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