Human Phenotype Ontology 
Grandparent Node:
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Abnormality of coordination (HP:0011443)help
Parent Node:
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Functional motor deficit (HP:0004302)help
Parent Node:
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Incoordination (HP:0002311)help
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Frequent falls (HP:0002359)help
Term ID: 2359
Name: Frequent falls
Synonym: Frequent falls
Definition:
Comments:
Reference: HP:0002359
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandClumsiness (HP:0002312) help
..expandPoor coordination (HP:0002370) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0002359HP:0002359Frequent falls0ACTA1 CL E G H58161800Nemaline myopathy 3161800C3711389OMIM1362129102610
HP:0002359HP:0002359Frequent falls0ACTA1 CL E G H58161800Nemaline myopathy 3161800C3711389OMIM1325129102610
HP:0002359HP:0002359Frequent falls0ALG14 CL E G H199857616227Myasthenic syndrome, congenital, 15616227C4015596OMIM19728287612866
HP:0002359HP:0002359Frequent falls0ALG14 CL E G H199857616227Myasthenic syndrome, congenital, 15616227C4015596OMIM17628287612866
HP:0002359HP:0002359Frequent falls0ARHGEF2 CL E G H9181617523Neurodevelopmental disorder with midbrain and hindbrain malformations617523C4479613OMIM137682607560
HP:0002359HP:0002359Frequent falls0ARHGEF2 CL E G H9181617523Neurodevelopmental disorder with midbrain and hindbrain malformations617523C4479613OMIM141682607560
HP:0002359HP:0002359Frequent falls0ARSA CL E G H410309256ORPHA1732713607574
HP:0002359HP:0002359Frequent falls0ARSA CL E G H410309263ORPHA1732713607574
HP:0002359HP:0002359Frequent falls0ARSA CL E G H410309271ORPHA1732713607574
HP:0002359HP:0002359Frequent falls0ARSA CL E G H410309256ORPHA1841713607574
HP:0002359HP:0002359Frequent falls0ARSA CL E G H410309263ORPHA1841713607574
HP:0002359HP:0002359Frequent falls0ARSA CL E G H410309271ORPHA1841713607574
HP:0002359HP:0002359Frequent falls0ASAH1 CL E G H427159950Jankovic Rivera syndrome159950C1834569OMIM1593735613468
HP:0002359HP:0002359Frequent falls0ASAH1 CL E G H427159950Jankovic Rivera syndrome159950C1834569OMIM1420735613468
HP:0002359HP:0002359Frequent falls0ATP2B3 CL E G H492314978ORPHA1292816300014
HP:0002359HP:0002359Frequent falls0ATP2B3 CL E G H492314978ORPHA1300816300014
HP:0002359HP:0002359Frequent falls0B4GALNT1 CL E G H2583609195Spastic paraplegia 26609195C1836632OMIM11694117601873
HP:0002359HP:0002359Frequent falls0B4GALNT1 CL E G H2583609195Spastic paraplegia 26609195C1836632OMIM11484117601873
HP:0002359HP:0002359Frequent falls0C19orf12 CL E G H83636289560ORPHA124825443614297
HP:0002359HP:0002359Frequent falls0C19orf12 CL E G H83636289560ORPHA124025443614297
HP:0002359HP:0002359Frequent falls0COL12A1 CL E G H130375840ORPHA116782188120320
HP:0002359HP:0002359Frequent falls0COL12A1 CL E G H130375840ORPHA113672188120320
HP:0002359HP:0002359Frequent falls0COL6A1 CL E G H129175840ORPHA113422211120220
HP:0002359HP:0002359Frequent falls0COL6A1 CL E G H129175840ORPHA112192211120220
HP:0002359HP:0002359Frequent falls0COL6A2 CL E G H129275840ORPHA115122212120240
HP:0002359HP:0002359Frequent falls0COL6A2 CL E G H129275840ORPHA113702212120240
HP:0002359HP:0002359Frequent falls0COL6A3 CL E G H129375840ORPHA122332213120250
HP:0002359HP:0002359Frequent falls0COL6A3 CL E G H129375840ORPHA119712213120250
HP:0002359HP:0002359Frequent falls0COQ2 CL E G H27235227510ORPHA113725223609825
HP:0002359HP:0002359Frequent falls0COQ2 CL E G H2723598933ORPHA117125223609825
HP:0002359HP:0002359Frequent falls0COQ2 CL E G H2723598933ORPHA113725223609825
HP:0002359HP:0002359Frequent falls0COQ2 CL E G H27235227510ORPHA117125223609825
HP:0002359HP:0002359Frequent falls0CWF19L1 CL E G H55280453521ORPHA15925613616120
HP:0002359HP:0002359Frequent falls0DAB1 CL E G H1600615945Spinocerebellar ataxia 37615945C3889636OMIM1802661603448
HP:0002359HP:0002359Frequent falls0DAB1 CL E G H1600615945Spinocerebellar ataxia 37615945C3889636OMIM1812661603448
HP:0002359HP:0002359Frequent falls0DNAJC13 CL E G H23317411602ORPHA116330343614334
HP:0002359HP:0002359Frequent falls0DNAJC13 CL E G H23317411602ORPHA116130343614334
HP:0002359HP:0002359Frequent falls0DYNC1H1 CL E G H1778614228Charcot-Marie-Tooth disease, axonal, type 2O614228C3280220OMIM123852961600112
HP:0002359HP:0002359Frequent falls0DYNC1H1 CL E G H1778614228Charcot-Marie-Tooth disease, axonal, type 2O614228C3280220OMIM120232961600112
HP:0002359HP:0002359Frequent falls0EIF4G1 CL E G H1981411602ORPHA1913296600495
HP:0002359HP:0002359Frequent falls0EIF4G1 CL E G H1981411602ORPHA1923296600495
HP:0002359HP:0002359Frequent falls0FA2H CL E G H79152171629ORPHA127521197611026
HP:0002359HP:0002359Frequent falls0FA2H CL E G H79152171629ORPHA124121197611026
HP:0002359HP:0002359Frequent falls0FHL1 CL E G H2273300718Myopathy, reducing body, X-linked, childhood-onset300718C2678015OMIM14863702300163
HP:0002359HP:0002359Frequent falls0FHL1 CL E G H2273300718Myopathy, reducing body, X-linked, childhood-onset300718C2678015OMIM14373702300163
HP:0002359HP:0002359Frequent falls0FIG4 CL E G H9896611228Charcot-Marie-Tooth disease, type 4J611228C1970011OMIM164916873609390
HP:0002359HP:0002359Frequent falls0FIG4 CL E G H9896611228Charcot-Marie-Tooth disease, type 4J611228C1970011OMIM155816873609390
HP:0002359HP:0002359Frequent falls0FKRP CL E G H79147370980ORPHA167117997606596
HP:0002359HP:0002359Frequent falls0FKRP CL E G H79147370980ORPHA157217997606596
HP:0002359HP:0002359Frequent falls0FKRP CL E G H79147606612Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B5606612C1847759OMIM167117997606596
HP:0002359HP:0002359Frequent falls0FKRP CL E G H79147606612Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B5606612C1847759OMIM157217997606596
HP:0002359HP:0002359Frequent falls0FKRP CL E G H79147607155Limb-girdle muscular dystrophy-dystroglycanopathy, type C5607155C1846672OMIM167117997606596
HP:0002359HP:0002359Frequent falls0FKRP CL E G H79147607155Limb-girdle muscular dystrophy-dystroglycanopathy, type C5607155C1846672OMIM157217997606596
HP:0002359HP:0002359Frequent falls0FKTN CL E G H2218370980ORPHA15993622607440
HP:0002359HP:0002359Frequent falls0FKTN CL E G H2218370980ORPHA16793622607440
HP:0002359HP:0002359Frequent falls0GBA CL E G H2629411602ORPHA12694177606463
HP:0002359HP:0002359Frequent falls0GBA CL E G H2629411602ORPHA12614177606463
HP:0002359HP:0002359Frequent falls0GIGYF2 CL E G H26058411602ORPHA120011960612003
HP:0002359HP:0002359Frequent falls0GIGYF2 CL E G H26058411602ORPHA122911960612003
HP:0002359HP:0002359Frequent falls0GJB1 CL E G H27051175CDK4 linked melanomaORPHA17324283304040
HP:0002359HP:0002359Frequent falls0GJB1 CL E G H27051175CDK4 linked melanomaORPHA17714283304040
HP:0002359HP:0002359Frequent falls0GLRA1 CL E G H2741149400Hyperekplexia hereditary149400C1835614OMIM13424326138491
HP:0002359HP:0002359Frequent falls0GLRA1 CL E G H2741149400Hyperekplexia hereditary149400C1835614OMIM12994326138491
HP:0002359HP:0002359Frequent falls0GPHN CL E G H10243149400Hyperekplexia hereditary149400C1835614OMIM137415465603930
HP:0002359HP:0002359Frequent falls0GPHN CL E G H10243149400Hyperekplexia hereditary149400C1835614OMIM127615465603930
HP:0002359HP:0002359Frequent falls0GRM1 CL E G H2911617691SPINOCEREBELLAR ATAXIA 44617691C4521563OMIM11934593604473
HP:0002359HP:0002359Frequent falls0GRM1 CL E G H2911617691SPINOCEREBELLAR ATAXIA 44617691C4521563OMIM11864593604473
HP:0002359HP:0002359Frequent falls0HINT1 CL E G H3094324442ORPHA11254912601314
HP:0002359HP:0002359Frequent falls0HINT1 CL E G H3094324442ORPHA11144912601314
HP:0002359HP:0002359Frequent falls0ISPD CL E G H729920370980ORPHA154537276614631
HP:0002359HP:0002359Frequent falls0ISPD CL E G H729920370980ORPHA154937276614631
HP:0002359HP:0002359Frequent falls0KIF1C CL E G H10749397946ORPHA12866317603060
HP:0002359HP:0002359Frequent falls0KIF1C CL E G H10749397946ORPHA13356317603060
HP:0002359HP:0002359Frequent falls0KIF1C CL E G H10749611302Ataxia, spastic, 2, autosomal recessive611302C1969796OMIM13356317603060
HP:0002359HP:0002359Frequent falls0KIF1C CL E G H10749611302Ataxia, spastic, 2, autosomal recessive611302C1969796OMIM12866317603060
HP:0002359HP:0002359Frequent falls0LRRK2 CL E G H120892411602ORPHA169718618609007
HP:0002359HP:0002359Frequent falls0LRRK2 CL E G H120892411602ORPHA160718618609007
HP:0002359HP:0002359Frequent falls0MFN2 CL E G H992799947ORPHA194416877608507
HP:0002359HP:0002359Frequent falls0MFN2 CL E G H992799947ORPHA182416877608507
HP:0002359HP:0002359Frequent falls0MRE11 CL E G H4361604391Ataxia-telangiectasia-like disorder 1604391C1858391OMIM112597230600814
HP:0002359HP:0002359Frequent falls0MRE11 CL E G H4361604391Ataxia-telangiectasia-like disorder 1604391C1858391OMIM112587230600814
HP:0002359HP:0002359Frequent falls0MTPAP CL E G H55149254343ORPHA114525532613669
HP:0002359HP:0002359Frequent falls0MTPAP CL E G H55149254343ORPHA118025532613669
HP:0002359HP:0002359Frequent falls0NEB CL E G H4703256030Nemaline myopathy 2256030C1850569OMIM153137720161650
HP:0002359HP:0002359Frequent falls0NEB CL E G H4703256030Nemaline myopathy 2256030C1850569OMIM146747720161650
HP:0002359HP:0002359Frequent falls0NEFH CL E G H4744616924Charcot-Marie-Tooth disease, axonal, type 2CC616924C4310790OMIM11507737162230
HP:0002359HP:0002359Frequent falls0NEFH CL E G H4744616924Charcot-Marie-Tooth disease, axonal, type 2CC616924C4310790OMIM13007737162230
HP:0002359HP:0002359Frequent falls0NOL3 CL E G H8996614937Myoclonus, familial cortical614937C3539916OMIM1427869605235
HP:0002359HP:0002359Frequent falls0NOL3 CL E G H8996614937Myoclonus, familial cortical614937C3539916OMIM1417869605235
HP:0002359HP:0002359Frequent falls0PANK2 CL E G H80025216866ORPHA133115894606157
HP:0002359HP:0002359Frequent falls0PANK2 CL E G H80025216866ORPHA126315894606157
HP:0002359HP:0002359Frequent falls0PDE10A CL E G H10846494526ORPHA11138772610652
HP:0002359HP:0002359Frequent falls0PDE10A CL E G H10846494526ORPHA1898772610652
HP:0002359HP:0002359Frequent falls0PDE10A CL E G H10846616921Dyskinesia, limb and orofacial, infantile-onset616921C4310792OMIM11138772610652
HP:0002359HP:0002359Frequent falls0PDE10A CL E G H10846616921Dyskinesia, limb and orofacial, infantile-onset616921C4310792OMIM1898772610652
HP:0002359HP:0002359Frequent falls0PIK3R5 CL E G H23533615217Ataxia-oculomotor apraxia 3615217C3554690OMIM14830035611317
HP:0002359HP:0002359Frequent falls0PLEC CL E G H5339254361ORPHA138429069601282
HP:0002359HP:0002359Frequent falls0PLEC CL E G H5339254361ORPHA133559069601282
HP:0002359HP:0002359Frequent falls0PMP2 CL E G H5375618279618279618279OMIM1689117170715
HP:0002359HP:0002359Frequent falls0PMP2 CL E G H5375618279618279618279OMIM1489117170715
HP:0002359HP:0002359Frequent falls0POMT1 CL E G H10585370980ORPHA16869202607423
HP:0002359HP:0002359Frequent falls0POMT1 CL E G H10585370980ORPHA16099202607423
HP:0002359HP:0002359Frequent falls0PSAP CL E G H5660309256ORPHA15029498176801
HP:0002359HP:0002359Frequent falls0PSAP CL E G H5660309263ORPHA15029498176801
HP:0002359HP:0002359Frequent falls0PSAP CL E G H5660309271ORPHA15029498176801
HP:0002359HP:0002359Frequent falls0PSAP CL E G H5660309256ORPHA13909498176801
HP:0002359HP:0002359Frequent falls0PSAP CL E G H5660309263ORPHA13909498176801
HP:0002359HP:0002359Frequent falls0PSAP CL E G H5660309271ORPHA13909498176801
HP:0002359HP:0002359Frequent falls0PYROXD1 CL E G H79912617258Myopathy, myofibrillar, 8617258C4310645OMIM131826162617220
HP:0002359HP:0002359Frequent falls0PYROXD1 CL E G H79912617258Myopathy, myofibrillar, 8617258C4310645OMIM122926162617220
HP:0002359HP:0002359Frequent falls0RNU12 CL E G H267010512260ORPHA112193800
HP:0002359HP:0002359Frequent falls0SCO2 CL E G H9997521411ORPHA144510604604272
HP:0002359HP:0002359Frequent falls0SCO2 CL E G H9997521411ORPHA137010604604272
HP:0002359HP:0002359Frequent falls0SCYL1 CL E G H57410466794ORPHA16914372607982
HP:0002359HP:0002359Frequent falls0SCYL1 CL E G H57410466794ORPHA16814372607982
HP:0002359HP:0002359Frequent falls0SCYL1 CL E G H57410616719Spinocerebellar ataxia, autosomal recessive 21616719C4225236OMIM16814372607982
HP:0002359HP:0002359Frequent falls0SCYL1 CL E G H57410616719Spinocerebellar ataxia, autosomal recessive 21616719C4225236OMIM16914372607982
HP:0002359HP:0002359Frequent falls0SGCA CL E G H644262COG4 related congenital disorder of glycosylation, autosomal dominantORPHA142210805600119
HP:0002359HP:0002359Frequent falls0SGCA CL E G H644262COG4 related congenital disorder of glycosylation, autosomal dominantORPHA147410805600119
HP:0002359HP:0002359Frequent falls0SGCG CL E G H6445353Kozlowski Warren Fisher syndromeORPHA145210809608896
HP:0002359HP:0002359Frequent falls0SGCG CL E G H6445353Kozlowski Warren Fisher syndromeORPHA140910809608896
HP:0002359HP:0002359Frequent falls0SLC25A1 CL E G H6576618197MYASTHENIC SYNDROME, CONGENITAL, 23, PRESYNAPTIC618197OMIM147010979190315
HP:0002359HP:0002359Frequent falls0SLC25A1 CL E G H6576618197MYASTHENIC SYNDROME, CONGENITAL, 23, PRESYNAPTIC618197OMIM149810979190315
HP:0002359HP:0002359Frequent falls0SNCA CL E G H6622411602ORPHA115411138163890
HP:0002359HP:0002359Frequent falls0SNCA CL E G H6622411602ORPHA116611138163890
HP:0002359HP:0002359Frequent falls0STIM1 CL E G H6786160565Myopathy with tubular aggregates160565C0410207OMIM145211386605921
HP:0002359HP:0002359Frequent falls0STIM1 CL E G H6786160565Myopathy with tubular aggregates160565C0410207OMIM137911386605921
HP:0002359HP:0002359Frequent falls0VCP CL E G H7415329478ORPHA135612666601023
HP:0002359HP:0002359Frequent falls0VCP CL E G H7415329478ORPHA139512666601023
HP:0002359HP:0002359Frequent falls0VPS13D CL E G H55187607317Spinocerebellar ataxia autosomal recessive 4607317C1846492OMIM126623595608877
HP:0002359HP:0002359Frequent falls0VPS13D CL E G H55187607317Spinocerebellar ataxia autosomal recessive 4607317C1846492OMIM119123595608877
HP:0002359HP:0002359Frequent falls0VPS35 CL E G H55737411602ORPHA116713487601501
HP:0002359HP:0002359Frequent falls0VPS35 CL E G H55737411602ORPHA115413487601501
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0002359HP:0002359Frequent falls0ADAR CL E G H103225154ORPHA0654225146920
HP:0002359HP:0002359Frequent falls0ADAR CL E G H103225154ORPHA0471225146920
HP:0002359HP:0002359Frequent falls0ALG14 CL E G H199857353327ORPHA09728287612866
HP:0002359HP:0002359Frequent falls0ALG14 CL E G H199857353327ORPHA07628287612866
HP:0002359HP:0002359Frequent falls0ALG2 CL E G H85365353327ORPHA019323159607905
HP:0002359HP:0002359Frequent falls0ALG2 CL E G H85365353327ORPHA024123159607905
HP:0002359HP:0002359Frequent falls0ATL1 CL E G H51062100984ORPHA035611231606439
HP:0002359HP:0002359Frequent falls0ATL1 CL E G H51062100984ORPHA031011231606439
HP:0002359HP:0002359Frequent falls0COLQ CL E G H829298915ORPHA04182226603033
HP:0002359HP:0002359Frequent falls0COLQ CL E G H829298915ORPHA03642226603033
HP:0002359HP:0002359Frequent falls0DPAGT1 CL E G H1798353327ORPHA02332995191350
HP:0002359HP:0002359Frequent falls0DPAGT1 CL E G H1798353327ORPHA01992995191350
HP:0002359HP:0002359Frequent falls0FKRP CL E G H7914734515ORPHA067117997606596
HP:0002359HP:0002359Frequent falls0FKRP CL E G H7914734515ORPHA057217997606596
HP:0002359HP:0002359Frequent falls0GFPT1 CL E G H2673353327ORPHA03744241138292
HP:0002359HP:0002359Frequent falls0GFPT1 CL E G H2673353327ORPHA04064241138292
HP:0002359HP:0002359Frequent falls0GMPPB CL E G H29925353327ORPHA023422932615320
HP:0002359HP:0002359Frequent falls0GMPPB CL E G H29925353327ORPHA020322932615320
HP:0002359HP:0002359Frequent falls0HADHA CL E G H3030746Apert like polydactyly syndromeORPHA04774801600890
HP:0002359HP:0002359Frequent falls0HADHA CL E G H3030746Apert like polydactyly syndromeORPHA05274801600890
HP:0002359HP:0002359Frequent falls0HADHB CL E G H3032746Apert like polydactyly syndromeORPHA02424803143450
HP:0002359HP:0002359Frequent falls0HADHB CL E G H3032746Apert like polydactyly syndromeORPHA02134803143450
HP:0002359HP:0002359Frequent falls0LAMB2 CL E G H391398915ORPHA06006487150325
HP:0002359HP:0002359Frequent falls0LAMB2 CL E G H391398915ORPHA04706487150325
HP:0002359HP:0002359Frequent falls0MRE11 CL E G H4361251347ORPHA012597230600814
HP:0002359HP:0002359Frequent falls0MRE11 CL E G H4361251347ORPHA012587230600814
HP:0002359HP:0002359Frequent falls0MT-ATP6 CL E G H4508225154ORPHA07414516060
HP:0002359HP:0002359Frequent falls0MT-TE CL E G H45562596HantavirosisORPHA07479590025
HP:0002359HP:0002359Frequent falls0MYPN CL E G H84665171881ORPHA0103323246608517
HP:0002359HP:0002359Frequent falls0MYPN CL E G H84665171881ORPHA088723246608517
HP:0002359HP:0002359Frequent falls0NUP62 CL E G H23636225154ORPHA0778066605815
HP:0002359HP:0002359Frequent falls0NUP62 CL E G H23636225154ORPHA0438066605815
HP:0002359HP:0002359Frequent falls0PANK2 CL E G H80025216873ORPHA033115894606157
HP:0002359HP:0002359Frequent falls0PANK2 CL E G H80025216873ORPHA026315894606157
HP:0002359HP:0002359Frequent falls0POLG CL E G H5428254892ORPHA014709179174763
HP:0002359HP:0002359Frequent falls0POLG CL E G H5428254892ORPHA017129179174763
HP:0002359HP:0002359Frequent falls0POLG2 CL E G H11232254892ORPHA02049180604983
HP:0002359HP:0002359Frequent falls0POLG2 CL E G H11232254892ORPHA01339180604983
HP:0002359HP:0002359Frequent falls0PRNP CL E G H5621157941ORPHA01469449176640
HP:0002359HP:0002359Frequent falls0PRNP CL E G H5621157941ORPHA01319449176640
HP:0002359HP:0002359Frequent falls0RRM2B CL E G H50484254892ORPHA026117296604712
HP:0002359HP:0002359Frequent falls0RRM2B CL E G H50484254892ORPHA027217296604712
HP:0002359HP:0002359Frequent falls0SDHA CL E G H63893208ORPHA0177810680600857
HP:0002359HP:0002359Frequent falls0SDHA CL E G H63893208ORPHA0154510680600857
HP:0002359HP:0002359Frequent falls0SDHAF1 CL E G H6440963208ORPHA05433867612848
HP:0002359HP:0002359Frequent falls0SDHAF1 CL E G H6440963208ORPHA04633867612848
HP:0002359HP:0002359Frequent falls0SDHB CL E G H63903208ORPHA092610681185470
HP:0002359HP:0002359Frequent falls0SDHB CL E G H63903208ORPHA082410681185470
HP:0002359HP:0002359Frequent falls0SDHD CL E G H63923208ORPHA050710683602690
HP:0002359HP:0002359Frequent falls0SDHD CL E G H63923208ORPHA044210683602690
HP:0002359HP:0002359Frequent falls0SLC25A4 CL E G H291254892ORPHA026110990103220
HP:0002359HP:0002359Frequent falls0SLC25A4 CL E G H291254892ORPHA025410990103220
HP:0002359HP:0002359Frequent falls0TAF1 CL E G H687253351ORPHA032111535313650
HP:0002359HP:0002359Frequent falls0TAF1 CL E G H687253351ORPHA030211535313650
HP:0002359HP:0002359Frequent falls0TPM2 CL E G H7169171881ORPHA024212011190990
HP:0002359HP:0002359Frequent falls0TPM2 CL E G H7169171881ORPHA023412011190990
HP:0002359HP:0002359Frequent falls0TPM3 CL E G H7170171881ORPHA028312012191030
HP:0002359HP:0002359Frequent falls0TPM3 CL E G H7170171881ORPHA026112012191030
HP:0002359HP:0002359Frequent falls0TWNK CL E G H56652254892ORPHA02341160606075
HP:0002359HP:0002359Frequent falls0TWNK CL E G H56652254892ORPHA02701160606075


Genes (87) :ACTA1 ADAR ALG14 ALG2 ARHGEF2 ARSA ASAH1 ATL1 ATP2B3 ATP6 B4GALNT1 C19ORF12 C19orf12 COL12A1 COL6A1 COL6A2 COL6A3 COLQ COQ2 CRPPA CWF19L1 DAB1 DNAJC13 DPAGT1 DYNC1H1 EIF4G1 FA2H FHL1 FIG4 FKRP FKTN GBA GFPT1 GIGYF2 GJB1 GLRA1 GMPPB GPHN GRM1 HADHA HADHB HINT1 ISPD KIF1C LAMB2 LRRK2 MFN2 MRE11 MTPAP MYPN NEB NEFH NOL3 NUP62 PANK2 PDE10A PIK3R5 PLEC PMP2 POLG POLG2 POMT1 PRNP PSAP PYROXD1 RNU12 RRM2B SCO2 SCYL1 SDHA SDHAF1 SDHB SDHD SGCA SGCG SLC25A1 SLC25A4 SNCA STIM1 TAF1 TPM2 TPM3 TRNE TWNK VCP VPS13D VPS35

Diseases (66) :161800 225154 353327 616227 617523 309271 309263 309256 159950 100984 314978 609195 289560 75840 98915 98933 227510 370980 453521 615945 411602 614228 171629 300718 611228 34515 606612 607155 1175 149400 617691 746 324442 397946 611302 99947 251347 604391 254343 171881 256030 616924 614937 216866 216873 494526 616921 615217 254361 618279 254892 157941 617258 512260 521411 466794 616719 3208 62 353 618197 160565 53351 2596 329478 607317
 

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