Human Phenotype Ontology 
Grandparent Node:
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Behavioral abnormality (HP:0000708)help
Parent Node:
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Impairment in personality functioning (HP:0031466)help
..Starting node
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Depression (HP:0000716)help
Term ID: 716
Name: Depression
Synonym: Depression; Depressive disorder; Depressivity
Definition: Frequent feelings of being down, miserable, and/or hopeless; difficulty recovering from such moods; pessimism about the future; pervasive shame; feeling of inferior self-worth; thoughts of suicide and suicidal behavior.
Comments:
Reference: HP:0000716
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAbnormal fear/anxiety-related behavior (HP:0100852) help
..expandAnhedonia (HP:0012154) help
..expandBipolar affective disorder (HP:0007302) help
..expandDisinhibition (HP:0000734) help
..expandEmotional lability (HP:0000712) help
..expandHostility (HP:0031473) help
..expandInappropriate behavior (HP:0000719) help
..expandLow self esteem (HP:0031469) help
..expandNegative affectivity (HP:0031467) help
..expandPersonality disorder (HP:0012075) help
..expandSeparation insecurity (HP:0031468) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0000716HP:0000716Depression0AARS2 CL E G H57505615889Leukoencephalopathy, progressive, with ovarian failure615889C4014588OMIM142921022612035
HP:0000716HP:0000716Depression0AIP CL E G H9049963ORPHA1741358605555
HP:0000716HP:0000716Depression0AMACR CL E G H23600614307Alpha-methylacyl-CoA racemase deficiency614307C3280428OMIM1290451604489
HP:0000716HP:0000716Depression0ANG CL E G H283803ORPHA197483105850
HP:0000716HP:0000716Depression0ANOS1 CL E G H3730432ArbovirosisORPHA14266211300836
HP:0000716HP:0000716Depression0ANXA11 CL E G H311803ORPHA1201535602572
HP:0000716HP:0000716Depression0ARMC5 CL E G H79798189427ORPHA110025781615549
HP:0000716HP:0000716Depression0ARMC5 CL E G H79798615954Acth-independent macronodular adrenal hyperplasia 2615954C4014803OMIM110025781615549
HP:0000716HP:0000716Depression0ATP1A3 CL E G H478128235Dystonia 12128235C1868681OMIM1790801182350
HP:0000716HP:0000716Depression0ATP7B CL E G H540905ORPHA11806870606882
HP:0000716HP:0000716Depression0ATXN10 CL E G H25814603516Spinocerebellar ataxia 10603516C1963674OMIM110810549611150
HP:0000716HP:0000716Depression0ATXN2 CL E G H6311803ORPHA15310555601517
HP:0000716HP:0000716Depression0BAZ1B CL E G H9031904Blepharophimosis nasal groove growth retardationORPHA1196961605681
HP:0000716HP:0000716Depression0BCS1L CL E G H617124000Mitochondrial complex III deficiency124000C1852372OMIM13341020603647
HP:0000716HP:0000716Depression0C19orf12 CL E G H83636614298Neurodegeneration with brain iron accumulation 4614298C3280371OMIM127625443614297
HP:0000716HP:0000716Depression0C9orf72 CL E G H203228100070ORPHA117328337614260
HP:0000716HP:0000716Depression0C9orf72 CL E G H203228275872ORPHA117328337614260
HP:0000716HP:0000716Depression0C9orf72 CL E G H203228803ORPHA117328337614260
HP:0000716HP:0000716Depression0C9orf72 CL E G H203228105550Amyotrophic lateral sclerosis and/or frontotemporal dementia 1105550C1862937OMIM117328337614260
HP:0000716HP:0000716Depression0CACNA1G CL E G H8913458803ORPHA14451394604065
HP:0000716HP:0000716Depression0CACNA1G CL E G H8913616795Spinocerebellar ataxia 42616795C4225205OMIM14451394604065
HP:0000716HP:0000716Depression0CASR CL E G H846428Autosomal dominant hypocalcemiaCN228164ORPHA120391514601199
HP:0000716HP:0000716Depression0CBS CL E G H875236200Homocystinuria due to CBS deficiency236200C3150344OMIM19671550613381
HP:0000716HP:0000716Depression0CCNF CL E G H899803ORPHA11181591600227
HP:0000716HP:0000716Depression0CDH23 CL E G H6407296253ORPHA1360413733605516
HP:0000716HP:0000716Depression0CFAP410 CL E G H755803ORPHA13731260603191
HP:0000716HP:0000716Depression0CHCHD10 CL E G H400916803ORPHA124815559615903
HP:0000716HP:0000716Depression0CHCHD10 CL E G H400916275872ORPHA124815559615903
HP:0000716HP:0000716Depression0CHD7 CL E G H55636432ArbovirosisORPHA1231820626608892
HP:0000716HP:0000716Depression0CHMP2B CL E G H25978803ORPHA114124537609512
HP:0000716HP:0000716Depression0CHMP2B CL E G H25978100070ORPHA114124537609512
HP:0000716HP:0000716Depression0CISD2 CL E G H493856604928Wolfram syndrome 2604928C1858028OMIM14624212611507
HP:0000716HP:0000716Depression0CLCN4 CL E G H1183300114Mental retardation 49, X-linked300114C3887959OMIM15912022302910
HP:0000716HP:0000716Depression0CLIP2 CL E G H7461904Blepharophimosis nasal groove growth retardationORPHA11812586603432
HP:0000716HP:0000716Depression0CLN6 CL E G H54982204300Adult neuronal ceroid lipofuscinosis204300C0022797OMIM15532077606725
HP:0000716HP:0000716Depression0COASY CL E G H80347615643Neurodegeneration with brain iron accumulation 6615643C3810230OMIM117529932609855
HP:0000716HP:0000716Depression0COQ2 CL E G H27235227510ORPHA120525223609825
HP:0000716HP:0000716Depression0COQ2 CL E G H2723598933ORPHA120525223609825
HP:0000716HP:0000716Depression0CP CL E G H135648818ORPHA16552295117700
HP:0000716HP:0000716Depression0CPOX CL E G H137179273ORPHA12072321612732
HP:0000716HP:0000716Depression0CPOX CL E G H1371121300Hereditary coproporphyria121300C0162531OMIM12072321612732
HP:0000716HP:0000716Depression0CSF1R CL E G H1436221820Hereditary diffuse leukoencephalopathy with spheroids221820C3711381OMIM15182433164770
HP:0000716HP:0000716Depression0CTSF CL E G H8722615362Ceroid lipofuscinosis, neuronal, 13615362C3715049OMIM11822531603539
HP:0000716HP:0000716Depression0CYP27A1 CL E G H1593909ORPHA17512605606530
HP:0000716HP:0000716Depression0DAO CL E G H1610803ORPHA1492671124050
HP:0000716HP:0000716Depression0DCTN1 CL E G H1639178509ORPHA18582711601143
HP:0000716HP:0000716Depression0DCTN1 CL E G H1639803ORPHA18582711601143
HP:0000716HP:0000716Depression0DCTN1 CL E G H1639168605Perry syndrome168605C1868594OMIM18582711601143
HP:0000716HP:0000716Depression0DNA2 CL E G H1763352470ORPHA13312939601810
HP:0000716HP:0000716Depression0DNAJC5 CL E G H80331162350Ceroid lipofuscinosis neuronal 4B autosomal dominant162350C1834207OMIM139316235611203
HP:0000716HP:0000716Depression0DNMT1 CL E G H1786604121Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant604121C1858804OMIM19952976126375
HP:0000716HP:0000716Depression0DRD2 CL E G H181336899ORPHA11153023126450
HP:0000716HP:0000716Depression0DUSP6 CL E G H1848432ArbovirosisORPHA1513072602748
HP:0000716HP:0000716Depression0ELN CL E G H2006904Blepharophimosis nasal groove growth retardationORPHA17633327130160
HP:0000716HP:0000716Depression0EPCAM CL E G H4072144ORPHA161311529185535
HP:0000716HP:0000716Depression0EPHA4 CL E G H2043803ORPHA11243388602188
HP:0000716HP:0000716Depression0ERBB4 CL E G H2066803ORPHA13213432600543
HP:0000716HP:0000716Depression0FAN1 CL E G H22909144ORPHA136029170613534
HP:0000716HP:0000716Depression0FGF17 CL E G H8822432ArbovirosisORPHA11003673603725
HP:0000716HP:0000716Depression0FGF8 CL E G H2253432ArbovirosisORPHA1773686600483
HP:0000716HP:0000716Depression0FGFR1 CL E G H2260432ArbovirosisORPHA16883688136350
HP:0000716HP:0000716Depression0FIG4 CL E G H9896803ORPHA174916873609390
HP:0000716HP:0000716Depression0FMO3 CL E G H2328602079Trimethylaminuria602079C0342739OMIM11173771136132
HP:0000716HP:0000716Depression0FMR1 CL E G H233293256ORPHA13383775309550
HP:0000716HP:0000716Depression0FMR1 CL E G H2332300623Fragile X tremor/ataxia syndrome300623C1839780OMIM13383775309550
HP:0000716HP:0000716Depression0FUS CL E G H2521275872ORPHA14094010137070
HP:0000716HP:0000716Depression0FUS CL E G H2521803ORPHA14094010137070
HP:0000716HP:0000716Depression0GBA CL E G H2629231000Subacute neuronopathic Gaucher's disease231000C0268251OMIM14177606463
HP:0000716HP:0000716Depression0GCH1 CL E G H264398808ORPHA13644193600225
HP:0000716HP:0000716Depression0GLE1 CL E G H2733803ORPHA13824315603371
HP:0000716HP:0000716Depression0GNA11 CL E G H2767428Autosomal dominant hypocalcemiaCN228164ORPHA12064379139313
HP:0000716HP:0000716Depression0GNAS CL E G H2778189427ORPHA14454392139320
HP:0000716HP:0000716Depression0GNAS CL E G H2778219080Cushing's syndrome219080C1857451OMIM14454392139320
HP:0000716HP:0000716Depression0GNRH1 CL E G H2796432ArbovirosisORPHA11174419152760
HP:0000716HP:0000716Depression0GNRHR CL E G H2798432ArbovirosisORPHA11824421138850
HP:0000716HP:0000716Depression0GPR101 CL E G H83550963ORPHA119414963300393
HP:0000716HP:0000716Depression0GRN CL E G H2896100070ORPHA14174601138945
HP:0000716HP:0000716Depression0GTF2I CL E G H2969904Blepharophimosis nasal groove growth retardationORPHA11634659601679
HP:0000716HP:0000716Depression0GTF2IRD1 CL E G H9569904Blepharophimosis nasal groove growth retardationORPHA12184661604318
HP:0000716HP:0000716Depression0HBB CL E G H3043231214ORPHA114504827141900
HP:0000716HP:0000716Depression0HMBS CL E G H314579276ORPHA13564982609806
HP:0000716HP:0000716Depression0HMBS CL E G H3145176000Acute intermittent porphyria176000C0162565OMIM13564982609806
HP:0000716HP:0000716Depression0HNRNPA1 CL E G H3178803ORPHA1615031164017
HP:0000716HP:0000716Depression0HS6ST1 CL E G H9394432ArbovirosisORPHA1855201604846
HP:0000716HP:0000716Depression0HTT CL E G H3064248111ORPHA17354851613004
HP:0000716HP:0000716Depression0HTT CL E G H3064143100Huntington's chorea143100C0020179OMIM17354851613004
HP:0000716HP:0000716Depression0IDUA CL E G H342593473ORPHA113135391252800
HP:0000716HP:0000716Depression0JPH3 CL E G H57338606438Huntington disease-like 2606438C1847987OMIM112514203605268
HP:0000716HP:0000716Depression0KCNJ2 CL E G H3759170390Andersen Tawil syndrome170390C1563715OMIM15006263600681
HP:0000716HP:0000716Depression0KCNT1 CL E G H57582615005Epilepsy, nocturnal frontal lobe, 5615005C3554306OMIM1167818865608167
HP:0000716HP:0000716Depression0KCTD17 CL E G H7973436899ORPHA19425705616386
HP:0000716HP:0000716Depression0KCTD17 CL E G H79734616398Dystonia 26, myoclonic616398C4225341OMIM19425705616386
HP:0000716HP:0000716Depression0KISS1 CL E G H3814432ArbovirosisORPHA1446341603286
HP:0000716HP:0000716Depression0KISS1R CL E G H84634432ArbovirosisORPHA11194510604161
HP:0000716HP:0000716Depression0KRAS CL E G H3845144ORPHA14406407190070
HP:0000716HP:0000716Depression0LIMK1 CL E G H3984904Blepharophimosis nasal groove growth retardationORPHA12016613601329
HP:0000716HP:0000716Depression0LMNB1 CL E G H4001169500Leukodystrophy, adult-onset, autosomal dominant169500C1868512OMIM11696637150340
HP:0000716HP:0000716Depression0MAPT CL E G H4137100070ORPHA15146893157140
HP:0000716HP:0000716Depression0MATR3 CL E G H9782803ORPHA13336912164015
HP:0000716HP:0000716Depression0MECP2 CL E G H4204778ORPHA117786990300005
HP:0000716HP:0000716Depression0MECP2 CL E G H4204300260MECP2 duplication syndrome300260C1846058OMIM117786990300005
HP:0000716HP:0000716Depression0MLH1 CL E G H4292144ORPHA148267127120436
HP:0000716HP:0000716Depression0MLH3 CL E G H27030144ORPHA118247128604395
HP:0000716HP:0000716Depression0MSH2 CL E G H4436144ORPHA163747325609309
HP:0000716HP:0000716Depression0MSH6 CL E G H2956144ORPHA177067329600678
HP:0000716HP:0000716Depression0MSTO1 CL E G H55154502423ORPHA18529678617619
HP:0000716HP:0000716Depression0MSTO1 CL E G H55154617675MYOPATHY, MITOCHONDRIAL, AND ATAXIA617675C4540096OMIM18529678617619
HP:0000716HP:0000716Depression0MT-CO1 CL E G H4512550ORPHA17419516030
HP:0000716HP:0000716Depression0MT-CO2 CL E G H4513550ORPHA17421516040
HP:0000716HP:0000716Depression0MT-CO3 CL E G H4514550ORPHA17422516050
HP:0000716HP:0000716Depression0MT-ND1 CL E G H4535550ORPHA17455516000
HP:0000716HP:0000716Depression0MT-ND4 CL E G H4538550ORPHA17459516003
HP:0000716HP:0000716Depression0MT-ND5 CL E G H4540550ORPHA17461516005
HP:0000716HP:0000716Depression0MT-ND6 CL E G H4541550ORPHA17462516006
HP:0000716HP:0000716Depression0MT-TF CL E G H4558550ORPHA17481590070
HP:0000716HP:0000716Depression0MT-TH CL E G H4564550ORPHA17487590040
HP:0000716HP:0000716Depression0MT-TL1 CL E G H4567550ORPHA17490590050
HP:0000716HP:0000716Depression0MT-TQ CL E G H4572550ORPHA17495590030
HP:0000716HP:0000716Depression0MT-TS1 CL E G H4574550ORPHA17497590080
HP:0000716HP:0000716Depression0MT-TS2 CL E G H4575550ORPHA17498590085
HP:0000716HP:0000716Depression0MT-TW CL E G H4578550ORPHA17501590095
HP:0000716HP:0000716Depression0NEFH CL E G H4744803ORPHA14657737162230
HP:0000716HP:0000716Depression0NEK1 CL E G H4750803ORPHA15257744604588
HP:0000716HP:0000716Depression0NOTCH3 CL E G H4854136ORPHA111337883600276
HP:0000716HP:0000716Depression0NR4A2 CL E G H4929168600Parkinson disease, late-onset168600C3160718OMIM11127981601828
HP:0000716HP:0000716Depression0NSMF CL E G H26012432ArbovirosisORPHA114529843608137
HP:0000716HP:0000716Depression0OCRL CL E G H4952534Acute myeloblastic leukemia without maturationORPHA15088108300535
HP:0000716HP:0000716Depression0OPTN CL E G H10133803ORPHA132817142602432
HP:0000716HP:0000716Depression0PAH CL E G H505379254ORPHA113168582612349
HP:0000716HP:0000716Depression0PAH CL E G H5053261600Phenylketonuria261600C0031485OMIM113168582612349
HP:0000716HP:0000716Depression0PANK2 CL E G H80025216873ORPHA137115894606157
HP:0000716HP:0000716Depression0PANK2 CL E G H80025234200Pigmentary pallidal degeneration234200C0018523OMIM137115894606157
HP:0000716HP:0000716Depression0PDE11A CL E G H50940610475Pigmented nodular adrenocortical disease, primary, 2610475C1864851OMIM11508773604961
HP:0000716HP:0000716Depression0PDGFB CL E G H5155213600Idiopathic basal ganglia calcification 1213600C0393590OMIM11058800190040
HP:0000716HP:0000716Depression0PDGFB CL E G H5155615483Idiopathic basal ganglia calcification 5615483C3809645OMIM11058800190040
HP:0000716HP:0000716Depression0PDGFRB CL E G H5159615007Basal ganglia calcification, idiopathic, 4615007C3554321OMIM13458804173410
HP:0000716HP:0000716Depression0PDGFRB CL E G H5159213600Idiopathic basal ganglia calcification 1213600C0393590OMIM13458804173410
HP:0000716HP:0000716Depression0PDGFRB CL E G H5159616592Kosaki overgrowth syndrome616592C4225270OMIM13458804173410
HP:0000716HP:0000716Depression0PER2 CL E G H8864604348Familial advanced sleep phase syndrome 1604348C3807327OMIM11098846603426
HP:0000716HP:0000716Depression0PER3 CL E G H8863616882Advanced sleep phase syndrome, familial, 3616882C4225169OMIM1748847603427
HP:0000716HP:0000716Depression0PFN1 CL E G H5216803ORPHA1878881176610
HP:0000716HP:0000716Depression0PIK3CA CL E G H5290144ORPHA19758975171834
HP:0000716HP:0000716Depression0PINK1 CL E G H65018605909Parkinson disease 6, autosomal recessive early-onset605909C1853833OMIM130114581608309
HP:0000716HP:0000716Depression0PLA2G6 CL E G H8398612953Parkinson disease 14612953C2751842OMIM15989039603604
HP:0000716HP:0000716Depression0PMS1 CL E G H5378144ORPHA1969121600258
HP:0000716HP:0000716Depression0PMS2 CL E G H5395144ORPHA143469122600259
HP:0000716HP:0000716Depression0POLG CL E G H5428157640Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1157640C1834846OMIM119179179174763
HP:0000716HP:0000716Depression0POLG CL E G H5428258450Cerebellar ataxia infantile with progressive external ophthalmoplegia258450C1850303OMIM119179179174763
HP:0000716HP:0000716Depression0POLG CL E G H5428607459Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis607459C1843851OMIM119179179174763
HP:0000716HP:0000716Depression0PON1 CL E G H5444803ORPHA1589204168820
HP:0000716HP:0000716Depression0PON2 CL E G H5445803ORPHA1509205602447
HP:0000716HP:0000716Depression0PON3 CL E G H5446803ORPHA1469206602720
HP:0000716HP:0000716Depression0PPARGC1A CL E G H10891803ORPHA1489237604517
HP:0000716HP:0000716Depression0PPP2R2B CL E G H5521604326Spinocerebellar ataxia 12604326C1858501OMIM1449305604325
HP:0000716HP:0000716Depression0PPT1 CL E G H5538256730Ceroid lipofuscinosis neuronal 1256730C1850451OMIM15169325600722
HP:0000716HP:0000716Depression0PRKACA CL E G H5566615830Pigmented nodular adrenocortical disease, primary, 4615830C4014425OMIM1329380601639
HP:0000716HP:0000716Depression0PRKAR1A CL E G H5573610489Pigmented nodular adrenocortical disease, primary, 1610489C1864846OMIM19169388188830
HP:0000716HP:0000716Depression0PRKCG CL E G H5582605361Spinocerebellar ataxia 14605361C1854369OMIM12909402176980
HP:0000716HP:0000716Depression0PRNP CL E G H5621280397ORPHA11649449176640
HP:0000716HP:0000716Depression0PRNP CL E G H5621282166ORPHA11649449176640
HP:0000716HP:0000716Depression0PRNP CL E G H5621157941ORPHA11649449176640
HP:0000716HP:0000716Depression0PRNP CL E G H5621137440Gerstmann-Straussler-Scheinker syndrome137440C0017495OMIM11649449176640
HP:0000716HP:0000716Depression0PRNP CL E G H5621603218Huntington disease-like 1603218C1864112OMIM11649449176640
HP:0000716HP:0000716Depression0PRNP CL E G H5621123400Jakob-Creutzfeldt disease123400C0022336OMIM11649449176640
HP:0000716HP:0000716Depression0PROK2 CL E G H60675432ArbovirosisORPHA15518455607002
HP:0000716HP:0000716Depression0PROKR2 CL E G H128674432ArbovirosisORPHA113215836607123
HP:0000716HP:0000716Depression0PRPH CL E G H5630803ORPHA1539461170710
HP:0000716HP:0000716Depression0PSEN1 CL E G H5663100070ORPHA14529508104311
HP:0000716HP:0000716Depression0PTPN22 CL E G H26191397Herrmann Opitz arthrogryposis syndromeORPHA1349652600716
HP:0000716HP:0000716Depression0RFC2 CL E G H5982904Blepharophimosis nasal groove growth retardationORPHA11809970600404
HP:0000716HP:0000716Depression0RRM2B CL E G H50484613077Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 5613077C2751319OMIM129317296604712
HP:0000716HP:0000716Depression0SGCE CL E G H891036899ORPHA146110808604149
HP:0000716HP:0000716Depression0SGCE CL E G H8910159900Myoclonic dystonia159900C1834570OMIM146110808604149
HP:0000716HP:0000716Depression0SLC20A2 CL E G H6575213600Idiopathic basal ganglia calcification 1213600C0393590OMIM128110947158378
HP:0000716HP:0000716Depression0SNCA CL E G H6622168601Parkinson disease 1168601C1868595OMIM117711138163890
HP:0000716HP:0000716Depression0SNCAIP CL E G H9627168600Parkinson disease, late-onset168600C3160718OMIM111811139603779
HP:0000716HP:0000716Depression0SOD1 CL E G H6647803ORPHA125311179147450
HP:0000716HP:0000716Depression0SPAST CL E G H6683182601Spastic paraplegia 4, autosomal dominant182601C1866855OMIM1101411233604277
HP:0000716HP:0000716Depression0SPRY4 CL E G H81848432ArbovirosisORPHA14515533607984
HP:0000716HP:0000716Depression0SQSTM1 CL E G H8878803ORPHA154211280601530
HP:0000716HP:0000716Depression0SQSTM1 CL E G H8878275872ORPHA154211280601530
HP:0000716HP:0000716Depression0TAC3 CL E G H6866432ArbovirosisORPHA12211521162330
HP:0000716HP:0000716Depression0TACR3 CL E G H6870432ArbovirosisORPHA111111528162332
HP:0000716HP:0000716Depression0TAF15 CL E G H8148803ORPHA18911547601574
HP:0000716HP:0000716Depression0TARDBP CL E G H23435275872ORPHA125911571605078
HP:0000716HP:0000716Depression0TARDBP CL E G H23435803ORPHA125911571605078
HP:0000716HP:0000716Depression0TBC1D7 CL E G H51256248000Macrocephalus248000C2243051OMIM110421066612655
HP:0000716HP:0000716Depression0TBK1 CL E G H29110803ORPHA129411584604834
HP:0000716HP:0000716Depression0TBK1 CL E G H29110275872ORPHA129411584604834
HP:0000716HP:0000716Depression0TBL2 CL E G H26608904Blepharophimosis nasal groove growth retardationORPHA116611586605842
HP:0000716HP:0000716Depression0TBP CL E G H6908607136Spinocerebellar ataxia 17607136C1846707OMIM111611588600075
HP:0000716HP:0000716Depression0TGFBR2 CL E G H7048144ORPHA184211773190182
HP:0000716HP:0000716Depression0TMEM106B CL E G H54664100070ORPHA18722407613413
HP:0000716HP:0000716Depression0TNXB CL E G H7148285Impossible syndromeORPHA1168811976600985
HP:0000716HP:0000716Depression0TOR1A CL E G H186136899ORPHA11723098605204
HP:0000716HP:0000716Depression0TOR1A CL E G H1861128100Dystonia 1128100C1851945OMIM11723098605204
HP:0000716HP:0000716Depression0TREM2 CL E G H54209803ORPHA111017761605086
HP:0000716HP:0000716Depression0TREM2 CL E G H54209100070ORPHA111017761605086
HP:0000716HP:0000716Depression0TTC19 CL E G H54902615157Mitochondrial complex III deficiency, nuclear type 2615157C3554605OMIM126326006613814
HP:0000716HP:0000716Depression0TWNK CL E G H56652609286Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3609286C1836439OMIM13081160606075
HP:0000716HP:0000716Depression0TWNK CL E G H56652607459Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis607459C1843851OMIM13081160606075
HP:0000716HP:0000716Depression0UBQLN2 CL E G H29978803ORPHA122312509300264
HP:0000716HP:0000716Depression0UNC13A CL E G H23025803ORPHA17523150609894
HP:0000716HP:0000716Depression0USP8 CL E G H910196253ORPHA113412631603158
HP:0000716HP:0000716Depression0VAPB CL E G H9217803ORPHA131912649605704
HP:0000716HP:0000716Depression0VCP CL E G H7415803ORPHA147312666601023
HP:0000716HP:0000716Depression0VCP CL E G H7415100070ORPHA147312666601023
HP:0000716HP:0000716Depression0VCP CL E G H7415275872ORPHA147312666601023
HP:0000716HP:0000716Depression0WDR11 CL E G H55717432ArbovirosisORPHA129313831606417
HP:0000716HP:0000716Depression0WFS1 CL E G H7466411590ORPHA1126812762606201
HP:0000716HP:0000716Depression0WFS1 CL E G H7466614296Wolfram-like syndrome, autosomal dominant614296C3280358OMIM1126812762606201
HP:0000716HP:0000716Depression0XK CL E G H7504300842McLeod neuroacanthocytosis syndrome300842C0398568OMIM118812811314850
HP:0000716HP:0000716Depression0XPR1 CL E G H9213616413Basal ganglia calcification, idiopathic, 6616413C4225335OMIM116712827605237
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0000716HP:0000716Depression0ADGRV1 CL E G H84059231178ORPHA0356617416602851
HP:0000716HP:0000716Depression0AFG3L2 CL E G H10939101109ORPHA0385315604581
HP:0000716HP:0000716Depression0ALMS1 CL E G H784064ORPHA04321428606844
HP:0000716HP:0000716Depression0AP2S1 CL E G H1175600740Hypocalciuric hypercalcemia, familial, type III600740C1833372OMIM084565602242
HP:0000716HP:0000716Depression0ARSA CL E G H410309271ORPHA0953713607574
HP:0000716HP:0000716Depression0ARSG CL E G H22901231183ORPHA028924102610008
HP:0000716HP:0000716Depression0ARVCF CL E G H421567ORPHA0541728602269
HP:0000716HP:0000716Depression0ATP13A2 CL E G H23400314632ORPHA073830213610513
HP:0000716HP:0000716Depression0ATP1A3 CL E G H47871517ORPHA0790801182350
HP:0000716HP:0000716Depression0ATRX CL E G H546847ORPHA01544886300032
HP:0000716HP:0000716Depression0ATXN10 CL E G H2581498761ORPHA010810549611150
HP:0000716HP:0000716Depression0ATXN8 CL E G H72406698760ORPHA0232925613289
HP:0000716HP:0000716Depression0ATXN8OS CL E G H631598760ORPHA07910561603680
HP:0000716HP:0000716Depression0BCR CL E G H613261330ORPHA02151014151410
HP:0000716HP:0000716Depression0C9orf72 CL E G H203228401901ORPHA017328337614260
HP:0000716HP:0000716Depression0CDH23 CL E G H64072231169ORPHA0360413733605516
HP:0000716HP:0000716Depression0CEP78 CL E G H84131231183ORPHA043825740617110
HP:0000716HP:0000716Depression0CIB2 CL E G H10518231169ORPHA018224579605564
HP:0000716HP:0000716Depression0CLRN1 CL E G H7401231183ORPHA029612605606397
HP:0000716HP:0000716Depression0COMT CL E G H1312567ORPHA05862228116790
HP:0000716HP:0000716Depression0CRKL CL E G H1399261330ORPHA04142363602007
HP:0000716HP:0000716Depression0DGUOK CL E G H1716329314ORPHA01672858601465
HP:0000716HP:0000716Depression0DNAJC13 CL E G H23317411602ORPHA016530343614334
HP:0000716HP:0000716Depression0DNMT1 CL E G H1786314404ORPHA09952976126375
HP:0000716HP:0000716Depression0EHMT1 CL E G H7981396147ORPHA0157024650607001
HP:0000716HP:0000716Depression0EIF4G1 CL E G H1981411602ORPHA0943296600495
HP:0000716HP:0000716Depression0FGF14 CL E G H225998764ORPHA02083671601515
HP:0000716HP:0000716Depression0FGF14 CL E G H2259609307Spinocerebellar ataxia 27609307C1836383OMIM02083671601515
HP:0000716HP:0000716Depression0GBA CL E G H2629411602ORPHA04177606463
HP:0000716HP:0000716Depression0GIGYF2 CL E G H26058411602ORPHA025511960612003
HP:0000716HP:0000716Depression0GLA CL E G H2717324Slti Salem syndromeORPHA010024296300644
HP:0000716HP:0000716Depression0GNAS CL E G H277879443ORPHA04454392139320
HP:0000716HP:0000716Depression0GNAS CL E G H277879444ORPHA04454392139320
HP:0000716HP:0000716Depression0GNAS CL E G H277894089ORPHA04454392139320
HP:0000716HP:0000716Depression0GP1BB CL E G H2812567ORPHA04494440138720
HP:0000716HP:0000716Depression0GPIHBP1 CL E G H338328444490Familial chylomicronemia syndromeCN231410ORPHA016624945612757
HP:0000716HP:0000716Depression0GPR35 CL E G H2859171Le Marec Bracq Picaud syndromeORPHA01204492602646
HP:0000716HP:0000716Depression0HARS CL E G H3035231183ORPHA04816142810
HP:0000716HP:0000716Depression0HIRA CL E G H7290567ORPHA04354916600237
HP:0000716HP:0000716Depression0JMJD1C CL E G H221037567ORPHA097112313604503
HP:0000716HP:0000716Depression0LMF1 CL E G H64788444490Familial chylomicronemia syndromeCN231410ORPHA043714154611761
HP:0000716HP:0000716Depression0LRRK2 CL E G H120892411602ORPHA0222618618609007
HP:0000716HP:0000716Depression0MAPK1 CL E G H5594261330ORPHA01306871176948
HP:0000716HP:0000716Depression0MST1 CL E G H4485171Le Marec Bracq Picaud syndromeORPHA0177380142408
HP:0000716HP:0000716Depression0MT-TL1 CL E G H4567663Maternally-inherited progressive external ophthalmoplegiaCN924917ORPHA07490590050
HP:0000716HP:0000716Depression0MT-TL2 CL E G H4568663Maternally-inherited progressive external ophthalmoplegiaCN924917ORPHA07491590055
HP:0000716HP:0000716Depression0MT-TN CL E G H4570663Maternally-inherited progressive external ophthalmoplegiaCN924917ORPHA07493590010
HP:0000716HP:0000716Depression0MT-TS1 CL E G H4574663Maternally-inherited progressive external ophthalmoplegiaCN924917ORPHA07497590080
HP:0000716HP:0000716Depression0MT-TS2 CL E G H4575231183ORPHA07498590085
HP:0000716HP:0000716Depression0MYO7A CL E G H4647231178ORPHA029247606276903
HP:0000716HP:0000716Depression0MYO7A CL E G H4647231169ORPHA029247606276903
HP:0000716HP:0000716Depression0PCDH15 CL E G H65217231169ORPHA0232314674605514
HP:0000716HP:0000716Depression0PDZD7 CL E G H79955231178ORPHA071826257612971
HP:0000716HP:0000716Depression0PLA2G6 CL E G H8398199351ORPHA05989039603604
HP:0000716HP:0000716Depression0POLG CL E G H5428254892ORPHA019179179174763
HP:0000716HP:0000716Depression0POLG CL E G H542870595ORPHA019179179174763
HP:0000716HP:0000716Depression0POLG CL E G H5428254886ORPHA019179179174763
HP:0000716HP:0000716Depression0POLG2 CL E G H11232254892ORPHA02409180604983
HP:0000716HP:0000716Depression0PPOX CL E G H549879473ORPHA01609280600923
HP:0000716HP:0000716Depression0PSAP CL E G H5660309271ORPHA05989498176801
HP:0000716HP:0000716Depression0PTS CL E G H580513Brain malformationC0266449ORPHA02149689612719
HP:0000716HP:0000716Depression0RPS6KA3 CL E G H6197276630ORPHA042610432300075
HP:0000716HP:0000716Depression0RREB1 CL E G H6239567ORPHA017510449602209
HP:0000716HP:0000716Depression0RRM2B CL E G H50484254892ORPHA029317296604712
HP:0000716HP:0000716Depression0SEC24C CL E G H9632567ORPHA02510705607185
HP:0000716HP:0000716Depression0SLC25A4 CL E G H291254892ORPHA027810990103220
HP:0000716HP:0000716Depression0SNCA CL E G H6622411602ORPHA017711138163890
HP:0000716HP:0000716Depression0STX16 CL E G H867594089ORPHA018511431603666
HP:0000716HP:0000716Depression0TBX1 CL E G H6899567ORPHA097211592602054
HP:0000716HP:0000716Depression0TCF4 CL E G H6925171Le Marec Bracq Picaud syndromeORPHA091311634602272
HP:0000716HP:0000716Depression0TK2 CL E G H7084254886ORPHA035611831188250
HP:0000716HP:0000716Depression0TWNK CL E G H56652254892ORPHA03081160606075
HP:0000716HP:0000716Depression0TWNK CL E G H5665270595ORPHA03081160606075
HP:0000716HP:0000716Depression0UFD1 CL E G H7353567ORPHA040012520601754
HP:0000716HP:0000716Depression0USH1C CL E G H10083231169ORPHA093712597605242
HP:0000716HP:0000716Depression0USH1G CL E G H124590231169ORPHA034016356607696
HP:0000716HP:0000716Depression0USH2A CL E G H7399231178ORPHA0560512601608400
HP:0000716HP:0000716Depression0VCP CL E G H7415329478ORPHA047312666601023
HP:0000716HP:0000716Depression0VPS35 CL E G H55737411602ORPHA018413487601501
HP:0000716HP:0000716Depression0WHRN CL E G H25861231178ORPHA070916361607928


Genes (245) :AARS2 ADGRV1 AFG3L2 AIP ALMS1 AMACR ANG ANOS1 ANXA11 AP2S1 ARMC5 ARSA ARSG ARVCF ATP13A2 ATP1A3 ATP7B ATRX ATXN10 ATXN2 ATXN8 ATXN8OS BAZ1B BCR BCS1L C19ORF12 C19orf12 C9ORF72 C9orf72 CACNA1G CASR CBS CCNF CDH23 CEP78 CFAP410 CHCHD10 CHD7 CHMP2B CIB2 CISD2 CLCN4 CLIP2 CLN6 CLRN1 COASY COMT COQ2 COX1 COX2 COX3 CP CPOX CRKL CSF1R CTSF CYP27A1 DAO DCTN1 DGUOK DNA2 DNAJC13 DNAJC5 DNMT1 DRD2 DUSP6 EHMT1 EIF4G1 ELN EPCAM EPHA4 ERBB4 FAN1 FGF14 FGF17 FGF8 FGFR1 FIG4 FMO3 FMR1 FUS GBA GCH1 GIGYF2 GLA GLE1 GNA11 GNAS GNRH1 GNRHR GP1BB GPIHBP1 GPR101 GPR35 GRN GTF2I GTF2IRD1 HARS HBB HIRA HMBS HNRNPA1 HS6ST1 HTT IDUA JMJD1C JPH3 KCNJ2 KCNT1 KCTD17 KISS1 KISS1R KRAS LIMK1 LMF1 LMNB1 LRRK2 MAPK1 MAPT MATR3 MECP2 MLH1 MLH3 MSH2 MSH6 MST1 MSTO1 MT-CO1 MT-CO2 MT-CO3 MT-ND1 MT-ND4 MT-ND5 MT-ND6 MT-TF MT-TH MT-TL1 MT-TQ MT-TS1 MT-TS2 MT-TW MYO7A ND1 ND4 ND5 ND6 NEFH NEK1 NOTCH3 NR4A2 NSMF OCRL OPTN PAH PANK2 PCDH15 PDE11A PDGFB PDGFRB PDZD7 PER2 PER3 PFN1 PIK3CA PINK1 PLA2G6 PMS1 PMS2 POLG POLG2 PON1 PON2 PON3 PPARGC1A PPOX PPP2R2B PPT1 PRKACA PRKAR1A PRKCG PRNP PROK2 PROKR2 PRPH PSAP PSEN1 PTPN22 PTS RFC2 RPS6KA3 RREB1 RRM2B SEC24C SGCE SLC20A2 SLC25A4 SNCA SNCAIP SOD1 SPAST SPRY4 SQSTM1 STX16 TAC3 TACR3 TAF15 TARDBP TBC1D7 TBK1 TBL2 TBP TBX1 TCF4 TGFBR2 TK2 TMEM106B TNXB TOR1A TREM2 TRNF TRNH TRNL1 TRNL2 TRNN TRNQ TRNS1 TRNS2 TRNW TTC19 TWNK UBQLN2 UFD1 UNC13A USH1C USH1G USH2A USP8 VAPB VCP VPS35 WDR11 WFS1 WHRN XK XPR1

Diseases (143) :615889 231178 101109 963 64 614307 803 432 600740 189427 615954 309271 231183 567 314632 71517 128235 905 847 98761 603516 98760 904 261330 124000 614298 401901 275872 100070 105550 458803 616795 428 236200 231169 96253 604928 300114 204300 615643 98933 227510 550 48818 79273 121300 221820 615362 909 178509 168605 329314 352470 411602 162350 314404 604121 36899 96147 144 98764 609307 602079 93256 300623 231000 98808 324 79443 94089 79444 219080 444490 171 231214 79276 176000 248111 143100 93473 606438 170390 615005 616398 169500 778 300260 502423 617675 136 168600 534 79254 261600 216873 234200 610475 213600 615483 615007 616592 604348 616882 605909 199351 612953 70595 254892 254886 157640 258450 607459 79473 604326 256730 615830 610489 605361 282166 157941 280397 137440 603218 123400 397 13 276630 613077 159900 168601 182601 248000 607136 285 128100 663 615157 609286 329478 411590 614296 300842 616413
 

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