A, WNT7A
C0424503	XX	p	Abnormal facial shape	6/117	600/4277	0.002768783489042	n.a	6	0.2111712542959249	AGT, AIFM1, CREBBP, MMP2, TALDO1, WNT7A
C0262444	XX	p	Abnormality of the dentition	4/117	493/4277	0.0029451182497042	n.a	4	0.2168286526428549	CREBBP, FIG4, MMP2, PCYT1A
C4025252	XX	p	Abnormal nasal morphology	9/117	744/4277	0.0040732486132538	n.a	9	0.2689205027299925	ACTB, AIFM1, CREBBP, CTSD, FIG4, MMP2, PRKDC, TALDO1, WNT7A
C4280767	XX	p	Abnormal jaw morphology	6/117	576/4277	0.0054902947904596	n.a	6	0.3288124580805968	ACTB, CREBBP, FIG4, GLE1, IGF1, MMP2
C4022737	XX	p	Neurodevelopmental abnormality	36/117	1859/4277	0.0058778456790307	n.a	36	0.3336698383819869	ACTB, AIFM1, ALDOB, ALS2, ARG1, ATG5, CHMP2B, CREBBP, CTSD, DHFR, DLAT, DPP6, FIG4, GABRA1, GDI1, GFAP, GLE1, GRIA3, GSX2, HADHA, HTT, IFNG, IGF1, KIF5A, MAT1A, MTHFR, NEK1, NFE2L2, PC, PNP, SLC1A2, SLC6A1, SOD1, SPG11, TP53, TUBA1A
C4021946	XX	p	Abnormality of globe location	7/117	611/4277	0.0069242823259872	n.a	7	0.3793221541624307	ACTB, AIFM1, CREBBP, FIG4, GRIA3, MMP2, PRKDC
C4025867	XX	p	Abnormality of the forehead	7/117	606/4277	0.0069296279978988	n.a	7	0.3793221541624307	ACTB, AIFM1, CREBBP, CTSD, GLE1, MMP2, PRKDC
C2183966	XX	p	Abnormality of the lip	7/117	612/4277	0.0069321298223215	n.a	7	0.3793221541624307	ACTB, CREBBP, FIG4, IL1B, NEK1, PRKDC, TALDO1
C2315229	XX	p	Abnormality of facial skeleton	9/117	703/4277	0.0075388902821184	n.a	9	0.3955720043716789	ACTB, AIFM1, CREBBP, FIG4, GLE1, IGF1, MMP2, PNP, PRKCD
C1384666	XX	p	Hearing impairment	9/117	705/4277	0.007545627916283	n.a	9	0.3955720043716789	ACTB, AIFM1, CHCHD10, CREBBP, FIG4, IGF1, PRKDC, SQSTM1, TTR
C4025870	XX	p	Abnormality of the mandible	6/117	553/4277	0.0075568664696161	n.a	6	0.3955720043716789	ACTB, CREBBP, FIG4, GLE1, IGF1, MMP2
C0157733	XX	p	Abnormality of the hair	9/117	699/4277	0.007559371252669	n.a	9	0.3955720043716789	ACTB, AIFM1, APOE, CREBBP, FIG4, MMP2, PPARG, PRKCD, TALDO1
C4025860	XX	p	Hearing abnormality	9/117	709/4277	0.0075931518062404	n.a	9	0.3955720043716789	ACTB, AIFM1, CHCHD10, CREBBP, FIG4, IGF1, PRKDC, SQSTM1, TTR
C1845274	XX	p	Abnormal conjugate eye movement	5/117	503/4277	0.0081211199516083	n.a	5	0.4145586466572707	CREBBP, DCTN1, MAPT, SETX, SQSTM1
C4024750	XX	p	Abnormality of the palpebral fissures	4/117	453/4277	0.0086291958290407	n.a	4	0.4207759254926269	ACTB, CREBBP, FIG4, GLE1
C4022925	XX	p	Abnormal eye morphology	30/117	1595/4277	0.0086301662341374	n.a	30	0.4207759254926269	ACTB, AHR, AIFM1, APOE, ATXN2, CFAP410, CFH, CP, CREBBP, CST3, CTSD, DPP6, FIG4, GRIA3, GRN, GSN, GSR, HADHA, IFNG, LDLR, MMP2, NEK1, PCYT1A, PRKDC, SETX, SPG11, TP53, TTR, TUBB4B, VIM
C4025863	XX	p	Abnormality of the orbital region	13/117	875/4277	0.0101431849342874	n.a	13	0.4662594674428232	ACTB, AIFM1, CP, CREBBP, FIG4, GLE1, IFNG, LDLR, MAPT, PARK7, SETX, TALDO1, WNT7A
C0265736	XX	p	Abnormality of the nose	16/117	996/4277	0.010671486559037	n.a	16	0.477454863341386	ACTB, AIFM1, CREBBP, CTSD, FIG4, JAK3, MATR3, MMP2, PNP, PRKCD, PRKDC, TALDO1, TP53, VWF, WNT7A, XIAP
C4316870	XX	p	Abnormality of the eye	43/117	2072/4277	0.0111646584843262	n.a	43	0.4937115839057294	ACTB, AHR, AIFM1, ALS2, APOE, ATG5, ATXN2, CFAP410, CFH, CHCHD10, CP, CREBBP, CST3, CTSD, DCTN1, DLAT, DPP6, FIG4, GLE1, GRIA3, GRN, GSN, GSR, HADHA, HTT, IFNG, IGF1, KIF5A, LDLR, MAPT, MMP2, NEK1, OPTN, PCYT1A, PRKDC, SETX, SPG11, SQSTM1, TNF, TP53, TTR, TUBB4B, VIM
C0020534	XX	p	Hypertelorism	4/117	425/4277	0.0117680021124269	n.a	4	0.5114709946692529	ACTB, AIFM1, FIG4, MMP2
C0857379	XX	p	Abnormality of the pinna	4/117	425/4277	0.0117680021124269	n.a	4	0.5114709946692529	ACTB, CREBBP, FIG4, WNT7A
C0497202	XX	p	Abnormality of eye movement	15/117	943/4277	0.0127189777657079	n.a	15	0.5349767760294156	ALS2, ATG5, ATXN2, CFAP410, CREBBP, DCTN1, DLAT, HTT, KIF5A, MAPT, PCYT1A, SETX, SPG11, SQSTM1, TTR
C4021815	XX	p	Abnormality of the palate	7/117	586/4277	0.0132240129279303	n.a	7	0.5496275537149642	ACTB, AIFM1, CREBBP, GLE1, IL1B, NEK1, WNT7A
C4023638	XX	p	Abnormality of the external nose	5/117	475/4277	0.0157926343494568	n.a	5	0.6238563764640273	ACTB, AIFM1, CREBBP, FIG4, MMP2
C4023518	XX	p	Abnormality of skin adnexa morphology	12/117	802/4277	0.0158301710041489	n.a	12	0.6238563764640273	ACTB, AIFM1, APOE, CREBBP, FIG4, IFNG, MMP2, NOTCH1, PPARG, PRKCD, TALDO1, WNT7A
C2748932	XX	p	Slanting of the palpebral fissure	3/117	363/4277	0.0169904643069174	n.a	3	0.6526740985778492	CREBBP, FIG4, GLE1
C4025355	XX	p	Abnormality of the anterior segment of the globe	9/117	650/4277	0.0185616868161513	n.a	9	0.6787849206263762	ACTB, CFAP410, CREBBP, FIG4, GSN, GSR, LDLR, MMP2, VIM
C4551596	XX	p	Abnormal renal morphology	6/117	508/4277	0.0196074945534443	n.a	6	0.70679906906871	AGT, APOE, CFH, IFNG, NEK1, PRKCD
C4023216	XX	p	Abnormality of joint mobility	10/117	692/4277	0.0214329343087438	n.a	10	0.7077104397972647	AIFM1, ALS2, CREBBP, FIG4, GLE1, MMP2, PCYT1A, SLC1A2, SPG11, WNT7A
C1846460	XX	p	Abnormality of the outer ear	10/117	689/4277	0.0214552778579833	n.a	10	0.7077104397972647	ACTB, AIFM1, CREBBP, CTSD, FIG4, GLE1, PRKDC, SOD1, TALDO1, WNT7A
C0029131	XX	p	Abnormality of the optic nerve	4/117	405/4277	0.0232696091501031	n.a	4	0.7077104397972647	AIFM1, CFAP410, GRN, TP53
C4025901	XX	p	Abnormality of body height	13/117	829/4277	0.023476076379671	n.a	13	0.7077104397972647	ACTB, AIFM1, CFAP410, CHCHD10, CREBBP, DPP6, GRIA3, IGF1, MMP2, NFE2L2, PCYT1A, TP53, WNT7A
C0454644	XX	p	Delayed speech and language development	7/117	546/4277	0.0238416037119811	n.a	7	0.7077104397972647	CREBBP, GSX2, HTT, NEK1, NFE2L2, SLC1A2, SOD1
C4022924	XX	p	Abnormal eye physiology	30/117	1520/4277	0.0241298475177053	n.a	30	0.7077104397972647	ACTB, AHR, ALS2, APOE, ATG5, ATXN2, CFAP410, CFH, CHCHD10, CREBBP, CTSD, DCTN1, DLAT, DPP6, GLE1, GRN, HTT, IGF1, KIF5A, MAPT, NEK1, OPTN, PCYT1A, PRKDC, SETX, SPG11, SQSTM1, TNF, TTR, TUBB4B
C4025871	XX	p	Abnormality of the face	40/117	1883/4277	0.0300747314493701	n.a	40	0.745108818905242	ACTB, AGT, AIFM1, ALS2, ATXN2, CAT, CHCHD10, CP, CREBBP, CTSD, DCTN1, DLAT, FIG4, GLE1, GRIA3, IFNG, IL1B, IL6, JAK3, LDLR, MAPT, MAT1A, MATR3, MMP2, NEK1, OPTN, PARK7, PCYT1A, PNP, PPARG, PRKCD, PRKDC, SETX, SQSTM1, TALDO1, TP53, VCP, VWF, WNT7A, XIAP
C4021817	XX	p	Abnormality of head or neck	48/117	2190/4277	0.0306428574203815	n.a	48	0.7554974350639367	ACTB, AGT, AIFM1, ALS2, ATXN2, CAT, CHCHD10, CP, CREBBP, CTSD, DCTN1, DHFR, DLAT, DPP6, FIG4, GFAP, GLE1, GRIA3, IFNG, IGF1, IL1B, IL6, JAK3, KIF5A, LDLR, MAPT, MAT1A, MATR3, MMP2, MTHFR, NEK1, OPTN, PARK7, PCYT1A, PNP, PPARG, PRKCD, PRKDC, SETX, SLC1A2, SQSTM1, TALDO1, TP53, TUBA1A, VCP, VWF, WNT7A, XIAP
C2674737	XX	p	Abnormality of finger	9/117	624/4277	0.0327262370137562	n.a	9	0.7924102555323358	AIFM1, CREBBP, FIG4, IGF1, MMP2, NEK1, PCYT1A, PRKDC, WNT7A
C1858120	XX	p	Generalized hypotonia	14/117	851/4277	0.0336709260727384	n.a	14	0.8104464041431912	ACTB, AIFM1, ATXN2, CREBBP, DHFR, FIG4, GDI1, GLE1, HADHA, KIF5A, PC, PNP, SLC1A2, TUBA1A
C4021812	XX	p	Abnormality of the head	48/117	2172/4277	0.0387480683376716	n.a	48	0.8797546500785981	ACTB, AGT, AIFM1, ALS2, ATXN2, CAT, CHCHD10, CP, CREBBP, CTSD, DCTN1, DHFR, DLAT, DPP6, FIG4, GFAP, GLE1, GRIA3, IFNG, IGF1, IL1B, IL6, JAK3, KIF5A, LDLR, MAPT, MAT1A, MATR3, MMP2, MTHFR, NEK1, OPTN, PARK7, PCYT1A, PNP, PPARG, PRKCD, PRKDC, SETX, SLC1A2, SQSTM1, TALDO1, TP53, TUBA1A, VCP, VWF, WNT7A, XIAP
C4023382	XX	p	Functional abnormality of the inner ear	5/117	420/4277	0.0396450214520116	n.a	5	0.8948656448651631	ACTB, AIFM1, CHCHD10, IGF1, PRKDC
C4021809	XX	p	Abnormality of the inner ear	5/117	425/4277	0.0399389833602753	n.a	5	0.8948656448651631	ACTB, AIFM1, CHCHD10, IGF1, PRKDC
C4025884	XX	p	Abnormality of upper lip	7/117	520/4277	0.0430287999489602	n.a	7	0.9292377364927824	ACTB, CREBBP, FIG4, IL1B, NEK1, PRKDC, TALDO1
C0240635	XX	p	High palate	4/117	364/4277	0.0430693907656568	n.a	4	0.9292377364927824	AIFM1, CREBBP, GLE1, WNT7A
C4024586	XX	p	Abnormal axial skeleton morphology	37/117	1752/4277	0.0448707350343466	n.a	37	0.9292377364927824	ACTB, AGT, AIFM1, ALS2, CCL2, CFAP410, CREBBP, CTSD, DHFR, DLAT, DPP6, FIG4, GFAP, GLE1, GRIA3, HTT, IGF1, KIF5A, MAPT, MMP2, MTHFR, NEK1, PCYT1A, PNP, PRKCD, PRKDC, SETX, SLC1A2, SLC6A1, SORD, SPG11, SQSTM1, TALDO1, TP53, TUBA1A, VCP, WNT7A
C0029124	XX	p	Optic atrophy	2/117	254/4277	0.0462858126274963	n.a	2	0.9292377364927824	CFAP410, GRN
C0744356	XX	p	Abnormality of the genital system	15/117	863/4277	0.046643351034848	n.a	15	0.9292377364927824	ACTB, BAX, CFAP410, CREBBP, FIG4, GLE1, NEK1, PPARG, PRKDC, PRKN, TALDO1, TP53, TTR, VWF, WNT7A
C4023164	XX	p	Abnormality of skeletal physiology	15/117	867/4277	0.046701047504167	n.a	15	0.9292377364927824	AIFM1, ALS2, CREBBP, DPP6, FIG4, GLE1, IGF1, MMP2, PCYT1A, SLC1A2, SPG11, SQSTM1, TP53, TREM2, WNT7A
C4021811	XX	p	Abnormality of the midface	3/117	320/4277	0.0469476379040898	n.a	3	0.9292377364927824	ACTB, AIFM1, CREBBP
C4025692	XX	p	Abnormality of calvarial morphology	6/117	461/4277	0.0480943418067963	n.a	6	0.9292377364927824	ACTB, CREBBP, FIG4, GRIA3, MMP2, NEK1
C0262361	XX	p	Growth abnormality	32/117	1549/4277	0.0506378670555348	n.a	32	0.9292377364927824	ACTB, AIFM1, ALDOB, ARG1, CFAP410, CHCHD10, CREBBP, DCTN1, DPP6, FIG4, GRIA3, HADHA, HMOX1, IFNG, IGF1, IL6, JAK3, LAT, MMP2, NFE2L2, NOS3, NR1H4, PCYT1A, PNP, PPARG, PRKDC, PYGL, SNCA, SPG11, TALDO1, TP53, WNT7A
C0349588	XX	p	Short stature	13/117	769/4277	0.0506653109440125	n.a	13	0.9292377364927824	ACTB, AIFM1, CFAP410, CHCHD10, CREBBP, DPP6, GRIA3, IGF1, MMP2, NFE2L2, PCYT1A, TP53, WNT7A
C4023163	XX	p	Abnormal appendicular skeleton morphology	20/117	1074/4277	0.0509378402132236	n.a	20	0.9292377364927824	ACTB, AIFM1, CFAP410, CHCHD10, CREBBP, FIG4, GLE1, HTT, IGF1, MMP2, MMP9, NEK1, NOTCH1, PCYT1A, PRKDC, SIGMAR1, SOD1, SQSTM1, VCP, WNT7A
C0018784	XX	p	Sensorineural hearing loss	5/117	401/4277	0.0534705353461546	n.a	5	0.9292377364927824	ACTB, AIFM1, CHCHD10, IGF1, PRKDC
C4024591	XX	p	Aplasia/Hypoplasia involving bones of the skull	5/117	400/4277	0.0535051507228471	n.a	5	0.9292377364927824	CREBBP, FIG4, GLE1, IGF1, MMP2
C4025874	XX	p	Abnormality of skull size	18/117	981/4277	0.0572354486755567	n.a	18	0.9588828692208912	ACTB, AGT, CREBBP, CTSD, DHFR, DLAT, DPP6, FIG4, GFAP, GLE1, GRIA3, IGF1, KIF5A, MTHFR, PRKDC, SLC1A2, TP53, TUBA1A
C0018564	XX	p	Abnormality of the hand	15/117	843/4277	0.0593762287438802	n.a	15	0.9841154813850982	AIFM1, ALS2, CREBBP, DCTN1, FIG4, GLE1, HTT, IGF1, MMP2, NEK1, PCYT1A, PRKDC, SIGMAR1, SPG11, WNT7A
C3550704	XX	p	Abnormality of digit	15/117	850/4277	0.0593885098548198	n.a	15	0.9841154813850982	ACTB, AIFM1, CHCHD10, CREBBP, FIG4, IGF1, MMP2, NEK1, NOTCH1, PCYT1A, PRKDC, SIGMAR1, SOD1, VCP, WNT7A
C4082761	XX	p	Abnormality of limb bone morphology	19/117	1009/4277	0.0604700663289494	n.a	19	0.993380830449222	ACTB, AIFM1, CFAP410, CHCHD10, CREBBP, FIG4, GLE1, HTT, IGF1, MMP2, MMP9, NEK1, NOTCH1, PCYT1A, PRKDC, SIGMAR1, SOD1, VCP, WNT7A
C4022456	XX	p	Abnormality of limb bone	19/117	1009/4277	0.0604700663289494	n.a	19	0.993380830449222	ACTB, AIFM1, CFAP410, CHCHD10, CREBBP, FIG4, GLE1, HTT, IGF1, MMP2, MMP9, NEK1, NOTCH1, PCYT1A, PRKDC, SIGMAR1, SOD1, VCP, WNT7A
C4021790	XX	p	Abnormality of the skeletal system	50/117	2195/4277	0.0612369088800348	n.a	50	1.0	ACTB, AGT, AIFM1, ALB, ALS2, CCL2, CFAP410, CHCHD10, CREBBP, CTSD, DHFR, DLAT, DPP6, FIG4, GFAP, GLE1, GRIA3, HNRNPA2B1, HTT, IFNG, IGF1, KIF5A, LDLR, MAPT, MMP2, MMP9, MTHFR, NEK1, NOTCH1, PCYT1A, PNP, PRKCD, PRKDC, SETX, SIGMAR1, SLC1A2, SLC6A1, SOD1, SORD, SPG11, SQSTM1, TAF15, TALDO1, TP53, TREM2, TTR, TUBA1A, VCP, VWF, WNT7A
C4023819	XX	p	Abnormality of the male genitalia	8/117	538/4277	0.0647971627693974	n.a	8	1.0	ACTB, CREBBP, FIG4, GLE1, NEK1, PRKDC, TP53, WNT7A
C0019270	XX	p	Hernia	2/117	237/4277	0.0651124889332622	n.a	2	1.0	CREBBP, NOTCH1
C1301937	XX	p	Talipes	2/117	243/4277	0.0655410696468825	n.a	2	1.0	GLE1, WNT7A
C4025161	XX	p	Positional foot deformity	2/117	244/4277	0.06572717981563	n.a	2	1.0	GLE1, WNT7A
C0423110	XX	p	Downslanted palpebral fissures	2/117	248/4277	0.0667957523939309	n.a	2	1.0	CREBBP, GLE1
C3714756	XX	p	Intellectual disability	22/117	1121/4277	0.0698571049829509	n.a	22	1.0	ACTB, AIFM1, ALDOB, ARG1, CREBBP, CTSD, DLAT, DPP6, GABRA1, GDI1, GRIA3, HTT, IFNG, IGF1, MAT1A, NFE2L2, PC, PNP, SLC1A2, SLC6A1, SPG11, TUBA1A
C0025990	XX	p	Micrognathia	5/117	392/4277	0.0719753920671594	n.a	5	1.0	CREBBP, FIG4, GLE1, IGF1, MMP2
C4024589	XX	p	Aplasia/Hypoplasia of the mandible	5/117	393/4277	0.0721144000169732	n.a	5	1.0	CREBBP, FIG4, GLE1, IGF1, MMP2
C4021096	XX	p	Abnormal reproductive system morphology	12/117	694/4277	0.0760158973379215	n.a	12	1.0	ACTB, BAX, CREBBP, FIG4, GLE1, NEK1, PPARG, PRKDC, PRKN, TALDO1, TP53, WNT7A
C4025761	XX	p	Abnormality of the integument	32/117	1503/4277	0.0774786920074252	n.a	32	1.0	ABCC2, ACTB, AIFM1, ALDOB, ALS2, APOA1, APOE, CCL2, CFH, CREBBP, DHFR, FGA, FIG4, GLE1, GSN, IFNG, IL6, KIF5A, LDLR, MMP2, NFE2L2, NOTCH1, NR1H4, PPARG, PRKCD, PSEN1, SETX, TALDO1, TP53, VWF, WNT7A, XIAP
C3808249	XX	p	Abnormality of the optic disc	4/117	343/4277	0.081067827142731	n.a	4	1.0	AIFM1, CFAP410, GRN, TP53
C4021805	XX	p	Abnormality of the nasal bridge	8/117	520/4277	0.084089474319981	n.a	8	1.0	ACTB, AIFM1, CREBBP, CTSD, MMP2, PRKDC, TALDO1, WNT7A
C4025897	XX	p	Abnormality of male external genitalia	8/117	520/4277	0.084089474319981	n.a	8	1.0	ACTB, CREBBP, FIG4, GLE1, NEK1, PRKDC, TP53, WNT7A
C1836542	XX	p	Depressed nasal bridge	3/117	283/4277	0.0869071282377079	n.a	3	1.0	AIFM1, CREBBP, TALDO1
C1387925	XX	p	Abnormality of limbs	30/117	1409/4277	0.0908224041122827	n.a	30	1.0	ACTB, AIFM1, ALS2, CCNF, CFAP410, CHCHD10, CREBBP, DCTN1, FIG4, GLE1, HNRNPA1, HTT, IGF1, KIF5A, MATR3, MMP2, MMP9, NEFH, NEK1, NOTCH1, PCYT1A, PRKDC, SETX, SIGMAR1, SOD1, SORD, SPG11, SQSTM1, VCP, WNT7A
C4083076	XX	p	Increased head circumference	2/117	231/4277	0.0926293956372779	n.a	2	1.0	GFAP, GRIA3
C4021804	XX	p	Abnormality of the nasal alae	4/117	319/4277	0.1067840342268054	n.a	4	1.0	ACTB, AIFM1, CREBBP, FIG4
C4021813	XX	p	Oral cleft	4/117	323/4277	0.1074802337091027	n.a	4	1.0	ACTB, CREBBP, IL1B, NEK1
C0232466	XX	p	Feeding difficulties	8/117	496/4277	0.1085375983705618	n.a	8	1.0	CREBBP, DHFR, GLE1, GSX2, HTT, KIF5A, SLC1A2, TALDO1
C4759656	XX	p	Abnormality of the testis	6/117	415/4277	0.1111202368094077	n.a	6	1.0	ACTB, CREBBP, FIG4, GLE1, TP53, WNT7A
C4023165	XX	p	Abnormality of skeletal morphology	49/117	2107/4277	0.1114452612810544	n.a	49	1.0	ACTB, AGT, AIFM1, ALB, ALS2, CCL2, CFAP410, CHCHD10, CREBBP, CTSD, DHFR, DLAT, DPP6, FIG4, GFAP, GLE1, GRIA3, HTT, IFNG, IGF1, KIF5A, LDLR, MAPT, MMP2, MMP9, MTHFR, NEK1, NOTCH1, PCYT1A, PNP, PRKCD, PRKDC, SETX, SIGMAR1, SLC1A2, SLC6A1, SOD1, SORD, SPG11, SQSTM1, TAF15, TALDO1, TP53, TREM2, TTR, TUBA1A, VCP, VWF, WNT7A
C4025825	XX	p	Abnormal external genitalia	9/117	548/4277	0.1208980205172151	n.a	9	1.0	ACTB, CREBBP, FIG4, GLE1, NEK1, PRKDC, TALDO1, TP53, WNT7A
C1857045	XX	p	Abnormality of the philtrum	5/117	352/4277	0.1258076362290854	n.a	5	1.0	ACTB, CREBBP, FIG4, PRKDC, TALDO1
C1442978	XX	p	Hernia of the abdominal wall	2/117	206/4277	0.1265466367516615	n.a	2	1.0	CREBBP, NOTCH1
C0238577	XX	p	Abdominal wall defect	2/117	208/4277	0.1265759149793476	n.a	2	1.0	CREBBP, NOTCH1
C1852504	XX	p	Misalignment of teeth	2/117	210/4277	0.1268190608961022	n.a	2	1.0	CREBBP, PCYT1A
C0010417	XX	p	Cryptorchidism	5/117	362/4277	0.1268223827210803	n.a	5	1.0	ACTB, CREBBP, FIG4, GLE1, WNT7A
C0241165	XX	p	Thickened skin	2/117	217/4277	0.1293190791350956	n.a	2	1.0	MMP2, PPARG
C0009081	XX	p	Clubfoot	2/117	219/4277	0.130494233861904	n.a	2	1.0	GLE1, WNT7A
C0240083	XX	p	Abnormal joint morphology	10/117	584/4277	0.1314236600600649	n.a	10	1.0	CREBBP, FIG4, HTT, KIF5A, MMP2, PRKCD, SOD1, SPG11, VWF, WNT7A
C4025596	XX	p	Abnormality of connective tissue	14/117	748/4277	0.1374923144510493	n.a	14	1.0	AIFM1, ALB, ALS2, CCL2, CREBBP, FIG4, GLE1, IFNG, MMP2, NOTCH1, PPARG, SLC1A2, SPG11, WNT7A
C0008925	XX	p	Cleft palate	4/117	306/4277	0.1429397156231587	n.a	4	1.0	ACTB, CREBBP, IL1B, NEK1
C4021983	XX	p	Abnormality of the hard palate	4/117	308/4277	0.1435216905322555	n.a	4	1.0	ACTB, CREBBP, IL1B, NEK1
C4024902	XX	p	Aplasia/Hypoplasia of the cerebrum	20/117	976/4277	0.1470626301015749	n.a	20	1.0	ACTB, AGT, AIFM1, CCL2, CREBBP, CTSD, DHFR, DLAT, DPP6, FIG4, GLE1, IGF1, KIF5A, MTHFR, PRKDC, SLC1A2, SPG11, TP53, TREM2, TUBA1A
C4551485	XX	p	Clinodactyly	3/117	249/4277	0.1593221022479794	n.a	3	1.0	CREBBP, IGF1, WNT7A
C4021387	XX	p	Abnormality of upper limb joint	3/117	258/4277	0.1629299566542451	n.a	3	1.0	CREBBP, MMP2, WNT7A
C4025852	XX	p	Abnormality of the nasal tip	2/117	196/4277	0.1754868245944808	n.a	2	1.0	AIFM1, MMP2
C0232411	XX	p	Sparse hair	2/117	199/4277	0.1767457598655956	n.a	2	1.0	CREBBP, FIG4
C0221354	XX	p	Frontal bossing	2/117	204/4277	0.1800853728737336	n.a	2	1.0	CREBBP, MMP2
C4023458	XX	p	Abnormal shape of the frontal region	2/117	204/4277	0.1800853728737336	n.a	2	1.0	CREBBP, MMP2
C0424688	XX	p	Decreased head circumference	16/117	795/4277	0.1856596745530744	n.a	16	1.0	ACTB, AGT, CREBBP, CTSD, DHFR, DLAT, DPP6, FIG4, GLE1, IGF1, KIF5A, MTHFR, PRKDC, SLC1A2, TP53, TUBA1A
C4551563	XX	p	Microcephaly	16/117	792/4277	0.1858947352782779	n.a	16	1.0	ACTB, AGT, CREBBP, CTSD, DHFR, DLAT, DPP6, FIG4, GLE1, IGF1, KIF5A, MTHFR, PRKDC, SLC1A2, TP53, TUBA1A
C0948163	XX	p	Abnormality of the cerebral white matter	10/117	541/4277	0.2047353264876058	n.a	10	1.0	ACTB, AIFM1, CREBBP, FIG4, PC, PRKDC, SLC1A2, SPG11, TREM2, TUBA1A
C4023397	XX	p	Abnormal hair quantity	7/117	421/4277	0.2057625236873604	n.a	7	1.0	APOE, CREBBP, FIG4, MMP2, PPARG, PRKCD, TALDO1
C4021664	XX	p	Abnormality of the abdominal wall	3/117	229/4277	0.2132692706785876	n.a	3	1.0	CREBBP, HNRNPA1, NOTCH1
C4476872	XX	p	Abnormality of cardiovascular system electrophysiology	3/117	233/4277	0.2136705568278071	n.a	3	1.0	CREBBP, DPP6, IFNG
C4025752	XX	p	Abnormal cardiac ventricle morphology	5/117	324/4277	0.2141463530949987	n.a	5	1.0	CREBBP, FIG4, NEK1, NOTCH1, TALDO1
C4023528	XX	p	Abnormality of skin morphology	22/117	1020/4277	0.226196181675918	n.a	22	1.0	ABCC2, ALDOB, ALS2, CCL2, CFH, CREBBP, DHFR, FIG4, GLE1, GSN, IFNG, IL6, KIF5A, LDLR, MMP2, NOTCH1, NR1H4, PPARG, PRKCD, SETX, TALDO1, VWF
C0018816	XX	p	Abnormality of the cardiac septa	6/117	359/4277	0.2373197727394796	n.a	6	1.0	CREBBP, FIG4, NEK1, NFE2L2, NOTCH1, TALDO1
C4021820	XX	p	Abnormality of reproductive system physiology	6/117	359/4277	0.2373197727394796	n.a	6	1.0	CFAP410, PPARG, TP53, TTR, VWF, WNT7A
C0549651	XX	p	Abnormality of the lens	6/117	364/4277	0.2379154359938593	n.a	6	1.0	ACTB, CFAP410, CREBBP, FIG4, GSR, VIM
C4025676	XX	p	Abnormality of the knee	2/117	174/4277	0.2394177203536664	n.a	2	1.0	CREBBP, WNT7A
C4025864	XX	p	Abnormality of the chin	2/117	185/4277	0.2430728867314302	n.a	2	1.0	ACTB, PRKDC
C1840077	XX	p	Anteverted nares	4/117	267/4277	0.2465249037858201	n.a	4	1.0	ACTB, AIFM1, CREBBP, FIG4
C4021637	XX	p	Abnormality of the nares	4/117	275/4277	0.2481742045224666	n.a	4	1.0	ACTB, AIFM1, CREBBP, FIG4
C4024592	XX	p	Aplasia/hypoplasia involving the skeleton	14/117	697/4277	0.252221327354324	n.a	14	1.0	ACTB, AIFM1, CCL2, CFAP410, CREBBP, FIG4, GLE1, HTT, IGF1, MMP2, MMP9, NEK1, PCYT1A, WNT7A
C0028738	XX	p	Nystagmus	10/117	525/4277	0.253344614927135	n.a	10	1.0	ATG5, ATXN2, CFAP410, DLAT, KIF5A, PCYT1A, SETX, SPG11, SQSTM1, TTR
C4022855	XX	p	Abnormal involuntary eye movements	10/117	527/4277	0.2534573808365226	n.a	10	1.0	ATG5, ATXN2, CFAP410, DLAT, KIF5A, PCYT1A, SETX, SPG11, SQSTM1, TTR
C4020900	XX	p	Abnormality of the upper limb	20/117	925/4277	0.255625180298244	n.a	20	1.0	AIFM1, ALS2, CREBBP, DCTN1, FIG4, GLE1, HTT, IGF1, MATR3, MMP2, NEFH, NEK1, PCYT1A, PRKDC, SIGMAR1, SORD, SPG11, SQSTM1, VCP, WNT7A
C0023015	XX	p	Language impairment	11/117	556/4277	0.2675690005077676	n.a	11	1.0	CREBBP, GSX2, HTT, MAPT, NEK1, NFE2L2, PSEN1, SLC1A2, SOD1, SQSTM1, TBK1
C4023124	XX	p	Short digit	5/117	302/4277	0.275638336024066	n.a	5	1.0	AIFM1, FIG4, NEK1, NOTCH1, PCYT1A
C4011556	XX	p	Abnormal eyebrow morphology	5/117	310/4277	0.2761982639482633	n.a	5	1.0	ACTB, AIFM1, CREBBP, FIG4, TALDO1
C4025035	XX	p	Aplasia/hypoplasia involving bones of the upper limbs	5/117	312/4277	0.2768080182633963	n.a	5	1.0	AIFM1, FIG4, HTT, PCYT1A, WNT7A
C4021614	XX	p	Abnormality of phalanx of finger	5/117	317/4277	0.279130898106518	n.a	5	1.0	CREBBP, FIG4, MMP2, NEK1, WNT7A
C0855329	XX	p	Arrhythmia	3/117	218/4277	0.2844279763494729	n.a	3	1.0	CREBBP, DPP6, IFNG
C4023408	XX	p	Abnormality of mouth size	3/117	220/4277	0.2852056236954091	n.a	3	1.0	ACTB, CREBBP, TALDO1
C4023406	XX	p	Abnormality of upper lip vermillion	3/117	223/4277	0.2868468377373002	n.a	3	1.0	ACTB, CREBBP, PRKDC
C4024685	XX	p	Puberty and gonadal disorders	3/117	226/4277	0.2890439912044404	n.a	3	1.0	CREBBP, IFNG, TP53
C4021157	XX	p	Generalized abnormality of skin	9/117	476/4277	0.2955173621922008	n.a	9	1.0	ABCC2, ALDOB, CFH, DHFR, NR1H4, PPARG, SETX, TALDO1, VWF
C0852413	XX	p	Abnormal muscle tone	33/117	1402/4277	0.318481827535529	n.a	33	1.0	ACTB, AIFM1, ALS2, ANG, APOE, ARG1, ATXN2, CREBBP, CTSD, DCTN1, DHFR, DLAT, FIG4, GDI1, GFAP, GLE1, GSX2, HADHA, HTT, KIF5A, NEFH, PC, PFN1, PNP, PRPH, PSEN1, SIGMAR1, SLC1A2, SOD1, SPG11, TARDBP, TTR, TUBA1A
C0853087	XX	p	Abnormality of the nail	4/117	253/4277	0.320499235403636	n.a	4	1.0	FIG4, IFNG, NOTCH1, WNT7A
C0234632	XX	p	Reduced visual acuity	4/117	257/4277	0.3215108383903913	n.a	4	1.0	AHR, CREBBP, DPP6, TUBB4B
C1096086	XX	p	Abnormality of the lower limb	23/117	1024/4277	0.3226372885305655	n.a	23	1.0	ACTB, AIFM1, ALS2, CFAP410, CHCHD10, CREBBP, FIG4, GLE1, HTT, KIF5A, MMP2, MMP9, NEFH, NEK1, PCYT1A, SETX, SIGMAR1, SOD1, SORD, SPG11, SQSTM1, VCP, WNT7A
C4025691	XX	p	Abnormality of the calvaria	11/117	545/4277	0.325446489645623	n.a	11	1.0	ACTB, AGT, AIFM1, CREBBP, CTSD, FIG4, GRIA3, MMP2, NEK1, TALDO1, WNT7A
C1854114	XX	p	Short nose	2/117	164/4277	0.3264203621932852	n.a	2	1.0	ACTB, CREBBP
C2673410	XX	p	Midface retrusion	2/117	173/4277	0.3335575729272463	n.a	2	1.0	ACTB, AIFM1
C4551464	XX	p	Aplasia/hypoplasia of the extremities	8/117	419/4277	0.3438179926813617	n.a	8	1.0	AIFM1, CFAP410, FIG4, HTT, MMP9, NEK1, PCYT1A, WNT7A
C1855670	XX	p	Abnormality of the cornea	5/117	289/4277	0.3514016622959198	n.a	5	1.0	CREBBP, FIG4, GSN, LDLR, MMP2
C4021612	XX	p	Aplasia/hypoplasia involving bones of the hand	5/117	293/4277	0.3520414126147834	n.a	5	1.0	AIFM1, FIG4, HTT, PCYT1A, WNT7A
C1842581	XX	p	Abnormality of the corpus callosum	9/117	463/4277	0.3634427450425661	n.a	9	1.0	ACTB, AIFM1, CREBBP, FIG4, PRKDC, SLC1A2, SPG11, TREM2, TUBA1A
C4049796	XX	p	Abnormality of cardiovascular system morphology	21/117	938/4277	0.3642570627612544	n.a	21	1.0	ACTB, APP, CREBBP, FIG4, GSN, HADHA, IFNG, IL6, LDLR, MMP2, NEK1, NFE2L2, NOTCH1, PNP, PPARG, PRKCD, PSEN1, TALDO1, TTR, VWF, XIAP
C0524528	XX	p	Pervasive developmental disorder	3/117	200/4277	0.3740562411475493	n.a	3	1.0	CREBBP, GRIA3, IFNG
C4023402	XX	p	Regional abnormality of skin	3/117	204/4277	0.3755575330135315	n.a	3	1.0	CREBBP, FIG4, GLE1
C0085584	XX	p	Encephalopathy	3/117	206/4277	0.3767144619157729	n.a	3	1.0	GABRA1, SLC1A2, XIAP
C4024585	XX	p	Aplasia/hypoplasia affecting bones of the axial skeleton	10/117	492/4277	0.3781728695212921	n.a	10	1.0	ACTB, AIFM1, CCL2, CREBBP, FIG4, GLE1, IGF1, MMP2, NEK1, WNT7A
C0243050	XX	p	Abnormality of the cardiovascular system	37/117	1536/4277	0.3792610258715774	n.a	37	1.0	ACTB, AGT, ALB, ALDOB, APOA1, APOE, APP, CFAP410, CFH, CREBBP, CST3, DPP6, FGA, FIG4, GSN, HADHA, IFNG, IL6, JAK3, LAT, LDLR, MMP2, MTHFR, NEK1, NFE2L2, NOS3, NOTCH1, PNP, PPARG, PRKCD, PSEN1, SETX, SNCA, TALDO1, TTR, VWF, XIAP
C2674608	XX	p	Feeding difficulties in infancy	3/117	210/4277	0.3798119128973665	n.a	3	1.0	CREBBP, GSX2, TALDO1
C4025630	XX	p	Abnormal bone structure	7/117	375/4277	0.4045807909842536	n.a	7	1.0	ALB, FIG4, IGF1, MMP2, SQSTM1, TREM2, WNT7A
C0016506	XX	p	Abnormality of the foot	19/117	831/4277	0.4094450666795701	n.a	19	1.0	ACTB, AIFM1, ALS2, CHCHD10, CREBBP, FIG4, GLE1, HTT, KIF5A, MMP2, NEFH, NEK1, SETX, SIGMAR1, SOD1, SORD, SPG11, VCP, WNT7A
C2674432	XX	p	Reduced bone mineral density	4/117	242/4277	0.4140288721204355	n.a	4	1.0	ALB, IGF1, MMP2, TREM2
C4021386	XX	p	Abnormality of the elbow	2/117	143/4277	0.4382958875085754	n.a	2	1.0	CREBBP, WNT7A
C1853743	XX	p	Muscular hypotonia of the trunk	2/117	143/4277	0.4382958875085754	n.a	2	1.0	HTT, SOD1
C0423109	XX	p	Upslanted palpebral fissure	2/117	142/4277	0.4383276755980367	n.a	2	1.0	CREBBP, FIG4
C4551567	XX	p	Abnormality of granulocytes	2/117	148/4277	0.4395264038115448	n.a	2	1.0	PNP, XIAP
C1861866	XX	p	Aplasia/Hypoplasia of the corpus callosum	9/117	435/4277	0.4396372052686293	n.a	9	1.0	ACTB, AIFM1, CREBBP, FIG4, PRKDC, SLC1A2, SPG11, TREM2, TUBA1A
C2675111	XX	p	Abnormality of the eyelashes	2/117	149/4277	0.4400418218639099	n.a	2	1.0	CREBBP, FIG4
C0333068	XX	p	Flexion contracture	9/117	441/4277	0.4401050903698935	n.a	9	1.0	AIFM1, ALS2, CREBBP, FIG4, GLE1, MMP2, SLC1A2, SPG11, WNT7A
C4021904	XX	p	Abnormal size of the palpebral fissures	2/117	150/4277	0.440644063977022	n.a	2	1.0	ACTB, CREBBP
C1704431	XX	p	Abnormality of ion homeostasis	2/117	152/4277	0.4421038176041723	n.a	2	1.0	ALDOB, CP
C4025758	XX	p	Abnormal myocardium morphology	5/117	272/4277	0.4436541194597155	n.a	5	1.0	FIG4, GSN, HADHA, PSEN1, TTR
C4021657	XX	p	Abnormality of bone mineral density	5/117	280/4277	0.4456724378828717	n.a	5	1.0	ALB, IGF1, MMP2, SQSTM1, TREM2
C1854301	XX	p	Motor delay	10/117	472/4277	0.4557706928717531	n.a	10	1.0	ALS2, ATG5, CREBBP, DLAT, FIG4, GLE1, IGF1, NEK1, PNP, TUBA1A
C0037268	XX	p	Abnormality of the skin	28/117	1167/4277	0.4618252748848458	n.a	28	1.0	ABCC2, ALDOB, ALS2, APOA1, CCL2, CFH, CREBBP, DHFR, FGA, FIG4, GLE1, GSN, IFNG, IL6, KIF5A, LDLR, MMP2, NFE2L2, NOTCH1, NR1H4, PPARG, PRKCD, PSEN1, SETX, TALDO1, TP53, VWF, XIAP
C0344482	XX	p	Hypoplasia of the corpus callosum	6/117	306/4277	0.4701331050416175	n.a	6	1.0	AIFM1, PRKDC, SLC1A2, SPG11, TREM2, TUBA1A
C3278923	XX	p	Ventriculomegaly	6/117	316/4277	0.471490251920675	n.a	6	1.0	ACTB, ATXN2, FIG4, GRN, NEK1, TUBA1A
C4025843	XX	p	Abnormality of refraction	6/117	320/4277	0.4732174287225625	n.a	6	1.0	CREBBP, GLE1, HTT, NEK1, OPTN, TUBB4B
C0740651	XX	p	Abdominal symptom	19/117	829/4277	0.476284357387037	n.a	19	1.0	ALDOB, ARG1, ATXN2, CFH, CREBBP, DHFR, GLE1, GSX2, HTT, IFNG, IL6, JAK3, KIF5A, MAPT, SLC1A2, TALDO1, TNF, TP53, TTR
C4025708	XX	p	Cerebellar malformation	3/117	182/4277	0.487318181480578	n.a	3	1.0	NEK1, PRKDC, TUBA1A
C4021678	XX	p	Abnormality of the 5th finger	3/117	189/4277	0.4899802577105974	n.a	3	1.0	CREBBP, NEK1, WNT7A
C1865014	XX	p	Long philtrum	3/117	194/4277	0.4938397076881831	n.a	3	1.0	ACTB, CREBBP, PRKDC
C4023161	XX	p	Abnormal bone ossification	7/117	355/4277	0.4946135731386976	n.a	7	1.0	ALB, FIG4, IGF1, MMP2, SQSTM1, TREM2, WNT7A
C4073181	XX	p	Aplasia/hypoplasia involving bones of the extremities	8/117	381/4277	0.5121194538636265	n.a	8	1.0	AIFM1, CFAP410, FIG4, HTT, MMP9, NEK1, PCYT1A, WNT7A
C4025842	XX	p	Abnormality of the uvea	4/117	218/4277	0.5244564242179225	n.a	4	1.0	ACTB, APOE, CREBBP, DPP6
C4021948	XX	p	Abnormality of the palm	4/117	218/4277	0.5244564242179225	n.a	4	1.0	AIFM1, CREBBP, FIG4, GLE1
C1260926	XX	p	Abnormality of skin pigmentation	4/117	225/4277	0.5262155413063797	n.a	4	1.0	CREBBP, IFNG, IL6, MMP2
C4024338	XX	p	Deviation of the hand or of fingers of the hand	4/117	229/4277	0.5283980830373007	n.a	4	1.0	CREBBP, IGF1, PRKDC, WNT7A
C4021810	XX	p	Abnormal location of ears	10/117	458/4277	0.5444000831922974	n.a	10	1.0	ACTB, AIFM1, CREBBP, CTSD, FIG4, GLE1, PRKDC, SOD1, TALDO1, WNT7A
C1386048	XX	p	Intrauterine growth retardation	5/117	253/4277	0.5540278753090834	n.a	5	1.0	FIG4, IGF1, NOS3, PRKDC, TALDO1
C0878544	XX	p	Cardiomyopathy	5/117	266/4277	0.557376211263337	n.a	5	1.0	FIG4, GSN, HADHA, PSEN1, TTR
C4021797	XX	p	Abnormality of the thorax	11/117	489/4277	0.5578023163058897	n.a	11	1.0	ACTB, AIFM1, CFAP410, CREBBP, FIG4, GLE1, NEK1, PCYT1A, SQSTM1, VCP, WNT7A
C0241726	XX	p	Delayed ability to walk	2/117	127/4277	0.584386499766424	n.a	2	1.0	ATG5, CREBBP
C2750635	XX	p	Contractures of the joints of the upper limbs	2/117	125/4277	0.5844286373230412	n.a	2	1.0	MMP2, WNT7A
C0029456	XX	p	Osteoporosis	2/117	125/4277	0.5844286373230412	n.a	2	1.0	ALB, MMP2
C0020224	XX	p	Polyhydramnios	2/117	128/4277	0.58449631755959	n.a	2	1.0	CREBBP, FIG4
C1845847	XX	p	Coarse facial features	2/117	130/4277	0.5849710358268434	n.a	2	1.0	AIFM1, MMP2
C0019294	XX	p	Inguinal hernia	2/117	133/4277	0.5863001267052474	n.a	2	1.0	CREBBP, NOTCH1
CN210031	XX	p	Short long bone	2/117	137/4277	0.5891642997914177	n.a	2	1.0	NEK1, WNT7A
C4021611	XX	p	Abnormality of epiphysis morphology	2/117	137/4277	0.5891642997914177	n.a	2	1.0	AIFM1, CREBBP
C1848670	XX	p	Aplasia/Hypoplasia of the phalanges of the hand	2/117	139/4277	0.59103816982115	n.a	2	1.0	FIG4, WNT7A
C4023641	XX	p	Abnormality of the upper urinary tract	16/117	673/4277	0.6077600560405045	n.a	16	1.0	AGT, ALDOB, APOA1, APOE, BAX, CFH, CREBBP, FGA, GSN, HMOX1, IFNG, IL6, NEK1, PC, PRKCD, TP53
C0850826	XX	p	Localized skin lesion	8/117	363/4277	0.6157414367511397	n.a	8	1.0	CCL2, CREBBP, IFNG, IL6, LDLR, MMP2, NOTCH1, PRKCD
C4020870	XX	p	Abnormality of the hip joint	3/117	165/4277	0.6279390884710216	n.a	3	1.0	FIG4, MMP2, WNT7A
C4073159	XX	p	Abnormality of the skin of the palm	3/117	165/4277	0.6279390884710216	n.a	3	1.0	CREBBP, FIG4, GLE1
C1855340	XX	p	Bowing of the long bones	3/117	165/4277	0.6279390884710216	n.a	3	1.0	MMP9, PCYT1A, WNT7A
C4023618	XX	p	Abnormality of myeloid leukocytes	3/117	166/4277	0.6280878686281971	n.a	3	1.0	APOE, PNP, XIAP
C4025036	XX	p	Aplasia/Hypoplasia involving bones of the feet	3/117	166/4277	0.6280878686281971	n.a	3	1.0	FIG4, HTT, WNT7A
C0043094	XX	p	Increased body weight	3/117	169/4277	0.6288933922900948	n.a	3	1.0	CREBBP, PPARG, SPG11
C4025826	XX	p	Abnormality of the urethra	3/117	169/4277	0.6288933922900948	n.a	3	1.0	CREBBP, FIG4, WNT7A
C4025225	XX	p	Abnormality of the synovia	3/117	170/4277	0.629278982364545	n.a	3	1.0	FIG4, MMP2, WNT7A
C4021787	XX	p	Abnormal diaphysis morphology	3/117	173/4277	0.6307755073103717	n.a	3	1.0	MMP9, PCYT1A, WNT7A
C4021165	XX	p	Abnormality of long bone morphology	9/117	397/4277	0.6308171267854377	n.a	9	1.0	AIFM1, CFAP410, CREBBP, MMP2, MMP9, NEK1, PCYT1A, SQSTM1, WNT7A
C1854882	XX	p	Absent speech	4/117	208/4277	0.6609634292968897	n.a	4	1.0	GSX2, HTT, SLC1A2, SOD1
C4759671	XX	p	Deviation of finger	4/117	214/4277	0.6639699980141196	n.a	4	1.0	CREBBP, IGF1, PRKDC, WNT7A
C4021753	XX	p	Abnormality of the immune system	27/117	1070/4277	0.6665060268845374	n.a	27	1.0	ABCB1, APOA1, APOE, BAX, CFAP410, CFH, CREBBP, FGA, HNRNPA2B1, IFNG, IL6, JAK3, LAT, MMP2, NFE2L2, NOTCH1, PCYT1A, PNP, PRKCD, PRKDC, PSEN1, SETX, TALDO1, TBK1, TNF, TP53, XIAP
C4025246	XX	p	Abnormality of cardiac atrium	5/117	236/4277	0.6836865537327007	n.a	5	1.0	CREBBP, NEK1, NFE2L2, NOTCH1, TALDO1
C0162819	XX	p	Vascular skin abnormality	5/117	244/4277	0.6847234784345532	n.a	5	1.0	CFH, PPARG, SETX, TALDO1, VWF
C1860493	XX	p	Abnormality of the sternum	5/117	248/4277	0.6861064204740212	n.a	5	1.0	AIFM1, CREBBP, FIG4, NEK1, WNT7A
C0266292	XX	p	Abnormality of the kidney	16/117	656/4277	0.6971767326903442	n.a	16	1.0	AGT, ALDOB, APOA1, APOE, BAX, CFH, CREBBP, FGA, GSN, HMOX1, IFNG, IL6, NEK1, PC, PRKCD, TP53
C4025896	XX	p	Abnormality of the penis	6/117	282/4277	0.7042445761457783	n.a	6	1.0	ACTB, CREBBP, FIG4, NEK1, PRKDC, WNT7A
C4476878	XX	p	Abnormal morphology of the great vessels	6/117	286/4277	0.7055473292094887	n.a	6	1.0	ACTB, CREBBP, FIG4, NOTCH1, PRKCD, TALDO1
C4025724	XX	p	Abnormality of the cerebral ventricles	10/117	422/4277	0.7535598067651434	n.a	10	1.0	ACTB, ATXN2, CCL2, FIG4, GFAP, GRN, IFNG, NEK1, TP53, TUBA1A
C0239234	XX	p	Low-set ears	10/117	417/4277	0.7535729265125808	n.a	10	1.0	ACTB, AIFM1, CREBBP, CTSD, FIG4, GLE1, PRKDC, SOD1, TALDO1, WNT7A
C4021026	XX	p	Abnormal tendon morphology	11/117	461/4277	0.7623056465578218	n.a	11	1.0	AIFM1, ALS2, CREBBP, FIG4, GLE1, LDLR, MMP2, SLC1A2, SPG11, TTR, WNT7A
C0580316	XX	p	Abnormal neutrophil count	2/117	109/4277	0.7698633085394688	n.a	2	1.0	PNP, XIAP
C0024433	XX	p	Wide mouth	2/117	110/4277	0.7698818855940446	n.a	2	1.0	ACTB, TALDO1
C1849338	XX	p	Abnormality of the umbilicus	2/117	110/4277	0.7698818855940446	n.a	2	1.0	CREBBP, NOTCH1
C0751401	XX	p	Ophthalmoparesis	2/117	111/4277	0.7699601194988268	n.a	2	1.0	ATXN2, MAPT
C4025675	XX	p	Abnormality of the radius	2/117	111/4277	0.7699601194988268	n.a	2	1.0	CREBBP, WNT7A
C0220981	XX	p	Metabolic acidosis	2/117	111/4277	0.7699601194988268	n.a	2	1.0	ALDOB, PC
C0019554	XX	p	Hip dislocation	2/117	114/4277	0.7705415794632899	n.a	2	1.0	FIG4, WNT7A
C4025756	XX	p	Abnormal aortic morphology	2/117	115/4277	0.7708471919948312	n.a	2	1.0	CREBBP, TALDO1
C0018802	XX	p	Congestive heart failure	2/117	115/4277	0.7708471919948312	n.a	2	1.0	HADHA, PSEN1
C0427515	XX	p	Abnormality of neutrophils	2/117	118/4277	0.7720831831123072	n.a	2	1.0	PNP, XIAP
C4022452	XX	p	Abnormality of forearm bone	2/117	118/4277	0.7720831831123072	n.a	2	1.0	CREBBP, WNT7A
C4025666	XX	p	Abnormality of the forearm	2/117	121/4277	0.7737731884088482	n.a	2	1.0	CREBBP, WNT7A
C3887499	XX	p	Renal cyst	2/117	124/4277	0.7758851729237815	n.a	2	1.0	IFNG, NEK1
C3806226	XX	p	Ectopic calcification	2/117	124/4277	0.7758851729237815	n.a	2	1.0	IFNG, TREM2
C3665347	XX	p	Visual impairment	14/117	564/4277	0.7826158257954714	n.a	14	1.0	AHR, APOE, CFAP410, CFH, CREBBP, CTSD, DPP6, GRN, KIF5A, PCYT1A, PRKDC, SPG11, TTR, TUBB4B
C1866129	XX	p	Abnormality of the cerebellum	14/117	570/4277	0.7826885298302113	n.a	14	1.0	ARG1, ATG5, ATXN2, CTSD, DHFR, FIG4, GRN, HTT, NEK1, PRKDC, SETX, SOD1, SQSTM1, TUBA1A
C4023432	XX	p	Abnormality of the metencephalon	14/117	574/4277	0.7829782886004277	n.a	14	1.0	ARG1, ATG5, ATXN2, CTSD, DHFR, FIG4, GRN, HTT, NEK1, PRKDC, SETX, SOD1, SQSTM1, TUBA1A
C4021170	XX	p	Abnormality of hindbrain morphology	14/117	574/4277	0.7829782886004277	n.a	14	1.0	ARG1, ATG5, ATXN2, CTSD, DHFR, FIG4, GRN, HTT, NEK1, PRKDC, SETX, SOD1, SQSTM1, TUBA1A
C0239594	XX	p	Short finger	3/117	149/4277	0.7986412625013393	n.a	3	1.0	AIFM1, FIG4, PCYT1A
C4022678	XX	p	Abnormal female reproductive system physiology	3/117	151/4277	0.7989716742692715	n.a	3	1.0	PPARG, VWF, WNT7A
C4023721	XX	p	Abnormal hair pattern	3/117	151/4277	0.7989716742692715	n.a	3	1.0	ACTB, AIFM1, CREBBP
C4020961	XX	p	Displacement of the external urethral meatus	3/117	152/4277	0.7991928999753553	n.a	3	1.0	CREBBP, FIG4, WNT7A
C0013274	XX	p	Patent ductus arteriosus	3/117	154/4277	0.7997444020082298	n.a	3	1.0	ACTB, CREBBP, TALDO1
C0235401	XX	p	Abnormal glucose tolerance	3/117	155/4277	0.8000734581646058	n.a	3	1.0	CP, IL6, PPARG
C0035353	XX	p	Retrognathia	3/117	155/4277	0.8000734581646058	n.a	3	1.0	ACTB, CREBBP, GLE1
C0012691	XX	p	Joint dislocation	3/117	156/4277	0.8004372255239963	n.a	3	1.0	CREBBP, FIG4, WNT7A
C0020255	XX	p	Hydrocephalus	3/117	157/4277	0.8008350768039914	n.a	3	1.0	CCL2, GFAP, TP53
C0878638	XX	p	Abnormality of the tongue	3/117	158/4277	0.8012663789882299	n.a	3	1.0	ALS2, NEK1, OPTN
C1865017	XX	p	Thin upper lip vermilion	3/117	159/4277	0.801730493870787	n.a	3	1.0	ACTB, CREBBP, PRKDC
C1857108	XX	p	Limitation of joint mobility	3/117	161/4277	0.8027545868557528	n.a	3	1.0	MMP2, PCYT1A, WNT7A
C4025357	XX	p	Abnormality of body weight	21/117	818/4277	0.8123201060719893	n.a	21	1.0	ACTB, ALDOB, CREBBP, DCTN1, DPP6, FIG4, GRIA3, HADHA, IFNG, IGF1, IL6, JAK3, LAT, NFE2L2, NR1H4, PNP, PPARG, PYGL, SNCA, SPG11, TALDO1
C4531292	XX	p	Abnormal breast morphology	4/117	184/4277	0.8182002536694739	n.a	4	1.0	FIG4, PRKN, TP53, WNT7A
C4025829	XX	p	Abnormality of the breast	4/117	185/4277	0.8182631780872931	n.a	4	1.0	FIG4, PRKN, TP53, WNT7A
C1837249	XX	p	Abnormality of neuronal migration	5/117	223/4277	0.83298480030772	n.a	5	1.0	ACTB, FIG4, NEK1, PRKDC, TUBA1A
C0018817	XX	p	Atrial septal defect	5/117	226/4277	0.8333552137634244	n.a	5	1.0	CREBBP, NEK1, NFE2L2, NOTCH1, TALDO1
C0344722	XX	p	Abnormality of the atrial septum	5/117	227/4277	0.833521063554665	n.a	5	1.0	CREBBP, NEK1, NFE2L2, NOTCH1, TALDO1
C1849367	XX	p	Wide nasal bridge	5/117	227/4277	0.833521063554665	n.a	5	1.0	ACTB, CREBBP, CTSD, PRKDC, WNT7A
C0018818	XX	p	Ventricular septal defect	5/117	227/4277	0.833521063554665	n.a	5	1.0	CREBBP, FIG4, NEK1, NOTCH1, TALDO1
C4025763	XX	p	Abnormality of the rib cage	5/117	229/4277	0.8339148981409219	n.a	5	1.0	AIFM1, CFAP410, NEK1, PCYT1A, WNT7A
C0151583	XX	p	Abnormality of the cerebrospinal fluid	5/117	230/4277	0.8341423888959583	n.a	5	1.0	AIFM1, CCL2, GFAP, TP53, TTR
C0580531	XX	p	Abnormal leukocyte count	5/117	231/4277	0.8343899253366668	n.a	5	1.0	IFNG, JAK3, PNP, PRKCD, XIAP
C4021264	XX	p	Abnormal ventricular septum morphology	5/117	234/4277	0.8352502135424321	n.a	5	1.0	CREBBP, FIG4, NEK1, NOTCH1, TALDO1
C1855333	XX	p	External genital hypoplasia	5/117	234/4277	0.8352502135424321	n.a	5	1.0	ACTB, FIG4, NEK1, PRKDC, WNT7A
C0005745	XX	p	Ptosis	7/117	302/4277	0.8541065540187441	n.a	7	1.0	ACTB, CHCHD10, CREBBP, DLAT, GLE1, IGF1, KIF5A
C0001118	XX	p	Abnormality of acid-base homeostasis	8/117	326/4277	0.8610003101784982	n.a	8	1.0	AIFM1, ALDOB, CHCHD10, DLAT, HADHA, IL6, PC, SOD1
C4020971	XX	p	Abnormality of lower limb joint	8/117	334/4277	0.8611446246639631	n.a	8	1.0	CREBBP, FIG4, HTT, KIF5A, MMP2, SOD1, SPG11, WNT7A
C0015544	XX	p	Failure to thrive	13/117	511/4277	0.8854712726409042	n.a	13	1.0	ACTB, ALDOB, CREBBP, FIG4, HADHA, IFNG, JAK3, LAT, NFE2L2, NR1H4, PNP, PYGL, TALDO1
C4021207	XX	p	Abnormality of the cerebral subcortex	15/117	595/4277	0.8920602780583086	n.a	15	1.0	ACTB, AIFM1, ATXN2, CREBBP, FIG4, GSX2, HTT, MAPT, PC, PRKDC, PRKN, SLC1A2, SPG11, TREM2, TUBA1A
C4022992	XX	p	Abnormal respiratory system morphology	16/117	620/4277	0.8944139918931387	n.a	16	1.0	AGT, CFAP410, CREBBP, GLE1, IFNG, JAK3, LAT, MATR3, NEK1, NFE2L2, PNP, PRKCD, PRKDC, PRKN, TP53, XIAP
C4025846	XX	p	Abnormality of vision	16/117	633/4277	0.8948021242093378	n.a	16	1.0	AHR, APOE, CFAP410, CFH, CREBBP, CTSD, DPP6, GRN, KIF5A, MAPT, PCYT1A, PRKDC, SPG11, TNF, TTR, TUBB4B
C4025804	XX	p	Abnormality of the fundus	20/117	762/4277	0.9030134794840362	n.a	20	1.0	ACTB, AHR, AIFM1, APOE, ATXN2, CFAP410, CFH, CP, CREBBP, CST3, CTSD, DPP6, GRN, HADHA, IFNG, NEK1, PCYT1A, SPG11, TP53, TUBB4B
C0241657	XX	p	Abnormality of the vasculature	26/117	980/4277	0.9116058088630312	n.a	26	1.0	ACTB, APOA1, APOE, APP, CFAP410, CFH, CREBBP, CST3, FGA, FIG4, IFNG, IL6, JAK3, LAT, LDLR, MTHFR, NOS3, NOTCH1, PNP, PPARG, PRKCD, SETX, TALDO1, TTR, VWF, XIAP
C0042063	XX	p	Abnormality of the genitourinary system	41/117	1529/4277	0.9222685102298298	n.a	41	1.0	ACTB, AGT, ALDOB, ALS2, APOA1, APOE, ARG1, ATXN2, BAX, CCL2, CFAP410, CFH, CHMP2B, CREBBP, FGA, FIG4, GLE1, GSN, HADHA, HMOX1, IFNG, IL6, KIF5A, MAPT, MTHFR, NEK1, NOS3, PC, PNP, PPARG, PRKCD, PRKDC, PRKN, SNCA, SPG11, SQSTM1, TALDO1, TP53, TTR, VWF, WNT7A
C1398312	XX	p	Narrow palate	2/117	78/4277	1.0	n.a	2	1.0	CREBBP, WNT7A
C4025745	XX	p	Abnormality of the metatarsal bones	2/117	85/4277	1.0	n.a	2	1.0	MMP2, WNT7A
C0423224	XX	p	Deeply set eye	3/117	133/4277	1.0	n.a	3	1.0	CREBBP, GRIA3, PRKDC
C4021205	XX	p	Abnormal systemic arterial morphology	5/117	204/4277	1.0	n.a	5	1.0	APP, CREBBP, LDLR, PPARG, TALDO1
C1836192	XX	p	Aplasia/Hypoplasia involving the metacarpal bones	2/117	96/4277	1.0	n.a	2	1.0	PCYT1A, WNT7A
C0854107	XX	p	Subcutaneous hemorrhage	2/117	103/4277	1.0	n.a	2	1.0	CFH, VWF
C0020490	XX	p	Hypermetropia	3/117	117/4277	1.0	n.a	3	1.0	CREBBP, NEK1, TUBB4B
C0015300	XX	p	Proptosis	3/117	138/4277	1.0	n.a	3	1.0	CREBBP, FIG4, MMP2
C0035243	XX	p	Respiratory tract infection	8/117	303/4277	1.0	n.a	8	1.0	CFAP410, CREBBP, JAK3, NFE2L2, PNP, PRKCD, PRKDC, XIAP
C0262630	XX	p	Short attention span	3/117	117/4277	1.0	n.a	3	1.0	CREBBP, IFNG, IGF1
C0026106	XX	p	Intellectual disability, mild	3/117	119/4277	1.0	n.a	3	1.0	ACTB, DLAT, NFE2L2
C0853986	XX	p	Lymphopenia	2/117	77/4277	1.0	n.a	2	1.0	JAK3, PNP
C0239998	XX	p	Recurrent infections	12/117	467/4277	1.0	n.a	12	1.0	CFAP410, CFH, CREBBP, JAK3, LAT, NFE2L2, PCYT1A, PNP, PRKCD, PRKDC, PSEN1, XIAP
C0011849	XX	p	Diabetes mellitus	3/117	143/4277	1.0	n.a	3	1.0	CP, IL6, PPARG
C0016202	XX	p	Pes planus	3/117	125/4277	1.0	n.a	3	1.0	CHCHD10, CREBBP, MMP2
C4025888	XX	p	Abnormality of the menstrual cycle	3/117	138/4277	1.0	n.a	3	1.0	PPARG, VWF, WNT7A
C3276746	XX	p	Duplication of hand bones	2/117	97/4277	1.0	n.a	2	1.0	NEK1, WNT7A
C0235991	XX	p	Small for gestational age	3/117	111/4277	1.0	n.a	3	1.0	ACTB, HADHA, TALDO1
C0019322	XX	p	Umbilical hernia	2/117	104/4277	1.0	n.a	2	1.0	CREBBP, NOTCH1
C4021349	XX	p	Duplication of phalanx of hand	2/117	96/4277	1.0	n.a	2	1.0	NEK1, WNT7A
C0037199	XX	p	Sinusitis	2/117	82/4277	1.0	n.a	2	1.0	PNP, PRKCD
C4021818	XX	p	Abnormality of the ovary	2/117	75/4277	1.0	n.a	2	1.0	PPARG, PRKN
C0478012	XX	p	Congenital malformation of the great arteries	5/117	200/4277	1.0	n.a	5	1.0	ACTB, CREBBP, FIG4, NOTCH1, TALDO1
C4025734	XX	p	Abnormality of the scalp	4/117	174/4277	1.0	n.a	4	1.0	ACTB, AIFM1, CREBBP, FIG4
C1837658	XX	p	Delayed gross motor development	4/117	172/4277	1.0	n.a	4	1.0	ATG5, CREBBP, DLAT, PNP
C0424295	XX	p	Hyperactivity	5/117	196/4277	1.0	n.a	5	1.0	ARG1, CREBBP, DPP6, IFNG, IGF1
C0001122	XX	p	Acidosis	8/117	300/4277	1.0	n.a	8	1.0	AIFM1, ALDOB, CHCHD10, DLAT, HADHA, IL6, PC, SOD1
C4023580	XX	p	Abnormality of renal cortex morphology	3/117	113/4277	1.0	n.a	3	1.0	APOE, CFH, PRKCD
C2939416	XX	p	Pectus carinatum	2/117	79/4277	1.0	n.a	2	1.0	NEK1, WNT7A
C4551492	XX	p	Micropenis	4/117	173/4277	1.0	n.a	4	1.0	ACTB, FIG4, NEK1, PRKDC
C0332878	XX	p	Congenital contracture	2/117	94/4277	1.0	n.a	2	1.0	FIG4, GLE1
C1852534	XX	p	Hypoplastic male external genitalia	5/117	209/4277	1.0	n.a	5	1.0	ACTB, FIG4, NEK1, PRKDC, WNT7A
C1849937	XX	p	Disproportionate short-limb short stature	2/117	74/4277	1.0	n.a	2	1.0	CFAP410, PCYT1A
C0010038	XX	p	Corneal opacity	3/117	111/4277	1.0	n.a	3	1.0	FIG4, LDLR, MMP2
C1837260	XX	p	Prominent forehead	3/117	141/4277	1.0	n.a	3	1.0	CREBBP, GLE1, PRKDC
C0576226	XX	p	Short foot	2/117	77/4277	1.0	n.a	2	1.0	HTT, WNT7A
C0036572	XX	p	Seizures	32/117	1193/4277	1.0	n.a	32	1.0	ACTB, AIFM1, ALDOB, APOE, ARG1, CFH, CREBBP, CTSD, DHFR, FIG4, GABRA1, GDI1, GFAP, GLE1, GRIA3, GRN, HTT, IFNG, KIF5A, MTHFR, NOS3, NOTCH1, PC, PRKDC, PSEN1, SLC1A2, SLC6A1, TBK1, TP53, TREM2, TTR, TUBA1A
C1837482	XX	p	Thoracic hypoplasia	2/117	99/4277	1.0	n.a	2	1.0	CFAP410, NEK1
C0740279	XX	p	Cerebellar atrophy	7/117	277/4277	1.0	n.a	7	1.0	ARG1, CTSD, GRN, HTT, SETX, SOD1, SQSTM1
C0266470	XX	p	Congenital cerebellar hypoplasia	6/117	246/4277	1.0	n.a	6	1.0	ATG5, DHFR, FIG4, NEK1, PRKDC, TUBA1A
C0009806	XX	p	Constipation	4/117	149/4277	1.0	n.a	4	1.0	ATXN2, CREBBP, MAPT, TTR
C3839073	XX	p	Abnormal nipple morphology	2/117	104/4277	1.0	n.a	2	1.0	FIG4, WNT7A
C1868571	XX	p	Highly arched eyebrow	2/117	91/4277	1.0	n.a	2	1.0	ACTB, CREBBP
C0543888	XX	p	Epileptic encephalopathy	2/117	92/4277	1.0	n.a	2	1.0	GABRA1, SLC1A2
C0221356	XX	p	Brachycephaly	3/117	124/4277	1.0	n.a	3	1.0	GRIA3, MMP2, NEK1
C1859077	XX	p	Aplasia/Hypoplasia of the nails	2/117	98/4277	1.0	n.a	2	1.0	FIG4, WNT7A
C0028077	XX	p	Nyctalopia	2/117	103/4277	1.0	n.a	2	1.0	AHR, CFAP410
C4025839	XX	p	Abnormality of the frontal hairline	2/117	81/4277	1.0	n.a	2	1.0	AIFM1, CREBBP
C1840379	XX	p	Cerebellar vermis hypoplasia	3/117	120/4277	1.0	n.a	3	1.0	NEK1, PRKDC, TUBA1A
C0678199	XX	p	Anemia of inadequate production	2/117	99/4277	1.0	n.a	2	1.0	DHFR, PLA2G4A
C4018849	XX	p	Abnormal fear/anxiety-related behavior	2/117	91/4277	1.0	n.a	2	1.0	CREBBP, PARK7
C4022950	XX	p	Abnormal homeostasis	22/117	819/4277	1.0	n.a	22	1.0	AIFM1, ALDOB, APOA1, CFH, CHCHD10, CP, DLAT, FGA, FIG4, GLE1, HADHA, IFNG, IL6, NEK1, NOS3, NR1H4, PC, PPARG, PRKCD, PYGL, SOD1, XIAP
C0036439	XX	p	Scoliosis	15/117	550/4277	1.0	n.a	15	1.0	ACTB, ALS2, CREBBP, DPP6, GLE1, HTT, KIF5A, MAPT, MMP2, PCYT1A, SETX, SLC1A2, SLC6A1, SORD, SPG11
C4021615	XX	p	Abnormal metacarpal morphology	3/117	114/4277	1.0	n.a	3	1.0	MMP2, PCYT1A, WNT7A
C0035078	XX	p	Renal insufficiency	4/117	180/4277	1.0	n.a	4	1.0	APOE, CFH, GSN, PRKCD
C0011991	XX	p	Diarrhea	5/117	191/4277	1.0	n.a	5	1.0	CFH, IFNG, IL6, JAK3, TTR
C4025712	XX	p	Abnormality of the cerebellar vermis	3/117	143/4277	1.0	n.a	3	1.0	NEK1, PRKDC, TUBA1A
C4023306	XX	p	Abnormal connection of the cardiac segments	2/117	76/4277	1.0	n.a	2	1.0	FIG4, NOTCH1
C4023042	XX	p	Abnormality of the mitochondrion	2/117	75/4277	1.0	n.a	2	1.0	DLAT, HADHA
CN002695	XX	p	Bowing of the legs	3/117	139/4277	1.0	n.a	3	1.0	MMP9, PCYT1A, WNT7A
C2959359	XX	p	Abnormal ventriculo-arterial connection	2/117	76/4277	1.0	n.a	2	1.0	FIG4, NOTCH1
C4021816	XX	p	Abnormality of the gingiva	2/117	83/4277	1.0	n.a	2	1.0	IFNG, MMP2
C0234162	XX	p	Dysmetria	3/117	111/4277	1.0	n.a	3	1.0	ATG5, ATXN2, SQSTM1
C4023527	XX	p	Abnormality of skin physiology	6/117	238/4277	1.0	n.a	6	1.0	APOA1, FGA, IFNG, NFE2L2, PSEN1, XIAP
C0002453	XX	p	Amenorrhea	2/117	97/4277	1.0	n.a	2	1.0	PPARG, WNT7A
C4025071	XX	p	Aplasia/Hypoplasia of fingers	4/117	170/4277	1.0	n.a	4	1.0	AIFM1, FIG4, PCYT1A, WNT7A
C4023398	XX	p	Congenital abnormal hair pattern	3/117	142/4277	1.0	n.a	3	1.0	ACTB, AIFM1, CREBBP
C1861141	XX	p	Abnormality of the middle ear	5/117	216/4277	1.0	n.a	5	1.0	AIFM1, JAK3, PCYT1A, PNP, PRKCD
C4020716	XX	p	Abnormal male reproductive system physiology	2/117	103/4277	1.0	n.a	2	1.0	CFAP410, TTR
C1856019	XX	p	Abnormal cortical gyration	5/117	189/4277	1.0	n.a	5	1.0	ACTB, FIG4, NEK1, PRKDC, TUBA1A
C0001807	XX	p	Aggressive behavior	3/117	142/4277	1.0	n.a	3	1.0	CHMP2B, FIG4, GRIA3
C0220697	XX	p	Postaxial polydactyly	2/117	105/4277	1.0	n.a	2	1.0	NEK1, WNT7A
C0521525	XX	p	Short neck	5/117	185/4277	1.0	n.a	5	1.0	ACTB, AIFM1, GLE1, TALDO1, WNT7A
C4023412	XX	p	Abnormality of cranial sutures	4/117	175/4277	1.0	n.a	4	1.0	AGT, AIFM1, CREBBP, MMP2
C0266435	XX	p	Hypoplasia of penis	4/117	176/4277	1.0	n.a	4	1.0	ACTB, FIG4, NEK1, PRKDC
C1853487	XX	p	Thick eyebrow	2/117	77/4277	1.0	n.a	2	1.0	AIFM1, CREBBP
C4021785	XX	p	Abnormality of the metacarpal bones	3/117	127/4277	1.0	n.a	3	1.0	MMP2, PCYT1A, WNT7A
C4021744	XX	p	Abnormality of the wrist	2/117	84/4277	1.0	n.a	2	1.0	MMP2, WNT7A
C4025751	XX	p	Abnormality of the pancreas	2/117	100/4277	1.0	n.a	2	1.0	NEK1, TP53
C4024574	XX	p	Duplication of bones involving the upper extremities	2/117	97/4277	1.0	n.a	2	1.0	NEK1, WNT7A
C4022516	XX	p	Lower extremity joint dislocation	3/117	125/4277	1.0	n.a	3	1.0	CREBBP, FIG4, WNT7A
C1277241	XX	p	Delayed myelination	3/117	143/4277	1.0	n.a	3	1.0	AIFM1, DHFR, KIF5A
C0853697	XX	p	Neutropenia	2/117	103/4277	1.0	n.a	2	1.0	PNP, XIAP
C1850601	XX	p	Abnormality of brainstem morphology	2/117	97/4277	1.0	n.a	2	1.0	SETX, TUBA1A
C0023530	XX	p	Leukopenia	2/117	103/4277	1.0	n.a	2	1.0	JAK3, PNP
C4024963	XX	p	Abnormal aggressive, impulsive or violent behavior	4/117	178/4277	1.0	n.a	4	1.0	CHMP2B, CREBBP, FIG4, GRIA3
C4021593	XX	p	Abnormality of limb epiphysis morphology	2/117	78/4277	1.0	n.a	2	1.0	AIFM1, CREBBP
C1390474	XX	p	Increased susceptibility to fractures	2/117	88/4277	1.0	n.a	2	1.0	SQSTM1, TREM2
C1832160	XX	p	Abnormality of temperature regulation	4/117	170/4277	1.0	n.a	4	1.0	CFH, IFNG, PRKCD, XIAP
C0027498	XX	p	Nausea and vomiting	4/117	148/4277	1.0	n.a	4	1.0	ALDOB, ARG1, TNF, TP53
C3279222	XX	p	Aplasia/Hypoplasia of the cerebellum	6/117	250/4277	1.0	n.a	6	1.0	ATG5, DHFR, FIG4, NEK1, PRKDC, TUBA1A
C0578038	XX	p	Thin vermilion border	5/117	198/4277	1.0	n.a	5	1.0	ACTB, CREBBP, FIG4, PRKDC, TALDO1
C4022384	XX	p	Abnormality of the scalp hair	4/117	172/4277	1.0	n.a	4	1.0	ACTB, AIFM1, CREBBP, FIG4
C0029453	XX	p	Osteopenia	3/117	133/4277	1.0	n.a	3	1.0	IGF1, MMP2, TREM2
C0751837	XX	p	Gait ataxia	3/117	113/4277	1.0	n.a	3	1.0	HTT, SETX, SQSTM1
C4321245	XX	p	Cleft lip	3/117	132/4277	1.0	n.a	3	1.0	ACTB, IL1B, NEK1
C0266464	XX	p	Polymicrogyria	2/117	93/4277	1.0	n.a	2	1.0	FIG4, TUBA1A
C0027766	XX	p	Neoplasm of the nervous system	2/117	76/4277	1.0	n.a	2	1.0	IFNG, TP53
C4025873	XX	p	Abnormality of the paranasal sinuses	2/117	96/4277	1.0	n.a	2	1.0	PNP, PRKCD
C4021789	XX	p	Abnormality of the vertebral column	22/117	810/4277	1.0	n.a	22	1.0	ACTB, AIFM1, ALS2, CCL2, CFAP410, CREBBP, DPP6, GLE1, HTT, KIF5A, MAPT, MMP2, NEK1, PCYT1A, SETX, SLC1A2, SLC6A1, SORD, SPG11, TALDO1, VCP, WNT7A
C1561643	XX	p	Chronic kidney disease	2/117	90/4277	1.0	n.a	2	1.0	CFH, PRKCD
C4025109	XX	p	Abnormal hand morphology	5/117	206/4277	1.0	n.a	5	1.0	AIFM1, FIG4, GLE1, PCYT1A, PRKDC
C4024297	XX	p	Abnormality of the hairline	3/117	123/4277	1.0	n.a	3	1.0	ACTB, AIFM1, CREBBP
C1855676	XX	p	Aplasia/Hypoplasia of the cerebellar vermis	3/117	125/4277	1.0	n.a	3	1.0	NEK1, PRKDC, TUBA1A
C0158733	XX	p	Hand polydactyly	2/117	80/4277	1.0	n.a	2	1.0	NEK1, WNT7A