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 course (HP:0031797)

Parent Node:
Onset (HP:0003674)

..Starting node
..Adult onset (HP:0003581)

Term ID:

3581

Name:

Adult onset

Synonym:

Onset in adulthood; Onset in early adulthood; Symptoms begin in adulthood

Definition:

Onset of disease manifestations in adulthood, defined here as at the age of 16 years or later.

Comments:

Reference:

HP:0003581

Genes and Diseases:

Child Nodes:

........

Late onset (HP:0003584)

........

Middle age onset (HP:0003596)

........

Young adult onset (HP:0011462)

Sister Nodes:

Antenatal onset (HP:0030674)

Childhood onset (HP:0011463)

Congenital onset (HP:0003577)

Infantile onset (HP:0003593)

Juvenile onset (HP:0003621)

Neonatal onset (HP:0003623)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0003581	HP:0003581	Adult onset	0	AAAS CL E G H	8086	13666	OMIM:231550	Achalasia-Addisonianism-Alacrima syndrome		57
HP:0003581	HP:0003581	Adult onset	0	AAGAB CL E G H	79719	25662	OMIM:148600	Palmoplantar keratoderma, punctate type IA		7
HP:0003581	HP:0003581	Adult onset	0	AARS1 CL E G H	16	20	OMIM:613287	Charcot-Marie-Tooth disease, axonal, type 2N
HP:0003581	HP:0003581	Adult onset	0	AARS1 CL E G H	16	20	OMIM:619661	LEUKOENCEPHALOPATHY, HEREDITARY DIFFUSE, WITH SPHEROIDS 2; HDLS2
HP:0003581	HP:0003581	Adult onset	0	ABCA4 CL E G H	24	34	OMIM:604116	CONE-ROD DYSTROPHY 3; CORD3		826
HP:0003581	HP:0003581	Adult onset	0	ABCA7 CL E G H	10347	37	OMIM:608907	Alzheimer disease 9, susceptibility to		3
HP:0003581	HP:0003581	Adult onset	0	ABCB4 CL E G H	5244	45	OMIM:600803	Gallbladder disease 1		111
HP:0003581	HP:0003581	Adult onset	0	ABCC1 CL E G H	4363	51	OMIM:618915	DEAFNESS, AUTOSOMAL DOMINANT 77; DFNA77		22
HP:0003581	HP:0003581	Adult onset	0	ABCC8 CL E G H	6833	59	OMIM:125853	Diabetes mellitus, noninsulin-dependent		245
HP:0003581	HP:0003581	Adult onset	0	ABCC9 CL E G H	10060	60	OMIM:614050	Atrial fibrillation, familial, 12		254
HP:0003581	HP:0003581	Adult onset	0	ABCC9 CL E G H	10060	60	OMIM:608569	CARDIOMYOPATHY, DILATED, 1O; CMD1O		254
HP:0003581	HP:0003581	Adult onset	0	ABCG8 CL E G H	64241	13887	OMIM:210250	Sitosterolemia 1		76
HP:0003581	HP:0003581	Adult onset	0	ABHD12 CL E G H	26090	15868	OMIM:612674	Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract		50
HP:0003581	HP:0003581	Adult onset	0	ACTA1 CL E G H	58	129	OMIM:616852	Myopathy, scapulohumeroperoneal		96
HP:0003581	HP:0003581	Adult onset	0	ACTC1 CL E G H	70	143	OMIM:613424	Cardiomyopathy, dilated, 1R		208
HP:0003581	HP:0003581	Adult onset	0	ACTC1 CL E G H	70	143	OMIM:612098	Cardiomyopathy, familial hypertrophic, 11		208
HP:0003581	HP:0003581	Adult onset	0	ACTG1 CL E G H	71	144	OMIM:604717	Deafness, autosomal dominant 20		123
HP:0003581	HP:0003581	Adult onset	0	ACTN2 CL E G H	88	164	OMIM:612158	Cardiomyopathy, dilated, 1aa, with or without left ventricular noncompaction		307
HP:0003581	HP:0003581	Adult onset	0	ADGRG2 CL E G H	10149	4516	OMIM:300985	Vas deferens, congenital bilateral aplasia of, X-linked		5
HP:0003581	HP:0003581	Adult onset	0	ADH1C CL E G H	126	251	OMIM:168600	Parkinson disease, late-onset		4
HP:0003581	HP:0003581	Adult onset	0	AFG3L2 CL E G H	10939	315	OMIM:610246	Spinocerebellar ataxia 28		86
HP:0003581	HP:0003581	Adult onset	0	AGBL1 CL E G H	123624	26504	OMIM:615523	Corneal dystrophy, fuchs endothelial, 8		3
HP:0003581	HP:0003581	Adult onset	0	AIP CL E G H	9049	358	OMIM:102200	Pituitary adenoma, growth hormone-secreting, 1		95
HP:0003581	HP:0003581	Adult onset	0	AKT1 CL E G H	207	391	OMIM:615109	Cowden syndrome 6	.	54
HP:0003581	HP:0003581	Adult onset	0	AKT2 CL E G H	208	392	OMIM:125853	Diabetes mellitus, noninsulin-dependent		12
HP:0003581	HP:0003581	Adult onset	0	ALDH18A1 CL E G H	5832	9722	OMIM:601162	Spastic paraplegia 9A, autosomal dominant		89
HP:0003581	HP:0003581	Adult onset	0	ALDH5A1 CL E G H	7915	408	OMIM:271980	Succinic semialdehyde dehydrogenase deficiency		108
HP:0003581	HP:0003581	Adult onset	0	ALG10B CL E G H	144245	31088	OMIM:613688	Long QT syndrome 2		3
HP:0003581	HP:0003581	Adult onset	0	ALG5 CL E G H	29880	20266	OMIM:620056
HP:0003581	HP:0003581	Adult onset	0	ALOX5AP CL E G H	241	436	OMIM:601367	STROKE, ISCHEMIC		1
HP:0003581	HP:0003581	Adult onset	0	AMACR CL E G H	23600	451	OMIM:614307	Alpha-methylacyl-CoA racemase deficiency		44
HP:0003581	HP:0003581	Adult onset	0	ANKH CL E G H	56172	15492	OMIM:118600	Chondrocalcinosis 2	.	164
HP:0003581	HP:0003581	Adult onset	0	ANLN CL E G H	54443	14082	OMIM:616032	Focal segmental glomerulosclerosis 8		6
HP:0003581	HP:0003581	Adult onset	0	ANO3 CL E G H	63982	14004	OMIM:615034	Dystonia 24		17
HP:0003581	HP:0003581	Adult onset	0	ANO5 CL E G H	203859	27337	OMIM:613319	Miyoshi muscular dystrophy 3	.	304
HP:0003581	HP:0003581	Adult onset	0	ANXA11 CL E G H	311	535	OMIM:617839	Amyotrophic lateral sclerosis 23
HP:0003581	HP:0003581	Adult onset	0	ANXA11 CL E G H	311	535	OMIM:619733	INCLUSION BODY MYOPATHY AND BRAIN WHITE MATTER ABNORMALITIES; IBMWMA
HP:0003581	HP:0003581	Adult onset	0	AOPEP CL E G H	84909	1361	OMIM:619565	DYSTONIA 31; DYT31
HP:0003581	HP:0003581	Adult onset	0	APC CL E G H	324	583	OMIM:135290	Desmoid disease, hereditary		3179
HP:0003581	HP:0003581	Adult onset	0	APOA1 CL E G H	335	600	OMIM:618463	HYPOALPHALIPOPROTEINEMIA, PRIMARY, 2		40
HP:0003581	HP:0003581	Adult onset	0	APOE CL E G H	348	613	OMIM:104310	Alzheimer disease 2		39
HP:0003581	HP:0003581	Adult onset	0	APOE CL E G H	348	613	OMIM:607822	Alzheimer disease 3	.	39
HP:0003581	HP:0003581	Adult onset	0	APOE CL E G H	348	613	OMIM:606889	Alzheimer disease 4		39
HP:0003581	HP:0003581	Adult onset	0	APOE CL E G H	348	613	OMIM:603075	Macular degeneration, age-related, 1		39
HP:0003581	HP:0003581	Adult onset	0	APOE CL E G H	348	613	OMIM:269600	Sea-Blue histiocyte disease		39
HP:0003581	HP:0003581	Adult onset	0	APP CL E G H	351	620	OMIM:104300	Alzheimer disease		74
HP:0003581	HP:0003581	Adult onset	0	APTX CL E G H	54840	15984	OMIM:208920	Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia	.	61
HP:0003581	HP:0003581	Adult onset	0	AR CL E G H	367	644	OMIM:313200	Spinal and bulbar muscular atrophy, X-linked 1	.	125
HP:0003581	HP:0003581	Adult onset	0	ARHGEF10 CL E G H	9639	14103	OMIM:608236	Slowed nerve conduction velocity, autosomal dominant	.	12
HP:0003581	HP:0003581	Adult onset	0	ARMC5 CL E G H	79798	25781	OMIM:615954	ACTH-independent macronodular adrenal hyperplasia 2		7
HP:0003581	HP:0003581	Adult onset	0	ASTL CL E G H	431705	31704	OMIM:619643	OOCYTE MATURATION DEFECT 11; OOMD11
HP:0003581	HP:0003581	Adult onset	0	ATL1 CL E G H	51062	11231	OMIM:613708	Neuropathy, hereditary sensory, type ID	.	71
HP:0003581	HP:0003581	Adult onset	0	ATN1 CL E G H	1822	3033	OMIM:125370	Dentatorubral-Pallidoluysian atrophy naito-oyanagi disease haw river syndrome ataxia, chorea, seizures, and dementia		16
HP:0003581	HP:0003581	Adult onset	0	ATP11A CL E G H	23250	13552	OMIM:619810	DEAFNESS, AUTOSOMAL DOMINANT 84; DFNA84
HP:0003581	HP:0003581	Adult onset	0	ATP13A2 CL E G H	23400	30213	OMIM:606693	Kufor-Rakeb syndrome		100
HP:0003581	HP:0003581	Adult onset	0	ATP13A2 CL E G H	23400	30213	OMIM:617225	SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE; SPG78		100
HP:0003581	HP:0003581	Adult onset	0	ATP1A1 CL E G H	476	799	OMIM:618036	Charcot-Marie-Tooth disease, axonal, type 2DD		4
HP:0003581	HP:0003581	Adult onset	0	ATP1A2 CL E G H	477	800	OMIM:602481	Migraine, familial hemiplegic, 2		239
HP:0003581	HP:0003581	Adult onset	0	ATP1A3 CL E G H	478	801	OMIM:128235	Dystonia 12		150
HP:0003581	HP:0003581	Adult onset	0	ATP2B2 CL E G H	491	815	OMIM:619804	DEAFNESS, AUTOSOMAL DOMINANT 82; DFNA82		5
HP:0003581	HP:0003581	Adult onset	0	ATP5MC3 CL E G H	518	843	OMIM:619681	DYSTONIA, EARLY-ONSET, AND/OR SPASTIC PARAPLEGIA; DYTSPG
HP:0003581	HP:0003581	Adult onset	0	ATP6AP2 CL E G H	10159	18305	OMIM:300911	Parkinsonism with spasticity, X-linked		36
HP:0003581	HP:0003581	Adult onset	0	ATP6V0A1 CL E G H	535	865	OMIM:619971			1
HP:0003581	HP:0003581	Adult onset	0	ATP7B CL E G H	540	870	OMIM:277900	Wilson disease		315
HP:0003581	HP:0003581	Adult onset	0	ATXN1 CL E G H	6310	10548	OMIM:164400	Spinocerebellar ataxia 1		19
HP:0003581	HP:0003581	Adult onset	0	ATXN10 CL E G H	25814	10549	OMIM:603516	Spinocerebellar ataxia 10		9
HP:0003581	HP:0003581	Adult onset	0	ATXN2 CL E G H	6311	10555	OMIM:168600	Parkinson disease, late-onset		11
HP:0003581	HP:0003581	Adult onset	0	ATXN2 CL E G H	6311	10555	OMIM:183090	Spinocerebellar ataxia 2		11
HP:0003581	HP:0003581	Adult onset	0	ATXN3 CL E G H	4287	7106	OMIM:109150	Machado-Joseph disease		14
HP:0003581	HP:0003581	Adult onset	0	ATXN8OS CL E G H	6315	10561	OMIM:168600	Parkinson disease, late-onset		1
HP:0003581	HP:0003581	Adult onset	0	AUH CL E G H	549	890	OMIM:250950	3-methylglutaconic aciduria, type I		49
HP:0003581	HP:0003581	Adult onset	0	AURKC CL E G H	6795	11391	OMIM:243060	Male infertility with large-headed, multiflagellar, polyploid spermatozoa		12
HP:0003581	HP:0003581	Adult onset	0	B2M CL E G H	567	914	OMIM:241600	Immunodeficiency 43		8
HP:0003581	HP:0003581	Adult onset	0	BAG3 CL E G H	9531	939	OMIM:613881	Cardiomyopathy, dilated, 1hh		204
HP:0003581	HP:0003581	Adult onset	0	BAG5 CL E G H	9529	941	OMIM:619747	CARDIOMYOPATHY, DILATED, 2F; CMD2F
HP:0003581	HP:0003581	Adult onset	0	BAP1 CL E G H	8314	950	OMIM:606661	MELANOMA, UVEAL, SUSCEPTIBILITY TO, 2		184
HP:0003581	HP:0003581	Adult onset	0	BAP1 CL E G H	8314	950	OMIM:614327	Tumor predisposition syndrome		184
HP:0003581	HP:0003581	Adult onset	0	BCL10 CL E G H	8915	989	OMIM:137245	Gastric lymphoma, primary		18
HP:0003581	HP:0003581	Adult onset	0	BEAN1 CL E G H	146227	24160	OMIM:117210	Spinocerebellar ataxia 31		1
HP:0003581	HP:0003581	Adult onset	0	BLK CL E G H	640	1057	OMIM:613375	Maturity-onset diabetes of the young, type 11		75
HP:0003581	HP:0003581	Adult onset	0	BLVRA CL E G H	644	1062	OMIM:614156	Hyperbiliverdinemia		2
HP:0003581	HP:0003581	Adult onset	0	BMPR2 CL E G H	659	1078	OMIM:178600	Pulmonary hypertension, primary, 1		525
HP:0003581	HP:0003581	Adult onset	0	BPGM CL E G H	669	1093	OMIM:222800	Erythrocytosis, familial, 8		2
HP:0003581	HP:0003581	Adult onset	0	BPY2 CL E G H	9083	13508	OMIM:415000	SPERMATOGENIC FAILURE, NONOBSTRUCTIVE, Y-LINKED
HP:0003581	HP:0003581	Adult onset	0	BRCA1 CL E G H	672	1100	OMIM:604370	Breast-Ovarian cancer, familial, susceptibility to, 1		5769
HP:0003581	HP:0003581	Adult onset	0	BSCL2 CL E G H	26580	15832	OMIM:619112	NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VC; HMN5C		105
HP:0003581	HP:0003581	Adult onset	0	BTNL2 CL E G H	56244	1142	OMIM:612387	Sarcoidosis, susceptibility to, 2		1
HP:0003581	HP:0003581	Adult onset	0	BVES CL E G H	11149	1152	OMIM:616812	Muscular dystrophy, limb-girdle, autosomal recessive 25		2
HP:0003581	HP:0003581	Adult onset	0	C14ORF39 CL E G H	317761	19849	OMIM:619203	PREMATURE OVARIAN FAILURE 18; POF18
HP:0003581	HP:0003581	Adult onset	0	C14ORF39 CL E G H	317761	19849	OMIM:619202	SPERMATOGENIC FAILURE 52; SPGF52
HP:0003581	HP:0003581	Adult onset	0	C19ORF12 CL E G H	83636	25443	OMIM:614298	Neurodegeneration with brain iron accumulation 4		114
HP:0003581	HP:0003581	Adult onset	0	C1QBP CL E G H	708	1243	OMIM:617713	Combined oxidative phosphorylation deficiency 33	HP:0040284 - Very rare
HP:0003581	HP:0003581	Adult onset	0	C2CD6 CL E G H	151254	14438	OMIM:619805	SPERMATOGENIC FAILURE 68; SPGF68		1
HP:0003581	HP:0003581	Adult onset	0	C3 CL E G H	718	1318	OMIM:612925	Hemolytic uremic syndrome, atypical, susceptibility to, 5		92
HP:0003581	HP:0003581	Adult onset	0	C9 CL E G H	735	1358	OMIM:615591	MACULAR DEGENERATION, AGE-RELATED, 15; ARMD15		10
HP:0003581	HP:0003581	Adult onset	0	C9ORF72 CL E G H	203228	28337	OMIM:105550	Amyotrophic lateral sclerosis and/or frontotemporal dementia 1	.	56
HP:0003581	HP:0003581	Adult onset	0	CACNA1A CL E G H	773	1388	OMIM:141500	Migraine, familial hemiplegic, 1		449
HP:0003581	HP:0003581	Adult onset	0	CACNA1C CL E G H	775	1390	OMIM:618447	LONG QT SYNDROME 8; LQT8		572
HP:0003581	HP:0003581	Adult onset	0	CACNB4 CL E G H	785	1404	OMIM:607682	Epilepsy, idiopathic generalized, susceptibility to, 9		146
HP:0003581	HP:0003581	Adult onset	0	CACNB4 CL E G H	785	1404	OMIM:613855	Episodic ataxia, type 5		146
HP:0003581	HP:0003581	Adult onset	0	CADM3 CL E G H	57863	17601	OMIM:619519	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2FF; CMT2FF		1
HP:0003581	HP:0003581	Adult onset	0	CAPN3 CL E G H	825	1480	OMIM:618129	Muscular dystrophy, limb-girdle, autosomal dominant 4	.	323
HP:0003581	HP:0003581	Adult onset	0	CARD9 CL E G H	64170	16391	OMIM:212050	Candidiasis, familial chronic mucocutaneous, autosomal recessive		45
HP:0003581	HP:0003581	Adult onset	0	CASK CL E G H	8573	1497	OMIM:300908	Anemia, nonspherocytic hemolytic, due to g6pd deficiency		118
HP:0003581	HP:0003581	Adult onset	0	CASQ2 CL E G H	845	1513	OMIM:604772	VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY; CPVT1		129
HP:0003581	HP:0003581	Adult onset	0	CASR CL E G H	846	1514	OMIM:601198	Hypocalcemia, autosomal dominant 1		272
HP:0003581	HP:0003581	Adult onset	0	CATIP CL E G H	375307	25062	OMIM:619379	SPERMATOGENIC FAILURE 54; SPGF54
HP:0003581	HP:0003581	Adult onset	0	CATSPER1 CL E G H	117144	17116	OMIM:612997	Spermatogenic failure 7		45
HP:0003581	HP:0003581	Adult onset	0	CATSPER2 CL E G H	117155	18810	OMIM:612997	Spermatogenic failure 7		12
HP:0003581	HP:0003581	Adult onset	0	CAV1 CL E G H	857	1527	OMIM:606721	Lipodystrophy, familial partial, type 7		11
HP:0003581	HP:0003581	Adult onset	0	CAV1 CL E G H	857	1527	OMIM:615343	Pulmonary hypertension, primary, 3		11
HP:0003581	HP:0003581	Adult onset	0	CAV3 CL E G H	859	1529	OMIM:611818	Long QT syndrome 9		148
HP:0003581	HP:0003581	Adult onset	0	CAV3 CL E G H	859	1529	OMIM:606072	Rippling muscle disease	HP:0040282 - Frequent	148
HP:0003581	HP:0003581	Adult onset	0	CC2D2A CL E G H	57545	29253	OMIM:619845	RETINITIS PIGMENTOSA 93; RP93		247
HP:0003581	HP:0003581	Adult onset	0	CCDC34 CL E G H	91057	25079	OMIM:620084
HP:0003581	HP:0003581	Adult onset	0	CCDC39 CL E G H	339829	25244	OMIM:613807	Ciliary dyskinesia, primary, 14		126
HP:0003581	HP:0003581	Adult onset	0	CCDC62 CL E G H	84660	30723	OMIM:619803	SPERMATOGENIC FAILURE 67; SPGF67
HP:0003581	HP:0003581	Adult onset	0	CCDC88C CL E G H	440193	19967	OMIM:616053	Spinocerebellar ataxia 40	.	54
HP:0003581	HP:0003581	Adult onset	0	CCND1 CL E G H	595	1582	OMIM:254500	Multiple myeloma		1
HP:0003581	HP:0003581	Adult onset	0	CCND1 CL E G H	595	1582	OMIM:193300	Von hippel-lindau syndrome		1
HP:0003581	HP:0003581	Adult onset	0	CCNF CL E G H	899	1591	OMIM:619141	FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 5; FTDALS5
HP:0003581	HP:0003581	Adult onset	0	CD164 CL E G H	8763	1632	OMIM:616969	DEAFNESS, AUTOSOMAL DOMINANT 66; DFNA66		1
HP:0003581	HP:0003581	Adult onset	0	CDH1 CL E G H	999	1748	OMIM:137215	Gastric cancer, hereditary diffuse		1003
HP:0003581	HP:0003581	Adult onset	0	CDH2 CL E G H	1000	1759	OMIM:618920	ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 14; ARVD14
HP:0003581	HP:0003581	Adult onset	0	CDH23 CL E G H	64072	13733	OMIM:617540	Pituitary adenoma 5, multiple types	.	636
HP:0003581	HP:0003581	Adult onset	0	CDY1 CL E G H	9085	1809	OMIM:415000	SPERMATOGENIC FAILURE, NONOBSTRUCTIVE, Y-LINKED
HP:0003581	HP:0003581	Adult onset	0	CDY2A CL E G H	9426	1810	OMIM:415000	SPERMATOGENIC FAILURE, NONOBSTRUCTIVE, Y-LINKED
HP:0003581	HP:0003581	Adult onset	0	CEBPE CL E G H	1053	1836	OMIM:260570	Pelger-Huet-Like anomaly and episodic fever with abdominal pain		3
HP:0003581	HP:0003581	Adult onset	0	CEP78 CL E G H	84131	25740	OMIM:617236	CONE-ROD DYSTROPHY AND HEARING LOSS; CRDHL		9
HP:0003581	HP:0003581	Adult onset	0	CFAP43 CL E G H	80217	26684	OMIM:617592	Spermatogenic failure 19		6
HP:0003581	HP:0003581	Adult onset	0	CFAP44 CL E G H	55779	25631	OMIM:617593	Spermatogenic failure 20		1
HP:0003581	HP:0003581	Adult onset	0	CFAP58 CL E G H	159686	26676	OMIM:619144	SPERMATOGENIC FAILURE 49; SPGF49
HP:0003581	HP:0003581	Adult onset	0	CFH CL E G H	3075	4883	OMIM:610698	Macular degeneration, age-related, 4		86
HP:0003581	HP:0003581	Adult onset	0	CFHR1 CL E G H	3078	4888	OMIM:603075	Macular degeneration, age-related, 1
HP:0003581	HP:0003581	Adult onset	0	CFHR3 CL E G H	10878	16980	OMIM:603075	Macular degeneration, age-related, 1
HP:0003581	HP:0003581	Adult onset	0	CFI CL E G H	3426	5394	OMIM:612923	Hemolytic uremic syndrome, atypical, susceptibility to, 3		57
HP:0003581	HP:0003581	Adult onset	0	CHCHD10 CL E G H	400916	15559	OMIM:615911	Frontotemporal dementia and/or amyotrophic lateral sclerosis 2		11
HP:0003581	HP:0003581	Adult onset	0	CHCHD10 CL E G H	400916	15559	OMIM:615048	Spinal muscular atrophy, Jokela type		11
HP:0003581	HP:0003581	Adult onset	0	CHMP2B CL E G H	25978	24537	OMIM:600795	Frontotemporal dementia and/or amytrophic lateral sclerosis 7		42
HP:0003581	HP:0003581	Adult onset	0	CHRNA1 CL E G H	1134	1955	OMIM:601462	Myasthenic syndrome, congenital, 1A, slow-channel		74
HP:0003581	HP:0003581	Adult onset	0	CHRNA2 CL E G H	1135	1956	OMIM:610353	Epilepsy, nocturnal frontal lobe, 4		188
HP:0003581	HP:0003581	Adult onset	0	CLCN1 CL E G H	1180	2019	OMIM:160800	Myotonia congenita, autosomal dominant		133
HP:0003581	HP:0003581	Adult onset	0	CLCN1 CL E G H	1180	2019	OMIM:255700	Myotonia congenita, autosomal recessive		133
HP:0003581	HP:0003581	Adult onset	0	CLCN2 CL E G H	1181	2020	OMIM:615651	Leukoencephalopathy with ataxia		44
HP:0003581	HP:0003581	Adult onset	0	CLEC3B CL E G H	7123	11891	OMIM:619977
HP:0003581	HP:0003581	Adult onset	0	CLN6 CL E G H	54982	2077	OMIM:204300	Ceroid lipofuscinosis, neuronal, 4A, autosomal recessive	.	143
HP:0003581	HP:0003581	Adult onset	0	CNBP CL E G H	7555	13164	OMIM:602668	Dystrophia myotonica 2		1
HP:0003581	HP:0003581	Adult onset	0	COCH CL E G H	1690	2180	OMIM:601369	Deafness, autosomal dominant 9		46
HP:0003581	HP:0003581	Adult onset	0	COL2A1 CL E G H	1280	2200	OMIM:608805	Avascular necrosis of femoral head, primary, 1		284
HP:0003581	HP:0003581	Adult onset	0	COL4A1 CL E G H	1282	2202	OMIM:618564	MICROANGIOPATHY AND LEUKOENCEPHALOPATHY, PONTINE, AUTOSOMAL DOMINANT; PADMAL		193
HP:0003581	HP:0003581	Adult onset	0	COL4A1 CL E G H	1282	2202	OMIM:180000	Retinal arteries, tortuosity of		193
HP:0003581	HP:0003581	Adult onset	0	COL6A3 CL E G H	1293	2213	OMIM:616411	Dystonia 27		702
HP:0003581	HP:0003581	Adult onset	0	COQ2 CL E G H	27235	25223	OMIM:146500	Multiple system atrophy 1, susceptibility to	.	54
HP:0003581	HP:0003581	Adult onset	0	CORIN CL E G H	10699	19012	OMIM:614595	Preeclampsia/eclampsia 5		5
HP:0003581	HP:0003581	Adult onset	0	CP CL E G H	1356	2295	OMIM:604290	ACERULOPLASMINEMIA	.	115
HP:0003581	HP:0003581	Adult onset	0	CPOX CL E G H	1371	2321	OMIM:121300	Coproporphyria		72
HP:0003581	HP:0003581	Adult onset	0	CPT1C CL E G H	126129	18540	OMIM:616282	Spastic paraplegia 73, autosomal dominant	.	1
HP:0003581	HP:0003581	Adult onset	0	CPT2 CL E G H	1376	2330	OMIM:255110	Carnitine palmitoyltransferase II deficiency, myopathic, stress-induced		101
HP:0003581	HP:0003581	Adult onset	0	CRYAB CL E G H	1410	2389	OMIM:615184	Cardiomyopathy, dilated, 1ii		46
HP:0003581	HP:0003581	Adult onset	0	CRYAB CL E G H	1410	2389	OMIM:608810	Myopathy, myofibrillar, 2, mfm2	.	46
HP:0003581	HP:0003581	Adult onset	0	CSF1R CL E G H	1436	2433	OMIM:221820	Leukoencephalopathy, diffuse hereditary, with spheroids	.	149
HP:0003581	HP:0003581	Adult onset	0	CSRP3 CL E G H	8048	2472	OMIM:607482	CARDIOMYOPATHY, DILATED, 1M; CMD1M		104
HP:0003581	HP:0003581	Adult onset	0	CSRP3 CL E G H	8048	2472	OMIM:612124	Cardiomyopathy, familial hypertrophic, 12		104
HP:0003581	HP:0003581	Adult onset	0	CTNS CL E G H	1497	2518	OMIM:219750	Cystinosis, adult nonnephropathic		178
HP:0003581	HP:0003581	Adult onset	0	CTSF CL E G H	8722	2531	OMIM:615362	Ceroid lipofuscinosis, neuronal, 13	.	20
HP:0003581	HP:0003581	Adult onset	0	CYLD CL E G H	1540	2584	OMIM:605041	Brooke-Spiegler syndrome	.	126
HP:0003581	HP:0003581	Adult onset	0	CYLD CL E G H	1540	2584	OMIM:132700	Cylindromatosis, familial	.	126
HP:0003581	HP:0003581	Adult onset	0	CYLD CL E G H	1540	2584	OMIM:619132	FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 8; FTDALS8		126
HP:0003581	HP:0003581	Adult onset	0	CYLD CL E G H	1540	2584	OMIM:601606	Trichoepithelioma, multiple familial, 1	.	126
HP:0003581	HP:0003581	Adult onset	0	CYP11B1 CL E G H	1584	2591	OMIM:103900	Glucocorticoid-Remediable aldosteronism		112
HP:0003581	HP:0003581	Adult onset	0	CYP27A1 CL E G H	1593	2605	OMIM:213700	Cerebrotendinous xanthomatosis		114
HP:0003581	HP:0003581	Adult onset	0	CYP7B1 CL E G H	9420	2652	OMIM:270800	Spastic paraplegia 5A, autosomal recessive		57
HP:0003581	HP:0003581	Adult onset	0	DAZ1 CL E G H	1617	2682	OMIM:415000	SPERMATOGENIC FAILURE, NONOBSTRUCTIVE, Y-LINKED
HP:0003581	HP:0003581	Adult onset	0	DAZ2 CL E G H	57055	15964	OMIM:415000	SPERMATOGENIC FAILURE, NONOBSTRUCTIVE, Y-LINKED
HP:0003581	HP:0003581	Adult onset	0	DAZ3 CL E G H	57054	15965	OMIM:415000	SPERMATOGENIC FAILURE, NONOBSTRUCTIVE, Y-LINKED
HP:0003581	HP:0003581	Adult onset	0	DCTN1 CL E G H	1639	2711	OMIM:105400	Amyotrophic lateral sclerosis 1		86
HP:0003581	HP:0003581	Adult onset	0	DCTN1 CL E G H	1639	2711	OMIM:607641	Neuronopathy, distal hereditary motor, type VIIB	.	86
HP:0003581	HP:0003581	Adult onset	0	DCTN1 CL E G H	1639	2711	OMIM:168605	Perry syndrome		86
HP:0003581	HP:0003581	Adult onset	0	DDX3Y CL E G H	8653	2699	OMIM:415000	SPERMATOGENIC FAILURE, NONOBSTRUCTIVE, Y-LINKED
HP:0003581	HP:0003581	Adult onset	0	DDX41 CL E G H	51428	18674	OMIM:616871	Myeloproliferative/lymphoproliferative neoplasms, familial (multiple types), susceptibility to	.	23
HP:0003581	HP:0003581	Adult onset	0	DES CL E G H	1674	2770	OMIM:604765	CARDIOMYOPATHY, DILATED, 1I; CMD1I		263
HP:0003581	HP:0003581	Adult onset	0	DES CL E G H	1674	2770	OMIM:601419	Myopathy, myofibrillar, 1		263
HP:0003581	HP:0003581	Adult onset	0	DGUOK CL E G H	1716	2858	OMIM:617070	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4	.	57
HP:0003581	HP:0003581	Adult onset	0	DHTKD1 CL E G H	55526	23537	OMIM:615025	Charcot-Marie-Tooth disease, axonal, type 2Q		12
HP:0003581	HP:0003581	Adult onset	0	DIAPH2 CL E G H	1730	2877	OMIM:300511	Premature ovarian failure 2A		6
HP:0003581	HP:0003581	Adult onset	0	DIAPH3 CL E G H	81624	15480	OMIM:609129	Auditory neuropathy, autosomal dominant, 1		8
HP:0003581	HP:0003581	Adult onset	0	DMD CL E G H	1756	2928	OMIM:300376	Muscular dystrophy, Becker type	.	1496
HP:0003581	HP:0003581	Adult onset	0	DNAH17 CL E G H	8632	2946	OMIM:618643	SPERMATOGENIC FAILURE 39; SPGF39		37
HP:0003581	HP:0003581	Adult onset	0	DNAH8 CL E G H	1769	2952	OMIM:619095	SPERMATOGENIC FAILURE 46; SPGF46		153
HP:0003581	HP:0003581	Adult onset	0	DNAJB11 CL E G H	51726	14889	OMIM:618061	Polycystic kidney disease 6 with or without polycystic liver disease	.
HP:0003581	HP:0003581	Adult onset	0	DNAJB6 CL E G H	10049	14888	OMIM:603511	Muscular dystrophy, limb-girdle, type 1E	.	103
HP:0003581	HP:0003581	Adult onset	0	DNAJC3 CL E G H	5611	9439	OMIM:616192	Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus		3
HP:0003581	HP:0003581	Adult onset	0	DNAJC30 CL E G H	84277	16410	OMIM:619382	LEBER HEREDITARY OPTIC NEUROPATHY, AUTOSOMAL RECESSIVE; LHONAR
HP:0003581	HP:0003581	Adult onset	0	DNAJC5 CL E G H	80331	16235	OMIM:162350	Ceroid lipofuscinosis, neuronal, 4B, autosomal dominant	.	155
HP:0003581	HP:0003581	Adult onset	0	DNHD1 CL E G H	144132	26532	OMIM:619712	SPERMATOGENIC FAILURE 65; SPGF65
HP:0003581	HP:0003581	Adult onset	0	DNMT1 CL E G H	1786	2976	OMIM:604121	Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant	.	145
HP:0003581	HP:0003581	Adult onset	0	DNMT3B CL E G H	1789	2979	OMIM:619478	FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 4, DIGENIC; FSHD4		79
HP:0003581	HP:0003581	Adult onset	0	DPM3 CL E G H	54344	3007	OMIM:612937	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 15; MDDGC15		9
HP:0003581	HP:0003581	Adult onset	0	DPY19L2 CL E G H	283417	19414	OMIM:613958	Spermatogenic failure 9		17
HP:0003581	HP:0003581	Adult onset	0	DRD5 CL E G H	1816	3026	OMIM:606798	Blepharospasm, benign essential, susceptibility to		3
HP:0003581	HP:0003581	Adult onset	0	DSC2 CL E G H	1824	3036	OMIM:610476	Arrhythmogenic right ventricular dysplasia, familial, 11		268
HP:0003581	HP:0003581	Adult onset	0	DSG2 CL E G H	1829	3049	OMIM:610193	Arrhythmogenic right ventricular dysplasia, familial, 10		358
HP:0003581	HP:0003581	Adult onset	0	DSG2 CL E G H	1829	3049	OMIM:612877	CARDIOMYOPATHY, DILATED, 1BB; CMD1BB		358
HP:0003581	HP:0003581	Adult onset	0	DSP CL E G H	1832	3052	OMIM:607450	Arrhythmogenic right ventricular dysplasia, familial, 8		747
HP:0003581	HP:0003581	Adult onset	0	DTNA CL E G H	1837	3057	OMIM:604169	Left ventricular noncompaction 1		163
HP:0003581	HP:0003581	Adult onset	0	DYSF CL E G H	8291	3097	OMIM:254130	Miyoshi muscular dystrophy 1	HP:0040282 - Frequent	600
HP:0003581	HP:0003581	Adult onset	0	DYSF CL E G H	8291	3097	OMIM:253601	Muscular dystrophy, limb-girdle, type 2B		600
HP:0003581	HP:0003581	Adult onset	0	EEF2 CL E G H	1938	3214	OMIM:609306	Spinocerebellar ataxia 26	.	4
HP:0003581	HP:0003581	Adult onset	0	EIF2AK2 CL E G H	5610	9437	OMIM:619687	DYSTONIA 33; DYT33
HP:0003581	HP:0003581	Adult onset	0	EIF2AK4 CL E G H	440275	19687	OMIM:234810	PULMONARY VENOOCCLUSIVE DISEASE 2, AUTOSOMAL RECESSIVE; PVOD2		40
HP:0003581	HP:0003581	Adult onset	0	ELMOD3 CL E G H	84173	26158	OMIM:619500	DEAFNESS, AUTOSOMAL DOMINANT 81; DFNA81		1
HP:0003581	HP:0003581	Adult onset	0	ELOVL4 CL E G H	6785	14415	OMIM:133190	Spinocerebellar ataxia 34		62
HP:0003581	HP:0003581	Adult onset	0	ENG CL E G H	2022	3349	OMIM:187300	Telangiectasia, hereditary hemorrhagic, type 1		186
HP:0003581	HP:0003581	Adult onset	0	ENO3 CL E G H	2027	3354	OMIM:612932	Glycogen storage disease XIII	.	34
HP:0003581	HP:0003581	Adult onset	0	ENPP1 CL E G H	5167	3356	OMIM:125853	Diabetes mellitus, noninsulin-dependent		151
HP:0003581	HP:0003581	Adult onset	0	EPAS1 CL E G H	2034	3374	OMIM:611783	ERYTHROCYTOSIS, FAMILIAL, 4; ECYT4		112
HP:0003581	HP:0003581	Adult onset	0	EPCAM CL E G H	4072	11529	OMIM:613244	Colorectal cancer, hereditary nonpolyposis, type 8		170
HP:0003581	HP:0003581	Adult onset	0	ERBB4 CL E G H	2066	3432	OMIM:615515	Amyotrophic lateral sclerosis 19	.	15
HP:0003581	HP:0003581	Adult onset	0	ERCC6 CL E G H	2074	3438	OMIM:616946	PREMATURE OVARIAN FAILURE 11; POF11		199
HP:0003581	HP:0003581	Adult onset	0	F2 CL E G H	2147	3535	OMIM:601367	STROKE, ISCHEMIC		44
HP:0003581	HP:0003581	Adult onset	0	F5 CL E G H	2153	3542	OMIM:600880	Budd-Chiari syndrome		159
HP:0003581	HP:0003581	Adult onset	0	F5 CL E G H	2153	3542	OMIM:614389	Pregnancy loss, recurrent, susceptibility to, 1		159
HP:0003581	HP:0003581	Adult onset	0	F5 CL E G H	2153	3542	OMIM:601367	STROKE, ISCHEMIC		159
HP:0003581	HP:0003581	Adult onset	0	F5 CL E G H	2153	3542	OMIM:188055	Thrombophilia due to deficiency of activated protein C cofactor	.	159
HP:0003581	HP:0003581	Adult onset	0	F8 CL E G H	2157	3546	OMIM:301071	THROMBOPHILIA, X-LINKED, DUE TO FACTOR VIII DEFECT; THPH13		303
HP:0003581	HP:0003581	Adult onset	0	FAT2 CL E G H	2196	3596	OMIM:617769	Spinocerebellar ataxia 45	.	2
HP:0003581	HP:0003581	Adult onset	0	FBLN5 CL E G H	10516	3602	OMIM:619764	CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1H; CMT1H		63
HP:0003581	HP:0003581	Adult onset	0	FBLN5 CL E G H	10516	3602	OMIM:608895	Macular degeneration, age-related, 3		63
HP:0003581	HP:0003581	Adult onset	0	FBN1 CL E G H	2200	3603	OMIM:129600	ECTOPIA LENTIS 1, ISOLATED, AUTOSOMAL DOMINANT; ECTOL1		1361
HP:0003581	HP:0003581	Adult onset	0	FBXO43 CL E G H	286151	28521	OMIM:619696	SPERMATOGENIC FAILURE 64; SPGF64
HP:0003581	HP:0003581	Adult onset	0	FHL1 CL E G H	2273	3702	OMIM:300696	Myopathy, X-linked, with postural muscle atrophy		68
HP:0003581	HP:0003581	Adult onset	0	FHL1 CL E G H	2273	3702	OMIM:300695	Scapuloperoneal myopathy, X-linked dominant	.	68
HP:0003581	HP:0003581	Adult onset	0	FHOD3 CL E G H	80206	26178	OMIM:619402	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 28; CMH28
HP:0003581	HP:0003581	Adult onset	0	FIG4 CL E G H	9896	16873	OMIM:612577	Amyotrophic lateral sclerosis 11		111
HP:0003581	HP:0003581	Adult onset	0	FKBP6 CL E G H	8468	3722	OMIM:620103
HP:0003581	HP:0003581	Adult onset	0	FKTN CL E G H	2218	3622	OMIM:611615	Cardiomyopathy, dilated, 1X		184
HP:0003581	HP:0003581	Adult onset	0	FLNC CL E G H	2318	3756	OMIM:617047	Cardiomyopathy, familial hypertrophic, 26		197
HP:0003581	HP:0003581	Adult onset	0	FLNC CL E G H	2318	3756	OMIM:609524	Filaminopathy, autosomal dominant	.	197
HP:0003581	HP:0003581	Adult onset	0	FLNC CL E G H	2318	3756	OMIM:614065	Myopathy, distal, 4		197
HP:0003581	HP:0003581	Adult onset	0	FMR1 CL E G H	2332	3775	OMIM:300623	Fragile X tremor/ataxia syndrome		30
HP:0003581	HP:0003581	Adult onset	0	FMR1 CL E G H	2332	3775	OMIM:311360	Premature ovarian failure 1		30
HP:0003581	HP:0003581	Adult onset	0	FN1 CL E G H	2335	3778	OMIM:601894	Glomerulopathy with fibronectin deposits 2		9
HP:0003581	HP:0003581	Adult onset	0	FOXC1 CL E G H	2296	3800	OMIM:601631	Anterior segment dysgenesis 3		63
HP:0003581	HP:0003581	Adult onset	0	FOXE3 CL E G H	2301	3808	OMIM:617349	AORTIC ANEURYSM, FAMILIAL THORACIC 11, SUSCEPTIBILITY TO; AAT11		23
HP:0003581	HP:0003581	Adult onset	0	FSHB CL E G H	2488	3964	OMIM:229070	Hypogonadotropic hypogonadism 24 without anosmia		23
HP:0003581	HP:0003581	Adult onset	0	FTL CL E G H	2512	3999	OMIM:606159	Neurodegeneration with brain iron accumulation 3		33
HP:0003581	HP:0003581	Adult onset	0	FZD4 CL E G H	8322	4042	OMIM:133780	Exudative vitreoretinopathy 1		109
HP:0003581	HP:0003581	Adult onset	0	G6PD CL E G H	2539	4057	OMIM:300908	Anemia, nonspherocytic hemolytic, due to g6pd deficiency		101
HP:0003581	HP:0003581	Adult onset	0	GAA CL E G H	2548	4065	OMIM:232300	Glycogen storage disease II		407
HP:0003581	HP:0003581	Adult onset	0	GALC CL E G H	2581	4115	OMIM:245200	Krabbe disease		160
HP:0003581	HP:0003581	Adult onset	0	GANAB CL E G H	23193	4138	OMIM:600666	Polycystic kidney disease 3		6
HP:0003581	HP:0003581	Adult onset	0	GARS1 CL E G H	2617	4162	OMIM:601472	Charcot-Marie-Tooth disease, axonal, type 2D
HP:0003581	HP:0003581	Adult onset	0	GARS1 CL E G H	2617	4162	OMIM:600794	Neuronopathy, distal hereditary motor, type VA
HP:0003581	HP:0003581	Adult onset	0	GATAD1 CL E G H	57798	29941	OMIM:614672	Cardiomyopathy, dilated, 2B		35
HP:0003581	HP:0003581	Adult onset	0	GBA1 CL E G H	2629	4177	OMIM:231000	Gaucher disease, type III	.
HP:0003581	HP:0003581	Adult onset	0	GBA1 CL E G H	2629	4177	OMIM:168600	Parkinson disease, late-onset
HP:0003581	HP:0003581	Adult onset	0	GBE1 CL E G H	2632	4180	OMIM:263570	Polyglucosan body neuropathy, adult form	.	86
HP:0003581	HP:0003581	Adult onset	0	GBF1 CL E G H	8729	4181	OMIM:606483	Charcot-Marie-Tooth disease, dominant intermediate A
HP:0003581	HP:0003581	Adult onset	0	GCGR CL E G H	2642	4192	OMIM:619290	MAHVASH DISEASE; MVAH		1
HP:0003581	HP:0003581	Adult onset	0	GCK CL E G H	2645	4195	OMIM:125853	Diabetes mellitus, noninsulin-dependent		237
HP:0003581	HP:0003581	Adult onset	0	GCK CL E G H	2645	4195	OMIM:602485	Hyperinsulinemic hypoglycemia, familial, 3		237
HP:0003581	HP:0003581	Adult onset	0	GCNA CL E G H	93953	15805	OMIM:301077	SPERMATOGENIC FAILURE, X-LINKED, 4; SPGFX4
HP:0003581	HP:0003581	Adult onset	0	GDAP2 CL E G H	54834	18010	OMIM:618369	Spinocerebellar ataxia, autosomal recessive 27	.
HP:0003581	HP:0003581	Adult onset	0	GFAP CL E G H	2670	4235	OMIM:203450	Alexander disease		188
HP:0003581	HP:0003581	Adult onset	0	GGCX CL E G H	2677	4247	OMIM:610842	PSEUDOXANTHOMA ELASTICUM-LIKE DISORDER WITH MULTIPLE COAGULATION FACTOR DEFICIENCY		129
HP:0003581	HP:0003581	Adult onset	0	GGN CL E G H	199720	18869	OMIM:619826	SPERMATOGENIC FAILURE 69; SPGF69
HP:0003581	HP:0003581	Adult onset	0	GIPC1 CL E G H	10755	1226	OMIM:618940	OCULOPHARYNGODISTAL MYOPATHY 2; OPDM2
HP:0003581	HP:0003581	Adult onset	0	GJA5 CL E G H	2702	4279	OMIM:614049	Atrial fibrillation, familial, 11		39
HP:0003581	HP:0003581	Adult onset	0	GLUD2 CL E G H	2747	4336	OMIM:168600	Parkinson disease, late-onset		1
HP:0003581	HP:0003581	Adult onset	0	GNAI2 CL E G H	2771	4385	OMIM:192605	Ventricular tachycardia, familial		4
HP:0003581	HP:0003581	Adult onset	0	GNAL CL E G H	2774	4388	OMIM:615073	Dystonia 25		13
HP:0003581	HP:0003581	Adult onset	0	GNAS CL E G H	2778	4392	OMIM:219080	ACTH-independent macronodular adrenal hyperplasia	.	101
HP:0003581	HP:0003581	Adult onset	0	GNE CL E G H	10020	23657	OMIM:605820	Nonaka myopathy	.	173
HP:0003581	HP:0003581	Adult onset	0	GPD2 CL E G H	2820	4456	OMIM:125853	Diabetes mellitus, noninsulin-dependent		3
HP:0003581	HP:0003581	Adult onset	0	GPIHBP1 CL E G H	338328	24945	OMIM:615947	Hyperlipoproteinemia, type ID		12
HP:0003581	HP:0003581	Adult onset	0	GRN CL E G H	2896	4601	OMIM:614706	Ceroid lipofuscinosis, neuronal, 11		126
HP:0003581	HP:0003581	Adult onset	0	GSN CL E G H	2934	4620	OMIM:105120	Amyloidosis, Finnish type	.	53
HP:0003581	HP:0003581	Adult onset	0	GYG1 CL E G H	2992	4699	OMIM:613507	Glycogen storage disease XV		18
HP:0003581	HP:0003581	Adult onset	0	GYG1 CL E G H	2992	4699	OMIM:616199	Polyglucosan body myopathy 2		18
HP:0003581	HP:0003581	Adult onset	0	H6PD CL E G H	9563	4795	OMIM:604931	Cortisone reductase deficiency 1		8
HP:0003581	HP:0003581	Adult onset	0	HAMP CL E G H	57817	15598	OMIM:613313	Hemochromatosis, type 2B		15
HP:0003581	HP:0003581	Adult onset	0	HAVCR2 CL E G H	84868	18437	OMIM:618398	T-CELL LYMPHOMA, SUBCUTANEOUS PANNICULITIS-LIKE
HP:0003581	HP:0003581	Adult onset	0	HCN4 CL E G H	10021	16882	OMIM:163800	Sick sinus syndrome 2		185
HP:0003581	HP:0003581	Adult onset	0	HFE CL E G H	3077	4886	OMIM:104300	Alzheimer disease		38
HP:0003581	HP:0003581	Adult onset	0	HFE CL E G H	3077	4886	OMIM:176200	Porphyria variegata		38
HP:0003581	HP:0003581	Adult onset	0	HGD CL E G H	3081	4892	OMIM:203500	Alkaptonuria		77
HP:0003581	HP:0003581	Adult onset	0	HINT1 CL E G H	3094	4912	OMIM:137200	Neuromyotonia and axonal neuropathy, autosomal recessive		12
HP:0003581	HP:0003581	Adult onset	0	HJV CL E G H	148738	4887	OMIM:602390	Hemochromatosis, type 2A
HP:0003581	HP:0003581	Adult onset	0	HK1 CL E G H	3098	4922	OMIM:617460	Retinitis pigmentosa 79		11
HP:0003581	HP:0003581	Adult onset	0	HKDC1 CL E G H	80201	23302	OMIM:619614	RETINITIS PIGMENTOSA 92; RP92		2
HP:0003581	HP:0003581	Adult onset	0	HLA-DQB1 CL E G H	3119	4944	OMIM:123400	Creutzfeldt-Jakob disease
HP:0003581	HP:0003581	Adult onset	0	HLA-DQB1 CL E G H	3119	4944	OMIM:126200	Multiple sclerosis, susceptibility to
HP:0003581	HP:0003581	Adult onset	0	HLA-DRB1 CL E G H	3123	4948	OMIM:126200	Multiple sclerosis, susceptibility to		2
HP:0003581	HP:0003581	Adult onset	0	HLA-DRB1 CL E G H	3123	4948	OMIM:181000	Sarcoidosis, susceptibility to, 1		2
HP:0003581	HP:0003581	Adult onset	0	HMCN1 CL E G H	83872	19194	OMIM:603075	Macular degeneration, age-related, 1		262
HP:0003581	HP:0003581	Adult onset	0	HMGA1 CL E G H	3159	5010	OMIM:125853	Diabetes mellitus, noninsulin-dependent		1
HP:0003581	HP:0003581	Adult onset	0	HNF1A CL E G H	6927	11621	OMIM:125853	Diabetes mellitus, noninsulin-dependent		161
HP:0003581	HP:0003581	Adult onset	0	HNF1B CL E G H	6928	11630	OMIM:125853	Diabetes mellitus, noninsulin-dependent		90
HP:0003581	HP:0003581	Adult onset	0	HNF4A CL E G H	3172	5024	OMIM:125853	Diabetes mellitus, noninsulin-dependent		138
HP:0003581	HP:0003581	Adult onset	0	HNRNPA1 CL E G H	3178	5031	OMIM:615424	Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 3		31
HP:0003581	HP:0003581	Adult onset	0	HNRNPDL CL E G H	9987	5037	OMIM:609115	Limb-girdle muscular dystrophy, type 1G	.	5
HP:0003581	HP:0003581	Adult onset	0	HPRT1 CL E G H	3251	5157	OMIM:300322	Lesch-Nyhan syndrome		76
HP:0003581	HP:0003581	Adult onset	0	HSFY1 CL E G H	86614	18568	OMIM:415000	SPERMATOGENIC FAILURE, NONOBSTRUCTIVE, Y-LINKED		1
HP:0003581	HP:0003581	Adult onset	0	HSPB1 CL E G H	3315	5246	OMIM:608634	Neuronopathy, distal hereditary motor, type IIB	.	47
HP:0003581	HP:0003581	Adult onset	0	HSPB3 CL E G H	8988	5248	OMIM:613376	Neuronopathy, distal hereditary motor, type IIC		13
HP:0003581	HP:0003581	Adult onset	0	HSPB8 CL E G H	26353	30171	OMIM:608673	Charcot-Marie-Tooth disease, axonal, type 2L		38
HP:0003581	HP:0003581	Adult onset	0	HTRA1 CL E G H	5654	9476	OMIM:600142	Autosomal recessive cerebral arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL)		34
HP:0003581	HP:0003581	Adult onset	0	HTRA1 CL E G H	5654	9476	OMIM:616779	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2		34
HP:0003581	HP:0003581	Adult onset	0	ICOS CL E G H	29851	5351	OMIM:607594	Immunodeficiency, common variable, 1		32
HP:0003581	HP:0003581	Adult onset	0	IDS CL E G H	3423	5389	OMIM:309900	Mucopolysaccharidosis, type II		86
HP:0003581	HP:0003581	Adult onset	0	IFIH1 CL E G H	64135	18873	OMIM:182250	Singleton-Merten syndrome 1		28
HP:0003581	HP:0003581	Adult onset	0	IFT140 CL E G H	9742	29077	OMIM:617781	Retinitis pigmentosa 80		148
HP:0003581	HP:0003581	Adult onset	0	IFT74 CL E G H	80173	21424	OMIM:619585	SPERMATOGENIC FAILURE 58; SPGF58		3
HP:0003581	HP:0003581	Adult onset	0	IGF2BP2 CL E G H	10644	28867	OMIM:125853	Diabetes mellitus, noninsulin-dependent		1
HP:0003581	HP:0003581	Adult onset	0	IKZF1 CL E G H	10320	13176	OMIM:616873	IMMUNODEFICIENCY, COMMON VARIABLE, 13; CVID13		8
HP:0003581	HP:0003581	Adult onset	0	IL36RN CL E G H	26525	15561	OMIM:614204	PSORIASIS 14, PUSTULAR; PSORS14		51
HP:0003581	HP:0003581	Adult onset	0	IL6 CL E G H	3569	6018	OMIM:125853	Diabetes mellitus, noninsulin-dependent		2
HP:0003581	HP:0003581	Adult onset	0	IMPG1 CL E G H	3617	6055	OMIM:616151	Macular dystrophy, vitelliform, 4		4
HP:0003581	HP:0003581	Adult onset	0	IMPG2 CL E G H	50939	18362	OMIM:616152	Macular dystrophy, vitelliform, 5		120
HP:0003581	HP:0003581	Adult onset	0	INF2 CL E G H	64423	23791	OMIM:613237	FOCAL SEGMENTAL GLOMERULOSCLEROSIS 5; FSGS5		135
HP:0003581	HP:0003581	Adult onset	0	INSR CL E G H	3643	6091	OMIM:609968	Hyperinsulinemic hypoglycemia, familial, 5		229
HP:0003581	HP:0003581	Adult onset	0	IRS1 CL E G H	3667	6125	OMIM:125853	Diabetes mellitus, noninsulin-dependent		5
HP:0003581	HP:0003581	Adult onset	0	IRS2 CL E G H	8660	6126	OMIM:125853	Diabetes mellitus, noninsulin-dependent		3
HP:0003581	HP:0003581	Adult onset	0	ITM2B CL E G H	9445	6174	OMIM:616079	Retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities		3
HP:0003581	HP:0003581	Adult onset	0	ITPR1 CL E G H	3708	6180	OMIM:606658	Spinocerebellar ataxia 15	.	177
HP:0003581	HP:0003581	Adult onset	0	JAG2 CL E G H	3714	6189	OMIM:619566	MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 27; LGMDR27		1
HP:0003581	HP:0003581	Adult onset	0	JAK2 CL E G H	3717	6192	OMIM:600880	Budd-Chiari syndrome		57
HP:0003581	HP:0003581	Adult onset	0	JAK2 CL E G H	3717	6192	OMIM:263300	Polycythemia vera		57
HP:0003581	HP:0003581	Adult onset	0	JPH2 CL E G H	57158	14202	OMIM:613873	Cardiomyopathy, familial hypertrophic, 17		111
HP:0003581	HP:0003581	Adult onset	0	JUP CL E G H	3728	6207	OMIM:611528	ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 12; ARVD12		222
HP:0003581	HP:0003581	Adult onset	0	KCNA5 CL E G H	3741	6224	OMIM:612240	Atrial fibrillation, familial, 7		38
HP:0003581	HP:0003581	Adult onset	0	KCNC3 CL E G H	3748	6235	OMIM:605259	Spinocerebellar ataxia 13		17
HP:0003581	HP:0003581	Adult onset	0	KCND3 CL E G H	3752	6239	OMIM:616399	Brugada syndrome 9		35
HP:0003581	HP:0003581	Adult onset	0	KCNE1 CL E G H	3753	6240	OMIM:613695	Long QT syndrome 5		148
HP:0003581	HP:0003581	Adult onset	0	KCNE2 CL E G H	9992	6242	OMIM:611493	ATRIAL FIBRILLATION, FAMILIAL, 4; ATFB4		43
HP:0003581	HP:0003581	Adult onset	0	KCNE2 CL E G H	9992	6242	OMIM:613693	Long QT syndrome 6		43
HP:0003581	HP:0003581	Adult onset	0	KCNH2 CL E G H	3757	6251	OMIM:613688	Long QT syndrome 2		901
HP:0003581	HP:0003581	Adult onset	0	KCNJ11 CL E G H	3767	6257	OMIM:125853	Diabetes mellitus, noninsulin-dependent		127
HP:0003581	HP:0003581	Adult onset	0	KCNJ18 CL E G H	100134444	39080	OMIM:613239	Thyrotoxic periodic paralysis, susceptibility to, 2		10
HP:0003581	HP:0003581	Adult onset	0	KCNJ2 CL E G H	3759	6263	OMIM:170390	Andersen cardiodysrhythmic periodic paralysis		193
HP:0003581	HP:0003581	Adult onset	0	KCNJ2 CL E G H	3759	6263	OMIM:613980	Atrial fibrillation, familial, 9		193
HP:0003581	HP:0003581	Adult onset	0	KCNJ5 CL E G H	3762	6266	OMIM:613485	Long QT syndrome 13		128
HP:0003581	HP:0003581	Adult onset	0	KCNK3 CL E G H	3777	6278	OMIM:615344	Pulmonary hypertension, primary, 4		7
HP:0003581	HP:0003581	Adult onset	0	KCNQ1 CL E G H	3784	6294	OMIM:607554	Atrial fibrillation, familial, 3		730
HP:0003581	HP:0003581	Adult onset	0	KCTD17 CL E G H	79734	25705	OMIM:616398	Dystonia 26, myoclonic		1
HP:0003581	HP:0003581	Adult onset	0	KDM5D CL E G H	8284	11115	OMIM:415000	SPERMATOGENIC FAILURE, NONOBSTRUCTIVE, Y-LINKED
HP:0003581	HP:0003581	Adult onset	0	KIF1B CL E G H	23095	16636	OMIM:118210	Charcot-Marie-Tooth disease, axonal, type 2A1		202
HP:0003581	HP:0003581	Adult onset	0	KIF5A CL E G H	3798	6323	OMIM:617921	Amyotrophic lateral sclerosis, susceptibility to, 25	.	93
HP:0003581	HP:0003581	Adult onset	0	KLKB1 CL E G H	3818	6371	OMIM:612423	PREKALLIKREIN DEFICIENCY		8
HP:0003581	HP:0003581	Adult onset	0	KNG1 CL E G H	3827	6383	OMIM:619363	ANGIOEDEMA, HEREDITARY, 6; HAE6		7
HP:0003581	HP:0003581	Adult onset	0	KRAS CL E G H	3845	6407	OMIM:260350	Pancreatic cancer		196
HP:0003581	HP:0003581	Adult onset	0	KRT18 CL E G H	3875	6430	OMIM:215600	Cirrhosis, familial		19
HP:0003581	HP:0003581	Adult onset	0	LAMA2 CL E G H	3908	6482	OMIM:618138	MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23; LGMDR23		411
HP:0003581	HP:0003581	Adult onset	0	LAMA4 CL E G H	3910	6484	OMIM:615235	Cardiomyopathy, dilated, 1jj		279
HP:0003581	HP:0003581	Adult onset	0	LDB3 CL E G H	11155	15710	OMIM:601493	Cardiomyopathy, dilated, 1C, with or without left ventricular noncompaction		286
HP:0003581	HP:0003581	Adult onset	0	LDB3 CL E G H	11155	15710	OMIM:609452	Myopathy, myofibrillar, 4		286
HP:0003581	HP:0003581	Adult onset	0	LGI1 CL E G H	9211	6572	OMIM:600512	EPILEPSY, FAMILIAL TEMPORAL LOBE, 1; ETL1		75
HP:0003581	HP:0003581	Adult onset	0	LHB CL E G H	3972	6584	OMIM:228300	Hypogonadotropic hypogonadism 23 without anosmia		9
HP:0003581	HP:0003581	Adult onset	0	LIG3 CL E G H	3980	6600	OMIM:619780	MITOCHONDRIAL DNA DEPLETION SYNDROME 20 (MNGIE TYPE); MTDPS20		1
HP:0003581	HP:0003581	Adult onset	0	LIG4 CL E G H	3981	6601	OMIM:254500	Multiple myeloma		88
HP:0003581	HP:0003581	Adult onset	0	LIPC CL E G H	3990	6619	OMIM:125853	Diabetes mellitus, noninsulin-dependent		35
HP:0003581	HP:0003581	Adult onset	0	LIPE CL E G H	3991	6621	OMIM:615980	Lipodystrophy, familial partial, type 6		7
HP:0003581	HP:0003581	Adult onset	0	LITAF CL E G H	9516	16841	OMIM:601098	Charcot-Marie-Tooth disease, demyelinating, type 1C		74
HP:0003581	HP:0003581	Adult onset	0	LMF1 CL E G H	64788	14154	OMIM:246650	LIPASE DEFICIENCY, COMBINED		3
HP:0003581	HP:0003581	Adult onset	0	LMNA CL E G H	4000	6636	OMIM:115200	Cardiomyopathy, dilated, 1A		645
HP:0003581	HP:0003581	Adult onset	0	LMNA CL E G H	4000	6636	OMIM:181350	Emery-Dreifuss muscular dystrophy 2, autosomal dominant		645
HP:0003581	HP:0003581	Adult onset	0	LMNA CL E G H	4000	6636	OMIM:151660	Lipodystrophy, familial partial, type 2		645
HP:0003581	HP:0003581	Adult onset	0	LMNB1 CL E G H	4001	6637	OMIM:169500	Leukodystrophy, adult-onset, autosomal dominant		44
HP:0003581	HP:0003581	Adult onset	0	LMX1B CL E G H	4010	6654	OMIM:256020	NAIL-PATELLA-LIKE RENAL DISEASE		165
HP:0003581	HP:0003581	Adult onset	0	LRIF1 CL E G H	55791	30299	OMIM:619477	FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 3, DIGENIC; FSHD3
HP:0003581	HP:0003581	Adult onset	0	LRP12 CL E G H	29967	31708	OMIM:164310	Oculopharyngodistal myopathy 1
HP:0003581	HP:0003581	Adult onset	0	LRP5 CL E G H	4041	6697	OMIM:133780	Exudative vitreoretinopathy 1		125
HP:0003581	HP:0003581	Adult onset	0	LRP6 CL E G H	4040	6698	OMIM:610947	Coronary artery disease, autosomal dominant 2		26
HP:0003581	HP:0003581	Adult onset	0	LRRK2 CL E G H	120892	18618	OMIM:607060	Parkinson disease 8, autosomal dominant		221
HP:0003581	HP:0003581	Adult onset	0	LYST CL E G H	1130	1968	OMIM:214500	Chediak-Higashi syndrome		239
HP:0003581	HP:0003581	Adult onset	0	LZTR1 CL E G H	8216	6742	OMIM:615670	Schwannomatosis 2		43
HP:0003581	HP:0003581	Adult onset	0	M1AP CL E G H	130951	25183	OMIM:619108	SPERMATOGENIC FAILURE 48; SPGF48
HP:0003581	HP:0003581	Adult onset	0	MAFA CL E G H	389692	23145	OMIM:147630	Insulinomatosis and diabetes mellitus
HP:0003581	HP:0003581	Adult onset	0	MAFB CL E G H	9935	6408	OMIM:166300	Multicentric carpotarsal osteolysis syndrome		63
HP:0003581	HP:0003581	Adult onset	0	MAGT1 CL E G H	84061	28880	OMIM:300853	IMMUNODEFICIENCY, X-LINKED, WITH MAGNESIUM DEFECT, EPSTEIN-BARR VIRUS INFECTION, AND NEOPLASIA; XMEN		17
HP:0003581	HP:0003581	Adult onset	0	MAK CL E G H	4117	6816	OMIM:614181	Retinitis pigmentosa 62		53
HP:0003581	HP:0003581	Adult onset	0	MAP1B CL E G H	4131	6836	OMIM:619808	DEAFNESS, AUTOSOMAL DOMINANT 83; DFNA83
HP:0003581	HP:0003581	Adult onset	0	MAPK8IP1 CL E G H	9479	6882	OMIM:125853	Diabetes mellitus, noninsulin-dependent		1
HP:0003581	HP:0003581	Adult onset	0	MAPT CL E G H	4137	6893	OMIM:600274	Frontotemporal dementia		140
HP:0003581	HP:0003581	Adult onset	0	MAPT CL E G H	4137	6893	OMIM:168600	Parkinson disease, late-onset		140
HP:0003581	HP:0003581	Adult onset	0	MAPT CL E G H	4137	6893	OMIM:260540	Supranuclear palsy, progressive atypical	.	140
HP:0003581	HP:0003581	Adult onset	0	MAPT CL E G H	4137	6893	OMIM:601104	Supranuclear palsy, progressive, 1	.	140
HP:0003581	HP:0003581	Adult onset	0	MARCHF6 CL E G H	10299	30550	OMIM:613608	Epilepsy, familial adult myoclonic, 3	.
HP:0003581	HP:0003581	Adult onset	0	MARS1 CL E G H	4141	6898	OMIM:616280	Charcot-Marie-Tooth disease, axonal, type 2U
HP:0003581	HP:0003581	Adult onset	0	MARS2 CL E G H	92935	25133	OMIM:611390	Spastic ataxia 3, autosomal recessive		25
HP:0003581	HP:0003581	Adult onset	0	MATR3 CL E G H	9782	6912	OMIM:606070	Amyotrophic lateral sclerosis 21	.	80
HP:0003581	HP:0003581	Adult onset	0	MBD4 CL E G H	8930	6919	OMIM:619975			1
HP:0003581	HP:0003581	Adult onset	0	MBD4 CL E G H	8930	6919	OMIM:606660	MELANOMA, UVEAL, SUSCEPTIBILITY TO, 1		1
HP:0003581	HP:0003581	Adult onset	0	MCCC1 CL E G H	56922	6936	OMIM:210200	3-Methylcrotonyl-CoA carboxylase 1 deficiency		81
HP:0003581	HP:0003581	Adult onset	0	MCM6 CL E G H	4175	6949	OMIM:223100	LACTOSE INTOLERANCE, ADULT TYPE		5
HP:0003581	HP:0003581	Adult onset	0	MED25 CL E G H	81857	28845	OMIM:605589	Charcot-Marie-Tooth disease, axonal, type 2B2	.	43
HP:0003581	HP:0003581	Adult onset	0	MEFV CL E G H	4210	6998	OMIM:249100	Familial Mediterranean fever, AR		281
HP:0003581	HP:0003581	Adult onset	0	MEI1 CL E G H	150365	28613	OMIM:618431	Hydatidiform mole, recurrent, 3
HP:0003581	HP:0003581	Adult onset	0	MEIOB CL E G H	254528	28569	OMIM:617706	Spermatogenic failure 22
HP:0003581	HP:0003581	Adult onset	0	MEN1 CL E G H	4221	7010	OMIM:131100	Multiple endocrine neoplasia 1		462
HP:0003581	HP:0003581	Adult onset	0	MFAP5 CL E G H	8076	29673	OMIM:616166	AORTIC ANEURYSM, FAMILIAL THORACIC 9; AAT9		11
HP:0003581	HP:0003581	Adult onset	0	MGME1 CL E G H	92667	16205	OMIM:615084	Mitochondrial DNA depletion syndrome 11		11
HP:0003581	HP:0003581	Adult onset	0	MICAL1 CL E G H	64780	20619	OMIM:600512	EPILEPSY, FAMILIAL TEMPORAL LOBE, 1; ETL1
HP:0003581	HP:0003581	Adult onset	0	MLH1 CL E G H	4292	7127	OMIM:158320	Muir-Torre syndrome		1819
HP:0003581	HP:0003581	Adult onset	0	MME CL E G H	4311	7154	OMIM:617017	Charcot-Marie-Tooth disease, axonal, type 2T	.	18
HP:0003581	HP:0003581	Adult onset	0	MME CL E G H	4311	7154	OMIM:617018	SPINOCEREBELLAR ATAXIA 43; SCA43		18
HP:0003581	HP:0003581	Adult onset	0	MN1 CL E G H	4330	7180	OMIM:607174	Meningioma, familial, susceptibility to	.	1
HP:0003581	HP:0003581	Adult onset	0	MOCOS CL E G H	55034	18234	OMIM:603592	Xanthinuria, type II		4
HP:0003581	HP:0003581	Adult onset	0	MORC2 CL E G H	22880	23573	OMIM:616688	Charcot-Marie-Tooth disease, axonal, type 2Z		8
HP:0003581	HP:0003581	Adult onset	0	MOV10L1 CL E G H	54456	7201	OMIM:619878
HP:0003581	HP:0003581	Adult onset	0	MPEG1 CL E G H	219972	29619	OMIM:619223	IMMUNODEFICIENCY 77; IMD77
HP:0003581	HP:0003581	Adult onset	0	MPO CL E G H	4353	7218	OMIM:104300	Alzheimer disease		11
HP:0003581	HP:0003581	Adult onset	0	MPZ CL E G H	4359	7225	OMIM:607736	Charcot-Marie-Tooth disease, type 2J		134
HP:0003581	HP:0003581	Adult onset	0	MSH2 CL E G H	4436	7325	OMIM:158320	Muir-Torre syndrome		2162
HP:0003581	HP:0003581	Adult onset	0	MSH3 CL E G H	4437	7326	OMIM:617100	Familial adenomatous polyposis 4		5
HP:0003581	HP:0003581	Adult onset	0	MSH4 CL E G H	4438	7327	OMIM:619938
HP:0003581	HP:0003581	Adult onset	0	MSH4 CL E G H	4438	7327	OMIM:108420	Spermatogenic failure 2
HP:0003581	HP:0003581	Adult onset	0	MSH5 CL E G H	4439	7328	OMIM:619937			5
HP:0003581	HP:0003581	Adult onset	0	MSH6 CL E G H	2956	7329	OMIM:614350	Colorectal cancer, hereditary nonpolyposis, type 5		2232
HP:0003581	HP:0003581	Adult onset	0	MTNR1B CL E G H	4544	7464	OMIM:125853	Diabetes mellitus, noninsulin-dependent		4
HP:0003581	HP:0003581	Adult onset	0	MTOR CL E G H	2475	3942	OMIM:607341	Focal cortical dysplasia of taylor	.	68
HP:0003581	HP:0003581	Adult onset	0	MUC1 CL E G H	4582	7508	OMIM:174000	Tubulointerstitial kidney disease, autosomal dominant, 2	.	1
HP:0003581	HP:0003581	Adult onset	0	MYBPC3 CL E G H	4607	7551	OMIM:115197	Cardiomyopathy, familial hypertrophic, 4		1143
HP:0003581	HP:0003581	Adult onset	0	MYBPC3 CL E G H	4607	7551	OMIM:615396	Left ventricular noncompaction 10		1143
HP:0003581	HP:0003581	Adult onset	0	MYH6 CL E G H	4624	7576	OMIM:613252	Cardiomyopathy, dilated, 1ee		452
HP:0003581	HP:0003581	Adult onset	0	MYH6 CL E G H	4624	7576	OMIM:613251	Cardiomyopathy, familial hypertrophic, 14		452
HP:0003581	HP:0003581	Adult onset	0	MYH7 CL E G H	4625	7577	OMIM:613426	Cardiomyopathy, dilated, 1S		1269
HP:0003581	HP:0003581	Adult onset	0	MYH7 CL E G H	4625	7577	OMIM:255160	Myopathy, myosin storage, autosomal recessive		1269
HP:0003581	HP:0003581	Adult onset	0	MYL2 CL E G H	4633	7583	OMIM:608758	Cardiomyopathy, familial hypertrophic, 10		131
HP:0003581	HP:0003581	Adult onset	0	MYL4 CL E G H	4635	7585	OMIM:617280	Atrial fibrillation, familial, 18		2
HP:0003581	HP:0003581	Adult onset	0	MYORG CL E G H	57462	19918	OMIM:618317	Basal ganglia calcification, idiopathic, 7, autosomal recessive	.
HP:0003581	HP:0003581	Adult onset	0	MYOT CL E G H	9499	12399	OMIM:182920	Myopathy, spheroid body		75
HP:0003581	HP:0003581	Adult onset	0	MYOT CL E G H	9499	12399	OMIM:609200	MYOTILINOPATHY	.	75
HP:0003581	HP:0003581	Adult onset	0	MYPN CL E G H	84665	23246	OMIM:615248	Cardiomyopathy, dilated, 1kk		217
HP:0003581	HP:0003581	Adult onset	0	MYPN CL E G H	84665	23246	OMIM:617336	Nemaline myopathy 11, autosomal recessive		217
HP:0003581	HP:0003581	Adult onset	0	NAGA CL E G H	4668	7631	OMIM:609242	Kanzaki disease	.	47
HP:0003581	HP:0003581	Adult onset	0	NEFH CL E G H	4744	7737	OMIM:105400	Amyotrophic lateral sclerosis 1		24
HP:0003581	HP:0003581	Adult onset	0	NEK1 CL E G H	4750	7744	OMIM:617892	Amyotrophic lateral sclerosis, susceptibility to, 24		101
HP:0003581	HP:0003581	Adult onset	0	NEUROD1 CL E G H	4760	7762	OMIM:125853	Diabetes mellitus, noninsulin-dependent		32
HP:0003581	HP:0003581	Adult onset	0	NEXN CL E G H	91624	29557	OMIM:613122	Cardiomyopathy, dilated, 1cc		167
HP:0003581	HP:0003581	Adult onset	0	NEXN CL E G H	91624	29557	OMIM:613876	Cardiomyopathy, familial hypertrophic, 20		167
HP:0003581	HP:0003581	Adult onset	0	NF1 CL E G H	4763	7765	OMIM:162210	Neurofibromatosis, familial spinal		1952
HP:0003581	HP:0003581	Adult onset	0	NF2 CL E G H	4771	7773	OMIM:607174	Meningioma, familial, susceptibility to	.	220
HP:0003581	HP:0003581	Adult onset	0	NF2 CL E G H	4771	7773	OMIM:101000	Neurofibromatosis, type II		220
HP:0003581	HP:0003581	Adult onset	0	NF2 CL E G H	4771	7773	OMIM:162091	SCHWANNOMATOSIS		220
HP:0003581	HP:0003581	Adult onset	0	NFKB1 CL E G H	4790	7794	OMIM:616576	IMMUNODEFICIENCY, COMMON VARIABLE, 12; CVID12		7
HP:0003581	HP:0003581	Adult onset	0	NLRP3 CL E G H	114548	16400	OMIM:617772	Deafness, autosomal dominant 34, with or without inflammation		217
HP:0003581	HP:0003581	Adult onset	0	NLRP3 CL E G H	114548	16400	OMIM:148200	Keratoendotheliitis fugax hereditaria		217
HP:0003581	HP:0003581	Adult onset	0	NLRP7 CL E G H	199713	22947	OMIM:231090	Hydatidiform mole, recurrent, 1		171
HP:0003581	HP:0003581	Adult onset	0	NOL3 CL E G H	8996	7869	OMIM:614937	Myoclonus, familial cortical	.	1
HP:0003581	HP:0003581	Adult onset	0	NOS3 CL E G H	4846	7876	OMIM:104300	Alzheimer disease		8
HP:0003581	HP:0003581	Adult onset	0	NOS3 CL E G H	4846	7876	OMIM:601367	STROKE, ISCHEMIC		8
HP:0003581	HP:0003581	Adult onset	0	NOTCH2NLC CL E G H	100996717	53924	OMIM:619473	OCULOPHARYNGODISTAL MYOPATHY 3; OPDM3
HP:0003581	HP:0003581	Adult onset	0	NOTCH3 CL E G H	4854	7883	OMIM:125310	Cerebral arteriopathy, autosomal dominant, with subcortical infarctsand leukoencephalopathy	.	144
HP:0003581	HP:0003581	Adult onset	0	NPC1 CL E G H	4864	7897	OMIM:257220	Niemann-pick disease, type C1		258
HP:0003581	HP:0003581	Adult onset	0	NPHP1 CL E G H	4867	7905	OMIM:266900	Senior-Loken syndrome 1		85
HP:0003581	HP:0003581	Adult onset	0	NPPA CL E G H	4878	7939	OMIM:612201	Atrial fibrillation, familial, 6		13
HP:0003581	HP:0003581	Adult onset	0	NR0B1 CL E G H	190	7960	OMIM:300200	Adrenal hypoplasia, congenital		48
HP:0003581	HP:0003581	Adult onset	0	NR4A2 CL E G H	4929	7981	OMIM:168600	Parkinson disease, late-onset		27
HP:0003581	HP:0003581	Adult onset	0	NRCAM CL E G H	4897	7994	OMIM:619833			2
HP:0003581	HP:0003581	Adult onset	0	NTHL1 CL E G H	4913	8028	OMIM:616415	Familial adenomatous polyposis 3		2
HP:0003581	HP:0003581	Adult onset	0	NUTM2B-AS1 CL E G H	101060691	51204	OMIM:618637	OCULOPHARYNGEAL MYOPATHY WITH LEUKOENCEPHALOPATHY 1; OPML1
HP:0003581	HP:0003581	Adult onset	0	OPTN CL E G H	10133	17142	OMIM:613435	Amyotrophic lateral sclerosis 12		62
HP:0003581	HP:0003581	Adult onset	0	OSMR CL E G H	9180	8507	OMIM:105250	Amyloidosis, primary localized cutaneous, 1	.	5
HP:0003581	HP:0003581	Adult onset	0	OTC CL E G H	5009	8512	OMIM:311250	Ornithine transcarbamylase deficiency, hyperammonemia due to		369
HP:0003581	HP:0003581	Adult onset	0	PABPN1 CL E G H	8106	8565	OMIM:164300	Oculopharyngeal muscular dystrophy	.	10
HP:0003581	HP:0003581	Adult onset	0	PARK7 CL E G H	11315	16369	OMIM:606324	PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET; PARK7		23
HP:0003581	HP:0003581	Adult onset	0	PARN CL E G H	5073	8609	OMIM:616371	PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 4; PFBMFT4		26
HP:0003581	HP:0003581	Adult onset	0	PATL2 CL E G H	197135	33630	OMIM:617743	Oocyte maturation defect 4
HP:0003581	HP:0003581	Adult onset	0	PAX2 CL E G H	5076	8616	OMIM:616002	Focal segmental glomerulosclerosis 7		39
HP:0003581	HP:0003581	Adult onset	0	PAX4 CL E G H	5078	8618	OMIM:125853	Diabetes mellitus, noninsulin-dependent		55
HP:0003581	HP:0003581	Adult onset	0	PDCD1 CL E G H	5133	8760	OMIM:126200	Multiple sclerosis, susceptibility to		1
HP:0003581	HP:0003581	Adult onset	0	PDE11A CL E G H	50940	8773	OMIM:610475	Pigmented nodular adrenocortical disease, primary, 2		13
HP:0003581	HP:0003581	Adult onset	0	PDGFB CL E G H	5155	8800	OMIM:213600	Basal ganglia calcification, idiopathic, 1	.	9
HP:0003581	HP:0003581	Adult onset	0	PDGFB CL E G H	5155	8800	OMIM:607174	Meningioma, familial, susceptibility to	.	9
HP:0003581	HP:0003581	Adult onset	0	PDGFRB CL E G H	5159	8804	OMIM:213600	Basal ganglia calcification, idiopathic, 1	.	28
HP:0003581	HP:0003581	Adult onset	0	PDGFRB CL E G H	5159	8804	OMIM:615007	Basal ganglia calcification, idiopathic, 4		28
HP:0003581	HP:0003581	Adult onset	0	PDHA2 CL E G H	5161	8807	OMIM:619828	SPERMATOGENIC FAILURE 70; SPGF70
HP:0003581	HP:0003581	Adult onset	0	PDX1 CL E G H	3651	6107	OMIM:125853	Diabetes mellitus, noninsulin-dependent		30
HP:0003581	HP:0003581	Adult onset	0	PHKA1 CL E G H	5255	8925	OMIM:300559	Muscle glycogenosis, X-linked		54
HP:0003581	HP:0003581	Adult onset	0	PIGA CL E G H	5277	8957	OMIM:300818	Paroxysmal nocturnal hemoglobinuria		46
HP:0003581	HP:0003581	Adult onset	0	PIK3CA CL E G H	5290	8975	OMIM:615108	Cowden syndrome 5	.	162
HP:0003581	HP:0003581	Adult onset	0	PIK3R5 CL E G H	23533	30035	OMIM:615217	Ataxia-Oculomotor apraxia 3		11
HP:0003581	HP:0003581	Adult onset	0	PKD2 CL E G H	5311	9009	OMIM:613095	Polycystic kidney disease 2		106
HP:0003581	HP:0003581	Adult onset	0	PKHD1 CL E G H	5314	9016	OMIM:263200	Polycystic kidney disease 4 with or without polycystic liver disease		563
HP:0003581	HP:0003581	Adult onset	0	PKP2 CL E G H	5318	9024	OMIM:609040	Arrhythmogenic right ventricular dysplasia, familial, 9		406
HP:0003581	HP:0003581	Adult onset	0	PLA2G6 CL E G H	8398	9039	OMIM:612953	Parkinson disease 14, autosomal recessive		133
HP:0003581	HP:0003581	Adult onset	0	PLAU CL E G H	5328	9052	OMIM:104300	Alzheimer disease		50
HP:0003581	HP:0003581	Adult onset	0	PLD3 CL E G H	23646	17158	OMIM:617770	Spinocerebellar ataxia 46	.	2
HP:0003581	HP:0003581	Adult onset	0	PLEKHG5 CL E G H	57449	29105	OMIM:615376	Charcot-Marie-Tooth disease, recessive intermediate C		186
HP:0003581	HP:0003581	Adult onset	0	PLG CL E G H	5340	9071	OMIM:619360	ANGIOEDEMA, HEREDITARY, 4; HAE4		11
HP:0003581	HP:0003581	Adult onset	0	PLIN1 CL E G H	5346	9076	OMIM:613877	Lipodystrophy, familial partial, type 4		19
HP:0003581	HP:0003581	Adult onset	0	PLN CL E G H	5350	9080	OMIM:609909	Cardiomyopathy, dilated, 1P		57
HP:0003581	HP:0003581	Adult onset	0	PLN CL E G H	5350	9080	OMIM:613874	Cardiomyopathy, familial hypertrophic, 18		57
HP:0003581	HP:0003581	Adult onset	0	PMP2 CL E G H	5375	9117	OMIM:618279	Charcot-Marie-Tooth disease, demyelinating, type 1G		1
HP:0003581	HP:0003581	Adult onset	0	PMP22 CL E G H	5376	9118	OMIM:162500	Neuropathy, hereditary, with liability to pressure palsies		79
HP:0003581	HP:0003581	Adult onset	0	PMVK CL E G H	10654	9141	OMIM:175800	Porokeratosis 1, multiple types		3
HP:0003581	HP:0003581	Adult onset	0	PNKP CL E G H	11284	9154	OMIM:605589	Charcot-Marie-Tooth disease, axonal, type 2B2	.	244
HP:0003581	HP:0003581	Adult onset	0	PNLDC1 CL E G H	154197	21185	OMIM:619528	SPERMATOGENIC FAILURE 57; SPGF57
HP:0003581	HP:0003581	Adult onset	0	PNPLA2 CL E G H	57104	30802	OMIM:610717	Neutral lipid storage disease with myopathy	.	65
HP:0003581	HP:0003581	Adult onset	0	POF1B CL E G H	79983	13711	OMIM:300604	Premature ovarian failure 2B		31
HP:0003581	HP:0003581	Adult onset	0	POLE CL E G H	5426	9177	OMIM:615083	Colorectal cancer, susceptibility to, 12	.	1129
HP:0003581	HP:0003581	Adult onset	0	POLG CL E G H	5428	9179	OMIM:157640	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1	.	464
HP:0003581	HP:0003581	Adult onset	0	POLG CL E G H	5428	9179	OMIM:258450	Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal recessive	HP:0040282 - Frequent	464
HP:0003581	HP:0003581	Adult onset	0	POLG CL E G H	5428	9179	OMIM:607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis	.	464
HP:0003581	HP:0003581	Adult onset	0	POLG2 CL E G H	11232	9180	OMIM:610131	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4	.	45
HP:0003581	HP:0003581	Adult onset	0	POLRMT CL E G H	5442	9200	OMIM:619743	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 55; COXPD55		1
HP:0003581	HP:0003581	Adult onset	0	POT1 CL E G H	25913	17284	OMIM:616568	Glioma susceptibility 9	.	23
HP:0003581	HP:0003581	Adult onset	0	POT1 CL E G H	25913	17284	OMIM:615848	Melanoma, cutaneous malignant, susceptibility to, 10	.	23
HP:0003581	HP:0003581	Adult onset	0	PPARG CL E G H	5468	9236	OMIM:125853	Diabetes mellitus, noninsulin-dependent		42
HP:0003581	HP:0003581	Adult onset	0	PPARG CL E G H	5468	9236	OMIM:604367	Lipodystrophy, familial partial, type 3		42
HP:0003581	HP:0003581	Adult onset	0	PPOX CL E G H	5498	9280	OMIM:176200	Porphyria variegata		41
HP:0003581	HP:0003581	Adult onset	0	PPP1R3A CL E G H	5506	9291	OMIM:125853	Diabetes mellitus, noninsulin-dependent		12
HP:0003581	HP:0003581	Adult onset	0	PPP2R3C CL E G H	55012	17485	OMIM:618420	Spermatogenic failure 36
HP:0003581	HP:0003581	Adult onset	0	PRDM16 CL E G H	63976	14000	OMIM:615373	Left ventricular noncompaction 8		148
HP:0003581	HP:0003581	Adult onset	0	PRDX3 CL E G H	10935	9354	OMIM:619862
HP:0003581	HP:0003581	Adult onset	0	PRKAG2 CL E G H	51422	9386	OMIM:194200	WOLFF-PARKINSON-WHITE SYNDROME		235
HP:0003581	HP:0003581	Adult onset	0	PRKAR1A CL E G H	5573	9388	OMIM:610489	Pigmented nodular adrenocortical disease, primary, 1		134
HP:0003581	HP:0003581	Adult onset	0	PRKCH CL E G H	5583	9403	OMIM:601367	STROKE, ISCHEMIC		1
HP:0003581	HP:0003581	Adult onset	0	PRKCSH CL E G H	5589	9411	OMIM:174050	Polycystic liver disease 1 with or without kidney cysts	.	63
HP:0003581	HP:0003581	Adult onset	0	PRKG1 CL E G H	5592	9414	OMIM:615436	AORTIC ANEURYSM, FAMILIAL THORACIC 8; AAT8		41
HP:0003581	HP:0003581	Adult onset	0	PRKN CL E G H	5071	8607	OMIM:600116	Parkinson disease, juvenile, type 2		138
HP:0003581	HP:0003581	Adult onset	0	PRKRA CL E G H	8575	9438	OMIM:612067	Dystonia 16		37
HP:0003581	HP:0003581	Adult onset	0	PRNP CL E G H	5621	9449	OMIM:123400	Creutzfeldt-Jakob disease		69
HP:0003581	HP:0003581	Adult onset	0	PRNP CL E G H	5621	9449	OMIM:600072	Fatal familial insomnia	.	69
HP:0003581	HP:0003581	Adult onset	0	PRNP CL E G H	5621	9449	OMIM:137440	Gerstmann-Straussler disease	.	69
HP:0003581	HP:0003581	Adult onset	0	PRNP CL E G H	5621	9449	OMIM:603218	Huntington disease-like 1		69
HP:0003581	HP:0003581	Adult onset	0	PRPF8 CL E G H	10594	17340	OMIM:600059	Retinitis pigmentosa 13		94
HP:0003581	HP:0003581	Adult onset	0	PRPH CL E G H	5630	9461	OMIM:105400	Amyotrophic lateral sclerosis 1		25
HP:0003581	HP:0003581	Adult onset	0	PRPH2 CL E G H	5961	9942	OMIM:608161	Macular dystrophy, vitelliform, 3		159
HP:0003581	HP:0003581	Adult onset	0	PRY CL E G H	9081	14024	OMIM:415000	SPERMATOGENIC FAILURE, NONOBSTRUCTIVE, Y-LINKED
HP:0003581	HP:0003581	Adult onset	0	PRY2 CL E G H	442862	21504	OMIM:415000	SPERMATOGENIC FAILURE, NONOBSTRUCTIVE, Y-LINKED		5
HP:0003581	HP:0003581	Adult onset	0	PSAP CL E G H	5660	9498	OMIM:619491	PARKINSON DISEASE 24, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO; PARK24		81
HP:0003581	HP:0003581	Adult onset	0	PSEN1 CL E G H	5663	9508	OMIM:607822	Alzheimer disease 3	.	241
HP:0003581	HP:0003581	Adult onset	0	PSEN1 CL E G H	5663	9508	OMIM:613694	Cardiomyopathy, dilated, 1U		241
HP:0003581	HP:0003581	Adult onset	0	PSEN1 CL E G H	5663	9508	OMIM:600274	Frontotemporal dementia		241
HP:0003581	HP:0003581	Adult onset	0	PSEN2 CL E G H	5664	9509	OMIM:606889	Alzheimer disease 4		59
HP:0003581	HP:0003581	Adult onset	0	PSEN2 CL E G H	5664	9509	OMIM:613697	Cardiomyopathy, dilated, 1V		59
HP:0003581	HP:0003581	Adult onset	0	PTEN CL E G H	5728	9588	OMIM:158350	Cowden syndrome 1	.	948
HP:0003581	HP:0003581	Adult onset	0	PTEN CL E G H	5728	9588	OMIM:607174	Meningioma, familial, susceptibility to	.	948
HP:0003581	HP:0003581	Adult onset	0	PTPN1 CL E G H	5770	9642	OMIM:125853	Diabetes mellitus, noninsulin-dependent		1
HP:0003581	HP:0003581	Adult onset	0	PYGM CL E G H	5837	9726	OMIM:232600	Glycogen storage disease V		166
HP:0003581	HP:0003581	Adult onset	0	RAB39B CL E G H	116442	16499	OMIM:311510	Waisman syndrome		34
HP:0003581	HP:0003581	Adult onset	0	RAF1 CL E G H	5894	9829	OMIM:615916	Cardiomyopathy, dilated, 1nn		212
HP:0003581	HP:0003581	Adult onset	0	RAPGEF2 CL E G H	9693	16854	OMIM:618075	EPILEPSY, FAMILIAL ADULT MYOCLONIC, 7; FAME7
HP:0003581	HP:0003581	Adult onset	0	RAX2 CL E G H	84839	18286	OMIM:620102			52
HP:0003581	HP:0003581	Adult onset	0	RBM20 CL E G H	282996	27424	OMIM:613172	Cardiomyopathy, dilated, 1dd		363
HP:0003581	HP:0003581	Adult onset	0	RBMY1A1 CL E G H	5940	9912	OMIM:415000	SPERMATOGENIC FAILURE, NONOBSTRUCTIVE, Y-LINKED
HP:0003581	HP:0003581	Adult onset	0	RBP3 CL E G H	5949	9921	OMIM:615233	Retinitis pigmentosa 66		108
HP:0003581	HP:0003581	Adult onset	0	RCBTB1 CL E G H	55213	18243	OMIM:617175	RETINAL DYSTROPHY WITH OR WITHOUT EXTRAOCULAR ANOMALIES; RDEOA		8
HP:0003581	HP:0003581	Adult onset	0	REC114 CL E G H	283677	25065	OMIM:619176	OOCYTE MATURATION DEFECT 10; OOMD10
HP:0003581	HP:0003581	Adult onset	0	REEP1 CL E G H	65055	25786	OMIM:610250	Spastic paraplegia 31, autosomal dominant		87
HP:0003581	HP:0003581	Adult onset	0	RELN CL E G H	5649	9957	OMIM:600512	EPILEPSY, FAMILIAL TEMPORAL LOBE, 1; ETL1		334
HP:0003581	HP:0003581	Adult onset	0	RETN CL E G H	56729	20389	OMIM:125853	Diabetes mellitus, noninsulin-dependent		1
HP:0003581	HP:0003581	Adult onset	0	RFC1 CL E G H	5981	9969	OMIM:614575	Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome	.
HP:0003581	HP:0003581	Adult onset	0	RILPL1 CL E G H	353116	26814	OMIM:619790	OCULOPHARYNGODISTAL MYOPATHY 4; OPDM4
HP:0003581	HP:0003581	Adult onset	0	RIPOR2 CL E G H	9750	13872	OMIM:607017	Deafness, autosomal dominant 21		1
HP:0003581	HP:0003581	Adult onset	0	RNF170 CL E G H	81790	25358	OMIM:608984	Ataxia, sensory, autosomal dominant	.	3
HP:0003581	HP:0003581	Adult onset	0	RP1 CL E G H	6101	10263	OMIM:180100	Retinitis pigmentosa 1		111
HP:0003581	HP:0003581	Adult onset	0	RP2 CL E G H	6102	10274	OMIM:312600	Retinitis pigmentosa 2, X-linked		45
HP:0003581	HP:0003581	Adult onset	0	RPA1 CL E G H	6117	10289	OMIM:619767	PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 6; PFBMFT6
HP:0003581	HP:0003581	Adult onset	0	RPGR CL E G H	6103	10295	OMIM:304020	Cone-rod dystrophy, X-linked, 1		200
HP:0003581	HP:0003581	Adult onset	0	RPGR CL E G H	6103	10295	OMIM:300029	Retinitis pigmentosa 3		200
HP:0003581	HP:0003581	Adult onset	0	RPL10L CL E G H	140801	17976	OMIM:619689	SPERMATOGENIC FAILURE 63; SPGF63		2
HP:0003581	HP:0003581	Adult onset	0	RPS14 CL E G H	6208	10387	OMIM:153550	Chromosome 5q deletion syndrome
HP:0003581	HP:0003581	Adult onset	0	RPS4Y2 CL E G H	140032	18501	OMIM:415000	SPERMATOGENIC FAILURE, NONOBSTRUCTIVE, Y-LINKED
HP:0003581	HP:0003581	Adult onset	0	RRM2B CL E G H	50484	17296	OMIM:613077	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5		125
HP:0003581	HP:0003581	Adult onset	0	RTEL1 CL E G H	51750	15888	OMIM:616373	PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 3; PFBMFT3		77
HP:0003581	HP:0003581	Adult onset	0	RYR2 CL E G H	6262	10484	OMIM:600996	Arrhythmogenic right ventricular dysplasia, familial, 2		1103
HP:0003581	HP:0003581	Adult onset	0	RYR2 CL E G H	6262	10484	OMIM:604772	VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY; CPVT1		1103
HP:0003581	HP:0003581	Adult onset	0	SAMD12 CL E G H	401474	31750	OMIM:601068	Epilepsy, familial adult myoclonic, 1		2
HP:0003581	HP:0003581	Adult onset	0	SAMD9L CL E G H	219285	1349	OMIM:619806	SPINOCEREBELLAR ATAXIA 49; SCA49		4
HP:0003581	HP:0003581	Adult onset	0	SASH3 CL E G H	54440	15975	OMIM:301082			1
HP:0003581	HP:0003581	Adult onset	0	SCN10A CL E G H	6336	10582	OMIM:615551	EPISODIC PAIN SYNDROME, FAMILIAL, 2; FEPS2		146
HP:0003581	HP:0003581	Adult onset	0	SCN1A CL E G H	6323	10585	OMIM:609634	Migraine, familial hemiplegic, 3		1053
HP:0003581	HP:0003581	Adult onset	0	SCN1B CL E G H	6324	10586	OMIM:615377	Atrial fibrillation, familial, 13		126
HP:0003581	HP:0003581	Adult onset	0	SCN2B CL E G H	6327	10589	OMIM:615378	Atrial fibrillation, familial, 14		21
HP:0003581	HP:0003581	Adult onset	0	SCN3B CL E G H	55800	20665	OMIM:613120	Brugada syndrome 7		122
HP:0003581	HP:0003581	Adult onset	0	SCN4A CL E G H	6329	10591	OMIM:608390	Myotonia, potassium-aggravated		263
HP:0003581	HP:0003581	Adult onset	0	SCN4B CL E G H	6330	10592	OMIM:611819	Long QT syndrome 10		110
HP:0003581	HP:0003581	Adult onset	0	SCN5A CL E G H	6331	10593	OMIM:614022	Atrial fibrillation, familial, 10		1134
HP:0003581	HP:0003581	Adult onset	0	SCN5A CL E G H	6331	10593	OMIM:601154	Cardiomyopathy, dilated, 1E		1134
HP:0003581	HP:0003581	Adult onset	0	SCN5A CL E G H	6331	10593	OMIM:603830	Long QT syndrome 3		1134
HP:0003581	HP:0003581	Adult onset	0	SCNN1G CL E G H	6340	10602	OMIM:618114	Liddle syndrome 2		57
HP:0003581	HP:0003581	Adult onset	0	SDHA CL E G H	6389	10680	OMIM:619259	NEURODEGENERATION WITH ATAXIA AND LATE-ONSET OPTIC ATROPHY; NDAXOA		304
HP:0003581	HP:0003581	Adult onset	0	SDHAF2 CL E G H	54949	26034	OMIM:601650	Paragangliomas 2	.	55
HP:0003581	HP:0003581	Adult onset	0	SDHB CL E G H	6390	10681	OMIM:115310	Paragangliomas 4	.	237
HP:0003581	HP:0003581	Adult onset	0	SDHC CL E G H	6391	10682	OMIM:605373	Paragangliomas 3	.	147
HP:0003581	HP:0003581	Adult onset	0	SDHD CL E G H	6392	10683	OMIM:168000	Paragangliomas 1	.	129
HP:0003581	HP:0003581	Adult onset	0	SEC23B CL E G H	10483	10702	OMIM:224100	Anemia, dyserythropoietic congenital, type II		60
HP:0003581	HP:0003581	Adult onset	0	SEC63 CL E G H	11231	21082	OMIM:617004	Polycystic liver disease 2	.	137
HP:0003581	HP:0003581	Adult onset	0	SELENBP1 CL E G H	8991	10719	OMIM:618148	Extraoral halitosis due to MTO deficiency
HP:0003581	HP:0003581	Adult onset	0	SEMA3A CL E G H	10371	10723	OMIM:614897	Hypogonadotropic hypogonadism 16 with or without anosmia		14
HP:0003581	HP:0003581	Adult onset	0	SERPINA1 CL E G H	5265	8941	OMIM:613490	Alpha-1-Antitrypsin deficiency		131
HP:0003581	HP:0003581	Adult onset	0	SERPINA6 CL E G H	866	1540	OMIM:611489	Corticosteroid-binding globulin deficiency		4
HP:0003581	HP:0003581	Adult onset	0	SERPING1 CL E G H	710	1228	OMIM:106100	Angioedema, hereditary, 1		64
HP:0003581	HP:0003581	Adult onset	0	SERPINH1 CL E G H	871	1546	OMIM:610504	Preterm premature rupture of the membranes		52
HP:0003581	HP:0003581	Adult onset	0	SETX CL E G H	23064	445	OMIM:602433	Amyotrophic lateral sclerosis 4, juvenile		162
HP:0003581	HP:0003581	Adult onset	0	SFRP4 CL E G H	6424	10778	OMIM:265900	Pyle disease		3
HP:0003581	HP:0003581	Adult onset	0	SFTPA1 CL E G H	653509	10798	OMIM:619611	INTERSTITIAL LUNG DISEASE 1; ILD1		19
HP:0003581	HP:0003581	Adult onset	0	SGCD CL E G H	6444	10807	OMIM:606685	CARDIOMYOPATHY, DILATED, 1L; CMD1L		223
HP:0003581	HP:0003581	Adult onset	0	SH3BP2 CL E G H	6452	10825	OMIM:118400	Cherubism		177
HP:0003581	HP:0003581	Adult onset	0	SH3TC2 CL E G H	79628	29427	OMIM:613353	Mononeuropathy of the median nerve, mild		493
HP:0003581	HP:0003581	Adult onset	0	SHANK3 CL E G H	85358	14294	OMIM:613950	Schizophrenia 15		53
HP:0003581	HP:0003581	Adult onset	0	SHOC1 CL E G H	158401	26535	OMIM:619949
HP:0003581	HP:0003581	Adult onset	0	SLC17A9 CL E G H	63910	16192	OMIM:616063	Porokeratosis 8, disseminated superficial Actinic type		3
HP:0003581	HP:0003581	Adult onset	0	SLC19A2 CL E G H	10560	10938	OMIM:249270	Thiamine-Responsive megaloblastic anemia syndrome		55
HP:0003581	HP:0003581	Adult onset	0	SLC19A3 CL E G H	80704	16266	OMIM:607483	Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2)		110
HP:0003581	HP:0003581	Adult onset	0	SLC20A2 CL E G H	6575	10947	OMIM:213600	Basal ganglia calcification, idiopathic, 1	.	70
HP:0003581	HP:0003581	Adult onset	0	SLC22A12 CL E G H	116085	17989	OMIM:220150	Hypouricemia, renal, 1		56
HP:0003581	HP:0003581	Adult onset	0	SLC25A13 CL E G H	10165	10983	OMIM:603471	Citrullinemia, type II, adult-onset		82
HP:0003581	HP:0003581	Adult onset	0	SLC25A4 CL E G H	291	10990	OMIM:609283	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2	.	68
HP:0003581	HP:0003581	Adult onset	0	SLC26A8 CL E G H	116369	14468	OMIM:606766	Spermatogenic failure 3		3
HP:0003581	HP:0003581	Adult onset	0	SLC2A2 CL E G H	6514	11006	OMIM:125853	Diabetes mellitus, noninsulin-dependent		71
HP:0003581	HP:0003581	Adult onset	0	SLC30A8 CL E G H	169026	20303	OMIM:125853	Diabetes mellitus, noninsulin-dependent		3
HP:0003581	HP:0003581	Adult onset	0	SLC34A2 CL E G H	10568	11020	OMIM:265100	Pulmonary alveolar microlithiasis		7
HP:0003581	HP:0003581	Adult onset	0	SLC37A4 CL E G H	2542	4061	OMIM:619525	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw; CDG2W		110
HP:0003581	HP:0003581	Adult onset	0	SLC39A14 CL E G H	23516	20858	OMIM:144755	Hyperostosis cranialis interna		5
HP:0003581	HP:0003581	Adult onset	0	SLC44A4 CL E G H	80736	13941	OMIM:617606	Deafness, autosomal dominant 72		1
HP:0003581	HP:0003581	Adult onset	0	SLC4A11 CL E G H	83959	16438	OMIM:217400	Corneal endothelial dystrophy and perceptive deafness		66
HP:0003581	HP:0003581	Adult onset	0	SLC4A4 CL E G H	8671	11030	OMIM:604278	Renal tubular acidosis, proximal, with ocular abnormalities and mentalretardation		89
HP:0003581	HP:0003581	Adult onset	0	SLC7A6OS CL E G H	84138	25807	OMIM:619191	EPILEPSY, PROGRESSIVE MYOCLONIC, 12; EPM12
HP:0003581	HP:0003581	Adult onset	0	SLCO2A1 CL E G H	6578	10955	OMIM:167100	Hypertrophic osteoarthropathy, primary, autosomal dominant		13
HP:0003581	HP:0003581	Adult onset	0	SLCO2A1 CL E G H	6578	10955	OMIM:614441	Hypertrophic osteoarthropathy, primary, autosomal recessive 2		13
HP:0003581	HP:0003581	Adult onset	0	SMAD2 CL E G H	4087	6768	OMIM:619656	LOEYS-DIETZ SYNDROME 6; LDS6		7
HP:0003581	HP:0003581	Adult onset	0	SMAD4 CL E G H	4089	6770	OMIM:260350	Pancreatic cancer		504
HP:0003581	HP:0003581	Adult onset	0	SMARCB1 CL E G H	6598	11103	OMIM:162091	SCHWANNOMATOSIS		87
HP:0003581	HP:0003581	Adult onset	0	SMARCE1 CL E G H	6605	11109	OMIM:607174	Meningioma, familial, susceptibility to	.	47
HP:0003581	HP:0003581	Adult onset	0	SMCHD1 CL E G H	23347	29090	OMIM:158901	FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 2; FSHD2		174
HP:0003581	HP:0003581	Adult onset	0	SMN1 CL E G H	6606	11117	OMIM:253400	Spinal muscular atrophy, type III		22
HP:0003581	HP:0003581	Adult onset	0	SMN1 CL E G H	6606	11117	OMIM:271150	Spinal muscular atrophy, type IV	.	22
HP:0003581	HP:0003581	Adult onset	0	SMN2 CL E G H	6607	11118	OMIM:253400	Spinal muscular atrophy, type III		1
HP:0003581	HP:0003581	Adult onset	0	SMPD1 CL E G H	6609	11120	OMIM:607616	Niemann-pick disease, type B		164
HP:0003581	HP:0003581	Adult onset	0	SMPX CL E G H	23676	11122	OMIM:301075	MYOPATHY, DISTAL, 7, ADULT-ONSET, X-LINKED; MPD7		12
HP:0003581	HP:0003581	Adult onset	0	SNCA CL E G H	6622	11138	OMIM:605543	Parkinson disease 4		65
HP:0003581	HP:0003581	Adult onset	0	SNCAIP CL E G H	9627	11139	OMIM:168600	Parkinson disease, late-onset		35
HP:0003581	HP:0003581	Adult onset	0	SNORD118 CL E G H	727676	32952	OMIM:614561	Leukoencephalopathy, brain calcifications, and cysts		6
HP:0003581	HP:0003581	Adult onset	0	SNTA1 CL E G H	6640	11167	OMIM:612955	Long QT syndrome 12		118
HP:0003581	HP:0003581	Adult onset	0	SOCS1 CL E G H	8651	19383	OMIM:619375	AUTOINFLAMMATORY SYNDROME, FAMILIAL, WITH OR WITHOUT IMMUNODEFICIENCY; AISIMD		6
HP:0003581	HP:0003581	Adult onset	0	SOD1 CL E G H	6647	11179	OMIM:105400	Amyotrophic lateral sclerosis 1		53
HP:0003581	HP:0003581	Adult onset	0	SOST CL E G H	50964	13771	OMIM:269500	Sclerosteosis 1		26
HP:0003581	HP:0003581	Adult onset	0	SPAG17 CL E G H	200162	26620	OMIM:619380	SPERMATOGENIC FAILURE 55; SPGF55		2
HP:0003581	HP:0003581	Adult onset	0	SPG11 CL E G H	80208	11226	OMIM:602099	Amyotrophic lateral sclerosis 5, juvenile		287
HP:0003581	HP:0003581	Adult onset	0	SPG11 CL E G H	80208	11226	OMIM:604360	Spastic paraplegia 11, autosomal recessive	.	287
HP:0003581	HP:0003581	Adult onset	0	SPG21 CL E G H	51324	20373	OMIM:248900	Mast syndrome		28
HP:0003581	HP:0003581	Adult onset	0	SPG7 CL E G H	6687	11237	OMIM:607259	Spastic paraplegia 7, autosomal recessive		171
HP:0003581	HP:0003581	Adult onset	0	SPRY2 CL E G H	10253	11270	OMIM:616818	Iga nephropathy, susceptibility to, 3		1
HP:0003581	HP:0003581	Adult onset	0	SPTLC2 CL E G H	9517	11278	OMIM:613640	Neuropathy, hereditary sensory and autonomic, type IC		149
HP:0003581	HP:0003581	Adult onset	0	STAG3 CL E G H	10734	11356	OMIM:615723	Premature ovarian failure 8		4
HP:0003581	HP:0003581	Adult onset	0	STARD7 CL E G H	56910	18063	OMIM:607876	Epilepsy, familial adult myoclonic, 2
HP:0003581	HP:0003581	Adult onset	0	STAT1 CL E G H	6772	11362	OMIM:614162	Immunodeficiency 31C		89
HP:0003581	HP:0003581	Adult onset	0	STIM1 CL E G H	6786	11386	OMIM:160565	Myopathy, tubular aggregate, 1	.	31
HP:0003581	HP:0003581	Adult onset	0	STK11 CL E G H	6794	11389	OMIM:260350	Pancreatic cancer		740
HP:0003581	HP:0003581	Adult onset	0	STOX1 CL E G H	219736	23508	OMIM:609404	Preeclampsia/eclampsia 4		2
HP:0003581	HP:0003581	Adult onset	0	STRC CL E G H	161497	16035	OMIM:612997	Spermatogenic failure 7		78
HP:0003581	HP:0003581	Adult onset	0	STT3A CL E G H	3703	6172	OMIM:619714	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iw, AUTOSOMAL DOMINANT; CDG1WAD		21
HP:0003581	HP:0003581	Adult onset	0	STUB1 CL E G H	10273	11427	OMIM:618093	SPINOCEREBELLAR ATAXIA 48; SCA48		14
HP:0003581	HP:0003581	Adult onset	0	SUFU CL E G H	51684	16466	OMIM:607174	Meningioma, familial, susceptibility to	.	124
HP:0003581	HP:0003581	Adult onset	0	SYCE1 CL E G H	93426	28852	OMIM:616950	Spermatogenic failure 15		4
HP:0003581	HP:0003581	Adult onset	0	SYCP2 CL E G H	10388	11490	OMIM:258150	SPERMATOGENIC FAILURE 1; SPGF1		1
HP:0003581	HP:0003581	Adult onset	0	SYCP3 CL E G H	50511	18130	OMIM:270960	Spermatogenic failure 4		12
HP:0003581	HP:0003581	Adult onset	0	SYNE1 CL E G H	23345	17089	OMIM:610743	Spinocerebellar ataxia, autosomal recessive 8	.	1129
HP:0003581	HP:0003581	Adult onset	0	TAF1 CL E G H	6872	11535	OMIM:314250	Dystonia 3, torsion, X-linked	.	21
HP:0003581	HP:0003581	Adult onset	0	TAF4B CL E G H	6875	11538	OMIM:615841	Spermatogenic failure 13		1
HP:0003581	HP:0003581	Adult onset	0	TARDBP CL E G H	23435	11571	OMIM:612069	Amyotrophic lateral sclerosis 10 with or without frontotemporal dementia		65
HP:0003581	HP:0003581	Adult onset	0	TBC1D24 CL E G H	57465	29203	OMIM:616044	Deafness, autosomal dominant 65		271
HP:0003581	HP:0003581	Adult onset	0	TBK1 CL E G H	29110	11584	OMIM:617900	Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8		20
HP:0003581	HP:0003581	Adult onset	0	TBK1 CL E G H	29110	11584	OMIM:616439	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4	.	20
HP:0003581	HP:0003581	Adult onset	0	TBP CL E G H	6908	11588	OMIM:168600	Parkinson disease, late-onset		7
HP:0003581	HP:0003581	Adult onset	0	TBP CL E G H	6908	11588	OMIM:607136	Spinocerebellar ataxia 17		7
HP:0003581	HP:0003581	Adult onset	0	TBX18 CL E G H	9096	11595	OMIM:143400	Congenital anomalies of kidney and urinary tract 2		5
HP:0003581	HP:0003581	Adult onset	0	TBX3 CL E G H	6926	11602	OMIM:181450	Ulnar-Mammary syndrome		100
HP:0003581	HP:0003581	Adult onset	0	TCAP CL E G H	8557	11610	OMIM:607487	Cardiomyopathy, familial hypertrophic, 25		78
HP:0003581	HP:0003581	Adult onset	0	TCF7L2 CL E G H	6934	11641	OMIM:125853	Diabetes mellitus, noninsulin-dependent		4
HP:0003581	HP:0003581	Adult onset	0	TECRL CL E G H	253017	27365	OMIM:614021	Ventricular tachycardia, catecholaminergic polymorphic, 3		4
HP:0003581	HP:0003581	Adult onset	0	TERB1 CL E G H	283847	26675	OMIM:619646	SPERMATOGENIC FAILURE 60; SPGF60
HP:0003581	HP:0003581	Adult onset	0	TERB2 CL E G H	145645	28520	OMIM:619645	SPERMATOGENIC FAILURE 59; SPGF59
HP:0003581	HP:0003581	Adult onset	0	TERC CL E G H	7012	11727	OMIM:614743	Pulmonary fibrosis and/or bone marrow failure, telomere-related, 2	.	48
HP:0003581	HP:0003581	Adult onset	0	TERT CL E G H	7015	11730	OMIM:613989	Dyskeratosis congenita, autosomal dominant 2		238
HP:0003581	HP:0003581	Adult onset	0	TERT CL E G H	7015	11730	OMIM:614742	PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1; PFBMFT1		238
HP:0003581	HP:0003581	Adult onset	0	TFG CL E G H	10342	11758	OMIM:604484	Neuropathy, hereditary motor and sensory, Okinawa type	.	18
HP:0003581	HP:0003581	Adult onset	0	TGFBI CL E G H	7045	11771	OMIM:121820	Corneal dystrophy, epithelial basement membrane		58
HP:0003581	HP:0003581	Adult onset	0	TGFBR1 CL E G H	7046	11772	OMIM:132800	Multiple self-healing squamous epithelioma		239
HP:0003581	HP:0003581	Adult onset	0	TGM6 CL E G H	343641	16255	OMIM:613908	Spinocerebellar ataxia 35	.	58
HP:0003581	HP:0003581	Adult onset	0	THAP1 CL E G H	55145	20856	OMIM:602629	Dystonia 6, torsion		42
HP:0003581	HP:0003581	Adult onset	0	THBD CL E G H	7056	11784	OMIM:614486	Thrombophilia due to thrombomodulin defect		60
HP:0003581	HP:0003581	Adult onset	0	THSD1 CL E G H	55901	17754	OMIM:618734	ANEURYSM, INTRACRANIAL BERRY, 12; ANIB12		2
HP:0003581	HP:0003581	Adult onset	0	THSD4 CL E G H	79875	25835	OMIM:619825	AORTIC ANEURYSM, FAMILIAL THORACIC 12; AAT12		2
HP:0003581	HP:0003581	Adult onset	0	TIA1 CL E G H	7072	11802	OMIM:619133	AMYOTROPHIC LATERAL SCLEROSIS 26 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA; ALS26		5
HP:0003581	HP:0003581	Adult onset	0	TIA1 CL E G H	7072	11802	OMIM:604454	Welander distal myopathy	.	5
HP:0003581	HP:0003581	Adult onset	0	TIE1 CL E G H	7075	11809	OMIM:619401	LYMPHATIC MALFORMATION 11; LMPHM11
HP:0003581	HP:0003581	Adult onset	0	TIMP3 CL E G H	7078	11822	OMIM:136900	Sorsby fundus dystrophy		95
HP:0003581	HP:0003581	Adult onset	0	TINF2 CL E G H	26277	11824	OMIM:613990	Dyskeratosis congenita, autosomal dominant 3		60
HP:0003581	HP:0003581	Adult onset	0	TLCD3B CL E G H	83723	25295	OMIM:619531	CONE-ROD DYSTROPHY 22; CORD22
HP:0003581	HP:0003581	Adult onset	0	TLR7 CL E G H	51284	15631	OMIM:301080
HP:0003581	HP:0003581	Adult onset	0	TLR8 CL E G H	51311	15632	OMIM:301078	IMMUNODEFICIENCY 98 WITH AUTOINFLAMMATION, X-LINKED; IMD98
HP:0003581	HP:0003581	Adult onset	0	TMEM240 CL E G H	339453	25186	OMIM:607454	Spinocerebellar ataxia 21		9
HP:0003581	HP:0003581	Adult onset	0	TMEM43 CL E G H	79188	28472	OMIM:604400	Arrhythmogenic right ventricular dysplasia, familial, 5		171
HP:0003581	HP:0003581	Adult onset	0	TMEM43 CL E G H	79188	28472	OMIM:619832	AUDITORY NEUROPATHY, AUTOSOMAL DOMINANT 3; AUNA3		171
HP:0003581	HP:0003581	Adult onset	0	TMEM43 CL E G H	79188	28472	OMIM:614302	Emery-Dreifuss muscular dystrophy 7, autosomal dominant	.	171
HP:0003581	HP:0003581	Adult onset	0	TNFAIP3 CL E G H	7128	11896	OMIM:616744	AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE; AISBL		26
HP:0003581	HP:0003581	Adult onset	0	TNFRSF13C CL E G H	115650	17755	OMIM:613494	Immunodeficiency, common variable, 4		12
HP:0003581	HP:0003581	Adult onset	0	TNNC1 CL E G H	7134	11943	OMIM:611879	CARDIOMYOPATHY, DILATED, 1Z; CMD1Z		73
HP:0003581	HP:0003581	Adult onset	0	TNNC1 CL E G H	7134	11943	OMIM:613243	Cardiomyopathy, familial hypertrophic, 13		73
HP:0003581	HP:0003581	Adult onset	0	TNNI3 CL E G H	7137	11947	OMIM:613286	Cardiomyopathy, dilated, 1ff		180
HP:0003581	HP:0003581	Adult onset	0	TNNI3 CL E G H	7137	11947	OMIM:611880	Cardiomyopathy, dilated, 2A		180
HP:0003581	HP:0003581	Adult onset	0	TNNI3 CL E G H	7137	11947	OMIM:613690	Cardiomyopathy, familial hypertrophic, 7		180
HP:0003581	HP:0003581	Adult onset	0	TNNT2 CL E G H	7139	11949	OMIM:601494	Cardiomyopathy, dilated, 1D		248
HP:0003581	HP:0003581	Adult onset	0	TNNT2 CL E G H	7139	11949	OMIM:115195	Cardiomyopathy, familial hypertrophic, 2		248
HP:0003581	HP:0003581	Adult onset	0	TNPO3 CL E G H	23534	17103	OMIM:608423	Muscular dystrophy, limb-girdle, autosomal dominant 2	.	71
HP:0003581	HP:0003581	Adult onset	0	TNRC6A CL E G H	27327	11969	OMIM:618074	EPILEPSY, FAMILIAL ADULT MYOCLONIC, 6; FAME6
HP:0003581	HP:0003581	Adult onset	0	TOP3A CL E G H	7156	11992	OMIM:618098	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5	.
HP:0003581	HP:0003581	Adult onset	0	TOR1A CL E G H	1861	3098	OMIM:128100	Dystonia 1, torsion, autosomal dominant		47
HP:0003581	HP:0003581	Adult onset	0	TOR1AIP1 CL E G H	26092	29456	OMIM:617072	Muscular dystrophy, limb-girdle, type 2Y		10
HP:0003581	HP:0003581	Adult onset	0	TP53 CL E G H	7157	11998	OMIM:260350	Pancreatic cancer		911
HP:0003581	HP:0003581	Adult onset	0	TP53 CL E G H	7157	11998	OMIM:260500	Papilloma of choroid plexus		911
HP:0003581	HP:0003581	Adult onset	0	TPM1 CL E G H	7168	12010	OMIM:611878	Cardiomyopathy, dilated, 1Y		230
HP:0003581	HP:0003581	Adult onset	0	TRDN CL E G H	10345	12261	OMIM:604772	VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY; CPVT1		145
HP:0003581	HP:0003581	Adult onset	0	TREX1 CL E G H	11277	12269	OMIM:192315	Vasculopathy, retinal, with cerebral leukodystrophy	.	56
HP:0003581	HP:0003581	Adult onset	0	TRIM32 CL E G H	22954	16380	OMIM:254110	Muscular dystrophy, limb-girdle, type 2H		108
HP:0003581	HP:0003581	Adult onset	0	TRMT5 CL E G H	57570	23141	OMIM:616539	Combined oxidative phosphorylation deficiency 26		4
HP:0003581	HP:0003581	Adult onset	0	TRNT CL E G H	4576	7499	OMIM:168600	Parkinson disease, late-onset
HP:0003581	HP:0003581	Adult onset	0	TRPC3 CL E G H	7222	12335	OMIM:616410	Spinocerebellar ataxia 41	.	1
HP:0003581	HP:0003581	Adult onset	0	TRPV4 CL E G H	59341	18083	OMIM:606071	Hereditary motor and sensory neuropathy, type IIC		214
HP:0003581	HP:0003581	Adult onset	0	TSC1 CL E G H	7248	12362	OMIM:607341	Focal cortical dysplasia of taylor	.	1090
HP:0003581	HP:0003581	Adult onset	0	TSC2 CL E G H	7249	12363	OMIM:607341	Focal cortical dysplasia of taylor	.	2738
HP:0003581	HP:0003581	Adult onset	0	TTBK2 CL E G H	146057	19141	OMIM:604432	Spinocerebellar ataxia 11	.	57
HP:0003581	HP:0003581	Adult onset	0	TTC21A CL E G H	199223	30761	OMIM:618429	Spermatogenic failure 37
HP:0003581	HP:0003581	Adult onset	0	TTLL5 CL E G H	23093	19963	OMIM:615860	Cone-Rod dystrophy 19		9
HP:0003581	HP:0003581	Adult onset	0	TTN CL E G H	7273	12403	OMIM:604145	CARDIOMYOPATHY, DILATED, 1G; CMD1G		7128
HP:0003581	HP:0003581	Adult onset	0	TTN CL E G H	7273	12403	OMIM:613765	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 9; CMH9		7128
HP:0003581	HP:0003581	Adult onset	0	TTN CL E G H	7273	12403	OMIM:608807	Muscular dystrophy, limb-girdle, autosomal recessive 10		7128
HP:0003581	HP:0003581	Adult onset	0	TTN CL E G H	7273	12403	OMIM:603689	Myopathy, myofibrillar, 9, with early respiratory failure		7128
HP:0003581	HP:0003581	Adult onset	0	TTN CL E G H	7273	12403	OMIM:600334	Tibial muscular dystrophy, tardive	.	7128
HP:0003581	HP:0003581	Adult onset	0	TTR CL E G H	7276	12405	OMIM:105210	Amyloidosis, hereditary, transthyretin-related	.	107
HP:0003581	HP:0003581	Adult onset	0	TUBB4A CL E G H	10382	20774	OMIM:128101	Dystonia 4, torsion, autosomal dominant		66
HP:0003581	HP:0003581	Adult onset	0	TULP3 CL E G H	7289	12425	OMIM:619902
HP:0003581	HP:0003581	Adult onset	0	TWNK CL E G H	56652	1160	OMIM:609286	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3	.	113
HP:0003581	HP:0003581	Adult onset	0	TWNK CL E G H	56652	1160	OMIM:607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis	.	113
HP:0003581	HP:0003581	Adult onset	0	TYROBP CL E G H	7305	12449	OMIM:221770	Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy		22
HP:0003581	HP:0003581	Adult onset	0	UBA1 CL E G H	7317	12469	OMIM:301054	VEXAS SYNDROME; VEXAS		35
HP:0003581	HP:0003581	Adult onset	0	UBQLN2 CL E G H	29978	12509	OMIM:300857	Amyotrophic lateral sclerosis 15 with or without frontotemporal dementia	.	20
HP:0003581	HP:0003581	Adult onset	0	UNC13D CL E G H	201294	23147	OMIM:608898	HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3; FHL3		116
HP:0003581	HP:0003581	Adult onset	0	UQCRC1 CL E G H	7384	12585	OMIM:619279	PARKINSONISM WITH POLYNEUROPATHY; PKNPY
HP:0003581	HP:0003581	Adult onset	0	USP9Y CL E G H	8287	12633	OMIM:415000	SPERMATOGENIC FAILURE, NONOBSTRUCTIVE, Y-LINKED		2
HP:0003581	HP:0003581	Adult onset	0	VAMP1 CL E G H	6843	12642	OMIM:108600	Spastic ataxia 1, autosomal dominant		2
HP:0003581	HP:0003581	Adult onset	0	VAPB CL E G H	9217	12649	OMIM:608627	Amyotrophic lateral sclerosis 8		116
HP:0003581	HP:0003581	Adult onset	0	VAPB CL E G H	9217	12649	OMIM:182980	Spinal muscular atrophy, proximal, adult, autosomal dominantspinal muscular atrophy, late-onset, finkel type, included		116
HP:0003581	HP:0003581	Adult onset	0	VCL CL E G H	7414	12665	OMIM:611407	CARDIOMYOPATHY, DILATED, 1W; CMD1W		248
HP:0003581	HP:0003581	Adult onset	0	VCL CL E G H	7414	12665	OMIM:613255	Cardiomyopathy, familial hypertrophic, 15		248
HP:0003581	HP:0003581	Adult onset	0	VCP CL E G H	7415	12666	OMIM:613954	Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia		63
HP:0003581	HP:0003581	Adult onset	0	VCP CL E G H	7415	12666	OMIM:167320	Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 1		63
HP:0003581	HP:0003581	Adult onset	0	VCY CL E G H	9084	12668	OMIM:415000	SPERMATOGENIC FAILURE, NONOBSTRUCTIVE, Y-LINKED		2
HP:0003581	HP:0003581	Adult onset	0	VHL CL E G H	7428	12687	OMIM:193300	Von hippel-lindau syndrome		490
HP:0003581	HP:0003581	Adult onset	0	VPS11 CL E G H	55823	14583	OMIM:619637	DYSTONIA 32; DYT32		1
HP:0003581	HP:0003581	Adult onset	0	VPS13D CL E G H	55187	23595	OMIM:607317	Spinocerebellar ataxia, autosomal recessive 4	.
HP:0003581	HP:0003581	Adult onset	0	VPS16 CL E G H	64601	14584	OMIM:619291	DYSTONIA 30; DYT30
HP:0003581	HP:0003581	Adult onset	0	VSX1 CL E G H	30813	12723	OMIM:148300	Keratoconus 1		47
HP:0003581	HP:0003581	Adult onset	0	WASHC5 CL E G H	9897	28984	OMIM:603563	Spastic paraplegia 8, autosomal dominant	.	83
HP:0003581	HP:0003581	Adult onset	0	WDR19 CL E G H	57728	18340	OMIM:619867			95
HP:0003581	HP:0003581	Adult onset	0	WFS1 CL E G H	7466	12762	OMIM:125853	Diabetes mellitus, noninsulin-dependent		389
HP:0003581	HP:0003581	Adult onset	0	XK CL E G H	7504	12811	OMIM:300842	Mcleod syndrome		8
HP:0003581	HP:0003581	Adult onset	0	XPR1 CL E G H	9213	12827	OMIM:616413	Basal ganglia calcification, idiopathic, 6		4
HP:0003581	HP:0003581	Adult onset	0	XRCC1 CL E G H	7515	12828	OMIM:617633	Spinocerebellar ataxia, autosomal recessive 26		4
HP:0003581	HP:0003581	Adult onset	0	XRCC2 CL E G H	7516	12829	OMIM:619146	PREMATURE OVARIAN FAILURE 17; POF17		125
HP:0003581	HP:0003581	Adult onset	0	YARS1 CL E G H	8565	12840	OMIM:608323	Charcot-Marie-Tooth disease, dominant intermediate C
HP:0003581	HP:0003581	Adult onset	0	ZMYND15 CL E G H	84225	20997	OMIM:615842	Spermatogenic failure 14		1
HP:0003581	HP:0003581	Adult onset	0	ZNF408 CL E G H	79797	20041	OMIM:616469	Retinitis pigmentosa 72		14
HP:0003581	HP:0003581	Adult onset	0	ZNF687 CL E G H	57592	29277	OMIM:616833	Paget disease of bone 6	.	2
HP:0003581	HP:0003581	Adult onset	0	ZP1 CL E G H	22917	13187	OMIM:615774	Oocyte maturation defect		1
HP:0003581	HP:0003581	Adult onset	0	ZP3 CL E G H	7784	13189	OMIM:617712	Oocyte maturation defect 3
HP:0003581	HP:0003581	Adult onset	0	ZPBP CL E G H	11055	15662	OMIM:619799	SPERMATOGENIC FAILURE 66; SPGF66
HP:0003581	HP:0003581	Adult onset	0	ZSWIM7 CL E G H	125150	26993	OMIM:619831	SPERMATOGENIC FAILURE 71; SPGF71
HP:0003581	HP:0011462	Young adult onset	1	AAAS CL E G H	8086	13666	OMIM:231550	Achalasia-Addisonianism-Alacrima syndrome		57
HP:0003581	HP:0003584	Late onset	1	AAGAB CL E G H	79719	25662	OMIM:148600	Palmoplantar keratoderma, punctate type IA	.	7
HP:0003581	HP:0003596	Middle age onset	1	AARS1 CL E G H	16	20	OMIM:613287	Charcot-Marie-Tooth disease, axonal, type 2N
HP:0003581	HP:0011462	Young adult onset	1	AARS1 CL E G H	16	20	OMIM:613287	Charcot-Marie-Tooth disease, axonal, type 2N
HP:0003581	HP:0011462	Young adult onset	1	ABCA4 CL E G H	24	34	OMIM:604116	CONE-ROD DYSTROPHY 3; CORD3		826
HP:0003581	HP:0003584	Late onset	1	ABCA7 CL E G H	10347	37	OMIM:608907	Alzheimer disease 9, susceptibility to		3
HP:0003581	HP:0003584	Late onset	1	ABCC8 CL E G H	6833	59	OMIM:125853	Diabetes mellitus, noninsulin-dependent	.	245
HP:0003581	HP:0003596	Middle age onset	1	ABCC9 CL E G H	10060	60	OMIM:614050	Atrial fibrillation, familial, 12		254
HP:0003581	HP:0003596	Middle age onset	1	ABCC9 CL E G H	10060	60	OMIM:608569	CARDIOMYOPATHY, DILATED, 1O; CMD1O		254
HP:0003581	HP:0011462	Young adult onset	1	ABHD12 CL E G H	26090	15868	OMIM:612674	Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract		50
HP:0003581	HP:0011462	Young adult onset	1	ACTA1 CL E G H	58	129	OMIM:616852	Myopathy, scapulohumeroperoneal		96
HP:0003581	HP:0003596	Middle age onset	1	ACTC1 CL E G H	70	143	OMIM:613424	Cardiomyopathy, dilated, 1R		208
HP:0003581	HP:0011462	Young adult onset	1	ACTC1 CL E G H	70	143	OMIM:613424	Cardiomyopathy, dilated, 1R		208
HP:0003581	HP:0003584	Late onset	1	ACTC1 CL E G H	70	143	OMIM:612098	Cardiomyopathy, familial hypertrophic, 11		208
HP:0003581	HP:0003596	Middle age onset	1	ACTC1 CL E G H	70	143	OMIM:612098	Cardiomyopathy, familial hypertrophic, 11		208
HP:0003581	HP:0011462	Young adult onset	1	ACTC1 CL E G H	70	143	OMIM:612098	Cardiomyopathy, familial hypertrophic, 11		208
HP:0003581	HP:0011462	Young adult onset	1	ACTG1 CL E G H	71	144	OMIM:604717	Deafness, autosomal dominant 20	.	123
HP:0003581	HP:0011462	Young adult onset	1	ACTN2 CL E G H	88	164	OMIM:612158	Cardiomyopathy, dilated, 1aa, with or without left ventricular noncompaction		307
HP:0003581	HP:0011462	Young adult onset	1	ADGRG2 CL E G H	10149	4516	OMIM:300985	Vas deferens, congenital bilateral aplasia of, X-linked		5
HP:0003581	HP:0003584	Late onset	1	ADH1C CL E G H	126	251	OMIM:168600	Parkinson disease, late-onset		4
HP:0003581	HP:0011462	Young adult onset	1	AFG3L2 CL E G H	10939	315	OMIM:610246	Spinocerebellar ataxia 28		86
HP:0003581	HP:0011462	Young adult onset	1	AIP CL E G H	9049	358	OMIM:102200	Pituitary adenoma, growth hormone-secreting, 1		95
HP:0003581	HP:0003584	Late onset	1	AKT2 CL E G H	208	392	OMIM:125853	Diabetes mellitus, noninsulin-dependent	.	12
HP:0003581	HP:0011462	Young adult onset	1	ALDH18A1 CL E G H	5832	9722	OMIM:601162	Spastic paraplegia 9A, autosomal dominant		89
HP:0003581	HP:0011462	Young adult onset	1	ALDH5A1 CL E G H	7915	408	OMIM:271980	Succinic semialdehyde dehydrogenase deficiency		108
HP:0003581	HP:0011462	Young adult onset	1	ALG10B CL E G H	144245	31088	OMIM:613688	Long QT syndrome 2		3
HP:0003581	HP:0011462	Young adult onset	1	AMACR CL E G H	23600	451	OMIM:614307	Alpha-methylacyl-CoA racemase deficiency		44
HP:0003581	HP:0011462	Young adult onset	1	ANLN CL E G H	54443	14082	OMIM:616032	Focal segmental glomerulosclerosis 8		6
HP:0003581	HP:0003584	Late onset	1	ANLN CL E G H	54443	14082	OMIM:616032	Focal segmental glomerulosclerosis 8		6
HP:0003581	HP:0011462	Young adult onset	1	ANO3 CL E G H	63982	14004	OMIM:615034	Dystonia 24		17
HP:0003581	HP:0003596	Middle age onset	1	ANXA11 CL E G H	311	535	OMIM:617839	Amyotrophic lateral sclerosis 23
HP:0003581	HP:0003584	Late onset	1	ANXA11 CL E G H	311	535	OMIM:617839	Amyotrophic lateral sclerosis 23
HP:0003581	HP:0011462	Young adult onset	1	ANXA11 CL E G H	311	535	OMIM:619733	INCLUSION BODY MYOPATHY AND BRAIN WHITE MATTER ABNORMALITIES; IBMWMA
HP:0003581	HP:0003596	Middle age onset	1	ANXA11 CL E G H	311	535	OMIM:619733	INCLUSION BODY MYOPATHY AND BRAIN WHITE MATTER ABNORMALITIES; IBMWMA
HP:0003581	HP:0011462	Young adult onset	1	AOPEP CL E G H	84909	1361	OMIM:619565	DYSTONIA 31; DYT31
HP:0003581	HP:0003596	Middle age onset	1	APC CL E G H	324	583	OMIM:135290	Desmoid disease, hereditary		3179
HP:0003581	HP:0011462	Young adult onset	1	APC CL E G H	324	583	OMIM:135290	Desmoid disease, hereditary		3179
HP:0003581	HP:0011462	Young adult onset	1	APOA1 CL E G H	335	600	OMIM:618463	HYPOALPHALIPOPROTEINEMIA, PRIMARY, 2		40
HP:0003581	HP:0003584	Late onset	1	APOE CL E G H	348	613	OMIM:104310	Alzheimer disease 2	.	39
HP:0003581	HP:0003596	Middle age onset	1	APOE CL E G H	348	613	OMIM:606889	Alzheimer disease 4		39
HP:0003581	HP:0003584	Late onset	1	APOE CL E G H	348	613	OMIM:603075	Macular degeneration, age-related, 1		39
HP:0003581	HP:0011462	Young adult onset	1	ASTL CL E G H	431705	31704	OMIM:619643	OOCYTE MATURATION DEFECT 11; OOMD11
HP:0003581	HP:0011462	Young adult onset	1	ATL1 CL E G H	51062	11231	OMIM:613708	Neuropathy, hereditary sensory, type ID		71
HP:0003581	HP:0003584	Late onset	1	ATN1 CL E G H	1822	3033	OMIM:125370	Dentatorubral-Pallidoluysian atrophy naito-oyanagi disease haw river syndrome ataxia, chorea, seizures, and dementia		16
HP:0003581	HP:0011462	Young adult onset	1	ATN1 CL E G H	1822	3033	OMIM:125370	Dentatorubral-Pallidoluysian atrophy naito-oyanagi disease haw river syndrome ataxia, chorea, seizures, and dementia		16
HP:0003581	HP:0003596	Middle age onset	1	ATN1 CL E G H	1822	3033	OMIM:125370	Dentatorubral-Pallidoluysian atrophy naito-oyanagi disease haw river syndrome ataxia, chorea, seizures, and dementia		16
HP:0003581	HP:0011462	Young adult onset	1	ATP11A CL E G H	23250	13552	OMIM:619810	DEAFNESS, AUTOSOMAL DOMINANT 84; DFNA84
HP:0003581	HP:0011462	Young adult onset	1	ATP13A2 CL E G H	23400	30213	OMIM:606693	Kufor-Rakeb syndrome		100
HP:0003581	HP:0011462	Young adult onset	1	ATP1A2 CL E G H	477	800	OMIM:602481	Migraine, familial hemiplegic, 2		239
HP:0003581	HP:0011462	Young adult onset	1	ATP1A3 CL E G H	478	801	OMIM:128235	Dystonia 12	HP:0040282 - Frequent	150
HP:0003581	HP:0003596	Middle age onset	1	ATP2B2 CL E G H	491	815	OMIM:619804	DEAFNESS, AUTOSOMAL DOMINANT 82; DFNA82		5
HP:0003581	HP:0011462	Young adult onset	1	ATP6AP2 CL E G H	10159	18305	OMIM:300911	Parkinsonism with spasticity, X-linked		36
HP:0003581	HP:0003596	Middle age onset	1	ATP6AP2 CL E G H	10159	18305	OMIM:300911	Parkinsonism with spasticity, X-linked		36
HP:0003581	HP:0011462	Young adult onset	1	ATP6V0A1 CL E G H	535	865	OMIM:619971			1
HP:0003581	HP:0011462	Young adult onset	1	ATP7B CL E G H	540	870	OMIM:277900	Wilson disease		315
HP:0003581	HP:0003596	Middle age onset	1	ATXN10 CL E G H	25814	10549	OMIM:603516	Spinocerebellar ataxia 10		9
HP:0003581	HP:0011462	Young adult onset	1	ATXN10 CL E G H	25814	10549	OMIM:603516	Spinocerebellar ataxia 10		9
HP:0003581	HP:0003584	Late onset	1	ATXN2 CL E G H	6311	10555	OMIM:168600	Parkinson disease, late-onset		11
HP:0003581	HP:0003584	Late onset	1	ATXN2 CL E G H	6311	10555	OMIM:183090	Spinocerebellar ataxia 2		11
HP:0003581	HP:0011462	Young adult onset	1	ATXN2 CL E G H	6311	10555	OMIM:183090	Spinocerebellar ataxia 2		11
HP:0003581	HP:0011462	Young adult onset	1	ATXN3 CL E G H	4287	7106	OMIM:109150	Machado-Joseph disease		14
HP:0003581	HP:0003584	Late onset	1	ATXN8OS CL E G H	6315	10561	OMIM:168600	Parkinson disease, late-onset		1
HP:0003581	HP:0011462	Young adult onset	1	AURKC CL E G H	6795	11391	OMIM:243060	Male infertility with large-headed, multiflagellar, polyploid spermatozoa		12
HP:0003581	HP:0011462	Young adult onset	1	B2M CL E G H	567	914	OMIM:241600	Immunodeficiency 43		8
HP:0003581	HP:0003584	Late onset	1	BAG3 CL E G H	9531	939	OMIM:613881	Cardiomyopathy, dilated, 1hh		204
HP:0003581	HP:0011462	Young adult onset	1	BAG3 CL E G H	9531	939	OMIM:613881	Cardiomyopathy, dilated, 1hh		204
HP:0003581	HP:0003596	Middle age onset	1	BAG3 CL E G H	9531	939	OMIM:613881	Cardiomyopathy, dilated, 1hh		204
HP:0003581	HP:0011462	Young adult onset	1	BAG5 CL E G H	9529	941	OMIM:619747	CARDIOMYOPATHY, DILATED, 2F; CMD2F
HP:0003581	HP:0003584	Late onset	1	BAP1 CL E G H	8314	950	OMIM:614327	Tumor predisposition syndrome		184
HP:0003581	HP:0003596	Middle age onset	1	BAP1 CL E G H	8314	950	OMIM:614327	Tumor predisposition syndrome		184
HP:0003581	HP:0011462	Young adult onset	1	BAP1 CL E G H	8314	950	OMIM:614327	Tumor predisposition syndrome		184
HP:0003581	HP:0003584	Late onset	1	BEAN1 CL E G H	146227	24160	OMIM:117210	Spinocerebellar ataxia 31	HP:0040282 - Frequent	1
HP:0003581	HP:0011462	Young adult onset	1	BLK CL E G H	640	1057	OMIM:613375	Maturity-onset diabetes of the young, type 11		75
HP:0003581	HP:0003584	Late onset	1	BLVRA CL E G H	644	1062	OMIM:614156	Hyperbiliverdinemia		2
HP:0003581	HP:0011462	Young adult onset	1	BMPR2 CL E G H	659	1078	OMIM:178600	Pulmonary hypertension, primary, 1		525
HP:0003581	HP:0003596	Middle age onset	1	BMPR2 CL E G H	659	1078	OMIM:178600	Pulmonary hypertension, primary, 1		525
HP:0003581	HP:0011462	Young adult onset	1	BPY2 CL E G H	9083	13508	OMIM:415000	SPERMATOGENIC FAILURE, NONOBSTRUCTIVE, Y-LINKED
HP:0003581	HP:0003596	Middle age onset	1	BRCA1 CL E G H	672	1100	OMIM:604370	Breast-Ovarian cancer, familial, susceptibility to, 1		5769
HP:0003581	HP:0011462	Young adult onset	1	BVES CL E G H	11149	1152	OMIM:616812	Muscular dystrophy, limb-girdle, autosomal recessive 25		2
HP:0003581	HP:0003596	Middle age onset	1	BVES CL E G H	11149	1152	OMIM:616812	Muscular dystrophy, limb-girdle, autosomal recessive 25		2
HP:0003581	HP:0011462	Young adult onset	1	C14ORF39 CL E G H	317761	19849	OMIM:619203	PREMATURE OVARIAN FAILURE 18; POF18
HP:0003581	HP:0011462	Young adult onset	1	C14ORF39 CL E G H	317761	19849	OMIM:619202	SPERMATOGENIC FAILURE 52; SPGF52
HP:0003581	HP:0011462	Young adult onset	1	C19ORF12 CL E G H	83636	25443	OMIM:614298	Neurodegeneration with brain iron accumulation 4		114
HP:0003581	HP:0011462	Young adult onset	1	C2CD6 CL E G H	151254	14438	OMIM:619805	SPERMATOGENIC FAILURE 68; SPGF68		1
HP:0003581	HP:0011462	Young adult onset	1	CACNA1A CL E G H	773	1388	OMIM:141500	Migraine, familial hemiplegic, 1		449
HP:0003581	HP:0011462	Young adult onset	1	CACNB4 CL E G H	785	1404	OMIM:607682	Epilepsy, idiopathic generalized, susceptibility to, 9		146
HP:0003581	HP:0011462	Young adult onset	1	CACNB4 CL E G H	785	1404	OMIM:613855	Episodic ataxia, type 5		146
HP:0003581	HP:0003596	Middle age onset	1	CADM3 CL E G H	57863	17601	OMIM:619519	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2FF; CMT2FF		1
HP:0003581	HP:0011462	Young adult onset	1	CAPN3 CL E G H	825	1480	OMIM:618129	Muscular dystrophy, limb-girdle, autosomal dominant 4		323
HP:0003581	HP:0003584	Late onset	1	CAPN3 CL E G H	825	1480	OMIM:618129	Muscular dystrophy, limb-girdle, autosomal dominant 4		323
HP:0003581	HP:0003596	Middle age onset	1	CAPN3 CL E G H	825	1480	OMIM:618129	Muscular dystrophy, limb-girdle, autosomal dominant 4		323
HP:0003581	HP:0011462	Young adult onset	1	CARD9 CL E G H	64170	16391	OMIM:212050	Candidiasis, familial chronic mucocutaneous, autosomal recessive		45
HP:0003581	HP:0003596	Middle age onset	1	CASK CL E G H	8573	1497	OMIM:300908	Anemia, nonspherocytic hemolytic, due to g6pd deficiency		118
HP:0003581	HP:0011462	Young adult onset	1	CASK CL E G H	8573	1497	OMIM:300908	Anemia, nonspherocytic hemolytic, due to g6pd deficiency		118
HP:0003581	HP:0011462	Young adult onset	1	CASQ2 CL E G H	845	1513	OMIM:604772	VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY; CPVT1		129
HP:0003581	HP:0011462	Young adult onset	1	CASR CL E G H	846	1514	OMIM:601198	Hypocalcemia, autosomal dominant 1		272
HP:0003581	HP:0011462	Young adult onset	1	CATIP CL E G H	375307	25062	OMIM:619379	SPERMATOGENIC FAILURE 54; SPGF54
HP:0003581	HP:0011462	Young adult onset	1	CATSPER1 CL E G H	117144	17116	OMIM:612997	Spermatogenic failure 7		45
HP:0003581	HP:0011462	Young adult onset	1	CATSPER2 CL E G H	117155	18810	OMIM:612997	Spermatogenic failure 7		12
HP:0003581	HP:0011462	Young adult onset	1	CAV1 CL E G H	857	1527	OMIM:606721	Lipodystrophy, familial partial, type 7		11
HP:0003581	HP:0011462	Young adult onset	1	CAV1 CL E G H	857	1527	OMIM:615343	Pulmonary hypertension, primary, 3		11
HP:0003581	HP:0003596	Middle age onset	1	CAV1 CL E G H	857	1527	OMIM:615343	Pulmonary hypertension, primary, 3		11
HP:0003581	HP:0003584	Late onset	1	CAV1 CL E G H	857	1527	OMIM:615343	Pulmonary hypertension, primary, 3		11
HP:0003581	HP:0011462	Young adult onset	1	CAV3 CL E G H	859	1529	OMIM:611818	Long QT syndrome 9		148
HP:0003581	HP:0011462	Young adult onset	1	CC2D2A CL E G H	57545	29253	OMIM:619845	RETINITIS PIGMENTOSA 93; RP93		247
HP:0003581	HP:0011462	Young adult onset	1	CCDC34 CL E G H	91057	25079	OMIM:620084
HP:0003581	HP:0011462	Young adult onset	1	CCDC39 CL E G H	339829	25244	OMIM:613807	Ciliary dyskinesia, primary, 14		126
HP:0003581	HP:0011462	Young adult onset	1	CCDC62 CL E G H	84660	30723	OMIM:619803	SPERMATOGENIC FAILURE 67; SPGF67
HP:0003581	HP:0011462	Young adult onset	1	CCND1 CL E G H	595	1582	OMIM:193300	Von hippel-lindau syndrome		1
HP:0003581	HP:0003584	Late onset	1	CCNF CL E G H	899	1591	OMIM:619141	FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 5; FTDALS5
HP:0003581	HP:0003596	Middle age onset	1	CCNF CL E G H	899	1591	OMIM:619141	FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 5; FTDALS5
HP:0003581	HP:0011462	Young adult onset	1	CD164 CL E G H	8763	1632	OMIM:616969	DEAFNESS, AUTOSOMAL DOMINANT 66; DFNA66		1
HP:0003581	HP:0003596	Middle age onset	1	CDH2 CL E G H	1000	1759	OMIM:618920	ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 14; ARVD14
HP:0003581	HP:0011462	Young adult onset	1	CDH2 CL E G H	1000	1759	OMIM:618920	ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 14; ARVD14
HP:0003581	HP:0011462	Young adult onset	1	CDY1 CL E G H	9085	1809	OMIM:415000	SPERMATOGENIC FAILURE, NONOBSTRUCTIVE, Y-LINKED
HP:0003581	HP:0011462	Young adult onset	1	CDY2A CL E G H	9426	1810	OMIM:415000	SPERMATOGENIC FAILURE, NONOBSTRUCTIVE, Y-LINKED
HP:0003581	HP:0011462	Young adult onset	1	CEBPE CL E G H	1053	1836	OMIM:260570	Pelger-Huet-Like anomaly and episodic fever with abdominal pain		3
HP:0003581	HP:0011462	Young adult onset	1	CEP78 CL E G H	84131	25740	OMIM:617236	CONE-ROD DYSTROPHY AND HEARING LOSS; CRDHL		9
HP:0003581	HP:0011462	Young adult onset	1	CFAP43 CL E G H	80217	26684	OMIM:617592	Spermatogenic failure 19		6
HP:0003581	HP:0011462	Young adult onset	1	CFAP44 CL E G H	55779	25631	OMIM:617593	Spermatogenic failure 20		1
HP:0003581	HP:0003584	Late onset	1	CFHR1 CL E G H	3078	4888	OMIM:603075	Macular degeneration, age-related, 1
HP:0003581	HP:0003584	Late onset	1	CFHR3 CL E G H	10878	16980	OMIM:603075	Macular degeneration, age-related, 1
HP:0003581	HP:0011462	Young adult onset	1	CFI CL E G H	3426	5394	OMIM:612923	Hemolytic uremic syndrome, atypical, susceptibility to, 3		57
HP:0003581	HP:0003596	Middle age onset	1	CHCHD10 CL E G H	400916	15559	OMIM:615911	Frontotemporal dementia and/or amyotrophic lateral sclerosis 2		11
HP:0003581	HP:0003584	Late onset	1	CHCHD10 CL E G H	400916	15559	OMIM:615911	Frontotemporal dementia and/or amyotrophic lateral sclerosis 2		11
HP:0003581	HP:0003596	Middle age onset	1	CHCHD10 CL E G H	400916	15559	OMIM:615048	Spinal muscular atrophy, Jokela type		11
HP:0003581	HP:0011462	Young adult onset	1	CHCHD10 CL E G H	400916	15559	OMIM:615048	Spinal muscular atrophy, Jokela type		11
HP:0003581	HP:0003596	Middle age onset	1	CHMP2B CL E G H	25978	24537	OMIM:600795	Frontotemporal dementia and/or amytrophic lateral sclerosis 7		42
HP:0003581	HP:0011462	Young adult onset	1	CHRNA1 CL E G H	1134	1955	OMIM:601462	Myasthenic syndrome, congenital, 1A, slow-channel		74
HP:0003581	HP:0003596	Middle age onset	1	CHRNA1 CL E G H	1134	1955	OMIM:601462	Myasthenic syndrome, congenital, 1A, slow-channel		74
HP:0003581	HP:0011462	Young adult onset	1	CHRNA2 CL E G H	1135	1956	OMIM:610353	Epilepsy, nocturnal frontal lobe, 4		188
HP:0003581	HP:0011462	Young adult onset	1	CLCN1 CL E G H	1180	2019	OMIM:160800	Myotonia congenita, autosomal dominant		133
HP:0003581	HP:0011462	Young adult onset	1	CLCN1 CL E G H	1180	2019	OMIM:255700	Myotonia congenita, autosomal recessive		133
HP:0003581	HP:0003596	Middle age onset	1	CLCN2 CL E G H	1181	2020	OMIM:615651	Leukoencephalopathy with ataxia		44
HP:0003581	HP:0011462	Young adult onset	1	CLCN2 CL E G H	1181	2020	OMIM:615651	Leukoencephalopathy with ataxia		44
HP:0003581	HP:0003596	Middle age onset	1	CLEC3B CL E G H	7123	11891	OMIM:619977
HP:0003581	HP:0003584	Late onset	1	CLEC3B CL E G H	7123	11891	OMIM:619977
HP:0003581	HP:0003596	Middle age onset	1	CLN6 CL E G H	54982	2077	OMIM:204300	Ceroid lipofuscinosis, neuronal, 4A, autosomal recessive		143
HP:0003581	HP:0003584	Late onset	1	CLN6 CL E G H	54982	2077	OMIM:204300	Ceroid lipofuscinosis, neuronal, 4A, autosomal recessive		143
HP:0003581	HP:0011462	Young adult onset	1	CLN6 CL E G H	54982	2077	OMIM:204300	Ceroid lipofuscinosis, neuronal, 4A, autosomal recessive		143
HP:0003581	HP:0003596	Middle age onset	1	CNBP CL E G H	7555	13164	OMIM:602668	Dystrophia myotonica 2		1
HP:0003581	HP:0011462	Young adult onset	1	COCH CL E G H	1690	2180	OMIM:601369	Deafness, autosomal dominant 9	.	46
HP:0003581	HP:0011462	Young adult onset	1	COL2A1 CL E G H	1280	2200	OMIM:608805	Avascular necrosis of femoral head, primary, 1		284
HP:0003581	HP:0003596	Middle age onset	1	COL4A1 CL E G H	1282	2202	OMIM:618564	MICROANGIOPATHY AND LEUKOENCEPHALOPATHY, PONTINE, AUTOSOMAL DOMINANT; PADMAL		193
HP:0003581	HP:0011462	Young adult onset	1	COL4A1 CL E G H	1282	2202	OMIM:618564	MICROANGIOPATHY AND LEUKOENCEPHALOPATHY, PONTINE, AUTOSOMAL DOMINANT; PADMAL		193
HP:0003581	HP:0011462	Young adult onset	1	COL6A3 CL E G H	1293	2213	OMIM:616411	Dystonia 27		702
HP:0003581	HP:0011462	Young adult onset	1	CPOX CL E G H	1371	2321	OMIM:121300	Coproporphyria		72
HP:0003581	HP:0011462	Young adult onset	1	CPT2 CL E G H	1376	2330	OMIM:255110	Carnitine palmitoyltransferase II deficiency, myopathic, stress-induced		101
HP:0003581	HP:0003596	Middle age onset	1	CRYAB CL E G H	1410	2389	OMIM:615184	Cardiomyopathy, dilated, 1ii		46
HP:0003581	HP:0003596	Middle age onset	1	CSF1R CL E G H	1436	2433	OMIM:221820	Leukoencephalopathy, diffuse hereditary, with spheroids		149
HP:0003581	HP:0011462	Young adult onset	1	CSF1R CL E G H	1436	2433	OMIM:221820	Leukoencephalopathy, diffuse hereditary, with spheroids		149
HP:0003581	HP:0011462	Young adult onset	1	CTNS CL E G H	1497	2518	OMIM:219750	Cystinosis, adult nonnephropathic		178
HP:0003581	HP:0003584	Late onset	1	CYLD CL E G H	1540	2584	OMIM:619132	FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 8; FTDALS8		126
HP:0003581	HP:0011462	Young adult onset	1	CYLD CL E G H	1540	2584	OMIM:619132	FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 8; FTDALS8		126
HP:0003581	HP:0003596	Middle age onset	1	CYLD CL E G H	1540	2584	OMIM:619132	FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 8; FTDALS8		126
HP:0003581	HP:0011462	Young adult onset	1	CYP27A1 CL E G H	1593	2605	OMIM:213700	Cerebrotendinous xanthomatosis		114
HP:0003581	HP:0003596	Middle age onset	1	CYP7B1 CL E G H	9420	2652	OMIM:270800	Spastic paraplegia 5A, autosomal recessive		57
HP:0003581	HP:0011462	Young adult onset	1	CYP7B1 CL E G H	9420	2652	OMIM:270800	Spastic paraplegia 5A, autosomal recessive		57
HP:0003581	HP:0011462	Young adult onset	1	DAZ1 CL E G H	1617	2682	OMIM:415000	SPERMATOGENIC FAILURE, NONOBSTRUCTIVE, Y-LINKED
HP:0003581	HP:0011462	Young adult onset	1	DAZ2 CL E G H	57055	15964	OMIM:415000	SPERMATOGENIC FAILURE, NONOBSTRUCTIVE, Y-LINKED
HP:0003581	HP:0011462	Young adult onset	1	DAZ3 CL E G H	57054	15965	OMIM:415000	SPERMATOGENIC FAILURE, NONOBSTRUCTIVE, Y-LINKED
HP:0003581	HP:0011462	Young adult onset	1	DDX3Y CL E G H	8653	2699	OMIM:415000	SPERMATOGENIC FAILURE, NONOBSTRUCTIVE, Y-LINKED
HP:0003581	HP:0011462	Young adult onset	1	DHTKD1 CL E G H	55526	23537	OMIM:615025	Charcot-Marie-Tooth disease, axonal, type 2Q		12
HP:0003581	HP:0011462	Young adult onset	1	DIAPH2 CL E G H	1730	2877	OMIM:300511	Premature ovarian failure 2A		6
HP:0003581	HP:0011462	Young adult onset	1	DIAPH3 CL E G H	81624	15480	OMIM:609129	Auditory neuropathy, autosomal dominant, 1		8
HP:0003581	HP:0011462	Young adult onset	1	DNAH17 CL E G H	8632	2946	OMIM:618643	SPERMATOGENIC FAILURE 39; SPGF39		37
HP:0003581	HP:0011462	Young adult onset	1	DNAJB6 CL E G H	10049	14888	OMIM:603511	Muscular dystrophy, limb-girdle, type 1E		103
HP:0003581	HP:0011462	Young adult onset	1	DNAJC3 CL E G H	5611	9439	OMIM:616192	Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus		3
HP:0003581	HP:0011462	Young adult onset	1	DNAJC30 CL E G H	84277	16410	OMIM:619382	LEBER HEREDITARY OPTIC NEUROPATHY, AUTOSOMAL RECESSIVE; LHONAR
HP:0003581	HP:0011462	Young adult onset	1	DNAJC5 CL E G H	80331	16235	OMIM:162350	Ceroid lipofuscinosis, neuronal, 4B, autosomal dominant		155
HP:0003581	HP:0011462	Young adult onset	1	DNHD1 CL E G H	144132	26532	OMIM:619712	SPERMATOGENIC FAILURE 65; SPGF65
HP:0003581	HP:0011462	Young adult onset	1	DPY19L2 CL E G H	283417	19414	OMIM:613958	Spermatogenic failure 9		17
HP:0003581	HP:0003596	Middle age onset	1	DRD5 CL E G H	1816	3026	OMIM:606798	Blepharospasm, benign essential, susceptibility to	.	3
HP:0003581	HP:0003596	Middle age onset	1	DSC2 CL E G H	1824	3036	OMIM:610476	Arrhythmogenic right ventricular dysplasia, familial, 11		268
HP:0003581	HP:0011462	Young adult onset	1	DSC2 CL E G H	1824	3036	OMIM:610476	Arrhythmogenic right ventricular dysplasia, familial, 11		268
HP:0003581	HP:0003584	Late onset	1	DSC2 CL E G H	1824	3036	OMIM:610476	Arrhythmogenic right ventricular dysplasia, familial, 11		268
HP:0003581	HP:0003596	Middle age onset	1	DSG2 CL E G H	1829	3049	OMIM:610193	Arrhythmogenic right ventricular dysplasia, familial, 10		358
HP:0003581	HP:0003584	Late onset	1	DSG2 CL E G H	1829	3049	OMIM:610193	Arrhythmogenic right ventricular dysplasia, familial, 10		358
HP:0003581	HP:0011462	Young adult onset	1	DSG2 CL E G H	1829	3049	OMIM:610193	Arrhythmogenic right ventricular dysplasia, familial, 10		358
HP:0003581	HP:0011462	Young adult onset	1	DSP CL E G H	1832	3052	OMIM:607450	Arrhythmogenic right ventricular dysplasia, familial, 8		747
HP:0003581	HP:0011462	Young adult onset	1	DTNA CL E G H	1837	3057	OMIM:604169	Left ventricular noncompaction 1		163
HP:0003581	HP:0011462	Young adult onset	1	DYSF CL E G H	8291	3097	OMIM:253601	Muscular dystrophy, limb-girdle, type 2B		600
HP:0003581	HP:0011462	Young adult onset	1	EIF2AK2 CL E G H	5610	9437	OMIM:619687	DYSTONIA 33; DYT33
HP:0003581	HP:0011462	Young adult onset	1	EIF2AK4 CL E G H	440275	19687	OMIM:234810	PULMONARY VENOOCCLUSIVE DISEASE 2, AUTOSOMAL RECESSIVE; PVOD2		40
HP:0003581	HP:0003596	Middle age onset	1	EIF2AK4 CL E G H	440275	19687	OMIM:234810	PULMONARY VENOOCCLUSIVE DISEASE 2, AUTOSOMAL RECESSIVE; PVOD2		40
HP:0003581	HP:0011462	Young adult onset	1	ELMOD3 CL E G H	84173	26158	OMIM:619500	DEAFNESS, AUTOSOMAL DOMINANT 81; DFNA81		1
HP:0003581	HP:0003584	Late onset	1	ELOVL4 CL E G H	6785	14415	OMIM:133190	Spinocerebellar ataxia 34		62
HP:0003581	HP:0011462	Young adult onset	1	ELOVL4 CL E G H	6785	14415	OMIM:133190	Spinocerebellar ataxia 34		62
HP:0003581	HP:0003596	Middle age onset	1	ELOVL4 CL E G H	6785	14415	OMIM:133190	Spinocerebellar ataxia 34		62
HP:0003581	HP:0011462	Young adult onset	1	ENG CL E G H	2022	3349	OMIM:187300	Telangiectasia, hereditary hemorrhagic, type 1		186
HP:0003581	HP:0003584	Late onset	1	ENPP1 CL E G H	5167	3356	OMIM:125853	Diabetes mellitus, noninsulin-dependent	.	151
HP:0003581	HP:0011462	Young adult onset	1	EPAS1 CL E G H	2034	3374	OMIM:611783	ERYTHROCYTOSIS, FAMILIAL, 4; ECYT4		112
HP:0003581	HP:0003596	Middle age onset	1	EPCAM CL E G H	4072	11529	OMIM:613244	Colorectal cancer, hereditary nonpolyposis, type 8		170
HP:0003581	HP:0003584	Late onset	1	EPCAM CL E G H	4072	11529	OMIM:613244	Colorectal cancer, hereditary nonpolyposis, type 8		170
HP:0003581	HP:0011462	Young adult onset	1	EPCAM CL E G H	4072	11529	OMIM:613244	Colorectal cancer, hereditary nonpolyposis, type 8		170
HP:0003581	HP:0003584	Late onset	1	ERBB4 CL E G H	2066	3432	OMIM:615515	Amyotrophic lateral sclerosis 19		15
HP:0003581	HP:0003596	Middle age onset	1	ERBB4 CL E G H	2066	3432	OMIM:615515	Amyotrophic lateral sclerosis 19		15
HP:0003581	HP:0011462	Young adult onset	1	ERCC6 CL E G H	2074	3438	OMIM:616946	PREMATURE OVARIAN FAILURE 11; POF11		199
HP:0003581	HP:0011462	Young adult onset	1	F5 CL E G H	2153	3542	OMIM:614389	Pregnancy loss, recurrent, susceptibility to, 1		159
HP:0003581	HP:0003584	Late onset	1	FBLN5 CL E G H	10516	3602	OMIM:608895	Macular degeneration, age-related, 3		63
HP:0003581	HP:0011462	Young adult onset	1	FBLN5 CL E G H	10516	3602	OMIM:608895	Macular degeneration, age-related, 3		63
HP:0003581	HP:0003596	Middle age onset	1	FBLN5 CL E G H	10516	3602	OMIM:608895	Macular degeneration, age-related, 3		63
HP:0003581	HP:0011462	Young adult onset	1	FBN1 CL E G H	2200	3603	OMIM:129600	ECTOPIA LENTIS 1, ISOLATED, AUTOSOMAL DOMINANT; ECTOL1		1361
HP:0003581	HP:0003596	Middle age onset	1	FBN1 CL E G H	2200	3603	OMIM:129600	ECTOPIA LENTIS 1, ISOLATED, AUTOSOMAL DOMINANT; ECTOL1		1361
HP:0003581	HP:0011462	Young adult onset	1	FBXO43 CL E G H	286151	28521	OMIM:619696	SPERMATOGENIC FAILURE 64; SPGF64
HP:0003581	HP:0011462	Young adult onset	1	FHL1 CL E G H	2273	3702	OMIM:300696	Myopathy, X-linked, with postural muscle atrophy		68
HP:0003581	HP:0011462	Young adult onset	1	FKBP6 CL E G H	8468	3722	OMIM:620103
HP:0003581	HP:0011462	Young adult onset	1	FKTN CL E G H	2218	3622	OMIM:611615	Cardiomyopathy, dilated, 1X		184
HP:0003581	HP:0003596	Middle age onset	1	FKTN CL E G H	2218	3622	OMIM:611615	Cardiomyopathy, dilated, 1X		184
HP:0003581	HP:0003584	Late onset	1	FLNC CL E G H	2318	3756	OMIM:617047	Cardiomyopathy, familial hypertrophic, 26		197
HP:0003581	HP:0011462	Young adult onset	1	FLNC CL E G H	2318	3756	OMIM:617047	Cardiomyopathy, familial hypertrophic, 26		197
HP:0003581	HP:0003596	Middle age onset	1	FLNC CL E G H	2318	3756	OMIM:617047	Cardiomyopathy, familial hypertrophic, 26		197
HP:0003581	HP:0011462	Young adult onset	1	FLNC CL E G H	2318	3756	OMIM:614065	Myopathy, distal, 4		197
HP:0003581	HP:0003584	Late onset	1	FMR1 CL E G H	2332	3775	OMIM:300623	Fragile X tremor/ataxia syndrome		30
HP:0003581	HP:0011462	Young adult onset	1	FN1 CL E G H	2335	3778	OMIM:601894	Glomerulopathy with fibronectin deposits 2		9
HP:0003581	HP:0011462	Young adult onset	1	FOXC1 CL E G H	2296	3800	OMIM:601631	Anterior segment dysgenesis 3		63
HP:0003581	HP:0011462	Young adult onset	1	FSHB CL E G H	2488	3964	OMIM:229070	Hypogonadotropic hypogonadism 24 without anosmia		23
HP:0003581	HP:0003596	Middle age onset	1	FTL CL E G H	2512	3999	OMIM:606159	Neurodegeneration with brain iron accumulation 3		33
HP:0003581	HP:0011462	Young adult onset	1	G6PD CL E G H	2539	4057	OMIM:300908	Anemia, nonspherocytic hemolytic, due to g6pd deficiency		101
HP:0003581	HP:0003596	Middle age onset	1	G6PD CL E G H	2539	4057	OMIM:300908	Anemia, nonspherocytic hemolytic, due to g6pd deficiency		101
HP:0003581	HP:0011462	Young adult onset	1	GAA CL E G H	2548	4065	OMIM:232300	Glycogen storage disease II		407
HP:0003581	HP:0011462	Young adult onset	1	GALC CL E G H	2581	4115	OMIM:245200	Krabbe disease		160
HP:0003581	HP:0011462	Young adult onset	1	GANAB CL E G H	23193	4138	OMIM:600666	Polycystic kidney disease 3		6
HP:0003581	HP:0003596	Middle age onset	1	GANAB CL E G H	23193	4138	OMIM:600666	Polycystic kidney disease 3		6
HP:0003581	HP:0003584	Late onset	1	GANAB CL E G H	23193	4138	OMIM:600666	Polycystic kidney disease 3		6
HP:0003581	HP:0011462	Young adult onset	1	GARS1 CL E G H	2617	4162	OMIM:601472	Charcot-Marie-Tooth disease, axonal, type 2D
HP:0003581	HP:0011462	Young adult onset	1	GARS1 CL E G H	2617	4162	OMIM:600794	Neuronopathy, distal hereditary motor, type VA
HP:0003581	HP:0003596	Middle age onset	1	GATAD1 CL E G H	57798	29941	OMIM:614672	Cardiomyopathy, dilated, 2B		35
HP:0003581	HP:0003584	Late onset	1	GBA1 CL E G H	2629	4177	OMIM:168600	Parkinson disease, late-onset
HP:0003581	HP:0003596	Middle age onset	1	GBE1 CL E G H	2632	4180	OMIM:263570	Polyglucosan body neuropathy, adult form		86
HP:0003581	HP:0003596	Middle age onset	1	GBF1 CL E G H	8729	4181	OMIM:606483	Charcot-Marie-Tooth disease, dominant intermediate A
HP:0003581	HP:0011462	Young adult onset	1	GBF1 CL E G H	8729	4181	OMIM:606483	Charcot-Marie-Tooth disease, dominant intermediate A
HP:0003581	HP:0003584	Late onset	1	GCK CL E G H	2645	4195	OMIM:125853	Diabetes mellitus, noninsulin-dependent	.	237
HP:0003581	HP:0011462	Young adult onset	1	GCK CL E G H	2645	4195	OMIM:602485	Hyperinsulinemic hypoglycemia, familial, 3		237
HP:0003581	HP:0011462	Young adult onset	1	GCNA CL E G H	93953	15805	OMIM:301077	SPERMATOGENIC FAILURE, X-LINKED, 4; SPGFX4
HP:0003581	HP:0011462	Young adult onset	1	GFAP CL E G H	2670	4235	OMIM:203450	Alexander disease		188
HP:0003581	HP:0011462	Young adult onset	1	GGCX CL E G H	2677	4247	OMIM:610842	PSEUDOXANTHOMA ELASTICUM-LIKE DISORDER WITH MULTIPLE COAGULATION FACTOR DEFICIENCY		129
HP:0003581	HP:0011462	Young adult onset	1	GGN CL E G H	199720	18869	OMIM:619826	SPERMATOGENIC FAILURE 69; SPGF69
HP:0003581	HP:0011462	Young adult onset	1	GIPC1 CL E G H	10755	1226	OMIM:618940	OCULOPHARYNGODISTAL MYOPATHY 2; OPDM2
HP:0003581	HP:0003596	Middle age onset	1	GJA5 CL E G H	2702	4279	OMIM:614049	Atrial fibrillation, familial, 11		39
HP:0003581	HP:0003584	Late onset	1	GLUD2 CL E G H	2747	4336	OMIM:168600	Parkinson disease, late-onset		1
HP:0003581	HP:0003584	Late onset	1	GPD2 CL E G H	2820	4456	OMIM:125853	Diabetes mellitus, noninsulin-dependent	.	3
HP:0003581	HP:0011462	Young adult onset	1	GPIHBP1 CL E G H	338328	24945	OMIM:615947	Hyperlipoproteinemia, type ID		12
HP:0003581	HP:0011462	Young adult onset	1	GRN CL E G H	2896	4601	OMIM:614706	Ceroid lipofuscinosis, neuronal, 11		126
HP:0003581	HP:0011462	Young adult onset	1	GYG1 CL E G H	2992	4699	OMIM:613507	Glycogen storage disease XV		18
HP:0003581	HP:0011462	Young adult onset	1	GYG1 CL E G H	2992	4699	OMIM:616199	Polyglucosan body myopathy 2		18
HP:0003581	HP:0003596	Middle age onset	1	GYG1 CL E G H	2992	4699	OMIM:616199	Polyglucosan body myopathy 2		18
HP:0003581	HP:0003584	Late onset	1	GYG1 CL E G H	2992	4699	OMIM:616199	Polyglucosan body myopathy 2		18
HP:0003581	HP:0003596	Middle age onset	1	H6PD CL E G H	9563	4795	OMIM:604931	Cortisone reductase deficiency 1		8
HP:0003581	HP:0011462	Young adult onset	1	H6PD CL E G H	9563	4795	OMIM:604931	Cortisone reductase deficiency 1		8
HP:0003581	HP:0011462	Young adult onset	1	HAMP CL E G H	57817	15598	OMIM:613313	Hemochromatosis, type 2B		15
HP:0003581	HP:0003596	Middle age onset	1	HAVCR2 CL E G H	84868	18437	OMIM:618398	T-CELL LYMPHOMA, SUBCUTANEOUS PANNICULITIS-LIKE
HP:0003581	HP:0011462	Young adult onset	1	HAVCR2 CL E G H	84868	18437	OMIM:618398	T-CELL LYMPHOMA, SUBCUTANEOUS PANNICULITIS-LIKE
HP:0003581	HP:0003584	Late onset	1	HAVCR2 CL E G H	84868	18437	OMIM:618398	T-CELL LYMPHOMA, SUBCUTANEOUS PANNICULITIS-LIKE
HP:0003581	HP:0011462	Young adult onset	1	HCN4 CL E G H	10021	16882	OMIM:163800	Sick sinus syndrome 2		185
HP:0003581	HP:0011462	Young adult onset	1	HFE CL E G H	3077	4886	OMIM:176200	Porphyria variegata		38
HP:0003581	HP:0011462	Young adult onset	1	HINT1 CL E G H	3094	4912	OMIM:137200	Neuromyotonia and axonal neuropathy, autosomal recessive		12
HP:0003581	HP:0011462	Young adult onset	1	HJV CL E G H	148738	4887	OMIM:602390	Hemochromatosis, type 2A
HP:0003581	HP:0011462	Young adult onset	1	HK1 CL E G H	3098	4922	OMIM:617460	Retinitis pigmentosa 79		11
HP:0003581	HP:0003596	Middle age onset	1	HKDC1 CL E G H	80201	23302	OMIM:619614	RETINITIS PIGMENTOSA 92; RP92		2
HP:0003581	HP:0011462	Young adult onset	1	HKDC1 CL E G H	80201	23302	OMIM:619614	RETINITIS PIGMENTOSA 92; RP92		2
HP:0003581	HP:0003596	Middle age onset	1	HLA-DQB1 CL E G H	3119	4944	OMIM:123400	Creutzfeldt-Jakob disease
HP:0003581	HP:0003584	Late onset	1	HMCN1 CL E G H	83872	19194	OMIM:603075	Macular degeneration, age-related, 1		262
HP:0003581	HP:0003584	Late onset	1	HMGA1 CL E G H	3159	5010	OMIM:125853	Diabetes mellitus, noninsulin-dependent	.	1
HP:0003581	HP:0003584	Late onset	1	HNF1A CL E G H	6927	11621	OMIM:125853	Diabetes mellitus, noninsulin-dependent	.	161
HP:0003581	HP:0003584	Late onset	1	HNF1B CL E G H	6928	11630	OMIM:125853	Diabetes mellitus, noninsulin-dependent	.	90
HP:0003581	HP:0003584	Late onset	1	HNF4A CL E G H	3172	5024	OMIM:125853	Diabetes mellitus, noninsulin-dependent	.	138
HP:0003581	HP:0003596	Middle age onset	1	HNRNPA1 CL E G H	3178	5031	OMIM:615424	Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 3		31
HP:0003581	HP:0011462	Young adult onset	1	HNRNPA1 CL E G H	3178	5031	OMIM:615424	Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 3		31
HP:0003581	HP:0011462	Young adult onset	1	HPRT1 CL E G H	3251	5157	OMIM:300322	Lesch-Nyhan syndrome		76
HP:0003581	HP:0011462	Young adult onset	1	HSFY1 CL E G H	86614	18568	OMIM:415000	SPERMATOGENIC FAILURE, NONOBSTRUCTIVE, Y-LINKED		1
HP:0003581	HP:0011462	Young adult onset	1	HSPB3 CL E G H	8988	5248	OMIM:613376	Neuronopathy, distal hereditary motor, type IIC		13
HP:0003581	HP:0011462	Young adult onset	1	HSPB8 CL E G H	26353	30171	OMIM:608673	Charcot-Marie-Tooth disease, axonal, type 2L		38
HP:0003581	HP:0011462	Young adult onset	1	HTRA1 CL E G H	5654	9476	OMIM:600142	Autosomal recessive cerebral arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL)		34
HP:0003581	HP:0003596	Middle age onset	1	HTRA1 CL E G H	5654	9476	OMIM:600142	Autosomal recessive cerebral arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL)		34
HP:0003581	HP:0003596	Middle age onset	1	HTRA1 CL E G H	5654	9476	OMIM:616779	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2		34
HP:0003581	HP:0003584	Late onset	1	HTRA1 CL E G H	5654	9476	OMIM:616779	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2		34
HP:0003581	HP:0011462	Young adult onset	1	ICOS CL E G H	29851	5351	OMIM:607594	Immunodeficiency, common variable, 1		32
HP:0003581	HP:0011462	Young adult onset	1	IDS CL E G H	3423	5389	OMIM:309900	Mucopolysaccharidosis, type II		86
HP:0003581	HP:0011462	Young adult onset	1	IFIH1 CL E G H	64135	18873	OMIM:182250	Singleton-Merten syndrome 1		28
HP:0003581	HP:0011462	Young adult onset	1	IFT140 CL E G H	9742	29077	OMIM:617781	Retinitis pigmentosa 80		148
HP:0003581	HP:0011462	Young adult onset	1	IFT74 CL E G H	80173	21424	OMIM:619585	SPERMATOGENIC FAILURE 58; SPGF58		3
HP:0003581	HP:0003584	Late onset	1	IGF2BP2 CL E G H	10644	28867	OMIM:125853	Diabetes mellitus, noninsulin-dependent	.	1
HP:0003581	HP:0003596	Middle age onset	1	IKZF1 CL E G H	10320	13176	OMIM:616873	IMMUNODEFICIENCY, COMMON VARIABLE, 13; CVID13		8
HP:0003581	HP:0011462	Young adult onset	1	IKZF1 CL E G H	10320	13176	OMIM:616873	IMMUNODEFICIENCY, COMMON VARIABLE, 13; CVID13		8
HP:0003581	HP:0011462	Young adult onset	1	IL36RN CL E G H	26525	15561	OMIM:614204	PSORIASIS 14, PUSTULAR; PSORS14		51
HP:0003581	HP:0003584	Late onset	1	IL6 CL E G H	3569	6018	OMIM:125853	Diabetes mellitus, noninsulin-dependent	.	2
HP:0003581	HP:0011462	Young adult onset	1	IMPG2 CL E G H	50939	18362	OMIM:616152	Macular dystrophy, vitelliform, 5		120
HP:0003581	HP:0003584	Late onset	1	IMPG2 CL E G H	50939	18362	OMIM:616152	Macular dystrophy, vitelliform, 5		120
HP:0003581	HP:0003596	Middle age onset	1	IMPG2 CL E G H	50939	18362	OMIM:616152	Macular dystrophy, vitelliform, 5		120
HP:0003581	HP:0011462	Young adult onset	1	INSR CL E G H	3643	6091	OMIM:609968	Hyperinsulinemic hypoglycemia, familial, 5		229
HP:0003581	HP:0003584	Late onset	1	IRS1 CL E G H	3667	6125	OMIM:125853	Diabetes mellitus, noninsulin-dependent	.	5
HP:0003581	HP:0003584	Late onset	1	IRS2 CL E G H	8660	6126	OMIM:125853	Diabetes mellitus, noninsulin-dependent	.	3
HP:0003581	HP:0003596	Middle age onset	1	ITM2B CL E G H	9445	6174	OMIM:616079	Retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities		3
HP:0003581	HP:0011462	Young adult onset	1	ITM2B CL E G H	9445	6174	OMIM:616079	Retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities		3
HP:0003581	HP:0011462	Young adult onset	1	JAG2 CL E G H	3714	6189	OMIM:619566	MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 27; LGMDR27		1
HP:0003581	HP:0003584	Late onset	1	JAK2 CL E G H	3717	6192	OMIM:263300	Polycythemia vera		57
HP:0003581	HP:0011462	Young adult onset	1	JAK2 CL E G H	3717	6192	OMIM:263300	Polycythemia vera		57
HP:0003581	HP:0003596	Middle age onset	1	JAK2 CL E G H	3717	6192	OMIM:263300	Polycythemia vera		57
HP:0003581	HP:0011462	Young adult onset	1	JPH2 CL E G H	57158	14202	OMIM:613873	Cardiomyopathy, familial hypertrophic, 17		111
HP:0003581	HP:0011462	Young adult onset	1	KCNA5 CL E G H	3741	6224	OMIM:612240	Atrial fibrillation, familial, 7		38
HP:0003581	HP:0003596	Middle age onset	1	KCNA5 CL E G H	3741	6224	OMIM:612240	Atrial fibrillation, familial, 7		38
HP:0003581	HP:0003596	Middle age onset	1	KCNC3 CL E G H	3748	6235	OMIM:605259	Spinocerebellar ataxia 13		17
HP:0003581	HP:0011462	Young adult onset	1	KCNC3 CL E G H	3748	6235	OMIM:605259	Spinocerebellar ataxia 13		17
HP:0003581	HP:0003596	Middle age onset	1	KCND3 CL E G H	3752	6239	OMIM:616399	Brugada syndrome 9		35
HP:0003581	HP:0011462	Young adult onset	1	KCND3 CL E G H	3752	6239	OMIM:616399	Brugada syndrome 9		35
HP:0003581	HP:0011462	Young adult onset	1	KCNE1 CL E G H	3753	6240	OMIM:613695	Long QT syndrome 5		148
HP:0003581	HP:0003584	Late onset	1	KCNE2 CL E G H	9992	6242	OMIM:611493	ATRIAL FIBRILLATION, FAMILIAL, 4; ATFB4		43
HP:0003581	HP:0003596	Middle age onset	1	KCNE2 CL E G H	9992	6242	OMIM:611493	ATRIAL FIBRILLATION, FAMILIAL, 4; ATFB4		43
HP:0003581	HP:0011462	Young adult onset	1	KCNH2 CL E G H	3757	6251	OMIM:613688	Long QT syndrome 2		901
HP:0003581	HP:0003584	Late onset	1	KCNJ11 CL E G H	3767	6257	OMIM:125853	Diabetes mellitus, noninsulin-dependent	.	127
HP:0003581	HP:0011462	Young adult onset	1	KCNJ18 CL E G H	100134444	39080	OMIM:613239	Thyrotoxic periodic paralysis, susceptibility to, 2		10
HP:0003581	HP:0003596	Middle age onset	1	KCNJ18 CL E G H	100134444	39080	OMIM:613239	Thyrotoxic periodic paralysis, susceptibility to, 2		10
HP:0003581	HP:0011462	Young adult onset	1	KCNJ2 CL E G H	3759	6263	OMIM:170390	Andersen cardiodysrhythmic periodic paralysis		193
HP:0003581	HP:0003596	Middle age onset	1	KCNJ2 CL E G H	3759	6263	OMIM:613980	Atrial fibrillation, familial, 9		193
HP:0003581	HP:0011462	Young adult onset	1	KCNJ5 CL E G H	3762	6266	OMIM:613485	Long QT syndrome 13		128
HP:0003581	HP:0003596	Middle age onset	1	KCNK3 CL E G H	3777	6278	OMIM:615344	Pulmonary hypertension, primary, 4		7
HP:0003581	HP:0011462	Young adult onset	1	KCNK3 CL E G H	3777	6278	OMIM:615344	Pulmonary hypertension, primary, 4		7
HP:0003581	HP:0011462	Young adult onset	1	KCNQ1 CL E G H	3784	6294	OMIM:607554	Atrial fibrillation, familial, 3		730
HP:0003581	HP:0003596	Middle age onset	1	KCNQ1 CL E G H	3784	6294	OMIM:607554	Atrial fibrillation, familial, 3		730
HP:0003581	HP:0011462	Young adult onset	1	KCTD17 CL E G H	79734	25705	OMIM:616398	Dystonia 26, myoclonic		1
HP:0003581	HP:0011462	Young adult onset	1	KDM5D CL E G H	8284	11115	OMIM:415000	SPERMATOGENIC FAILURE, NONOBSTRUCTIVE, Y-LINKED
HP:0003581	HP:0003596	Middle age onset	1	KIF1B CL E G H	23095	16636	OMIM:118210	Charcot-Marie-Tooth disease, axonal, type 2A1		202
HP:0003581	HP:0003596	Middle age onset	1	KIF5A CL E G H	3798	6323	OMIM:617921	Amyotrophic lateral sclerosis, susceptibility to, 25		93
HP:0003581	HP:0011462	Young adult onset	1	KIF5A CL E G H	3798	6323	OMIM:617921	Amyotrophic lateral sclerosis, susceptibility to, 25		93
HP:0003581	HP:0003584	Late onset	1	KLKB1 CL E G H	3818	6371	OMIM:612423	PREKALLIKREIN DEFICIENCY		8
HP:0003581	HP:0011462	Young adult onset	1	KNG1 CL E G H	3827	6383	OMIM:619363	ANGIOEDEMA, HEREDITARY, 6; HAE6		7
HP:0003581	HP:0003596	Middle age onset	1	KNG1 CL E G H	3827	6383	OMIM:619363	ANGIOEDEMA, HEREDITARY, 6; HAE6		7
HP:0003581	HP:0003584	Late onset	1	KRT18 CL E G H	3875	6430	OMIM:215600	Cirrhosis, familial		19
HP:0003581	HP:0003584	Late onset	1	LAMA4 CL E G H	3910	6484	OMIM:615235	Cardiomyopathy, dilated, 1jj		279
HP:0003581	HP:0003596	Middle age onset	1	LAMA4 CL E G H	3910	6484	OMIM:615235	Cardiomyopathy, dilated, 1jj		279
HP:0003581	HP:0011462	Young adult onset	1	LAMA4 CL E G H	3910	6484	OMIM:615235	Cardiomyopathy, dilated, 1jj		279
HP:0003581	HP:0003584	Late onset	1	LDB3 CL E G H	11155	15710	OMIM:609452	Myopathy, myofibrillar, 4	.	286
HP:0003581	HP:0011462	Young adult onset	1	LGI1 CL E G H	9211	6572	OMIM:600512	EPILEPSY, FAMILIAL TEMPORAL LOBE, 1; ETL1		75
HP:0003581	HP:0003596	Middle age onset	1	LGI1 CL E G H	9211	6572	OMIM:600512	EPILEPSY, FAMILIAL TEMPORAL LOBE, 1; ETL1		75
HP:0003581	HP:0011462	Young adult onset	1	LHB CL E G H	3972	6584	OMIM:228300	Hypogonadotropic hypogonadism 23 without anosmia		9
HP:0003581	HP:0011462	Young adult onset	1	LIG3 CL E G H	3980	6600	OMIM:619780	MITOCHONDRIAL DNA DEPLETION SYNDROME 20 (MNGIE TYPE); MTDPS20		1
HP:0003581	HP:0003584	Late onset	1	LIPC CL E G H	3990	6619	OMIM:125853	Diabetes mellitus, noninsulin-dependent	.	35
HP:0003581	HP:0011462	Young adult onset	1	LIPE CL E G H	3991	6621	OMIM:615980	Lipodystrophy, familial partial, type 6		7
HP:0003581	HP:0003596	Middle age onset	1	LITAF CL E G H	9516	16841	OMIM:601098	Charcot-Marie-Tooth disease, demyelinating, type 1C		74
HP:0003581	HP:0011462	Young adult onset	1	LMF1 CL E G H	64788	14154	OMIM:246650	LIPASE DEFICIENCY, COMBINED		3
HP:0003581	HP:0003596	Middle age onset	1	LMNA CL E G H	4000	6636	OMIM:115200	Cardiomyopathy, dilated, 1A		645
HP:0003581	HP:0011462	Young adult onset	1	LMNA CL E G H	4000	6636	OMIM:115200	Cardiomyopathy, dilated, 1A		645
HP:0003581	HP:0011462	Young adult onset	1	LMNA CL E G H	4000	6636	OMIM:181350	Emery-Dreifuss muscular dystrophy 2, autosomal dominant		645
HP:0003581	HP:0011462	Young adult onset	1	LMNA CL E G H	4000	6636	OMIM:151660	Lipodystrophy, familial partial, type 2		645
HP:0003581	HP:0003596	Middle age onset	1	LMX1B CL E G H	4010	6654	OMIM:256020	NAIL-PATELLA-LIKE RENAL DISEASE		165
HP:0003581	HP:0011462	Young adult onset	1	LMX1B CL E G H	4010	6654	OMIM:256020	NAIL-PATELLA-LIKE RENAL DISEASE		165
HP:0003581	HP:0003584	Late onset	1	LMX1B CL E G H	4010	6654	OMIM:256020	NAIL-PATELLA-LIKE RENAL DISEASE		165
HP:0003581	HP:0003596	Middle age onset	1	LRIF1 CL E G H	55791	30299	OMIM:619477	FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 3, DIGENIC; FSHD3
HP:0003581	HP:0011462	Young adult onset	1	LRP12 CL E G H	29967	31708	OMIM:164310	Oculopharyngodistal myopathy 1
HP:0003581	HP:0003596	Middle age onset	1	LRP12 CL E G H	29967	31708	OMIM:164310	Oculopharyngodistal myopathy 1
HP:0003581	HP:0003584	Late onset	1	LRRK2 CL E G H	120892	18618	OMIM:607060	Parkinson disease 8, autosomal dominant		221
HP:0003581	HP:0011462	Young adult onset	1	LYST CL E G H	1130	1968	OMIM:214500	Chediak-Higashi syndrome		239
HP:0003581	HP:0003584	Late onset	1	MAFA CL E G H	389692	23145	OMIM:147630	Insulinomatosis and diabetes mellitus
HP:0003581	HP:0003596	Middle age onset	1	MAFA CL E G H	389692	23145	OMIM:147630	Insulinomatosis and diabetes mellitus
HP:0003581	HP:0011462	Young adult onset	1	MAFA CL E G H	389692	23145	OMIM:147630	Insulinomatosis and diabetes mellitus
HP:0003581	HP:0011462	Young adult onset	1	MAFB CL E G H	9935	6408	OMIM:166300	Multicentric carpotarsal osteolysis syndrome		63
HP:0003581	HP:0011462	Young adult onset	1	MAGT1 CL E G H	84061	28880	OMIM:300853	IMMUNODEFICIENCY, X-LINKED, WITH MAGNESIUM DEFECT, EPSTEIN-BARR VIRUS INFECTION, AND NEOPLASIA; XMEN		17
HP:0003581	HP:0003596	Middle age onset	1	MAK CL E G H	4117	6816	OMIM:614181	Retinitis pigmentosa 62		53
HP:0003581	HP:0011462	Young adult onset	1	MAK CL E G H	4117	6816	OMIM:614181	Retinitis pigmentosa 62		53
HP:0003581	HP:0011462	Young adult onset	1	MAP1B CL E G H	4131	6836	OMIM:619808	DEAFNESS, AUTOSOMAL DOMINANT 83; DFNA83
HP:0003581	HP:0003596	Middle age onset	1	MAP1B CL E G H	4131	6836	OMIM:619808	DEAFNESS, AUTOSOMAL DOMINANT 83; DFNA83
HP:0003581	HP:0003584	Late onset	1	MAPK8IP1 CL E G H	9479	6882	OMIM:125853	Diabetes mellitus, noninsulin-dependent	.	1
HP:0003581	HP:0011462	Young adult onset	1	MAPT CL E G H	4137	6893	OMIM:600274	Frontotemporal dementia		140
HP:0003581	HP:0003596	Middle age onset	1	MAPT CL E G H	4137	6893	OMIM:600274	Frontotemporal dementia		140
HP:0003581	HP:0003584	Late onset	1	MAPT CL E G H	4137	6893	OMIM:168600	Parkinson disease, late-onset		140
HP:0003581	HP:0011462	Young adult onset	1	MAPT CL E G H	4137	6893	OMIM:260540	Supranuclear palsy, progressive atypical	.	140
HP:0003581	HP:0003584	Late onset	1	MAPT CL E G H	4137	6893	OMIM:601104	Supranuclear palsy, progressive, 1		140
HP:0003581	HP:0003584	Late onset	1	MARS1 CL E G H	4141	6898	OMIM:616280	Charcot-Marie-Tooth disease, axonal, type 2U
HP:0003581	HP:0003596	Middle age onset	1	MARS1 CL E G H	4141	6898	OMIM:616280	Charcot-Marie-Tooth disease, axonal, type 2U
HP:0003581	HP:0003596	Middle age onset	1	MARS2 CL E G H	92935	25133	OMIM:611390	Spastic ataxia 3, autosomal recessive		25
HP:0003581	HP:0011462	Young adult onset	1	MARS2 CL E G H	92935	25133	OMIM:611390	Spastic ataxia 3, autosomal recessive		25
HP:0003581	HP:0011462	Young adult onset	1	MATR3 CL E G H	9782	6912	OMIM:606070	Amyotrophic lateral sclerosis 21		80
HP:0003581	HP:0003596	Middle age onset	1	MATR3 CL E G H	9782	6912	OMIM:606070	Amyotrophic lateral sclerosis 21		80
HP:0003581	HP:0011462	Young adult onset	1	MBD4 CL E G H	8930	6919	OMIM:619975			1
HP:0003581	HP:0003596	Middle age onset	1	MBD4 CL E G H	8930	6919	OMIM:619975			1
HP:0003581	HP:0011462	Young adult onset	1	MCM6 CL E G H	4175	6949	OMIM:223100	LACTOSE INTOLERANCE, ADULT TYPE		5
HP:0003581	HP:0011462	Young adult onset	1	MEFV CL E G H	4210	6998	OMIM:249100	Familial Mediterranean fever, AR		281
HP:0003581	HP:0011462	Young adult onset	1	MEI1 CL E G H	150365	28613	OMIM:618431	Hydatidiform mole, recurrent, 3
HP:0003581	HP:0011462	Young adult onset	1	MEIOB CL E G H	254528	28569	OMIM:617706	Spermatogenic failure 22
HP:0003581	HP:0011462	Young adult onset	1	MGME1 CL E G H	92667	16205	OMIM:615084	Mitochondrial DNA depletion syndrome 11		11
HP:0003581	HP:0011462	Young adult onset	1	MICAL1 CL E G H	64780	20619	OMIM:600512	EPILEPSY, FAMILIAL TEMPORAL LOBE, 1; ETL1
HP:0003581	HP:0003596	Middle age onset	1	MICAL1 CL E G H	64780	20619	OMIM:600512	EPILEPSY, FAMILIAL TEMPORAL LOBE, 1; ETL1
HP:0003581	HP:0003596	Middle age onset	1	MLH1 CL E G H	4292	7127	OMIM:158320	Muir-Torre syndrome		1819
HP:0003581	HP:0003584	Late onset	1	MME CL E G H	4311	7154	OMIM:617018	SPINOCEREBELLAR ATAXIA 43; SCA43		18
HP:0003581	HP:0003596	Middle age onset	1	MME CL E G H	4311	7154	OMIM:617018	SPINOCEREBELLAR ATAXIA 43; SCA43		18
HP:0003581	HP:0003596	Middle age onset	1	MOCOS CL E G H	55034	18234	OMIM:603592	Xanthinuria, type II		4
HP:0003581	HP:0011462	Young adult onset	1	MORC2 CL E G H	22880	23573	OMIM:616688	Charcot-Marie-Tooth disease, axonal, type 2Z		8
HP:0003581	HP:0011462	Young adult onset	1	MOV10L1 CL E G H	54456	7201	OMIM:619878
HP:0003581	HP:0003596	Middle age onset	1	MPZ CL E G H	4359	7225	OMIM:607736	Charcot-Marie-Tooth disease, type 2J		134
HP:0003581	HP:0003596	Middle age onset	1	MSH2 CL E G H	4436	7325	OMIM:158320	Muir-Torre syndrome		2162
HP:0003581	HP:0003596	Middle age onset	1	MSH3 CL E G H	4437	7326	OMIM:617100	Familial adenomatous polyposis 4		5
HP:0003581	HP:0011462	Young adult onset	1	MSH3 CL E G H	4437	7326	OMIM:617100	Familial adenomatous polyposis 4		5
HP:0003581	HP:0011462	Young adult onset	1	MSH4 CL E G H	4438	7327	OMIM:619938
HP:0003581	HP:0011462	Young adult onset	1	MSH4 CL E G H	4438	7327	OMIM:108420	Spermatogenic failure 2
HP:0003581	HP:0011462	Young adult onset	1	MSH5 CL E G H	4439	7328	OMIM:619937			5
HP:0003581	HP:0003584	Late onset	1	MTNR1B CL E G H	4544	7464	OMIM:125853	Diabetes mellitus, noninsulin-dependent	.	4
HP:0003581	HP:0011462	Young adult onset	1	MYBPC3 CL E G H	4607	7551	OMIM:615396	Left ventricular noncompaction 10		1143
HP:0003581	HP:0003584	Late onset	1	MYBPC3 CL E G H	4607	7551	OMIM:615396	Left ventricular noncompaction 10		1143
HP:0003581	HP:0003596	Middle age onset	1	MYH6 CL E G H	4624	7576	OMIM:613252	Cardiomyopathy, dilated, 1ee		452
HP:0003581	HP:0003584	Late onset	1	MYH6 CL E G H	4624	7576	OMIM:613251	Cardiomyopathy, familial hypertrophic, 14		452
HP:0003581	HP:0011462	Young adult onset	1	MYH6 CL E G H	4624	7576	OMIM:613251	Cardiomyopathy, familial hypertrophic, 14		452
HP:0003581	HP:0011462	Young adult onset	1	MYH7 CL E G H	4625	7577	OMIM:255160	Myopathy, myosin storage, autosomal recessive		1269
HP:0003581	HP:0011462	Young adult onset	1	MYL4 CL E G H	4635	7585	OMIM:617280	Atrial fibrillation, familial, 18		2
HP:0003581	HP:0003596	Middle age onset	1	MYORG CL E G H	57462	19918	OMIM:618317	Basal ganglia calcification, idiopathic, 7, autosomal recessive
HP:0003581	HP:0011462	Young adult onset	1	MYOT CL E G H	9499	12399	OMIM:182920	Myopathy, spheroid body		75
HP:0003581	HP:0003596	Middle age onset	1	MYPN CL E G H	84665	23246	OMIM:615248	Cardiomyopathy, dilated, 1kk		217
HP:0003581	HP:0003584	Late onset	1	MYPN CL E G H	84665	23246	OMIM:615248	Cardiomyopathy, dilated, 1kk		217
HP:0003581	HP:0011462	Young adult onset	1	MYPN CL E G H	84665	23246	OMIM:615248	Cardiomyopathy, dilated, 1kk		217
HP:0003581	HP:0003596	Middle age onset	1	MYPN CL E G H	84665	23246	OMIM:617336	Nemaline myopathy 11, autosomal recessive		217
HP:0003581	HP:0003584	Late onset	1	NEK1 CL E G H	4750	7744	OMIM:617892	Amyotrophic lateral sclerosis, susceptibility to, 24		101
HP:0003581	HP:0003596	Middle age onset	1	NEK1 CL E G H	4750	7744	OMIM:617892	Amyotrophic lateral sclerosis, susceptibility to, 24		101
HP:0003581	HP:0003584	Late onset	1	NEUROD1 CL E G H	4760	7762	OMIM:125853	Diabetes mellitus, noninsulin-dependent	.	32
HP:0003581	HP:0003584	Late onset	1	NEXN CL E G H	91624	29557	OMIM:613122	Cardiomyopathy, dilated, 1cc		167
HP:0003581	HP:0003596	Middle age onset	1	NEXN CL E G H	91624	29557	OMIM:613122	Cardiomyopathy, dilated, 1cc		167
HP:0003581	HP:0011462	Young adult onset	1	NEXN CL E G H	91624	29557	OMIM:613122	Cardiomyopathy, dilated, 1cc		167
HP:0003581	HP:0011462	Young adult onset	1	NF1 CL E G H	4763	7765	OMIM:162210	Neurofibromatosis, familial spinal		1952
HP:0003581	HP:0003596	Middle age onset	1	NF1 CL E G H	4763	7765	OMIM:162210	Neurofibromatosis, familial spinal		1952
HP:0003581	HP:0011462	Young adult onset	1	NF2 CL E G H	4771	7773	OMIM:101000	Neurofibromatosis, type II		220
HP:0003581	HP:0011462	Young adult onset	1	NLRP3 CL E G H	114548	16400	OMIM:617772	Deafness, autosomal dominant 34, with or without inflammation		217
HP:0003581	HP:0011462	Young adult onset	1	NLRP3 CL E G H	114548	16400	OMIM:148200	Keratoendotheliitis fugax hereditaria		217
HP:0003581	HP:0011462	Young adult onset	1	NLRP7 CL E G H	199713	22947	OMIM:231090	Hydatidiform mole, recurrent, 1		171
HP:0003581	HP:0003596	Middle age onset	1	NOTCH2NLC CL E G H	100996717	53924	OMIM:619473	OCULOPHARYNGODISTAL MYOPATHY 3; OPDM3
HP:0003581	HP:0011462	Young adult onset	1	NOTCH2NLC CL E G H	100996717	53924	OMIM:619473	OCULOPHARYNGODISTAL MYOPATHY 3; OPDM3
HP:0003581	HP:0003596	Middle age onset	1	NOTCH3 CL E G H	4854	7883	OMIM:125310	Cerebral arteriopathy, autosomal dominant, with subcortical infarctsand leukoencephalopathy		144
HP:0003581	HP:0011462	Young adult onset	1	NOTCH3 CL E G H	4854	7883	OMIM:125310	Cerebral arteriopathy, autosomal dominant, with subcortical infarctsand leukoencephalopathy		144
HP:0003581	HP:0011462	Young adult onset	1	NPC1 CL E G H	4864	7897	OMIM:257220	Niemann-pick disease, type C1		258
HP:0003581	HP:0011462	Young adult onset	1	NPHP1 CL E G H	4867	7905	OMIM:266900	Senior-Loken syndrome 1		85
HP:0003581	HP:0003596	Middle age onset	1	NPPA CL E G H	4878	7939	OMIM:612201	Atrial fibrillation, familial, 6		13
HP:0003581	HP:0011462	Young adult onset	1	NPPA CL E G H	4878	7939	OMIM:612201	Atrial fibrillation, familial, 6		13
HP:0003581	HP:0011462	Young adult onset	1	NR0B1 CL E G H	190	7960	OMIM:300200	Adrenal hypoplasia, congenital		48
HP:0003581	HP:0003584	Late onset	1	NR4A2 CL E G H	4929	7981	OMIM:168600	Parkinson disease, late-onset		27
HP:0003581	HP:0011462	Young adult onset	1	NRCAM CL E G H	4897	7994	OMIM:619833			2
HP:0003581	HP:0003596	Middle age onset	1	OPTN CL E G H	10133	17142	OMIM:613435	Amyotrophic lateral sclerosis 12		62
HP:0003581	HP:0011462	Young adult onset	1	OPTN CL E G H	10133	17142	OMIM:613435	Amyotrophic lateral sclerosis 12		62
HP:0003581	HP:0003584	Late onset	1	OPTN CL E G H	10133	17142	OMIM:613435	Amyotrophic lateral sclerosis 12		62
HP:0003581	HP:0003584	Late onset	1	PABPN1 CL E G H	8106	8565	OMIM:164300	Oculopharyngeal muscular dystrophy		10
HP:0003581	HP:0011462	Young adult onset	1	PATL2 CL E G H	197135	33630	OMIM:617743	Oocyte maturation defect 4
HP:0003581	HP:0003584	Late onset	1	PAX4 CL E G H	5078	8618	OMIM:125853	Diabetes mellitus, noninsulin-dependent	.	55
HP:0003581	HP:0011462	Young adult onset	1	PDE11A CL E G H	50940	8773	OMIM:610475	Pigmented nodular adrenocortical disease, primary, 2		13
HP:0003581	HP:0003596	Middle age onset	1	PDGFRB CL E G H	5159	8804	OMIM:615007	Basal ganglia calcification, idiopathic, 4		28
HP:0003581	HP:0003584	Late onset	1	PDGFRB CL E G H	5159	8804	OMIM:615007	Basal ganglia calcification, idiopathic, 4		28
HP:0003581	HP:0011462	Young adult onset	1	PDGFRB CL E G H	5159	8804	OMIM:615007	Basal ganglia calcification, idiopathic, 4		28
HP:0003581	HP:0011462	Young adult onset	1	PDHA2 CL E G H	5161	8807	OMIM:619828	SPERMATOGENIC FAILURE 70; SPGF70
HP:0003581	HP:0003584	Late onset	1	PDX1 CL E G H	3651	6107	OMIM:125853	Diabetes mellitus, noninsulin-dependent	.	30
HP:0003581	HP:0003596	Middle age onset	1	PHKA1 CL E G H	5255	8925	OMIM:300559	Muscle glycogenosis, X-linked		54
HP:0003581	HP:0011462	Young adult onset	1	PIK3R5 CL E G H	23533	30035	OMIM:615217	Ataxia-Oculomotor apraxia 3		11
HP:0003581	HP:0011462	Young adult onset	1	PKD2 CL E G H	5311	9009	OMIM:613095	Polycystic kidney disease 2		106
HP:0003581	HP:0003596	Middle age onset	1	PKD2 CL E G H	5311	9009	OMIM:613095	Polycystic kidney disease 2		106
HP:0003581	HP:0003596	Middle age onset	1	PKHD1 CL E G H	5314	9016	OMIM:263200	Polycystic kidney disease 4 with or without polycystic liver disease		563
HP:0003581	HP:0011462	Young adult onset	1	PKHD1 CL E G H	5314	9016	OMIM:263200	Polycystic kidney disease 4 with or without polycystic liver disease		563
HP:0003581	HP:0011462	Young adult onset	1	PKP2 CL E G H	5318	9024	OMIM:609040	Arrhythmogenic right ventricular dysplasia, familial, 9		406
HP:0003581	HP:0011462	Young adult onset	1	PLA2G6 CL E G H	8398	9039	OMIM:612953	Parkinson disease 14, autosomal recessive		133
HP:0003581	HP:0003596	Middle age onset	1	PLEKHG5 CL E G H	57449	29105	OMIM:615376	Charcot-Marie-Tooth disease, recessive intermediate C		186
HP:0003581	HP:0011462	Young adult onset	1	PLG CL E G H	5340	9071	OMIM:619360	ANGIOEDEMA, HEREDITARY, 4; HAE4		11
HP:0003581	HP:0011462	Young adult onset	1	PLIN1 CL E G H	5346	9076	OMIM:613877	Lipodystrophy, familial partial, type 4		19
HP:0003581	HP:0011462	Young adult onset	1	PLN CL E G H	5350	9080	OMIM:609909	Cardiomyopathy, dilated, 1P		57
HP:0003581	HP:0003596	Middle age onset	1	PLN CL E G H	5350	9080	OMIM:613874	Cardiomyopathy, familial hypertrophic, 18		57
HP:0003581	HP:0011462	Young adult onset	1	PMP2 CL E G H	5375	9117	OMIM:618279	Charcot-Marie-Tooth disease, demyelinating, type 1G		1
HP:0003581	HP:0011462	Young adult onset	1	PMP22 CL E G H	5376	9118	OMIM:162500	Neuropathy, hereditary, with liability to pressure palsies		79
HP:0003581	HP:0011462	Young adult onset	1	PMVK CL E G H	10654	9141	OMIM:175800	Porokeratosis 1, multiple types		3
HP:0003581	HP:0011462	Young adult onset	1	PNLDC1 CL E G H	154197	21185	OMIM:619528	SPERMATOGENIC FAILURE 57; SPGF57
HP:0003581	HP:0011462	Young adult onset	1	POF1B CL E G H	79983	13711	OMIM:300604	Premature ovarian failure 2B		31
HP:0003581	HP:0003596	Middle age onset	1	POLG CL E G H	5428	9179	OMIM:157640	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1		464
HP:0003581	HP:0011462	Young adult onset	1	POLG CL E G H	5428	9179	OMIM:157640	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1		464
HP:0003581	HP:0011462	Young adult onset	1	POLG CL E G H	5428	9179	OMIM:258450	Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal recessive		464
HP:0003581	HP:0003596	Middle age onset	1	POLG CL E G H	5428	9179	OMIM:258450	Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal recessive		464
HP:0003581	HP:0011462	Young adult onset	1	POLG CL E G H	5428	9179	OMIM:607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis		464
HP:0003581	HP:0003596	Middle age onset	1	POLRMT CL E G H	5442	9200	OMIM:619743	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 55; COXPD55		1
HP:0003581	HP:0011462	Young adult onset	1	POLRMT CL E G H	5442	9200	OMIM:619743	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 55; COXPD55		1
HP:0003581	HP:0003584	Late onset	1	PPARG CL E G H	5468	9236	OMIM:125853	Diabetes mellitus, noninsulin-dependent	.	42
HP:0003581	HP:0011462	Young adult onset	1	PPARG CL E G H	5468	9236	OMIM:604367	Lipodystrophy, familial partial, type 3		42
HP:0003581	HP:0011462	Young adult onset	1	PPOX CL E G H	5498	9280	OMIM:176200	Porphyria variegata		41
HP:0003581	HP:0003584	Late onset	1	PPP1R3A CL E G H	5506	9291	OMIM:125853	Diabetes mellitus, noninsulin-dependent	.	12
HP:0003581	HP:0011462	Young adult onset	1	PPP2R3C CL E G H	55012	17485	OMIM:618420	Spermatogenic failure 36
HP:0003581	HP:0011462	Young adult onset	1	PRDM16 CL E G H	63976	14000	OMIM:615373	Left ventricular noncompaction 8		148
HP:0003581	HP:0011462	Young adult onset	1	PRDX3 CL E G H	10935	9354	OMIM:619862
HP:0003581	HP:0011462	Young adult onset	1	PRKAG2 CL E G H	51422	9386	OMIM:194200	WOLFF-PARKINSON-WHITE SYNDROME		235
HP:0003581	HP:0011462	Young adult onset	1	PRKAR1A CL E G H	5573	9388	OMIM:610489	Pigmented nodular adrenocortical disease, primary, 1		134
HP:0003581	HP:0003596	Middle age onset	1	PRKN CL E G H	5071	8607	OMIM:600116	Parkinson disease, juvenile, type 2		138
HP:0003581	HP:0011462	Young adult onset	1	PRKN CL E G H	5071	8607	OMIM:600116	Parkinson disease, juvenile, type 2		138
HP:0003581	HP:0011462	Young adult onset	1	PRKRA CL E G H	8575	9438	OMIM:612067	Dystonia 16		37
HP:0003581	HP:0003596	Middle age onset	1	PRNP CL E G H	5621	9449	OMIM:123400	Creutzfeldt-Jakob disease		69
HP:0003581	HP:0011462	Young adult onset	1	PRNP CL E G H	5621	9449	OMIM:603218	Huntington disease-like 1		69
HP:0003581	HP:0011462	Young adult onset	1	PRPF8 CL E G H	10594	17340	OMIM:600059	Retinitis pigmentosa 13		94
HP:0003581	HP:0011462	Young adult onset	1	PRPH2 CL E G H	5961	9942	OMIM:608161	Macular dystrophy, vitelliform, 3		159
HP:0003581	HP:0011462	Young adult onset	1	PRY CL E G H	9081	14024	OMIM:415000	SPERMATOGENIC FAILURE, NONOBSTRUCTIVE, Y-LINKED
HP:0003581	HP:0011462	Young adult onset	1	PRY2 CL E G H	442862	21504	OMIM:415000	SPERMATOGENIC FAILURE, NONOBSTRUCTIVE, Y-LINKED		5
HP:0003581	HP:0003596	Middle age onset	1	PSAP CL E G H	5660	9498	OMIM:619491	PARKINSON DISEASE 24, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO; PARK24		81
HP:0003581	HP:0011462	Young adult onset	1	PSAP CL E G H	5660	9498	OMIM:619491	PARKINSON DISEASE 24, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO; PARK24		81
HP:0003581	HP:0011462	Young adult onset	1	PSEN1 CL E G H	5663	9508	OMIM:613694	Cardiomyopathy, dilated, 1U		241
HP:0003581	HP:0003596	Middle age onset	1	PSEN1 CL E G H	5663	9508	OMIM:613694	Cardiomyopathy, dilated, 1U		241
HP:0003581	HP:0003596	Middle age onset	1	PSEN1 CL E G H	5663	9508	OMIM:600274	Frontotemporal dementia		241
HP:0003581	HP:0011462	Young adult onset	1	PSEN1 CL E G H	5663	9508	OMIM:600274	Frontotemporal dementia		241
HP:0003581	HP:0003596	Middle age onset	1	PSEN2 CL E G H	5664	9509	OMIM:606889	Alzheimer disease 4		59
HP:0003581	HP:0003584	Late onset	1	PSEN2 CL E G H	5664	9509	OMIM:613697	Cardiomyopathy, dilated, 1V		59
HP:0003581	HP:0011462	Young adult onset	1	PSEN2 CL E G H	5664	9509	OMIM:613697	Cardiomyopathy, dilated, 1V		59
HP:0003581	HP:0003596	Middle age onset	1	PSEN2 CL E G H	5664	9509	OMIM:613697	Cardiomyopathy, dilated, 1V		59
HP:0003581	HP:0003584	Late onset	1	PTPN1 CL E G H	5770	9642	OMIM:125853	Diabetes mellitus, noninsulin-dependent	.	1
HP:0003581	HP:0003596	Middle age onset	1	PYGM CL E G H	5837	9726	OMIM:232600	Glycogen storage disease V		166
HP:0003581	HP:0003596	Middle age onset	1	RAB39B CL E G H	116442	16499	OMIM:311510	Waisman syndrome		34
HP:0003581	HP:0011462	Young adult onset	1	RAB39B CL E G H	116442	16499	OMIM:311510	Waisman syndrome		34
HP:0003581	HP:0011462	Young adult onset	1	RAF1 CL E G H	5894	9829	OMIM:615916	Cardiomyopathy, dilated, 1nn		212
HP:0003581	HP:0003596	Middle age onset	1	RAF1 CL E G H	5894	9829	OMIM:615916	Cardiomyopathy, dilated, 1nn		212
HP:0003581	HP:0011462	Young adult onset	1	RAX2 CL E G H	84839	18286	OMIM:620102			52
HP:0003581	HP:0003596	Middle age onset	1	RAX2 CL E G H	84839	18286	OMIM:620102			52
HP:0003581	HP:0011462	Young adult onset	1	RBM20 CL E G H	282996	27424	OMIM:613172	Cardiomyopathy, dilated, 1dd		363
HP:0003581	HP:0011462	Young adult onset	1	RBMY1A1 CL E G H	5940	9912	OMIM:415000	SPERMATOGENIC FAILURE, NONOBSTRUCTIVE, Y-LINKED
HP:0003581	HP:0003596	Middle age onset	1	REEP1 CL E G H	65055	25786	OMIM:610250	Spastic paraplegia 31, autosomal dominant		87
HP:0003581	HP:0011462	Young adult onset	1	REEP1 CL E G H	65055	25786	OMIM:610250	Spastic paraplegia 31, autosomal dominant		87
HP:0003581	HP:0011462	Young adult onset	1	RELN CL E G H	5649	9957	OMIM:600512	EPILEPSY, FAMILIAL TEMPORAL LOBE, 1; ETL1		334
HP:0003581	HP:0003596	Middle age onset	1	RELN CL E G H	5649	9957	OMIM:600512	EPILEPSY, FAMILIAL TEMPORAL LOBE, 1; ETL1		334
HP:0003581	HP:0003584	Late onset	1	RETN CL E G H	56729	20389	OMIM:125853	Diabetes mellitus, noninsulin-dependent	.	1
HP:0003581	HP:0011462	Young adult onset	1	RILPL1 CL E G H	353116	26814	OMIM:619790	OCULOPHARYNGODISTAL MYOPATHY 4; OPDM4
HP:0003581	HP:0003596	Middle age onset	1	RIPOR2 CL E G H	9750	13872	OMIM:607017	Deafness, autosomal dominant 21		1
HP:0003581	HP:0011462	Young adult onset	1	RIPOR2 CL E G H	9750	13872	OMIM:607017	Deafness, autosomal dominant 21		1
HP:0003581	HP:0011462	Young adult onset	1	RP1 CL E G H	6101	10263	OMIM:180100	Retinitis pigmentosa 1		111
HP:0003581	HP:0011462	Young adult onset	1	RP2 CL E G H	6102	10274	OMIM:312600	Retinitis pigmentosa 2, X-linked		45
HP:0003581	HP:0003596	Middle age onset	1	RPA1 CL E G H	6117	10289	OMIM:619767	PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 6; PFBMFT6
HP:0003581	HP:0011462	Young adult onset	1	RPGR CL E G H	6103	10295	OMIM:304020	Cone-rod dystrophy, X-linked, 1		200
HP:0003581	HP:0003596	Middle age onset	1	RPGR CL E G H	6103	10295	OMIM:300029	Retinitis pigmentosa 3		200
HP:0003581	HP:0011462	Young adult onset	1	RPL10L CL E G H	140801	17976	OMIM:619689	SPERMATOGENIC FAILURE 63; SPGF63		2
HP:0003581	HP:0003584	Late onset	1	RPS14 CL E G H	6208	10387	OMIM:153550	Chromosome 5q deletion syndrome
HP:0003581	HP:0011462	Young adult onset	1	RPS4Y2 CL E G H	140032	18501	OMIM:415000	SPERMATOGENIC FAILURE, NONOBSTRUCTIVE, Y-LINKED
HP:0003581	HP:0003596	Middle age onset	1	RRM2B CL E G H	50484	17296	OMIM:613077	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5		125
HP:0003581	HP:0011462	Young adult onset	1	RRM2B CL E G H	50484	17296	OMIM:613077	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5		125
HP:0003581	HP:0003584	Late onset	1	RYR2 CL E G H	6262	10484	OMIM:600996	Arrhythmogenic right ventricular dysplasia, familial, 2		1103
HP:0003581	HP:0011462	Young adult onset	1	RYR2 CL E G H	6262	10484	OMIM:600996	Arrhythmogenic right ventricular dysplasia, familial, 2		1103
HP:0003581	HP:0011462	Young adult onset	1	RYR2 CL E G H	6262	10484	OMIM:604772	VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY; CPVT1		1103
HP:0003581	HP:0003596	Middle age onset	1	SAMD9L CL E G H	219285	1349	OMIM:619806	SPINOCEREBELLAR ATAXIA 49; SCA49		4
HP:0003581	HP:0011462	Young adult onset	1	SAMD9L CL E G H	219285	1349	OMIM:619806	SPINOCEREBELLAR ATAXIA 49; SCA49		4
HP:0003581	HP:0011462	Young adult onset	1	SCN1A CL E G H	6323	10585	OMIM:609634	Migraine, familial hemiplegic, 3		1053
HP:0003581	HP:0003596	Middle age onset	1	SCN1B CL E G H	6324	10586	OMIM:615377	Atrial fibrillation, familial, 13		126
HP:0003581	HP:0003596	Middle age onset	1	SCN2B CL E G H	6327	10589	OMIM:615378	Atrial fibrillation, familial, 14		21
HP:0003581	HP:0003596	Middle age onset	1	SCN3B CL E G H	55800	20665	OMIM:613120	Brugada syndrome 7		122
HP:0003581	HP:0011462	Young adult onset	1	SCN3B CL E G H	55800	20665	OMIM:613120	Brugada syndrome 7		122
HP:0003581	HP:0011462	Young adult onset	1	SCN4A CL E G H	6329	10591	OMIM:608390	Myotonia, potassium-aggravated		263
HP:0003581	HP:0003596	Middle age onset	1	SCN5A CL E G H	6331	10593	OMIM:614022	Atrial fibrillation, familial, 10		1134
HP:0003581	HP:0011462	Young adult onset	1	SCN5A CL E G H	6331	10593	OMIM:601154	Cardiomyopathy, dilated, 1E		1134
HP:0003581	HP:0011462	Young adult onset	1	SCNN1G CL E G H	6340	10602	OMIM:618114	Liddle syndrome 2		57
HP:0003581	HP:0003596	Middle age onset	1	SDHA CL E G H	6389	10680	OMIM:619259	NEURODEGENERATION WITH ATAXIA AND LATE-ONSET OPTIC ATROPHY; NDAXOA		304
HP:0003581	HP:0011462	Young adult onset	1	SEC23B CL E G H	10483	10702	OMIM:224100	Anemia, dyserythropoietic congenital, type II		60
HP:0003581	HP:0003596	Middle age onset	1	SEC23B CL E G H	10483	10702	OMIM:224100	Anemia, dyserythropoietic congenital, type II		60
HP:0003581	HP:0003584	Late onset	1	SEC23B CL E G H	10483	10702	OMIM:224100	Anemia, dyserythropoietic congenital, type II		60
HP:0003581	HP:0011462	Young adult onset	1	SELENBP1 CL E G H	8991	10719	OMIM:618148	Extraoral halitosis due to MTO deficiency
HP:0003581	HP:0011462	Young adult onset	1	SEMA3A CL E G H	10371	10723	OMIM:614897	Hypogonadotropic hypogonadism 16 with or without anosmia		14
HP:0003581	HP:0011462	Young adult onset	1	SERPINA1 CL E G H	5265	8941	OMIM:613490	Alpha-1-Antitrypsin deficiency		131
HP:0003581	HP:0011462	Young adult onset	1	SERPING1 CL E G H	710	1228	OMIM:106100	Angioedema, hereditary, 1		64
HP:0003581	HP:0011462	Young adult onset	1	SERPINH1 CL E G H	871	1546	OMIM:610504	Preterm premature rupture of the membranes		52
HP:0003581	HP:0011462	Young adult onset	1	SETX CL E G H	23064	445	OMIM:602433	Amyotrophic lateral sclerosis 4, juvenile		162
HP:0003581	HP:0003584	Late onset	1	SFTPA1 CL E G H	653509	10798	OMIM:619611	INTERSTITIAL LUNG DISEASE 1; ILD1		19
HP:0003581	HP:0011462	Young adult onset	1	SFTPA1 CL E G H	653509	10798	OMIM:619611	INTERSTITIAL LUNG DISEASE 1; ILD1		19
HP:0003581	HP:0003596	Middle age onset	1	SFTPA1 CL E G H	653509	10798	OMIM:619611	INTERSTITIAL LUNG DISEASE 1; ILD1		19
HP:0003581	HP:0011462	Young adult onset	1	SGCD CL E G H	6444	10807	OMIM:606685	CARDIOMYOPATHY, DILATED, 1L; CMD1L		223
HP:0003581	HP:0011462	Young adult onset	1	SH3BP2 CL E G H	6452	10825	OMIM:118400	Cherubism		177
HP:0003581	HP:0011462	Young adult onset	1	SHANK3 CL E G H	85358	14294	OMIM:613950	Schizophrenia 15		53
HP:0003581	HP:0011462	Young adult onset	1	SHOC1 CL E G H	158401	26535	OMIM:619949
HP:0003581	HP:0011462	Young adult onset	1	SLC17A9 CL E G H	63910	16192	OMIM:616063	Porokeratosis 8, disseminated superficial Actinic type		3
HP:0003581	HP:0011462	Young adult onset	1	SLC19A2 CL E G H	10560	10938	OMIM:249270	Thiamine-Responsive megaloblastic anemia syndrome		55
HP:0003581	HP:0011462	Young adult onset	1	SLC19A3 CL E G H	80704	16266	OMIM:607483	Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2)		110
HP:0003581	HP:0011462	Young adult onset	1	SLC22A12 CL E G H	116085	17989	OMIM:220150	Hypouricemia, renal, 1		56
HP:0003581	HP:0011462	Young adult onset	1	SLC25A4 CL E G H	291	10990	OMIM:609283	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2		68
HP:0003581	HP:0011462	Young adult onset	1	SLC26A8 CL E G H	116369	14468	OMIM:606766	Spermatogenic failure 3		3
HP:0003581	HP:0003584	Late onset	1	SLC2A2 CL E G H	6514	11006	OMIM:125853	Diabetes mellitus, noninsulin-dependent	.	71
HP:0003581	HP:0003584	Late onset	1	SLC30A8 CL E G H	169026	20303	OMIM:125853	Diabetes mellitus, noninsulin-dependent	.	3
HP:0003581	HP:0011462	Young adult onset	1	SLC34A2 CL E G H	10568	11020	OMIM:265100	Pulmonary alveolar microlithiasis		7
HP:0003581	HP:0003596	Middle age onset	1	SLC37A4 CL E G H	2542	4061	OMIM:619525	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw; CDG2W		110
HP:0003581	HP:0011462	Young adult onset	1	SLC37A4 CL E G H	2542	4061	OMIM:619525	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw; CDG2W		110
HP:0003581	HP:0011462	Young adult onset	1	SLC39A14 CL E G H	23516	20858	OMIM:144755	Hyperostosis cranialis interna		5
HP:0003581	HP:0011462	Young adult onset	1	SLC44A4 CL E G H	80736	13941	OMIM:617606	Deafness, autosomal dominant 72		1
HP:0003581	HP:0011462	Young adult onset	1	SLC4A11 CL E G H	83959	16438	OMIM:217400	Corneal endothelial dystrophy and perceptive deafness		66
HP:0003581	HP:0011462	Young adult onset	1	SLC4A4 CL E G H	8671	11030	OMIM:604278	Renal tubular acidosis, proximal, with ocular abnormalities and mentalretardation		89
HP:0003581	HP:0011462	Young adult onset	1	SLC7A6OS CL E G H	84138	25807	OMIM:619191	EPILEPSY, PROGRESSIVE MYOCLONIC, 12; EPM12
HP:0003581	HP:0011462	Young adult onset	1	SLCO2A1 CL E G H	6578	10955	OMIM:167100	Hypertrophic osteoarthropathy, primary, autosomal dominant		13
HP:0003581	HP:0011462	Young adult onset	1	SLCO2A1 CL E G H	6578	10955	OMIM:614441	Hypertrophic osteoarthropathy, primary, autosomal recessive 2		13
HP:0003581	HP:0011462	Young adult onset	1	SMN1 CL E G H	6606	11117	OMIM:253400	Spinal muscular atrophy, type III		22
HP:0003581	HP:0011462	Young adult onset	1	SMN1 CL E G H	6606	11117	OMIM:271150	Spinal muscular atrophy, type IV		22
HP:0003581	HP:0011462	Young adult onset	1	SMN2 CL E G H	6607	11118	OMIM:253400	Spinal muscular atrophy, type III		1
HP:0003581	HP:0011462	Young adult onset	1	SMPD1 CL E G H	6609	11120	OMIM:607616	Niemann-pick disease, type B		164
HP:0003581	HP:0003596	Middle age onset	1	SMPD1 CL E G H	6609	11120	OMIM:607616	Niemann-pick disease, type B		164
HP:0003581	HP:0011462	Young adult onset	1	SMPX CL E G H	23676	11122	OMIM:301075	MYOPATHY, DISTAL, 7, ADULT-ONSET, X-LINKED; MPD7		12
HP:0003581	HP:0003596	Middle age onset	1	SMPX CL E G H	23676	11122	OMIM:301075	MYOPATHY, DISTAL, 7, ADULT-ONSET, X-LINKED; MPD7		12
HP:0003581	HP:0003596	Middle age onset	1	SNCA CL E G H	6622	11138	OMIM:605543	Parkinson disease 4	.	65
HP:0003581	HP:0003584	Late onset	1	SNCAIP CL E G H	9627	11139	OMIM:168600	Parkinson disease, late-onset		35
HP:0003581	HP:0003596	Middle age onset	1	SNORD118 CL E G H	727676	32952	OMIM:614561	Leukoencephalopathy, brain calcifications, and cysts		6
HP:0003581	HP:0011462	Young adult onset	1	SNORD118 CL E G H	727676	32952	OMIM:614561	Leukoencephalopathy, brain calcifications, and cysts		6
HP:0003581	HP:0011462	Young adult onset	1	SNTA1 CL E G H	6640	11167	OMIM:612955	Long QT syndrome 12		118
HP:0003581	HP:0003596	Middle age onset	1	SOCS1 CL E G H	8651	19383	OMIM:619375	AUTOINFLAMMATORY SYNDROME, FAMILIAL, WITH OR WITHOUT IMMUNODEFICIENCY; AISIMD		6
HP:0003581	HP:0011462	Young adult onset	1	SOCS1 CL E G H	8651	19383	OMIM:619375	AUTOINFLAMMATORY SYNDROME, FAMILIAL, WITH OR WITHOUT IMMUNODEFICIENCY; AISIMD		6
HP:0003581	HP:0011462	Young adult onset	1	SOST CL E G H	50964	13771	OMIM:269500	Sclerosteosis 1		26
HP:0003581	HP:0011462	Young adult onset	1	SPAG17 CL E G H	200162	26620	OMIM:619380	SPERMATOGENIC FAILURE 55; SPGF55		2
HP:0003581	HP:0011462	Young adult onset	1	SPG11 CL E G H	80208	11226	OMIM:602099	Amyotrophic lateral sclerosis 5, juvenile		287
HP:0003581	HP:0011462	Young adult onset	1	SPRY2 CL E G H	10253	11270	OMIM:616818	Iga nephropathy, susceptibility to, 3		1
HP:0003581	HP:0011462	Young adult onset	1	SPTLC2 CL E G H	9517	11278	OMIM:613640	Neuropathy, hereditary sensory and autonomic, type IC		149
HP:0003581	HP:0003596	Middle age onset	1	SPTLC2 CL E G H	9517	11278	OMIM:613640	Neuropathy, hereditary sensory and autonomic, type IC		149
HP:0003581	HP:0011462	Young adult onset	1	STAG3 CL E G H	10734	11356	OMIM:615723	Premature ovarian failure 8		4
HP:0003581	HP:0011462	Young adult onset	1	STAT1 CL E G H	6772	11362	OMIM:614162	Immunodeficiency 31C		89
HP:0003581	HP:0011462	Young adult onset	1	STOX1 CL E G H	219736	23508	OMIM:609404	Preeclampsia/eclampsia 4		2
HP:0003581	HP:0011462	Young adult onset	1	STRC CL E G H	161497	16035	OMIM:612997	Spermatogenic failure 7		78
HP:0003581	HP:0003596	Middle age onset	1	STT3A CL E G H	3703	6172	OMIM:619714	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iw, AUTOSOMAL DOMINANT; CDG1WAD		21
HP:0003581	HP:0011462	Young adult onset	1	STT3A CL E G H	3703	6172	OMIM:619714	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iw, AUTOSOMAL DOMINANT; CDG1WAD		21
HP:0003581	HP:0011462	Young adult onset	1	SYCE1 CL E G H	93426	28852	OMIM:616950	Spermatogenic failure 15		4
HP:0003581	HP:0011462	Young adult onset	1	SYCP2 CL E G H	10388	11490	OMIM:258150	SPERMATOGENIC FAILURE 1; SPGF1		1
HP:0003581	HP:0011462	Young adult onset	1	SYCP3 CL E G H	50511	18130	OMIM:270960	Spermatogenic failure 4		12
HP:0003581	HP:0011462	Young adult onset	1	TAF4B CL E G H	6875	11538	OMIM:615841	Spermatogenic failure 13		1
HP:0003581	HP:0003584	Late onset	1	TARDBP CL E G H	23435	11571	OMIM:612069	Amyotrophic lateral sclerosis 10 with or without frontotemporal dementia		65
HP:0003581	HP:0011462	Young adult onset	1	TBC1D24 CL E G H	57465	29203	OMIM:616044	Deafness, autosomal dominant 65		271
HP:0003581	HP:0003596	Middle age onset	1	TBK1 CL E G H	29110	11584	OMIM:617900	Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8		20
HP:0003581	HP:0003584	Late onset	1	TBP CL E G H	6908	11588	OMIM:168600	Parkinson disease, late-onset		7
HP:0003581	HP:0011462	Young adult onset	1	TBP CL E G H	6908	11588	OMIM:607136	Spinocerebellar ataxia 17		7
HP:0003581	HP:0003584	Late onset	1	TBP CL E G H	6908	11588	OMIM:607136	Spinocerebellar ataxia 17		7
HP:0003581	HP:0003596	Middle age onset	1	TBP CL E G H	6908	11588	OMIM:607136	Spinocerebellar ataxia 17		7
HP:0003581	HP:0011462	Young adult onset	1	TBX18 CL E G H	9096	11595	OMIM:143400	Congenital anomalies of kidney and urinary tract 2		5
HP:0003581	HP:0003596	Middle age onset	1	TBX18 CL E G H	9096	11595	OMIM:143400	Congenital anomalies of kidney and urinary tract 2		5
HP:0003581	HP:0011462	Young adult onset	1	TBX3 CL E G H	6926	11602	OMIM:181450	Ulnar-Mammary syndrome		100
HP:0003581	HP:0003584	Late onset	1	TCF7L2 CL E G H	6934	11641	OMIM:125853	Diabetes mellitus, noninsulin-dependent	.	4
HP:0003581	HP:0011462	Young adult onset	1	TECRL CL E G H	253017	27365	OMIM:614021	Ventricular tachycardia, catecholaminergic polymorphic, 3		4
HP:0003581	HP:0011462	Young adult onset	1	TERB1 CL E G H	283847	26675	OMIM:619646	SPERMATOGENIC FAILURE 60; SPGF60
HP:0003581	HP:0011462	Young adult onset	1	TERB2 CL E G H	145645	28520	OMIM:619645	SPERMATOGENIC FAILURE 59; SPGF59
HP:0003581	HP:0011462	Young adult onset	1	TERT CL E G H	7015	11730	OMIM:613989	Dyskeratosis congenita, autosomal dominant 2		238
HP:0003581	HP:0003596	Middle age onset	1	TERT CL E G H	7015	11730	OMIM:613989	Dyskeratosis congenita, autosomal dominant 2		238
HP:0003581	HP:0003596	Middle age onset	1	TGFBI CL E G H	7045	11771	OMIM:121820	Corneal dystrophy, epithelial basement membrane		58
HP:0003581	HP:0011462	Young adult onset	1	TGFBI CL E G H	7045	11771	OMIM:121820	Corneal dystrophy, epithelial basement membrane		58
HP:0003581	HP:0003596	Middle age onset	1	TGM6 CL E G H	343641	16255	OMIM:613908	Spinocerebellar ataxia 35		58
HP:0003581	HP:0011462	Young adult onset	1	THAP1 CL E G H	55145	20856	OMIM:602629	Dystonia 6, torsion		42
HP:0003581	HP:0003584	Late onset	1	THSD1 CL E G H	55901	17754	OMIM:618734	ANEURYSM, INTRACRANIAL BERRY, 12; ANIB12		2
HP:0003581	HP:0003596	Middle age onset	1	THSD1 CL E G H	55901	17754	OMIM:618734	ANEURYSM, INTRACRANIAL BERRY, 12; ANIB12		2
HP:0003581	HP:0003596	Middle age onset	1	THSD4 CL E G H	79875	25835	OMIM:619825	AORTIC ANEURYSM, FAMILIAL THORACIC 12; AAT12		2
HP:0003581	HP:0003584	Late onset	1	THSD4 CL E G H	79875	25835	OMIM:619825	AORTIC ANEURYSM, FAMILIAL THORACIC 12; AAT12		2
HP:0003581	HP:0011462	Young adult onset	1	THSD4 CL E G H	79875	25835	OMIM:619825	AORTIC ANEURYSM, FAMILIAL THORACIC 12; AAT12		2
HP:0003581	HP:0003584	Late onset	1	TIA1 CL E G H	7072	11802	OMIM:619133	AMYOTROPHIC LATERAL SCLEROSIS 26 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA; ALS26		5
HP:0003581	HP:0011462	Young adult onset	1	TIA1 CL E G H	7072	11802	OMIM:619133	AMYOTROPHIC LATERAL SCLEROSIS 26 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA; ALS26		5
HP:0003581	HP:0003596	Middle age onset	1	TIA1 CL E G H	7072	11802	OMIM:619133	AMYOTROPHIC LATERAL SCLEROSIS 26 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA; ALS26		5
HP:0003581	HP:0011462	Young adult onset	1	TIE1 CL E G H	7075	11809	OMIM:619401	LYMPHATIC MALFORMATION 11; LMPHM11
HP:0003581	HP:0011462	Young adult onset	1	TIMP3 CL E G H	7078	11822	OMIM:136900	Sorsby fundus dystrophy		95
HP:0003581	HP:0011462	Young adult onset	1	TINF2 CL E G H	26277	11824	OMIM:613990	Dyskeratosis congenita, autosomal dominant 3		60
HP:0003581	HP:0011462	Young adult onset	1	TLCD3B CL E G H	83723	25295	OMIM:619531	CONE-ROD DYSTROPHY 22; CORD22
HP:0003581	HP:0011462	Young adult onset	1	TLR7 CL E G H	51284	15631	OMIM:301080
HP:0003581	HP:0011462	Young adult onset	1	TLR8 CL E G H	51311	15632	OMIM:301078	IMMUNODEFICIENCY 98 WITH AUTOINFLAMMATION, X-LINKED; IMD98
HP:0003581	HP:0003596	Middle age onset	1	TMEM240 CL E G H	339453	25186	OMIM:607454	Spinocerebellar ataxia 21		9
HP:0003581	HP:0011462	Young adult onset	1	TMEM43 CL E G H	79188	28472	OMIM:604400	Arrhythmogenic right ventricular dysplasia, familial, 5		171
HP:0003581	HP:0003584	Late onset	1	TMEM43 CL E G H	79188	28472	OMIM:619832	AUDITORY NEUROPATHY, AUTOSOMAL DOMINANT 3; AUNA3		171
HP:0003581	HP:0011462	Young adult onset	1	TNFAIP3 CL E G H	7128	11896	OMIM:616744	AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE; AISBL		26
HP:0003581	HP:0003584	Late onset	1	TNNC1 CL E G H	7134	11943	OMIM:611879	CARDIOMYOPATHY, DILATED, 1Z; CMD1Z		73
HP:0003581	HP:0003596	Middle age onset	1	TNNC1 CL E G H	7134	11943	OMIM:611879	CARDIOMYOPATHY, DILATED, 1Z; CMD1Z		73
HP:0003581	HP:0011462	Young adult onset	1	TNNC1 CL E G H	7134	11943	OMIM:611879	CARDIOMYOPATHY, DILATED, 1Z; CMD1Z		73
HP:0003581	HP:0011462	Young adult onset	1	TNNC1 CL E G H	7134	11943	OMIM:613243	Cardiomyopathy, familial hypertrophic, 13		73
HP:0003581	HP:0003596	Middle age onset	1	TNNC1 CL E G H	7134	11943	OMIM:613243	Cardiomyopathy, familial hypertrophic, 13		73
HP:0003581	HP:0011462	Young adult onset	1	TNNI3 CL E G H	7137	11947	OMIM:613286	Cardiomyopathy, dilated, 1ff		180
HP:0003581	HP:0003596	Middle age onset	1	TNNI3 CL E G H	7137	11947	OMIM:613286	Cardiomyopathy, dilated, 1ff		180
HP:0003581	HP:0011462	Young adult onset	1	TNNI3 CL E G H	7137	11947	OMIM:611880	Cardiomyopathy, dilated, 2A	.	180
HP:0003581	HP:0003596	Middle age onset	1	TNNT2 CL E G H	7139	11949	OMIM:601494	Cardiomyopathy, dilated, 1D		248
HP:0003581	HP:0011462	Young adult onset	1	TNNT2 CL E G H	7139	11949	OMIM:601494	Cardiomyopathy, dilated, 1D		248
HP:0003581	HP:0003596	Middle age onset	1	TNNT2 CL E G H	7139	11949	OMIM:115195	Cardiomyopathy, familial hypertrophic, 2		248
HP:0003581	HP:0011462	Young adult onset	1	TNNT2 CL E G H	7139	11949	OMIM:115195	Cardiomyopathy, familial hypertrophic, 2		248
HP:0003581	HP:0003596	Middle age onset	1	TOR1A CL E G H	1861	3098	OMIM:128100	Dystonia 1, torsion, autosomal dominant		47
HP:0003581	HP:0011462	Young adult onset	1	TOR1AIP1 CL E G H	26092	29456	OMIM:617072	Muscular dystrophy, limb-girdle, type 2Y		10
HP:0003581	HP:0011462	Young adult onset	1	TP53 CL E G H	7157	11998	OMIM:260500	Papilloma of choroid plexus		911
HP:0003581	HP:0011462	Young adult onset	1	TPM1 CL E G H	7168	12010	OMIM:611878	Cardiomyopathy, dilated, 1Y		230
HP:0003581	HP:0003584	Late onset	1	TPM1 CL E G H	7168	12010	OMIM:611878	Cardiomyopathy, dilated, 1Y		230
HP:0003581	HP:0003596	Middle age onset	1	TPM1 CL E G H	7168	12010	OMIM:611878	Cardiomyopathy, dilated, 1Y		230
HP:0003581	HP:0011462	Young adult onset	1	TRDN CL E G H	10345	12261	OMIM:604772	VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY; CPVT1		145
HP:0003581	HP:0011462	Young adult onset	1	TRIM32 CL E G H	22954	16380	OMIM:254110	Muscular dystrophy, limb-girdle, type 2H		108
HP:0003581	HP:0011462	Young adult onset	1	TRMT5 CL E G H	57570	23141	OMIM:616539	Combined oxidative phosphorylation deficiency 26		4
HP:0003581	HP:0003584	Late onset	1	TRNT CL E G H	4576	7499	OMIM:168600	Parkinson disease, late-onset
HP:0003581	HP:0011462	Young adult onset	1	TRPV4 CL E G H	59341	18083	OMIM:606071	Hereditary motor and sensory neuropathy, type IIC		214
HP:0003581	HP:0011462	Young adult onset	1	TTC21A CL E G H	199223	30761	OMIM:618429	Spermatogenic failure 37
HP:0003581	HP:0003596	Middle age onset	1	TTLL5 CL E G H	23093	19963	OMIM:615860	Cone-Rod dystrophy 19		9
HP:0003581	HP:0011462	Young adult onset	1	TTLL5 CL E G H	23093	19963	OMIM:615860	Cone-Rod dystrophy 19		9
HP:0003581	HP:0003596	Middle age onset	1	TTN CL E G H	7273	12403	OMIM:604145	CARDIOMYOPATHY, DILATED, 1G; CMD1G		7128
HP:0003581	HP:0011462	Young adult onset	1	TTN CL E G H	7273	12403	OMIM:608807	Muscular dystrophy, limb-girdle, autosomal recessive 10		7128
HP:0003581	HP:0011462	Young adult onset	1	TUBB4A CL E G H	10382	20774	OMIM:128101	Dystonia 4, torsion, autosomal dominant		66
HP:0003581	HP:0011462	Young adult onset	1	TULP3 CL E G H	7289	12425	OMIM:619902
HP:0003581	HP:0011462	Young adult onset	1	TWNK CL E G H	56652	1160	OMIM:607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis		113
HP:0003581	HP:0011462	Young adult onset	1	TYROBP CL E G H	7305	12449	OMIM:221770	Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy		22
HP:0003581	HP:0003596	Middle age onset	1	UBA1 CL E G H	7317	12469	OMIM:301054	VEXAS SYNDROME; VEXAS		35
HP:0003581	HP:0011462	Young adult onset	1	UNC13D CL E G H	201294	23147	OMIM:608898	HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3; FHL3		116
HP:0003581	HP:0003596	Middle age onset	1	UQCRC1 CL E G H	7384	12585	OMIM:619279	PARKINSONISM WITH POLYNEUROPATHY; PKNPY
HP:0003581	HP:0003584	Late onset	1	UQCRC1 CL E G H	7384	12585	OMIM:619279	PARKINSONISM WITH POLYNEUROPATHY; PKNPY
HP:0003581	HP:0011462	Young adult onset	1	USP9Y CL E G H	8287	12633	OMIM:415000	SPERMATOGENIC FAILURE, NONOBSTRUCTIVE, Y-LINKED		2
HP:0003581	HP:0011462	Young adult onset	1	VAMP1 CL E G H	6843	12642	OMIM:108600	Spastic ataxia 1, autosomal dominant		2
HP:0003581	HP:0003596	Middle age onset	1	VAPB CL E G H	9217	12649	OMIM:608627	Amyotrophic lateral sclerosis 8		116
HP:0003581	HP:0011462	Young adult onset	1	VAPB CL E G H	9217	12649	OMIM:608627	Amyotrophic lateral sclerosis 8		116
HP:0003581	HP:0011462	Young adult onset	1	VAPB CL E G H	9217	12649	OMIM:182980	Spinal muscular atrophy, proximal, adult, autosomal dominantspinal muscular atrophy, late-onset, finkel type, included		116
HP:0003581	HP:0003596	Middle age onset	1	VAPB CL E G H	9217	12649	OMIM:182980	Spinal muscular atrophy, proximal, adult, autosomal dominantspinal muscular atrophy, late-onset, finkel type, included		116
HP:0003581	HP:0003596	Middle age onset	1	VCL CL E G H	7414	12665	OMIM:611407	CARDIOMYOPATHY, DILATED, 1W; CMD1W		248
HP:0003581	HP:0011462	Young adult onset	1	VCL CL E G H	7414	12665	OMIM:611407	CARDIOMYOPATHY, DILATED, 1W; CMD1W		248
HP:0003581	HP:0003584	Late onset	1	VCL CL E G H	7414	12665	OMIM:613255	Cardiomyopathy, familial hypertrophic, 15		248
HP:0003581	HP:0003596	Middle age onset	1	VCL CL E G H	7414	12665	OMIM:613255	Cardiomyopathy, familial hypertrophic, 15		248
HP:0003581	HP:0003596	Middle age onset	1	VCP CL E G H	7415	12666	OMIM:613954	Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia		63
HP:0003581	HP:0003596	Middle age onset	1	VCP CL E G H	7415	12666	OMIM:167320	Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 1		63
HP:0003581	HP:0011462	Young adult onset	1	VCP CL E G H	7415	12666	OMIM:167320	Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 1		63
HP:0003581	HP:0011462	Young adult onset	1	VCY CL E G H	9084	12668	OMIM:415000	SPERMATOGENIC FAILURE, NONOBSTRUCTIVE, Y-LINKED		2
HP:0003581	HP:0011462	Young adult onset	1	VHL CL E G H	7428	12687	OMIM:193300	Von hippel-lindau syndrome		490
HP:0003581	HP:0011462	Young adult onset	1	VPS11 CL E G H	55823	14583	OMIM:619637	DYSTONIA 32; DYT32		1
HP:0003581	HP:0011462	Young adult onset	1	VPS16 CL E G H	64601	14584	OMIM:619291	DYSTONIA 30; DYT30
HP:0003581	HP:0003596	Middle age onset	1	VPS16 CL E G H	64601	14584	OMIM:619291	DYSTONIA 30; DYT30
HP:0003581	HP:0011462	Young adult onset	1	VSX1 CL E G H	30813	12723	OMIM:148300	Keratoconus 1	.	47
HP:0003581	HP:0011462	Young adult onset	1	WDR19 CL E G H	57728	18340	OMIM:619867			95
HP:0003581	HP:0003584	Late onset	1	WFS1 CL E G H	7466	12762	OMIM:125853	Diabetes mellitus, noninsulin-dependent	.	389
HP:0003581	HP:0011462	Young adult onset	1	XRCC1 CL E G H	7515	12828	OMIM:617633	Spinocerebellar ataxia, autosomal recessive 26		4
HP:0003581	HP:0011462	Young adult onset	1	XRCC2 CL E G H	7516	12829	OMIM:619146	PREMATURE OVARIAN FAILURE 17; POF17		125
HP:0003581	HP:0011462	Young adult onset	1	YARS1 CL E G H	8565	12840	OMIM:608323	Charcot-Marie-Tooth disease, dominant intermediate C
HP:0003581	HP:0011462	Young adult onset	1	ZMYND15 CL E G H	84225	20997	OMIM:615842	Spermatogenic failure 14		1
HP:0003581	HP:0011462	Young adult onset	1	ZNF408 CL E G H	79797	20041	OMIM:616469	Retinitis pigmentosa 72		14
HP:0003581	HP:0003596	Middle age onset	1	ZNF408 CL E G H	79797	20041	OMIM:616469	Retinitis pigmentosa 72		14
HP:0003581	HP:0011462	Young adult onset	1	ZP1 CL E G H	22917	13187	OMIM:615774	Oocyte maturation defect		1
HP:0003581	HP:0011462	Young adult onset	1	ZP3 CL E G H	7784	13189	OMIM:617712	Oocyte maturation defect 3
HP:0003581	HP:0011462	Young adult onset	1	ZPBP CL E G H	11055	15662	OMIM:619799	SPERMATOGENIC FAILURE 66; SPGF66
HP:0003581	HP:0011462	Young adult onset	1	ZSWIM7 CL E G H	125150	26993	OMIM:619831	SPERMATOGENIC FAILURE 71; SPGF71
HP:0003581	HP:0025708	Early young adult onset	2	ALG10B CL E G H	144245	31088	OMIM:613688	Long QT syndrome 2		3
HP:0003581	HP:0025710	Late young adult onset	2	ANXA11 CL E G H	311	535	OMIM:619733	INCLUSION BODY MYOPATHY AND BRAIN WHITE MATTER ABNORMALITIES; IBMWMA
HP:0003581	HP:0025709	Intermediate young adult onset	2	ATP6AP2 CL E G H	10159	18305	OMIM:300911	Parkinsonism with spasticity, X-linked		36
HP:0003581	HP:0025709	Intermediate young adult onset	2	ATP7B CL E G H	540	870	OMIM:277900	Wilson disease		315
HP:0003581	HP:0025710	Late young adult onset	2	ATP7B CL E G H	540	870	OMIM:277900	Wilson disease		315
HP:0003581	HP:0025710	Late young adult onset	2	ATXN3 CL E G H	4287	7106	OMIM:109150	Machado-Joseph disease		14
HP:0003581	HP:0025708	Early young adult onset	2	B2M CL E G H	567	914	OMIM:241600	Immunodeficiency 43		8
HP:0003581	HP:0025708	Early young adult onset	2	BVES CL E G H	11149	1152	OMIM:616812	Muscular dystrophy, limb-girdle, autosomal recessive 25		2
HP:0003581	HP:0025709	Intermediate young adult onset	2	C14ORF39 CL E G H	317761	19849	OMIM:619203	PREMATURE OVARIAN FAILURE 18; POF18
HP:0003581	HP:0025709	Intermediate young adult onset	2	CACNB4 CL E G H	785	1404	OMIM:607682	Epilepsy, idiopathic generalized, susceptibility to, 9		146
HP:0003581	HP:0025710	Late young adult onset	2	CACNB4 CL E G H	785	1404	OMIM:607682	Epilepsy, idiopathic generalized, susceptibility to, 9		146
HP:0003581	HP:0025708	Early young adult onset	2	CARD9 CL E G H	64170	16391	OMIM:212050	Candidiasis, familial chronic mucocutaneous, autosomal recessive		45
HP:0003581	HP:0025710	Late young adult onset	2	CAV3 CL E G H	859	1529	OMIM:611818	Long QT syndrome 9		148
HP:0003581	HP:0025708	Early young adult onset	2	CEBPE CL E G H	1053	1836	OMIM:260570	Pelger-Huet-Like anomaly and episodic fever with abdominal pain		3
HP:0003581	HP:0025710	Late young adult onset	2	CHCHD10 CL E G H	400916	15559	OMIM:615048	Spinal muscular atrophy, Jokela type		11
HP:0003581	HP:0025709	Intermediate young adult onset	2	CHRNA1 CL E G H	1134	1955	OMIM:601462	Myasthenic syndrome, congenital, 1A, slow-channel		74
HP:0003581	HP:0025710	Late young adult onset	2	CHRNA2 CL E G H	1135	1956	OMIM:610353	Epilepsy, nocturnal frontal lobe, 4		188
HP:0003581	HP:0025708	Early young adult onset	2	CLCN1 CL E G H	1180	2019	OMIM:160800	Myotonia congenita, autosomal dominant		133
HP:0003581	HP:0025710	Late young adult onset	2	CLCN2 CL E G H	1181	2020	OMIM:615651	Leukoencephalopathy with ataxia		44
HP:0003581	HP:0025708	Early young adult onset	2	COL2A1 CL E G H	1280	2200	OMIM:608805	Avascular necrosis of femoral head, primary, 1		284
HP:0003581	HP:0025710	Late young adult onset	2	CSF1R CL E G H	1436	2433	OMIM:221820	Leukoencephalopathy, diffuse hereditary, with spheroids		149
HP:0003581	HP:0025710	Late young adult onset	2	CYP27A1 CL E G H	1593	2605	OMIM:213700	Cerebrotendinous xanthomatosis		114
HP:0003581	HP:0025708	Early young adult onset	2	DNAJC3 CL E G H	5611	9439	OMIM:616192	Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus		3
HP:0003581	HP:0025708	Early young adult onset	2	DSP CL E G H	1832	3052	OMIM:607450	Arrhythmogenic right ventricular dysplasia, familial, 8		747
HP:0003581	HP:0025708	Early young adult onset	2	EIF2AK2 CL E G H	5610	9437	OMIM:619687	DYSTONIA 33; DYT33
HP:0003581	HP:0025709	Intermediate young adult onset	2	ENG CL E G H	2022	3349	OMIM:187300	Telangiectasia, hereditary hemorrhagic, type 1		186
HP:0003581	HP:0025710	Late young adult onset	2	EPCAM CL E G H	4072	11529	OMIM:613244	Colorectal cancer, hereditary nonpolyposis, type 8		170
HP:0003581	HP:0025710	Late young adult onset	2	GFAP CL E G H	2670	4235	OMIM:203450	Alexander disease		188
HP:0003581	HP:0025708	Early young adult onset	2	GPIHBP1 CL E G H	338328	24945	OMIM:615947	Hyperlipoproteinemia, type ID		12
HP:0003581	HP:0025709	Intermediate young adult onset	2	GRN CL E G H	2896	4601	OMIM:614706	Ceroid lipofuscinosis, neuronal, 11		126
HP:0003581	HP:0025708	Early young adult onset	2	GYG1 CL E G H	2992	4699	OMIM:613507	Glycogen storage disease XV		18
HP:0003581	HP:0025710	Late young adult onset	2	H6PD CL E G H	9563	4795	OMIM:604931	Cortisone reductase deficiency 1		8
HP:0003581	HP:0025708	Early young adult onset	2	HCN4 CL E G H	10021	16882	OMIM:163800	Sick sinus syndrome 2		185
HP:0003581	HP:0025708	Early young adult onset	2	HTRA1 CL E G H	5654	9476	OMIM:600142	Autosomal recessive cerebral arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL)		34
HP:0003581	HP:0025709	Intermediate young adult onset	2	JAK2 CL E G H	3717	6192	OMIM:263300	Polycythemia vera		57
HP:0003581	HP:0025708	Early young adult onset	2	KCNA5 CL E G H	3741	6224	OMIM:612240	Atrial fibrillation, familial, 7		38
HP:0003581	HP:0025710	Late young adult onset	2	KCNA5 CL E G H	3741	6224	OMIM:612240	Atrial fibrillation, familial, 7		38
HP:0003581	HP:0025708	Early young adult onset	2	KCNE1 CL E G H	3753	6240	OMIM:613695	Long QT syndrome 5		148
HP:0003581	HP:0025708	Early young adult onset	2	KCNH2 CL E G H	3757	6251	OMIM:613688	Long QT syndrome 2		901
HP:0003581	HP:0025708	Early young adult onset	2	KCNJ2 CL E G H	3759	6263	OMIM:170390	Andersen cardiodysrhythmic periodic paralysis		193
HP:0003581	HP:0025708	Early young adult onset	2	KCNJ5 CL E G H	3762	6266	OMIM:613485	Long QT syndrome 13		128
HP:0003581	HP:0025708	Early young adult onset	2	KCTD17 CL E G H	79734	25705	OMIM:616398	Dystonia 26, myoclonic		1
HP:0003581	HP:0025708	Early young adult onset	2	LHB CL E G H	3972	6584	OMIM:228300	Hypogonadotropic hypogonadism 23 without anosmia		9
HP:0003581	HP:0025708	Early young adult onset	2	LIG3 CL E G H	3980	6600	OMIM:619780	MITOCHONDRIAL DNA DEPLETION SYNDROME 20 (MNGIE TYPE); MTDPS20		1
HP:0003581	HP:0025708	Early young adult onset	2	LMNA CL E G H	4000	6636	OMIM:181350	Emery-Dreifuss muscular dystrophy 2, autosomal dominant		645
HP:0003581	HP:0025710	Late young adult onset	2	MAPT CL E G H	4137	6893	OMIM:600274	Frontotemporal dementia		140
HP:0003581	HP:0025710	Late young adult onset	2	MYH7 CL E G H	4625	7577	OMIM:255160	Myopathy, myosin storage, autosomal recessive		1269
HP:0003581	HP:0025708	Early young adult onset	2	NRCAM CL E G H	4897	7994	OMIM:619833			2
HP:0003581	HP:0025708	Early young adult onset	2	PIK3R5 CL E G H	23533	30035	OMIM:615217	Ataxia-Oculomotor apraxia 3		11
HP:0003581	HP:0025708	Early young adult onset	2	PMP2 CL E G H	5375	9117	OMIM:618279	Charcot-Marie-Tooth disease, demyelinating, type 1G		1
HP:0003581	HP:0025710	Late young adult onset	2	POLG CL E G H	5428	9179	OMIM:157640	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1		464
HP:0003581	HP:0025708	Early young adult onset	2	POLG CL E G H	5428	9179	OMIM:607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis		464
HP:0003581	HP:0025708	Early young adult onset	2	PRKRA CL E G H	8575	9438	OMIM:612067	Dystonia 16		37
HP:0003581	HP:0025710	Late young adult onset	2	PRPH2 CL E G H	5961	9942	OMIM:608161	Macular dystrophy, vitelliform, 3		159
HP:0003581	HP:0025710	Late young adult onset	2	PSEN1 CL E G H	5663	9508	OMIM:613694	Cardiomyopathy, dilated, 1U		241
HP:0003581	HP:0025710	Late young adult onset	2	PSEN1 CL E G H	5663	9508	OMIM:600274	Frontotemporal dementia		241
HP:0003581	HP:0025710	Late young adult onset	2	PSEN2 CL E G H	5664	9509	OMIM:613697	Cardiomyopathy, dilated, 1V		59
HP:0003581	HP:0025710	Late young adult onset	2	RAX2 CL E G H	84839	18286	OMIM:620102			52
HP:0003581	HP:0025710	Late young adult onset	2	SAMD9L CL E G H	219285	1349	OMIM:619806	SPINOCEREBELLAR ATAXIA 49; SCA49		4
HP:0003581	HP:0025710	Late young adult onset	2	SCN3B CL E G H	55800	20665	OMIM:613120	Brugada syndrome 7		122
HP:0003581	HP:0025708	Early young adult onset	2	SELENBP1 CL E G H	8991	10719	OMIM:618148	Extraoral halitosis due to MTO deficiency
HP:0003581	HP:0025708	Early young adult onset	2	SEMA3A CL E G H	10371	10723	OMIM:614897	Hypogonadotropic hypogonadism 16 with or without anosmia		14
HP:0003581	HP:0025708	Early young adult onset	2	SERPINA1 CL E G H	5265	8941	OMIM:613490	Alpha-1-Antitrypsin deficiency		131
HP:0003581	HP:0025709	Intermediate young adult onset	2	SLC22A12 CL E G H	116085	17989	OMIM:220150	Hypouricemia, renal, 1		56
HP:0003581	HP:0025710	Late young adult onset	2	SLC22A12 CL E G H	116085	17989	OMIM:220150	Hypouricemia, renal, 1		56
HP:0003581	HP:0025708	Early young adult onset	2	SLC4A4 CL E G H	8671	11030	OMIM:604278	Renal tubular acidosis, proximal, with ocular abnormalities and mentalretardation		89
HP:0003581	HP:0025708	Early young adult onset	2	SMN1 CL E G H	6606	11117	OMIM:253400	Spinal muscular atrophy, type III		22
HP:0003581	HP:0025708	Early young adult onset	2	SMN2 CL E G H	6607	11118	OMIM:253400	Spinal muscular atrophy, type III		1
HP:0003581	HP:0025708	Early young adult onset	2	SNTA1 CL E G H	6640	11167	OMIM:612955	Long QT syndrome 12		118
HP:0003581	HP:0025709	Intermediate young adult onset	2	SOST CL E G H	50964	13771	OMIM:269500	Sclerosteosis 1		26
HP:0003581	HP:0025708	Early young adult onset	2	STAT1 CL E G H	6772	11362	OMIM:614162	Immunodeficiency 31C		89
HP:0003581	HP:0025708	Early young adult onset	2	TLR7 CL E G H	51284	15631	OMIM:301080
HP:0003581	HP:0025708	Early young adult onset	2	TLR8 CL E G H	51311	15632	OMIM:301078	IMMUNODEFICIENCY 98 WITH AUTOINFLAMMATION, X-LINKED; IMD98
HP:0003581	HP:0025708	Early young adult onset	2	TOR1AIP1 CL E G H	26092	29456	OMIM:617072	Muscular dystrophy, limb-girdle, type 2Y		10
HP:0003581	HP:0025709	Intermediate young adult onset	2	TP53 CL E G H	7157	11998	OMIM:260500	Papilloma of choroid plexus		911
HP:0003581	HP:0025708	Early young adult onset	2	TTN CL E G H	7273	12403	OMIM:608807	Muscular dystrophy, limb-girdle, autosomal recessive 10		7128
HP:0003581	HP:0025708	Early young adult onset	2	TWNK CL E G H	56652	1160	OMIM:607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis		113
HP:0003581	HP:0025708	Early young adult onset	2	UNC13D CL E G H	201294	23147	OMIM:608898	HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3; FHL3		116
HP:0003581	HP:0025710	Late young adult onset	2	VAPB CL E G H	9217	12649	OMIM:182980	Spinal muscular atrophy, proximal, adult, autosomal dominantspinal muscular atrophy, late-onset, finkel type, included		116
HP:0003581	HP:0025710	Late young adult onset	2	VCP CL E G H	7415	12666	OMIM:167320	Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 1		63
HP:0003581	HP:0025710	Late young adult onset	2	XRCC1 CL E G H	7515	12828	OMIM:617633	Spinocerebellar ataxia, autosomal recessive 26		4
HP:0003581	HP:0025709	Intermediate young adult onset	2	YARS1 CL E G H	8565	12840	OMIM:608323	Charcot-Marie-Tooth disease, dominant intermediate C

Genes (666) :AAAS AAGAB AARS1 ABCA4 ABCA7 ABCB4 ABCC1 ABCC8 ABCC9 ABCG8 ABHD12 ACTA1 ACTC1 ACTG1 ACTN2 ADGRG2 ADH1C AFG3L2 AGBL1 AIP AKT1 AKT2 ALDH18A1 ALDH5A1 ALG10B ALG5 ALOX5AP AMACR ANKH ANLN ANO3 ANO5 ANXA11 AOPEP APC APOA1 APOE APP APTX AR ARHGEF10 ARMC5 ASTL ATL1 ATN1 ATP11A ATP13A2 ATP1A1 ATP1A2 ATP1A3 ATP2B2 ATP5MC3 ATP6AP2 ATP6V0A1 ATP7B ATXN1 ATXN10 ATXN2 ATXN3 ATXN8OS AUH AURKC B2M BAG3 BAG5 BAP1 BCL10 BEAN1 BLK BLVRA BMPR2 BPGM BPY2 BRCA1 BSCL2 BTNL2 BVES C14ORF39 C19ORF12 C1QBP C2CD6 C3 C9 C9ORF72 CACNA1A CACNA1C CACNB4 CADM3 CAPN3 CARD9 CASK CASQ2 CASR CATIP CATSPER1 CATSPER2 CAV1 CAV3 CC2D2A CCDC34 CCDC39 CCDC62 CCDC88C CCND1 CCNF CD164 CDH1 CDH2 CDH23 CDY1 CDY2A CEBPE CEP78 CFAP43 CFAP44 CFAP58 CFH CFHR1 CFHR3 CFI CHCHD10 CHMP2B CHRNA1 CHRNA2 CLCN1 CLCN2 CLEC3B CLN6 CNBP COCH COL2A1 COL4A1 COL6A3 COQ2 CORIN CP CPOX CPT1C CPT2 CRYAB CSF1R CSRP3 CTNS CTSF CYLD CYP11B1 CYP27A1 CYP7B1 DAZ1 DAZ2 DAZ3 DCTN1 DDX3Y DDX41 DES DGUOK DHTKD1 DIAPH2 DIAPH3 DMD DNAH17 DNAH8 DNAJB11 DNAJB6 DNAJC3 DNAJC30 DNAJC5 DNHD1 DNMT1 DNMT3B DPM3 DPY19L2 DRD5 DSC2 DSG2 DSP DTNA DYSF EEF2 EIF2AK2 EIF2AK4 ELMOD3 ELOVL4 ENG ENO3 ENPP1 EPAS1 EPCAM ERBB4 ERCC6 F2 F5 F8 FAT2 FBLN5 FBN1 FBXO43 FHL1 FHOD3 FIG4 FKBP6 FKTN FLNC FMR1 FN1 FOXC1 FOXE3 FSHB FTL FZD4 G6PD GAA GALC GANAB GARS1 GATAD1 GBA1 GBE1 GBF1 GCGR GCK GCNA GDAP2 GFAP GGCX GGN GIPC1 GJA5 GLUD2 GNAI2 GNAL GNAS GNE GPD2 GPIHBP1 GRN GSN GYG1 H6PD HAMP HAVCR2 HCN4 HFE HGD HINT1 HJV HK1 HKDC1 HLA-DQB1 HLA-DRB1 HMCN1 HMGA1 HNF1A HNF1B HNF4A HNRNPA1 HNRNPDL HPRT1 HSFY1 HSPB1 HSPB3 HSPB8 HTRA1 ICOS IDS IFIH1 IFT140 IFT74 IGF2BP2 IKZF1 IL36RN IL6 IMPG1 IMPG2 INF2 INSR IRS1 IRS2 ITM2B ITPR1 JAG2 JAK2 JPH2 JUP KCNA5 KCNC3 KCND3 KCNE1 KCNE2 KCNH2 KCNJ11 KCNJ18 KCNJ2 KCNJ5 KCNK3 KCNQ1 KCTD17 KDM5D KIF1B KIF5A KLKB1 KNG1 KRAS KRT18 LAMA2 LAMA4 LDB3 LGI1 LHB LIG3 LIG4 LIPC LIPE LITAF LMF1 LMNA LMNB1 LMX1B LRIF1 LRP12 LRP5 LRP6 LRRK2 LYST LZTR1 M1AP MAFA MAFB MAGT1 MAK MAP1B MAPK8IP1 MAPT MARCHF6 MARS1 MARS2 MATR3 MBD4 MCCC1 MCM6 MED25 MEFV MEI1 MEIOB MEN1 MFAP5 MGME1 MICAL1 MLH1 MME MN1 MOCOS MORC2 MOV10L1 MPEG1 MPO MPZ MSH2 MSH3 MSH4 MSH5 MSH6 MTNR1B MTOR MUC1 MYBPC3 MYH6 MYH7 MYL2 MYL4 MYORG MYOT MYPN NAGA NEFH NEK1 NEUROD1 NEXN NF1 NF2 NFKB1 NLRP3 NLRP7 NOL3 NOS3 NOTCH2NLC NOTCH3 NPC1 NPHP1 NPPA NR0B1 NR4A2 NRCAM NTHL1 NUTM2B-AS1 OPTN OSMR OTC PABPN1 PARK7 PARN PATL2 PAX2 PAX4 PDCD1 PDE11A PDGFB PDGFRB PDHA2 PDX1 PHKA1 PIGA PIK3CA PIK3R5 PKD2 PKHD1 PKP2 PLA2G6 PLAU PLD3 PLEKHG5 PLG PLIN1 PLN PMP2 PMP22 PMVK PNKP PNLDC1 PNPLA2 POF1B POLE POLG POLG2 POLRMT POT1 PPARG PPOX PPP1R3A PPP2R3C PRDM16 PRDX3 PRKAG2 PRKAR1A PRKCH PRKCSH PRKG1 PRKN PRKRA PRNP PRPF8 PRPH PRPH2 PRY PRY2 PSAP PSEN1 PSEN2 PTEN PTPN1 PYGM RAB39B RAF1 RAPGEF2 RAX2 RBM20 RBMY1A1 RBP3 RCBTB1 REC114 REEP1 RELN RETN RFC1 RILPL1 RIPOR2 RNF170 RP1 RP2 RPA1 RPGR RPL10L RPS14 RPS4Y2 RRM2B RTEL1 RYR2 SAMD12 SAMD9L SASH3 SCN10A SCN1A SCN1B SCN2B SCN3B SCN4A SCN4B SCN5A SCNN1G SDHA SDHAF2 SDHB SDHC SDHD SEC23B SEC63 SELENBP1 SEMA3A SERPINA1 SERPINA6 SERPING1 SERPINH1 SETX SFRP4 SFTPA1 SGCD SH3BP2 SH3TC2 SHANK3 SHOC1 SLC17A9 SLC19A2 SLC19A3 SLC20A2 SLC22A12 SLC25A13 SLC25A4 SLC26A8 SLC2A2 SLC30A8 SLC34A2 SLC37A4 SLC39A14 SLC44A4 SLC4A11 SLC4A4 SLC7A6OS SLCO2A1 SMAD2 SMAD4 SMARCB1 SMARCE1 SMCHD1 SMN1 SMN2 SMPD1 SMPX SNCA SNCAIP SNORD118 SNTA1 SOCS1 SOD1 SOST SPAG17 SPG11 SPG21 SPG7 SPRY2 SPTLC2 STAG3 STARD7 STAT1 STIM1 STK11 STOX1 STRC STT3A STUB1 SUFU SYCE1 SYCP2 SYCP3 SYNE1 TAF1 TAF4B TARDBP TBC1D24 TBK1 TBP TBX18 TBX3 TCAP TCF7L2 TECRL TERB1 TERB2 TERC TERT TFG TGFBI TGFBR1 TGM6 THAP1 THBD THSD1 THSD4 TIA1 TIE1 TIMP3 TINF2 TLCD3B TLR7 TLR8 TMEM240 TMEM43 TNFAIP3 TNFRSF13C TNNC1 TNNI3 TNNT2 TNPO3 TNRC6A TOP3A TOR1A TOR1AIP1 TP53 TPM1 TRDN TREX1 TRIM32 TRMT5 TRNT TRPC3 TRPV4 TSC1 TSC2 TTBK2 TTC21A TTLL5 TTN TTR TUBB4A TULP3 TWNK TYROBP UBA1 UBQLN2 UNC13D UQCRC1 USP9Y VAMP1 VAPB VCL VCP VCY VHL VPS11 VPS13D VPS16 VSX1 WASHC5 WDR19 WFS1 XK XPR1 XRCC1 XRCC2 YARS1 ZMYND15 ZNF408 ZNF687 ZP1 ZP3 ZPBP ZSWIM7

Diseases (673) :OMIM:231550 OMIM:148600 OMIM:613287 OMIM:619661 OMIM:604116 OMIM:608907 OMIM:600803 OMIM:618915 OMIM:125853 OMIM:614050 OMIM:608569 OMIM:210250 OMIM:612674 OMIM:616852 OMIM:613424 OMIM:612098 OMIM:604717 OMIM:612158 OMIM:300985 OMIM:168600 OMIM:610246 OMIM:615523 OMIM:102200 OMIM:615109 OMIM:601162 OMIM:271980 OMIM:613688 OMIM:620056 OMIM:601367 OMIM:614307 OMIM:118600 OMIM:616032 OMIM:615034 OMIM:613319 OMIM:617839 OMIM:619733 OMIM:619565 OMIM:135290 OMIM:618463 OMIM:104310 OMIM:607822 OMIM:606889 OMIM:603075 OMIM:269600 OMIM:104300 OMIM:208920 OMIM:313200 OMIM:608236 OMIM:615954 OMIM:619643 OMIM:613708 OMIM:125370 OMIM:619810 OMIM:606693 OMIM:617225 OMIM:618036 OMIM:602481 OMIM:128235 OMIM:619804 OMIM:619681 OMIM:300911 OMIM:619971 OMIM:277900 OMIM:164400 OMIM:603516 OMIM:183090 OMIM:109150 OMIM:250950 OMIM:243060 OMIM:241600 OMIM:613881 OMIM:619747 OMIM:606661 OMIM:614327 OMIM:137245 OMIM:117210 OMIM:613375 OMIM:614156 OMIM:178600 OMIM:222800 OMIM:415000 OMIM:604370 OMIM:619112 OMIM:612387 OMIM:616812 OMIM:619203 OMIM:619202 OMIM:614298 OMIM:617713 OMIM:619805 OMIM:612925 OMIM:615591 OMIM:105550 OMIM:141500 OMIM:618447 OMIM:607682 OMIM:613855 OMIM:619519 OMIM:618129 OMIM:212050 OMIM:300908 OMIM:604772 OMIM:601198 OMIM:619379 OMIM:612997 OMIM:606721 OMIM:615343 OMIM:611818 OMIM:606072 OMIM:619845 OMIM:620084 OMIM:613807 OMIM:619803 OMIM:616053 OMIM:254500 OMIM:193300 OMIM:619141 OMIM:616969 OMIM:137215 OMIM:618920 OMIM:617540 OMIM:260570 OMIM:617236 OMIM:617592 OMIM:617593 OMIM:619144 OMIM:610698 OMIM:612923 OMIM:615911 OMIM:615048 OMIM:600795 OMIM:601462 OMIM:610353 OMIM:160800 OMIM:255700 OMIM:615651 OMIM:619977 OMIM:204300 OMIM:602668 OMIM:601369 OMIM:608805 OMIM:618564 OMIM:180000 OMIM:616411 OMIM:146500 OMIM:614595 OMIM:604290 OMIM:121300 OMIM:616282 OMIM:255110 OMIM:615184 OMIM:608810 OMIM:221820 OMIM:607482 OMIM:612124 OMIM:219750 OMIM:615362 OMIM:605041 OMIM:132700 OMIM:619132 OMIM:601606 OMIM:103900 OMIM:213700 OMIM:270800 OMIM:105400 OMIM:607641 OMIM:168605 OMIM:616871 OMIM:604765 OMIM:601419 OMIM:617070 OMIM:615025 OMIM:300511 OMIM:609129 OMIM:300376 OMIM:618643 OMIM:619095 OMIM:618061 OMIM:603511 OMIM:616192 OMIM:619382 OMIM:162350 OMIM:619712 OMIM:604121 OMIM:619478 OMIM:612937 OMIM:613958 OMIM:606798 OMIM:610476 OMIM:610193 OMIM:612877 OMIM:607450 OMIM:604169 OMIM:254130 OMIM:253601 OMIM:609306 OMIM:619687 OMIM:234810 OMIM:619500 OMIM:133190 OMIM:187300 OMIM:612932 OMIM:611783 OMIM:613244 OMIM:615515 OMIM:616946 OMIM:600880 OMIM:614389 OMIM:188055 OMIM:301071 OMIM:617769 OMIM:619764 OMIM:608895 OMIM:129600 OMIM:619696 OMIM:300696 OMIM:300695 OMIM:619402 OMIM:612577 OMIM:620103 OMIM:611615 OMIM:617047 OMIM:609524 OMIM:614065 OMIM:300623 OMIM:311360 OMIM:601894 OMIM:601631 OMIM:617349 OMIM:229070 OMIM:606159 OMIM:133780 OMIM:232300 OMIM:245200 OMIM:600666 OMIM:601472 OMIM:600794 OMIM:614672 OMIM:231000 OMIM:263570 OMIM:606483 OMIM:619290 OMIM:602485 OMIM:301077 OMIM:618369 OMIM:203450 OMIM:610842 OMIM:619826 OMIM:618940 OMIM:614049 OMIM:192605 OMIM:615073 OMIM:219080 OMIM:605820 OMIM:615947 OMIM:614706 OMIM:105120 OMIM:613507 OMIM:616199 OMIM:604931 OMIM:613313 OMIM:618398 OMIM:163800 OMIM:176200 OMIM:203500 OMIM:137200 OMIM:602390 OMIM:617460 OMIM:619614 OMIM:123400 OMIM:126200 OMIM:181000 OMIM:615424 OMIM:609115 OMIM:300322 OMIM:608634 OMIM:613376 OMIM:608673 OMIM:600142 OMIM:616779 OMIM:607594 OMIM:309900 OMIM:182250 OMIM:617781 OMIM:619585 OMIM:616873 OMIM:614204 OMIM:616151 OMIM:616152 OMIM:613237 OMIM:609968 OMIM:616079 OMIM:606658 OMIM:619566 OMIM:263300 OMIM:613873 OMIM:611528 OMIM:612240 OMIM:605259 OMIM:616399 OMIM:613695 OMIM:611493 OMIM:613693 OMIM:613239 OMIM:170390 OMIM:613980 OMIM:613485 OMIM:615344 OMIM:607554 OMIM:616398 OMIM:118210 OMIM:617921 OMIM:612423 OMIM:619363 OMIM:260350 OMIM:215600 OMIM:618138 OMIM:615235 OMIM:601493 OMIM:609452 OMIM:600512 OMIM:228300 OMIM:619780 OMIM:615980 OMIM:601098 OMIM:246650 OMIM:115200 OMIM:181350 OMIM:151660 OMIM:169500 OMIM:256020 OMIM:619477 OMIM:164310 OMIM:610947 OMIM:607060 OMIM:214500 OMIM:615670 OMIM:619108 OMIM:147630 OMIM:166300 OMIM:300853 OMIM:614181 OMIM:619808 OMIM:600274 OMIM:260540 OMIM:601104 OMIM:613608 OMIM:616280 OMIM:611390 OMIM:606070 OMIM:619975 OMIM:606660 OMIM:210200 OMIM:223100 OMIM:605589 OMIM:249100 OMIM:618431 OMIM:617706 OMIM:131100 OMIM:616166 OMIM:615084 OMIM:158320 OMIM:617017 OMIM:617018 OMIM:607174 OMIM:603592 OMIM:616688 OMIM:619878 OMIM:619223 OMIM:607736 OMIM:617100 OMIM:619938 OMIM:108420 OMIM:619937 OMIM:614350 OMIM:607341 OMIM:174000 OMIM:115197 OMIM:615396 OMIM:613252 OMIM:613251 OMIM:613426 OMIM:255160 OMIM:608758 OMIM:617280 OMIM:618317 OMIM:182920 OMIM:609200 OMIM:615248 OMIM:617336 OMIM:609242 OMIM:617892 OMIM:613122 OMIM:613876 OMIM:162210 OMIM:101000 OMIM:162091 OMIM:616576 OMIM:617772 OMIM:148200 OMIM:231090 OMIM:614937 OMIM:619473 OMIM:125310 OMIM:257220 OMIM:266900 OMIM:612201 OMIM:300200 OMIM:619833 OMIM:616415 OMIM:618637 OMIM:613435 OMIM:105250 OMIM:311250 OMIM:164300 OMIM:606324 OMIM:616371 OMIM:617743 OMIM:616002 OMIM:610475 OMIM:213600 OMIM:615007 OMIM:619828 OMIM:300559 OMIM:300818 OMIM:615108 OMIM:615217 OMIM:613095 OMIM:263200 OMIM:609040 OMIM:612953 OMIM:617770 OMIM:615376 OMIM:619360 OMIM:613877 OMIM:609909 OMIM:613874 OMIM:618279 OMIM:162500 OMIM:175800 OMIM:619528 OMIM:610717 OMIM:300604 OMIM:615083 OMIM:157640 OMIM:258450 OMIM:607459 OMIM:610131 OMIM:619743 OMIM:616568 OMIM:615848 OMIM:604367 OMIM:618420 OMIM:615373 OMIM:619862 OMIM:194200 OMIM:610489 OMIM:174050 OMIM:615436 OMIM:600116 OMIM:612067 OMIM:600072 OMIM:137440 OMIM:603218 OMIM:600059 OMIM:608161 OMIM:619491 OMIM:613694 OMIM:613697 OMIM:158350 OMIM:232600 OMIM:311510 OMIM:615916 OMIM:618075 OMIM:620102 OMIM:613172 OMIM:615233 OMIM:617175 OMIM:619176 OMIM:610250 OMIM:614575 OMIM:619790 OMIM:607017 OMIM:608984 OMIM:180100 OMIM:312600 OMIM:619767 OMIM:304020 OMIM:300029 OMIM:619689 OMIM:153550 OMIM:613077 OMIM:616373 OMIM:600996 OMIM:601068 OMIM:619806 OMIM:301082 OMIM:615551 OMIM:609634 OMIM:615377 OMIM:615378 OMIM:613120 OMIM:608390 OMIM:611819 OMIM:614022 OMIM:601154 OMIM:603830 OMIM:618114 OMIM:619259 OMIM:601650 OMIM:115310 OMIM:605373 OMIM:168000 OMIM:224100 OMIM:617004 OMIM:618148 OMIM:614897 OMIM:613490 OMIM:611489 OMIM:106100 OMIM:610504 OMIM:602433 OMIM:265900 OMIM:619611 OMIM:606685 OMIM:118400 OMIM:613353 OMIM:613950 OMIM:619949 OMIM:616063 OMIM:249270 OMIM:607483 OMIM:220150 OMIM:603471 OMIM:609283 OMIM:606766 OMIM:265100 OMIM:619525 OMIM:144755 OMIM:617606 OMIM:217400 OMIM:604278 OMIM:619191 OMIM:167100 OMIM:614441 OMIM:619656 OMIM:158901 OMIM:253400 OMIM:271150 OMIM:607616 OMIM:301075 OMIM:605543 OMIM:614561 OMIM:612955 OMIM:619375 OMIM:269500 OMIM:619380 OMIM:602099 OMIM:604360 OMIM:248900 OMIM:607259 OMIM:616818 OMIM:613640 OMIM:615723 OMIM:607876 OMIM:614162 OMIM:160565 OMIM:609404 OMIM:619714 OMIM:618093 OMIM:616950 OMIM:258150 OMIM:270960 OMIM:610743 OMIM:314250 OMIM:615841 OMIM:612069 OMIM:616044 OMIM:617900 OMIM:616439 OMIM:607136 OMIM:143400 OMIM:181450 OMIM:607487 OMIM:614021 OMIM:619646 OMIM:619645 OMIM:614743 OMIM:613989 OMIM:614742 OMIM:604484 OMIM:121820 OMIM:132800 OMIM:613908 OMIM:602629 OMIM:614486 OMIM:618734 OMIM:619825 OMIM:619133 OMIM:604454 OMIM:619401 OMIM:136900 OMIM:613990 OMIM:619531 OMIM:301080 OMIM:301078 OMIM:607454 OMIM:604400 OMIM:619832 OMIM:614302 OMIM:616744 OMIM:613494 OMIM:611879 OMIM:613243 OMIM:613286 OMIM:611880 OMIM:613690 OMIM:601494 OMIM:115195 OMIM:608423 OMIM:618074 OMIM:618098 OMIM:128100 OMIM:617072 OMIM:260500 OMIM:611878 OMIM:192315 OMIM:254110 OMIM:616539 OMIM:616410 OMIM:606071 OMIM:604432 OMIM:618429 OMIM:615860 OMIM:604145 OMIM:613765 OMIM:608807 OMIM:603689 OMIM:600334 OMIM:105210 OMIM:128101 OMIM:619902 OMIM:609286 OMIM:221770 OMIM:301054 OMIM:300857 OMIM:608898 OMIM:619279 OMIM:108600 OMIM:608627 OMIM:182980 OMIM:611407 OMIM:613255 OMIM:613954 OMIM:167320 OMIM:619637 OMIM:607317 OMIM:619291 OMIM:148300 OMIM:603563 OMIM:619867 OMIM:300842 OMIM:616413 OMIM:617633 OMIM:619146 OMIM:608323 OMIM:615842 OMIM:616469 OMIM:616833 OMIM:615774 OMIM:617712 OMIM:619799 OMIM:619831

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.

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