Human Phenotype Ontology

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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
Clinical modifier (HP:0012823)

Parent Node:
Phenotypic variability (HP:0003812)

..Starting node
..Incomplete penetrance (HP:0003829)

Term ID:

3829

Name:

Incomplete penetrance

Synonym:

Reduced penetrance

Definition:

A situation in which mutation carriers do not show clinically evident phenotypic abnormalities.

Comments:

Reference:

HP:0003829

Genes and Diseases:

Child Nodes:

........

Age-dependent penetrance (HP:0003831)

Sister Nodes:

Variable expressivity (HP:0003828)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	DiseaseId	DiseaseName	DiseaseMIM	ConceptID	Source	Typical association	ClinVar variants	HGNC ID	GeneMIM
HPO disease - gene - phenotype typical associations:
HP:0003829	HP:0003829	Incomplete penetrance	0	ACTN4 CL E G H	81	603278	Focal segmental glomerulosclerosis 1	603278	C0333497	OMIM	1	308	166	604638
HP:0003829	HP:0003829	Incomplete penetrance	0	ANO3 CL E G H	63982	615034	Dystonia 24	615034	C3554374	OMIM	1	477	14004	610110
HP:0003829	HP:0003829	Incomplete penetrance	0	ANXA11 CL E G H	311	617839	AMYOTROPHIC LATERAL SCLEROSIS 23	617839	CN778765	OMIM	1	305	535	602572
HP:0003829	HP:0003829	Incomplete penetrance	0	ATL1 CL E G H	51062	182600	Spastic paraplegia 3	182600	C2931355	OMIM	1	517	11231	606439
HP:0003829	HP:0003829	Incomplete penetrance	0	ATP1A2 CL E G H	477	602481	Familial hemiplegic migraine type 2	602481	C1865322	OMIM	1	1117	800	182340
HP:0003829	HP:0003829	Incomplete penetrance	0	ATP1A3 CL E G H	478	128235	Dystonia 12	128235	C1868681	OMIM	1	993	801	182350
HP:0003829	HP:0003829	Incomplete penetrance	0	ATXN10 CL E G H	25814	603516	Spinocerebellar ataxia 10	603516	C1963674	OMIM	1	116	10549	611150
HP:0003829	HP:0003829	Incomplete penetrance	0	BMPR2 CL E G H	659	178600	Primary pulmonary hypertension	178600	C0152171	OMIM	1	1028	1078	600799
HP:0003829	HP:0003829	Incomplete penetrance	0	CACNA1A CL E G H	773	108500	Episodic ataxia type 2	108500	C1720416	OMIM	1	3248	1388	601011
HP:0003829	HP:0003829	Incomplete penetrance	0	CACNA1S CL E G H	779	170400	Hypokalemic periodic paralysis 1	170400	C3714580	OMIM	1	1886	1397	114208
HP:0003829	HP:0003829	Incomplete penetrance	0	CACNB4 CL E G H	785	613855	Episodic ataxia, type 5	613855	C1866039	OMIM	1	323	1404	601949
HP:0003829	HP:0003829	Incomplete penetrance	0	CAV1 CL E G H	857	615343	Primary pulmonary hypertension 3	615343	C3809192	OMIM	1	135	1527	601047
HP:0003829	HP:0003829	Incomplete penetrance	0	CFC1 CL E G H	55997	605376	Heterotaxy, visceral, 2, autosomal	605376	C1415817	OMIM	1	46	18292	605194
HP:0003829	HP:0003829	Incomplete penetrance	0	CHRNA2 CL E G H	1135	610353	Epilepsy, nocturnal frontal lobe, type 4	610353	C1835905	OMIM	1	732	1956	118502
HP:0003829	HP:0003829	Incomplete penetrance	0	CHRNA4 CL E G H	1137	600513	Epilepsy, nocturnal frontal lobe, type 1	600513	C1838049	OMIM	1	1017	1958	118504
HP:0003829	HP:0003829	Incomplete penetrance	0	CLCN2 CL E G H	1181	605635	Hyperaldosteronism, familial, type II	605635	C1854107	OMIM	1	403	2020	600570
HP:0003829	HP:0003829	Incomplete penetrance	0	COL4A2 CL E G H	1284	614483	Porencephaly 2	614483	C3280970	OMIM	1	1371	2203	120090
HP:0003829	HP:0003829	Incomplete penetrance	0	CPOX CL E G H	1371	121300	Hereditary coproporphyria	121300	C0162531	OMIM	1	256	2321	612732
HP:0003829	HP:0003829	Incomplete penetrance	0	CRELD1 CL E G H	78987	606217	Atrioventricular septal defect 2	606217	C1853508	OMIM	1	193	14630	607170
HP:0003829	HP:0003829	Incomplete penetrance	0	CTLA4 CL E G H	1493	616100	Autoimmune lymphoproliferatiVe syndrome, type V	616100	C4015214	OMIM	1	232	2505	123890
HP:0003829	HP:0003829	Incomplete penetrance	0	CTNNB1 CL E G H	1499	155255	Medulloblastoma	155255	C0025149	OMIM	1	624	2514	116806
HP:0003829	HP:0003829	Incomplete penetrance	0	DCC CL E G H	1630	157600	Mirror movements 1	157600	C1834870	OMIM	1	259	2701	120470
HP:0003829	HP:0003829	Incomplete penetrance	0	DCX CL E G H	1641	300067	Lissencephaly, X-linked	300067	C1848199	OMIM	1	423	2714	300121
HP:0003829	HP:0003829	Incomplete penetrance	0	DEPDC5 CL E G H	9681	604364	Epilepsy, familial focal, with variable foci 1	604364	C1858477	OMIM	1	1975	18423	614191
HP:0003829	HP:0003829	Incomplete penetrance	0	DSTYK CL E G H	25778	610805	Congenital anomalies of kidney and urinary tract 1, susceptibility to	610805	C1835826	OMIM	1	171	29043	612666
HP:0003829	HP:0003829	Incomplete penetrance	0	ELOVL4 CL E G H	6785	133190	Erythrokeratodermia with ataxia	133190	C1851481	OMIM	1	297	14415	605512
HP:0003829	HP:0003829	Incomplete penetrance	0	EYA1 CL E G H	2138	602588	Branchiootic syndrome	602588	C1865143	OMIM	1	513	3519	601653
HP:0003829	HP:0003829	Incomplete penetrance	0	EYA1 CL E G H	2138	113650	Melnick-Fraser syndrome	113650	C0265234	OMIM	1	513	3519	601653
HP:0003829	HP:0003829	Incomplete penetrance	0	FGF23 CL E G H	8074	193100	Autosomal dominant hypophosphatemic rickets	193100	C0342642	OMIM	1	226	3680	605380
HP:0003829	HP:0003829	Incomplete penetrance	0	FGFR1 CL E G H	2260	147950	Kallmann syndrome 2	147950	C1563720	OMIM	1	936	3688	136350
HP:0003829	HP:0003829	Incomplete penetrance	0	FH CL E G H	2271	150800	Multiple cutaneous leiomyomas	150800	C1708350	OMIM	1	1798	3700	136850
HP:0003829	HP:0003829	Incomplete penetrance	0	FLCN CL E G H	201163	173600	Pneumothorax, primary spontaneous	173600	C1868193	OMIM	1	2185	27310	607273
HP:0003829	HP:0003829	Incomplete penetrance	0	FMR1 CL E G H	2332	300624	Fragile X syndrome	300624	C0016667	OMIM	1	371	3775	309550
HP:0003829	HP:0003829	Incomplete penetrance	0	GATA5 CL E G H	140628	617912	CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 5	617912	CN873437	OMIM	1	395	15802	611496
HP:0003829	HP:0003829	Incomplete penetrance	0	GJA5 CL E G H	2702	612474	1q21.1 recurrent microdeletion	612474	C2675897	OMIM	1	516	4279	121013
HP:0003829	HP:0003829	Incomplete penetrance	0	GJA8 CL E G H	2703	612474	1q21.1 recurrent microdeletion	612474	C2675897	OMIM	1	443	4281	600897
HP:0003829	HP:0003829	Incomplete penetrance	0	GJB1 CL E G H	2705	302800	X-linked hereditary motor and sensory neuropathy	302800	C0393808	OMIM	1	860	4283	304040
HP:0003829	HP:0003829	Incomplete penetrance	0	GJC2 CL E G H	57165	613480	Lymphedema, hereditary, IC	613480	C3150732	OMIM	1	323	17494	608803
HP:0003829	HP:0003829	Incomplete penetrance	0	GLI2 CL E G H	2736	615849	Culler-Jones syndrome	615849	C4014479	OMIM	1	832	4318	165230
HP:0003829	HP:0003829	Incomplete penetrance	0	GLI2 CL E G H	2736	610829	Holoprosencephaly 9	610829	C1835819	OMIM	1	832	4318	165230
HP:0003829	HP:0003829	Incomplete penetrance	0	GREB1L CL E G H	80000	617805	RENAL HYPODYSPLASIA/APLASIA 3	617805	C4540497	OMIM	1	263	31042	617782
HP:0003829	HP:0003829	Incomplete penetrance	0	GRIN2A CL E G H	2903	245570	Epilepsy, focal, with speech disorder and with or without mental retardation	245570	C1832814	OMIM	1	1836	4585	138253
HP:0003829	HP:0003829	Incomplete penetrance	0	HNRNPDL CL E G H	9987	609115	Limb-girdle muscular dystrophy, type 1G	609115	C1836765	OMIM	1	354	5037	607137
HP:0003829	HP:0003829	Incomplete penetrance	0	IFIH1 CL E G H	64135	615846	Aicardi-Goutieres syndrome 7	615846	C3888244	OMIM	1	1170	18873	606951
HP:0003829	HP:0003829	Incomplete penetrance	0	IKZF1 CL E G H	10320	616873	Immunodeficiency, common variable, 13	616873	C4225173	OMIM	1	200	13176	603023
HP:0003829	HP:0003829	Incomplete penetrance	0	JAG1 CL E G H	182	118450	Alagille syndrome 1	118450	C1956125	OMIM	1	1605	6188	601920
HP:0003829	HP:0003829	Incomplete penetrance	0	KCNK3 CL E G H	3777	615344	Primary pulmonary hypertension 4	615344	C3809198	OMIM	1	185	6278	603220
HP:0003829	HP:0003829	Incomplete penetrance	0	KIF11 CL E G H	3832	152950	Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation	152950	C1835265	OMIM	1	769	6388	148760
HP:0003829	HP:0003829	Incomplete penetrance	0	KMT2B CL E G H	9757	617284	Dystonia 28, childhood-onset	617284	C4310633	OMIM	1	1303	15840	606834
HP:0003829	HP:0003829	Incomplete penetrance	0	KRIT1 CL E G H	889	116860	Cerebral cavernous malformation	116860	C2919945	OMIM	1	578	1573	604214
HP:0003829	HP:0003829	Incomplete penetrance	0	LGI1 CL E G H	9211	600512	Epilepsy, lateral temporal lobe, autosomal dominant	600512	C1838062	OMIM	1	443	6572	604619
HP:0003829	HP:0003829	Incomplete penetrance	0	LRP5 CL E G H	4041	617875	POLYCYSTIC LIVER DISEASE 4 WITH OR WITHOUT KIDNEY CYSTS	617875	CN818987	OMIM	1	1819	6697	603506
HP:0003829	HP:0003829	Incomplete penetrance	0	LRSAM1 CL E G H	90678	614436	Charcot-Marie-Tooth disease type 2P	614436	C3280797	OMIM	1	792	25135	610933
HP:0003829	HP:0003829	Incomplete penetrance	0	MED13L CL E G H	23389	608808	Transposition of the great arteries, dextro-looped 1	608808	C1837341	OMIM	1	1047	22962	608771
HP:0003829	HP:0003829	Incomplete penetrance	0	MET CL E G H	4233	605074	Renal cell carcinoma, papillary, 1	605074	C0007134	OMIM	1	3184	7029	164860
HP:0003829	HP:0003829	Incomplete penetrance	0	MFN2 CL E G H	9927	609260	Charcot-Marie-Tooth disease, type 2A2A	609260	C1836485	OMIM	1	1222	16877	608507
HP:0003829	HP:0003829	Incomplete penetrance	0	MICAL1 CL E G H	64780	600512	Epilepsy, lateral temporal lobe, autosomal dominant	600512	C1838062	OMIM	1	726	20619	607129
HP:0003829	HP:0003829	Incomplete penetrance	0	MN1 CL E G H	4330	607174	Meningioma, familial	607174	C1333989	OMIM	1	222	7180	156100
HP:0003829	HP:0003829	Incomplete penetrance	0	MNX1 CL E G H	3110	176450	Currarino triad	176450	C1531773	OMIM	1	327	4979	142994
HP:0003829	HP:0003829	Incomplete penetrance	0	MSH6 CL E G H	2956	614350	Hereditary nonpolyposis colorectal cancer type 5	614350	C1833477	OMIM	1	8438	7329	600678
HP:0003829	HP:0003829	Incomplete penetrance	0	MT-ATP6 CL E G H	4508	535000	Leber's optic atrophy	535000	C0917796	OMIM	1		7414	516060
HP:0003829	HP:0003829	Incomplete penetrance	0	MT-CO3 CL E G H	4514	535000	Leber's optic atrophy	535000	C0917796	OMIM	1		7422	516050
HP:0003829	HP:0003829	Incomplete penetrance	0	MT-CYB CL E G H	4519	535000	Leber's optic atrophy	535000	C0917796	OMIM	1		7427	516020
HP:0003829	HP:0003829	Incomplete penetrance	0	MT-ND1 CL E G H	4535	535000	Leber's optic atrophy	535000	C0917796	OMIM	1		7455	516000
HP:0003829	HP:0003829	Incomplete penetrance	0	MT-ND2 CL E G H	4536	535000	Leber's optic atrophy	535000	C0917796	OMIM	1		7456	516001
HP:0003829	HP:0003829	Incomplete penetrance	0	MT-ND4 CL E G H	4538	535000	Leber's optic atrophy	535000	C0917796	OMIM	1		7459	516003
HP:0003829	HP:0003829	Incomplete penetrance	0	MT-ND4L CL E G H	4539	535000	Leber's optic atrophy	535000	C0917796	OMIM	1		7460	516004
HP:0003829	HP:0003829	Incomplete penetrance	0	MT-ND5 CL E G H	4540	535000	Leber's optic atrophy	535000	C0917796	OMIM	1		7461	516005
HP:0003829	HP:0003829	Incomplete penetrance	0	MT-ND6 CL E G H	4541	535000	Leber's optic atrophy	535000	C0917796	OMIM	1		7462	516006
HP:0003829	HP:0003829	Incomplete penetrance	0	NEXMIF CL E G H	340533	300912	Mental retardation, X-linked 98	300912	C3806730	OMIM	1	990	29433	300524
HP:0003829	HP:0003829	Incomplete penetrance	0	NF2 CL E G H	4771	607174	Meningioma, familial	607174	C1333989	OMIM	1	1783	7773	607379
HP:0003829	HP:0003829	Incomplete penetrance	0	NF2 CL E G H	4771	162091	Schwannomatosis 1	162091	C4048809	OMIM	1	1783	7773	607379
HP:0003829	HP:0003829	Incomplete penetrance	0	NLRP12 CL E G H	91662	611762	Familial cold autoinflammatory syndrome 2	611762	C2673198	OMIM	1	1036	22938	609648
HP:0003829	HP:0003829	Incomplete penetrance	0	NME1 CL E G H	4830	256700	Neuroblastoma	256700	C0027819	OMIM	1	16	7849	156490
HP:0003829	HP:0003829	Incomplete penetrance	0	NPRL2 CL E G H	10641	617116	Epilepsy, familial focal, with variable foci 2	617116	C4310709	OMIM	1	87	24969	607072
HP:0003829	HP:0003829	Incomplete penetrance	0	NPRL3 CL E G H	8131	617118	Epilepsy, familial focal, with variable foci 3	617118	C4310708	OMIM	1	898	14124	600928
HP:0003829	HP:0003829	Incomplete penetrance	0	NR5A1 CL E G H	2516	617480	46,XX sex reversal 4	617480	C4479552	OMIM	1	251	7983	184757
HP:0003829	HP:0003829	Incomplete penetrance	0	NRIP1 CL E G H	8204	618270	618270	618270		OMIM	1	212	8001	602490
HP:0003829	HP:0003829	Incomplete penetrance	0	OPA1 CL E G H	4976	165500	Dominant hereditary optic atrophy	165500	C0338508	OMIM	1	1224	8140	605290
HP:0003829	HP:0003829	Incomplete penetrance	0	PARN CL E G H	5073	616371	Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4	616371	C4225347	OMIM	1	627	8609	604212
HP:0003829	HP:0003829	Incomplete penetrance	0	PAX2 CL E G H	5076	616002	Focal segmental glomerulosclerosis 7	616002	C4014925	OMIM	1	406	8616	167409
HP:0003829	HP:0003829	Incomplete penetrance	0	PDGFB CL E G H	5155	607174	Meningioma, familial	607174	C1333989	OMIM	1	151	8800	190040
HP:0003829	HP:0003829	Incomplete penetrance	0	PITX1 CL E G H	5307	119800	Talipes equinovarus	119800	C0009081	OMIM	1	85	9004	602149
HP:0003829	HP:0003829	Incomplete penetrance	0	PKD2 CL E G H	5311	613095	Polycystic kidney disease 2	613095	C2751306	OMIM	1	840	9009	173910
HP:0003829	HP:0003829	Incomplete penetrance	0	PRCC CL E G H	5546	605074	Renal cell carcinoma, papillary, 1	605074	C0007134	OMIM	1	28	9343	179755
HP:0003829	HP:0003829	Incomplete penetrance	0	PRKCG CL E G H	5582	605361	Spinocerebellar ataxia 14	605361	C1854369	OMIM	1	323	9402	176980
HP:0003829	HP:0003829	Incomplete penetrance	0	PROK2 CL E G H	60675	610628	Hypogonadotropic hypogonadism 4 with or without anosmia	610628	C1857720	OMIM	1	65	18455	607002
HP:0003829	HP:0003829	Incomplete penetrance	0	PROKR2 CL E G H	128674	244200	Kallmann syndrome 3	244200	C2930927	OMIM	1	160	15836	607123
HP:0003829	HP:0003829	Incomplete penetrance	0	PRPF31 CL E G H	26121	600138	Retinitis pigmentosa 11	600138	C1838601	OMIM	1	629	15446	606419
HP:0003829	HP:0003829	Incomplete penetrance	0	PRPF8 CL E G H	10594	600059	Retinitis pigmentosa 13	600059	C1838702	OMIM	1	1240	17340	607300
HP:0003829	HP:0003829	Incomplete penetrance	0	PRRT2 CL E G H	112476	128200	Dystonia 10	128200	C1868682	OMIM	1	799	30500	614386
HP:0003829	HP:0003829	Incomplete penetrance	0	PRRT2 CL E G H	112476	605751	Seizures, benign familial infantile, 2	605751	C1853995	OMIM	1	799	30500	614386
HP:0003829	HP:0003829	Incomplete penetrance	0	PTCH1 CL E G H	5727	610828	Holoprosencephaly 7	610828	C1835820	OMIM	1	4487	9585	601309
HP:0003829	HP:0003829	Incomplete penetrance	0	PTCH2 CL E G H	8643	155255	Medulloblastoma	155255	C0025149	OMIM	1	791	9586	603673
HP:0003829	HP:0003829	Incomplete penetrance	0	PUM1 CL E G H	9698	617931	SPINOCEREBELLAR ATAXIA 47	617931	CN244564	OMIM	1	175	14957	607204
HP:0003829	HP:0003829	Incomplete penetrance	0	RELN CL E G H	5649	600512	Epilepsy, lateral temporal lobe, autosomal dominant	600512	C1838062	OMIM	1	2972	9957	600514
HP:0003829	HP:0003829	Incomplete penetrance	0	RPS29 CL E G H	6235	615909	Diamond-Blackfan anemia 13	615909	C4014641	OMIM	1	50	10419	603633
HP:0003829	HP:0003829	Incomplete penetrance	0	RTEL1 CL E G H	51750	616373	Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3	616373	C4225346	OMIM	1	2597	15888	608833
HP:0003829	HP:0003829	Incomplete penetrance	0	SCN1B CL E G H	6324	604233	Generalized epilepsy with febrile seizures plus, type 1	604233	C1858672	OMIM	1	511	10586	600235
HP:0003829	HP:0003829	Incomplete penetrance	0	SCN4A CL E G H	6329	170400	Hypokalemic periodic paralysis 1	170400	C3714580	OMIM	1	1765	10591	603967
HP:0003829	HP:0003829	Incomplete penetrance	0	SDHB CL E G H	6390	115310	Paragangliomas 4	115310	C1861848	OMIM	1	1249	10681	185470
HP:0003829	HP:0003829	Incomplete penetrance	0	SFTPC CL E G H	6440	610913	Surfactant metabolism dysfunction, pulmonary, 2	610913	C1970470	OMIM	1	215	10802	178620
HP:0003829	HP:0003829	Incomplete penetrance	0	SGCE CL E G H	8910	159900	Myoclonic dystonia	159900	C1834570	OMIM	1	568	10808	604149
HP:0003829	HP:0003829	Incomplete penetrance	0	SHH CL E G H	6469	142945	Holoprosencephaly 3	142945	C1840529	OMIM	1	429	10848	600725
HP:0003829	HP:0003829	Incomplete penetrance	0	SHH CL E G H	6469	611638	Microphthalmia, isolated, with coloboma 5	611638	C1968843	OMIM	1	429	10848	600725
HP:0003829	HP:0003829	Incomplete penetrance	0	SIX1 CL E G H	6495	113650	Melnick-Fraser syndrome	113650	C0265234	OMIM	1	195	10887	601205
HP:0003829	HP:0003829	Incomplete penetrance	0	SIX3 CL E G H	6496	157170	Holoprosencephaly 2	157170	C1834877	OMIM	1	183	10889	603714
HP:0003829	HP:0003829	Incomplete penetrance	0	SLC2A1 CL E G H	6513	612126	GLUT1 deficiency syndrome 2	612126	C1842534	OMIM	1	965	11005	138140
HP:0003829	HP:0003829	Incomplete penetrance	0	SMAD9 CL E G H	4093	615342	Primary pulmonary hypertension 2	615342	C3888002	OMIM	1	176	6774	603295
HP:0003829	HP:0003829	Incomplete penetrance	0	STAT1 CL E G H	6772	614892	Immunodeficiency 31a	614892	C4013950	OMIM	1	557	11362	600555
HP:0003829	HP:0003829	Incomplete penetrance	0	SUFU CL E G H	51684	155255	Medulloblastoma	155255	C0025149	OMIM	1	1306	16466	607035
HP:0003829	HP:0003829	Incomplete penetrance	0	TRPV4 CL E G H	59341	606071	Charcot-Marie-Tooth disease type 2C	606071	C2079540	OMIM	1	1018	18083	605427
HP:0003829	HP:0003829	Incomplete penetrance	0	TRPV4 CL E G H	59341	600175	Distal spinal muscular atrophy, congenital nonprogressive	600175	C1838492	OMIM	1	1018	18083	605427
HP:0003829	HP:0003829	Incomplete penetrance	0	TRPV4 CL E G H	59341	181405	Scapuloperoneal spinal muscular atrophy	181405	C0751335	OMIM	1	1018	18083	605427
HP:0003829	HP:0003829	Incomplete penetrance	0	TTN CL E G H	7273	600334	Distal myopathy Markesbery-Griggs type	600334	C1838244	OMIM	1	27503	12403	188840
HP:0003829	HP:0003829	Incomplete penetrance	0	VMA21 CL E G H	203547	310440	Myopathy, X-linked, with excessive autophagy	310440	C1839615	OMIM	1	254	22082	300913
HP:0003829	HP:0003829	Incomplete penetrance	0	VWF CL E G H	7450	193400	von Willebrand disease type 1	193400	C1264039	OMIM	1	1385	12726	613160
HP:0003829	HP:0003829	Incomplete penetrance	0	WNT10B CL E G H	7480	225300	Split-hand/foot malformation 6	225300	C2749665	OMIM	1	85	12775	601906
HP:0003829	HP:0003831	Age-dependent penetrance	1	ACTN4 CL E G H	81	603278	Focal segmental glomerulosclerosis 1	603278	C0333497	OMIM	1	308	166	604638
HP:0003829	HP:0003831	Age-dependent penetrance	1	ANO3 CL E G H	63982	615034	Dystonia 24	615034	C3554374	OMIM	1	477	14004	610110
HP:0003829	HP:0003831	Age-dependent penetrance	1	ANXA11 CL E G H	311	617839	AMYOTROPHIC LATERAL SCLEROSIS 23	617839	CN778765	OMIM	1	305	535	602572
HP:0003829	HP:0003831	Age-dependent penetrance	1	ATL1 CL E G H	51062	182600	Spastic paraplegia 3	182600	C2931355	OMIM	1	517	11231	606439
HP:0003829	HP:0003831	Age-dependent penetrance	1	ATP1A2 CL E G H	477	602481	Familial hemiplegic migraine type 2	602481	C1865322	OMIM	1	1117	800	182340
HP:0003829	HP:0003831	Age-dependent penetrance	1	ATP1A3 CL E G H	478	128235	Dystonia 12	128235	C1868681	OMIM	1	993	801	182350
HP:0003829	HP:0003831	Age-dependent penetrance	1	ATXN10 CL E G H	25814	603516	Spinocerebellar ataxia 10	603516	C1963674	OMIM	1	116	10549	611150
HP:0003829	HP:0003831	Age-dependent penetrance	1	BMPR2 CL E G H	659	178600	Primary pulmonary hypertension	178600	C0152171	OMIM	1	1028	1078	600799
HP:0003829	HP:0003831	Age-dependent penetrance	1	CACNA1A CL E G H	773	108500	Episodic ataxia type 2	108500	C1720416	OMIM	1	3248	1388	601011
HP:0003829	HP:0003831	Age-dependent penetrance	1	CACNA1S CL E G H	779	170400	Hypokalemic periodic paralysis 1	170400	C3714580	OMIM	1	1886	1397	114208
HP:0003829	HP:0003831	Age-dependent penetrance	1	CACNB4 CL E G H	785	613855	Episodic ataxia, type 5	613855	C1866039	OMIM	1	323	1404	601949
HP:0003829	HP:0003831	Age-dependent penetrance	1	CAV1 CL E G H	857	615343	Primary pulmonary hypertension 3	615343	C3809192	OMIM	1	135	1527	601047
HP:0003829	HP:0003831	Age-dependent penetrance	1	CFC1 CL E G H	55997	605376	Heterotaxy, visceral, 2, autosomal	605376	C1415817	OMIM	1	46	18292	605194
HP:0003829	HP:0003831	Age-dependent penetrance	1	CHRNA2 CL E G H	1135	610353	Epilepsy, nocturnal frontal lobe, type 4	610353	C1835905	OMIM	1	732	1956	118502
HP:0003829	HP:0003831	Age-dependent penetrance	1	CHRNA4 CL E G H	1137	600513	Epilepsy, nocturnal frontal lobe, type 1	600513	C1838049	OMIM	1	1017	1958	118504
HP:0003829	HP:0003831	Age-dependent penetrance	1	CLCN2 CL E G H	1181	605635	Hyperaldosteronism, familial, type II	605635	C1854107	OMIM	1	403	2020	600570
HP:0003829	HP:0003831	Age-dependent penetrance	1	COL4A2 CL E G H	1284	614483	Porencephaly 2	614483	C3280970	OMIM	1	1371	2203	120090
HP:0003829	HP:0003831	Age-dependent penetrance	1	CPOX CL E G H	1371	121300	Hereditary coproporphyria	121300	C0162531	OMIM	1	256	2321	612732
HP:0003829	HP:0003831	Age-dependent penetrance	1	CRELD1 CL E G H	78987	606217	Atrioventricular septal defect 2	606217	C1853508	OMIM	1	193	14630	607170
HP:0003829	HP:0003831	Age-dependent penetrance	1	CTLA4 CL E G H	1493	616100	Autoimmune lymphoproliferatiVe syndrome, type V	616100	C4015214	OMIM	1	232	2505	123890
HP:0003829	HP:0003831	Age-dependent penetrance	1	CTNNB1 CL E G H	1499	155255	Medulloblastoma	155255	C0025149	OMIM	1	624	2514	116806
HP:0003829	HP:0003831	Age-dependent penetrance	1	DCC CL E G H	1630	157600	Mirror movements 1	157600	C1834870	OMIM	1	259	2701	120470
HP:0003829	HP:0003831	Age-dependent penetrance	1	DCX CL E G H	1641	300067	Lissencephaly, X-linked	300067	C1848199	OMIM	1	423	2714	300121
HP:0003829	HP:0003831	Age-dependent penetrance	1	DEPDC5 CL E G H	9681	604364	Epilepsy, familial focal, with variable foci 1	604364	C1858477	OMIM	1	1975	18423	614191
HP:0003829	HP:0003831	Age-dependent penetrance	1	DSTYK CL E G H	25778	610805	Congenital anomalies of kidney and urinary tract 1, susceptibility to	610805	C1835826	OMIM	1	171	29043	612666
HP:0003829	HP:0003831	Age-dependent penetrance	1	ELOVL4 CL E G H	6785	133190	Erythrokeratodermia with ataxia	133190	C1851481	OMIM	1	297	14415	605512
HP:0003829	HP:0003831	Age-dependent penetrance	1	EYA1 CL E G H	2138	602588	Branchiootic syndrome	602588	C1865143	OMIM	1	513	3519	601653
HP:0003829	HP:0003831	Age-dependent penetrance	1	EYA1 CL E G H	2138	113650	Melnick-Fraser syndrome	113650	C0265234	OMIM	1	513	3519	601653
HP:0003829	HP:0003831	Age-dependent penetrance	1	FGF23 CL E G H	8074	193100	Autosomal dominant hypophosphatemic rickets	193100	C0342642	OMIM	1	226	3680	605380
HP:0003829	HP:0003831	Age-dependent penetrance	1	FGFR1 CL E G H	2260	147950	Kallmann syndrome 2	147950	C1563720	OMIM	1	936	3688	136350
HP:0003829	HP:0003831	Age-dependent penetrance	1	FH CL E G H	2271	150800	Multiple cutaneous leiomyomas	150800	C1708350	OMIM	1	1798	3700	136850
HP:0003829	HP:0003831	Age-dependent penetrance	1	FLCN CL E G H	201163	173600	Pneumothorax, primary spontaneous	173600	C1868193	OMIM	1	2185	27310	607273
HP:0003829	HP:0003831	Age-dependent penetrance	1	FMR1 CL E G H	2332	300624	Fragile X syndrome	300624	C0016667	OMIM	1	371	3775	309550
HP:0003829	HP:0003831	Age-dependent penetrance	1	GATA5 CL E G H	140628	617912	CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 5	617912	CN873437	OMIM	1	395	15802	611496
HP:0003829	HP:0003831	Age-dependent penetrance	1	GJA5 CL E G H	2702	612474	1q21.1 recurrent microdeletion	612474	C2675897	OMIM	1	516	4279	121013
HP:0003829	HP:0003831	Age-dependent penetrance	1	GJA8 CL E G H	2703	612474	1q21.1 recurrent microdeletion	612474	C2675897	OMIM	1	443	4281	600897
HP:0003829	HP:0003831	Age-dependent penetrance	1	GJB1 CL E G H	2705	302800	X-linked hereditary motor and sensory neuropathy	302800	C0393808	OMIM	1	860	4283	304040
HP:0003829	HP:0003831	Age-dependent penetrance	1	GJC2 CL E G H	57165	613480	Lymphedema, hereditary, IC	613480	C3150732	OMIM	1	323	17494	608803
HP:0003829	HP:0003831	Age-dependent penetrance	1	GLI2 CL E G H	2736	615849	Culler-Jones syndrome	615849	C4014479	OMIM	1	832	4318	165230
HP:0003829	HP:0003831	Age-dependent penetrance	1	GLI2 CL E G H	2736	610829	Holoprosencephaly 9	610829	C1835819	OMIM	1	832	4318	165230
HP:0003829	HP:0003831	Age-dependent penetrance	1	GREB1L CL E G H	80000	617805	RENAL HYPODYSPLASIA/APLASIA 3	617805	C4540497	OMIM	1	263	31042	617782
HP:0003829	HP:0003831	Age-dependent penetrance	1	GRIN2A CL E G H	2903	245570	Epilepsy, focal, with speech disorder and with or without mental retardation	245570	C1832814	OMIM	1	1836	4585	138253
HP:0003829	HP:0003831	Age-dependent penetrance	1	HNRNPDL CL E G H	9987	609115	Limb-girdle muscular dystrophy, type 1G	609115	C1836765	OMIM	1	354	5037	607137
HP:0003829	HP:0003831	Age-dependent penetrance	1	IFIH1 CL E G H	64135	615846	Aicardi-Goutieres syndrome 7	615846	C3888244	OMIM	1	1170	18873	606951
HP:0003829	HP:0003831	Age-dependent penetrance	1	IKZF1 CL E G H	10320	616873	Immunodeficiency, common variable, 13	616873	C4225173	OMIM	1	200	13176	603023
HP:0003829	HP:0003831	Age-dependent penetrance	1	JAG1 CL E G H	182	118450	Alagille syndrome 1	118450	C1956125	OMIM	1	1605	6188	601920
HP:0003829	HP:0003831	Age-dependent penetrance	1	KCNK3 CL E G H	3777	615344	Primary pulmonary hypertension 4	615344	C3809198	OMIM	1	185	6278	603220
HP:0003829	HP:0003831	Age-dependent penetrance	1	KIF11 CL E G H	3832	152950	Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation	152950	C1835265	OMIM	1	769	6388	148760
HP:0003829	HP:0003831	Age-dependent penetrance	1	KMT2B CL E G H	9757	617284	Dystonia 28, childhood-onset	617284	C4310633	OMIM	1	1303	15840	606834
HP:0003829	HP:0003831	Age-dependent penetrance	1	KRIT1 CL E G H	889	116860	Cerebral cavernous malformation	116860	C2919945	OMIM	1	578	1573	604214
HP:0003829	HP:0003831	Age-dependent penetrance	1	LGI1 CL E G H	9211	600512	Epilepsy, lateral temporal lobe, autosomal dominant	600512	C1838062	OMIM	1	443	6572	604619
HP:0003829	HP:0003831	Age-dependent penetrance	1	LRP5 CL E G H	4041	617875	POLYCYSTIC LIVER DISEASE 4 WITH OR WITHOUT KIDNEY CYSTS	617875	CN818987	OMIM	1	1819	6697	603506
HP:0003829	HP:0003831	Age-dependent penetrance	1	LRSAM1 CL E G H	90678	614436	Charcot-Marie-Tooth disease type 2P	614436	C3280797	OMIM	1	792	25135	610933
HP:0003829	HP:0003831	Age-dependent penetrance	1	MED13L CL E G H	23389	608808	Transposition of the great arteries, dextro-looped 1	608808	C1837341	OMIM	1	1047	22962	608771
HP:0003829	HP:0003831	Age-dependent penetrance	1	MET CL E G H	4233	605074	Renal cell carcinoma, papillary, 1	605074	C0007134	OMIM	1	3184	7029	164860
HP:0003829	HP:0003831	Age-dependent penetrance	1	MFN2 CL E G H	9927	609260	Charcot-Marie-Tooth disease, type 2A2A	609260	C1836485	OMIM	1	1222	16877	608507
HP:0003829	HP:0003831	Age-dependent penetrance	1	MICAL1 CL E G H	64780	600512	Epilepsy, lateral temporal lobe, autosomal dominant	600512	C1838062	OMIM	1	726	20619	607129
HP:0003829	HP:0003831	Age-dependent penetrance	1	MN1 CL E G H	4330	607174	Meningioma, familial	607174	C1333989	OMIM	1	222	7180	156100
HP:0003829	HP:0003831	Age-dependent penetrance	1	MNX1 CL E G H	3110	176450	Currarino triad	176450	C1531773	OMIM	1	327	4979	142994
HP:0003829	HP:0003831	Age-dependent penetrance	1	MSH6 CL E G H	2956	614350	Hereditary nonpolyposis colorectal cancer type 5	614350	C1833477	OMIM	1	8438	7329	600678
HP:0003829	HP:0003831	Age-dependent penetrance	1	MT-ATP6 CL E G H	4508	535000	Leber's optic atrophy	535000	C0917796	OMIM	1		7414	516060
HP:0003829	HP:0003831	Age-dependent penetrance	1	MT-CO3 CL E G H	4514	535000	Leber's optic atrophy	535000	C0917796	OMIM	1		7422	516050
HP:0003829	HP:0003831	Age-dependent penetrance	1	MT-CYB CL E G H	4519	535000	Leber's optic atrophy	535000	C0917796	OMIM	1		7427	516020
HP:0003829	HP:0003831	Age-dependent penetrance	1	MT-ND1 CL E G H	4535	535000	Leber's optic atrophy	535000	C0917796	OMIM	1		7455	516000
HP:0003829	HP:0003831	Age-dependent penetrance	1	MT-ND2 CL E G H	4536	535000	Leber's optic atrophy	535000	C0917796	OMIM	1		7456	516001
HP:0003829	HP:0003831	Age-dependent penetrance	1	MT-ND4 CL E G H	4538	535000	Leber's optic atrophy	535000	C0917796	OMIM	1		7459	516003
HP:0003829	HP:0003831	Age-dependent penetrance	1	MT-ND4L CL E G H	4539	535000	Leber's optic atrophy	535000	C0917796	OMIM	1		7460	516004
HP:0003829	HP:0003831	Age-dependent penetrance	1	MT-ND5 CL E G H	4540	535000	Leber's optic atrophy	535000	C0917796	OMIM	1		7461	516005
HP:0003829	HP:0003831	Age-dependent penetrance	1	MT-ND6 CL E G H	4541	535000	Leber's optic atrophy	535000	C0917796	OMIM	1		7462	516006
HP:0003829	HP:0003831	Age-dependent penetrance	1	NEXMIF CL E G H	340533	300912	Mental retardation, X-linked 98	300912	C3806730	OMIM	1	990	29433	300524
HP:0003829	HP:0003831	Age-dependent penetrance	1	NF2 CL E G H	4771	607174	Meningioma, familial	607174	C1333989	OMIM	1	1783	7773	607379
HP:0003829	HP:0003831	Age-dependent penetrance	1	NF2 CL E G H	4771	162091	Schwannomatosis 1	162091	C4048809	OMIM	1	1783	7773	607379
HP:0003829	HP:0003831	Age-dependent penetrance	1	NLRP12 CL E G H	91662	611762	Familial cold autoinflammatory syndrome 2	611762	C2673198	OMIM	1	1036	22938	609648
HP:0003829	HP:0003831	Age-dependent penetrance	1	NME1 CL E G H	4830	256700	Neuroblastoma	256700	C0027819	OMIM	1	16	7849	156490
HP:0003829	HP:0003831	Age-dependent penetrance	1	NPRL2 CL E G H	10641	617116	Epilepsy, familial focal, with variable foci 2	617116	C4310709	OMIM	1	87	24969	607072
HP:0003829	HP:0003831	Age-dependent penetrance	1	NPRL3 CL E G H	8131	617118	Epilepsy, familial focal, with variable foci 3	617118	C4310708	OMIM	1	898	14124	600928
HP:0003829	HP:0003831	Age-dependent penetrance	1	NR5A1 CL E G H	2516	617480	46,XX sex reversal 4	617480	C4479552	OMIM	1	251	7983	184757
HP:0003829	HP:0003831	Age-dependent penetrance	1	NRIP1 CL E G H	8204	618270	618270	618270		OMIM	1	212	8001	602490
HP:0003829	HP:0003831	Age-dependent penetrance	1	OPA1 CL E G H	4976	165500	Dominant hereditary optic atrophy	165500	C0338508	OMIM	1	1224	8140	605290
HP:0003829	HP:0003831	Age-dependent penetrance	1	PARN CL E G H	5073	616371	Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4	616371	C4225347	OMIM	1	627	8609	604212
HP:0003829	HP:0003831	Age-dependent penetrance	1	PAX2 CL E G H	5076	616002	Focal segmental glomerulosclerosis 7	616002	C4014925	OMIM	1	406	8616	167409
HP:0003829	HP:0003831	Age-dependent penetrance	1	PDGFB CL E G H	5155	607174	Meningioma, familial	607174	C1333989	OMIM	1	151	8800	190040
HP:0003829	HP:0003831	Age-dependent penetrance	1	PITX1 CL E G H	5307	119800	Talipes equinovarus	119800	C0009081	OMIM	1	85	9004	602149
HP:0003829	HP:0003831	Age-dependent penetrance	1	PKD2 CL E G H	5311	613095	Polycystic kidney disease 2	613095	C2751306	OMIM	1	840	9009	173910
HP:0003829	HP:0003831	Age-dependent penetrance	1	PRCC CL E G H	5546	605074	Renal cell carcinoma, papillary, 1	605074	C0007134	OMIM	1	28	9343	179755
HP:0003829	HP:0003831	Age-dependent penetrance	1	PRKCG CL E G H	5582	605361	Spinocerebellar ataxia 14	605361	C1854369	OMIM	1	323	9402	176980
HP:0003829	HP:0003831	Age-dependent penetrance	1	PROK2 CL E G H	60675	610628	Hypogonadotropic hypogonadism 4 with or without anosmia	610628	C1857720	OMIM	1	65	18455	607002
HP:0003829	HP:0003831	Age-dependent penetrance	1	PROKR2 CL E G H	128674	244200	Kallmann syndrome 3	244200	C2930927	OMIM	1	160	15836	607123
HP:0003829	HP:0003831	Age-dependent penetrance	1	PRPF31 CL E G H	26121	600138	Retinitis pigmentosa 11	600138	C1838601	OMIM	1	629	15446	606419
HP:0003829	HP:0003831	Age-dependent penetrance	1	PRPF8 CL E G H	10594	600059	Retinitis pigmentosa 13	600059	C1838702	OMIM	1	1240	17340	607300
HP:0003829	HP:0003831	Age-dependent penetrance	1	PRRT2 CL E G H	112476	128200	Dystonia 10	128200	C1868682	OMIM	1	799	30500	614386
HP:0003829	HP:0003831	Age-dependent penetrance	1	PRRT2 CL E G H	112476	605751	Seizures, benign familial infantile, 2	605751	C1853995	OMIM	1	799	30500	614386
HP:0003829	HP:0003831	Age-dependent penetrance	1	PTCH1 CL E G H	5727	610828	Holoprosencephaly 7	610828	C1835820	OMIM	1	4487	9585	601309
HP:0003829	HP:0003831	Age-dependent penetrance	1	PTCH2 CL E G H	8643	155255	Medulloblastoma	155255	C0025149	OMIM	1	791	9586	603673
HP:0003829	HP:0003831	Age-dependent penetrance	1	PUM1 CL E G H	9698	617931	SPINOCEREBELLAR ATAXIA 47	617931	CN244564	OMIM	1	175	14957	607204
HP:0003829	HP:0003831	Age-dependent penetrance	1	RELN CL E G H	5649	600512	Epilepsy, lateral temporal lobe, autosomal dominant	600512	C1838062	OMIM	1	2972	9957	600514
HP:0003829	HP:0003831	Age-dependent penetrance	1	RPS29 CL E G H	6235	615909	Diamond-Blackfan anemia 13	615909	C4014641	OMIM	1	50	10419	603633
HP:0003829	HP:0003831	Age-dependent penetrance	1	RTEL1 CL E G H	51750	616373	Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3	616373	C4225346	OMIM	1	2597	15888	608833
HP:0003829	HP:0003831	Age-dependent penetrance	1	SCN1B CL E G H	6324	604233	Generalized epilepsy with febrile seizures plus, type 1	604233	C1858672	OMIM	1	511	10586	600235
HP:0003829	HP:0003831	Age-dependent penetrance	1	SCN4A CL E G H	6329	170400	Hypokalemic periodic paralysis 1	170400	C3714580	OMIM	1	1765	10591	603967
HP:0003829	HP:0003831	Age-dependent penetrance	1	SDHB CL E G H	6390	115310	Paragangliomas 4	115310	C1861848	OMIM	1	1249	10681	185470
HP:0003829	HP:0003831	Age-dependent penetrance	1	SFTPC CL E G H	6440	610913	Surfactant metabolism dysfunction, pulmonary, 2	610913	C1970470	OMIM	1	215	10802	178620
HP:0003829	HP:0003831	Age-dependent penetrance	1	SGCE CL E G H	8910	159900	Myoclonic dystonia	159900	C1834570	OMIM	1	568	10808	604149
HP:0003829	HP:0003831	Age-dependent penetrance	1	SHH CL E G H	6469	142945	Holoprosencephaly 3	142945	C1840529	OMIM	1	429	10848	600725
HP:0003829	HP:0003831	Age-dependent penetrance	1	SHH CL E G H	6469	611638	Microphthalmia, isolated, with coloboma 5	611638	C1968843	OMIM	1	429	10848	600725
HP:0003829	HP:0003831	Age-dependent penetrance	1	SIX1 CL E G H	6495	113650	Melnick-Fraser syndrome	113650	C0265234	OMIM	1	195	10887	601205
HP:0003829	HP:0003831	Age-dependent penetrance	1	SIX3 CL E G H	6496	157170	Holoprosencephaly 2	157170	C1834877	OMIM	1	183	10889	603714
HP:0003829	HP:0003831	Age-dependent penetrance	1	SLC2A1 CL E G H	6513	612126	GLUT1 deficiency syndrome 2	612126	C1842534	OMIM	1	965	11005	138140
HP:0003829	HP:0003831	Age-dependent penetrance	1	SMAD9 CL E G H	4093	615342	Primary pulmonary hypertension 2	615342	C3888002	OMIM	1	176	6774	603295
HP:0003829	HP:0003831	Age-dependent penetrance	1	STAT1 CL E G H	6772	614892	Immunodeficiency 31a	614892	C4013950	OMIM	1	557	11362	600555
HP:0003829	HP:0003831	Age-dependent penetrance	1	SUFU CL E G H	51684	155255	Medulloblastoma	155255	C0025149	OMIM	1	1306	16466	607035
HP:0003829	HP:0003831	Age-dependent penetrance	1	TRPV4 CL E G H	59341	606071	Charcot-Marie-Tooth disease type 2C	606071	C2079540	OMIM	1	1018	18083	605427
HP:0003829	HP:0003831	Age-dependent penetrance	1	TRPV4 CL E G H	59341	600175	Distal spinal muscular atrophy, congenital nonprogressive	600175	C1838492	OMIM	1	1018	18083	605427
HP:0003829	HP:0003831	Age-dependent penetrance	1	TRPV4 CL E G H	59341	181405	Scapuloperoneal spinal muscular atrophy	181405	C0751335	OMIM	1	1018	18083	605427
HP:0003829	HP:0003831	Age-dependent penetrance	1	TTN CL E G H	7273	600334	Distal myopathy Markesbery-Griggs type	600334	C1838244	OMIM	1	27503	12403	188840
HP:0003829	HP:0003831	Age-dependent penetrance	1	VMA21 CL E G H	203547	310440	Myopathy, X-linked, with excessive autophagy	310440	C1839615	OMIM	1	254	22082	300913
HP:0003829	HP:0003831	Age-dependent penetrance	1	VWF CL E G H	7450	193400	von Willebrand disease type 1	193400	C1264039	OMIM	1	1385	12726	613160
HP:0003829	HP:0003831	Age-dependent penetrance	1	WNT10B CL E G H	7480	225300	Split-hand/foot malformation 6	225300	C2749665	OMIM	1	85	12775	601906
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0003829	HP:0003829	Incomplete penetrance	0	CHRNA7 CL E G H	1139	612001	15q13.3 microdeletion syndrome	612001	C2677613	OMIM	0	384	1960	118511
HP:0003829	HP:0003829	Incomplete penetrance	0	KLF13 CL E G H	51621	612001	15q13.3 microdeletion syndrome	612001	C2677613	OMIM	0	253	13672	605328
HP:0003829	HP:0003829	Incomplete penetrance	0	RAD51 CL E G H	5888	614508	Mirror movements 2	614508	C3281089	OMIM	0	358	9817	179617
HP:0003829	HP:0003829	Incomplete penetrance	0	THAP1 CL E G H	55145	602629	Dystonia 6, torsion	602629	C1414216	OMIM	0	206	20856	609520
HP:0003829	HP:0003829	Incomplete penetrance	0	TOR1A CL E G H	1861	128100	Dystonia 1	128100	C1851945	OMIM	0	220	3098	605204
HP:0003829	HP:0003831	Age-dependent penetrance	1	CHRNA7 CL E G H	1139	612001	15q13.3 microdeletion syndrome	612001	C2677613	OMIM	0	384	1960	118511
HP:0003829	HP:0003831	Age-dependent penetrance	1	KLF13 CL E G H	51621	612001	15q13.3 microdeletion syndrome	612001	C2677613	OMIM	0	253	13672	605328
HP:0003829	HP:0003831	Age-dependent penetrance	1	RAD51 CL E G H	5888	614508	Mirror movements 2	614508	C3281089	OMIM	0	358	9817	179617
HP:0003829	HP:0003831	Age-dependent penetrance	1	THAP1 CL E G H	55145	602629	Dystonia 6, torsion	602629	C1414216	OMIM	0	206	20856	609520
HP:0003829	HP:0003831	Age-dependent penetrance	1	TOR1A CL E G H	1861	128100	Dystonia 1	128100	C1851945	OMIM	0	220	3098	605204

Genes (128) :ACTN4 ANO3 ANXA11 ATL1 ATP1A2 ATP1A3 ATP6 ATXN10 BMPR2 CACNA1A CACNA1S CACNB4 CAV1 CFC1 CHRNA2 CHRNA4 CHRNA7 CLCN2 COL4A2 COX3 CPOX CRELD1 CTLA4 CTNNB1 CYTB DCC DCHS1 DCX DEPDC5 DSTYK ELOVL4 EYA1 FGF23 FGFR1 FH FLCN FMR1 GATA5 GJA5 GJA8 GJB1 GJC2 GLI2 GREB1L GRIN2A GUCY2D HNRNPDL IFIH1 IKZF1 JAG1 KCNK3 KIF11 KLF13 KMT2B KRIT1 LGI1 LRP5 LRSAM1 MED13L MET MFN2 MICAL1 MN1 MNX1 MSH6 MT-ATP6 MT-CO3 MT-CYB MT-ND1 MT-ND2 MT-ND4 MT-ND4L MT-ND5 MT-ND6 ND1 ND2 ND4 ND4L ND5 ND6 NEXMIF NF2 NLRP12 NME1 NPRL2 NPRL3 NR5A1 NRIP1 OPA1 PARN PAX2 PDGFB PITX1 PKD2 PRCC PRKCG PROK2 PROKR2 PRPF31 PRPF8 PRRT2 PTCH1 PTCH2 PUM1 RAD51 RELN RPS29 RTEL1 SCN1B SCN4A SDHB SFTPC SGCE SHH SIX1 SIX3 SLC2A1 SMAD9 STAT1 SUFU TENM4 THAP1 TOR1A TRPV4 TTN VMA21 VWF WNT10B

Diseases (107) :603278 615034 617839 182600 602481 128235 535000 603516 178600 108500 170400 613855 615343 605376 610353 600513 612001 605635 614483 121300 606217 616100 155255 157600 300067 604364 610805 133190 602588 113650 193100 147950 150800 173600 300624 617912 612474 302800 613480 615849 610829 617805 245570 609115 615846 616873 118450 615344 152950 617284 116860 600512 617875 614436 608808 605074 609260 607174 176450 614350 300912 162091 611762 256700 617116 617118 617480 618270 165500 616371 616002 119800 613095 605361 610628 244200 600138 600059 128200 605751 610828 617931 614508 615909 616373 604233 115310 610913 159900 142945 611638 157170 612126 615342 614892 602629 128100 606071 600175 181405 600334 310440 193400 225300 607829 601777 616736

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is August 2021 release.

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