Human Phenotype Ontology

About
MSeqDR-LSDB
Tools
- Quick-Mitome for WES
- Quick-Mitome
- Quick-Mitome Report
- mtDNA Tool:
- mvTool
- Phy-Mer
- MToolBox
- mvTool for Haplogroup
- mvTool with HmtDB
- MitoMaster
- MitoTIP tRNA Scoring
- MSeq-OpenCGA
- Variant Tool:
- VariantOneStop
- HBCR Exome (Retired)
- POLG Patho. Server
- Data - Awsomics GeEx
- Expert Panel
- Panel Tool:
- Gene Panel Examiner
- Transgenomic_NuclearMitome
- Pedigree Maker
- json2table
Phenome-Disease
Collaboration
- Genesis (GEM.App)
- LeighMap
- Expert Panel
- Collaboration Zone
Submission
- Submit_Interpret_Variant
- Instructions

Hello! Guest! Please Login or Register! Clinician Mode

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:
Onset (HP:0003674)

Parent Node:
Adult onset (HP:0003581)

..Starting node
..Middle age onset (HP:0003596)

Term ID:

3596

Name:

Middle age onset

Synonym:

Definition:

A type of adult onset with onset of symptoms at the age of 40 to 60 years.

Comments:

Reference:

HP:0003596

Genes and Diseases:

Child Nodes:

Sister Nodes:

Late onset (HP:0003584)

Young adult onset (HP:0011462)

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:0003596	HP:0003596	Middle age onset	0	AARS1 CL E G H	16	20	OMIM:613287	Charcot-Marie-Tooth disease, axonal, type 2N
HP:0003596	HP:0003596	Middle age onset	0	ABCC9 CL E G H	10060	60	OMIM:614050	Atrial fibrillation, familial, 12		254
HP:0003596	HP:0003596	Middle age onset	0	ABCC9 CL E G H	10060	60	OMIM:608569	CARDIOMYOPATHY, DILATED, 1O; CMD1O		254
HP:0003596	HP:0003596	Middle age onset	0	ACTC1 CL E G H	70	143	OMIM:613424	Cardiomyopathy, dilated, 1R		208
HP:0003596	HP:0003596	Middle age onset	0	ACTC1 CL E G H	70	143	OMIM:612098	Cardiomyopathy, familial hypertrophic, 11		208
HP:0003596	HP:0003596	Middle age onset	0	ANXA11 CL E G H	311	535	OMIM:617839	Amyotrophic lateral sclerosis 23
HP:0003596	HP:0003596	Middle age onset	0	ANXA11 CL E G H	311	535	OMIM:619733	INCLUSION BODY MYOPATHY AND BRAIN WHITE MATTER ABNORMALITIES; IBMWMA
HP:0003596	HP:0003596	Middle age onset	0	APC CL E G H	324	583	OMIM:135290	Desmoid disease, hereditary		3179
HP:0003596	HP:0003596	Middle age onset	0	APOE CL E G H	348	613	OMIM:606889	Alzheimer disease 4		39
HP:0003596	HP:0003596	Middle age 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:0003596	HP:0003596	Middle age onset	0	ATP2B2 CL E G H	491	815	OMIM:619804	DEAFNESS, AUTOSOMAL DOMINANT 82; DFNA82		5
HP:0003596	HP:0003596	Middle age onset	0	ATP6AP2 CL E G H	10159	18305	OMIM:300911	Parkinsonism with spasticity, X-linked		36
HP:0003596	HP:0003596	Middle age onset	0	ATXN10 CL E G H	25814	10549	OMIM:603516	Spinocerebellar ataxia 10		9
HP:0003596	HP:0003596	Middle age onset	0	BAG3 CL E G H	9531	939	OMIM:613881	Cardiomyopathy, dilated, 1hh		204
HP:0003596	HP:0003596	Middle age onset	0	BAP1 CL E G H	8314	950	OMIM:614327	Tumor predisposition syndrome		184
HP:0003596	HP:0003596	Middle age onset	0	BMPR2 CL E G H	659	1078	OMIM:178600	Pulmonary hypertension, primary, 1		525
HP:0003596	HP:0003596	Middle age onset	0	BRCA1 CL E G H	672	1100	OMIM:604370	Breast-Ovarian cancer, familial, susceptibility to, 1		5769
HP:0003596	HP:0003596	Middle age onset	0	BVES CL E G H	11149	1152	OMIM:616812	Muscular dystrophy, limb-girdle, autosomal recessive 25		2
HP:0003596	HP:0003596	Middle age onset	0	CADM3 CL E G H	57863	17601	OMIM:619519	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2FF; CMT2FF		1
HP:0003596	HP:0003596	Middle age onset	0	CAPN3 CL E G H	825	1480	OMIM:618129	Muscular dystrophy, limb-girdle, autosomal dominant 4		323
HP:0003596	HP:0003596	Middle age onset	0	CASK CL E G H	8573	1497	OMIM:300908	Anemia, nonspherocytic hemolytic, due to g6pd deficiency		118
HP:0003596	HP:0003596	Middle age onset	0	CAV1 CL E G H	857	1527	OMIM:615343	Pulmonary hypertension, primary, 3		11
HP:0003596	HP:0003596	Middle age onset	0	CCNF CL E G H	899	1591	OMIM:619141	FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 5; FTDALS5
HP:0003596	HP:0003596	Middle age onset	0	CDH2 CL E G H	1000	1759	OMIM:618920	ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 14; ARVD14
HP:0003596	HP:0003596	Middle age onset	0	CHCHD10 CL E G H	400916	15559	OMIM:615911	Frontotemporal dementia and/or amyotrophic lateral sclerosis 2		11
HP:0003596	HP:0003596	Middle age onset	0	CHCHD10 CL E G H	400916	15559	OMIM:615048	Spinal muscular atrophy, Jokela type		11
HP:0003596	HP:0003596	Middle age onset	0	CHMP2B CL E G H	25978	24537	OMIM:600795	Frontotemporal dementia and/or amytrophic lateral sclerosis 7		42
HP:0003596	HP:0003596	Middle age onset	0	CHRNA1 CL E G H	1134	1955	OMIM:601462	Myasthenic syndrome, congenital, 1A, slow-channel		74
HP:0003596	HP:0003596	Middle age onset	0	CLCN2 CL E G H	1181	2020	OMIM:615651	Leukoencephalopathy with ataxia		44
HP:0003596	HP:0003596	Middle age onset	0	CLEC3B CL E G H	7123	11891	OMIM:619977
HP:0003596	HP:0003596	Middle age onset	0	CLN6 CL E G H	54982	2077	OMIM:204300	Ceroid lipofuscinosis, neuronal, 4A, autosomal recessive		143
HP:0003596	HP:0003596	Middle age onset	0	CNBP CL E G H	7555	13164	OMIM:602668	Dystrophia myotonica 2		1
HP:0003596	HP:0003596	Middle age onset	0	COL4A1 CL E G H	1282	2202	OMIM:618564	MICROANGIOPATHY AND LEUKOENCEPHALOPATHY, PONTINE, AUTOSOMAL DOMINANT; PADMAL		193
HP:0003596	HP:0003596	Middle age onset	0	CRYAB CL E G H	1410	2389	OMIM:615184	Cardiomyopathy, dilated, 1ii		46
HP:0003596	HP:0003596	Middle age onset	0	CSF1R CL E G H	1436	2433	OMIM:221820	Leukoencephalopathy, diffuse hereditary, with spheroids		149
HP:0003596	HP:0003596	Middle age onset	0	CYLD CL E G H	1540	2584	OMIM:619132	FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 8; FTDALS8		126
HP:0003596	HP:0003596	Middle age onset	0	CYP7B1 CL E G H	9420	2652	OMIM:270800	Spastic paraplegia 5A, autosomal recessive		57
HP:0003596	HP:0003596	Middle age onset	0	DRD5 CL E G H	1816	3026	OMIM:606798	Blepharospasm, benign essential, susceptibility to	.	3
HP:0003596	HP:0003596	Middle age onset	0	DSC2 CL E G H	1824	3036	OMIM:610476	Arrhythmogenic right ventricular dysplasia, familial, 11		268
HP:0003596	HP:0003596	Middle age onset	0	DSG2 CL E G H	1829	3049	OMIM:610193	Arrhythmogenic right ventricular dysplasia, familial, 10		358
HP:0003596	HP:0003596	Middle age onset	0	EIF2AK4 CL E G H	440275	19687	OMIM:234810	PULMONARY VENOOCCLUSIVE DISEASE 2, AUTOSOMAL RECESSIVE; PVOD2		40
HP:0003596	HP:0003596	Middle age onset	0	ELOVL4 CL E G H	6785	14415	OMIM:133190	Spinocerebellar ataxia 34		62
HP:0003596	HP:0003596	Middle age onset	0	EPCAM CL E G H	4072	11529	OMIM:613244	Colorectal cancer, hereditary nonpolyposis, type 8		170
HP:0003596	HP:0003596	Middle age onset	0	ERBB4 CL E G H	2066	3432	OMIM:615515	Amyotrophic lateral sclerosis 19		15
HP:0003596	HP:0003596	Middle age onset	0	FBLN5 CL E G H	10516	3602	OMIM:608895	Macular degeneration, age-related, 3		63
HP:0003596	HP:0003596	Middle age onset	0	FBN1 CL E G H	2200	3603	OMIM:129600	ECTOPIA LENTIS 1, ISOLATED, AUTOSOMAL DOMINANT; ECTOL1		1361
HP:0003596	HP:0003596	Middle age onset	0	FKTN CL E G H	2218	3622	OMIM:611615	Cardiomyopathy, dilated, 1X		184
HP:0003596	HP:0003596	Middle age onset	0	FLNC CL E G H	2318	3756	OMIM:617047	Cardiomyopathy, familial hypertrophic, 26		197
HP:0003596	HP:0003596	Middle age onset	0	FTL CL E G H	2512	3999	OMIM:606159	Neurodegeneration with brain iron accumulation 3		33
HP:0003596	HP:0003596	Middle age onset	0	G6PD CL E G H	2539	4057	OMIM:300908	Anemia, nonspherocytic hemolytic, due to g6pd deficiency		101
HP:0003596	HP:0003596	Middle age onset	0	GANAB CL E G H	23193	4138	OMIM:600666	Polycystic kidney disease 3		6
HP:0003596	HP:0003596	Middle age onset	0	GATAD1 CL E G H	57798	29941	OMIM:614672	Cardiomyopathy, dilated, 2B		35
HP:0003596	HP:0003596	Middle age onset	0	GBE1 CL E G H	2632	4180	OMIM:263570	Polyglucosan body neuropathy, adult form		86
HP:0003596	HP:0003596	Middle age onset	0	GBF1 CL E G H	8729	4181	OMIM:606483	Charcot-Marie-Tooth disease, dominant intermediate A
HP:0003596	HP:0003596	Middle age onset	0	GJA5 CL E G H	2702	4279	OMIM:614049	Atrial fibrillation, familial, 11		39
HP:0003596	HP:0003596	Middle age onset	0	GYG1 CL E G H	2992	4699	OMIM:616199	Polyglucosan body myopathy 2		18
HP:0003596	HP:0003596	Middle age onset	0	H6PD CL E G H	9563	4795	OMIM:604931	Cortisone reductase deficiency 1		8
HP:0003596	HP:0003596	Middle age onset	0	HAVCR2 CL E G H	84868	18437	OMIM:618398	T-CELL LYMPHOMA, SUBCUTANEOUS PANNICULITIS-LIKE
HP:0003596	HP:0003596	Middle age onset	0	HKDC1 CL E G H	80201	23302	OMIM:619614	RETINITIS PIGMENTOSA 92; RP92		2
HP:0003596	HP:0003596	Middle age onset	0	HLA-DQB1 CL E G H	3119	4944	OMIM:123400	Creutzfeldt-Jakob disease
HP:0003596	HP:0003596	Middle age 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:0003596	HP:0003596	Middle age onset	0	HTRA1 CL E G H	5654	9476	OMIM:600142	Autosomal recessive cerebral arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL)		34
HP:0003596	HP:0003596	Middle age onset	0	HTRA1 CL E G H	5654	9476	OMIM:616779	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2		34
HP:0003596	HP:0003596	Middle age onset	0	IKZF1 CL E G H	10320	13176	OMIM:616873	IMMUNODEFICIENCY, COMMON VARIABLE, 13; CVID13		8
HP:0003596	HP:0003596	Middle age onset	0	IMPG2 CL E G H	50939	18362	OMIM:616152	Macular dystrophy, vitelliform, 5		120
HP:0003596	HP:0003596	Middle age onset	0	ITM2B CL E G H	9445	6174	OMIM:616079	Retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities		3
HP:0003596	HP:0003596	Middle age onset	0	JAK2 CL E G H	3717	6192	OMIM:263300	Polycythemia vera		57
HP:0003596	HP:0003596	Middle age onset	0	KCNA5 CL E G H	3741	6224	OMIM:612240	Atrial fibrillation, familial, 7		38
HP:0003596	HP:0003596	Middle age onset	0	KCNC3 CL E G H	3748	6235	OMIM:605259	Spinocerebellar ataxia 13		17
HP:0003596	HP:0003596	Middle age onset	0	KCND3 CL E G H	3752	6239	OMIM:616399	Brugada syndrome 9		35
HP:0003596	HP:0003596	Middle age onset	0	KCNE2 CL E G H	9992	6242	OMIM:611493	ATRIAL FIBRILLATION, FAMILIAL, 4; ATFB4		43
HP:0003596	HP:0003596	Middle age onset	0	KCNJ18 CL E G H	100134444	39080	OMIM:613239	Thyrotoxic periodic paralysis, susceptibility to, 2		10
HP:0003596	HP:0003596	Middle age onset	0	KCNJ2 CL E G H	3759	6263	OMIM:613980	Atrial fibrillation, familial, 9		193
HP:0003596	HP:0003596	Middle age onset	0	KCNK3 CL E G H	3777	6278	OMIM:615344	Pulmonary hypertension, primary, 4		7
HP:0003596	HP:0003596	Middle age onset	0	KCNQ1 CL E G H	3784	6294	OMIM:607554	Atrial fibrillation, familial, 3		730
HP:0003596	HP:0003596	Middle age onset	0	KIF1B CL E G H	23095	16636	OMIM:118210	Charcot-Marie-Tooth disease, axonal, type 2A1		202
HP:0003596	HP:0003596	Middle age onset	0	KIF5A CL E G H	3798	6323	OMIM:617921	Amyotrophic lateral sclerosis, susceptibility to, 25		93
HP:0003596	HP:0003596	Middle age onset	0	KNG1 CL E G H	3827	6383	OMIM:619363	ANGIOEDEMA, HEREDITARY, 6; HAE6		7
HP:0003596	HP:0003596	Middle age onset	0	LAMA4 CL E G H	3910	6484	OMIM:615235	Cardiomyopathy, dilated, 1jj		279
HP:0003596	HP:0003596	Middle age onset	0	LGI1 CL E G H	9211	6572	OMIM:600512	EPILEPSY, FAMILIAL TEMPORAL LOBE, 1; ETL1		75
HP:0003596	HP:0003596	Middle age onset	0	LITAF CL E G H	9516	16841	OMIM:601098	Charcot-Marie-Tooth disease, demyelinating, type 1C		74
HP:0003596	HP:0003596	Middle age onset	0	LMNA CL E G H	4000	6636	OMIM:115200	Cardiomyopathy, dilated, 1A		645
HP:0003596	HP:0003596	Middle age onset	0	LMX1B CL E G H	4010	6654	OMIM:256020	NAIL-PATELLA-LIKE RENAL DISEASE		165
HP:0003596	HP:0003596	Middle age onset	0	LRIF1 CL E G H	55791	30299	OMIM:619477	FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 3, DIGENIC; FSHD3
HP:0003596	HP:0003596	Middle age onset	0	LRP12 CL E G H	29967	31708	OMIM:164310	Oculopharyngodistal myopathy 1
HP:0003596	HP:0003596	Middle age onset	0	MAFA CL E G H	389692	23145	OMIM:147630	Insulinomatosis and diabetes mellitus
HP:0003596	HP:0003596	Middle age onset	0	MAK CL E G H	4117	6816	OMIM:614181	Retinitis pigmentosa 62		53
HP:0003596	HP:0003596	Middle age onset	0	MAP1B CL E G H	4131	6836	OMIM:619808	DEAFNESS, AUTOSOMAL DOMINANT 83; DFNA83
HP:0003596	HP:0003596	Middle age onset	0	MAPT CL E G H	4137	6893	OMIM:600274	Frontotemporal dementia		140
HP:0003596	HP:0003596	Middle age onset	0	MARS1 CL E G H	4141	6898	OMIM:616280	Charcot-Marie-Tooth disease, axonal, type 2U
HP:0003596	HP:0003596	Middle age onset	0	MARS2 CL E G H	92935	25133	OMIM:611390	Spastic ataxia 3, autosomal recessive		25
HP:0003596	HP:0003596	Middle age onset	0	MATR3 CL E G H	9782	6912	OMIM:606070	Amyotrophic lateral sclerosis 21		80
HP:0003596	HP:0003596	Middle age onset	0	MBD4 CL E G H	8930	6919	OMIM:619975			1
HP:0003596	HP:0003596	Middle age onset	0	MICAL1 CL E G H	64780	20619	OMIM:600512	EPILEPSY, FAMILIAL TEMPORAL LOBE, 1; ETL1
HP:0003596	HP:0003596	Middle age onset	0	MLH1 CL E G H	4292	7127	OMIM:158320	Muir-Torre syndrome		1819
HP:0003596	HP:0003596	Middle age onset	0	MME CL E G H	4311	7154	OMIM:617018	SPINOCEREBELLAR ATAXIA 43; SCA43		18
HP:0003596	HP:0003596	Middle age onset	0	MOCOS CL E G H	55034	18234	OMIM:603592	Xanthinuria, type II		4
HP:0003596	HP:0003596	Middle age onset	0	MPZ CL E G H	4359	7225	OMIM:607736	Charcot-Marie-Tooth disease, type 2J		134
HP:0003596	HP:0003596	Middle age onset	0	MSH2 CL E G H	4436	7325	OMIM:158320	Muir-Torre syndrome		2162
HP:0003596	HP:0003596	Middle age onset	0	MSH3 CL E G H	4437	7326	OMIM:617100	Familial adenomatous polyposis 4		5
HP:0003596	HP:0003596	Middle age onset	0	MYH6 CL E G H	4624	7576	OMIM:613252	Cardiomyopathy, dilated, 1ee		452
HP:0003596	HP:0003596	Middle age onset	0	MYORG CL E G H	57462	19918	OMIM:618317	Basal ganglia calcification, idiopathic, 7, autosomal recessive
HP:0003596	HP:0003596	Middle age onset	0	MYPN CL E G H	84665	23246	OMIM:615248	Cardiomyopathy, dilated, 1kk		217
HP:0003596	HP:0003596	Middle age onset	0	MYPN CL E G H	84665	23246	OMIM:617336	Nemaline myopathy 11, autosomal recessive		217
HP:0003596	HP:0003596	Middle age onset	0	NEK1 CL E G H	4750	7744	OMIM:617892	Amyotrophic lateral sclerosis, susceptibility to, 24		101
HP:0003596	HP:0003596	Middle age onset	0	NEXN CL E G H	91624	29557	OMIM:613122	Cardiomyopathy, dilated, 1cc		167
HP:0003596	HP:0003596	Middle age onset	0	NF1 CL E G H	4763	7765	OMIM:162210	Neurofibromatosis, familial spinal		1952
HP:0003596	HP:0003596	Middle age onset	0	NOTCH2NLC CL E G H	100996717	53924	OMIM:619473	OCULOPHARYNGODISTAL MYOPATHY 3; OPDM3
HP:0003596	HP:0003596	Middle age onset	0	NOTCH3 CL E G H	4854	7883	OMIM:125310	Cerebral arteriopathy, autosomal dominant, with subcortical infarctsand leukoencephalopathy		144
HP:0003596	HP:0003596	Middle age onset	0	NPPA CL E G H	4878	7939	OMIM:612201	Atrial fibrillation, familial, 6		13
HP:0003596	HP:0003596	Middle age onset	0	OPTN CL E G H	10133	17142	OMIM:613435	Amyotrophic lateral sclerosis 12		62
HP:0003596	HP:0003596	Middle age onset	0	PDGFRB CL E G H	5159	8804	OMIM:615007	Basal ganglia calcification, idiopathic, 4		28
HP:0003596	HP:0003596	Middle age onset	0	PHKA1 CL E G H	5255	8925	OMIM:300559	Muscle glycogenosis, X-linked		54
HP:0003596	HP:0003596	Middle age onset	0	PKD2 CL E G H	5311	9009	OMIM:613095	Polycystic kidney disease 2		106
HP:0003596	HP:0003596	Middle age onset	0	PKHD1 CL E G H	5314	9016	OMIM:263200	Polycystic kidney disease 4 with or without polycystic liver disease		563
HP:0003596	HP:0003596	Middle age onset	0	PLEKHG5 CL E G H	57449	29105	OMIM:615376	Charcot-Marie-Tooth disease, recessive intermediate C		186
HP:0003596	HP:0003596	Middle age onset	0	PLN CL E G H	5350	9080	OMIM:613874	Cardiomyopathy, familial hypertrophic, 18		57
HP:0003596	HP:0003596	Middle age onset	0	POLG CL E G H	5428	9179	OMIM:157640	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1		464
HP:0003596	HP:0003596	Middle age onset	0	POLG CL E G H	5428	9179	OMIM:258450	Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal recessive		464
HP:0003596	HP:0003596	Middle age onset	0	POLRMT CL E G H	5442	9200	OMIM:619743	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 55; COXPD55		1
HP:0003596	HP:0003596	Middle age onset	0	PRKN CL E G H	5071	8607	OMIM:600116	Parkinson disease, juvenile, type 2		138
HP:0003596	HP:0003596	Middle age onset	0	PRNP CL E G H	5621	9449	OMIM:123400	Creutzfeldt-Jakob disease		69
HP:0003596	HP:0003596	Middle age onset	0	PSAP CL E G H	5660	9498	OMIM:619491	PARKINSON DISEASE 24, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO; PARK24		81
HP:0003596	HP:0003596	Middle age onset	0	PSEN1 CL E G H	5663	9508	OMIM:613694	Cardiomyopathy, dilated, 1U		241
HP:0003596	HP:0003596	Middle age onset	0	PSEN1 CL E G H	5663	9508	OMIM:600274	Frontotemporal dementia		241
HP:0003596	HP:0003596	Middle age onset	0	PSEN2 CL E G H	5664	9509	OMIM:606889	Alzheimer disease 4		59
HP:0003596	HP:0003596	Middle age onset	0	PSEN2 CL E G H	5664	9509	OMIM:613697	Cardiomyopathy, dilated, 1V		59
HP:0003596	HP:0003596	Middle age onset	0	PYGM CL E G H	5837	9726	OMIM:232600	Glycogen storage disease V		166
HP:0003596	HP:0003596	Middle age onset	0	RAB39B CL E G H	116442	16499	OMIM:311510	Waisman syndrome		34
HP:0003596	HP:0003596	Middle age onset	0	RAF1 CL E G H	5894	9829	OMIM:615916	Cardiomyopathy, dilated, 1nn		212
HP:0003596	HP:0003596	Middle age onset	0	RAX2 CL E G H	84839	18286	OMIM:620102			52
HP:0003596	HP:0003596	Middle age onset	0	REEP1 CL E G H	65055	25786	OMIM:610250	Spastic paraplegia 31, autosomal dominant		87
HP:0003596	HP:0003596	Middle age onset	0	RELN CL E G H	5649	9957	OMIM:600512	EPILEPSY, FAMILIAL TEMPORAL LOBE, 1; ETL1		334
HP:0003596	HP:0003596	Middle age onset	0	RIPOR2 CL E G H	9750	13872	OMIM:607017	Deafness, autosomal dominant 21		1
HP:0003596	HP:0003596	Middle age onset	0	RPA1 CL E G H	6117	10289	OMIM:619767	PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 6; PFBMFT6
HP:0003596	HP:0003596	Middle age onset	0	RPGR CL E G H	6103	10295	OMIM:300029	Retinitis pigmentosa 3		200
HP:0003596	HP:0003596	Middle age onset	0	RRM2B CL E G H	50484	17296	OMIM:613077	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5		125
HP:0003596	HP:0003596	Middle age onset	0	SAMD9L CL E G H	219285	1349	OMIM:619806	SPINOCEREBELLAR ATAXIA 49; SCA49		4
HP:0003596	HP:0003596	Middle age onset	0	SCN1B CL E G H	6324	10586	OMIM:615377	Atrial fibrillation, familial, 13		126
HP:0003596	HP:0003596	Middle age onset	0	SCN2B CL E G H	6327	10589	OMIM:615378	Atrial fibrillation, familial, 14		21
HP:0003596	HP:0003596	Middle age onset	0	SCN3B CL E G H	55800	20665	OMIM:613120	Brugada syndrome 7		122
HP:0003596	HP:0003596	Middle age onset	0	SCN5A CL E G H	6331	10593	OMIM:614022	Atrial fibrillation, familial, 10		1134
HP:0003596	HP:0003596	Middle age onset	0	SDHA CL E G H	6389	10680	OMIM:619259	NEURODEGENERATION WITH ATAXIA AND LATE-ONSET OPTIC ATROPHY; NDAXOA		304
HP:0003596	HP:0003596	Middle age onset	0	SEC23B CL E G H	10483	10702	OMIM:224100	Anemia, dyserythropoietic congenital, type II		60
HP:0003596	HP:0003596	Middle age onset	0	SFTPA1 CL E G H	653509	10798	OMIM:619611	INTERSTITIAL LUNG DISEASE 1; ILD1		19
HP:0003596	HP:0003596	Middle age onset	0	SLC37A4 CL E G H	2542	4061	OMIM:619525	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw; CDG2W		110
HP:0003596	HP:0003596	Middle age onset	0	SMPD1 CL E G H	6609	11120	OMIM:607616	Niemann-pick disease, type B		164
HP:0003596	HP:0003596	Middle age onset	0	SMPX CL E G H	23676	11122	OMIM:301075	MYOPATHY, DISTAL, 7, ADULT-ONSET, X-LINKED; MPD7		12
HP:0003596	HP:0003596	Middle age onset	0	SNCA CL E G H	6622	11138	OMIM:605543	Parkinson disease 4	.	65
HP:0003596	HP:0003596	Middle age onset	0	SNORD118 CL E G H	727676	32952	OMIM:614561	Leukoencephalopathy, brain calcifications, and cysts		6
HP:0003596	HP:0003596	Middle age onset	0	SOCS1 CL E G H	8651	19383	OMIM:619375	AUTOINFLAMMATORY SYNDROME, FAMILIAL, WITH OR WITHOUT IMMUNODEFICIENCY; AISIMD		6
HP:0003596	HP:0003596	Middle age onset	0	SPTLC2 CL E G H	9517	11278	OMIM:613640	Neuropathy, hereditary sensory and autonomic, type IC		149
HP:0003596	HP:0003596	Middle age onset	0	STT3A CL E G H	3703	6172	OMIM:619714	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iw, AUTOSOMAL DOMINANT; CDG1WAD		21
HP:0003596	HP:0003596	Middle age onset	0	TBK1 CL E G H	29110	11584	OMIM:617900	Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8		20
HP:0003596	HP:0003596	Middle age onset	0	TBP CL E G H	6908	11588	OMIM:607136	Spinocerebellar ataxia 17		7
HP:0003596	HP:0003596	Middle age onset	0	TBX18 CL E G H	9096	11595	OMIM:143400	Congenital anomalies of kidney and urinary tract 2		5
HP:0003596	HP:0003596	Middle age onset	0	TERT CL E G H	7015	11730	OMIM:613989	Dyskeratosis congenita, autosomal dominant 2		238
HP:0003596	HP:0003596	Middle age onset	0	TGFBI CL E G H	7045	11771	OMIM:121820	Corneal dystrophy, epithelial basement membrane		58
HP:0003596	HP:0003596	Middle age onset	0	TGM6 CL E G H	343641	16255	OMIM:613908	Spinocerebellar ataxia 35		58
HP:0003596	HP:0003596	Middle age onset	0	THSD1 CL E G H	55901	17754	OMIM:618734	ANEURYSM, INTRACRANIAL BERRY, 12; ANIB12		2
HP:0003596	HP:0003596	Middle age onset	0	THSD4 CL E G H	79875	25835	OMIM:619825	AORTIC ANEURYSM, FAMILIAL THORACIC 12; AAT12		2
HP:0003596	HP:0003596	Middle age onset	0	TIA1 CL E G H	7072	11802	OMIM:619133	AMYOTROPHIC LATERAL SCLEROSIS 26 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA; ALS26		5
HP:0003596	HP:0003596	Middle age onset	0	TMEM240 CL E G H	339453	25186	OMIM:607454	Spinocerebellar ataxia 21		9
HP:0003596	HP:0003596	Middle age onset	0	TNNC1 CL E G H	7134	11943	OMIM:611879	CARDIOMYOPATHY, DILATED, 1Z; CMD1Z		73
HP:0003596	HP:0003596	Middle age onset	0	TNNC1 CL E G H	7134	11943	OMIM:613243	Cardiomyopathy, familial hypertrophic, 13		73
HP:0003596	HP:0003596	Middle age onset	0	TNNI3 CL E G H	7137	11947	OMIM:613286	Cardiomyopathy, dilated, 1ff		180
HP:0003596	HP:0003596	Middle age onset	0	TNNT2 CL E G H	7139	11949	OMIM:601494	Cardiomyopathy, dilated, 1D		248
HP:0003596	HP:0003596	Middle age onset	0	TNNT2 CL E G H	7139	11949	OMIM:115195	Cardiomyopathy, familial hypertrophic, 2		248
HP:0003596	HP:0003596	Middle age onset	0	TOR1A CL E G H	1861	3098	OMIM:128100	Dystonia 1, torsion, autosomal dominant		47
HP:0003596	HP:0003596	Middle age onset	0	TPM1 CL E G H	7168	12010	OMIM:611878	Cardiomyopathy, dilated, 1Y		230
HP:0003596	HP:0003596	Middle age onset	0	TTLL5 CL E G H	23093	19963	OMIM:615860	Cone-Rod dystrophy 19		9
HP:0003596	HP:0003596	Middle age onset	0	TTN CL E G H	7273	12403	OMIM:604145	CARDIOMYOPATHY, DILATED, 1G; CMD1G		7128
HP:0003596	HP:0003596	Middle age onset	0	UBA1 CL E G H	7317	12469	OMIM:301054	VEXAS SYNDROME; VEXAS		35
HP:0003596	HP:0003596	Middle age onset	0	UQCRC1 CL E G H	7384	12585	OMIM:619279	PARKINSONISM WITH POLYNEUROPATHY; PKNPY
HP:0003596	HP:0003596	Middle age onset	0	VAPB CL E G H	9217	12649	OMIM:608627	Amyotrophic lateral sclerosis 8		116
HP:0003596	HP:0003596	Middle age 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:0003596	HP:0003596	Middle age onset	0	VCL CL E G H	7414	12665	OMIM:611407	CARDIOMYOPATHY, DILATED, 1W; CMD1W		248
HP:0003596	HP:0003596	Middle age onset	0	VCL CL E G H	7414	12665	OMIM:613255	Cardiomyopathy, familial hypertrophic, 15		248
HP:0003596	HP:0003596	Middle age onset	0	VCP CL E G H	7415	12666	OMIM:613954	Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia		63
HP:0003596	HP:0003596	Middle age 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:0003596	HP:0003596	Middle age onset	0	VPS16 CL E G H	64601	14584	OMIM:619291	DYSTONIA 30; DYT30
HP:0003596	HP:0003596	Middle age onset	0	ZNF408 CL E G H	79797	20041	OMIM:616469	Retinitis pigmentosa 72		14

Genes (168) :AARS1 ABCC9 ACTC1 ANXA11 APC APOE ATN1 ATP2B2 ATP6AP2 ATXN10 BAG3 BAP1 BMPR2 BRCA1 BVES CADM3 CAPN3 CASK CAV1 CCNF CDH2 CHCHD10 CHMP2B CHRNA1 CLCN2 CLEC3B CLN6 CNBP COL4A1 CRYAB CSF1R CYLD CYP7B1 DRD5 DSC2 DSG2 EIF2AK4 ELOVL4 EPCAM ERBB4 FBLN5 FBN1 FKTN FLNC FTL G6PD GANAB GATAD1 GBE1 GBF1 GJA5 GYG1 H6PD HAVCR2 HKDC1 HLA-DQB1 HNRNPA1 HTRA1 IKZF1 IMPG2 ITM2B JAK2 KCNA5 KCNC3 KCND3 KCNE2 KCNJ18 KCNJ2 KCNK3 KCNQ1 KIF1B KIF5A KNG1 LAMA4 LGI1 LITAF LMNA LMX1B LRIF1 LRP12 MAFA MAK MAP1B MAPT MARS1 MARS2 MATR3 MBD4 MICAL1 MLH1 MME MOCOS MPZ MSH2 MSH3 MYH6 MYORG MYPN NEK1 NEXN NF1 NOTCH2NLC NOTCH3 NPPA OPTN PDGFRB PHKA1 PKD2 PKHD1 PLEKHG5 PLN POLG POLRMT PRKN PRNP PSAP PSEN1 PSEN2 PYGM RAB39B RAF1 RAX2 REEP1 RELN RIPOR2 RPA1 RPGR RRM2B SAMD9L SCN1B SCN2B SCN3B SCN5A SDHA SEC23B SFTPA1 SLC37A4 SMPD1 SMPX SNCA SNORD118 SOCS1 SPTLC2 STT3A TBK1 TBP TBX18 TERT TGFBI TGM6 THSD1 THSD4 TIA1 TMEM240 TNNC1 TNNI3 TNNT2 TOR1A TPM1 TTLL5 TTN UBA1 UQCRC1 VAPB VCL VCP VPS16 ZNF408

Diseases (175) :OMIM:613287 OMIM:614050 OMIM:608569 OMIM:613424 OMIM:612098 OMIM:617839 OMIM:619733 OMIM:135290 OMIM:606889 OMIM:125370 OMIM:619804 OMIM:300911 OMIM:603516 OMIM:613881 OMIM:614327 OMIM:178600 OMIM:604370 OMIM:616812 OMIM:619519 OMIM:618129 OMIM:300908 OMIM:615343 OMIM:619141 OMIM:618920 OMIM:615911 OMIM:615048 OMIM:600795 OMIM:601462 OMIM:615651 OMIM:619977 OMIM:204300 OMIM:602668 OMIM:618564 OMIM:615184 OMIM:221820 OMIM:619132 OMIM:270800 OMIM:606798 OMIM:610476 OMIM:610193 OMIM:234810 OMIM:133190 OMIM:613244 OMIM:615515 OMIM:608895 OMIM:129600 OMIM:611615 OMIM:617047 OMIM:606159 OMIM:600666 OMIM:614672 OMIM:263570 OMIM:606483 OMIM:614049 OMIM:616199 OMIM:604931 OMIM:618398 OMIM:619614 OMIM:123400 OMIM:615424 OMIM:600142 OMIM:616779 OMIM:616873 OMIM:616152 OMIM:616079 OMIM:263300 OMIM:612240 OMIM:605259 OMIM:616399 OMIM:611493 OMIM:613239 OMIM:613980 OMIM:615344 OMIM:607554 OMIM:118210 OMIM:617921 OMIM:619363 OMIM:615235 OMIM:600512 OMIM:601098 OMIM:115200 OMIM:256020 OMIM:619477 OMIM:164310 OMIM:147630 OMIM:614181 OMIM:619808 OMIM:600274 OMIM:616280 OMIM:611390 OMIM:606070 OMIM:619975 OMIM:158320 OMIM:617018 OMIM:603592 OMIM:607736 OMIM:617100 OMIM:613252 OMIM:618317 OMIM:615248 OMIM:617336 OMIM:617892 OMIM:613122 OMIM:162210 OMIM:619473 OMIM:125310 OMIM:612201 OMIM:613435 OMIM:615007 OMIM:300559 OMIM:613095 OMIM:263200 OMIM:615376 OMIM:613874 OMIM:157640 OMIM:258450 OMIM:619743 OMIM:600116 OMIM:619491 OMIM:613694 OMIM:613697 OMIM:232600 OMIM:311510 OMIM:615916 OMIM:620102 OMIM:610250 OMIM:607017 OMIM:619767 OMIM:300029 OMIM:613077 OMIM:619806 OMIM:615377 OMIM:615378 OMIM:613120 OMIM:614022 OMIM:619259 OMIM:224100 OMIM:619611 OMIM:619525 OMIM:607616 OMIM:301075 OMIM:605543 OMIM:614561 OMIM:619375 OMIM:613640 OMIM:619714 OMIM:617900 OMIM:607136 OMIM:143400 OMIM:613989 OMIM:121820 OMIM:613908 OMIM:618734 OMIM:619825 OMIM:619133 OMIM:607454 OMIM:611879 OMIM:613243 OMIM:613286 OMIM:601494 OMIM:115195 OMIM:128100 OMIM:611878 OMIM:615860 OMIM:604145 OMIM:301054 OMIM:619279 OMIM:608627 OMIM:182980 OMIM:611407 OMIM:613255 OMIM:613954 OMIM:167320 OMIM:619291 OMIM:616469

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

Feedback about the webpages , or email to MSeqDR webmaster: Lishuang Shen