# GO	NS	enrichment	name	ratio_in_study	ratio_in_pop	p_uncorrected	depth	study_count	p_fdr_bh	study_items
C0085400	XX	e	Neurofibrillary tangles	6/58	19/4277	1.1310217974452932e-07	n.a	6	0.000842398435706	APOE, APP, GRN, MAPT, NOS3, PSEN1
C0002726	XX	e	Amyloidosis	6/58	21/4277	2.2150892340417015e-07	n.a	6	0.000842398435706	APOA1, APOE, APP, FGA, GSN, TTR
C4022149	XX	e	Cerebral inclusion bodies	7/58	37/4277	4.3689833247280795e-07	n.a	7	0.001107682905596	APOE, APP, GRN, MAPT, NOS3, PSEN1, SNCA
C0474420	XX	e	Inappropriate sexual behavior	3/58	3/4277	2.3679788025109934e-06	n.a	3	0.0045027116929746	GRN, MAPT, PSEN1
C0497327	XX	e	Dementia	10/58	127/4277	5.818347294909305e-06	n.a	10	0.008850869905016	APOE, APP, CP, GRN, HTT, MAPT, NOS3, PSEN1, SNCA, TTR
C0002395	XX	e	Alzheimer disease	4/58	11/4277	9.365915094814595e-06	n.a	4	0.0102803062285401	APOE, APP, NOS3, PSEN1
C0242422	XX	e	Parkinsonism	8/58	80/4277	9.461233710199978e-06	n.a	8	0.0102803062285401	APOE, APP, GRN, MAPT, NOS3, PRKN, PSEN1, SNCA
C0234133	XX	e	Abnormality of extrapyramidal motor function	10/58	143/4277	1.681543646505441e-05	n.a	10	0.0159872762191504	APOE, APP, CP, GRN, HTT, MAPT, NOS3, PRKN, PSEN1, SNCA
C1838320	XX	e	Hyperorality	3/58	5/4277	2.322501330365636e-05	n.a	3	0.0196277167986233	GRN, MAPT, PSEN1
C0240735	XX	e	Personality changes	5/58	29/4277	3.5647449140595605e-05	n.a	5	0.027113449816337	APOE, GRN, HTT, MAPT, PSEN1
C1862968	XX	e	Generalized amyloid deposition	3/58	6/4277	4.6002135803246514e-05	n.a	3	0.031808385901772	APOA1, FGA, GSN
C0234985	XX	e	Mental deterioration	11/58	205/4277	7.319493046191287e-05	n.a	11	0.0463933867577757	APOE, APP, CP, GRN, HTT, MAPT, MTHFR, NOS3, PSEN1, SNCA, TTR
C4020869	XX	e	Abnormality of abdomen morphology	16/58	427/4277	0.00011247685947	n.a	16	0.0658076148560831	ALDOB, APOA1, APOE, ARG1, DHFR, FGA, GSN, HADHA, HMOX1, IFNG, NOTCH1, PC, PNP, PRKCD, PYGL, TALDO1
C4021993	XX	e	Abnormality of the glial cells	7/58	89/4277	0.00016918014329	n.a	7	0.0741654167812329	GRN, HTT, IFNG, MAPT, PRKN, PSEN1, SNCA
C0242528	XX	e	Azotemia	7/58	89/4277	0.00016918014329	n.a	7	0.0741654167812329	ALDOB, ARG1, CFH, HADHA, NR1H4, PNP, PPARG
C0233469	XX	e	Emotional blunting	2/58	2/4277	0.0001807698103689	n.a	2	0.0741654167812329	MAPT, PSEN1
C1865903	XX	e	Long-tract signs	3/58	9/4277	0.0001876788194143	n.a	3	0.0741654167812329	APOE, APP, NOS3
C0233651	XX	e	Perseveration	3/58	9/4277	0.0001876788194143	n.a	3	0.0741654167812329	GRN, MAPT, PSEN1
C5139039	XX	e	Abnormality of carboxylic acid metabolism	9/58	154/4277	0.0001889346644641	n.a	9	0.0741654167812329	ABCC2, ALDOB, APP, ARG1, GPX1, MAT1A, MTHFR, NOS3, PC
C0017639	XX	e	Gliosis	6/58	64/4277	0.0001950181876971	n.a	6	0.0741654167812329	GRN, HTT, MAPT, PRKN, PSEN1, SNCA
C4025336	XX	e	Abnormality of nitrogen compound homeostasis	7/58	92/4277	0.0002084163361634	n.a	7	0.0749070317719583	ALDOB, ARG1, CFH, HADHA, NR1H4, PNP, PPARG
C0042782	XX	e	Visceromegaly	15/58	404/4277	0.0002166650932136	n.a	15	0.0749070317719583	ALDOB, APOA1, APOE, ARG1, DHFR, FGA, HADHA, HMOX1, IFNG, NOTCH1, PC, PNP, PRKCD, PYGL, TALDO1
C5139058	XX	e	Abnormality of carbohydrate metabolism/homeostasis	4/58	29/4277	0.0005618002970088	n.a	4	0.1780438774604031	AIFM1, IL6, PC, SORD
C4023587	XX	e	Abnormality of cardiovascular system physiology	19/58	648/4277	0.0006431767447493	n.a	19	0.1956800928225274	ACTB, AGT, ALB, ALDOB, APOA1, APOE, APP, CFH, FGA, HADHA, IFNG, MTHFR, NOS3, NOTCH1, PPARG, PSEN1, SNCA, TTR, VWF
C0020505	XX	e	Polyphagia	4/58	31/4277	0.0007293862056203	n.a	4	0.2133735184595544	GRN, IL6, MAPT, PSEN1
C4531031	XX	e	Abnormal liver morphology	15/58	457/4277	0.0008259862895179	n.a	15	0.2326833969656726	ALDOB, APOA1, APOE, ARG1, DHFR, FGA, HADHA, HMOX1, IFNG, NR1H4, PC, PPARG, PRKCD, PYGL, TALDO1
C0850715	XX	e	Abnormality of blood and blood-forming tissues	21/58	776/4277	0.0009052753992868	n.a	21	0.2438137580145254	ALDOB, APOE, APP, BAX, CFH, CP, CYP2C9, DHFR, FGA, GPX1, HMOX1, IFNG, MTHFR, NOS3, NOTCH1, NR1H4, PLAT, PNP, PRKCD, TALDO1, VWF
C0233794	XX	e	Memory impairment	4/58	33/4277	0.0009296080702631	n.a	4	0.2438137580145254	APOE, GRN, MAPT, PSEN1
C1850496	XX	e	Neuronal loss in central nervous system	4/58	34/4277	0.0010429813746995	n.a	4	0.2614909551596256	GRN, HTT, MAPT, PSEN1
C0085220	XX	e	Cerebral amyloid angiopathy	2/58	4/4277	0.0010657664488493	n.a	2	0.2614909551596256	APOE, APP
C4021982	XX	e	Abnormal eating behavior	4/58	35/4277	0.0011657437708887	n.a	4	0.2616036354668806	GRN, IL6, MAPT, PSEN1
C4025690	XX	e	Prenatal maternal abnormality	3/58	16/4277	0.0011694088359024	n.a	3	0.2616036354668806	HADHA, NOS3, PPARG
C0233522	XX	e	Inappropriate behavior	3/58	16/4277	0.0011694088359024	n.a	3	0.2616036354668806	GRN, MAPT, PSEN1
C4021764	XX	e	Abnormality of the abdominal organs	18/58	628/4277	0.0012112841159798	n.a	18	0.2632293424612283	ABCC2, ALDOB, APOA1, APOE, ARG1, DHFR, FGA, HADHA, HMOX1, IFNG, NOTCH1, NR1H4, PC, PNP, PPARG, PRKCD, PYGL, TALDO1
CN168062	XX	e	Abnormal renal physiology	11/58	285/4277	0.0012845373557191	n.a	11	0.2713941979888943	AGT, ALDOB, APOA1, APOE, CFH, FGA, GSN, HMOX1, IL6, PC, PRKCD
C4025653	XX	e	Abnormality of serum amino acid levels	6/58	93/4277	0.0014638416803958	n.a	6	0.2929994689760772	APP, ARG1, MAT1A, MTHFR, NOS3, PC
C4021768	XX	e	Abnormality of metabolism/homeostasis	34/58	1620/4277	0.001519575048117	n.a	34	0.2963560978455956	ABCC2, AIFM1, ALB, ALDOB, APOA1, APOE, APP, ARG1, CAT, CFH, CP, CYP2C9, DLAT, FGA, GPX1, GSN, HADHA, HMOX1, IFNG, IGF1, IL6, MAT1A, MTHFR, NFE2L2, NOS3, NR1H4, PC, PNP, PPARG, PRKCD, PRKN, PYGL, SORD, TTR
C0338451	XX	e	Frontotemporal dementia	3/58	18/4277	0.0016714716471775	n.a	3	0.3159302312352269	GRN, MAPT, PSEN1
C4476887	XX	e	Abnormal systemic blood pressure	9/58	208/4277	0.001703015971686	n.a	9	0.3159302312352269	AGT, ALB, APOA1, CFH, FGA, NOS3, PPARG, SNCA, TTR
C0020649	XX	e	Hypotension	4/58	39/4277	0.0017588853067311	n.a	4	0.3185257534047007	AGT, ALB, SNCA, TTR
C0008370	XX	e	Cholestasis	7/58	132/4277	0.0018404054550728	n.a	7	0.3194685630282887	ABCC2, ALDOB, APOA1, ARG1, DHFR, FGA, NR1H4
C4021780	XX	e	Abnormality of the liver	16/58	537/4277	0.0019240851661593	n.a	16	0.3194685630282887	ABCC2, ALDOB, APOA1, APOE, ARG1, DHFR, FGA, HADHA, HMOX1, IFNG, NR1H4, PC, PPARG, PRKCD, PYGL, TALDO1
C0580317	XX	e	Abnormal platelet count	9/58	212/4277	0.0019444071373586	n.a	9	0.3194685630282887	APOE, CFH, DHFR, IFNG, NOS3, PNP, PRKCD, TALDO1, VWF
C0085200	XX	e	Lewy bodies	3/58	19/4277	0.0019658528093563	n.a	3	0.3194685630282887	GRN, MAPT, SNCA
C4023437	XX	e	Abnormality of the urinary system physiology	16/58	539/4277	0.0019741023484524	n.a	16	0.3194685630282887	AGT, ALDOB, APOA1, APOE, ARG1, CFH, FGA, GSN, HADHA, HMOX1, IL6, MTHFR, NOS3, PC, PNP, PRKCD
C4023597	XX	e	Abnormality of blood glucose concentration	7/58	140/4277	0.002578223980994	n.a	7	0.3798414047355374	ALDOB, HADHA, IL6, NR1H4, PC, PPARG, PYGL
C0338455	XX	e	Frontal lobe dementia	2/58	6/4277	0.0026181900409289	n.a	2	0.3798414047355374	MAPT, PSEN1
C0268435	XX	e	Proximal renal tubular acidosis	2/58	6/4277	0.0026181900409289	n.a	2	0.3798414047355374	ALDOB, PC
C0042487	XX	e	Venous thrombosis	3/58	21/4277	0.0026468044242681	n.a	3	0.3798414047355374	MTHFR, NOTCH1, PLAT
C0085632	XX	e	Apathy	3/58	21/4277	0.0026468044242681	n.a	3	0.3798414047355374	GRN, MAPT, PSEN1
C0456814	XX	e	Diminished motivation	3/58	22/4277	0.0030353975132451	n.a	3	0.427541360847091	GRN, MAPT, PSEN1
C0151854	XX	e	Abnormality of thrombocytes	9/58	228/4277	0.0031995452854033	n.a	9	0.441727860357823	APOE, CFH, DHFR, IFNG, NOS3, PNP, PRKCD, TALDO1, VWF
C0018965	XX	e	Hematuria	4/58	46/4277	0.0032522692847801	n.a	4	0.441727860357823	APOA1, CFH, FGA, HMOX1
C0019209	XX	e	Hepatomegaly	11/58	321/4277	0.0033275288294041	n.a	11	0.4440207767797895	ALDOB, APOA1, ARG1, DHFR, FGA, HADHA, HMOX1, PC, PRKCD, PYGL, TALDO1
C0587955	XX	e	Abnormal urine cytology	4/58	47/4277	0.0035192564383431	n.a	4	0.4530650954573885	APOA1, CFH, FGA, HMOX1
C4073150	XX	e	Abnormal consumption behavior	4/58	47/4277	0.0035192564383431	n.a	4	0.4530650954573885	GRN, IL6, MAPT, PSEN1
C0001816	XX	e	Agnosia	2/58	7/4277	0.003633574917552	n.a	2	0.4530650954573885	APOE, PSEN1
C1837512	XX	e	Decreased serum complement C3	2/58	7/4277	0.003633574917552	n.a	2	0.4530650954573885	CFH, PRKCD
C0040034	XX	e	Thrombocytopenia	8/58	194/4277	0.0042189985492893	n.a	8	0.5175758542886305	APOE, CFH, DHFR, NOS3, PNP, PRKCD, TALDO1, VWF
C1840376	XX	e	Elevated mean arterial pressure	2/58	8/4277	0.0048026546634976	n.a	2	0.5619844826240452	AGT, NOS3
C0032914	XX	e	Preeclampsia	2/58	8/4277	0.0048026546634976	n.a	2	0.5619844826240452	NOS3, PPARG
C0013528	XX	e	Echolalia	2/58	8/4277	0.0048026546634976	n.a	2	0.5619844826240452	MAPT, PSEN1
C0018524	XX	e	Hallucinations	4/58	53/4277	0.0054398446672585	n.a	4	0.6238170748895719	GRN, MAPT, MTHFR, SNCA
C4023643	XX	e	Abnormality of nucleobase metabolism	3/58	27/4277	0.0054951017640811	n.a	3	0.6238170748895719	ALDOB, PNP, PPARG
C4022001	XX	e	Abnormality of the cerebral vasculature	6/58	122/4277	0.0057348933405011	n.a	6	0.6397224418561432	APP, IL6, MTHFR, NOS3, PNP, TTR
C0026837	XX	e	Rigidity	5/58	86/4277	0.0058034247289079	n.a	5	0.6397224418561432	CP, HTT, MAPT, PRKN, SNCA
C1840374	XX	e	Elevated systolic blood pressure	2/58	9/4277	0.0061212191903469	n.a	2	0.6466387939135956	AGT, NOS3
C1840375	XX	e	Elevated diastolic blood pressure	2/58	9/4277	0.0061212191903469	n.a	2	0.6466387939135956	AGT, NOS3
C4551893	XX	e	Toxemia of pregnancy	2/58	9/4277	0.0061212191903469	n.a	2	0.6466387939135956	NOS3, PPARG
C0973461	XX	e	Dysphasia	2/58	10/4277	0.0075851409361298	n.a	2	0.7796294859486975	CFH, GRN
C0151811	XX	e	Subcutaneous nodule	2/58	10/4277	0.0075851409361298	n.a	2	0.7796294859486975	IFNG, MMP2
C0003635	XX	e	Apraxia	5/58	92/4277	0.0077049520774046	n.a	5	0.7813848733431923	APOE, DLAT, GRN, MAPT, PSEN1
C4025710	XX	e	Diminished movement	3/58	31/4277	0.0081272243589654	n.a	3	0.7934173845774494	AIFM1, MAPT, SNCA
C0002878	XX	e	Hemolytic anemia	5/58	95/4277	0.0088026836084666	n.a	5	0.7934173845774494	CFH, GPX1, HMOX1, PNP, PRKCD
C4021112	XX	e	Anemia due to reduced life span of red cells	5/58	95/4277	0.0088026836084666	n.a	5	0.7934173845774494	CFH, GPX1, HMOX1, PNP, PRKCD
C0003507	XX	e	Aortic valve stenosis	3/58	32/4277	0.0088826048315075	n.a	3	0.7934173845774494	ACTB, NOTCH1, VWF
C0233565	XX	e	Bradykinesia	4/58	61/4277	0.0089478361618725	n.a	4	0.7934173845774494	HTT, MAPT, PRKN, SNCA
C1846865	XX	e	Substantia nigra gliosis	2/58	11/4277	0.0091903734624081	n.a	2	0.7934173845774494	MAPT, PRKN
C0424304	XX	e	Inappropriate laughter	2/58	11/4277	0.0091903734624081	n.a	2	0.7934173845774494	MAPT, PSEN1
C0038002	XX	e	Splenomegaly	8/58	226/4277	0.0104242507644915	n.a	8	0.7934173845774494	APOA1, APOE, FGA, IFNG, NOTCH1, PNP, PRKCD, TALDO1
C0428465	XX	e	Hyperlipidemia	4/58	64/4277	0.0105722514996557	n.a	4	0.7934173845774494	ALB, CFH, PPARG, PYGL
C2937365	XX	e	Recurrent aphthous stomatitis	2/58	12/4277	0.0109329500749658	n.a	2	0.7934173845774494	IL6, PRKDC
C3887784	XX	e	Decreased urine output	2/58	12/4277	0.0109329500749658	n.a	2	0.7934173845774494	AGT, CFH
C4022403	XX	e	Abnormality of the substantia nigra	2/58	12/4277	0.0109329500749658	n.a	2	0.7934173845774494	MAPT, PRKN
C0003460	XX	e	Anuria	2/58	12/4277	0.0109329500749658	n.a	2	0.7934173845774494	AGT, CFH
C0940767	XX	e	Abnormality of the biliary system	7/58	183/4277	0.0110925705002857	n.a	7	0.7934173845774494	ABCC2, ALDOB, APOA1, ARG1, DHFR, FGA, NR1H4
C0027726	XX	e	Nephrotic syndrome	4/58	65/4277	0.0111534681809699	n.a	4	0.7934173845774494	APOA1, FGA, GSN, PRKCD
C1843921	XX	e	Postural instability	3/58	36/4277	0.0123073158309509	n.a	3	0.7934173845774494	MAPT, PRKN, SNCA
C1848701	XX	e	Elevated hepatic transaminases	6/58	144/4277	0.0125726916128134	n.a	6	0.7934173845774494	ALDOB, HADHA, NOS3, NR1H4, PRKCD, PYGL
C0038454	XX	e	Stroke	4/58	68/4277	0.0130199856913241	n.a	4	0.7934173845774494	APP, MTHFR, NOS3, TTR
C0033687	XX	e	Proteinuria	5/58	106/4277	0.0137544935489715	n.a	5	0.7986005949120429	APOA1, APOE, FGA, HMOX1, NOS3
C0422895	XX	e	Primitive reflex	2/58	14/4277	0.0148146593689453	n.a	2	0.8408977549268534	MAPT, PSEN1
C0026884	XX	e	Mutism	2/58	14/4277	0.0148146593689453	n.a	2	0.8408977549268534	GRN, MAPT
C4022595	XX	e	Tetraplegia/tetraparesis	4/58	71/4277	0.0150758464545098	n.a	4	0.8431388833308948	AIFM1, APOE, PNP, PSEN1
C4520981	XX	e	Abnormality of the basal ganglia	4/58	71/4277	0.0150758464545098	n.a	4	0.8431388833308948	AIFM1, HTT, MAPT, PRKN
C4025731	XX	e	Abnormal thrombosis	3/58	39/4277	0.0153088307338789	n.a	3	0.8499194639553549	MTHFR, NOTCH1, PLAT
C0424296	XX	e	Disinhibition	3/58	40/4277	0.0163932169510199	n.a	3	0.903527595141	GRN, MAPT, PSEN1
C0149871	XX	e	Deep venous thrombosis	2/58	15/4277	0.0169462452565002	n.a	2	0.9272887872010156	MTHFR, PLAT
C3693260	XX	e	Abnormal urine output	3/58	42/4277	0.0186888990941378	n.a	3	1.0	AGT, CFH, IL6
C4021660	XX	e	Abnormality of sulfur amino acid metabolism	2/58	16/4277	0.0192000790309037	n.a	2	1.0	MAT1A, MTHFR
C4021255	XX	e	Weakness due to upper motor neuron dysfunction	7/58	204/4277	0.0192674964405704	n.a	7	1.0	AIFM1, APOE, ARG1, CFH, PNP, PSEN1, TTR
C1849039	XX	e	Metaphyseal widening	4/58	77/4277	0.0197787563849564	n.a	4	1.0	AIFM1, MMP2, MMP9, PCYT1A
C0266015	XX	e	Abnormality of the digestive system	31/58	1647/4277	0.0209149412145154	n.a	31	1.0	ABCB1, ABCC2, ACTB, ALDOB, APOA1, APOE, ARG1, BAX, CFH, DHFR, FGA, GSN, HADHA, HMOX1, HTT, IFNG, IL1B, IL6, MAPT, NOTCH1, NR1H4, PC, PNP, PPARG, PRKCD, PSEN1, PYGL, SNCA, TALDO1, TTR, VWF
C0015230	XX	e	Skin rash	3/58	44/4277	0.0211545946009733	n.a	3	1.0	APOA1, FGA, IFNG
C4023579	XX	e	Abnormality of renal excretion	3/58	44/4277	0.0211545946009733	n.a	3	1.0	AGT, CFH, IL6
C0020651	XX	e	Orthostatic hypotension	2/58	17/4277	0.021572572754355	n.a	2	1.0	SNCA, TTR
C0740394	XX	e	Hyperuricemia	2/58	17/4277	0.021572572754355	n.a	2	1.0	ALDOB, PPARG
C4021821	XX	e	Abnormality of the urinary system	22/58	1055/4277	0.0216919856935078	n.a	22	1.0	AGT, ALDOB, APOA1, APOE, ARG1, BAX, CCL2, CFH, FGA, GSN, HADHA, HMOX1, IFNG, IL6, MAPT, MTHFR, NOS3, PC, PNP, PRKCD, SNCA, TTR
C0220994	XX	e	Hyperammonemia	3/58	46/4277	0.0237908628632594	n.a	3	1.0	ARG1, HADHA, NR1H4
C4025722	XX	e	Abnormality of the spinal cord	5/58	122/4277	0.0238888696507574	n.a	5	1.0	APOE, APP, CCL2, MTHFR, NOS3
C0086439	XX	e	Hypokinesia	2/58	18/4277	0.0240602103928214	n.a	2	1.0	AIFM1, SNCA
C1260959	XX	e	Drusen	2/58	18/4277	0.0240602103928214	n.a	2	1.0	APOE, CFH
C1837082	XX	e	Metaphyseal cupping	2/58	18/4277	0.0240602103928214	n.a	2	1.0	AIFM1, PCYT1A
C1865039	XX	e	Cupped ribs	2/58	18/4277	0.0240602103928214	n.a	2	1.0	AIFM1, PCYT1A
C0267812	XX	e	Micronodular cirrhosis	2/58	18/4277	0.0240602103928214	n.a	2	1.0	ARG1, TALDO1
C1839364	XX	e	Progressive visual loss	3/58	47/4277	0.0251730178466961	n.a	3	1.0	APOE, CFH, PCYT1A
C0332573	XX	e	Macule	4/58	83/4277	0.0253020574482059	n.a	4	1.0	IFNG, IL6, MMP2, PRKCD
C0020615	XX	e	Hypoglycemia	5/58	124/4277	0.0254232297392974	n.a	5	1.0	ALDOB, HADHA, NR1H4, PC, PYGL
C0231688	XX	e	Shuffling gait	2/58	19/4277	0.0266595465787719	n.a	2	1.0	MAPT, SNCA
C4025334	XX	e	Abnormality of glycolysis	2/58	19/4277	0.0266595465787719	n.a	2	1.0	AIFM1, PC
C1849488	XX	e	Increased serum pyruvate	2/58	19/4277	0.0266595465787719	n.a	2	1.0	AIFM1, PC
C0002880	XX	e	Autoimmune hemolytic anemia	2/58	20/4277	0.0293672053968787	n.a	2	1.0	PNP, PRKCD
C0151480	XX	e	Antinuclear antibody positivity	2/58	20/4277	0.0293672053968787	n.a	2	1.0	MMP2, PRKCD
C1408258	XX	e	Nephropathy	2/58	20/4277	0.0293672053968787	n.a	2	1.0	APOA1, FGA
C0038362	XX	e	Stomatitis	2/58	20/4277	0.0293672053968787	n.a	2	1.0	IL6, PRKDC
C0242584	XX	e	Autoimmune thrombocytopenia	2/58	20/4277	0.0293672053968787	n.a	2	1.0	PNP, PRKCD
C0410935	XX	e	Wide cranial sutures	2/58	20/4277	0.0293672053968787	n.a	2	1.0	AGT, MMP2
C0020433	XX	e	Hyperbilirubinemia	3/58	50/4277	0.0295752273331178	n.a	3	1.0	ABCC2, ALDOB, GPX1
C0004368	XX	e	Autoimmunity	4/58	88/4277	0.0305531219119069	n.a	4	1.0	IL6, MMP2, PNP, PRKCD
C0085631	XX	e	Agitation	2/58	21/4277	0.0321798791834038	n.a	2	1.0	GRN, HTT
C0272242	XX	e	Complement deficiency	2/58	21/4277	0.0321798791834038	n.a	2	1.0	CFH, PRKCD
C0427086	XX	e	Involuntary movements	14/58	590/4277	0.0324024023854463	n.a	14	1.0	AIFM1, APOE, CP, DHFR, DLAT, GRN, HTT, MAPT, PC, PNP, PRKN, PSEN1, SNCA, TTR
C0152025	XX	e	Polyneuropathy	3/58	52/4277	0.0327223995001261	n.a	3	1.0	AIFM1, GSN, TTR
C4025655	XX	e	Abnormality of urine homeostasis	10/58	384/4277	0.0357681712345192	n.a	10	1.0	ALDOB, APOA1, APOE, ARG1, CFH, FGA, HADHA, HMOX1, MTHFR, NOS3
C0270790	XX	e	Tetraparesis	3/58	54/4277	0.0360383499681284	n.a	3	1.0	APOE, PNP, PSEN1
C1390214	XX	e	Internal hemorrhage	4/58	93/4277	0.0364063302345145	n.a	4	1.0	ALDOB, APOE, APP, VWF
C4023585	XX	e	Abnormality of blood circulation	4/58	94/4277	0.0376499265641662	n.a	4	1.0	ALDOB, APOE, APP, VWF
C4024756	XX	e	Abnormality of macular pigmentation	2/58	23/4277	0.0381073752243329	n.a	2	1.0	APOE, PCYT1A
C0020456	XX	e	Hyperglycemia	2/58	23/4277	0.0381073752243329	n.a	2	1.0	IL6, PPARG
C4025213	XX	e	Abnormality of complement system	2/58	23/4277	0.0381073752243329	n.a	2	1.0	CFH, PRKCD
C0002871	XX	e	Anemia	9/58	327/4277	0.0398640360518699	n.a	9	1.0	CFH, CP, DHFR, GPX1, HMOX1, IFNG, PNP, PRKCD, TALDO1
C1836696	XX	e	Lower limb hyperreflexia	2/58	24/4277	0.0412159129046508	n.a	2	1.0	APOE, PSEN1
C0019214	XX	e	Hepatosplenomegaly	3/58	57/4277	0.0413257594043603	n.a	3	1.0	IFNG, PRKCD, TALDO1
C0022346	XX	e	Jaundice	4/58	97/4277	0.0415273015707279	n.a	4	1.0	ABCC2, ALDOB, DHFR, NR1H4
C4023170	XX	e	Abnormality of oral mucosa	5/58	143/4277	0.043208647891911	n.a	5	1.0	CAT, IFNG, IL6, MMP2, PRKDC
C4022922	XX	e	Abnormal enzyme/coenzyme activity	7/58	242/4277	0.043498503689849	n.a	7	1.0	ALDOB, CAT, HADHA, NOS3, NR1H4, PRKCD, PYGL
C0234379	XX	e	Resting tremor	2/58	25/4277	0.0444168941398716	n.a	2	1.0	MAPT, SNCA
C0001126	XX	e	Renal tubular acidosis	2/58	25/4277	0.0444168941398716	n.a	2	1.0	ALDOB, PC
C4025759	XX	e	Abnormality of the mitral valve	3/58	59/4277	0.0450572193312594	n.a	3	1.0	MMP2, NOTCH1, VWF
C1458140	XX	e	Abnormal bleeding	6/58	195/4277	0.0469828799155808	n.a	6	1.0	ALDOB, APOE, APP, CFH, FGA, VWF
C0853228	XX	e	Abnormal serum ferritin	2/58	26/4277	0.0477073352224906	n.a	2	1.0	CP, IFNG
C0037287	XX	e	Skin nodule	2/58	26/4277	0.0477073352224906	n.a	2	1.0	IFNG, MMP2
C0241013	XX	e	Increased serum ferritin	2/58	26/4277	0.0477073352224906	n.a	2	1.0	CP, IFNG
C4024995	XX	e	Abnormality of the atrioventricular valves	3/58	62/4277	0.050959116636523	n.a	3	1.0	MMP2, NOTCH1, VWF
CN001193	XX	e	Pachygyria	3/58	63/4277	0.053006518137079	n.a	3	1.0	ACTB, PRKDC, TUBA1A
C0042063	XX	e	Abnormality of the genitourinary system	28/58	1529/4277	0.0530284648802613	n.a	28	1.0	ACTB, AGT, ALDOB, APOA1, APOE, ARG1, BAX, CCL2, CFH, FGA, GSN, HADHA, HMOX1, IFNG, IL6, MAPT, MTHFR, NOS3, PC, PNP, PPARG, PRKCD, PRKDC, PRKN, SNCA, TALDO1, TTR, VWF
C4023598	XX	e	Abnormal glucose homeostasis	8/58	283/4277	0.0537784943279819	n.a	8	1.0	ALDOB, CP, HADHA, IL6, NR1H4, PC, PPARG, PYGL
C1859778	XX	e	Postnatal growth retardation	4/58	106/4277	0.0544800885028421	n.a	4	1.0	ACTB, ARG1, PCYT1A, PYGL
C1262477	XX	e	Weight loss	2/58	28/4277	0.0545449683009922	n.a	2	1.0	IL6, SNCA
C0391870	XX	e	Abnormality of erythrocytes	9/58	358/4277	0.0557836880413881	n.a	9	1.0	CFH, CP, DHFR, GPX1, HMOX1, IFNG, PNP, PRKCD, TALDO1
C4476761	XX	e	Abnormal spleen morphology	8/58	291/4277	0.0571351904501979	n.a	8	1.0	APOA1, APOE, FGA, IFNG, NOTCH1, PNP, PRKCD, TALDO1
C4025749	XX	e	Abnormality of the spleen	8/58	291/4277	0.0571351904501979	n.a	8	1.0	APOA1, APOE, FGA, IFNG, NOTCH1, PNP, PRKCD, TALDO1
C4025701	XX	e	Abnormality of the cerebral cortex	8/58	292/4277	0.0576076685447948	n.a	8	1.0	ACTB, APOE, GRN, IFNG, PC, PRKDC, PSEN1, TUBA1A
C0241654	XX	e	Abnormality of the heart valves	4/58	111/4277	0.0625273029386968	n.a	4	1.0	ACTB, MMP2, NOTCH1, VWF
C5139055	XX	e	Abnormality of dicarboxylic acid metabolism	3/58	68/4277	0.0638296347851538	n.a	3	1.0	ABCC2, ALDOB, GPX1
C0005779	XX	e	Abnormality of the coagulation cascade	3/58	68/4277	0.0638296347851538	n.a	3	1.0	FGA, NR1H4, VWF
C4022838	XX	e	Abnormality of the nephron	4/58	112/4277	0.0642089212262406	n.a	4	1.0	AGT, APOE, CFH, PRKCD
C0035244	XX	e	Neoplasm of the respiratory system	2/58	31/4277	0.0654012508998767	n.a	2	1.0	IFNG, PRKN
C0030312	XX	e	Pancytopenia	3/58	69/4277	0.0661089851202985	n.a	3	1.0	DHFR, IFNG, TALDO1
C3887611	XX	e	Restlessness	2/58	32/4277	0.0691691606374968	n.a	2	1.0	GRN, HTT
C1836184	XX	e	Short femoral neck	2/58	32/4277	0.0691691606374968	n.a	2	1.0	AIFM1, MMP9
C0262655	XX	e	Recurrent urinary tract infections	2/58	32/4277	0.0691691606374968	n.a	2	1.0	PNP, PRKCD
C0017181	XX	e	Gastrointestinal hemorrhage	2/58	33/4277	0.073007306194119	n.a	2	1.0	ALDOB, VWF
C4022660	XX	e	Autoimmune antibody positivity	2/58	33/4277	0.073007306194119	n.a	2	1.0	MMP2, PRKCD
C0002736	XX	e	Amyotrophic lateral sclerosis	2/58	33/4277	0.073007306194119	n.a	2	1.0	MAPT, PSEN1
C4021524	XX	e	Abnormality of adipose tissue	3/58	73/4277	0.0755959439894264	n.a	3	1.0	ALB, CCL2, PPARG
C2700617	XX	e	Irritability	3/58	73/4277	0.0755959439894264	n.a	3	1.0	ARG1, MAPT, PSEN1
C0241665	XX	e	Abnormal venous morphology	2/58	34/4277	0.0769131664418252	n.a	2	1.0	PPARG, PRKCD
C0575059	XX	e	Spastic tetraparesis	2/58	34/4277	0.0769131664418252	n.a	2	1.0	APOE, PSEN1
C4025812	XX	e	Dermatological manifestations of systemic disorders	4/58	121/4277	0.0804064856378433	n.a	4	1.0	ABCC2, ALDOB, DHFR, NR1H4
C4025814	XX	e	Abnormality of the metaphysis	4/58	121/4277	0.0804064856378433	n.a	4	1.0	AIFM1, MMP2, MMP9, PCYT1A
C0085606	XX	e	Urinary urgency	2/58	35/4277	0.0808842735996661	n.a	2	1.0	MAPT, SNCA
C0040485	XX	e	Torticollis	2/58	35/4277	0.0808842735996661	n.a	2	1.0	CP, MAPT
C4024594	XX	e	Aplasia/Hypoplasia involving the femoral head and neck	2/58	36/4277	0.0849182122925694	n.a	2	1.0	AIFM1, MMP9
C0011253	XX	e	Delusions	2/58	36/4277	0.0849182122925694	n.a	2	1.0	MTHFR, SNCA
C3163798	XX	e	Recurrent lower respiratory tract infections	3/58	77/4277	0.0856541123511958	n.a	3	1.0	PNP, PRKCD, PRKDC
C4025714	XX	e	Abnormality of the autonomic nervous system	3/58	78/4277	0.0882546204513481	n.a	3	1.0	MAPT, SNCA, TTR
C1842774	XX	e	Hypermelanotic macule	3/58	78/4277	0.0882546204513481	n.a	3	1.0	IFNG, IL6, MMP2
C4072991	XX	e	Yellow/white lesions of the retina	2/58	37/4277	0.0890126186208445	n.a	2	1.0	APOE, CFH
C4023601	XX	e	Abnormality of the musculature of the neck	2/58	37/4277	0.0890126186208445	n.a	2	1.0	CP, MAPT
C1846821	XX	e	Abnormality of coagulation	3/58	79/4277	0.0908886042136292	n.a	3	1.0	FGA, NR1H4, VWF
C0239138	XX	e	Coxa vara	2/58	38/4277	0.093165179253338	n.a	2	1.0	AIFM1, PCYT1A
C4023758	XX	e	Abnormality of the meninges	2/58	39/4277	0.097373630523485	n.a	2	1.0	CCL2, TTR
C1838662	XX	e	Metaphyseal irregularity	2/58	39/4277	0.097373630523485	n.a	2	1.0	MMP9, PCYT1A
C0038273	XX	e	Stereotypy	3/58	82/4277	0.0989867236258648	n.a	3	1.0	GRN, MAPT, PSEN1
C4024896	XX	e	Motor neuron atrophy	2/58	40/4277	0.1016357575544893	n.a	2	1.0	MAPT, PSEN1
C0151747	XX	e	Renal tubular dysfunction	2/58	41/4277	0.1059493933784595	n.a	2	1.0	ALDOB, PC
C0011581	XX	e	Depressivity	3/58	85/4277	0.1073690460606683	n.a	3	1.0	HTT, MAPT, SNCA
C4025889	XX	e	Abnormality of renal glomerulus morphology	3/58	86/4277	0.1102240361143423	n.a	3	1.0	APOE, CFH, PRKCD
C4531240	XX	e	Abnormal renal corpuscle morphology	3/58	86/4277	0.1102240361143423	n.a	3	1.0	APOE, CFH, PRKCD
C0238621	XX	e	Aminoaciduria	3/58	86/4277	0.1102240361143423	n.a	3	1.0	ALDOB, ARG1, MTHFR
C0018989	XX	e	Hemiparesis	2/58	43/4277	0.1147227580120132	n.a	2	1.0	CFH, TTR
C0007134	XX	e	Renal cell carcinoma	2/58	43/4277	0.1147227580120132	n.a	2	1.0	BAX, IFNG
C4025663	XX	e	Abnormality of tibia morphology	2/58	43/4277	0.1147227580120132	n.a	2	1.0	AIFM1, PCYT1A
C0035304	XX	e	Retinal degeneration	4/58	138/4277	0.1159694609530726	n.a	4	1.0	APOE, CFH, CP, TUBB4B
C0266463	XX	e	Lissencephaly	3/58	88/4277	0.1160223672611872	n.a	3	1.0	ACTB, PRKDC, TUBA1A
C4025650	XX	e	Abnormality of lipid metabolism	4/58	139/4277	0.1182509465076674	n.a	4	1.0	ALB, CFH, PPARG, PYGL
C4021755	XX	e	Abnormality of midbrain morphology	2/58	44/4277	0.1191783848412954	n.a	2	1.0	MAPT, PRKN
C4022603	XX	e	Abnormal vascular physiology	3/58	90/4277	0.1219351569479901	n.a	3	1.0	APP, MTHFR, NOTCH1
C1844383	XX	e	Recurrent bacterial infections	3/58	90/4277	0.1219351569479901	n.a	3	1.0	CFH, PNP, PSEN1
C0578878	XX	e	Inflammation of the large intestine	2/58	45/4277	0.1236773148636234	n.a	2	1.0	ABCB1, IL6
C0027066	XX	e	Myoclonus	4/58	142/4277	0.1252139854061514	n.a	4	1.0	APOE, DHFR, PSEN1, SNCA
C0001125	XX	e	Lactic acidosis	4/58	142/4277	0.1252139854061514	n.a	4	1.0	ALDOB, DLAT, HADHA, PC
C4022755	XX	e	Functional abnormality of the gastrointestinal tract	10/58	450/4277	0.1256078228787215	n.a	10	1.0	ABCB1, ACTB, ALDOB, APOE, HTT, IL6, MAPT, PSEN1, SNCA, VWF
C1860236	XX	e	Irregular hyperpigmentation	3/58	92/4277	0.1279583603383483	n.a	3	1.0	IFNG, IL6, MMP2
C4022950	XX	e	Abnormal homeostasis	16/58	819/4277	0.127977924150515	n.a	16	1.0	AIFM1, ALDOB, APOA1, CFH, CP, DLAT, FGA, HADHA, IFNG, IL6, NOS3, NR1H4, PC, PPARG, PRKCD, PYGL
C0013604	XX	e	Edema	6/58	232/4277	0.1306881633625519	n.a	6	1.0	APOA1, FGA, HADHA, IL6, NOS3, NR1H4
C0037317	XX	e	Sleep disturbance	4/58	145/4277	0.1323506201156258	n.a	4	1.0	APOE, HTT, MAPT, SNCA
C4021976	XX	e	Abnormality of the lymphatic system	8/58	337/4277	0.1324600643210599	n.a	8	1.0	APOA1, APOE, FGA, IFNG, NOTCH1, PNP, PRKCD, TALDO1
C4025660	XX	e	Abnormality of the ankles	2/58	47/4277	0.1327973677030747	n.a	2	1.0	HTT, MMP2
C0021655	XX	e	Insulin resistance	2/58	47/4277	0.1327973677030747	n.a	2	1.0	IL6, PPARG
C1851310	XX	e	Aplasia/hypoplasia of the femur	2/58	47/4277	0.1327973677030747	n.a	2	1.0	AIFM1, MMP9
C4023011	XX	e	Craniofacial dystonia	2/58	47/4277	0.1327973677030747	n.a	2	1.0	CP, MAPT
C4024659	XX	e	Aplasia/Hypoplasia involving the vertebral column	2/58	47/4277	0.1327973677030747	n.a	2	1.0	AIFM1, CCL2
C0009812	XX	e	Constitutional symptom	8/58	341/4277	0.1346104045960435	n.a	8	1.0	ALB, ALDOB, CCL2, HADHA, IL6, MAT1A, MMP2, TTR
C0020557	XX	e	Hypertriglyceridemia	2/58	48/4277	0.1374147388245379	n.a	2	1.0	PPARG, PYGL
C1853193	XX	e	Recurrent skin infections	2/58	48/4277	0.1374147388245379	n.a	2	1.0	NFE2L2, PSEN1
C0011860	XX	e	Type 2 diabetes mellitus	2/58	48/4277	0.1374147388245379	n.a	2	1.0	IL6, PPARG
C0266292	XX	e	Abnormality of the kidney	13/58	656/4277	0.141118252111419	n.a	13	1.0	AGT, ALDOB, APOA1, APOE, BAX, CFH, FGA, GSN, HMOX1, IFNG, IL6, PC, PRKCD
C0016522	XX	e	Patent foramen ovale	2/58	49/4277	0.1420679082020535	n.a	2	1.0	NOTCH1, TALDO1
C4025621	XX	e	Abnormality of the femoral neck	3/58	97/4277	0.1434726348396386	n.a	3	1.0	AIFM1, MMP9, PCYT1A
C4551583	XX	e	Cerebral cortical atrophy	3/58	97/4277	0.1434726348396386	n.a	3	1.0	APOE, GRN, PSEN1
C0375206	XX	e	Hemiplegia/hemiparesis	2/58	50/4277	0.1467551032375302	n.a	2	1.0	CFH, TTR
C0149630	XX	e	Bicuspid aortic valve	2/58	50/4277	0.1467551032375302	n.a	2	1.0	ACTB, NOTCH1
C4025707	XX	e	Abnormal motor neuron morphology	2/58	50/4277	0.1467551032375302	n.a	2	1.0	MAPT, PSEN1
C4022739	XX	e	Abnormal neuron morphology	2/58	50/4277	0.1467551032375302	n.a	2	1.0	MAPT, PSEN1
C0743332	XX	e	Focal dystonia	2/58	50/4277	0.1467551032375302	n.a	2	1.0	CP, MAPT
C0026267	XX	e	Mitral valve prolapse	2/58	50/4277	0.1467551032375302	n.a	2	1.0	MMP2, VWF
C4023024	XX	e	Abnormality of multiple cell lineages in the bone marrow	3/58	99/4277	0.1498500718758506	n.a	3	1.0	DHFR, IFNG, TALDO1
C4024597	XX	e	Aplasia/Hypoplasia involving the pelvis	2/58	51/4277	0.1514745912941167	n.a	2	1.0	AIFM1, MMP9
C4531034	XX	e	Abnormal aortic valve cusp morphology	2/58	51/4277	0.1514745912941167	n.a	2	1.0	ACTB, NOTCH1
CN218435	XX	e	Spinal dysraphism	2/58	52/4277	0.1562246789667322	n.a	2	1.0	CCL2, MTHFR
C0009024	XX	e	Clonus	2/58	52/4277	0.1562246789667322	n.a	2	1.0	HTT, PC
C3665386	XX	e	Visual loss	3/58	101/4277	0.1563194642550384	n.a	3	1.0	APOE, CFH, PCYT1A
C0009421	XX	e	Coma	2/58	53/4277	0.161003711365771	n.a	2	1.0	ALDOB, CFH
C4531030	XX	e	Abnormal neural tube morphology	2/58	53/4277	0.161003711365771	n.a	2	1.0	CCL2, MTHFR
C0027794	XX	e	Neural tube defect	2/58	53/4277	0.161003711365771	n.a	2	1.0	CCL2, MTHFR
C4022805	XX	e	Abnormal inflammatory response	11/58	543/4277	0.1617664943753534	n.a	11	1.0	ABCB1, APOA1, FGA, IFNG, IL6, NFE2L2, PCYT1A, PNP, PRKCD, PRKDC, PSEN1
C4022803	XX	e	Increased inflammatory response	11/58	543/4277	0.1617664943753534	n.a	11	1.0	ABCB1, APOA1, FGA, IFNG, IL6, NFE2L2, PCYT1A, PNP, PRKCD, PRKDC, PSEN1
C0040822	XX	e	Tremor	6/58	260/4277	0.1637906908022896	n.a	6	1.0	HTT, MAPT, PNP, PRKN, SNCA, TTR
C0282607	XX	e	Vascular neoplasm	2/58	54/4277	0.1658100714193192	n.a	2	1.0	IFNG, NOTCH1
C0243050	XX	e	Abnormality of the cardiovascular system	26/58	1536/4277	0.1686935287445563	n.a	26	1.0	ACTB, AGT, ALB, ALDOB, APOA1, APOE, APP, CFH, FGA, GSN, HADHA, IFNG, IL6, MMP2, MTHFR, NFE2L2, NOS3, NOTCH1, PNP, PPARG, PRKCD, PSEN1, SNCA, TALDO1, TTR, VWF
C0000737	XX	e	Abdominal pain	2/58	55/4277	0.1706421791774793	n.a	2	1.0	ALDOB, IL6
C4021634	XX	e	Abnormality of bone marrow cell morphology	3/58	106/4277	0.1728682787412498	n.a	3	1.0	DHFR, IFNG, TALDO1
C2364164	XX	e	Abnormality of fluid regulation	6/58	267/4277	0.1742584305811714	n.a	6	1.0	APOA1, FGA, HADHA, IL6, NOS3, NR1H4
C1535950	XX	e	Gastrointestinal inflammation	2/58	56/4277	0.1754984911371696	n.a	2	1.0	ABCB1, IL6
C0042065	XX	e	Neoplasm of the genitourinary tract	3/58	107/4277	0.176238290943559	n.a	3	1.0	BAX, IFNG, PRKN
C0079924	XX	e	Oligohydramnios	2/58	57/4277	0.1803774995639241	n.a	2	1.0	AGT, TALDO1
C4293699	XX	e	Abnormal vascular morphology	9/58	433/4277	0.1840986876921828	n.a	9	1.0	ACTB, APP, IFNG, IL6, NOTCH1, PNP, PPARG, PRKCD, TALDO1
C3164445	XX	e	Abnormality of the aortic valve	2/58	58/4277	0.185277731842347	n.a	2	1.0	ACTB, NOTCH1
C4023185	XX	e	Neoplasm by anatomical site	9/58	439/4277	0.18857628681729	n.a	9	1.0	BAX, CCL2, IFNG, IL1B, IL6, NOTCH1, PNP, PRKCD, PRKN
C0235991	XX	e	Small for gestational age	3/58	111/4277	0.1899022444948837	n.a	3	1.0	ACTB, HADHA, TALDO1
C0023518	XX	e	Leukocytosis	2/58	59/4277	0.1901977498256144	n.a	2	1.0	IFNG, PRKCD
C0575158	XX	e	Kyphoscoliosis	3/58	112/4277	0.1933616937592128	n.a	3	1.0	ACTB, MAPT, MMP2
C4023580	XX	e	Abnormality of renal cortex morphology	3/58	113/4277	0.1968375284977085	n.a	3	1.0	APOE, CFH, PRKCD
C4531101	XX	e	Impairment in personality functioning	5/58	203/4277	0.1974438478545169	n.a	5	1.0	GRN, HTT, MAPT, PSEN1, SNCA
C4023641	XX	e	Abnormality of the upper urinary tract	13/58	673/4277	0.2005669562304137	n.a	13	1.0	AGT, ALDOB, APOA1, APOE, BAX, CFH, FGA, GSN, HMOX1, IFNG, IL6, PC, PRKCD
C0024437	XX	e	Macular degeneration	2/58	62/4277	0.2050626402541425	n.a	2	1.0	APOE, CFH
C4025622	XX	e	Abnormality of the femoral neck or head region	3/58	116/4277	0.2073584037615976	n.a	3	1.0	AIFM1, MMP9, PCYT1A
C3875321	XX	e	Inflammatory abnormality of the skin	5/58	211/4277	0.2081095990919959	n.a	5	1.0	APOA1, FGA, IFNG, NFE2L2, PSEN1
C4280730	XX	e	Abnormality of pulmonary circulation	2/58	63/4277	0.2100480868818681	n.a	2	1.0	MTHFR, NOTCH1
C0035300	XX	e	Abnormal retinal morphology	10/58	496/4277	0.2104035798707236	n.a	10	1.0	ACTB, AHR, APOE, CFH, CP, GRN, HADHA, IFNG, PCYT1A, TUBB4B
C4020755	XX	e	Abnormality of fontanelles	3/58	117/4277	0.2108948515306607	n.a	3	1.0	AGT, MMP2, TALDO1
C0029882	XX	e	Otitis media	3/58	118/4277	0.2144452336695518	n.a	3	1.0	PCYT1A, PNP, PRKCD
C0015967	XX	e	Fever	3/58	118/4277	0.2144452336695518	n.a	3	1.0	CFH, IFNG, PRKCD
C0026106	XX	e	Intellectual disability, mild	3/58	119/4277	0.2180090683538532	n.a	3	1.0	ACTB, DLAT, NFE2L2
C0011168	XX	e	Dysphagia	5/58	218/4277	0.2186904660250102	n.a	5	1.0	APOE, HTT, MAPT, PSEN1, SNCA
C0231686	XX	e	Unsteady gait	2/58	65/4277	0.2200570059948915	n.a	2	1.0	AIFM1, HTT
C0008489	XX	e	Chorea	3/58	120/4277	0.2215858767978429	n.a	3	1.0	CP, DLAT, HTT
C4551687	XX	e	Soft tissue sarcoma	2/58	66/4277	0.2250780200098047	n.a	2	1.0	BAX, IFNG
C0151313	XX	e	Sensory neuropathy	2/58	67/4277	0.2301084811628515	n.a	2	1.0	AIFM1, MTHFR
C4023354	XX	e	Abnormality of central motor function	20/58	1156/4277	0.2326824503044008	n.a	20	1.0	AIFM1, APOE, APP, ARG1, ATG5, CFH, CP, DHFR, DLAT, GRN, HTT, MAPT, MTHFR, NOS3, PNP, PRKN, PSEN1, SNCA, TTR, TUBA1A
C0022665	XX	e	Renal neoplasm	2/58	68/4277	0.2351472340838854	n.a	2	1.0	BAX, IFNG
C4025656	XX	e	Abnormality of cholesterol metabolism	2/58	68/4277	0.2351472340838854	n.a	2	1.0	PPARG, PYGL
C0575081	XX	e	Gait disturbance	11/58	577/4277	0.2422227686193949	n.a	11	1.0	AIFM1, APOE, ARG1, HTT, MAPT, MMP2, MTHFR, PRKN, PSEN1, SNCA, SORD
C4520679	XX	e	Abnormal macular morphology	3/58	126/4277	0.2432927716642035	n.a	3	1.0	APOE, CFH, PCYT1A
C4021734	XX	e	Abnormality of mitochondrial metabolism	2/58	70/4277	0.2452451360052874	n.a	2	1.0	DLAT, HADHA
C0679347	XX	e	Genital neoplasm	2/58	70/4277	0.2452451360052874	n.a	2	1.0	BAX, PRKN
C2711227	XX	e	Hepatic steatosis	2/58	70/4277	0.2452451360052874	n.a	2	1.0	ALDOB, PPARG
C4025715	XX	e	Abnormality of the large intestine	3/58	127/4277	0.2469472655930971	n.a	3	1.0	ABCB1, BAX, IL6
C4023353	XX	e	Abnormality of coordination	11/58	589/4277	0.2487978480655433	n.a	11	1.0	ARG1, ATG5, CP, DHFR, DLAT, GRN, HTT, MTHFR, PNP, TTR, TUBA1A
C4021762	XX	e	Abnormality of the cerebrum	22/58	1304/4277	0.2500019297026941	n.a	22	1.0	ACTB, AGT, AIFM1, APOE, APP, CCL2, DHFR, DLAT, GRN, HTT, IFNG, IGF1, MAPT, MTHFR, NFE2L2, NOS3, PC, PRKDC, PRKN, PSEN1, SNCA, TUBA1A
C4020967	XX	e	Abnormality of forebrain morphology	22/58	1310/4277	0.2509936795168888	n.a	22	1.0	ACTB, AGT, AIFM1, APOE, APP, CCL2, DHFR, DLAT, GRN, HTT, IFNG, IGF1, MAPT, MTHFR, NFE2L2, NOS3, PC, PRKDC, PRKN, PSEN1, SNCA, TUBA1A
C4023527	XX	e	Abnormality of skin physiology	5/58	238/4277	0.2544919123765673	n.a	5	1.0	APOA1, FGA, IFNG, NFE2L2, PSEN1
C4025875	XX	e	Abnormality of the anterior fontanelle	2/58	72/4277	0.255363044276642	n.a	2	1.0	MMP2, TALDO1
C4025836	XX	e	Abnormality of the choroid	2/58	72/4277	0.255363044276642	n.a	2	1.0	ACTB, APOE
C0042024	XX	e	Urinary incontinence	2/58	73/4277	0.2604269062579732	n.a	2	1.0	CCL2, TTR
C0410528	XX	e	Skeletal dysplasia	2/58	73/4277	0.2604269062579732	n.a	2	1.0	AIFM1, PCYT1A
C1837257	XX	e	Lipid accumulation in hepatocytes	2/58	73/4277	0.2604269062579732	n.a	2	1.0	ALDOB, PPARG
C4476996	XX	e	Storage in hepatocytes	2/58	73/4277	0.2604269062579732	n.a	2	1.0	ALDOB, PPARG
C4476938	XX	e	Impairment of activities of daily living	2/58	74/4277	0.2654927088750518	n.a	2	1.0	CCL2, TTR
C4476943	XX	e	Impaired continence	2/58	74/4277	0.2654927088750518	n.a	2	1.0	CCL2, TTR
C0042076	XX	e	Urinary tract neoplasm	2/58	74/4277	0.2654927088750518	n.a	2	1.0	BAX, IFNG
C4021746	XX	e	Abnormality of the ilium	2/58	74/4277	0.2654927088750518	n.a	2	1.0	AIFM1, PCYT1A
C0241657	XX	e	Abnormality of the vasculature	17/58	980/4277	0.2698279159207097	n.a	17	1.0	ACTB, APOA1, APOE, APP, CFH, FGA, IFNG, IL6, MTHFR, NOS3, NOTCH1, PNP, PPARG, PRKCD, TALDO1, TTR, VWF
C4021818	XX	e	Abnormality of the ovary	2/58	75/4277	0.2705594856270181	n.a	2	1.0	PPARG, PRKN
C4023042	XX	e	Abnormality of the mitochondrion	2/58	75/4277	0.2705594856270181	n.a	2	1.0	DLAT, HADHA
C1844806	XX	e	Decreased body weight	12/58	659/4277	0.2705658131806734	n.a	12	1.0	ACTB, ALDOB, HADHA, IFNG, IGF1, IL6, NFE2L2, NR1H4, PNP, PYGL, SNCA, TALDO1
C4021085	XX	e	Abnormality of brain morphology	27/58	1666/4277	0.2779097008868308	n.a	27	1.0	ACTB, AGT, AIFM1, APOE, APP, ARG1, ATG5, CCL2, DHFR, DLAT, GRN, HTT, IFNG, IGF1, IL6, MAPT, MTHFR, NFE2L2, NOS3, PC, PNP, PRKDC, PRKN, PSEN1, SNCA, TTR, TUBA1A
C0027651	XX	e	Neoplasm	9/58	464/4277	0.2827545555841448	n.a	9	1.0	BAX, CCL2, IFNG, IL1B, IL6, NOTCH1, PNP, PRKCD, PRKN
C4073187	XX	e	Abnormality of the peripheral nervous system	4/58	169/4277	0.2899334006293585	n.a	4	1.0	MAPT, SNCA, SORD, TTR
C1261473	XX	e	Sarcoma	2/58	79/4277	0.290817867527137	n.a	2	1.0	BAX, IFNG
C1263857	XX	e	Peripheral axonal neuropathy	2/58	80/4277	0.2958758744450397	n.a	2	1.0	AIFM1, TTR
C0001122	XX	e	Acidosis	6/58	300/4277	0.2967419420270025	n.a	6	1.0	AIFM1, ALDOB, DLAT, HADHA, IL6, PC
C4021152	XX	e	Abnormal CNS myelination	4/58	174/4277	0.2975178976657765	n.a	4	1.0	AIFM1, MAT1A, PC, PRKDC
C3806583	XX	e	Functional abnormality of the bladder	4/58	177/4277	0.3024256795444098	n.a	4	1.0	CCL2, MAPT, SNCA, TTR
C0266623	XX	e	Abnormality of the neck	6/58	305/4277	0.3034257634972324	n.a	6	1.0	ACTB, AIFM1, CP, MAPT, PPARG, TALDO1
C0037199	XX	e	Sinusitis	2/58	82/4277	0.3059781351994854	n.a	2	1.0	PNP, PRKCD
C0026650	XX	e	Movement disorder	20/58	1214/4277	0.3061837611512241	n.a	20	1.0	ACTB, AIFM1, APOE, ARG1, CP, DHFR, DLAT, GRN, HTT, MAPT, MAT1A, MMP2, MTHFR, PC, PNP, PRKN, PSEN1, SNCA, SORD, TTR
C0035078	XX	e	Renal insufficiency	4/58	180/4277	0.3075852121109226	n.a	4	1.0	APOE, CFH, GSN, PRKCD
C4021816	XX	e	Abnormality of the gingiva	2/58	83/4277	0.3110208077089965	n.a	2	1.0	IFNG, MMP2
C0037286	XX	e	Neoplasm of the skin	2/58	86/4277	0.3261059541407308	n.a	2	1.0	IFNG, IL6
C0011991	XX	e	Diarrhea	4/58	191/4277	0.3284526080299546	n.a	4	1.0	CFH, IFNG, IL6, TTR
C0149727	XX	e	Abnormality of the lymph nodes	2/58	87/4277	0.3311176555767872	n.a	2	1.0	PNP, PRKCD
C0233514	XX	e	Behavioral abnormality	15/58	893/4277	0.3319710519753309	n.a	15	1.0	AIFM1, APOE, ARG1, DLAT, GRN, HTT, IFNG, IGF1, IL6, MAPT, MTHFR, PC, PNP, PSEN1, SNCA
C0747085	XX	e	Recurrent otitis media	2/58	88/4277	0.3361198715862886	n.a	2	1.0	PCYT1A, PRKCD
C0019572	XX	e	Hirsutism	2/58	88/4277	0.3361198715862886	n.a	2	1.0	MMP2, PPARG
C4049796	XX	e	Abnormality of cardiovascular system morphology	16/58	938/4277	0.3364661015483229	n.a	16	1.0	ACTB, APP, GSN, HADHA, IFNG, IL6, MMP2, NFE2L2, NOTCH1, PNP, PPARG, PRKCD, PSEN1, TALDO1, TTR, VWF
C1561643	XX	e	Chronic kidney disease	2/58	90/4277	0.3460932349631372	n.a	2	1.0	CFH, PRKCD
C0149632	XX	e	Abnormality of the bladder	4/58	200/4277	0.347494916654877	n.a	4	1.0	CCL2, MAPT, SNCA, TTR
C0030193	XX	e	Pain	4/58	202/4277	0.3519327168461471	n.a	4	1.0	ALDOB, HADHA, IL6, MMP2
C0151889	XX	e	Hyperreflexia	7/58	380/4277	0.3531823788610888	n.a	7	1.0	APOE, DLAT, HTT, MAT1A, PC, PRKN, PSEN1
C4022810	XX	e	Abnormality of nervous system morphology	31/58	2016/4277	0.3557507773602169	n.a	31	1.0	ACTB, AGT, AIFM1, APOE, APP, ARG1, ATG5, CCL2, DHFR, DLAT, GRN, GSN, HADHA, HTT, IFNG, IGF1, IL6, MAPT, MAT1A, MTHFR, NFE2L2, NOS3, PC, PNP, PRKDC, PRKN, PSEN1, SNCA, SORD, TTR, TUBA1A
C0232744	XX	e	Decreased liver function	2/58	93/4277	0.3609663015338367	n.a	2	1.0	NR1H4, TALDO1
C4476621	XX	e	Abnormality of hepatobiliary system physiology	2/58	93/4277	0.3609663015338367	n.a	2	1.0	NR1H4, TALDO1
C1844704	XX	e	Platyspondyly	2/58	93/4277	0.3609663015338367	n.a	2	1.0	AIFM1, PCYT1A
C1852464	XX	e	Abnormality of the cervical spine	4/58	206/4277	0.3610089007517233	n.a	4	1.0	ACTB, AIFM1, MMP2, TALDO1
C4025699	XX	e	Abnormality of the stomach	2/58	94/4277	0.3658984406437267	n.a	2	1.0	BAX, IL1B
C0037268	XX	e	Abnormality of the skin	19/58	1167/4277	0.3731569625361472	n.a	19	1.0	ABCC2, ALDOB, APOA1, CCL2, CFH, DHFR, FGA, GSN, IFNG, IL6, MMP2, NFE2L2, NOTCH1, NR1H4, PPARG, PRKCD, PSEN1, TALDO1, VWF
C4025873	XX	e	Abnormality of the paranasal sinuses	2/58	96/4277	0.3757210698920942	n.a	2	1.0	PNP, PRKCD
C0520966	XX	e	Incoordination	2/58	97/4277	0.3806105106282651	n.a	2	1.0	ARG1, MTHFR
C0581381	XX	e	Recurrent upper respiratory tract infections	2/58	97/4277	0.3806105106282651	n.a	2	1.0	PNP, PRKCD
C4023588	XX	e	Abnormality of the gastrointestinal tract	13/58	759/4277	0.3851440487285401	n.a	13	1.0	ABCB1, ACTB, ALDOB, APOE, BAX, HTT, IL1B, IL6, MAPT, NOTCH1, PSEN1, SNCA, VWF
C0456132	XX	e	Large fontanelles	2/58	98/4277	0.3854846962334324	n.a	2	1.0	AGT, TALDO1
C0580550	XX	e	Abnormal lymphocyte count	2/58	98/4277	0.3854846962334324	n.a	2	1.0	PNP, PRKCD
C0017185	XX	e	Neoplasm of the gastrointestinal tract	2/58	99/4277	0.3903431420953047	n.a	2	1.0	BAX, IL1B
C0022821	XX	e	Kyphosis	5/58	257/4277	0.3954942973540198	n.a	5	1.0	ACTB, AIFM1, HTT, MAPT, MMP2
C4023792	XX	e	Paraplegia/paraparesis	2/58	101/4277	0.4000109530961453	n.a	2	1.0	ARG1, TTR
C4023616	XX	e	Abnormality of immune system physiology	14/58	845/4277	0.4063848233370223	n.a	14	1.0	ABCB1, APOA1, CFH, FGA, IFNG, IL6, MMP2, NFE2L2, PCYT1A, PNP, PRKCD, PRKDC, PSEN1, TALDO1
C0015544	XX	e	Failure to thrive	9/58	511/4277	0.4119192269388462	n.a	9	1.0	ACTB, ALDOB, HADHA, IFNG, NFE2L2, NR1H4, PNP, PYGL, TALDO1
C4021765	XX	e	Morphological abnormality of the central nervous system	28/58	1837/4277	0.4252745105084501	n.a	28	1.0	ACTB, AGT, AIFM1, APOE, APP, ARG1, ATG5, CCL2, DHFR, DLAT, GRN, HTT, IFNG, IGF1, IL6, MAPT, MAT1A, MTHFR, NFE2L2, NOS3, PC, PNP, PRKDC, PRKN, PSEN1, SNCA, TTR, TUBA1A
C0007758	XX	e	Cerebellar ataxia	9/58	531/4277	0.4254133762806708	n.a	9	1.0	ATG5, CP, DHFR, DLAT, GRN, HTT, PNP, TTR, TUBA1A
C0162834	XX	e	Hyperpigmentation of the skin	3/58	132/4277	0.4256566570488533	n.a	3	1.0	IFNG, IL6, MMP2
C0234428	XX	e	Reduced consciousness/confusion	3/58	136/4277	0.431719484198518	n.a	3	1.0	ALDOB, CFH, SNCA
C0011849	XX	e	Diabetes mellitus	3/58	143/4277	0.4436465666550868	n.a	3	1.0	CP, IL6, PPARG
C4021753	XX	e	Abnormality of the immune system	17/58	1070/4277	0.4468129988889448	n.a	17	1.0	ABCB1, APOA1, APOE, BAX, CFH, FGA, IFNG, IL6, MMP2, NFE2L2, NOTCH1, PCYT1A, PNP, PRKCD, PRKDC, PSEN1, TALDO1
C0013362	XX	e	Dysarthria	6/58	325/4277	0.447651605449709	n.a	6	1.0	APOE, CP, MAPT, PSEN1, SNCA, TTR
C0001118	XX	e	Abnormality of acid-base homeostasis	6/58	326/4277	0.4484216252279008	n.a	6	1.0	AIFM1, ALDOB, DLAT, HADHA, IL6, PC
C0031117	XX	e	Peripheral neuropathy	6/58	334/4277	0.4552099036128589	n.a	6	1.0	AIFM1, GSN, HADHA, MTHFR, SORD, TTR
C0235946	XX	e	Cerebral atrophy	6/58	344/4277	0.4651660021096675	n.a	6	1.0	APOE, DHFR, GRN, HTT, PRKN, PSEN1
C0235401	XX	e	Abnormal glucose tolerance	3/58	155/4277	0.4673250502058043	n.a	3	1.0	CP, IL6, PPARG
C4024898	XX	e	Atrophy/Degeneration affecting the cerebrum	6/58	353/4277	0.4753889100655799	n.a	6	1.0	APOE, DHFR, GRN, HTT, PRKN, PSEN1
C4551584	XX	e	Brain atrophy	7/58	392/4277	0.4871083293204329	n.a	7	1.0	APOE, DHFR, GRN, HTT, PRKDC, PRKN, PSEN1
C4021750	XX	e	Abnormality of femur morphology	3/58	164/4277	0.4871539518987849	n.a	3	1.0	AIFM1, MMP9, PCYT1A
C4021832	XX	e	Abnormality of the calf	3/58	165/4277	0.4894437236865978	n.a	3	1.0	AIFM1, MMP9, PCYT1A
C1849242	XX	e	Abnormality of B cell physiology	3/58	167/4277	0.4940683013595879	n.a	3	1.0	NFE2L2, PNP, PRKCD
C1832160	XX	e	Abnormality of temperature regulation	3/58	170/4277	0.5011095864558874	n.a	3	1.0	CFH, IFNG, PRKCD
C4025357	XX	e	Abnormality of body weight	13/58	818/4277	0.5028600907146252	n.a	13	1.0	ACTB, ALDOB, HADHA, IFNG, IGF1, IL6, NFE2L2, NR1H4, PNP, PPARG, PYGL, SNCA, TALDO1
C1837658	XX	e	Delayed gross motor development	3/58	172/4277	0.5058672233387546	n.a	3	1.0	ATG5, DLAT, PNP
C4023412	XX	e	Abnormality of cranial sutures	3/58	175/4277	0.5130886713549341	n.a	3	1.0	AGT, AIFM1, MMP2
C4024899	XX	e	Atrophy/Degeneration affecting the central nervous system	8/58	466/4277	0.5210260154132527	n.a	8	1.0	APOE, DHFR, GRN, HTT, MAPT, PRKDC, PRKN, PSEN1
C4021157	XX	e	Generalized abnormality of skin	8/58	476/4277	0.5255043410902359	n.a	8	1.0	ABCC2, ALDOB, CFH, DHFR, NR1H4, PPARG, TALDO1, VWF
C1861141	XX	e	Abnormality of the middle ear	4/58	216/4277	0.536435790759098	n.a	4	1.0	AIFM1, PCYT1A, PNP, PRKCD
C0234132	XX	e	Abnormal pyramidal signs	4/58	218/4277	0.5384676919728004	n.a	4	1.0	APOE, HTT, MAPT, PSEN1
C4025876	XX	e	Abnormality of the fontanelles or cranial sutures	4/58	222/4277	0.542780480619198	n.a	4	1.0	AGT, AIFM1, MMP2, TALDO1
C4293692	XX	e	Abnormality of digestive system physiology	17/58	1106/4277	0.5471159085710847	n.a	17	1.0	ABCB1, ACTB, ALDOB, APOE, ARG1, CFH, DHFR, HTT, IFNG, IL6, MAPT, NR1H4, PSEN1, SNCA, TALDO1, TTR, VWF
C4023820	XX	e	Abnormality of the female genitalia	4/58	235/4277	0.5588567764131299	n.a	4	1.0	BAX, PPARG, PRKN, TALDO1
C0036572	XX	e	Seizures	18/58	1193/4277	0.5593129928699085	n.a	18	1.0	ACTB, AIFM1, ALDOB, APOE, ARG1, CFH, DHFR, GRN, HTT, IFNG, MTHFR, NOS3, NOTCH1, PC, PRKDC, PSEN1, TTR, TUBA1A
C0162819	XX	e	Vascular skin abnormality	4/58	244/4277	0.5715568054064225	n.a	4	1.0	CFH, PPARG, TALDO1, VWF
C0266470	XX	e	Congenital cerebellar hypoplasia	4/58	246/4277	0.5745265027617557	n.a	4	1.0	ATG5, DHFR, PRKDC, TUBA1A
C1834129	XX	e	Abnormal vertebral morphology	4/58	249/4277	0.5790713552340692	n.a	4	1.0	AIFM1, CCL2, MMP2, PCYT1A
C3279222	XX	e	Aplasia/Hypoplasia of the cerebellum	4/58	250/4277	0.5806092510130585	n.a	4	1.0	ATG5, DHFR, PRKDC, TUBA1A
C4023352	XX	e	Abnormality of higher mental function	25/58	1682/4277	0.5892046257396344	n.a	25	1.0	ACTB, AIFM1, ALDOB, APOE, APP, ARG1, ATG5, CFH, CP, DLAT, GRN, HTT, IFNG, IGF1, MAPT, MAT1A, MTHFR, NFE2L2, NOS3, PC, PNP, PSEN1, SNCA, TTR, TUBA1A
C4023679	XX	e	Abnormality of circulating protein level	5/58	289/4277	0.5925606316644015	n.a	5	1.0	AIFM1, ALB, CP, IFNG, PRKCD
C4025354	XX	e	Abnormality of the posterior segment of the globe	12/58	766/4277	0.6041755247185556	n.a	12	1.0	ACTB, AHR, AIFM1, APOE, CFH, CP, GRN, HADHA, IFNG, PCYT1A, TTR, TUBB4B
C4023612	XX	e	Abnormality of cellular immune system	5/58	305/4277	0.6048944261588405	n.a	5	1.0	APOE, BAX, IFNG, PNP, PRKCD
C0152009	XX	e	Abnormality of leukocytes	5/58	305/4277	0.6048944261588405	n.a	5	1.0	APOE, BAX, IFNG, PNP, PRKCD
C4023595	XX	e	Abnormality of cell physiology	5/58	312/4277	0.6113981582051711	n.a	5	1.0	DLAT, HADHA, NFE2L2, PNP, PRKCD
C4476724	XX	e	Abnormal cellular phenotype	5/58	320/4277	0.6195428497924271	n.a	5	1.0	DLAT, HADHA, NFE2L2, PNP, PRKCD
C0850826	XX	e	Localized skin lesion	6/58	363/4277	0.6314044901989608	n.a	6	1.0	CCL2, IFNG, IL6, MMP2, NOTCH1, PRKCD
C0270612	XX	e	Leukoencephalopathy	2/58	102/4277	0.6490842852582639	n.a	2	1.0	NFE2L2, PC
C0854107	XX	e	Subcutaneous hemorrhage	2/58	103/4277	0.6504818502551837	n.a	2	1.0	CFH, VWF
C0234533	XX	e	Generalized seizures	2/58	107/4277	0.6563460606866999	n.a	2	1.0	DHFR, GRN
C0008924	XX	e	Cleft upper lip	2/58	108/4277	0.6578756707712607	n.a	2	1.0	ACTB, IL1B
C0024433	XX	e	Wide mouth	2/58	110/4277	0.6610045524745986	n.a	2	1.0	ACTB, TALDO1
C4025750	XX	e	Abnormality of the nasopharynx	2/58	110/4277	0.6610045524745986	n.a	2	1.0	PNP, PRKCD
C0220981	XX	e	Metabolic acidosis	2/58	111/4277	0.6626020177714669	n.a	2	1.0	ALDOB, PC
C0021051	XX	e	Immunodeficiency	2/58	112/4277	0.6642203279983615	n.a	2	1.0	NFE2L2, PRKDC
C0221277	XX	e	Abnormality of lymphocytes	2/58	112/4277	0.6642203279983615	n.a	2	1.0	PNP, PRKCD
C4025838	XX	e	Abnormality of the pharynx	2/58	114/4277	0.6675160844795303	n.a	2	1.0	PNP, PRKCD
C4021615	XX	e	Abnormal metacarpal morphology	2/58	114/4277	0.6675160844795303	n.a	2	1.0	MMP2, PCYT1A
C4025830	XX	e	Peripheral axonal degeneration	2/58	114/4277	0.6675160844795303	n.a	2	1.0	AIFM1, TTR
C0018802	XX	e	Congestive heart failure	2/58	115/4277	0.6691918781748504	n.a	2	1.0	HADHA, PSEN1
C0262630	XX	e	Short attention span	2/58	117/4277	0.6725953020413014	n.a	2	1.0	IFNG, IGF1
C4048270	XX	e	Decreased antibody level in blood	2/58	117/4277	0.6725953020413014	n.a	2	1.0	NFE2L2, PRKCD
C0239998	XX	e	Recurrent infections	7/58	467/4277	0.675379592663893	n.a	7	1.0	CFH, NFE2L2, PCYT1A, PNP, PRKCD, PRKDC, PSEN1
C1840379	XX	e	Cerebellar vermis hypoplasia	2/58	120/4277	0.6778185754476854	n.a	2	1.0	PRKDC, TUBA1A
C4025761	XX	e	Abnormality of the integument	22/58	1503/4277	0.6787486395003708	n.a	22	1.0	ABCC2, ACTB, AIFM1, ALDOB, APOA1, APOE, CCL2, CFH, DHFR, FGA, GSN, IFNG, IL6, MMP2, NFE2L2, NOTCH1, NR1H4, PPARG, PRKCD, PSEN1, TALDO1, VWF
C4024297	XX	e	Abnormality of the hairline	2/58	123/4277	0.6831662041720744	n.a	2	1.0	ACTB, AIFM1
C0029456	XX	e	Osteoporosis	2/58	125/4277	0.6867912468726765	n.a	2	1.0	ALB, MMP2
C1855676	XX	e	Aplasia/Hypoplasia of the cerebellar vermis	2/58	125/4277	0.6867912468726765	n.a	2	1.0	PRKDC, TUBA1A
C4021785	XX	e	Abnormality of the metacarpal bones	2/58	127/4277	0.6904582277504903	n.a	2	1.0	MMP2, PCYT1A
C1836440	XX	e	Increased serum lactate	2/58	129/4277	0.6941622484011658	n.a	2	1.0	AIFM1, PC
C1836830	XX	e	Developmental regression	2/58	130/4277	0.6960266805854214	n.a	2	1.0	AIFM1, HTT
C1845847	XX	e	Coarse facial features	2/58	130/4277	0.6960266805854214	n.a	2	1.0	AIFM1, MMP2
C0036857	XX	e	Intellectual disability, severe	2/58	130/4277	0.6960266805854214	n.a	2	1.0	HTT, TUBA1A
C4321245	XX	e	Cleft lip	2/58	132/4277	0.6997775737509837	n.a	2	1.0	ACTB, IL1B
C0029453	XX	e	Osteopenia	2/58	133/4277	0.7016629490773145	n.a	2	1.0	IGF1, MMP2
C4025888	XX	e	Abnormality of the menstrual cycle	2/58	138/4277	0.7111685597694677	n.a	2	1.0	PPARG, VWF
CN002695	XX	e	Bowing of the legs	2/58	139/4277	0.7130820272266815	n.a	2	1.0	MMP9, PCYT1A
C0541764	XX	e	Delayed skeletal maturation	2/58	141/4277	0.7169176340566505	n.a	2	1.0	AIFM1, IGF1
C4023398	XX	e	Congenital abnormal hair pattern	2/58	142/4277	0.7188389065438294	n.a	2	1.0	ACTB, AIFM1
C4025712	XX	e	Abnormality of the cerebellar vermis	2/58	143/4277	0.720761932164154	n.a	2	1.0	PRKDC, TUBA1A
C1277241	XX	e	Delayed myelination	2/58	143/4277	0.720761932164154	n.a	2	1.0	AIFM1, DHFR
C4025900	XX	e	Abnormality of female internal genitalia	3/58	183/4277	0.7372781769295138	n.a	3	1.0	BAX, PPARG, PRKN
C4531142	XX	e	Abnormal lymphocyte physiology	3/58	183/4277	0.7372781769295138	n.a	3	1.0	NFE2L2, PNP, PRKCD
C0521525	XX	e	Short neck	3/58	185/4277	0.7387846441701093	n.a	3	1.0	ACTB, AIFM1, TALDO1
C3150510	XX	e	Abnormality of humoral immunity	3/58	188/4277	0.7411484402863115	n.a	3	1.0	CFH, NFE2L2, PRKCD
C1856019	XX	e	Abnormal cortical gyration	3/58	189/4277	0.7419629339195177	n.a	3	1.0	ACTB, PRKDC, TUBA1A
C0266781	XX	e	Abnormality of the amniotic fluid	3/58	189/4277	0.7419629339195177	n.a	3	1.0	AGT, HADHA, TALDO1
C1839326	XX	e	Abnormal form of the vertebral bodies	3/58	196/4277	0.7480063715386792	n.a	3	1.0	AIFM1, CCL2, PCYT1A
C0424295	XX	e	Hyperactivity	3/58	196/4277	0.7480063715386792	n.a	3	1.0	ARG1, IFNG, IGF1
C0578038	XX	e	Thin vermilion border	3/58	198/4277	0.7498345137802167	n.a	3	1.0	ACTB, PRKDC, TALDO1
C0478012	XX	e	Congenital malformation of the great arteries	3/58	200/4277	0.7517037158032729	n.a	3	1.0	ACTB, NOTCH1, TALDO1
C4021205	XX	e	Abnormal systemic arterial morphology	3/58	204/4277	0.7555568374808487	n.a	3	1.0	APP, PPARG, TALDO1
C4023528	XX	e	Abnormality of skin morphology	15/58	1020/4277	0.7562841778263565	n.a	15	1.0	ABCC2, ALDOB, CCL2, CFH, DHFR, GSN, IFNG, IL6, MMP2, NOTCH1, NR1H4, PPARG, PRKCD, TALDO1, VWF
C4025109	XX	e	Abnormal hand morphology	3/58	206/4277	0.7575366360032021	n.a	3	1.0	AIFM1, PCYT1A, PRKDC
C4025824	XX	e	Abnormal internal genitalia	3/58	212/4277	0.7636651839199862	n.a	3	1.0	BAX, PPARG, PRKN
C1386048	XX	e	Intrauterine growth retardation	4/58	253/4277	0.7754807324732365	n.a	4	1.0	IGF1, NOS3, PRKDC, TALDO1
C0878544	XX	e	Cardiomyopathy	4/58	266/4277	0.7817400651289933	n.a	4	1.0	GSN, HADHA, PSEN1, TTR
C3806482	XX	e	Recurrent respiratory infections	4/58	269/4277	0.7834055799157373	n.a	4	1.0	NFE2L2, PNP, PRKCD, PRKDC
C4025758	XX	e	Abnormal myocardium morphology	4/58	272/4277	0.7851458891795592	n.a	4	1.0	GSN, HADHA, PSEN1, TTR
C4020949	XX	e	Abnormal emotion/affect behavior	4/58	272/4277	0.7851458891795592	n.a	4	1.0	ARG1, GRN, MAPT, PSEN1
C4476878	XX	e	Abnormal morphology of the great vessels	4/58	286/4277	0.7941469613383495	n.a	4	1.0	ACTB, NOTCH1, PRKCD, TALDO1
C1857704	XX	e	Abnormal myelination	5/58	324/4277	0.800290859522788	n.a	5	1.0	AIFM1, DHFR, MAT1A, PC, PRKDC
C4476684	XX	e	Abnormality of esophagus physiology	5/58	330/4277	0.8020494923082422	n.a	5	1.0	APOE, HTT, MAPT, PSEN1, SNCA
C4025797	XX	e	Abnormality of prenatal development or birth	5/58	358/4277	0.8135514937496761	n.a	5	1.0	AGT, HADHA, NOS3, PPARG, TALDO1
C4025831	XX	e	Abnormal peripheral nervous system morphology	7/58	496/4277	0.8370812807632954	n.a	7	1.0	AIFM1, GSN, HADHA, MAT1A, MTHFR, SORD, TTR
C3665347	XX	e	Visual impairment	8/58	564/4277	0.8452943167701248	n.a	8	1.0	AHR, APOE, CFH, GRN, PCYT1A, PRKDC, TTR, TUBB4B
C4025846	XX	e	Abnormality of vision	9/58	633/4277	0.8523256898136982	n.a	9	1.0	AHR, APOE, CFH, GRN, MAPT, PCYT1A, PRKDC, TTR, TUBB4B
C4025804	XX	e	Abnormality of the fundus	11/58	762/4277	0.862520326504628	n.a	11	1.0	ACTB, AHR, AIFM1, APOE, CFH, CP, GRN, HADHA, IFNG, PCYT1A, TUBB4B
C4293691	XX	e	Abnormality of digestive system morphology	6/58	435/4277	1.0	n.a	6	1.0	ABCB1, BAX, IL1B, IL6, NOTCH1, VWF
C4021073	XX	e	Morphological abnormality of the gastrointestinal tract	6/58	435/4277	1.0	n.a	6	1.0	ABCB1, BAX, IL1B, IL6, NOTCH1, VWF
C1839042	XX	e	Upper motor neuron dysfunction	10/58	737/4277	1.0	n.a	10	1.0	AIFM1, APOE, ARG1, CFH, HTT, MAPT, PNP, PSEN1, TTR, TUBA1A
C0042963	XX	e	Vomiting	2/58	145/4277	1.0	n.a	2	1.0	ALDOB, ARG1
C4073120	XX	p	Abnormal morphology of the ocular adnexa	3/58	845/4277	0.0025155113582236	n.a	3	0.3798414047355374	ACTB, AIFM1, TALDO1
C4023164	XX	p	Abnormality of skeletal physiology	4/58	867/4277	0.0079088990857768	n.a	4	0.7915142953476184	AIFM1, IGF1, MMP2, PCYT1A
C1387925	XX	p	Abnormality of limbs	10/58	1409/4277	0.0107184012275645	n.a	10	0.7934173845774494	ACTB, AIFM1, HTT, IGF1, MMP2, MMP9, NOTCH1, PCYT1A, PRKDC, SORD
C4023181	XX	p	Abnormality of muscle morphology	6/58	1032/4277	0.0125879356013977	n.a	6	0.7934173845774494	AIFM1, CP, HADHA, MAPT, MMP2, SORD
C4023216	XX	p	Abnormality of joint mobility	3/58	692/4277	0.018529418506353	n.a	3	1.0	AIFM1, MMP2, PCYT1A
C4025355	XX	p	Abnormality of the anterior segment of the globe	3/58	650/4277	0.0270233003620261	n.a	3	1.0	ACTB, GSN, MMP2
C0454644	XX	p	Delayed speech and language development	2/58	546/4277	0.0280676223243445	n.a	2	1.0	HTT, NFE2L2
C4023819	XX	p	Abnormality of the male genitalia	2/58	538/4277	0.0282007286148416	n.a	2	1.0	ACTB, PRKDC
C1096086	XX	p	Abnormality of the lower limb	7/58	1024/4277	0.0303520094944245	n.a	7	1.0	ACTB, AIFM1, HTT, MMP2, MMP9, PCYT1A, SORD
C4022737	XX	p	Neurodevelopmental abnormality	17/58	1859/4277	0.0323798724279315	n.a	17	1.0	ACTB, AIFM1, ALDOB, ARG1, ATG5, DHFR, DLAT, HADHA, HTT, IFNG, IGF1, MAT1A, MTHFR, NFE2L2, PC, PNP, TUBA1A
C4316870	XX	p	Abnormality of the eye	20/58	2072/4277	0.0344199644447759	n.a	20	1.0	ACTB, AHR, AIFM1, APOE, ATG5, CFH, CP, DLAT, GRN, GSN, HADHA, HTT, IFNG, IGF1, MAPT, MMP2, PCYT1A, PRKDC, TTR, TUBB4B
C0497202	XX	p	Abnormality of eye movement	6/58	943/4277	0.0364614025925776	n.a	6	1.0	ATG5, DLAT, HTT, MAPT, PCYT1A, TTR
C4025897	XX	p	Abnormality of male external genitalia	2/58	520/4277	0.0409474818715255	n.a	2	1.0	ACTB, PRKDC
C0016506	XX	p	Abnormality of the foot	5/58	831/4277	0.0429677676269871	n.a	5	1.0	ACTB, AIFM1, HTT, MMP2, SORD
C0235942	XX	p	Abnormality of the skull	13/58	1484/4277	0.0517621403175558	n.a	13	1.0	ACTB, AGT, AIFM1, DHFR, DLAT, IGF1, MMP2, MTHFR, PNP, PRKCD, PRKDC, TALDO1, TUBA1A
C0026827	XX	p	Muscular hypotonia	9/58	1156/4277	0.0522272785373118	n.a	9	1.0	ACTB, AIFM1, DHFR, DLAT, HADHA, HTT, PC, PNP, TUBA1A
C4021815	XX	p	Abnormality of the palate	3/58	586/4277	0.0551299398330507	n.a	3	1.0	ACTB, AIFM1, IL1B
C4025887	XX	p	Abnormality of the oral cavity	10/58	1242/4277	0.0570761355616835	n.a	10	1.0	ACTB, AIFM1, CAT, IFNG, IL1B, IL6, MMP2, PCYT1A, PRKDC, TALDO1
C0262444	XX	p	Abnormality of the dentition	2/58	493/4277	0.0593583619030018	n.a	2	1.0	MMP2, PCYT1A
C1846460	XX	p	Abnormality of the outer ear	4/58	689/4277	0.069347258729412	n.a	4	1.0	ACTB, AIFM1, PRKDC, TALDO1
C4025863	XX	p	Abnormality of the orbital region	6/58	875/4277	0.0693651467731829	n.a	6	1.0	ACTB, AIFM1, CP, IFNG, MAPT, TALDO1
C4022924	XX	p	Abnormal eye physiology	14/58	1520/4277	0.0730346901144965	n.a	14	1.0	ACTB, AHR, APOE, ATG5, CFH, DLAT, GRN, HTT, IGF1, MAPT, PCYT1A, PRKDC, TTR, TUBB4B
C4022925	XX	p	Abnormal eye morphology	15/58	1595/4277	0.0759655492460201	n.a	15	1.0	ACTB, AHR, AIFM1, APOE, CFH, CP, GRN, GSN, HADHA, IFNG, MMP2, PCYT1A, PRKDC, TTR, TUBB4B
C4025870	XX	p	Abnormality of the mandible	3/58	553/4277	0.0776546803034368	n.a	3	1.0	ACTB, IGF1, MMP2
C4280767	XX	p	Abnormal jaw morphology	3/58	576/4277	0.0781504663771913	n.a	3	1.0	ACTB, IGF1, MMP2
C4020900	XX	p	Abnormality of the upper limb	7/58	925/4277	0.0783471219470673	n.a	7	1.0	AIFM1, HTT, IGF1, MMP2, PCYT1A, PRKDC, SORD
C4023182	XX	p	Abnormality of muscle physiology	16/58	1663/4277	0.0791058425614801	n.a	16	1.0	ACTB, AIFM1, APOE, ARG1, DHFR, DLAT, GSN, HADHA, HTT, MTHFR, PC, PNP, PSEN1, SORD, TTR, TUBA1A
C4025252	XX	p	Abnormal nasal morphology	5/58	744/4277	0.0814783352685098	n.a	5	1.0	ACTB, AIFM1, MMP2, PRKDC, TALDO1
C4025692	XX	p	Abnormality of calvarial morphology	2/58	461/4277	0.0847635026780615	n.a	2	1.0	ACTB, MMP2
C4025871	XX	p	Abnormality of the face	19/58	1883/4277	0.084925821796488	n.a	19	1.0	ACTB, AGT, AIFM1, CAT, CP, DLAT, IFNG, IL1B, IL6, MAPT, MAT1A, MMP2, PCYT1A, PNP, PPARG, PRKCD, PRKDC, TALDO1, VWF
C4021817	XX	p	Abnormality of head or neck	23/58	2190/4277	0.0857240543250419	n.a	23	1.0	ACTB, AGT, AIFM1, CAT, CP, DHFR, DLAT, IFNG, IGF1, IL1B, IL6, MAPT, MAT1A, MMP2, MTHFR, PCYT1A, PNP, PPARG, PRKCD, PRKDC, TALDO1, TUBA1A, VWF
C0265736	XX	p	Abnormality of the nose	8/58	996/4277	0.0873000018670184	n.a	8	1.0	ACTB, AIFM1, MMP2, PNP, PRKCD, PRKDC, TALDO1, VWF
C0852413	XX	p	Abnormal muscle tone	13/58	1402/4277	0.0930510848840627	n.a	13	1.0	ACTB, AIFM1, APOE, ARG1, DHFR, DLAT, HADHA, HTT, PC, PNP, PSEN1, TTR, TUBA1A
C4025901	XX	p	Abnormality of body height	6/58	829/4277	0.0934201338829828	n.a	6	1.0	ACTB, AIFM1, IGF1, MMP2, NFE2L2, PCYT1A
C0018564	XX	p	Abnormality of the hand	6/58	843/4277	0.0942606759445652	n.a	6	1.0	AIFM1, HTT, IGF1, MMP2, PCYT1A, PRKDC
C4023163	XX	p	Abnormal appendicular skeleton morphology	9/58	1074/4277	0.0950102701807355	n.a	9	1.0	ACTB, AIFM1, HTT, IGF1, MMP2, MMP9, NOTCH1, PCYT1A, PRKDC
C4022738	XX	p	Neurodevelopmental delay	14/58	1494/4277	0.0958629927610827	n.a	14	1.0	ACTB, AIFM1, ARG1, ATG5, DHFR, DLAT, HADHA, HTT, IGF1, MTHFR, NFE2L2, PC, PNP, TUBA1A
C4025825	XX	p	Abnormal external genitalia	3/58	548/4277	0.1095830366385274	n.a	3	1.0	ACTB, PRKDC, TALDO1
C4025860	XX	p	Hearing abnormality	5/58	709/4277	0.1108566096337115	n.a	5	1.0	ACTB, AIFM1, IGF1, PRKDC, TTR
C1384666	XX	p	Hearing impairment	5/58	705/4277	0.1111794810638974	n.a	5	1.0	ACTB, AIFM1, IGF1, PRKDC, TTR
C4021812	XX	p	Abnormality of the head	23/58	2172/4277	0.1118502888673269	n.a	23	1.0	ACTB, AGT, AIFM1, CAT, CP, DHFR, DLAT, IFNG, IGF1, IL1B, IL6, MAPT, MAT1A, MMP2, MTHFR, PCYT1A, PNP, PPARG, PRKCD, PRKDC, TALDO1, TUBA1A, VWF
C4025874	XX	p	Abnormality of skull size	8/58	981/4277	0.114999007082318	n.a	8	1.0	ACTB, AGT, DHFR, DLAT, IGF1, MTHFR, PRKDC, TUBA1A
C0333068	XX	p	Flexion contracture	2/58	441/4277	0.1224990030536358	n.a	2	1.0	AIFM1, MMP2
C4025867	XX	p	Abnormality of the forehead	4/58	606/4277	0.1292694491613988	n.a	4	1.0	ACTB, AIFM1, MMP2, PRKDC
C4021946	XX	p	Abnormality of globe location	4/58	611/4277	0.1293577859647236	n.a	4	1.0	ACTB, AIFM1, MMP2, PRKDC
C2183966	XX	p	Abnormality of the lip	4/58	612/4277	0.1294055158414907	n.a	4	1.0	ACTB, IL1B, PRKDC, TALDO1
C0424503	XX	p	Abnormal facial shape	4/58	600/4277	0.1294963814947389	n.a	4	1.0	AGT, AIFM1, MMP2, TALDO1
C4025823	XX	p	Abnormality of the endocrine system	4/58	619/4277	0.1300180756167328	n.a	4	1.0	CP, IFNG, IL6, PPARG
C4024586	XX	p	Abnormal axial skeleton morphology	18/58	1752/4277	0.1395040525114018	n.a	18	1.0	ACTB, AGT, AIFM1, CCL2, DHFR, DLAT, HTT, IGF1, MAPT, MMP2, MTHFR, PCYT1A, PNP, PRKCD, PRKDC, SORD, TALDO1, TUBA1A
C4021790	XX	p	Abnormality of the skeletal system	24/58	2195/4277	0.1458542176933805	n.a	24	1.0	ACTB, AGT, AIFM1, ALB, CCL2, DHFR, DLAT, HTT, IFNG, IGF1, MAPT, MMP2, MMP9, MTHFR, NOTCH1, PCYT1A, PNP, PRKCD, PRKDC, SORD, TALDO1, TTR, TUBA1A, VWF
C0026633	XX	p	Abnormality of the mouth	12/58	1276/4277	0.14843777915498	n.a	12	1.0	ACTB, AIFM1, CAT, DLAT, IFNG, IL1B, IL6, MAT1A, MMP2, PCYT1A, PRKDC, TALDO1
C0232466	XX	p	Feeding difficulties	3/58	496/4277	0.1487156677465746	n.a	3	1.0	DHFR, HTT, TALDO1
C4021797	XX	p	Abnormality of the thorax	3/58	489/4277	0.1490926497585277	n.a	3	1.0	ACTB, AIFM1, PCYT1A
C4082761	XX	p	Abnormality of limb bone morphology	9/58	1009/4277	0.162785657886016	n.a	9	1.0	ACTB, AIFM1, HTT, IGF1, MMP2, MMP9, NOTCH1, PCYT1A, PRKDC
C4022456	XX	p	Abnormality of limb bone	9/58	1009/4277	0.162785657886016	n.a	9	1.0	ACTB, AIFM1, HTT, IGF1, MMP2, MMP9, NOTCH1, PCYT1A, PRKDC
C0349588	XX	p	Short stature	6/58	769/4277	0.1666526429335776	n.a	6	1.0	ACTB, AIFM1, IGF1, MMP2, NFE2L2, PCYT1A
C0025990	XX	p	Micrognathia	2/58	392/4277	0.167477617502378	n.a	2	1.0	IGF1, MMP2
C4024589	XX	p	Aplasia/Hypoplasia of the mandible	2/58	393/4277	0.167573940286127	n.a	2	1.0	IGF1, MMP2
C4024591	XX	p	Aplasia/Hypoplasia involving bones of the skull	2/58	400/4277	0.1686989935839627	n.a	2	1.0	IGF1, MMP2
C0029131	XX	p	Abnormality of the optic nerve	2/58	405/4277	0.1699782579996087	n.a	2	1.0	AIFM1, GRN
C0240083	XX	p	Abnormal joint morphology	4/58	584/4277	0.175311132392702	n.a	4	1.0	HTT, MMP2, PRKCD, VWF
C3550704	XX	p	Abnormality of digit	7/58	850/4277	0.1830355926528812	n.a	7	1.0	ACTB, AIFM1, IGF1, MMP2, NOTCH1, PCYT1A, PRKDC
C1858120	XX	p	Generalized hypotonia	7/58	851/4277	0.1831743447326007	n.a	7	1.0	ACTB, AIFM1, DHFR, HADHA, PC, PNP, TUBA1A
C4021745	XX	p	Abnormality of the musculature	21/58	1920/4277	0.1869820119945618	n.a	21	1.0	ACTB, AIFM1, APOE, ARG1, CP, DHFR, DLAT, GSN, HADHA, HTT, IFNG, MAPT, MMP2, MTHFR, PC, PNP, PPARG, PSEN1, SORD, TTR, TUBA1A
C4021026	XX	p	Abnormal tendon morphology	3/58	461/4277	0.2029921210397517	n.a	3	1.0	AIFM1, MMP2, TTR
C4023638	XX	p	Abnormality of the external nose	3/58	475/4277	0.2038384213983269	n.a	3	1.0	ACTB, AIFM1, MMP2
C0023015	XX	p	Language impairment	4/58	556/4277	0.2349680710568547	n.a	4	1.0	HTT, MAPT, NFE2L2, PSEN1
C4023165	XX	p	Abnormality of skeletal morphology	24/58	2107/4277	0.2368270698470112	n.a	24	1.0	ACTB, AGT, AIFM1, ALB, CCL2, DHFR, DLAT, HTT, IFNG, IGF1, MAPT, MMP2, MMP9, MTHFR, NOTCH1, PCYT1A, PNP, PRKCD, PRKDC, SORD, TALDO1, TTR, TUBA1A, VWF
C0744356	XX	p	Abnormality of the genital system	8/58	863/4277	0.2524500517792162	n.a	8	1.0	ACTB, BAX, PPARG, PRKDC, PRKN, TALDO1, TTR, VWF
C2674737	XX	p	Abnormality of finger	5/58	624/4277	0.259773094941622	n.a	5	1.0	AIFM1, IGF1, MMP2, PCYT1A, PRKDC
C0020534	XX	p	Hypertelorism	3/58	425/4277	0.2740685402203929	n.a	3	1.0	ACTB, AIFM1, MMP2
C4021096	XX	p	Abnormal reproductive system morphology	6/58	694/4277	0.2819873712161477	n.a	6	1.0	ACTB, BAX, PPARG, PRKDC, PRKN, TALDO1
C2315229	XX	p	Abnormality of facial skeleton	6/58	703/4277	0.2827537013043346	n.a	6	1.0	ACTB, AIFM1, IGF1, MMP2, PNP, PRKCD
C4025884	XX	p	Abnormality of upper lip	4/58	520/4277	0.3091617254174605	n.a	4	1.0	ACTB, IL1B, PRKDC, TALDO1
C0028738	XX	p	Nystagmus	4/58	525/4277	0.3103233508843523	n.a	4	1.0	ATG5, DLAT, PCYT1A, TTR
C4022855	XX	p	Abnormal involuntary eye movements	4/58	527/4277	0.3108868906459475	n.a	4	1.0	ATG5, DLAT, PCYT1A, TTR
C4021813	XX	p	Oral cleft	2/58	323/4277	0.3190270693865048	n.a	2	1.0	ACTB, IL1B
C4021811	XX	p	Abnormality of the midface	2/58	320/4277	0.3190463292109787	n.a	2	1.0	ACTB, AIFM1
C4025843	XX	p	Abnormality of refraction	2/58	320/4277	0.3190463292109787	n.a	2	1.0	HTT, TUBB4B
C4025752	XX	p	Abnormal cardiac ventricle morphology	2/58	324/4277	0.3190655994015587	n.a	2	1.0	NOTCH1, TALDO1
C4021804	XX	p	Abnormality of the nasal alae	2/58	319/4277	0.3190980596744425	n.a	2	1.0	ACTB, AIFM1
C4020971	XX	p	Abnormality of lower limb joint	2/58	334/4277	0.3206581723164822	n.a	2	1.0	HTT, MMP2
C2674738	XX	p	Abnormality of toe	2/58	341/4277	0.3230369510839413	n.a	2	1.0	ACTB, MMP2
C3808249	XX	p	Abnormality of the optic disc	2/58	343/4277	0.3239008065588333	n.a	2	1.0	AIFM1, GRN
C4024902	XX	p	Aplasia/Hypoplasia of the cerebrum	10/58	976/4277	0.3483464626717663	n.a	10	1.0	ACTB, AGT, AIFM1, CCL2, DHFR, DLAT, IGF1, MTHFR, PRKDC, TUBA1A
C4025596	XX	p	Abnormality of connective tissue	7/58	748/4277	0.3825529941490229	n.a	7	1.0	AIFM1, ALB, CCL2, IFNG, MMP2, NOTCH1, PPARG
C0424688	XX	p	Decreased head circumference	8/58	795/4277	0.3994802680855802	n.a	8	1.0	ACTB, AGT, DHFR, DLAT, IGF1, MTHFR, PRKDC, TUBA1A
C4551563	XX	p	Microcephaly	8/58	792/4277	0.3998488700810693	n.a	8	1.0	ACTB, AGT, DHFR, DLAT, IGF1, MTHFR, PRKDC, TUBA1A
C4025691	XX	p	Abnormality of the calvaria	5/58	545/4277	0.4304588200931585	n.a	5	1.0	ACTB, AGT, AIFM1, MMP2, TALDO1
C0948163	XX	p	Abnormality of the cerebral white matter	5/58	541/4277	0.4306985463825745	n.a	5	1.0	ACTB, AIFM1, PC, PRKDC, TUBA1A
C1855670	XX	p	Abnormality of the cornea	2/58	289/4277	0.4332392540608173	n.a	2	1.0	GSN, MMP2
C0008925	XX	p	Cleft palate	2/58	306/4277	0.4366407277965412	n.a	2	1.0	ACTB, IL1B
C4021983	XX	p	Abnormality of the hard palate	2/58	308/4277	0.4374587489934233	n.a	2	1.0	ACTB, IL1B
C1866934	XX	p	Reduced tendon reflexes	2/58	314/4277	0.4404088958964954	n.a	2	1.0	AIFM1, TTR
C0157733	XX	p	Abnormality of the hair	7/58	699/4277	0.4752086363144346	n.a	7	1.0	ACTB, AIFM1, APOE, MMP2, PPARG, PRKCD, TALDO1
C0018816	XX	p	Abnormality of the cardiac septa	3/58	359/4277	0.48038916635788	n.a	3	1.0	NFE2L2, NOTCH1, TALDO1
C4021820	XX	p	Abnormality of reproductive system physiology	3/58	359/4277	0.48038916635788	n.a	3	1.0	PPARG, TTR, VWF
C4025630	XX	p	Abnormal bone structure	3/58	375/4277	0.4812967886848204	n.a	3	1.0	ALB, IGF1, MMP2
C1861866	XX	p	Aplasia/Hypoplasia of the corpus callosum	4/58	435/4277	0.5156982687031888	n.a	4	1.0	ACTB, AIFM1, PRKDC, TUBA1A
C4021810	XX	p	Abnormal location of ears	4/58	458/4277	0.5183723263884431	n.a	4	1.0	ACTB, AIFM1, PRKDC, TALDO1
C1842581	XX	p	Abnormality of the corpus callosum	4/58	463/4277	0.5199315863608286	n.a	4	1.0	ACTB, AIFM1, PRKDC, TUBA1A
C4551596	XX	p	Abnormal renal morphology	5/58	508/4277	0.5436191312451804	n.a	5	1.0	AGT, APOE, CFH, IFNG, PRKCD
C4021805	XX	p	Abnormality of the nasal bridge	5/58	520/4277	0.5437947719950165	n.a	5	1.0	ACTB, AIFM1, MMP2, PRKDC, TALDO1
C0234632	XX	p	Reduced visual acuity	2/58	257/4277	0.5810575045337334	n.a	2	1.0	AHR, TUBB4B
C0853087	XX	p	Abnormality of the nail	2/58	253/4277	0.5810764548564109	n.a	2	1.0	IFNG, NOTCH1
C1840077	XX	p	Anteverted nares	2/58	267/4277	0.5825143693755443	n.a	2	1.0	ACTB, AIFM1
C1260922	XX	p	Functional respiratory abnormality	7/58	659/4277	0.584688946688918	n.a	7	1.0	AGT, AIFM1, HADHA, HMOX1, MTHFR, NOTCH1, TALDO1
C4021637	XX	p	Abnormality of the nares	2/58	275/4277	0.5851385921622136	n.a	2	1.0	ACTB, AIFM1
C4025896	XX	p	Abnormality of the penis	2/58	282/4277	0.5884216791525103	n.a	2	1.0	ACTB, PRKDC
C1836542	XX	p	Depressed nasal bridge	2/58	283/4277	0.5889620277096961	n.a	2	1.0	AIFM1, TALDO1
C4021789	XX	p	Abnormality of the vertebral column	9/58	810/4277	0.6136582502522431	n.a	9	1.0	ACTB, AIFM1, CCL2, HTT, MAPT, MMP2, PCYT1A, SORD, TALDO1
C4023518	XX	p	Abnormality of skin adnexa morphology	9/58	802/4277	0.6138477334034258	n.a	9	1.0	ACTB, AIFM1, APOE, IFNG, MMP2, NOTCH1, PPARG, PRKCD, TALDO1
C1857045	XX	p	Abnormality of the philtrum	3/58	352/4277	0.6269159903821743	n.a	3	1.0	ACTB, PRKDC, TALDO1
C4023161	XX	p	Abnormal bone ossification	3/58	355/4277	0.6279810947218922	n.a	3	1.0	ALB, IGF1, MMP2
C3714756	XX	p	Intellectual disability	13/58	1121/4277	0.6518865081097909	n.a	13	1.0	ACTB, AIFM1, ALDOB, ARG1, DLAT, HTT, IFNG, IGF1, MAT1A, NFE2L2, PC, PNP, TUBA1A
C0018784	XX	p	Sensorineural hearing loss	4/58	401/4277	0.6534266414134124	n.a	4	1.0	ACTB, AIFM1, IGF1, PRKDC
C4021165	XX	p	Abnormality of long bone morphology	4/58	397/4277	0.6536607361752675	n.a	4	1.0	AIFM1, MMP2, MMP9, PCYT1A
C0239234	XX	p	Low-set ears	4/58	417/4277	0.654454061334028	n.a	4	1.0	ACTB, AIFM1, PRKDC, TALDO1
C4551464	XX	p	Aplasia/hypoplasia of the extremities	4/58	419/4277	0.6547957872798061	n.a	4	1.0	AIFM1, HTT, MMP9, PCYT1A
C4023382	XX	p	Functional abnormality of the inner ear	4/58	420/4277	0.6549838317565386	n.a	4	1.0	ACTB, AIFM1, IGF1, PRKDC
C4021809	XX	p	Abnormality of the inner ear	4/58	425/4277	0.6560931962140233	n.a	4	1.0	ACTB, AIFM1, IGF1, PRKDC
C1854301	XX	p	Motor delay	5/58	472/4277	0.6766225985118008	n.a	5	1.0	ATG5, DLAT, IGF1, PNP, TUBA1A
C0497552	XX	p	Abnormality of the nervous system	36/58	2791/4277	0.6772509998367714	n.a	36	1.0	ACTB, AGT, AIFM1, ALDOB, APOE, APP, ARG1, ATG5, CCL2, CFH, CP, DHFR, DLAT, GRN, GSN, HADHA, HTT, IFNG, IGF1, IL6, MAPT, MAT1A, MMP2, MTHFR, NFE2L2, NOS3, NOTCH1, PC, PNP, PRKDC, PRKN, PSEN1, SNCA, SORD, TTR, TUBA1A
C4024585	XX	p	Aplasia/hypoplasia affecting bones of the axial skeleton	5/58	492/4277	0.67746237196747	n.a	5	1.0	ACTB, AIFM1, CCL2, IGF1, MMP2
C0036439	XX	p	Scoliosis	6/58	550/4277	0.6947052075456637	n.a	6	1.0	ACTB, HTT, MAPT, MMP2, PCYT1A, SORD
C4022992	XX	p	Abnormal respiratory system morphology	7/58	620/4277	0.7096086741579624	n.a	7	1.0	AGT, IFNG, NFE2L2, PNP, PRKCD, PRKDC, PRKN
C0026826	XX	p	Hypertonia	7/58	632/4277	0.709645258407074	n.a	7	1.0	APOE, ARG1, HTT, PNP, PSEN1, TTR, TUBA1A
C4023747	XX	p	Abnormality of the curvature of the vertebral column	7/58	615/4277	0.70990221543937	n.a	7	1.0	ACTB, AIFM1, HTT, MAPT, MMP2, PCYT1A, SORD
C4024592	XX	p	Aplasia/hypoplasia involving the skeleton	8/58	697/4277	0.7217773761073274	n.a	8	1.0	ACTB, AIFM1, CCL2, HTT, IGF1, MMP2, MMP9, PCYT1A
C4023408	XX	p	Abnormality of mouth size	2/58	220/4277	0.7683754552815785	n.a	2	1.0	ACTB, TALDO1
C0151888	XX	p	Hyporeflexia	2/58	219/4277	0.7683949182006165	n.a	2	1.0	AIFM1, TTR
C4023406	XX	p	Abnormality of upper lip vermillion	2/58	223/4277	0.7684081803607683	n.a	2	1.0	ACTB, PRKDC
C4025842	XX	p	Abnormality of the uvea	2/58	218/4277	0.7684297827335878	n.a	2	1.0	ACTB, APOE
C0241165	XX	p	Thickened skin	2/58	217/4277	0.7684801765578917	n.a	2	1.0	MMP2, PPARG
C1849367	XX	p	Wide nasal bridge	2/58	227/4277	0.7686594775420625	n.a	2	1.0	ACTB, PRKDC
C0018818	XX	p	Ventricular septal defect	2/58	227/4277	0.7686594775420625	n.a	2	1.0	NOTCH1, TALDO1
C4025763	XX	p	Abnormality of the rib cage	2/58	229/4277	0.7688716982107638	n.a	2	1.0	AIFM1, PCYT1A
C4024338	XX	p	Deviation of the hand or of fingers of the hand	2/58	229/4277	0.7688716982107638	n.a	2	1.0	IGF1, PRKDC
C4021264	XX	p	Abnormal ventricular septum morphology	2/58	234/4277	0.7696458991100871	n.a	2	1.0	NOTCH1, TALDO1
C1855333	XX	p	External genital hypoplasia	2/58	234/4277	0.7696458991100871	n.a	2	1.0	ACTB, PRKDC
C4021612	XX	p	Aplasia/hypoplasia involving bones of the hand	3/58	293/4277	0.7961732301421115	n.a	3	1.0	AIFM1, HTT, PCYT1A
C0005745	XX	p	Ptosis	3/58	302/4277	0.7964408489833299	n.a	3	1.0	ACTB, DLAT, IGF1
C4023124	XX	p	Short digit	3/58	302/4277	0.7964408489833299	n.a	3	1.0	AIFM1, NOTCH1, PCYT1A
C0344482	XX	p	Hypoplasia of the corpus callosum	3/58	306/4277	0.7968148185825452	n.a	3	1.0	AIFM1, PRKDC, TUBA1A
C4316788	XX	p	Abnormality of the intestine	3/58	308/4277	0.7970585440551611	n.a	3	1.0	ABCB1, BAX, IL6
C4011556	XX	p	Abnormal eyebrow morphology	3/58	310/4277	0.7973393158001669	n.a	3	1.0	ACTB, AIFM1, TALDO1
C4025035	XX	p	Aplasia/hypoplasia involving bones of the upper limbs	3/58	312/4277	0.7976565366194204	n.a	3	1.0	AIFM1, HTT, PCYT1A
C3278923	XX	p	Ventriculomegaly	3/58	316/4277	0.7983978948227672	n.a	3	1.0	ACTB, GRN, TUBA1A
C4073181	XX	p	Aplasia/hypoplasia involving bones of the extremities	4/58	381/4277	0.815805022880052	n.a	4	1.0	AIFM1, HTT, MMP9, PCYT1A
C0740651	XX	p	Abdominal symptom	10/58	829/4277	0.8669763419435541	n.a	10	1.0	ALDOB, ARG1, CFH, DHFR, HTT, IFNG, IL6, MAPT, TALDO1, TTR
C0037822	XX	p	Neurological speech impairment	11/58	887/4277	0.8707541039727587	n.a	11	1.0	APOE, CFH, CP, DLAT, GRN, HTT, MAPT, NFE2L2, PSEN1, SNCA, TTR
C4018871	XX	p	Abnormality of the respiratory system	13/58	1042/4277	0.8776384713480018	n.a	13	1.0	AGT, AIFM1, HADHA, HMOX1, IFNG, MTHFR, NFE2L2, NOTCH1, PNP, PRKCD, PRKDC, PRKN, TALDO1
C0262361	XX	p	Growth abnormality	20/58	1549/4277	0.8907806190456748	n.a	20	1.0	ACTB, AIFM1, ALDOB, ARG1, HADHA, HMOX1, IFNG, IGF1, IL6, MMP2, NFE2L2, NOS3, NR1H4, PCYT1A, PNP, PPARG, PRKDC, PYGL, SNCA, TALDO1
C4022811	XX	p	Abnormality of nervous system physiology	34/58	2555/4277	0.8931596312563512	n.a	34	1.0	ACTB, AIFM1, ALDOB, APOE, APP, ARG1, ATG5, CFH, CP, DHFR, DLAT, GRN, GSN, HADHA, HTT, IFNG, IGF1, IL6, MAPT, MAT1A, MMP2, MTHFR, NFE2L2, NOS3, NOTCH1, PC, PNP, PRKDC, PRKN, PSEN1, SNCA, SORD, TTR, TUBA1A
C4025852	XX	p	Abnormality of the nasal tip	2/58	196/4277	1.0	n.a	2	1.0	AIFM1, MMP2
C0151611	XX	p	EEG abnormality	2/58	198/4277	1.0	n.a	2	1.0	GRN, MTHFR
C0728829	XX	p	Pes cavus	2/58	160/4277	1.0	n.a	2	1.0	MMP2, SORD
C1260926	XX	p	Abnormality of skin pigmentation	3/58	225/4277	1.0	n.a	3	1.0	IFNG, IL6, MMP2
C0035243	XX	p	Respiratory tract infection	4/58	303/4277	1.0	n.a	4	1.0	NFE2L2, PNP, PRKCD, PRKDC
C4023186	XX	p	Neoplasm by histology	2/58	154/4277	1.0	n.a	2	1.0	BAX, IFNG
C4023618	XX	p	Abnormality of myeloid leukocytes	2/58	166/4277	1.0	n.a	2	1.0	APOE, PNP
C4022678	XX	p	Abnormal female reproductive system physiology	2/58	151/4277	1.0	n.a	2	1.0	PPARG, VWF
C1866129	XX	p	Abnormality of the cerebellum	7/58	570/4277	1.0	n.a	7	1.0	ARG1, ATG5, DHFR, GRN, HTT, PRKDC, TUBA1A
C0344722	XX	p	Abnormality of the atrial septum	3/58	227/4277	1.0	n.a	3	1.0	NFE2L2, NOTCH1, TALDO1
C4023640	XX	p	Abnormality of the lower urinary tract	4/58	347/4277	1.0	n.a	4	1.0	CCL2, MAPT, SNCA, TTR
C4023397	XX	p	Abnormal hair quantity	5/58	421/4277	1.0	n.a	5	1.0	APOE, MMP2, PPARG, PRKCD, TALDO1
C4021207	XX	p	Abnormality of the cerebral subcortex	8/58	595/4277	1.0	n.a	8	1.0	ACTB, AIFM1, HTT, MAPT, PC, PRKDC, PRKN, TUBA1A
C4021657	XX	p	Abnormality of bone mineral density	3/58	280/4277	1.0	n.a	3	1.0	ALB, IGF1, MMP2
C4025724	XX	p	Abnormality of the cerebral ventricles	5/58	422/4277	1.0	n.a	5	1.0	ACTB, CCL2, GRN, IFNG, TUBA1A
C0013274	XX	p	Patent ductus arteriosus	2/58	154/4277	1.0	n.a	2	1.0	ACTB, TALDO1
C1857108	XX	p	Limitation of joint mobility	2/58	161/4277	1.0	n.a	2	1.0	MMP2, PCYT1A
C4025734	XX	p	Abnormality of the scalp	2/58	174/4277	1.0	n.a	2	1.0	ACTB, AIFM1
C4551492	XX	p	Micropenis	2/58	173/4277	1.0	n.a	2	1.0	ACTB, PRKDC
C1852534	XX	p	Hypoplastic male external genitalia	2/58	209/4277	1.0	n.a	2	1.0	ACTB, PRKDC
C4022597	XX	p	Abnormality of central nervous system electrophysiology	2/58	212/4277	1.0	n.a	2	1.0	GRN, MTHFR
C4021781	XX	p	Abnormal nervous system electrophysiology	3/58	289/4277	1.0	n.a	3	1.0	GRN, MTHFR, SORD
C0580531	XX	p	Abnormal leukocyte count	3/58	231/4277	1.0	n.a	3	1.0	IFNG, PNP, PRKCD
C0740279	XX	p	Cerebellar atrophy	3/58	277/4277	1.0	n.a	3	1.0	ARG1, GRN, HTT
C4021787	XX	p	Abnormal diaphysis morphology	2/58	173/4277	1.0	n.a	2	1.0	MMP9, PCYT1A
C2673410	XX	p	Midface retrusion	2/58	173/4277	1.0	n.a	2	1.0	ACTB, AIFM1
C0009806	XX	p	Constipation	2/58	149/4277	1.0	n.a	2	1.0	MAPT, TTR
C4021735	XX	p	Abnormality of the hip bone	3/58	255/4277	1.0	n.a	3	1.0	AIFM1, MMP2, PCYT1A
C0035229	XX	p	Respiratory insufficiency	3/58	277/4277	1.0	n.a	3	1.0	AGT, AIFM1, HADHA
C4025864	XX	p	Abnormality of the chin	2/58	185/4277	1.0	n.a	2	1.0	ACTB, PRKDC
C4023432	XX	p	Abnormality of the metencephalon	7/58	574/4277	1.0	n.a	7	1.0	ARG1, ATG5, DHFR, GRN, HTT, PRKDC, TUBA1A
C1865017	XX	p	Thin upper lip vermilion	2/58	159/4277	1.0	n.a	2	1.0	ACTB, PRKDC
C4759671	XX	p	Deviation of finger	2/58	214/4277	1.0	n.a	2	1.0	IGF1, PRKDC
C1855340	XX	p	Bowing of the long bones	2/58	165/4277	1.0	n.a	2	1.0	MMP9, PCYT1A
C4025360	XX	p	Functional motor deficit	2/58	189/4277	1.0	n.a	2	1.0	ARG1, SORD
C4023721	XX	p	Abnormal hair pattern	2/58	151/4277	1.0	n.a	2	1.0	ACTB, AIFM1
C0018817	XX	p	Atrial septal defect	3/58	226/4277	1.0	n.a	3	1.0	NFE2L2, NOTCH1, TALDO1
C0151583	XX	p	Abnormality of the cerebrospinal fluid	3/58	230/4277	1.0	n.a	3	1.0	AIFM1, CCL2, TTR
C1704431	XX	p	Abnormality of ion homeostasis	2/58	152/4277	1.0	n.a	2	1.0	ALDOB, CP
C4025071	XX	p	Aplasia/Hypoplasia of fingers	2/58	170/4277	1.0	n.a	2	1.0	AIFM1, PCYT1A
C4025708	XX	p	Cerebellar malformation	2/58	182/4277	1.0	n.a	2	1.0	PRKDC, TUBA1A
C0020580	XX	p	Sensory impairment	2/58	172/4277	1.0	n.a	2	1.0	AIFM1, SORD
C4021170	XX	p	Abnormality of hindbrain morphology	7/58	574/4277	1.0	n.a	7	1.0	ARG1, ATG5, DHFR, GRN, HTT, PRKDC, TUBA1A
C4020847	XX	p	Abnormality of pelvic girdle bone morphology	4/58	303/4277	1.0	n.a	4	1.0	AIFM1, MMP2, MMP9, PCYT1A
C1865014	XX	p	Long philtrum	2/58	194/4277	1.0	n.a	2	1.0	ACTB, PRKDC
C0266435	XX	p	Hypoplasia of penis	2/58	176/4277	1.0	n.a	2	1.0	ACTB, PRKDC
C4025246	XX	p	Abnormality of cardiac atrium	3/58	236/4277	1.0	n.a	3	1.0	NFE2L2, NOTCH1, TALDO1
C4025818	XX	p	Abnormality of skeletal maturation	2/58	171/4277	1.0	n.a	2	1.0	AIFM1, IGF1
C0034935	XX	p	Babinski sign	2/58	165/4277	1.0	n.a	2	1.0	APOE, PSEN1
C1837249	XX	p	Abnormality of neuronal migration	3/58	223/4277	1.0	n.a	3	1.0	ACTB, PRKDC, TUBA1A
C4025665	XX	p	Aplasia/Hypoplasia involving the central nervous system	16/58	1187/4277	1.0	n.a	16	1.0	ACTB, AGT, AIFM1, APOE, ATG5, CCL2, DHFR, DLAT, GRN, HTT, IGF1, MTHFR, PRKDC, PRKN, PSEN1, TUBA1A
C4025037	XX	p	Aplasia/hypoplasia involving bones of the lower limbs	3/58	232/4277	1.0	n.a	3	1.0	AIFM1, HTT, MMP9
C0026838	XX	p	Spasticity	7/58	534/4277	1.0	n.a	7	1.0	APOE, ARG1, HTT, PNP, PSEN1, TTR, TUBA1A
C0027498	XX	p	Nausea and vomiting	2/58	148/4277	1.0	n.a	2	1.0	ALDOB, ARG1
C0151786	XX	p	Muscle weakness	7/58	531/4277	1.0	n.a	7	1.0	AIFM1, DHFR, GSN, HADHA, MTHFR, SORD, TTR
C1842083	XX	p	Abnormality of the ribs	2/58	182/4277	1.0	n.a	2	1.0	AIFM1, PCYT1A
C4022384	XX	p	Abnormality of the scalp hair	2/58	172/4277	1.0	n.a	2	1.0	ACTB, AIFM1
C0854723	XX	p	Retinal dystrophy	3/58	228/4277	1.0	n.a	3	1.0	AHR, GRN, PCYT1A
C2674432	XX	p	Reduced bone mineral density	3/58	242/4277	1.0	n.a	3	1.0	ALB, IGF1, MMP2
C1855755	XX	p	Abnormal immunoglobulin level	2/58	166/4277	1.0	n.a	2	1.0	NFE2L2, PRKCD
C4025727	XX	p	Abnormality of the upper respiratory tract	2/58	204/4277	1.0	n.a	2	1.0	PNP, PRKCD
C0239594	XX	p	Short finger	2/58	149/4277	1.0	n.a	2	1.0	AIFM1, PCYT1A