# 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	28/59	33/4277	8.986167395854265e-51	n.a	28	6.8348789212867535e-47	ALS2, ANG, ANXA11, CCNF, CHCHD10, DCTN1, ERBB4, FIG4, FUS, HNRNPA1, KIF5A, MATR3, NEFH, OPTN, PFN1, PRPH, SETX, SIGMAR1, SOD1, SPG11, SQSTM1, TARDBP, TBK1, TRPM7, TUBA4A, UBQLN2, VAPB, VCP
C4024896	XX	e	Motor neuron atrophy	28/59	40/4277	2.01302685645018e-46	n.a	28	7.655541135080035e-43	ALS2, ANG, ANXA11, CCNF, CHCHD10, DCTN1, ERBB4, FIG4, FUS, HNRNPA1, KIF5A, MATR3, NEFH, OPTN, PFN1, PRPH, SETX, SIGMAR1, SOD1, SPG11, SQSTM1, TARDBP, TBK1, TRPM7, TUBA4A, UBQLN2, VAPB, VCP
C4025707	XX	e	Abnormal motor neuron morphology	29/59	50/4277	1.6681006680821478e-44	n.a	29	3.1718934203582035e-41	ALS2, ANG, ANXA11, CCNF, CHCHD10, DCTN1, ERBB4, FIG4, FUS, GLE1, HNRNPA1, KIF5A, MATR3, NEFH, OPTN, PFN1, PRPH, SETX, SIGMAR1, SOD1, SPG11, SQSTM1, TARDBP, TBK1, TRPM7, TUBA4A, UBQLN2, VAPB, VCP
C4022739	XX	e	Abnormal neuron morphology	29/59	50/4277	1.6681006680821478e-44	n.a	29	3.1718934203582035e-41	ALS2, ANG, ANXA11, CCNF, CHCHD10, DCTN1, ERBB4, FIG4, FUS, GLE1, HNRNPA1, KIF5A, MATR3, NEFH, OPTN, PFN1, PRPH, SETX, SIGMAR1, SOD1, SPG11, SQSTM1, TARDBP, TBK1, TRPM7, TUBA4A, UBQLN2, VAPB, VCP
C4024899	XX	e	Atrophy/Degeneration affecting the central nervous system	35/59	466/4277	1.1082950430576668e-19	n.a	35	1.6859384194993231e-16	ALS2, ANG, ANXA11, ATXN2, CCNF, CHCHD10, CHMP2B, CTSD, DCTN1, ERBB4, FIG4, FUS, GLE1, HNRNPA1, KIF5A, MATR3, NEFH, NEK1, OPTN, PFN1, PRPH, SETX, SIGMAR1, SLC1A2, SOD1, SPG11, SQSTM1, TARDBP, TBK1, TREM2, TRPM7, TUBA4A, UBQLN2, VAPB, VCP
C0338451	XX	e	Frontotemporal dementia	11/59	18/4277	3.8229202327611375e-17	n.a	11	4.8461885483968694e-14	CCNF, CHCHD10, CHMP2B, DCTN1, HNRNPA2B1, SQSTM1, TARDBP, TBK1, TUBA4A, UBQLN2, VCP
C0015644	XX	e	Fasciculations	15/59	52/4277	5.696711251150711e-17	n.a	15	6.189883682321759e-14	ATXN2, CCNF, CHCHD10, DCTN1, FUS, NEFH, OPTN, PFN1, PRPH, SOD1, SPG11, SQSTM1, TBK1, VAPB, VCP
C1865412	XX	e	Abnormal lower motor neuron morphology	9/59	12/4277	2.046278016147767e-15	n.a	9	1.945498823852489e-12	ALS2, DCTN1, MATR3, SETX, SIGMAR1, SPG11, SQSTM1, TBK1, TRPM7
C0497327	XX	e	Dementia	16/59	127/4277	5.273277418715273e-12	n.a	16	4.4565053385275965e-09	ATXN2, CCNF, CHCHD10, CHMP2B, CST3, DCTN1, HNRNPA2B1, MATR3, SQSTM1, TARDBP, TBK1, TREM2, TRPM7, TUBA4A, UBQLN2, VCP
C0541794	XX	e	Skeletal muscle atrophy	22/59	297/4277	1.3128206154719399e-11	n.a	22	9.985313601279576e-09	ALS2, ANG, ATXN2, CHCHD10, DCTN1, FIG4, FUS, GLE1, HNRNPA1, HNRNPA2B1, NEFH, PFN1, PRPH, SETX, SIGMAR1, SOD1, SPG11, SQSTM1, TARDBP, TBK1, VAPB, VCP
C0011168	XX	e	Dysphagia	19/59	218/4277	2.887152852827165e-11	n.a	19	1.9963349635094015e-08	ALS2, ATXN2, CHCHD10, DCTN1, KIF5A, MATR3, NEFH, NEK1, OPTN, PFN1, PRPH, SETX, SOD1, SPG11, SQSTM1, TARDBP, TBK1, UBQLN2, VAPB
C0234985	XX	e	Mental deterioration	18/59	205/4277	9.6857166470696e-11	n.a	18	6.139130068134282e-08	ATXN2, CCNF, CHCHD10, CHMP2B, CST3, CTSD, DCTN1, HNRNPA2B1, MATR3, SPG11, SQSTM1, TARDBP, TBK1, TREM2, TRPM7, TUBA4A, UBQLN2, VCP
C0013362	XX	e	Dysarthria	21/59	325/4277	6.007311563053986e-10	n.a	21	3.514739365276048e-07	ALS2, ATXN2, CCNF, CHCHD10, DCTN1, GLE1, MATR3, NEFH, NEK1, OPTN, PFN1, PRPH, SETX, SOD1, SPG11, SQSTM1, TARDBP, TBK1, UBQLN2, VAPB, VCP
C0151786	XX	e	Muscle weakness	26/59	531/4277	1.1521126620191958e-09	n.a	26	6.259263505227145e-07	ALS2, ANG, CCNF, CHCHD10, DCTN1, ERBB4, FIG4, GLE1, GRIA3, HNRNPA1, KIF5A, MATR3, NEFH, OPTN, PFN1, PRPH, SETX, SIGMAR1, SOD1, SPG11, SQSTM1, TARDBP, TBK1, TRPM7, VAPB, VCP
C4022563	XX	e	Abnormality of muscle size	22/59	383/4277	1.9647214662466328e-09	n.a	22	9.96244764818126e-07	ALS2, ANG, ATXN2, CHCHD10, DCTN1, FIG4, FUS, GLE1, HNRNPA1, HNRNPA2B1, NEFH, PFN1, PRPH, SETX, SIGMAR1, SOD1, SPG11, SQSTM1, TARDBP, TBK1, VAPB, VCP
C4476684	XX	e	Abnormality of esophagus physiology	20/59	330/4277	5.491503252152241e-09	n.a	20	2.610523358491872e-06	ALS2, ATXN2, CHCHD10, CREBBP, DCTN1, KIF5A, MATR3, NEFH, NEK1, OPTN, PFN1, PRPH, SETX, SOD1, SPG11, SQSTM1, TARDBP, TBK1, UBQLN2, VAPB
C4022755	XX	e	Functional abnormality of the gastrointestinal tract	23/59	450/4277	7.281404493270997e-09	n.a	23	3.257786033871718e-06	ALS2, ATXN2, CHCHD10, CREBBP, DCTN1, JAK3, KIF5A, MATR3, NEFH, NEK1, OPTN, PFN1, PLA2G4A, PRPH, SETX, SOD1, SPG11, SQSTM1, TARDBP, TBK1, UBQLN2, VAPB, XIAP
C0154681	XX	e	Abnormal anterior horn cell morphology	6/59	13/4277	8.468335114043986e-09	n.a	6	3.578342048745475e-06	DCTN1, GLE1, NEFH, PRPH, SETX, SOD1
C4025704	XX	e	Abnormality of the corticospinal tract	6/59	14/4277	1.4661981092823341e-08	n.a	6	5.869422536421806e-06	ALS2, DCTN1, NEFH, PRPH, SOD1, SPG11
C0427086	XX	e	Involuntary movements	25/59	590/4277	5.7919516998016626e-08	n.a	25	2.2026792314345723e-05	ATXN2, CCNF, CHCHD10, CHMP2B, CREBBP, DCTN1, FUS, GRIA3, KIF5A, NEFH, OPTN, PARK7, PFN1, PRPH, SETX, SLC6A1, SOD1, SPG11, SQSTM1, TARDBP, TBK1, TREM2, UBQLN2, VAPB, VCP
C4021761	XX	e	Morphological abnormality of the pyramidal tract	7/59	32/4277	1.6992927807621384e-07	n.a	7	6.154676614512772e-05	ALS2, DCTN1, NEFH, PRPH, SOD1, SPG11, VAPB
C1846566	XX	e	Degeneration of the lateral corticospinal tracts	5/59	11/4277	1.8242333345165118e-07	n.a	5	6.306872155605721e-05	DCTN1, NEFH, PRPH, SOD1, SPG11
C4024897	XX	e	Atrophy/Degeneration involving the corticospinal tracts	5/59	12/4277	3.0943365082553614e-07	n.a	5	9.414209392716111e-05	DCTN1, NEFH, PRPH, SOD1, SPG11
C1843505	XX	e	Degeneration of anterior horn cells	5/59	12/4277	3.0943365082553614e-07	n.a	5	9.414209392716111e-05	DCTN1, NEFH, PRPH, SETX, SOD1
C1838579	XX	e	Pseudobulbar signs	5/59	12/4277	3.0943365082553614e-07	n.a	5	9.414209392716111e-05	ALS2, DCTN1, NEFH, PRPH, SOD1
C1856507	XX	e	Bulbar signs	4/59	6/4277	4.802830142912063e-07	n.a	4	0.0001405012541038	FIG4, GFAP, MATR3, SPG11
C4021765	XX	e	Morphological abnormality of the central nervous system	44/59	1837/4277	8.990733888749616e-07	n.a	44	0.0002532723035475	ALS2, ANG, ANXA11, ATXN2, CCNF, CHCHD10, CHMP2B, CREBBP, CST3, CTSD, DCTN1, DPP6, ERBB4, FIG4, FUS, GFAP, GLE1, GSX2, HNRNPA1, JAK3, KIF5A, MATR3, NEFH, NEK1, OPTN, PFN1, PRPH, SETX, SIGMAR1, SLC1A2, SOD1, SPG11, SQSTM1, TARDBP, TBK1, TP53, TREM2, TRPM7, TUBA4A, UBQLN2, VAPB, VCP, WNT7A, XIAP
C0026650	XX	e	Movement disorder	34/59	1214/4277	2.8475481237073564e-06	n.a	34	0.0007735161081756	ALS2, ATXN2, CCNF, CHCHD10, CHMP2B, CREBBP, DCTN1, ERBB4, FIG4, FUS, GLE1, GRIA3, GSX2, KIF5A, MATR3, NEFH, NEK1, OPTN, PARK7, PFN1, PRPH, SETX, SIGMAR1, SLC1A2, SLC6A1, SOD1, SPG11, SQSTM1, TARDBP, TBK1, TREM2, UBQLN2, VAPB, VCP
C0033790	XX	e	Pseudobulbar paralysis	4/59	9/4277	3.91111573943733e-06	n.a	4	0.0010257912522124	DCTN1, NEFH, PRPH, SOD1
C4025831	XX	e	Abnormal peripheral nervous system morphology	20/59	496/4277	4.788238770312778e-06	n.a	20	0.0012139781362332	ALS2, ATXN2, CHCHD10, CTSD, DCTN1, FIG4, GLE1, KIF5A, MATR3, NEFH, PRPH, SETX, SIGMAR1, SOD1, SPG11, SQSTM1, TBK1, TRPM7, UBQLN2, VCP
C4551583	XX	e	Cerebral cortical atrophy	9/59	97/4277	5.37757536530366e-06	n.a	9	0.0013194141364032	ALS2, CHCHD10, CHMP2B, NEK1, SPG11, SQSTM1, TBK1, TREM2, VCP
C0037763	XX	e	Muscle cramps	7/59	53/4277	6.212871025944267e-06	n.a	7	0.0014767217819791	CHCHD10, DCTN1, NEFH, PRPH, SOD1, TRPM7, VAPB
C4025723	XX	e	Abnormal upper motor neuron morphology	4/59	10/4277	6.451484651534407e-06	n.a	4	0.0014869694624112	ALS2, MATR3, SETX, SIGMAR1
C0333773	XX	e	Rimmed vacuoles	5/59	21/4277	7.228433637680865e-06	n.a	5	0.0015708418928057	HNRNPA1, MATR3, NEFH, SQSTM1, VCP
C0085632	XX	e	Apathy	5/59	21/4277	7.228433637680865e-06	n.a	5	0.0015708418928057	CHMP2B, DCTN1, SQSTM1, TARDBP, TBK1
C4023588	XX	e	Abnormality of the gastrointestinal tract	25/59	759/4277	7.792976068227212e-06	n.a	25	0.0016283784073149	ALS2, ATXN2, CHCHD10, CREBBP, DCTN1, FIG4, JAK3, KIF5A, MATR3, NEFH, NEK1, OPTN, PFN1, PLA2G4A, PRPH, SETX, SOD1, SPG11, SQSTM1, TARDBP, TBK1, TP53, UBQLN2, VAPB, XIAP
C0151889	XX	e	Hyperreflexia	17/59	380/4277	7.921378000348734e-06	n.a	17	0.0016283784073149	ALS2, CHMP2B, CREBBP, DCTN1, GLE1, KIF5A, MATR3, NEFH, NEK1, PARK7, PRPH, SETX, SIGMAR1, SOD1, SPG11, SQSTM1, TBK1
C0427065	XX	e	Distal muscle weakness	9/59	103/4277	8.856774669229974e-06	n.a	9	0.0017727533719516	ANG, DCTN1, FIG4, GRIA3, MATR3, SETX, SIGMAR1, SPG11, VAPB
C0456814	XX	e	Diminished motivation	5/59	22/4277	9.256080998523702e-06	n.a	5	0.0018051731301223	CHMP2B, DCTN1, SQSTM1, TARDBP, TBK1
C0034935	XX	e	Babinski sign	11/59	165/4277	1.1315013794229172e-05	n.a	11	0.0021515498729726	ALS2, CHCHD10, CHMP2B, KIF5A, NEFH, SETX, SIGMAR1, SOD1, SPG11, TARDBP, TREM2
C0424296	XX	e	Disinhibition	6/59	40/4277	1.4193961234802132e-05	n.a	6	0.002633152906144	CHMP2B, CREBBP, SQSTM1, TARDBP, TBK1, TREM2
C1839042	XX	e	Upper motor neuron dysfunction	24/59	737/4277	1.6233362137066955e-05	n.a	24	0.0029397845812983	ALS2, ANG, ATXN2, CHCHD10, CHMP2B, CTSD, DCTN1, FIG4, GFAP, GSX2, KIF5A, NEFH, NEK1, PFN1, PRPH, SETX, SIGMAR1, SLC1A2, SOD1, SPG11, SQSTM1, TARDBP, TBK1, TREM2
C4022810	XX	e	Abnormality of nervous system morphology	44/59	2016/4277	1.9023030240333716e-05	n.a	44	0.0033648643722785	ALS2, ANG, ANXA11, ATXN2, CCNF, CHCHD10, CHMP2B, CREBBP, CST3, CTSD, DCTN1, DPP6, ERBB4, FIG4, FUS, GFAP, GLE1, GSX2, HNRNPA1, JAK3, KIF5A, MATR3, NEFH, NEK1, OPTN, PFN1, PRPH, SETX, SIGMAR1, SLC1A2, SOD1, SPG11, SQSTM1, TARDBP, TBK1, TP53, TREM2, TRPM7, TUBA4A, UBQLN2, VAPB, VCP, WNT7A, XIAP
C0026884	XX	e	Mutism	4/59	14/4277	2.950710568767754e-05	n.a	4	0.005100705587738	CHMP2B, GLE1, SQSTM1, TBK1
C0234132	XX	e	Abnormal pyramidal signs	12/59	218/4277	3.0248359382529143e-05	n.a	12	0.0051126449214114	ALS2, CHCHD10, CHMP2B, KIF5A, NEFH, SETX, SIGMAR1, SOD1, SPG11, SQSTM1, TARDBP, TREM2
C1847584	XX	e	Distal sensory impairment	8/59	95/4277	3.848705756895931e-05	n.a	8	0.0063637513015109	CHCHD10, FIG4, KIF5A, MATR3, NEFH, SETX, SPG11, VCP
C0587246	XX	e	Limb muscle weakness	9/59	125/4277	4.26387295052336e-05	n.a	9	0.0069002165237618	CCNF, CHCHD10, DCTN1, KIF5A, NEFH, SIGMAR1, SPG11, SQSTM1, VCP
C0037822	XX	e	Neurological speech impairment	26/59	887/4277	5.711267853641418e-05	n.a	26	0.0090499798530826	ALS2, ATXN2, CCNF, CHCHD10, CHMP2B, CREBBP, DCTN1, GLE1, GSX2, MATR3, NEFH, NEK1, OPTN, PFN1, PRPH, SETX, SLC1A2, SOD1, SPG11, SQSTM1, TARDBP, TBK1, TREM2, UBQLN2, VAPB, VCP
C1866934	XX	e	Reduced tendon reflexes	14/59	314/4277	6.351542051475551e-05	n.a	14	0.0098591487435761	ATXN2, CHCHD10, FIG4, FUS, GLE1, GRIA3, NEFH, SETX, SIGMAR1, SPG11, SQSTM1, TBK1, VAPB, VCP
C4024582	XX	e	Abnormality of the musculature of the limbs	12/59	236/4277	6.63868053495761e-05	n.a	12	0.0100987608297775	ALS2, CCNF, CHCHD10, DCTN1, HNRNPA1, KIF5A, MATR3, NEFH, SIGMAR1, SPG11, SQSTM1, VCP
C4082299	XX	e	Bulbar palsy	5/59	33/4277	7.426977198892158e-05	n.a	5	0.0110763899166223	CHCHD10, MATR3, SQSTM1, TBK1, TRPM7
C1848736	XX	e	Distal amyotrophy	8/59	106/4277	8.48528844922414e-05	n.a	8	0.0120634092373795	ALS2, ANG, ATXN2, DCTN1, SETX, SIGMAR1, SPG11, VCP
C1850496	XX	e	Neuronal loss in central nervous system	5/59	34/4277	8.616066727542444e-05	n.a	5	0.0120634092373795	ATXN2, CHMP2B, CTSD, FUS, VAPB
C4023181	XX	e	Abnormality of muscle morphology	28/59	1032/4277	8.683315269178134e-05	n.a	28	0.0120634092373795	ALS2, ANG, ATXN2, CCNF, CHCHD10, CREBBP, DCTN1, FIG4, FUS, GLE1, HNRNPA1, HNRNPA2B1, KIF5A, MATR3, NEFH, PFN1, PRPH, SETX, SIGMAR1, SLC1A2, SOD1, SPG11, SQSTM1, TARDBP, TBK1, VAPB, VCP, WNT7A
C0497552	XX	e	Abnormality of the nervous system	52/59	2791/4277	8.723212043858462e-05	n.a	52	0.0120634092373795	ALS2, ANG, ANXA11, ATXN2, CCNF, CFAP410, CHCHD10, CHMP2B, CREBBP, CST3, CTSD, DCTN1, DPP6, ERBB4, FIG4, FUS, GABRA1, GDI1, GFAP, GLE1, GRIA3, GSX2, HNRNPA1, HNRNPA2B1, JAK3, KIF5A, MATR3, NEFH, NEK1, OPTN, PARK7, PFN1, PRPH, SETX, SIGMAR1, SLC1A2, SLC6A1, SOD1, SPG11, SQSTM1, TARDBP, TBK1, TNF, TP53, TREM2, TRPM7, TUBA4A, UBQLN2, VAPB, VCP, WNT7A, XIAP
C4021523	XX	e	Upper limb amyotrophy	4/59	19/4277	0.0001085093260158	n.a	4	0.0147378916727958	ALS2, DCTN1, NEFH, SPG11
C4025779	XX	e	Abnormality of the musculature of the upper limbs	7/59	85/4277	0.0001411356535545	n.a	7	0.018832943525193	ALS2, DCTN1, MATR3, NEFH, SPG11, SQSTM1, VCP
C0151888	XX	e	Hyporeflexia	11/59	219/4277	0.000156431357945	n.a	11	0.0205140846298305	ATXN2, CHCHD10, FIG4, FUS, GRIA3, NEFH, SETX, SIGMAR1, SQSTM1, TBK1, VAPB
C0575081	XX	e	Gait disturbance	19/59	577/4277	0.0001597703208785	n.a	19	0.020596831535626	ALS2, ATXN2, CHCHD10, CHMP2B, CREBBP, DCTN1, ERBB4, FIG4, FUS, GLE1, GSX2, KIF5A, NEFH, SETX, SLC1A2, SPG11, SQSTM1, TREM2, VCP
C0522224	XX	e	Paralysis	6/59	61/4277	0.0001640833036124	n.a	6	0.0208002934545986	DCTN1, NEFH, PRPH, SOD1, TRPM7, UBQLN2
CN002266	XX	e	Impaired vibratory sensation	5/59	42/4277	0.000242088929689	n.a	5	0.0301857114625431	ATXN2, KIF5A, NEFH, SETX, SPG11
C4023354	XX	e	Abnormality of central motor function	29/59	1156/4277	0.0002988904540928	n.a	29	0.0366671095779059	ALS2, ANG, ATXN2, CHCHD10, CHMP2B, CREBBP, CTSD, DCTN1, FIG4, GFAP, GSX2, KIF5A, NEFH, NEK1, PARK7, PFN1, PRPH, SETX, SIGMAR1, SLC1A2, SLC6A1, SOD1, SPG11, SQSTM1, TARDBP, TBK1, TREM2, TRPM7, UBQLN2
C4023352	XX	e	Abnormality of higher mental function	37/59	1682/4277	0.0003849484629972	n.a	37	0.0464748890405912	ALS2, ATXN2, CCNF, CHCHD10, CHMP2B, CREBBP, CST3, CTSD, DCTN1, DPP6, FIG4, GABRA1, GDI1, GLE1, GRIA3, GSX2, HNRNPA2B1, MATR3, NEFH, NEK1, OPTN, PFN1, PRPH, SETX, SLC1A2, SLC6A1, SOD1, SPG11, SQSTM1, TARDBP, TBK1, TREM2, TRPM7, TUBA4A, UBQLN2, VAPB, VCP
C4293692	XX	e	Abnormality of digestive system physiology	28/59	1106/4277	0.0004287577439401	n.a	28	0.0509551781313895	ALS2, ATXN2, CHCHD10, CREBBP, DCTN1, GLE1, GSX2, JAK3, KIF5A, MATR3, NEFH, NEK1, OPTN, PFN1, PLA2G4A, PRPH, SETX, SLC1A2, SOD1, SPG11, SQSTM1, TARDBP, TBK1, TNF, TP53, UBQLN2, VAPB, XIAP
C4022811	XX	e	Abnormality of nervous system physiology	48/59	2555/4277	0.0004504506957535	n.a	48	0.0521409467155664	ALS2, ANG, ATXN2, CCNF, CFAP410, CHCHD10, CHMP2B, CREBBP, CST3, CTSD, DCTN1, DPP6, ERBB4, FIG4, FUS, GABRA1, GDI1, GFAP, GLE1, GRIA3, GSX2, HNRNPA2B1, KIF5A, MATR3, NEFH, NEK1, OPTN, PARK7, PFN1, PRPH, SETX, SIGMAR1, SLC1A2, SLC6A1, SOD1, SPG11, SQSTM1, TARDBP, TBK1, TNF, TP53, TREM2, TRPM7, TUBA4A, UBQLN2, VAPB, VCP, XIAP
C1527344	XX	e	Dysphonia	4/59	27/4277	0.0004524457642949	n.a	4	0.0521409467155664	DCTN1, NEFH, PRPH, SOD1
C0020580	XX	e	Sensory impairment	9/59	172/4277	0.0004942292682525	n.a	9	0.0561060867810261	ATXN2, CHCHD10, FIG4, KIF5A, MATR3, NEFH, SETX, SPG11, VCP
C0037315	XX	e	Sleep apnea	5/59	49/4277	0.0005040851853847	n.a	5	0.0563834105887759	CREBBP, DCTN1, NEFH, PRPH, SOD1
C0240735	XX	e	Personality changes	4/59	29/4277	0.0005998392126333	n.a	4	0.0661214065404249	ATXN2, CHMP2B, SQSTM1, TBK1
C0242422	XX	e	Parkinsonism	6/59	80/4277	0.0007251142724874	n.a	6	0.0787888450934221	ATXN2, CHCHD10, DCTN1, KIF5A, PARK7, TRPM7
C0234378	XX	e	Postural tremor	4/59	31/4277	0.0007784830219933	n.a	4	0.0833963642997401	ATXN2, FUS, PARK7, VAPB
C0239830	XX	e	Hand muscle atrophy	3/59	14/4277	0.0008148539285803	n.a	3	0.0860802636219691	ALS2, DCTN1, SPG11
C4025830	XX	e	Peripheral axonal degeneration	7/59	114/4277	0.0008619735168285	n.a	7	0.0898105557396952	CTSD, FIG4, GLE1, NEFH, SETX, SPG11, UBQLN2
C3806467	XX	e	Respiratory insufficiency due to muscle weakness	5/59	56/4277	0.0009380363107023	n.a	5	0.096414921340573	ERBB4, GLE1, MATR3, SPG11, TARDBP
C4025347	XX	e	Weakness of muscles of respiration	5/59	59/4277	0.0011912327194854	n.a	5	0.1208068808587515	ERBB4, GLE1, MATR3, SPG11, TARDBP
C1843663	XX	e	Urinary bladder sphincter dysfunction	3/59	16/4277	0.0012292404032669	n.a	3	0.1230210856216926	ATXN2, KIF5A, SPG11
C0728829	XX	e	Pes cavus	8/59	160/4277	0.0014040832894312	n.a	8	0.1386942532391392	ALS2, CHCHD10, KIF5A, NEFH, SETX, SIGMAR1, SPG11, VCP
C4021581	XX	e	Distal upper limb amyotrophy	3/59	17/4277	0.0014780738881275	n.a	3	0.1423067087733905	ALS2, DCTN1, SPG11
C4531101	XX	e	Impairment in personality functioning	9/59	203/4277	0.0016261084205186	n.a	9	0.1546022580808092	ATXN2, CHMP2B, CREBBP, DCTN1, PARK7, SQSTM1, TARDBP, TBK1, TREM2
C0026838	XX	e	Spasticity	16/59	534/4277	0.0021148177001232	n.a	16	0.1966516236365777	ALS2, ANG, ATXN2, CTSD, DCTN1, GFAP, GSX2, KIF5A, NEFH, PFN1, PRPH, SIGMAR1, SLC1A2, SOD1, SPG11, TARDBP
C0235946	XX	e	Cerebral atrophy	12/59	344/4277	0.0021200937599525	n.a	12	0.1966516236365777	ALS2, CHCHD10, CHMP2B, CTSD, GLE1, NEK1, SLC1A2, SPG11, SQSTM1, TBK1, TREM2, VCP
C0003578	XX	e	Apnea	7/59	135/4277	0.0023151960108983	n.a	7	0.203345323895189	CREBBP, CTSD, DCTN1, KIF5A, NEFH, PRPH, SOD1
C4023591	XX	e	Abnormality of circulating enzyme level	8/59	174/4277	0.0023972855116208	n.a	8	0.203345323895189	CHCHD10, HNRNPA1, HNRNPA2B1, MATR3, NEFH, SETX, SQSTM1, VCP
C0241005	XX	e	Elevated serum creatine phosphokinase	8/59	174/4277	0.0023972855116208	n.a	8	0.203345323895189	CHCHD10, HNRNPA1, HNRNPA2B1, MATR3, NEFH, SETX, SQSTM1, VCP
C0234146	XX	e	Areflexia	8/59	174/4277	0.0023972855116208	n.a	8	0.203345323895189	CHCHD10, FIG4, GLE1, SETX, SPG11, SQSTM1, VAPB, VCP
C4022449	XX	e	Abnormal levels of creatine kinase in blood	8/59	174/4277	0.0023972855116208	n.a	8	0.203345323895189	CHCHD10, HNRNPA1, HNRNPA2B1, MATR3, NEFH, SETX, SQSTM1, VCP
C0026847	XX	e	Spinal muscular atrophy	3/59	20/4277	0.0024061371483785	n.a	3	0.203345323895189	CHCHD10, SIGMAR1, VAPB
C0040822	XX	e	Tremor	10/59	260/4277	0.0025682099025033	n.a	10	0.2146571925103318	ATXN2, CHCHD10, DCTN1, FUS, PARK7, SETX, SLC6A1, SPG11, SQSTM1, VAPB
C4024898	XX	e	Atrophy/Degeneration affecting the cerebrum	12/59	353/4277	0.0026380603942824	n.a	12	0.2180987756403516	ALS2, CHCHD10, CHMP2B, CTSD, GLE1, NEK1, SLC1A2, SPG11, SQSTM1, TBK1, TREM2, VCP
C0520823	XX	e	Knee clonus	2/59	6/4277	0.0027083566807232	n.a	2	0.2215028055223726	KIF5A, SPG11
C0238651	XX	e	Ankle clonus	3/59	21/4277	0.0027798047609374	n.a	3	0.2249276065073465	KIF5A, SOD1, SPG11
C0042024	XX	e	Urinary incontinence	5/59	73/4277	0.0030851955513993	n.a	5	0.2470104985678253	ALS2, CHMP2B, KIF5A, SPG11, SQSTM1
C0234133	XX	e	Abnormality of extrapyramidal motor function	7/59	143/4277	0.0032081869001809	n.a	7	0.2541202045695197	ATXN2, CHCHD10, DCTN1, KIF5A, PARK7, SOD1, TRPM7
C4476938	XX	e	Impairment of activities of daily living	5/59	74/4277	0.0032742282471486	n.a	5	0.2541202045695197	ALS2, CHMP2B, KIF5A, SPG11, SQSTM1
C4476943	XX	e	Impaired continence	5/59	74/4277	0.0032742282471486	n.a	5	0.2541202045695197	ALS2, CHMP2B, KIF5A, SPG11, SQSTM1
C0233514	XX	e	Behavioral abnormality	22/59	893/4277	0.0033247156254083	n.a	22	0.2554321923924812	ALS2, ATXN2, CCNF, CFAP410, CHMP2B, CREBBP, DCTN1, DPP6, FIG4, GLE1, GRIA3, HNRNPA2B1, NEFH, PARK7, PRPH, SLC1A2, SOD1, SQSTM1, TARDBP, TBK1, TNF, TREM2
C4025660	XX	e	Abnormality of the ankles	4/59	47/4277	0.0037450837675537	n.a	4	0.283012747934053	FIG4, KIF5A, SOD1, SPG11
C1843369	XX	e	Vertical supranuclear gaze palsy	2/59	7/4277	0.0037581235263396	n.a	2	0.283012747934053	DCTN1, SQSTM1
C4021727	XX	e	EMG: neuropathic changes	3/59	24/4277	0.0041079745952429	n.a	3	0.3004351420328656	ALS2, NEFH, VAPB
C1263857	XX	e	Peripheral axonal neuropathy	5/59	80/4277	0.0045883859929105	n.a	5	0.3317045998385192	CTSD, GLE1, NEFH, SETX, SPG11
C2732838	XX	e	Neoplasm of the skeletal system	3/59	25/4277	0.0046227567161297	n.a	3	0.3317045998385192	SQSTM1, TAF15, TP53
C1836296	XX	e	Lower limb muscle weakness	4/59	50/4277	0.0046894324029562	n.a	4	0.3333441388493919	DCTN1, KIF5A, NEFH, SPG11
C0029463	XX	e	Osteosarcoma	2/59	8/4277	0.0049665026849756	n.a	2	0.3434110856538616	SQSTM1, TP53
C0751466	XX	e	Phonophobia	2/59	8/4277	0.0049665026849756	n.a	2	0.3434110856538616	CREBBP, TNF
C4024936	XX	e	Temporal cortical atrophy	2/59	8/4277	0.0049665026849756	n.a	2	0.3434110856538616	NEK1, VCP
C0271390	XX	e	Gaze-evoked nystagmus	3/59	26/4277	0.005174933129146	n.a	3	0.3486207002659308	ATXN2, SETX, SPG11
C0031117	XX	e	Peripheral neuropathy	11/59	334/4277	0.0051793503983763	n.a	11	0.3486207002659308	ATXN2, CHCHD10, CTSD, FIG4, GLE1, KIF5A, MATR3, NEFH, SETX, SPG11, VCP
C0009024	XX	e	Clonus	4/59	52/4277	0.005401045110739	n.a	4	0.3603539395814145	KIF5A, SETX, SOD1, SPG11
C4025701	XX	e	Abnormality of the cerebral cortex	10/59	292/4277	0.0059214248863475	n.a	10	0.3882617041858549	ALS2, CHCHD10, CHMP2B, FIG4, NEK1, SPG11, SQSTM1, TBK1, TREM2, VCP
C0026837	XX	e	Rigidity	5/59	86/4277	0.0062422396563759	n.a	5	0.4057989301401323	ATXN2, CHMP2B, CTSD, DCTN1, PARK7
C4021243	XX	e	Abnormality of thalamus morphology	2/59	9/4277	0.0063290681613362	n.a	2	0.4079567155518935	GSX2, TREM2
C4025786	XX	e	Abnormality of the musculature of the hand	3/59	29/4277	0.0070629801599485	n.a	3	0.4514372024921744	ALS2, DCTN1, SPG11
C4023515	XX	e	Dialeptic seizures	4/59	57/4277	0.0074884077654501	n.a	4	0.4746402455334482	FIG4, GABRA1, GDI1, SLC6A1
C3843207	XX	e	Sound sensitivity	2/59	10/4277	0.0078414823185927	n.a	2	0.4792879300345875	CREBBP, TNF
C3805715	XX	e	Short stepped shuffling gait	2/59	10/4277	0.0078414823185927	n.a	2	0.4792879300345875	ATXN2, DCTN1
C1836479	XX	e	Saccadic smooth pursuit	2/59	10/4277	0.0078414823185927	n.a	2	0.4792879300345875	ALS2, SETX
C0427063	XX	e	Shoulder girdle muscle weakness	2/59	10/4277	0.0078414823185927	n.a	2	0.4792879300345875	MATR3, VCP
C1837388	XX	e	Abnormal pattern of respiration	7/59	171/4277	0.0085183378471424	n.a	7	0.5101612414595729	CREBBP, CTSD, DCTN1, KIF5A, NEFH, PRPH, SOD1
C4551584	XX	e	Brain atrophy	12/59	392/4277	0.0095268092494544	n.a	12	0.5573916242411586	ALS2, CHCHD10, CHMP2B, CTSD, GLE1, NEK1, SLC1A2, SPG11, SQSTM1, TBK1, TREM2, VCP
C4023182	XX	e	Abnormality of muscle physiology	33/59	1663/4277	0.0099902108056779	n.a	33	0.5800423159388298	ALS2, ANG, ATXN2, CCNF, CHCHD10, CREBBP, CTSD, DCTN1, ERBB4, FIG4, GDI1, GFAP, GLE1, GRIA3, GSX2, HNRNPA1, KIF5A, MATR3, NEFH, OPTN, PFN1, PRPH, SETX, SIGMAR1, SLC1A2, SOD1, SPG11, SQSTM1, TARDBP, TBK1, TRPM7, VAPB, VCP
C0025289	XX	e	Meningitis	3/59	33/4277	0.0101432307583537	n.a	3	0.5844652511215022	JAK3, TBK1, XIAP
C0476403	XX	e	EMG abnormality	4/59	63/4277	0.0106225409836842	n.a	4	0.6029481098649448	ALS2, NEFH, SQSTM1, VAPB
C4020949	XX	e	Abnormal emotion/affect behavior	9/59	272/4277	0.0112678453005603	n.a	9	0.6319097668441936	CHMP2B, CREBBP, DCTN1, FIG4, GRIA3, SLC1A2, SQSTM1, TARDBP, TBK1
C1851792	XX	e	Aplasia/Hypoplasia of the earlobes	2/59	12/4277	0.0112989387708138	n.a	2	0.6319097668441936	CREBBP, FIG4
C4021663	XX	e	Abnormality of muscle fibers	6/59	139/4277	0.0115712181487417	n.a	6	0.642413760871019	HNRNPA1, HNRNPA2B1, MATR3, NEFH, SQSTM1, VCP
C0085606	XX	e	Urinary urgency	3/59	35/4277	0.0119334665706177	n.a	3	0.6476704278106662	ATXN2, KIF5A, SPG11
C0027066	XX	e	Myoclonus	6/59	142/4277	0.0127710991473409	n.a	6	0.6476704278106662	ATXN2, CHMP2B, GRIA3, KIF5A, SLC6A1, TREM2
C0037317	XX	e	Sleep disturbance	6/59	145/4277	0.0140564804600172	n.a	6	0.6559115974165087	ATXN2, CREBBP, DCTN1, NEFH, PRPH, SOD1
C0026826	XX	e	Hypertonia	16/59	632/4277	0.014375943202543	n.a	16	0.666728195113064	ALS2, ANG, ATXN2, CTSD, DCTN1, GFAP, GSX2, KIF5A, NEFH, PFN1, PRPH, SIGMAR1, SLC1A2, SOD1, SPG11, TARDBP
C1136179	XX	e	Hammertoe	3/59	38/4277	0.0149397558416517	n.a	3	0.6858804816287716	CHCHD10, SIGMAR1, VCP
C0266015	XX	e	Abnormality of the digestive system	32/59	1647/4277	0.0149692558441199	n.a	32	0.6858804816287716	ALS2, ATXN2, CFAP410, CHCHD10, CREBBP, DCTN1, FIG4, GLE1, GSX2, HNRNPA1, JAK3, KIF5A, LAT, MATR3, NEFH, NEK1, OPTN, PFN1, PLA2G4A, PRPH, SETX, SLC1A2, SOD1, SPG11, SQSTM1, TARDBP, TBK1, TNF, TP53, UBQLN2, VAPB, XIAP
C1832338	XX	e	Axonal loss	2/59	14/4277	0.0153058806124466	n.a	2	0.6929555234420801	FIG4, UBQLN2
C1842552	XX	e	Limb-girdle muscle atrophy	2/59	14/4277	0.0153058806124466	n.a	2	0.6929555234420801	HNRNPA1, VCP
C4316903	XX	e	Absence seizures	3/59	39/4277	0.0160285267736162	n.a	3	0.7213785481664227	GABRA1, GDI1, SLC6A1
C4023679	XX	e	Abnormality of circulating protein level	9/59	289/4277	0.016315073318868	n.a	9	0.7282518230619109	CHCHD10, HNRNPA1, HNRNPA2B1, MATR3, NEFH, SETX, SQSTM1, VCP, XIAP
C4021223	XX	e	Abnormality of the seventh cranial nerve	5/59	109/4277	0.0164684871899354	n.a	5	0.7282518230619109	CHCHD10, DCTN1, GLE1, SQSTM1, VCP
C0376175	XX	e	Facial palsy	5/59	109/4277	0.0164684871899354	n.a	5	0.7282518230619109	CHCHD10, DCTN1, GLE1, SQSTM1, VCP
C4021745	XX	e	Abnormality of the musculature	36/59	1920/4277	0.0169436429812292	n.a	36	0.7449326503770521	ALS2, ANG, ATXN2, CCNF, CHCHD10, CREBBP, CTSD, DCTN1, ERBB4, FIG4, FUS, GDI1, GFAP, GLE1, GRIA3, GSX2, HNRNPA1, HNRNPA2B1, KIF5A, MATR3, NEFH, OPTN, PFN1, PRPH, SETX, SIGMAR1, SLC1A2, SOD1, SPG11, SQSTM1, TARDBP, TBK1, TRPM7, VAPB, VCP, WNT7A
C4025750	XX	e	Abnormality of the nasopharynx	5/59	110/4277	0.017073881871805	n.a	5	0.7463445144652266	CREBBP, JAK3, MATR3, TP53, XIAP
C0241700	XX	e	Weak voice	2/59	15/4277	0.0175054604760129	n.a	2	0.757754985412891	ATXN2, DCTN1
C4025209	XX	e	Abnormal facial expression	4/59	73/4277	0.0175341674247526	n.a	4	0.757754985412891	ATXN2, CREBBP, DCTN1, GLE1
C4759823	XX	e	CNS infection	3/59	41/4277	0.0183372924566562	n.a	3	0.7791812649459624	JAK3, TBK1, XIAP
C1836393	XX	e	Abnormality of ocular smooth pursuit	3/59	41/4277	0.0183372924566562	n.a	3	0.7791812649459624	ALS2, ATXN2, SETX
C0231687	XX	e	Spastic gait	3/59	42/4277	0.0195575743156756	n.a	3	0.8065872089637376	ALS2, KIF5A, SPG11
C1858729	XX	e	Decreased motor nerve conduction velocity	3/59	42/4277	0.0195575743156756	n.a	3	0.8065872089637376	FIG4, SETX, SIGMAR1
C4025838	XX	e	Abnormality of the pharynx	5/59	114/4277	0.0196438758994634	n.a	5	0.8065872089637376	CREBBP, JAK3, MATR3, TP53, XIAP
C0027497	XX	e	Nausea	2/59	16/4277	0.0198306347720508	n.a	2	0.8065872089637376	TNF, TP53
C0392557	XX	e	Nuclear cataract	2/59	16/4277	0.0198306347720508	n.a	2	0.8065872089637376	CFAP410, VIM
C0233522	XX	e	Inappropriate behavior	2/59	16/4277	0.0198306347720508	n.a	2	0.8065872089637376	CHMP2B, DCTN1
C4021031	XX	e	Abnormal motor nerve conduction velocity	3/59	43/4277	0.0208219275111532	n.a	3	0.8380286978965621	FIG4, SETX, SIGMAR1
C1866772	XX	e	Abnormal nerve conduction velocity	4/59	77/4277	0.0209341904549496	n.a	4	0.8380286978965621	FIG4, MATR3, SETX, SIGMAR1
C1857640	XX	e	Decreased nerve conduction velocity	4/59	77/4277	0.0209341904549496	n.a	4	0.8380286978965621	FIG4, MATR3, SETX, SIGMAR1
C1837407	XX	e	Ankle contracture	2/59	17/4277	0.0222776428899728	n.a	2	0.8871400618907493	FIG4, SPG11
C0151311	XX	e	Cranial nerve paralysis	5/59	118/4277	0.0224576952483518	n.a	5	0.8896522398904375	CHCHD10, DCTN1, GLE1, SQSTM1, VCP
C1261473	XX	e	Sarcoma	4/59	79/4277	0.0227764936494333	n.a	4	0.8976062730445067	EWSR1, SQSTM1, TAF15, TP53
C4025865	XX	e	Abnormality of facial musculature	6/59	162/4277	0.0230924037541182	n.a	6	0.9053650667722838	ALS2, CHCHD10, DCTN1, GLE1, SQSTM1, VCP
C4020690	XX	e	Abnormality of peripheral nerve conduction	4/59	81/4277	0.0247152941101415	n.a	4	0.906217058565196	FIG4, MATR3, SETX, SIGMAR1
C1854510	XX	e	Abnormality of the cranial nerves	5/59	121/4277	0.0247328160377219	n.a	5	0.906217058565196	CHCHD10, DCTN1, GLE1, SQSTM1, VCP
C1314665	XX	e	Elevated alkaline phosphatase	3/59	46/4277	0.0248799306024873	n.a	3	0.906217058565196	HNRNPA1, SQSTM1, VCP
C0234376	XX	e	Action tremor	4/59	82/4277	0.0257212164876582	n.a	4	0.906217058565196	ATXN2, FUS, PARK7, VAPB
C1866141	XX	e	Foot dorsiflexor weakness	3/59	47/4277	0.0263209428863745	n.a	3	0.906217058565196	SIGMAR1, SPG11, SQSTM1
C4022400	XX	e	Abnormality of peripheral nerves	4/59	83/4277	0.0267516491269232	n.a	4	0.906217058565196	FIG4, MATR3, SETX, SIGMAR1
C0427055	XX	e	Weakness of facial musculature	5/59	124/4277	0.0271525207070281	n.a	5	0.906217058565196	CHCHD10, DCTN1, GLE1, SQSTM1, VCP
C0231688	XX	e	Shuffling gait	2/59	19/4277	0.0275225007268682	n.a	2	0.906217058565196	ATXN2, DCTN1
C2673700	XX	e	Brisk reflexes	2/59	19/4277	0.0275225007268682	n.a	2	0.906217058565196	GLE1, PARK7
C0432073	XX	e	Decreased skull ossification	2/59	19/4277	0.0275225007268682	n.a	2	0.906217058565196	FIG4, WNT7A
C1849134	XX	e	Impaired vibration sensation in the lower limbs	2/59	19/4277	0.0275225007268682	n.a	2	0.906217058565196	KIF5A, SPG11
C4073187	XX	e	Abnormality of the peripheral nervous system	6/59	169/4277	0.0277516546105005	n.a	6	0.9098236421011524	ATXN2, CREBBP, FIG4, MATR3, SETX, SIGMAR1
C0750937	XX	e	Limb ataxia	3/59	49/4277	0.0293352571677756	n.a	3	0.9535212222995784	ATXN2, SETX, SQSTM1
C1842587	XX	e	Sensory axonal neuropathy	2/59	20/4277	0.030313207791523	n.a	2	0.97266967837195	CTSD, NEFH
C4023752	XX	e	Abnormality of the diencephalon	2/59	20/4277	0.030313207791523	n.a	2	0.97266967837195	GSX2, TREM2
C4021991	XX	e	Abnormality of the astrocytes	2/59	20/4277	0.030313207791523	n.a	2	0.97266967837195	CHMP2B, TP53
C4476768	XX	e	Abnormal larynx morphology	3/59	50/4277	0.0309083949185423	n.a	3	0.9836370366126904	CREBBP, MATR3, NEK1
C1720037	XX	e	Supranuclear gaze palsy	2/59	21/4277	0.0332114607419029	n.a	2	1.0	DCTN1, SQSTM1
C0009676	XX	e	Confusion	2/59	21/4277	0.0332114607419029	n.a	2	1.0	FIG4, TBK1
C0221629	XX	e	Proximal muscle weakness	5/59	131/4277	0.0333756570561182	n.a	5	1.0	CHCHD10, HNRNPA1, NEFH, VAPB, VCP
C4021993	XX	e	Abnormality of the glial cells	4/59	89/4277	0.0334546063299589	n.a	4	1.0	ATXN2, CHMP2B, TP53, UBQLN2
C3806583	XX	e	Functional abnormality of the bladder	6/59	177/4277	0.0338008528304552	n.a	6	1.0	ALS2, ATXN2, CHMP2B, KIF5A, SPG11, SQSTM1
C4021778	XX	e	Abnormality of the shoulder girdle musculature	3/59	52/4277	0.0341860434850364	n.a	3	1.0	MATR3, SQSTM1, VCP
C3489733	XX	e	Oculomotor apraxia	3/59	52/4277	0.0341860434850364	n.a	3	1.0	ATXN2, SETX, SQSTM1
C4025328	XX	e	Abnormality of alkaline phosphatase activity	3/59	53/4277	0.035890251649219	n.a	3	1.0	HNRNPA1, SQSTM1, VCP
C4025686	XX	e	Abnormality of skull ossification	2/59	22/4277	0.0362138696581817	n.a	2	1.0	FIG4, WNT7A
C1865027	XX	e	Hypoplastic iliac wing	2/59	22/4277	0.0362138696581817	n.a	2	1.0	CREBBP, WNT7A
C0424448	XX	e	Mask-like facies	2/59	22/4277	0.0362138696581817	n.a	2	1.0	ATXN2, DCTN1
C0231531	XX	e	Muscle fibrillation	2/59	22/4277	0.0362138696581817	n.a	2	1.0	CCNF, OPTN
C0003635	XX	e	Apraxia	4/59	92/4277	0.0371441280590188	n.a	4	1.0	ATXN2, SETX, SQSTM1, TREM2
C0270790	XX	e	Tetraparesis	3/59	54/4277	0.0376378118110081	n.a	3	1.0	ALS2, NEK1, SOD1
C4021776	XX	e	Abnormality of the voice	6/59	183/4277	0.0388652017456496	n.a	6	1.0	ATXN2, DCTN1, MATR3, NEFH, PRPH, SOD1
C3150086	XX	e	Aplasia/Hypoplasia of the nipples	2/59	23/4277	0.0393171148914929	n.a	2	1.0	FIG4, WNT7A
C4025699	XX	e	Abnormality of the stomach	4/59	94/4277	0.0397300061572095	n.a	4	1.0	FIG4, NEFH, PLA2G4A, TP53
C0853150	XX	e	Abnormality of peripheral nervous system electrophysiology	4/59	94/4277	0.0397300061572095	n.a	4	1.0	FIG4, MATR3, SETX, SIGMAR1
C1856694	XX	e	Areflexia of lower limbs	2/59	24/4277	0.0425179458276033	n.a	2	1.0	GLE1, SQSTM1
C1260922	XX	e	Functional respiratory abnormality	15/59	659/4277	0.0435717418698146	n.a	15	1.0	CREBBP, CTSD, DCTN1, ERBB4, FIG4, GLE1, KIF5A, MATR3, NEFH, NEK1, PRPH, SOD1, SPG11, TARDBP, TNF
C4025360	XX	e	Functional motor deficit	6/59	189/4277	0.0443955394601478	n.a	6	1.0	CHCHD10, FIG4, GLE1, NEFH, SETX, VCP
C4280754	XX	e	Abnormal tongue physiology	2/59	25/4277	0.0458131796634252	n.a	2	1.0	ALS2, OPTN
C0234379	XX	e	Resting tremor	2/59	25/4277	0.0458131796634252	n.a	2	1.0	ATXN2, PARK7
C1858127	XX	e	Limb-girdle muscle weakness	2/59	25/4277	0.0458131796634252	n.a	2	1.0	MATR3, VCP
C0026848	XX	e	Myopathy	5/59	143/4277	0.0459881603979036	n.a	5	1.0	HNRNPA1, HNRNPA2B1, NEFH, SQSTM1, VCP
C4021792	XX	e	Abnormality of the clavicle	3/59	60/4277	0.0490208627450856	n.a	3	1.0	FIG4, NEK1, WNT7A
C1321329	XX	e	Slow saccadic eye movements	2/59	26/4277	0.0491997002078441	n.a	2	1.0	ALS2, ATXN2
C0233565	XX	e	Bradykinesia	3/59	61/4277	0.0510651600885892	n.a	3	1.0	ATXN2, DCTN1, PARK7
C4021777	XX	e	Abnormality of the larynx	3/59	61/4277	0.0510651600885892	n.a	3	1.0	CREBBP, MATR3, NEK1
C4025899	XX	e	Abnormality of male internal genitalia	2/59	27/4277	0.0526744567010047	n.a	2	1.0	CREBBP, TP53
C4023640	XX	e	Abnormality of the lower urinary tract	9/59	347/4277	0.0527785997033911	n.a	9	1.0	ALS2, ATXN2, CHMP2B, CREBBP, FIG4, KIF5A, SPG11, SQSTM1, WNT7A
C0038220	XX	e	Status epilepticus	3/59	62/4277	0.0531506813243642	n.a	3	1.0	CTSD, FIG4, GABRA1
C0035229	XX	e	Respiratory insufficiency	8/59	277/4277	0.0534416993744807	n.a	8	1.0	CTSD, DCTN1, ERBB4, GLE1, MATR3, NEK1, SPG11, TARDBP
C0149632	XX	e	Abnormality of the bladder	6/59	200/4277	0.0557762509607665	n.a	6	1.0	ALS2, ATXN2, CHMP2B, KIF5A, SPG11, SQSTM1
C1861821	XX	e	Zonular cataract	2/59	28/4277	0.0562344626488065	n.a	2	1.0	CFAP410, VIM
C0034194	XX	e	Pyloric stenosis	2/59	28/4277	0.0562344626488065	n.a	2	1.0	FIG4, NEFH
C1862474	XX	e	Decreased facial expression	3/59	64/4277	0.0574440292317651	n.a	3	1.0	ATXN2, DCTN1, GLE1
C4021781	XX	e	Abnormal nervous system electrophysiology	8/59	289/4277	0.0586985901139916	n.a	8	1.0	CREBBP, FIG4, MATR3, SETX, SIGMAR1, SLC1A2, TBK1, TREM2
C1271100	XX	e	Lower limb spasticity	4/59	107/4277	0.0590040946380397	n.a	4	1.0	ALS2, KIF5A, SOD1, SPG11
C0338474	XX	e	CNS demyelination	2/59	29/4277	0.0598767946846676	n.a	2	1.0	GFAP, TREM2
C4021255	XX	e	Weakness due to upper motor neuron dysfunction	6/59	204/4277	0.0603197157241366	n.a	6	1.0	ALS2, KIF5A, NEK1, SOD1, SPG11, TBK1
C4025727	XX	e	Abnormality of the upper respiratory tract	6/59	204/4277	0.0603197157241366	n.a	6	1.0	CREBBP, JAK3, MATR3, NEK1, TP53, XIAP
C4024993	XX	e	Aplasia/Hypoplasia of the clavicles	2/59	30/4277	0.0635985914413217	n.a	2	1.0	FIG4, WNT7A
C0151313	XX	e	Sensory neuropathy	3/59	67/4277	0.0641843419706881	n.a	3	1.0	CTSD, NEFH, SPG11
C0004158	XX	e	Athetosis	2/59	31/4277	0.0673970524421591	n.a	2	1.0	KIF5A, UBQLN2
C4021808	XX	e	Abnormality of earlobe	2/59	31/4277	0.0673970524421591	n.a	2	1.0	CREBBP, FIG4
C4025326	XX	e	Abnormality of the pylorus	2/59	31/4277	0.0673970524421591	n.a	2	1.0	FIG4, NEFH
C4023183	XX	e	Abnormality of facial soft tissue	6/59	210/4277	0.0675438797958154	n.a	6	1.0	ALS2, CHCHD10, DCTN1, GLE1, SQSTM1, VCP
C4022595	XX	e	Tetraplegia/tetraparesis	3/59	71/4277	0.0737153846677517	n.a	3	1.0	ALS2, NEK1, SOD1
C4520981	XX	e	Abnormality of the basal ganglia	3/59	71/4277	0.0737153846677517	n.a	3	1.0	ATXN2, GSX2, TREM2
C0233794	XX	e	Memory impairment	2/59	33/4277	0.0752130632268781	n.a	2	1.0	CHMP2B, TREM2
C1843700	XX	e	Increased variability in muscle fiber diameter	2/59	33/4277	0.0752130632268781	n.a	2	1.0	NEFH, SQSTM1
C0221373	XX	e	Split hand	2/59	33/4277	0.0752130632268781	n.a	2	1.0	SIGMAR1, WNT7A
C4021743	XX	e	Abnormality of the patella	2/59	33/4277	0.0752130632268781	n.a	2	1.0	CREBBP, WNT7A
C4048270	XX	e	Decreased antibody level in blood	4/59	117/4277	0.0767001121426487	n.a	4	1.0	JAK3, LAT, TP53, XIAP
C1855755	XX	e	Abnormal immunoglobulin level	5/59	166/4277	0.0772440467729827	n.a	5	1.0	JAK3, LAT, SETX, TP53, XIAP
C1849242	XX	e	Abnormality of B cell physiology	5/59	167/4277	0.0788145005204014	n.a	5	1.0	JAK3, LAT, SETX, TP53, XIAP
C0265554	XX	e	Ectrodactyly	2/59	34/4277	0.0792253068135137	n.a	2	1.0	SIGMAR1, WNT7A
C0575059	XX	e	Spastic tetraparesis	2/59	34/4277	0.0792253068135137	n.a	2	1.0	ALS2, SOD1
C0234979	XX	e	Dysdiadochokinesis	2/59	34/4277	0.0792253068135137	n.a	2	1.0	ATXN2, SQSTM1
C0850703	XX	e	Frequent falls	2/59	34/4277	0.0792253068135137	n.a	2	1.0	FIG4, NEFH
C0037772	XX	e	Spastic paraplegia	3/59	74/4277	0.0812567079335034	n.a	3	1.0	ALS2, KIF5A, SPG11
C3553754	XX	e	Absent toe	2/59	35/4277	0.0833036001619225	n.a	2	1.0	FIG4, WNT7A
C4023353	XX	e	Abnormality of coordination	13/59	589/4277	0.0833507622507883	n.a	13	1.0	ATXN2, CHCHD10, CREBBP, CTSD, FIG4, GFAP, KIF5A, NEFH, SETX, SLC6A1, SOD1, SPG11, SQSTM1
C4025722	XX	e	Abnormality of the spinal cord	4/59	122/4277	0.0864531849173402	n.a	4	1.0	ATXN2, CREBBP, SETX, WNT7A
C4023051	XX	e	Abnormality of skeletal muscle fiber size	2/59	36/4277	0.0874454312775946	n.a	2	1.0	NEFH, SQSTM1
C4023998	XX	e	Abnormality of the phalanges of the toes	2/59	36/4277	0.0874454312775946	n.a	2	1.0	CREBBP, WNT7A
C0030486	XX	e	Paraplegia	3/59	77/4277	0.0891212510238913	n.a	3	1.0	ALS2, KIF5A, SPG11
C4025828	XX	e	Abnormality of the scapula	3/59	78/4277	0.0918123670144715	n.a	3	1.0	FIG4, SQSTM1, VCP
C0560046	XX	e	Inability to walk	4/59	125/4277	0.0925851876003698	n.a	4	1.0	ERBB4, GLE1, GSX2, SLC1A2
C4018871	XX	e	Abnormality of the respiratory system	20/59	1042/4277	0.0932063172764557	n.a	20	1.0	CFAP410, CREBBP, CTSD, DCTN1, ERBB4, FIG4, GLE1, JAK3, KIF5A, LAT, MATR3, NEFH, NEK1, PRPH, SOD1, SPG11, TARDBP, TNF, TP53, XIAP
C0019158	XX	e	Hepatitis	2/59	38/4277	0.0959099309511868	n.a	2	1.0	TP53, XIAP
C4021228	XX	e	Gonadal neoplasm	2/59	38/4277	0.0959099309511868	n.a	2	1.0	CREBBP, TP53
CN008252	XX	e	Aplasia of the fingers	2/59	38/4277	0.0959099309511868	n.a	2	1.0	FIG4, WNT7A
C0311394	XX	e	Difficulty walking	3/59	80/4277	0.097296053180411	n.a	3	1.0	CHCHD10, GLE1, SETX
C0038273	XX	e	Stereotypy	3/59	82/4277	0.1029116615079983	n.a	3	1.0	CHMP2B, CREBBP, TARDBP
C1861218	XX	e	Hypoplastic ilia	2/59	40/4277	0.1045997846348911	n.a	2	1.0	CREBBP, WNT7A
C4021981	XX	e	Abnormality of the humeroradial joint	2/59	40/4277	0.1045997846348911	n.a	2	1.0	CREBBP, WNT7A
C4531142	XX	e	Abnormal lymphocyte physiology	5/59	183/4277	0.106269407268007	n.a	5	1.0	JAK3, LAT, SETX, TP53, XIAP
C0240953	XX	e	Scapular winging	2/59	41/4277	0.109023502182341	n.a	2	1.0	SQSTM1, VCP
C0920299	XX	e	Overlapping toe	2/59	42/4277	0.1134967985761119	n.a	2	1.0	CREBBP, SOD1
C0424731	XX	e	Single transverse palmar crease	3/59	86/4277	0.1145222302626504	n.a	3	1.0	CREBBP, FIG4, GLE1
C0265660	XX	e	Toe syndactyly	3/59	87/4277	0.1175008605909104	n.a	3	1.0	CREBBP, FIG4, WNT7A
C0149727	XX	e	Abnormality of the lymph nodes	3/59	87/4277	0.1175008605909104	n.a	3	1.0	JAK3, LAT, XIAP
C0020305	XX	e	Hydrops fetalis	2/59	43/4277	0.1180175239937607	n.a	2	1.0	FIG4, NEK1
C0035304	XX	e	Retinal degeneration	4/59	138/4277	0.1214632844607831	n.a	4	1.0	CFAP410, CST3, CTSD, SPG11
C0030232	XX	e	Pallor	2/59	44/4277	0.1225835766571954	n.a	2	1.0	ALS2, KIF5A
C1859523	XX	e	Contractures of the joints of the lower limbs	3/59	89/4277	0.1235456050182842	n.a	3	1.0	ALS2, FIG4, SPG11
C4023156	XX	e	Abnormality of the wing of the ilium	2/59	45/4277	0.1271929019515547	n.a	2	1.0	CREBBP, WNT7A
C0080178	XX	e	Spina bifida	2/59	45/4277	0.1271929019515547	n.a	2	1.0	CREBBP, WNT7A
C1851310	XX	e	Aplasia/hypoplasia of the femur	2/59	47/4277	0.1365333826080494	n.a	2	1.0	CFAP410, WNT7A
C0009812	XX	e	Constitutional symptom	8/59	341/4277	0.1384505754746253	n.a	8	1.0	ALS2, CHMP2B, DPP6, KIF5A, SPG11, SQSTM1, TREM2, VCP
C2674738	XX	e	Abnormality of toe	8/59	341/4277	0.1384505754746253	n.a	8	1.0	CHCHD10, CREBBP, FIG4, NEK1, SIGMAR1, SOD1, VCP, WNT7A
C0520966	XX	e	Incoordination	3/59	97/4277	0.1488123120600921	n.a	3	1.0	CREBBP, FIG4, NEFH
C0581381	XX	e	Recurrent upper respiratory tract infections	3/59	97/4277	0.1488123120600921	n.a	3	1.0	CREBBP, JAK3, XIAP
C4024597	XX	e	Aplasia/Hypoplasia involving the pelvis	2/59	51/4277	0.1556482481629353	n.a	2	1.0	CFAP410, WNT7A
CN218435	XX	e	Spinal dysraphism	2/59	52/4277	0.1605067363520781	n.a	2	1.0	CREBBP, WNT7A
C4023186	XX	e	Neoplasm by histology	4/59	154/4277	0.1616517751023775	n.a	4	1.0	EWSR1, SQSTM1, TAF15, TP53
C4023792	XX	e	Paraplegia/paraparesis	3/59	101/4277	0.1620377523317524	n.a	3	1.0	ALS2, KIF5A, SPG11
C0018524	XX	e	Hallucinations	2/59	53/4277	0.1653936573203863	n.a	2	1.0	ATXN2, FIG4
C4531030	XX	e	Abnormal neural tube morphology	2/59	53/4277	0.1653936573203863	n.a	2	1.0	CREBBP, WNT7A
C0013384	XX	e	Dyskinesia	2/59	53/4277	0.1653936573203863	n.a	2	1.0	CHMP2B, PARK7
C0027794	XX	e	Neural tube defect	2/59	53/4277	0.1653936573203863	n.a	2	1.0	CREBBP, WNT7A
C0221199	XX	e	Abnormality of the palmar creases	3/59	102/4277	0.1653999215944378	n.a	3	1.0	CREBBP, FIG4, GLE1
C0270612	XX	e	Leukoencephalopathy	3/59	102/4277	0.1653999215944378	n.a	3	1.0	KIF5A, SPG11, TREM2
C4021773	XX	e	Abnormality of the hallux	3/59	103/4277	0.1687833349368373	n.a	3	1.0	CREBBP, FIG4, NEK1
C0234649	XX	e	Abnormality of saccadic eye movements	2/59	54/4277	0.1703073436846007	n.a	2	1.0	ALS2, ATXN2
C0019555	XX	e	Hip dysplasia	2/59	55/4277	0.1752461671958244	n.a	2	1.0	CREBBP, GLE1
C4025810	XX	e	Abnormal palmar dermatoglyphics	3/59	106/4277	0.1790556681565837	n.a	3	1.0	CREBBP, FIG4, GLE1
C0234533	XX	e	Generalized seizures	3/59	107/4277	0.1825186943169603	n.a	3	1.0	GABRA1, GDI1, SLC6A1
C3150510	XX	e	Abnormality of humoral immunity	5/59	188/4277	0.1849245013352599	n.a	5	1.0	JAK3, LAT, SETX, TP53, XIAP
C4025844	XX	e	Chorioretinal abnormality	2/59	57/4277	0.1851929039453624	n.a	2	1.0	CREBBP, DPP6
C1145670	XX	e	Respiratory failure	2/59	57/4277	0.1851929039453624	n.a	2	1.0	CTSD, GLE1
C0432333	XX	e	Abnormal dermatoglyphics	3/59	109/4277	0.1894999297027858	n.a	3	1.0	CREBBP, FIG4, GLE1
C0431904	XX	e	Postaxial hand polydactyly	2/59	58/4277	0.1901977498255461	n.a	2	1.0	NEK1, WNT7A
C0021051	XX	e	Immunodeficiency	3/59	112/4277	0.2001018390415772	n.a	3	1.0	JAK3, LAT, XIAP
C0085271	XX	e	Self-injurious behavior	2/59	61/4277	0.2053205552922681	n.a	2	1.0	CREBBP, GRIA3
C0024437	XX	e	Macular degeneration	2/59	62/4277	0.210392884426416	n.a	2	1.0	CST3, SPG11
CN001193	XX	e	Pachygyria	2/59	63/4277	0.2154786482315189	n.a	2	1.0	FIG4, NEK1
C4020755	XX	e	Abnormality of fontanelles	3/59	117/4277	0.2180838554258184	n.a	3	1.0	CREBBP, CTSD, FIG4
C0017639	XX	e	Gliosis	2/59	64/4277	0.2205765391661743	n.a	2	1.0	ATXN2, UBQLN2
C5397581	XX	e	Increased antibody level in blood	2/59	64/4277	0.2205765391661743	n.a	2	1.0	SETX, XIAP
C4024992	XX	e	Aplasia/Hypoplasia involving bones of the thorax	3/59	119/4277	0.2253739958556275	n.a	3	1.0	FIG4, NEK1, WNT7A
C4476974	XX	e	Abnormal uterus morphology	2/59	65/4277	0.2256852820318947	n.a	2	1.0	CREBBP, TP53
C1837397	XX	e	Severe global developmental delay	2/59	65/4277	0.2256852820318947	n.a	2	1.0	FIG4, GSX2
C4025790	XX	e	Specific learning disability	2/59	66/4277	0.2308036333523786	n.a	2	1.0	CHMP2B, SPG11
C1862136	XX	e	Abnormality of the tarsal bones	2/59	67/4277	0.2359303807824062	n.a	2	1.0	GLE1, WNT7A
C0854723	XX	e	Retinal dystrophy	5/59	228/4277	0.242938051943466	n.a	5	1.0	ATXN2, CFAP410, CREBBP, CTSD, NEK1
C4025895	XX	e	Abnormality of the scrotum	2/59	69/4277	0.2462043665669244	n.a	2	1.0	CREBBP, WNT7A
C0751495	XX	e	Focal seizures	2/59	69/4277	0.2462043665669244	n.a	2	1.0	FIG4, GABRA1
C4022516	XX	e	Lower extremity joint dislocation	3/59	125/4277	0.2475263574880982	n.a	3	1.0	CREBBP, FIG4, WNT7A
C0679347	XX	e	Genital neoplasm	2/59	70/4277	0.2513493304905212	n.a	2	1.0	CREBBP, TP53
C3551148	XX	e	Aplasia/Hypoplasia of toe	2/59	72/4277	0.2616497311240071	n.a	2	1.0	FIG4, WNT7A
C4025836	XX	e	Abnormality of the choroid	2/59	72/4277	0.2616497311240071	n.a	2	1.0	CREBBP, DPP6
C0023418	XX	e	Leukemia	2/59	72/4277	0.2616497311240071	n.a	2	1.0	CREBBP, TP53
C4021746	XX	e	Abnormality of the ilium	2/59	74/4277	0.2719571299591513	n.a	2	1.0	CREBBP, WNT7A
C4024996	XX	e	Aplasia/Hypoplasia of the lungs	2/59	76/4277	0.2822635469907735	n.a	2	1.0	GLE1, NEK1
C0265783	XX	e	Pulmonary hypoplasia	2/59	76/4277	0.2822635469907735	n.a	2	1.0	GLE1, NEK1
C3163798	XX	e	Recurrent lower respiratory tract infections	2/59	77/4277	0.2874140082152458	n.a	2	1.0	CFAP410, JAK3
C4025648	XX	e	Abnormal peripheral myelination	2/59	77/4277	0.2874140082152458	n.a	2	1.0	FIG4, SPG11
C1398312	XX	e	Narrow palate	2/59	78/4277	0.2925614198253717	n.a	2	1.0	CREBBP, WNT7A
C4025714	XX	e	Abnormality of the autonomic nervous system	2/59	78/4277	0.2925614198253717	n.a	2	1.0	ATXN2, CREBBP
C0497156	XX	e	Lymphadenopathy	2/59	78/4277	0.2925614198253717	n.a	2	1.0	LAT, XIAP
C1969879	XX	e	Limb joint contracture	4/59	169/4277	0.2943458138791617	n.a	4	1.0	ALS2, FIG4, SPG11, WNT7A
C2939416	XX	e	Pectus carinatum	2/59	79/4277	0.2977048991135418	n.a	2	1.0	NEK1, WNT7A
C0426970	XX	e	Spastic tetraplegia	2/59	80/4277	0.3028435874696578	n.a	2	1.0	ALS2, GSX2
C0158733	XX	e	Hand polydactyly	2/59	80/4277	0.3028435874696578	n.a	2	1.0	NEK1, WNT7A
C4020847	XX	e	Abnormality of pelvic girdle bone morphology	6/59	303/4277	0.3081417332008996	n.a	6	1.0	CFAP410, CREBBP, FIG4, GLE1, VCP, WNT7A
C4024963	XX	e	Abnormal aggressive, impulsive or violent behavior	4/59	178/4277	0.3095648708351504	n.a	4	1.0	CHMP2B, CREBBP, FIG4, GRIA3
C4316788	XX	e	Abnormality of the intestine	6/59	308/4277	0.3156364528864109	n.a	6	1.0	CREBBP, JAK3, NEK1, PLA2G4A, TP53, XIAP
C0007758	XX	e	Cerebellar ataxia	10/59	531/4277	0.3164590795722426	n.a	10	1.0	ATXN2, CHCHD10, CTSD, GFAP, KIF5A, SETX, SLC6A1, SOD1, SPG11, SQSTM1
C0018681	XX	e	Headache	2/59	83/4277	0.3182226724709201	n.a	2	1.0	TNF, TP53
C0011581	XX	e	Depressivity	2/59	85/4277	0.3284367417958629	n.a	2	1.0	ATXN2, DCTN1
C0023380	XX	e	Lethargy	2/59	85/4277	0.3284367417958629	n.a	2	1.0	SLC1A2, TBK1
C0266463	XX	e	Lissencephaly	2/59	88/4277	0.3436851712968778	n.a	2	1.0	FIG4, NEK1
C1390474	XX	e	Increased susceptibility to fractures	2/59	88/4277	0.3436851712968778	n.a	2	1.0	SQSTM1, TREM2
C0151611	XX	e	EEG abnormality	4/59	198/4277	0.3506947567498725	n.a	4	1.0	CREBBP, SLC1A2, TBK1, TREM2
C4018849	XX	e	Abnormal fear/anxiety-related behavior	2/59	91/4277	0.3588301298484647	n.a	2	1.0	CREBBP, PARK7
C0543888	XX	e	Epileptic encephalopathy	2/59	92/4277	0.3638525014340498	n.a	2	1.0	GABRA1, SLC1A2
C1844704	XX	e	Platyspondyly	2/59	93/4277	0.3688609071536425	n.a	2	1.0	CFAP410, NEK1
C0332878	XX	e	Congenital contracture	2/59	94/4277	0.3738547792708892	n.a	2	1.0	FIG4, GLE1
C0002878	XX	e	Hemolytic anemia	2/59	95/4277	0.3788335678081023	n.a	2	1.0	GSR, LAT
C0878659	XX	e	Disproportionate short stature	2/59	95/4277	0.3788335678081023	n.a	2	1.0	CFAP410, WNT7A
C4021112	XX	e	Anemia due to reduced life span of red cells	2/59	95/4277	0.3788335678081023	n.a	2	1.0	GSR, LAT
C4293691	XX	e	Abnormality of digestive system morphology	8/59	435/4277	0.3826181796095437	n.a	8	1.0	CREBBP, FIG4, JAK3, NEFH, NEK1, PLA2G4A, TP53, XIAP
C4021073	XX	e	Morphological abnormality of the gastrointestinal tract	8/59	435/4277	0.3826181796095437	n.a	8	1.0	CREBBP, FIG4, JAK3, NEFH, NEK1, PLA2G4A, TP53, XIAP
C4021349	XX	e	Duplication of phalanx of hand	2/59	96/4277	0.3837967401596537	n.a	2	1.0	NEK1, WNT7A
C3276746	XX	e	Duplication of hand bones	2/59	97/4277	0.3887437807518494	n.a	2	1.0	NEK1, WNT7A
C0032285	XX	e	Pneumonia	2/59	97/4277	0.3887437807518494	n.a	2	1.0	CFAP410, JAK3
C4024574	XX	e	Duplication of bones involving the upper extremities	2/59	97/4277	0.3887437807518494	n.a	2	1.0	NEK1, WNT7A
C0456132	XX	e	Large fontanelles	2/59	98/4277	0.3936741906661903	n.a	2	1.0	CREBBP, FIG4
C0580550	XX	e	Abnormal lymphocyte count	2/59	98/4277	0.3936741906661903	n.a	2	1.0	JAK3, XIAP
C1859077	XX	e	Aplasia/Hypoplasia of the nails	2/59	98/4277	0.3936741906661903	n.a	2	1.0	FIG4, WNT7A
C1837482	XX	e	Thoracic hypoplasia	2/59	99/4277	0.3985874873109358	n.a	2	1.0	CFAP410, NEK1
C0085636	XX	e	Photophobia	2/59	99/4277	0.3985874873109358	n.a	2	1.0	CFAP410, TNF
C4025751	XX	e	Abnormality of the pancreas	2/59	100/4277	0.4034832040697601	n.a	2	1.0	NEK1, TP53
C0016506	XX	e	Abnormality of the foot	14/59	831/4277	0.4073621193589988	n.a	14	1.0	ALS2, CHCHD10, CREBBP, FIG4, GLE1, KIF5A, NEFH, NEK1, SETX, SIGMAR1, SOD1, SPG11, VCP, WNT7A
C0035300	XX	e	Abnormal retinal morphology	9/59	496/4277	0.4090849078747858	n.a	9	1.0	ATXN2, CFAP410, CREBBP, CST3, CTSD, DPP6, NEK1, SPG11, TP53
CN214331	XX	e	Limb undergrowth	3/59	134/4277	0.4322667943879118	n.a	3	1.0	CFAP410, NEK1, WNT7A
C0234428	XX	e	Reduced consciousness/confusion	3/59	136/4277	0.4355896936214465	n.a	3	1.0	FIG4, SLC1A2, TBK1
C4025650	XX	e	Abnormality of lipid metabolism	3/59	139/4277	0.4408287612631005	n.a	3	1.0	LDLR, PLA2G4A, XIAP
C0541764	XX	e	Delayed skeletal maturation	3/59	141/4277	0.4444817156834897	n.a	3	1.0	CREBBP, DPP6, TP53
C0001807	XX	e	Aggressive behavior	3/59	142/4277	0.4463538656604702	n.a	3	1.0	CHMP2B, FIG4, GRIA3
C4551714	XX	e	Rod-cone dystrophy	3/59	142/4277	0.4463538656604702	n.a	3	1.0	ATXN2, CFAP410, CTSD
C4020971	XX	e	Abnormality of lower limb joint	6/59	334/4277	0.4609632942167442	n.a	6	1.0	CREBBP, FIG4, KIF5A, SOD1, SPG11, WNT7A
C4020961	XX	e	Displacement of the external urethral meatus	3/59	152/4277	0.4665688585600577	n.a	3	1.0	CREBBP, FIG4, WNT7A
C0012691	XX	e	Joint dislocation	3/59	156/4277	0.4753145539317533	n.a	3	1.0	CREBBP, FIG4, WNT7A
C0878638	XX	e	Abnormality of the tongue	3/59	158/4277	0.4798070611009829	n.a	3	1.0	ALS2, NEK1, OPTN
C4021750	XX	e	Abnormality of femur morphology	3/59	164/4277	0.4937029878366618	n.a	3	1.0	CFAP410, CREBBP, WNT7A
C4073159	XX	e	Abnormality of the skin of the palm	3/59	165/4277	0.4960737103365884	n.a	3	1.0	CREBBP, FIG4, GLE1
C4025826	XX	e	Abnormality of the urethra	3/59	169/4277	0.505692083921099	n.a	3	1.0	CREBBP, FIG4, WNT7A
C4021789	XX	e	Abnormality of the vertebral column	13/59	810/4277	0.5062313549551183	n.a	13	1.0	ALS2, CFAP410, CREBBP, DPP6, GLE1, KIF5A, NEK1, SETX, SLC1A2, SLC6A1, SPG11, VCP, WNT7A
C4025818	XX	e	Abnormality of skeletal maturation	3/59	171/4277	0.5105749673332478	n.a	3	1.0	CREBBP, DPP6, TP53
C4021026	XX	e	Abnormal tendon morphology	8/59	461/4277	0.5225662066112939	n.a	8	1.0	ALS2, CREBBP, FIG4, GLE1, LDLR, SLC1A2, SPG11, WNT7A
C4022597	XX	e	Abnormality of central nervous system electrophysiology	4/59	212/4277	0.536199692131953	n.a	4	1.0	CREBBP, SLC1A2, TBK1, TREM2
C4021797	XX	e	Abnormality of the thorax	8/59	489/4277	0.5393994880703541	n.a	8	1.0	CFAP410, CREBBP, FIG4, GLE1, NEK1, SQSTM1, VCP, WNT7A
C1096086	XX	e	Abnormality of the lower limb	16/59	1024/4277	0.5415019991853243	n.a	16	1.0	ALS2, CFAP410, CHCHD10, CREBBP, FIG4, GLE1, KIF5A, NEFH, NEK1, SETX, SIGMAR1, SOD1, SPG11, SQSTM1, VCP, WNT7A
C0036439	XX	e	Scoliosis	9/59	550/4277	0.5565739533432233	n.a	9	1.0	ALS2, CREBBP, DPP6, GLE1, KIF5A, SETX, SLC1A2, SLC6A1, SPG11
C4025037	XX	e	Aplasia/hypoplasia involving bones of the lower limbs	4/59	232/4277	0.5602994895996039	n.a	4	1.0	CFAP410, FIG4, NEK1, WNT7A
C4023747	XX	e	Abnormality of the curvature of the vertebral column	10/59	615/4277	0.5740791740783859	n.a	10	1.0	ALS2, CREBBP, DPP6, GLE1, KIF5A, SETX, SLC1A2, SLC6A1, SPG11, VCP
C4023595	XX	e	Abnormality of cell physiology	5/59	312/4277	0.6169225261860658	n.a	5	1.0	JAK3, LAT, SETX, TP53, XIAP
C1861324	XX	e	Short philtrum	2/59	102/4277	0.6515795380255971	n.a	2	1.0	CREBBP, FIG4
C3839073	XX	e	Abnormal nipple morphology	2/59	104/4277	0.6545508500722487	n.a	2	1.0	FIG4, WNT7A
C0220697	XX	e	Postaxial polydactyly	2/59	105/4277	0.6560767446028042	n.a	2	1.0	NEK1, WNT7A
C0042065	XX	e	Neoplasm of the genitourinary tract	2/59	107/4277	0.6592039685318102	n.a	2	1.0	CREBBP, TP53
C4025665	XX	e	Aplasia/Hypoplasia involving the central nervous system	18/59	1187/4277	0.6608711129597356	n.a	18	1.0	ALS2, CHCHD10, CHMP2B, CREBBP, CTSD, DPP6, FIG4, GLE1, GSX2, KIF5A, NEK1, SLC1A2, SPG11, SQSTM1, TBK1, TP53, TREM2, VCP
C0333068	XX	e	Flexion contracture	7/59	441/4277	0.6651277759616284	n.a	7	1.0	ALS2, CREBBP, FIG4, GLE1, SLC1A2, SPG11, WNT7A
C0010038	XX	e	Corneal opacity	2/59	111/4277	0.6657332991533209	n.a	2	1.0	FIG4, LDLR
C4025675	XX	e	Abnormality of the radius	2/59	111/4277	0.6657332991533209	n.a	2	1.0	CREBBP, WNT7A
C0234162	XX	e	Dysmetria	2/59	111/4277	0.6657332991533209	n.a	2	1.0	ATXN2, SQSTM1
C0575158	XX	e	Kyphoscoliosis	2/59	112/4277	0.6674175500675328	n.a	2	1.0	SLC1A2, SPG11
C0221277	XX	e	Abnormality of lymphocytes	2/59	112/4277	0.6674175500675328	n.a	2	1.0	JAK3, XIAP
C0751837	XX	e	Gait ataxia	2/59	113/4277	0.6691208159613684	n.a	2	1.0	SETX, SQSTM1
C0019554	XX	e	Hip dislocation	2/59	114/4277	0.6708422551872092	n.a	2	1.0	FIG4, WNT7A
C4025622	XX	e	Abnormality of the femoral neck or head region	2/59	116/4277	0.6743363824385236	n.a	2	1.0	CFAP410, CREBBP
C0020490	XX	e	Hypermetropia	2/59	117/4277	0.6761074814723651	n.a	2	1.0	CREBBP, NEK1
C4022452	XX	e	Abnormality of forearm bone	2/59	118/4277	0.6778935751508037	n.a	2	1.0	CREBBP, WNT7A
C0008489	XX	e	Chorea	2/59	120/4277	0.6815077661787917	n.a	2	1.0	KIF5A, SETX
C4025666	XX	e	Abnormality of the forearm	2/59	121/4277	0.6833344165684051	n.a	2	1.0	CREBBP, WNT7A
C0221356	XX	e	Brachycephaly	2/59	124/4277	0.6888842578164913	n.a	2	1.0	GRIA3, NEK1
C0016202	XX	e	Pes planus	2/59	125/4277	0.6907552827518424	n.a	2	1.0	CHCHD10, CREBBP
C4520679	XX	e	Abnormal macular morphology	2/59	126/4277	0.692635776634414	n.a	2	1.0	CST3, SPG11
C4025715	XX	e	Abnormality of the large intestine	2/59	127/4277	0.6945251205293683	n.a	2	1.0	TP53, XIAP
C0020224	XX	e	Polyhydramnios	2/59	128/4277	0.6964227104294711	n.a	2	1.0	CREBBP, FIG4
C1836440	XX	e	Increased serum lactate	2/59	129/4277	0.6983279569980564	n.a	2	1.0	CHCHD10, SOD1
C1836830	XX	e	Developmental regression	2/59	130/4277	0.7002402852909684	n.a	2	1.0	GFAP, SLC1A2
C0036857	XX	e	Intellectual disability, severe	2/59	130/4277	0.7002402852909684	n.a	2	1.0	CTSD, GRIA3
C0423224	XX	e	Deeply set eye	2/59	133/4277	0.7060142209661715	n.a	2	1.0	CREBBP, GRIA3
CN210031	XX	e	Short long bone	2/59	137/4277	0.7137794707782604	n.a	2	1.0	NEK1, WNT7A
C0015300	XX	e	Proptosis	2/59	138/4277	0.7157293916533198	n.a	2	1.0	CREBBP, FIG4
C1848670	XX	e	Aplasia/Hypoplasia of the phalanges of the hand	2/59	139/4277	0.7176818229237049	n.a	2	1.0	FIG4, WNT7A
C1837260	XX	e	Prominent forehead	2/59	141/4277	0.7215924460311669	n.a	2	1.0	CREBBP, GLE1
C1842083	XX	e	Abnormality of the ribs	3/59	182/4277	0.7389370922533565	n.a	3	1.0	CFAP410, NEK1, WNT7A
C4025900	XX	e	Abnormality of female internal genitalia	3/59	183/4277	0.7397264148719137	n.a	3	1.0	CREBBP, TP53, WNT7A
C4531292	XX	e	Abnormal breast morphology	3/59	184/4277	0.7405298275944004	n.a	3	1.0	FIG4, TP53, WNT7A
C4025829	XX	e	Abnormality of the breast	3/59	185/4277	0.7413470166600249	n.a	3	1.0	FIG4, TP53, WNT7A
C4021678	XX	e	Abnormality of the 5th finger	3/59	189/4277	0.7447473560443439	n.a	3	1.0	CREBBP, NEK1, WNT7A
C0266781	XX	e	Abnormality of the amniotic fluid	3/59	189/4277	0.7447473560443439	n.a	3	1.0	CREBBP, FIG4, GLE1
C1839326	XX	e	Abnormal form of the vertebral bodies	3/59	196/4277	0.7511583483262474	n.a	3	1.0	CFAP410, NEK1, WNT7A
C0030193	XX	e	Pain	3/59	202/4277	0.7570564063790048	n.a	3	1.0	SQSTM1, TREM2, VCP
C4023402	XX	e	Regional abnormality of skin	3/59	204/4277	0.7590941445034783	n.a	3	1.0	CREBBP, FIG4, GLE1
C0085584	XX	e	Encephalopathy	3/59	206/4277	0.7611642653256961	n.a	3	1.0	GABRA1, SLC1A2, XIAP
C1852464	XX	e	Abnormality of the cervical spine	3/59	206/4277	0.7611642653256961	n.a	3	1.0	CREBBP, GLE1, WNT7A
C1854882	XX	e	Absent speech	3/59	208/4277	0.7632647541203407	n.a	3	1.0	GSX2, SLC1A2, SOD1
C1852534	XX	e	Hypoplastic male external genitalia	3/59	209/4277	0.7643257698994962	n.a	3	1.0	FIG4, NEK1, WNT7A
C4025824	XX	e	Abnormal internal genitalia	3/59	212/4277	0.7675490143473651	n.a	3	1.0	CREBBP, TP53, WNT7A
C1860493	XX	e	Abnormality of the sternum	4/59	248/4277	0.7752566505042997	n.a	4	1.0	CREBBP, FIG4, NEK1, WNT7A
C1834129	XX	e	Abnormal vertebral morphology	4/59	249/4277	0.7756777322131485	n.a	4	1.0	CFAP410, GLE1, NEK1, WNT7A
C4021762	XX	e	Abnormality of the cerebrum	19/59	1304/4277	0.7766899985362256	n.a	19	1.0	ALS2, ATXN2, CHCHD10, CHMP2B, CREBBP, CTSD, DPP6, FIG4, GLE1, GSX2, KIF5A, NEK1, SLC1A2, SPG11, SQSTM1, TBK1, TP53, TREM2, VCP
C4020967	XX	e	Abnormality of forebrain morphology	19/59	1310/4277	0.7774748851128934	n.a	19	1.0	ALS2, ATXN2, CHCHD10, CHMP2B, CREBBP, CTSD, DPP6, FIG4, GLE1, GSX2, KIF5A, NEK1, SLC1A2, SPG11, SQSTM1, TBK1, TP53, TREM2, VCP
C4021735	XX	e	Abnormality of the hip bone	4/59	255/4277	0.778428106537836	n.a	4	1.0	CREBBP, FIG4, GLE1, WNT7A
C3806482	XX	e	Recurrent respiratory infections	4/59	269/4277	0.7861897419247098	n.a	4	1.0	CFAP410, CREBBP, JAK3, XIAP
C0740279	XX	e	Cerebellar atrophy	4/59	277/4277	0.7913480317537207	n.a	4	1.0	CTSD, SETX, SOD1, SQSTM1
C4025896	XX	e	Abnormality of the penis	4/59	282/4277	0.7947970748236786	n.a	4	1.0	CREBBP, FIG4, NEK1, WNT7A
C4476724	XX	e	Abnormal cellular phenotype	5/59	320/4277	0.8008070287210132	n.a	5	1.0	JAK3, LAT, SETX, TP53, XIAP
C1857704	XX	e	Abnormal myelination	5/59	324/4277	0.8020155987610904	n.a	5	1.0	FIG4, GFAP, KIF5A, SPG11, TREM2
C0239234	XX	e	Low-set ears	6/59	417/4277	0.8258058591381656	n.a	6	1.0	CREBBP, CTSD, FIG4, GLE1, SOD1, WNT7A
C0027651	XX	e	Neoplasm	7/59	464/4277	0.8319020050763942	n.a	7	1.0	CREBBP, EWSR1, NEK1, SQSTM1, TAF15, TP53, XIAP
C4022992	XX	e	Abnormal respiratory system morphology	9/59	620/4277	0.8521318879947601	n.a	9	1.0	CFAP410, CREBBP, GLE1, JAK3, LAT, MATR3, NEK1, TP53, XIAP
C4020900	XX	e	Abnormality of the upper limb	13/59	925/4277	0.8748294975086123	n.a	13	1.0	ALS2, CREBBP, DCTN1, FIG4, GLE1, MATR3, NEFH, NEK1, SIGMAR1, SPG11, SQSTM1, VCP, WNT7A
C0852413	XX	e	Abnormal muscle tone	20/59	1402/4277	0.8891448471336298	n.a	20	1.0	ALS2, ANG, ATXN2, CREBBP, CTSD, DCTN1, FIG4, GDI1, GFAP, GLE1, GSX2, KIF5A, NEFH, PFN1, PRPH, SIGMAR1, SLC1A2, SOD1, SPG11, TARDBP
C1387925	XX	e	Abnormality of limbs	20/59	1409/4277	0.8894701296890877	n.a	20	1.0	ALS2, CCNF, CFAP410, CHCHD10, CREBBP, DCTN1, FIG4, GLE1, HNRNPA1, KIF5A, MATR3, NEFH, NEK1, SETX, SIGMAR1, SOD1, SPG11, SQSTM1, VCP, WNT7A
C4021085	XX	e	Abnormality of brain morphology	23/59	1666/4277	1.0	n.a	23	1.0	ALS2, ATXN2, CHCHD10, CHMP2B, CREBBP, CST3, CTSD, DPP6, FIG4, GFAP, GLE1, GSX2, KIF5A, NEK1, SETX, SLC1A2, SOD1, SPG11, SQSTM1, TBK1, TP53, TREM2, VCP
C4021386	XX	e	Abnormality of the elbow	2/59	143/4277	1.0	n.a	2	1.0	CREBBP, WNT7A
C0423109	XX	e	Upslanted palpebral fissure	2/59	142/4277	1.0	n.a	2	1.0	CREBBP, FIG4
C4025797	XX	e	Abnormality of prenatal development or birth	5/59	358/4277	1.0	n.a	5	1.0	CREBBP, FIG4, GLE1, NEK1, TP53
C0026633	XX	p	Abnormality of the mouth	7/59	1276/4277	0.0014765143887545	n.a	7	0.1423067087733905	ALS2, CREBBP, FIG4, GLE1, NEK1, OPTN, WNT7A
C4025887	XX	p	Abnormality of the oral cavity	7/59	1242/4277	0.0022522097969765	n.a	7	0.203345323895189	ALS2, CREBBP, FIG4, GLE1, NEK1, OPTN, WNT7A
C4025761	XX	p	Abnormality of the integument	10/59	1503/4277	0.0024009964557866	n.a	10	0.203345323895189	ALS2, CREBBP, FIG4, GLE1, KIF5A, LDLR, SETX, TP53, WNT7A, XIAP
C0157733	XX	p	Abnormality of the hair	2/59	699/4277	0.0038481014586808	n.a	2	0.2862746441939188	CREBBP, FIG4
C4023518	XX	p	Abnormality of skin adnexa morphology	3/59	802/4277	0.003876714219297	n.a	3	0.2862746441939188	CREBBP, FIG4, WNT7A
C0243050	XX	p	Abnormality of the cardiovascular system	11/59	1536/4277	0.0057736061611269	n.a	11	0.3818612909698375	CFAP410, CREBBP, CST3, DPP6, FIG4, JAK3, LAT, LDLR, NEK1, SETX, XIAP
C4022738	XX	p	Neurodevelopmental delay	11/59	1494/4277	0.0084501699228745	n.a	11	0.5100951780427292	ALS2, CREBBP, FIG4, GABRA1, GDI1, GLE1, GSX2, NEK1, SLC1A2, SOD1, TP53
C4025823	XX	p	Abnormality of the endocrine system	2/59	619/4277	0.008834274710589	n.a	2	0.5249491675682838	CREBBP, TP53
C0262361	XX	p	Growth abnormality	12/59	1549/4277	0.0094918357330983	n.a	12	0.5573916242411586	CFAP410, CHCHD10, CREBBP, DCTN1, DPP6, FIG4, GRIA3, JAK3, LAT, SPG11, TP53, WNT7A
C4049796	XX	p	Abnormality of cardiovascular system morphology	5/59	938/4277	0.0103961312752629	n.a	5	0.5945336427041354	CREBBP, FIG4, LDLR, NEK1, XIAP
C2315229	XX	p	Abnormality of facial skeleton	3/59	703/4277	0.0128638250469891	n.a	3	0.6476704278106662	CREBBP, FIG4, GLE1
C0424503	XX	p	Abnormal facial shape	2/59	600/4277	0.013030915350882	n.a	2	0.6476704278106662	CREBBP, WNT7A
C0026827	XX	p	Muscular hypotonia	8/59	1156/4277	0.0177536280035167	n.a	8	0.7629044892358652	ATXN2, CREBBP, FIG4, GDI1, GLE1, KIF5A, SLC1A2, SOD1
C4023641	XX	p	Abnormality of the upper urinary tract	3/59	673/4277	0.0187642670397052	n.a	3	0.7928945283555471	CREBBP, NEK1, TP53
C0235942	XX	p	Abnormality of the skull	12/59	1484/4277	0.0190933533403214	n.a	12	0.8023427928535064	CREBBP, CTSD, DPP6, FIG4, GFAP, GLE1, GRIA3, KIF5A, NEK1, SLC1A2, TP53, WNT7A
C0266292	XX	p	Abnormality of the kidney	3/59	656/4277	0.0272249304990491	n.a	3	0.906217058565196	CREBBP, NEK1, TP53
C0042063	XX	p	Abnormality of the genitourinary system	13/59	1529/4277	0.028292358930979	n.a	13	0.9235694507683548	ALS2, ATXN2, CFAP410, CHMP2B, CREBBP, FIG4, GLE1, KIF5A, NEK1, SPG11, SQSTM1, TP53, WNT7A
C4023528	XX	p	Abnormality of skin morphology	7/59	1020/4277	0.0304358905406947	n.a	7	0.97266967837195	ALS2, CREBBP, FIG4, GLE1, KIF5A, LDLR, SETX
C4025252	XX	p	Abnormal nasal morphology	4/59	744/4277	0.0357374933235626	n.a	4	1.0	CREBBP, CTSD, FIG4, WNT7A
C0037268	XX	p	Abnormality of the skin	9/59	1167/4277	0.0388032187480715	n.a	9	1.0	ALS2, CREBBP, FIG4, GLE1, KIF5A, LDLR, SETX, TP53, XIAP
C2183966	XX	p	Abnormality of the lip	3/59	612/4277	0.038900081415567	n.a	3	1.0	CREBBP, FIG4, NEK1
C4021946	XX	p	Abnormality of globe location	3/59	611/4277	0.038922358292092	n.a	3	1.0	CREBBP, FIG4, GRIA3
C4025867	XX	p	Abnormality of the forehead	3/59	606/4277	0.0391104993618309	n.a	3	1.0	CREBBP, CTSD, GLE1
C1384666	XX	p	Hearing impairment	4/59	705/4277	0.0497468114418973	n.a	4	1.0	CHCHD10, CREBBP, FIG4, SQSTM1
C4025860	XX	p	Hearing abnormality	4/59	709/4277	0.0500351110830789	n.a	4	1.0	CHCHD10, CREBBP, FIG4, SQSTM1
C3714756	XX	p	Intellectual disability	9/59	1121/4277	0.0535659650340736	n.a	9	1.0	CREBBP, CTSD, DPP6, GABRA1, GDI1, GRIA3, SLC1A2, SLC6A1, SPG11
C4280767	XX	p	Abnormal jaw morphology	3/59	576/4277	0.0554295722595445	n.a	3	1.0	CREBBP, FIG4, GLE1
C4022925	XX	p	Abnormal eye morphology	15/59	1595/4277	0.0587659679752638	n.a	15	1.0	ATXN2, CFAP410, CREBBP, CST3, CTSD, DPP6, FIG4, GRIA3, GSR, LDLR, NEK1, SETX, SPG11, TP53, VIM
C4023638	XX	p	Abnormality of the external nose	2/59	475/4277	0.0591516853420887	n.a	2	1.0	CREBBP, FIG4
C0038379	XX	p	Strabismus	2/59	486/4277	0.0597332098982401	n.a	2	1.0	CREBBP, SETX
C0262444	XX	p	Abnormality of the dentition	2/59	493/4277	0.0606180455990096	n.a	2	1.0	CREBBP, FIG4
C4073120	XX	p	Abnormal morphology of the ocular adnexa	6/59	845/4277	0.069376442644534	n.a	6	1.0	CREBBP, FIG4, GLE1, LDLR, SETX, WNT7A
C4025870	XX	p	Abnormality of the mandible	3/59	553/4277	0.0776760496297374	n.a	3	1.0	CREBBP, FIG4, GLE1
C4021803	XX	p	Abnormality of the eyelid	5/59	731/4277	0.0820030872756874	n.a	5	1.0	CREBBP, FIG4, GLE1, LDLR, WNT7A
C4022737	XX	p	Neurodevelopmental abnormality	19/59	1859/4277	0.0861319237341208	n.a	19	1.0	ALS2, CHMP2B, CREBBP, CTSD, DPP6, FIG4, GABRA1, GDI1, GFAP, GLE1, GRIA3, GSX2, KIF5A, NEK1, SLC1A2, SLC6A1, SOD1, SPG11, TP53
C0265736	XX	p	Abnormality of the nose	8/59	996/4277	0.0872317376486782	n.a	8	1.0	CREBBP, CTSD, FIG4, JAK3, MATR3, TP53, WNT7A, XIAP
C4022950	XX	p	Abnormal homeostasis	6/59	819/4277	0.0941657837567426	n.a	6	1.0	CHCHD10, FIG4, GLE1, NEK1, SOD1, XIAP
C2674737	XX	p	Abnormality of finger	4/59	624/4277	0.095155391451849	n.a	4	1.0	CREBBP, FIG4, NEK1, WNT7A
C4025863	XX	p	Abnormality of the orbital region	7/59	875/4277	0.1059373615241951	n.a	7	1.0	CREBBP, FIG4, GLE1, LDLR, PARK7, SETX, WNT7A
C4021805	XX	p	Abnormality of the nasal bridge	3/59	520/4277	0.1081812121313228	n.a	3	1.0	CREBBP, CTSD, WNT7A
C4025884	XX	p	Abnormality of upper lip	3/59	520/4277	0.1081812121313228	n.a	3	1.0	CREBBP, FIG4, NEK1
C4021780	XX	p	Abnormality of the liver	3/59	537/4277	0.1096595622718497	n.a	3	1.0	NEK1, TP53, XIAP
C0029131	XX	p	Abnormality of the optic nerve	2/59	405/4277	0.1198273101094889	n.a	2	1.0	CFAP410, TP53
C4023397	XX	p	Abnormal hair quantity	2/59	421/4277	0.120146819890852	n.a	2	1.0	CREBBP, FIG4
C1858120	XX	p	Generalized hypotonia	7/59	851/4277	0.1396722500102141	n.a	7	1.0	ATXN2, CREBBP, FIG4, GDI1, GLE1, KIF5A, SLC1A2
C0744356	XX	p	Abnormality of the genital system	7/59	863/4277	0.1399402136780448	n.a	7	1.0	CFAP410, CREBBP, FIG4, GLE1, NEK1, TP53, WNT7A
C4316870	XX	p	Abnormality of the eye	23/59	2072/4277	0.1509885795938116	n.a	23	1.0	ALS2, ATXN2, CFAP410, CHCHD10, CREBBP, CST3, CTSD, DCTN1, DPP6, FIG4, GLE1, GRIA3, GSR, KIF5A, LDLR, NEK1, OPTN, SETX, SPG11, SQSTM1, TNF, TP53, VIM
C4021753	XX	p	Abnormality of the immune system	10/59	1070/4277	0.1738626524356196	n.a	10	1.0	CFAP410, CREBBP, HNRNPA2B1, JAK3, LAT, SETX, TBK1, TNF, TP53, XIAP
C4021815	XX	p	Abnormality of the palate	4/59	586/4277	0.178175337724569	n.a	4	1.0	CREBBP, GLE1, NEK1, WNT7A
C4025901	XX	p	Abnormality of body height	7/59	829/4277	0.183185486868978	n.a	7	1.0	CFAP410, CHCHD10, CREBBP, DPP6, GRIA3, TP53, WNT7A
C4024586	XX	p	Abnormal axial skeleton morphology	19/59	1752/4277	0.1841110248413089	n.a	19	1.0	ALS2, CFAP410, CREBBP, CTSD, DPP6, FIG4, GFAP, GLE1, GRIA3, KIF5A, NEK1, SETX, SLC1A2, SLC6A1, SPG11, SQSTM1, TP53, VCP, WNT7A
C4021817	XX	p	Abnormality of head or neck	25/59	2190/4277	0.1905457562791023	n.a	25	1.0	ALS2, ATXN2, CHCHD10, CREBBP, CTSD, DCTN1, DPP6, FIG4, GFAP, GLE1, GRIA3, JAK3, KIF5A, LDLR, MATR3, NEK1, OPTN, PARK7, SETX, SLC1A2, SQSTM1, TP53, VCP, WNT7A, XIAP
C4023587	XX	p	Abnormality of cardiovascular system physiology	5/59	648/4277	0.1986974079241261	n.a	5	1.0	CREBBP, CST3, DPP6, FIG4, NEK1
C4021764	XX	p	Abnormality of the abdominal organs	5/59	628/4277	0.1988302012691247	n.a	5	1.0	CFAP410, LAT, NEK1, TP53, XIAP
C4531031	XX	p	Abnormal liver morphology	3/59	457/4277	0.203347783782621	n.a	3	1.0	NEK1, TP53, XIAP
C4024750	XX	p	Abnormality of the palpebral fissures	3/59	453/4277	0.2034113754973919	n.a	3	1.0	CREBBP, FIG4, GLE1
C0241657	XX	p	Abnormality of the vasculature	9/59	980/4277	0.210743603444201	n.a	9	1.0	CFAP410, CREBBP, CST3, FIG4, JAK3, LAT, LDLR, SETX, XIAP
C4022924	XX	p	Abnormal eye physiology	16/59	1520/4277	0.2173225830722219	n.a	16	1.0	ALS2, ATXN2, CFAP410, CHCHD10, CREBBP, CTSD, DCTN1, DPP6, GLE1, KIF5A, NEK1, OPTN, SETX, SPG11, SQSTM1, TNF
C1857045	XX	p	Abnormality of the philtrum	2/59	352/4277	0.232657179610028	n.a	2	1.0	CREBBP, FIG4
C3808249	XX	p	Abnormality of the optic disc	2/59	343/4277	0.2328109087214548	n.a	2	1.0	CFAP410, TP53
C4025871	XX	p	Abnormality of the face	21/59	1883/4277	0.2344363491186181	n.a	21	1.0	ALS2, ATXN2, CHCHD10, CREBBP, CTSD, DCTN1, FIG4, GLE1, GRIA3, JAK3, LDLR, MATR3, NEK1, OPTN, PARK7, SETX, SQSTM1, TP53, VCP, WNT7A, XIAP
C0850826	XX	p	Localized skin lesion	2/59	363/4277	0.2346802035559226	n.a	2	1.0	CREBBP, LDLR
C4021812	XX	p	Abnormality of the head	25/59	2172/4277	0.2377725424442075	n.a	25	1.0	ALS2, ATXN2, CHCHD10, CREBBP, CTSD, DCTN1, DPP6, FIG4, GFAP, GLE1, GRIA3, JAK3, KIF5A, LDLR, MATR3, NEK1, OPTN, PARK7, SETX, SLC1A2, SQSTM1, TP53, VCP, WNT7A, XIAP
C3550704	XX	p	Abnormality of digit	8/59	850/4277	0.2532378501459884	n.a	8	1.0	CHCHD10, CREBBP, FIG4, NEK1, SIGMAR1, SOD1, VCP, WNT7A
C0497202	XX	p	Abnormality of eye movement	9/59	943/4277	0.2674036723192171	n.a	9	1.0	ALS2, ATXN2, CFAP410, CREBBP, DCTN1, KIF5A, SETX, SPG11, SQSTM1
C0857379	XX	p	Abnormality of the pinna	3/59	425/4277	0.2741871157966078	n.a	3	1.0	CREBBP, FIG4, WNT7A
C4020869	XX	p	Abnormality of abdomen morphology	3/59	427/4277	0.2742727041548811	n.a	3	1.0	CFAP410, LAT, XIAP
C4082761	XX	p	Abnormality of limb bone morphology	10/59	1009/4277	0.2798501539886067	n.a	10	1.0	CFAP410, CHCHD10, CREBBP, FIG4, GLE1, NEK1, SIGMAR1, SOD1, VCP, WNT7A
C4022456	XX	p	Abnormality of limb bone	10/59	1009/4277	0.2798501539886067	n.a	10	1.0	CFAP410, CHCHD10, CREBBP, FIG4, GLE1, NEK1, SIGMAR1, SOD1, VCP, WNT7A
C1846460	XX	p	Abnormality of the outer ear	6/59	689/4277	0.2832250068266539	n.a	6	1.0	CREBBP, CTSD, FIG4, GLE1, SOD1, WNT7A
C4021096	XX	p	Abnormal reproductive system morphology	6/59	694/4277	0.2839401240869557	n.a	6	1.0	CREBBP, FIG4, GLE1, NEK1, TP53, WNT7A
C4024592	XX	p	Aplasia/hypoplasia involving the skeleton	6/59	697/4277	0.2845066656734746	n.a	6	1.0	CFAP410, CREBBP, FIG4, GLE1, NEK1, WNT7A
C4023163	XX	p	Abnormal appendicular skeleton morphology	11/59	1074/4277	0.2914669899700746	n.a	11	1.0	CFAP410, CHCHD10, CREBBP, FIG4, GLE1, NEK1, SIGMAR1, SOD1, SQSTM1, VCP, WNT7A
C4021790	XX	p	Abnormality of the skeletal system	26/59	2195/4277	0.2948076810666123	n.a	26	1.0	ALS2, CFAP410, CHCHD10, CREBBP, CTSD, DPP6, FIG4, GFAP, GLE1, GRIA3, HNRNPA2B1, KIF5A, LDLR, NEK1, SETX, SIGMAR1, SLC1A2, SLC6A1, SOD1, SPG11, SQSTM1, TAF15, TP53, TREM2, VCP, WNT7A
C4023165	XX	p	Abnormality of skeletal morphology	25/59	2107/4277	0.297366690137969	n.a	25	1.0	ALS2, CFAP410, CHCHD10, CREBBP, CTSD, DPP6, FIG4, GFAP, GLE1, GRIA3, KIF5A, LDLR, NEK1, SETX, SIGMAR1, SLC1A2, SLC6A1, SOD1, SPG11, SQSTM1, TAF15, TP53, TREM2, VCP, WNT7A
C4025596	XX	p	Abnormality of connective tissue	7/59	748/4277	0.3025939111590591	n.a	7	1.0	ALS2, CREBBP, FIG4, GLE1, SLC1A2, SPG11, WNT7A
C0349588	XX	p	Short stature	7/59	769/4277	0.303866108151105	n.a	7	1.0	CFAP410, CHCHD10, CREBBP, DPP6, GRIA3, TP53, WNT7A
C1845274	XX	p	Abnormal conjugate eye movement	4/59	503/4277	0.3085228253776372	n.a	4	1.0	CREBBP, DCTN1, SETX, SQSTM1
C0015544	XX	p	Failure to thrive	4/59	511/4277	0.3096237211219619	n.a	4	1.0	CREBBP, FIG4, JAK3, LAT
C4021804	XX	p	Abnormality of the nasal alae	2/59	319/4277	0.319372678370285	n.a	2	1.0	CREBBP, FIG4
C4025035	XX	p	Aplasia/hypoplasia involving bones of the upper limbs	2/59	312/4277	0.3195062021404404	n.a	2	1.0	FIG4, WNT7A
C4021813	XX	p	Oral cleft	2/59	323/4277	0.3198044653452307	n.a	2	1.0	CREBBP, NEK1
C4025357	XX	p	Abnormality of body weight	8/59	818/4277	0.3201921950366133	n.a	8	1.0	CREBBP, DCTN1, DPP6, FIG4, GRIA3, JAK3, LAT, SPG11
C0001118	XX	p	Abnormality of acid-base homeostasis	2/59	326/4277	0.3203649832834901	n.a	2	1.0	CHCHD10, SOD1
C4024902	XX	p	Aplasia/Hypoplasia of the cerebrum	10/59	976/4277	0.3487390378247071	n.a	10	1.0	CREBBP, CTSD, DPP6, FIG4, GLE1, KIF5A, SLC1A2, SPG11, TP53, TREM2
C4025874	XX	p	Abnormality of skull size	10/59	981/4277	0.3489919636248539	n.a	10	1.0	CREBBP, CTSD, DPP6, FIG4, GFAP, GLE1, GRIA3, KIF5A, SLC1A2, TP53
C4021821	XX	p	Abnormality of the urinary system	11/59	1055/4277	0.3610506416775608	n.a	11	1.0	ALS2, ATXN2, CHMP2B, CREBBP, FIG4, KIF5A, NEK1, SPG11, SQSTM1, TP53, WNT7A
C4025355	XX	p	Abnormality of the anterior segment of the globe	6/59	650/4277	0.3611994618240219	n.a	6	1.0	CFAP410, CREBBP, FIG4, GSR, LDLR, VIM
C0025990	XX	p	Micrognathia	3/59	392/4277	0.3652898635066938	n.a	3	1.0	CREBBP, FIG4, GLE1
C4024589	XX	p	Aplasia/Hypoplasia of the mandible	3/59	393/4277	0.365321941978246	n.a	3	1.0	CREBBP, FIG4, GLE1
C4024591	XX	p	Aplasia/Hypoplasia involving bones of the skull	3/59	400/4277	0.3660704061798282	n.a	3	1.0	CREBBP, FIG4, GLE1
C0042782	XX	p	Visceromegaly	3/59	404/4277	0.3669024303115196	n.a	3	1.0	CFAP410, LAT, XIAP
C4551563	XX	p	Microcephaly	8/59	792/4277	0.3997771347460705	n.a	8	1.0	CREBBP, CTSD, DPP6, FIG4, GLE1, KIF5A, SLC1A2, TP53
C0424688	XX	p	Decreased head circumference	8/59	795/4277	0.399822645615735	n.a	8	1.0	CREBBP, CTSD, DPP6, FIG4, GLE1, KIF5A, SLC1A2, TP53
C4025692	XX	p	Abnormality of calvarial morphology	4/59	461/4277	0.401634773007908	n.a	4	1.0	CREBBP, FIG4, GRIA3, NEK1
C0948163	XX	p	Abnormality of the cerebral white matter	5/59	541/4277	0.4309953787342073	n.a	5	1.0	CREBBP, FIG4, SLC1A2, SPG11, TREM2
C4022805	XX	p	Abnormal inflammatory response	5/59	543/4277	0.4311011532141773	n.a	5	1.0	CFAP410, HNRNPA2B1, JAK3, TP53, XIAP
C4022803	XX	p	Increased inflammatory response	5/59	543/4277	0.4311011532141773	n.a	5	1.0	CFAP410, HNRNPA2B1, JAK3, TP53, XIAP
C0454644	XX	p	Delayed speech and language development	5/59	546/4277	0.4313617468734581	n.a	5	1.0	CREBBP, GSX2, NEK1, SLC1A2, SOD1
C4476878	XX	p	Abnormal morphology of the great vessels	2/59	286/4277	0.4335241186932	n.a	2	1.0	CREBBP, FIG4
C4021657	XX	p	Abnormality of bone mineral density	2/59	280/4277	0.4336557493051332	n.a	2	1.0	SQSTM1, TREM2
C4021612	XX	p	Aplasia/hypoplasia involving bones of the hand	2/59	293/4277	0.4344732916498076	n.a	2	1.0	FIG4, WNT7A
C0001122	XX	p	Acidosis	2/59	300/4277	0.4365592582427541	n.a	2	1.0	CHCHD10, SOD1
C4023124	XX	p	Short digit	2/59	302/4277	0.4373562357079543	n.a	2	1.0	FIG4, NEK1
C0008925	XX	p	Cleft palate	2/59	306/4277	0.4392094166660014	n.a	2	1.0	CREBBP, NEK1
C4021983	XX	p	Abnormality of the hard palate	2/59	308/4277	0.4402628677098709	n.a	2	1.0	CREBBP, NEK1
C4011556	XX	p	Abnormal eyebrow morphology	2/59	310/4277	0.4413990348932499	n.a	2	1.0	CREBBP, FIG4
C4023216	XX	p	Abnormality of joint mobility	7/59	692/4277	0.4761504292440683	n.a	7	1.0	ALS2, CREBBP, FIG4, GLE1, SLC1A2, SPG11, WNT7A
C0018816	XX	p	Abnormality of the cardiac septa	3/59	359/4277	0.4804867693594633	n.a	3	1.0	CREBBP, FIG4, NEK1
C4021820	XX	p	Abnormality of reproductive system physiology	3/59	359/4277	0.4804867693594633	n.a	3	1.0	CFAP410, TP53, WNT7A
C2748932	XX	p	Slanting of the palpebral fissure	3/59	363/4277	0.4807384206345398	n.a	3	1.0	CREBBP, FIG4, GLE1
C0240635	XX	p	High palate	3/59	364/4277	0.4808477367746413	n.a	3	1.0	CREBBP, GLE1, WNT7A
C0740651	XX	p	Abdominal symptom	9/59	829/4277	0.5084501041573394	n.a	9	1.0	ATXN2, CREBBP, GLE1, GSX2, JAK3, KIF5A, SLC1A2, TNF, TP53
C0018564	XX	p	Abnormality of the hand	9/59	843/4277	0.5091460731857045	n.a	9	1.0	ALS2, CREBBP, DCTN1, FIG4, GLE1, NEK1, SIGMAR1, SPG11, WNT7A
C4293699	XX	p	Abnormal vascular morphology	4/59	433/4277	0.5160001334704742	n.a	4	1.0	CREBBP, FIG4, LDLR, XIAP
C0232466	XX	p	Feeding difficulties	5/59	496/4277	0.5443176609217432	n.a	5	1.0	CREBBP, GLE1, GSX2, KIF5A, SLC1A2
C0036572	XX	p	Seizures	14/59	1193/4277	0.5595567420798264	n.a	14	1.0	CREBBP, CTSD, FIG4, GABRA1, GDI1, GFAP, GLE1, GRIA3, KIF5A, SLC1A2, SLC6A1, TBK1, TP53, TREM2
C0240083	XX	p	Abnormal joint morphology	6/59	584/4277	0.5667694685068754	n.a	6	1.0	CREBBP, FIG4, KIF5A, SOD1, SPG11, WNT7A
C3279222	XX	p	Aplasia/Hypoplasia of the cerebellum	2/59	250/4277	0.5811921685729666	n.a	2	1.0	FIG4, NEK1
C4551485	XX	p	Clinodactyly	2/59	249/4277	0.5812236949011627	n.a	2	1.0	CREBBP, WNT7A
C0853087	XX	p	Abnormality of the nail	2/59	253/4277	0.5812348468581442	n.a	2	1.0	FIG4, WNT7A
C0423110	XX	p	Downslanted palpebral fissures	2/59	248/4277	0.5812783694880543	n.a	2	1.0	CREBBP, GLE1
C0234632	XX	p	Reduced visual acuity	2/59	257/4277	0.5816057773126135	n.a	2	1.0	CREBBP, DPP6
C4021387	XX	p	Abnormality of upper limb joint	2/59	258/4277	0.581753447059579	n.a	2	1.0	CREBBP, WNT7A
C1840077	XX	p	Anteverted nares	2/59	267/4277	0.5840341877420909	n.a	2	1.0	CREBBP, FIG4
C1844806	XX	p	Decreased body weight	7/59	659/4277	0.5856018770583322	n.a	7	1.0	CREBBP, DCTN1, DPP6, FIG4, GRIA3, JAK3, LAT
C4021637	XX	p	Abnormality of the nares	2/59	275/4277	0.5874248487607301	n.a	2	1.0	CREBBP, FIG4
C4025752	XX	p	Abnormal cardiac ventricle morphology	3/59	324/4277	0.6232761547139934	n.a	3	1.0	CREBBP, FIG4, NEK1
C4551464	XX	p	Aplasia/hypoplasia of the extremities	4/59	419/4277	0.6566533586915295	n.a	4	1.0	CFAP410, FIG4, NEK1, WNT7A
C1854301	XX	p	Motor delay	5/59	472/4277	0.6767792034018825	n.a	5	1.0	ALS2, CREBBP, FIG4, GLE1, NEK1
C0239998	XX	p	Recurrent infections	5/59	467/4277	0.6767844631821278	n.a	5	1.0	CFAP410, CREBBP, JAK3, LAT, XIAP
C1842581	XX	p	Abnormality of the corpus callosum	5/59	463/4277	0.6769760901937045	n.a	5	1.0	CREBBP, FIG4, SLC1A2, SPG11, TREM2
C4024585	XX	p	Aplasia/hypoplasia affecting bones of the axial skeleton	5/59	492/4277	0.6792630350350553	n.a	5	1.0	CREBBP, FIG4, GLE1, NEK1, WNT7A
C4025691	XX	p	Abnormality of the calvaria	6/59	545/4277	0.6950563295633096	n.a	6	1.0	CREBBP, CTSD, FIG4, GRIA3, NEK1, WNT7A
C4023819	XX	p	Abnormality of the male genitalia	6/59	538/4277	0.6951048400839498	n.a	6	1.0	CREBBP, FIG4, GLE1, NEK1, TP53, WNT7A
C4025825	XX	p	Abnormal external genitalia	6/59	548/4277	0.695164717740258	n.a	6	1.0	CREBBP, FIG4, GLE1, NEK1, TP53, WNT7A
C3665347	XX	p	Visual impairment	6/59	564/4277	0.6970116681406304	n.a	6	1.0	CFAP410, CREBBP, CTSD, DPP6, KIF5A, SPG11
C4025846	XX	p	Abnormality of vision	7/59	633/4277	0.7110572410023588	n.a	7	1.0	CFAP410, CREBBP, CTSD, DPP6, KIF5A, SPG11, TNF
C4025804	XX	p	Abnormality of the fundus	9/59	762/4277	0.7325352156260083	n.a	9	1.0	ATXN2, CFAP410, CREBBP, CST3, CTSD, DPP6, NEK1, SPG11, TP53
C4025354	XX	p	Abnormality of the posterior segment of the globe	9/59	766/4277	0.7326237210193689	n.a	9	1.0	ATXN2, CFAP410, CREBBP, CST3, CTSD, DPP6, NEK1, SPG11, TP53
C0850715	XX	p	Abnormality of blood and blood-forming tissues	9/59	776/4277	0.7332440575435997	n.a	9	1.0	CREBBP, CST3, FIG4, GSR, JAK3, LAT, PLA2G4A, TP53, XIAP
C4023616	XX	p	Abnormality of immune system physiology	10/59	845/4277	0.7417390978402191	n.a	10	1.0	CFAP410, CREBBP, HNRNPA2B1, JAK3, LAT, SETX, TBK1, TNF, TP53, XIAP
C4025842	XX	p	Abnormality of the uvea	2/59	218/4277	0.7684572264626583	n.a	2	1.0	CREBBP, DPP6
C0855329	XX	p	Arrhythmia	2/59	218/4277	0.7684572264626583	n.a	2	1.0	CREBBP, DPP6
C0009081	XX	p	Clubfoot	2/59	219/4277	0.7684802026321165	n.a	2	1.0	GLE1, WNT7A
C4759671	XX	p	Deviation of finger	2/59	214/4277	0.7685221829249685	n.a	2	1.0	CREBBP, WNT7A
C1837249	XX	p	Abnormality of neuronal migration	2/59	223/4277	0.7687247929513235	n.a	2	1.0	FIG4, NEK1
C4024685	XX	p	Puberty and gonadal disorders	2/59	226/4277	0.7690645655472255	n.a	2	1.0	CREBBP, TP53
C0018817	XX	p	Atrial septal defect	2/59	226/4277	0.7690645655472255	n.a	2	1.0	CREBBP, NEK1
C0344722	XX	p	Abnormality of the atrial septum	2/59	227/4277	0.7692068286021108	n.a	2	1.0	CREBBP, NEK1
C4024338	XX	p	Deviation of the hand or of fingers of the hand	2/59	229/4277	0.7695339821777634	n.a	2	1.0	CREBBP, WNT7A
C4021664	XX	p	Abnormality of the abdominal wall	2/59	229/4277	0.7695339821777634	n.a	2	1.0	CREBBP, HNRNPA1
C0151583	XX	p	Abnormality of the cerebrospinal fluid	2/59	230/4277	0.769718576504429	n.a	2	1.0	GFAP, TP53
C4083076	XX	p	Increased head circumference	2/59	231/4277	0.769916983959011	n.a	2	1.0	GFAP, GRIA3
C0580531	XX	p	Abnormal leukocyte count	2/59	231/4277	0.769916983959011	n.a	2	1.0	JAK3, XIAP
C4476872	XX	p	Abnormality of cardiovascular system electrophysiology	2/59	233/4277	0.7703546389557352	n.a	2	1.0	CREBBP, DPP6
C4025246	XX	p	Abnormality of cardiac atrium	2/59	236/4277	0.7711109609014013	n.a	2	1.0	CREBBP, NEK1
C1301937	XX	p	Talipes	2/59	243/4277	0.7733203504876118	n.a	2	1.0	GLE1, WNT7A
C4025161	XX	p	Positional foot deformity	2/59	244/4277	0.7736845510687893	n.a	2	1.0	GLE1, WNT7A
C0266470	XX	p	Congenital cerebellar hypoplasia	2/59	246/4277	0.7744478484005378	n.a	2	1.0	FIG4, NEK1
C1855670	XX	p	Abnormality of the cornea	3/59	289/4277	0.7962656178777581	n.a	3	1.0	CREBBP, FIG4, LDLR
C4476761	XX	p	Abnormal spleen morphology	3/59	291/4277	0.7962754093591935	n.a	3	1.0	CFAP410, LAT, XIAP
C4025749	XX	p	Abnormality of the spleen	3/59	291/4277	0.7962754093591935	n.a	3	1.0	CFAP410, LAT, XIAP
C0344482	XX	p	Hypoplasia of the corpus callosum	3/59	306/4277	0.7976396604877579	n.a	3	1.0	SLC1A2, SPG11, TREM2
C3278923	XX	p	Ventriculomegaly	3/59	316/4277	0.7997289057212874	n.a	3	1.0	ATXN2, FIG4, NEK1
C0010417	XX	p	Cryptorchidism	4/59	362/4277	0.8153347455981226	n.a	4	1.0	CREBBP, FIG4, GLE1, WNT7A
C0391870	XX	p	Abnormality of erythrocytes	4/59	358/4277	0.8153987436998831	n.a	4	1.0	GSR, LAT, PLA2G4A, TP53
C4025630	XX	p	Abnormal bone structure	4/59	375/4277	0.8159731578055673	n.a	4	1.0	FIG4, SQSTM1, TREM2, WNT7A
C4073181	XX	p	Aplasia/hypoplasia involving bones of the extremities	4/59	381/4277	0.8166854681726288	n.a	4	1.0	CFAP410, FIG4, NEK1, WNT7A
C1861866	XX	p	Aplasia/Hypoplasia of the corpus callosum	5/59	435/4277	0.8293754297597757	n.a	5	1.0	CREBBP, FIG4, SLC1A2, SPG11, TREM2
C4025897	XX	p	Abnormality of male external genitalia	6/59	520/4277	0.8406206090055806	n.a	6	1.0	CREBBP, FIG4, GLE1, NEK1, TP53, WNT7A
C0028738	XX	p	Nystagmus	6/59	525/4277	0.8409948593755487	n.a	6	1.0	ATXN2, CFAP410, KIF5A, SETX, SPG11, SQSTM1
C4022855	XX	p	Abnormal involuntary eye movements	6/59	527/4277	0.8411771501067102	n.a	6	1.0	ATXN2, CFAP410, KIF5A, SETX, SPG11, SQSTM1
C4023432	XX	p	Abnormality of the metencephalon	7/59	574/4277	0.8489169638064802	n.a	7	1.0	ATXN2, CTSD, FIG4, NEK1, SETX, SOD1, SQSTM1
C4021170	XX	p	Abnormality of hindbrain morphology	7/59	574/4277	0.8489169638064802	n.a	7	1.0	ATXN2, CTSD, FIG4, NEK1, SETX, SOD1, SQSTM1
C1866129	XX	p	Abnormality of the cerebellum	7/59	570/4277	0.8490459261028327	n.a	7	1.0	ATXN2, CTSD, FIG4, NEK1, SETX, SOD1, SQSTM1
C4021207	XX	p	Abnormality of the cerebral subcortex	7/59	595/4277	0.8493450435621107	n.a	7	1.0	ATXN2, CREBBP, FIG4, GSX2, SLC1A2, SPG11, TREM2
C4023164	XX	p	Abnormality of skeletal physiology	11/59	867/4277	0.8710233518786987	n.a	11	1.0	ALS2, CREBBP, DPP6, FIG4, GLE1, SLC1A2, SPG11, SQSTM1, TP53, TREM2, WNT7A
C4021205	XX	p	Abnormal systemic arterial morphology	2/59	204/4277	1.0	n.a	2	1.0	CREBBP, LDLR
C0035243	XX	p	Respiratory tract infection	4/59	303/4277	1.0	n.a	4	1.0	CFAP410, CREBBP, JAK3, XIAP
C4022922	XX	p	Abnormal enzyme/coenzyme activity	3/59	242/4277	1.0	n.a	3	1.0	HNRNPA1, SQSTM1, VCP
C4021768	XX	p	Abnormality of metabolism/homeostasis	22/59	1620/4277	1.0	n.a	22	1.0	CHCHD10, CST3, CTSD, DCTN1, FIG4, GLE1, GSR, HNRNPA1, HNRNPA2B1, JAK3, LAT, LDLR, MATR3, NEFH, NEK1, PLA2G4A, SETX, SOD1, SQSTM1, TP53, VCP, XIAP
C4020870	XX	p	Abnormality of the hip joint	2/59	165/4277	1.0	n.a	2	1.0	FIG4, WNT7A
C4025724	XX	p	Abnormality of the cerebral ventricles	5/59	422/4277	1.0	n.a	5	1.0	ATXN2, FIG4, GFAP, NEK1, TP53
C0043094	XX	p	Increased body weight	2/59	169/4277	1.0	n.a	2	1.0	CREBBP, SPG11
C4025763	XX	p	Abnormality of the rib cage	3/59	229/4277	1.0	n.a	3	1.0	CFAP410, NEK1, WNT7A
C0478012	XX	p	Congenital malformation of the great arteries	2/59	200/4277	1.0	n.a	2	1.0	CREBBP, FIG4
C4025734	XX	p	Abnormality of the scalp	2/59	174/4277	1.0	n.a	2	1.0	CREBBP, FIG4
C4023612	XX	p	Abnormality of cellular immune system	4/59	305/4277	1.0	n.a	4	1.0	CREBBP, JAK3, TP53, XIAP
C0424295	XX	p	Hyperactivity	2/59	196/4277	1.0	n.a	2	1.0	CREBBP, DPP6
C4551492	XX	p	Micropenis	2/59	173/4277	1.0	n.a	2	1.0	FIG4, NEK1
C0005745	XX	p	Ptosis	4/59	302/4277	1.0	n.a	4	1.0	CHCHD10, CREBBP, GLE1, KIF5A
C0020255	XX	p	Hydrocephalus	2/59	157/4277	1.0	n.a	2	1.0	GFAP, TP53
C1849367	XX	p	Wide nasal bridge	3/59	227/4277	1.0	n.a	3	1.0	CREBBP, CTSD, WNT7A
C0040034	XX	p	Thrombocytopenia	2/59	194/4277	1.0	n.a	2	1.0	LAT, XIAP
C0152009	XX	p	Abnormality of leukocytes	4/59	305/4277	1.0	n.a	4	1.0	CREBBP, JAK3, TP53, XIAP
C0580317	XX	p	Abnormal platelet count	2/59	212/4277	1.0	n.a	2	1.0	LAT, XIAP
C0266623	XX	p	Abnormality of the neck	4/59	305/4277	1.0	n.a	4	1.0	CREBBP, FIG4, GLE1, WNT7A
C0035353	XX	p	Retrognathia	2/59	155/4277	1.0	n.a	2	1.0	CREBBP, GLE1
C0009806	XX	p	Constipation	2/59	149/4277	1.0	n.a	2	1.0	ATXN2, CREBBP
C4025843	XX	p	Abnormality of refraction	4/59	320/4277	1.0	n.a	4	1.0	CREBBP, GLE1, NEK1, OPTN
C0151854	XX	p	Abnormality of thrombocytes	3/59	228/4277	1.0	n.a	3	1.0	LAT, PLA2G4A, XIAP
C4021165	XX	p	Abnormality of long bone morphology	5/59	397/4277	1.0	n.a	5	1.0	CFAP410, CREBBP, NEK1, SQSTM1, WNT7A
C4025876	XX	p	Abnormality of the fontanelles or cranial sutures	3/59	222/4277	1.0	n.a	3	1.0	CREBBP, CTSD, FIG4
C4025036	XX	p	Aplasia/Hypoplasia involving bones of the feet	2/59	166/4277	1.0	n.a	2	1.0	FIG4, WNT7A
C4021810	XX	p	Abnormal location of ears	6/59	458/4277	1.0	n.a	6	1.0	CREBBP, CTSD, FIG4, GLE1, SOD1, WNT7A
C4023161	XX	p	Abnormal bone ossification	4/59	355/4277	1.0	n.a	4	1.0	FIG4, SQSTM1, TREM2, WNT7A
C4759656	XX	p	Abnormality of the testis	5/59	415/4277	1.0	n.a	5	1.0	CREBBP, FIG4, GLE1, TP53, WNT7A
C2675111	XX	p	Abnormality of the eyelashes	2/59	149/4277	1.0	n.a	2	1.0	CREBBP, FIG4
C4023820	XX	p	Abnormality of the female genitalia	3/59	235/4277	1.0	n.a	3	1.0	CREBBP, TP53, WNT7A
C4023185	XX	p	Neoplasm by anatomical site	6/59	439/4277	1.0	n.a	6	1.0	CREBBP, NEK1, SQSTM1, TAF15, TP53, XIAP
C0549651	XX	p	Abnormality of the lens	5/59	364/4277	1.0	n.a	5	1.0	CFAP410, CREBBP, FIG4, GSR, VIM
C0524528	XX	p	Pervasive developmental disorder	2/59	200/4277	1.0	n.a	2	1.0	CREBBP, GRIA3
C4025071	XX	p	Aplasia/Hypoplasia of fingers	2/59	170/4277	1.0	n.a	2	1.0	FIG4, WNT7A
C0042963	XX	p	Vomiting	2/59	145/4277	1.0	n.a	2	1.0	TNF, TP53
C4021264	XX	p	Abnormal ventricular septum morphology	3/59	234/4277	1.0	n.a	3	1.0	CREBBP, FIG4, NEK1
C4021832	XX	p	Abnormality of the calf	2/59	165/4277	1.0	n.a	2	1.0	NEK1, WNT7A
C0023015	XX	p	Language impairment	7/59	556/4277	1.0	n.a	7	1.0	CREBBP, GSX2, NEK1, SLC1A2, SOD1, SQSTM1, TBK1
C1856019	XX	p	Abnormal cortical gyration	2/59	189/4277	1.0	n.a	2	1.0	FIG4, NEK1
C4021976	XX	p	Abnormality of the lymphatic system	4/59	337/4277	1.0	n.a	4	1.0	CFAP410, JAK3, LAT, XIAP
C0521525	XX	p	Short neck	2/59	185/4277	1.0	n.a	2	1.0	GLE1, WNT7A
C2674608	XX	p	Feeding difficulties in infancy	2/59	210/4277	1.0	n.a	2	1.0	CREBBP, GSX2
C0038002	XX	p	Splenomegaly	3/59	226/4277	1.0	n.a	3	1.0	CFAP410, LAT, XIAP
C4025225	XX	p	Abnormality of the synovia	2/59	170/4277	1.0	n.a	2	1.0	FIG4, WNT7A
C0266435	XX	p	Hypoplasia of penis	2/59	176/4277	1.0	n.a	2	1.0	FIG4, NEK1
C2364164	XX	p	Abnormality of fluid regulation	3/59	267/4277	1.0	n.a	3	1.0	FIG4, GLE1, NEK1
C4025676	XX	p	Abnormality of the knee	2/59	174/4277	1.0	n.a	2	1.0	CREBBP, WNT7A
C0232411	XX	p	Sparse hair	2/59	199/4277	1.0	n.a	2	1.0	CREBBP, FIG4
C0013604	XX	p	Edema	3/59	232/4277	1.0	n.a	3	1.0	FIG4, GLE1, NEK1
C0027498	XX	p	Nausea and vomiting	2/59	148/4277	1.0	n.a	2	1.0	TNF, TP53
C4021948	XX	p	Abnormality of the palm	3/59	218/4277	1.0	n.a	3	1.0	CREBBP, FIG4, GLE1
C1855333	XX	p	External genital hypoplasia	3/59	234/4277	1.0	n.a	3	1.0	FIG4, NEK1, WNT7A
C0578038	XX	p	Thin vermilion border	2/59	198/4277	1.0	n.a	2	1.0	CREBBP, FIG4
C4022384	XX	p	Abnormality of the scalp hair	2/59	172/4277	1.0	n.a	2	1.0	CREBBP, FIG4
C4021614	XX	p	Abnormality of phalanx of finger	4/59	317/4277	1.0	n.a	4	1.0	CREBBP, FIG4, NEK1, WNT7A
C0022821	XX	p	Kyphosis	3/59	257/4277	1.0	n.a	3	1.0	GLE1, SLC1A2, SPG11
C0018818	XX	p	Ventricular septal defect	3/59	227/4277	1.0	n.a	3	1.0	CREBBP, FIG4, NEK1
C4021152	XX	p	Abnormal CNS myelination	2/59	174/4277	1.0	n.a	2	1.0	GFAP, TREM2
C0002871	XX	p	Anemia	4/59	327/4277	1.0	n.a	4	1.0	GSR, LAT, PLA2G4A, TP53
C4025109	XX	p	Abnormal hand morphology	2/59	206/4277	1.0	n.a	2	1.0	FIG4, GLE1