Human Phenotype Ontology 
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Clinical modifier (HP:0012823)help
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Phenotypic variability (HP:0003812)help
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Incomplete penetrance (HP:0003829)help
Term ID: 3829
Name: Incomplete penetrance
Synonym: Reduced penetrance
Definition: A situation in which mutation carriers do not show clinically evident phenotypic abnormalities.
Comments:
Reference: HP:0003829
Genes and Diseases:
 
       Child Nodes:
........expandAge-dependent penetrance (HP:0003831) help

 Sister Nodes: 
..expandVariable expressivity (HP:0003828) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0003829HP:0003829Incomplete penetrance0ACTN4 CL E G H81603278Focal segmental glomerulosclerosis 1603278C0333497OMIM1191166604638
HP:0003829HP:0003829Incomplete penetrance0ACTN4 CL E G H81603278Focal segmental glomerulosclerosis 1603278C0333497OMIM1169166604638
HP:0003829HP:0003829Incomplete penetrance0ANO3 CL E G H63982615034Dystonia 24615034C3554374OMIM132714004610110
HP:0003829HP:0003829Incomplete penetrance0ANO3 CL E G H63982615034Dystonia 24615034C3554374OMIM130714004610110
HP:0003829HP:0003829Incomplete penetrance0ANXA11 CL E G H311617839AMYOTROPHIC LATERAL SCLEROSIS 23617839CN778765OMIM1150535602572
HP:0003829HP:0003829Incomplete penetrance0ANXA11 CL E G H311617839AMYOTROPHIC LATERAL SCLEROSIS 23617839CN778765OMIM193535602572
HP:0003829HP:0003829Incomplete penetrance0ATL1 CL E G H51062182600Spastic paraplegia 3182600C2931355OMIM135611231606439
HP:0003829HP:0003829Incomplete penetrance0ATL1 CL E G H51062182600Spastic paraplegia 3182600C2931355OMIM131011231606439
HP:0003829HP:0003829Incomplete penetrance0ATP1A2 CL E G H477602481Familial hemiplegic migraine type 2602481C1865322OMIM1801800182340
HP:0003829HP:0003829Incomplete penetrance0ATP1A2 CL E G H477602481Familial hemiplegic migraine type 2602481C1865322OMIM1726800182340
HP:0003829HP:0003829Incomplete penetrance0ATP1A3 CL E G H478128235Dystonia 12128235C1868681OMIM1687801182350
HP:0003829HP:0003829Incomplete penetrance0ATP1A3 CL E G H478128235Dystonia 12128235C1868681OMIM1625801182350
HP:0003829HP:0003829Incomplete penetrance0ATXN10 CL E G H25814603516Spinocerebellar ataxia 10603516C1963674OMIM110110549611150
HP:0003829HP:0003829Incomplete penetrance0ATXN10 CL E G H25814603516Spinocerebellar ataxia 10603516C1963674OMIM19910549611150
HP:0003829HP:0003829Incomplete penetrance0BMPR2 CL E G H659178600Primary pulmonary hypertension178600C0152171OMIM18961078600799
HP:0003829HP:0003829Incomplete penetrance0BMPR2 CL E G H659178600Primary pulmonary hypertension178600C0152171OMIM18461078600799
HP:0003829HP:0003829Incomplete penetrance0CACNA1A CL E G H773108500Episodic ataxia type 2108500C1720416OMIM123261388601011
HP:0003829HP:0003829Incomplete penetrance0CACNA1A CL E G H773108500Episodic ataxia type 2108500C1720416OMIM120471388601011
HP:0003829HP:0003829Incomplete penetrance0CACNA1S CL E G H779170400Hypokalemic periodic paralysis 1170400C3714580OMIM113271397114208
HP:0003829HP:0003829Incomplete penetrance0CACNA1S CL E G H779170400Hypokalemic periodic paralysis 1170400C3714580OMIM111541397114208
HP:0003829HP:0003829Incomplete penetrance0CACNB4 CL E G H785613855Episodic ataxia, type 5613855C1866039OMIM13051404601949
HP:0003829HP:0003829Incomplete penetrance0CACNB4 CL E G H785613855Episodic ataxia, type 5613855C1866039OMIM13001404601949
HP:0003829HP:0003829Incomplete penetrance0CAV1 CL E G H857615343Primary pulmonary hypertension 3615343C3809192OMIM1851527601047
HP:0003829HP:0003829Incomplete penetrance0CAV1 CL E G H857615343Primary pulmonary hypertension 3615343C3809192OMIM1811527601047
HP:0003829HP:0003829Incomplete penetrance0CFC1 CL E G H55997605376Heterotaxy, visceral, 2, autosomal605376C1415817OMIM13618292605194
HP:0003829HP:0003829Incomplete penetrance0CFC1 CL E G H55997605376Heterotaxy, visceral, 2, autosomal605376C1415817OMIM13418292605194
HP:0003829HP:0003829Incomplete penetrance0CHRNA2 CL E G H1135610353Epilepsy, nocturnal frontal lobe, type 4610353C1835905OMIM15891956118502
HP:0003829HP:0003829Incomplete penetrance0CHRNA2 CL E G H1135610353Epilepsy, nocturnal frontal lobe, type 4610353C1835905OMIM15401956118502
HP:0003829HP:0003829Incomplete penetrance0CHRNA4 CL E G H1137600513Epilepsy, nocturnal frontal lobe, type 1600513C1838049OMIM18161958118504
HP:0003829HP:0003829Incomplete penetrance0CHRNA4 CL E G H1137600513Epilepsy, nocturnal frontal lobe, type 1600513C1838049OMIM17431958118504
HP:0003829HP:0003829Incomplete penetrance0CLCN2 CL E G H1181605635Hyperaldosteronism, familial, type II605635C1854107OMIM11942020600570
HP:0003829HP:0003829Incomplete penetrance0CLCN2 CL E G H1181605635Hyperaldosteronism, familial, type II605635C1854107OMIM11632020600570
HP:0003829HP:0003829Incomplete penetrance0COL4A2 CL E G H1284614483Porencephaly 2614483C3280970OMIM18572203120090
HP:0003829HP:0003829Incomplete penetrance0COL4A2 CL E G H1284614483Porencephaly 2614483C3280970OMIM17642203120090
HP:0003829HP:0003829Incomplete penetrance0CPOX CL E G H1371121300Hereditary coproporphyria121300C0162531OMIM11972321612732
HP:0003829HP:0003829Incomplete penetrance0CPOX CL E G H1371121300Hereditary coproporphyria121300C0162531OMIM11692321612732
HP:0003829HP:0003829Incomplete penetrance0CRELD1 CL E G H78987606217Atrioventricular septal defect 2606217C1853508OMIM113714630607170
HP:0003829HP:0003829Incomplete penetrance0CRELD1 CL E G H78987606217Atrioventricular septal defect 2606217C1853508OMIM112414630607170
HP:0003829HP:0003829Incomplete penetrance0CTLA4 CL E G H1493616100Autoimmune lymphoproliferatiVe syndrome, type V616100C4015214OMIM11722505123890
HP:0003829HP:0003829Incomplete penetrance0CTLA4 CL E G H1493616100Autoimmune lymphoproliferatiVe syndrome, type V616100C4015214OMIM11462505123890
HP:0003829HP:0003829Incomplete penetrance0CTNNB1 CL E G H1499155255Medulloblastoma155255C0025149OMIM13642514116806
HP:0003829HP:0003829Incomplete penetrance0CTNNB1 CL E G H1499155255Medulloblastoma155255C0025149OMIM12692514116806
HP:0003829HP:0003829Incomplete penetrance0DCC CL E G H1630157600Mirror movements 1157600C1834870OMIM11622701120470
HP:0003829HP:0003829Incomplete penetrance0DCC CL E G H1630157600Mirror movements 1157600C1834870OMIM11602701120470
HP:0003829HP:0003829Incomplete penetrance0DCX CL E G H1641300067Lissencephaly, X-linked300067C1848199OMIM13682714300121
HP:0003829HP:0003829Incomplete penetrance0DCX CL E G H1641300067Lissencephaly, X-linked300067C1848199OMIM13572714300121
HP:0003829HP:0003829Incomplete penetrance0DEPDC5 CL E G H9681604364Epilepsy, familial focal, with variable foci 1604364C1858477OMIM1140018423614191
HP:0003829HP:0003829Incomplete penetrance0DEPDC5 CL E G H9681604364Epilepsy, familial focal, with variable foci 1604364C1858477OMIM1118618423614191
HP:0003829HP:0003829Incomplete penetrance0DSTYK CL E G H25778610805Congenital anomalies of kidney and urinary tract 1, susceptibility to610805C1835826OMIM18629043612666
HP:0003829HP:0003829Incomplete penetrance0DSTYK CL E G H25778610805Congenital anomalies of kidney and urinary tract 1, susceptibility to610805C1835826OMIM17529043612666
HP:0003829HP:0003829Incomplete penetrance0ELOVL4 CL E G H6785133190Erythrokeratodermia with ataxia133190C1851481OMIM121314415605512
HP:0003829HP:0003829Incomplete penetrance0ELOVL4 CL E G H6785133190Erythrokeratodermia with ataxia133190C1851481OMIM117814415605512
HP:0003829HP:0003829Incomplete penetrance0EYA1 CL E G H2138602588Branchiootic syndrome602588C1865143OMIM14043519601653
HP:0003829HP:0003829Incomplete penetrance0EYA1 CL E G H2138602588Branchiootic syndrome602588C1865143OMIM13673519601653
HP:0003829HP:0003829Incomplete penetrance0EYA1 CL E G H2138113650Melnick-Fraser syndrome113650C0265234OMIM14043519601653
HP:0003829HP:0003829Incomplete penetrance0EYA1 CL E G H2138113650Melnick-Fraser syndrome113650C0265234OMIM13673519601653
HP:0003829HP:0003829Incomplete penetrance0FGF23 CL E G H8074193100Autosomal dominant hypophosphatemic rickets193100C0342642OMIM11773680605380
HP:0003829HP:0003829Incomplete penetrance0FGF23 CL E G H8074193100Autosomal dominant hypophosphatemic rickets193100C0342642OMIM11583680605380
HP:0003829HP:0003829Incomplete penetrance0FGFR1 CL E G H2260147950Kallmann syndrome 2147950C1563720OMIM15973688136350
HP:0003829HP:0003829Incomplete penetrance0FGFR1 CL E G H2260147950Kallmann syndrome 2147950C1563720OMIM15303688136350
HP:0003829HP:0003829Incomplete penetrance0FH CL E G H2271150800Multiple cutaneous leiomyomas150800C1708350OMIM112923700136850
HP:0003829HP:0003829Incomplete penetrance0FH CL E G H2271150800Multiple cutaneous leiomyomas150800C1708350OMIM111363700136850
HP:0003829HP:0003829Incomplete penetrance0FLCN CL E G H201163173600Pneumothorax, primary spontaneous173600C1868193OMIM1143927310607273
HP:0003829HP:0003829Incomplete penetrance0FLCN CL E G H201163173600Pneumothorax, primary spontaneous173600C1868193OMIM1127427310607273
HP:0003829HP:0003829Incomplete penetrance0FMR1 CL E G H2332300624Fragile X syndrome300624C0016667OMIM13223775309550
HP:0003829HP:0003829Incomplete penetrance0FMR1 CL E G H2332300624Fragile X syndrome300624C0016667OMIM13173775309550
HP:0003829HP:0003829Incomplete penetrance0GATA5 CL E G H140628617912CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 5617912CN873437OMIM119615802611496
HP:0003829HP:0003829Incomplete penetrance0GATA5 CL E G H140628617912CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 5617912CN873437OMIM111615802611496
HP:0003829HP:0003829Incomplete penetrance0GJA5 CL E G H27026124741q21.1 recurrent microdeletion612474C2675897OMIM14294279121013
HP:0003829HP:0003829Incomplete penetrance0GJA5 CL E G H27026124741q21.1 recurrent microdeletion612474C2675897OMIM13854279121013
HP:0003829HP:0003829Incomplete penetrance0GJA8 CL E G H27036124741q21.1 recurrent microdeletion612474C2675897OMIM13914281600897
HP:0003829HP:0003829Incomplete penetrance0GJA8 CL E G H27036124741q21.1 recurrent microdeletion612474C2675897OMIM13764281600897
HP:0003829HP:0003829Incomplete penetrance0GJB1 CL E G H2705302800X-linked hereditary motor and sensory neuropathy302800C0393808OMIM17714283304040
HP:0003829HP:0003829Incomplete penetrance0GJB1 CL E G H2705302800X-linked hereditary motor and sensory neuropathy302800C0393808OMIM17324283304040
HP:0003829HP:0003829Incomplete penetrance0GJC2 CL E G H57165613480Lymphedema, hereditary, IC613480C3150732OMIM122117494608803
HP:0003829HP:0003829Incomplete penetrance0GJC2 CL E G H57165613480Lymphedema, hereditary, IC613480C3150732OMIM117417494608803
HP:0003829HP:0003829Incomplete penetrance0GLI2 CL E G H2736615849Culler-Jones syndrome615849C4014479OMIM15184318165230
HP:0003829HP:0003829Incomplete penetrance0GLI2 CL E G H2736615849Culler-Jones syndrome615849C4014479OMIM14694318165230
HP:0003829HP:0003829Incomplete penetrance0GLI2 CL E G H2736610829Holoprosencephaly 9610829C1835819OMIM15184318165230
HP:0003829HP:0003829Incomplete penetrance0GLI2 CL E G H2736610829Holoprosencephaly 9610829C1835819OMIM14694318165230
HP:0003829HP:0003829Incomplete penetrance0GREB1L CL E G H80000617805RENAL HYPODYSPLASIA/APLASIA 3617805C4540497OMIM112031042617782
HP:0003829HP:0003829Incomplete penetrance0GREB1L CL E G H80000617805RENAL HYPODYSPLASIA/APLASIA 3617805C4540497OMIM110631042617782
HP:0003829HP:0003829Incomplete penetrance0GRIN2A CL E G H2903245570Epilepsy, focal, with speech disorder and with or without mental retardation245570C1832814OMIM114014585138253
HP:0003829HP:0003829Incomplete penetrance0GRIN2A CL E G H2903245570Epilepsy, focal, with speech disorder and with or without mental retardation245570C1832814OMIM112694585138253
HP:0003829HP:0003829Incomplete penetrance0HNRNPDL CL E G H9987609115Limb-girdle muscular dystrophy, type 1G609115C1836765OMIM12045037607137
HP:0003829HP:0003829Incomplete penetrance0HNRNPDL CL E G H9987609115Limb-girdle muscular dystrophy, type 1G609115C1836765OMIM11585037607137
HP:0003829HP:0003829Incomplete penetrance0IFIH1 CL E G H64135615846Aicardi-Goutieres syndrome 7615846C3888244OMIM171818873606951
HP:0003829HP:0003829Incomplete penetrance0IFIH1 CL E G H64135615846Aicardi-Goutieres syndrome 7615846C3888244OMIM147618873606951
HP:0003829HP:0003829Incomplete penetrance0IKZF1 CL E G H10320616873Immunodeficiency, common variable, 13616873C4225173OMIM18513176603023
HP:0003829HP:0003829Incomplete penetrance0IKZF1 CL E G H10320616873Immunodeficiency, common variable, 13616873C4225173OMIM16913176603023
HP:0003829HP:0003829Incomplete penetrance0JAG1 CL E G H182118450Alagille syndrome 1118450C1956125OMIM110686188601920
HP:0003829HP:0003829Incomplete penetrance0JAG1 CL E G H182118450Alagille syndrome 1118450C1956125OMIM19066188601920
HP:0003829HP:0003829Incomplete penetrance0KCNK3 CL E G H3777615344Primary pulmonary hypertension 4615344C3809198OMIM11196278603220
HP:0003829HP:0003829Incomplete penetrance0KCNK3 CL E G H3777615344Primary pulmonary hypertension 4615344C3809198OMIM1996278603220
HP:0003829HP:0003829Incomplete penetrance0KIF11 CL E G H3832152950Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation152950C1835265OMIM14986388148760
HP:0003829HP:0003829Incomplete penetrance0KIF11 CL E G H3832152950Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation152950C1835265OMIM14056388148760
HP:0003829HP:0003829Incomplete penetrance0KMT2B CL E G H9757617284Dystonia 28, childhood-onset617284C4310633OMIM145615840606834
HP:0003829HP:0003829Incomplete penetrance0KMT2B CL E G H9757617284Dystonia 28, childhood-onset617284C4310633OMIM138415840606834
HP:0003829HP:0003829Incomplete penetrance0KRIT1 CL E G H889116860Cerebral cavernous malformation116860C2919945OMIM14511573604214
HP:0003829HP:0003829Incomplete penetrance0KRIT1 CL E G H889116860Cerebral cavernous malformation116860C2919945OMIM13991573604214
HP:0003829HP:0003829Incomplete penetrance0LGI1 CL E G H9211600512Epilepsy, lateral temporal lobe, autosomal dominant600512C1838062OMIM13196572604619
HP:0003829HP:0003829Incomplete penetrance0LGI1 CL E G H9211600512Epilepsy, lateral temporal lobe, autosomal dominant600512C1838062OMIM12726572604619
HP:0003829HP:0003829Incomplete penetrance0LRP5 CL E G H4041617875POLYCYSTIC LIVER DISEASE 4 WITH OR WITHOUT KIDNEY CYSTS617875CN818987OMIM111276697603506
HP:0003829HP:0003829Incomplete penetrance0LRP5 CL E G H4041617875POLYCYSTIC LIVER DISEASE 4 WITH OR WITHOUT KIDNEY CYSTS617875CN818987OMIM18616697603506
HP:0003829HP:0003829Incomplete penetrance0LRSAM1 CL E G H90678614436Charcot-Marie-Tooth disease type 2P614436C3280797OMIM162725135610933
HP:0003829HP:0003829Incomplete penetrance0LRSAM1 CL E G H90678614436Charcot-Marie-Tooth disease type 2P614436C3280797OMIM156325135610933
HP:0003829HP:0003829Incomplete penetrance0MED13L CL E G H23389608808Transposition of the great arteries, dextro-looped 1608808C1837341OMIM159622962608771
HP:0003829HP:0003829Incomplete penetrance0MED13L CL E G H23389608808Transposition of the great arteries, dextro-looped 1608808C1837341OMIM156622962608771
HP:0003829HP:0003829Incomplete penetrance0MET CL E G H4233605074Renal cell carcinoma, papillary, 1605074C0007134OMIM119737029164860
HP:0003829HP:0003829Incomplete penetrance0MET CL E G H4233605074Renal cell carcinoma, papillary, 1605074C0007134OMIM116507029164860
HP:0003829HP:0003829Incomplete penetrance0MFN2 CL E G H9927609260Charcot-Marie-Tooth disease, type 2A2A609260C1836485OMIM194416877608507
HP:0003829HP:0003829Incomplete penetrance0MFN2 CL E G H9927609260Charcot-Marie-Tooth disease, type 2A2A609260C1836485OMIM182416877608507
HP:0003829HP:0003829Incomplete penetrance0MICAL1 CL E G H64780600512Epilepsy, lateral temporal lobe, autosomal dominant600512C1838062OMIM114020619607129
HP:0003829HP:0003829Incomplete penetrance0MICAL1 CL E G H64780600512Epilepsy, lateral temporal lobe, autosomal dominant600512C1838062OMIM15320619607129
HP:0003829HP:0003829Incomplete penetrance0MN1 CL E G H4330607174Meningioma, familial607174C1333989OMIM1787180156100
HP:0003829HP:0003829Incomplete penetrance0MN1 CL E G H4330607174Meningioma, familial607174C1333989OMIM1767180156100
HP:0003829HP:0003829Incomplete penetrance0MNX1 CL E G H3110176450Currarino triad176450C1531773OMIM11814979142994
HP:0003829HP:0003829Incomplete penetrance0MNX1 CL E G H3110176450Currarino triad176450C1531773OMIM11294979142994
HP:0003829HP:0003829Incomplete penetrance0MSH6 CL E G H2956614350Hereditary nonpolyposis colorectal cancer type 5614350C1833477OMIM162197329600678
HP:0003829HP:0003829Incomplete penetrance0MSH6 CL E G H2956614350Hereditary nonpolyposis colorectal cancer type 5614350C1833477OMIM157177329600678
HP:0003829HP:0003829Incomplete penetrance0MT-ATP6 CL E G H4508535000Leber's optic atrophy535000C0917796OMIM17414516060
HP:0003829HP:0003829Incomplete penetrance0MT-CO3 CL E G H4514535000Leber's optic atrophy535000C0917796OMIM17422516050
HP:0003829HP:0003829Incomplete penetrance0MT-CYB CL E G H4519535000Leber's optic atrophy535000C0917796OMIM17427516020
HP:0003829HP:0003829Incomplete penetrance0MT-ND1 CL E G H4535535000Leber's optic atrophy535000C0917796OMIM17455516000
HP:0003829HP:0003829Incomplete penetrance0MT-ND2 CL E G H4536535000Leber's optic atrophy535000C0917796OMIM17456516001
HP:0003829HP:0003829Incomplete penetrance0MT-ND4 CL E G H4538535000Leber's optic atrophy535000C0917796OMIM17459516003
HP:0003829HP:0003829Incomplete penetrance0MT-ND4L CL E G H4539535000Leber's optic atrophy535000C0917796OMIM17460516004
HP:0003829HP:0003829Incomplete penetrance0MT-ND5 CL E G H4540535000Leber's optic atrophy535000C0917796OMIM17461516005
HP:0003829HP:0003829Incomplete penetrance0MT-ND6 CL E G H4541535000Leber's optic atrophy535000C0917796OMIM17462516006
HP:0003829HP:0003829Incomplete penetrance0NEXMIF CL E G H340533300912Mental retardation, X-linked 98300912C3806730OMIM173629433300524
HP:0003829HP:0003829Incomplete penetrance0NEXMIF CL E G H340533300912Mental retardation, X-linked 98300912C3806730OMIM165029433300524
HP:0003829HP:0003829Incomplete penetrance0NF2 CL E G H4771607174Meningioma, familial607174C1333989OMIM111677773607379
HP:0003829HP:0003829Incomplete penetrance0NF2 CL E G H4771607174Meningioma, familial607174C1333989OMIM110167773607379
HP:0003829HP:0003829Incomplete penetrance0NF2 CL E G H4771162091Schwannomatosis 1162091C4048809OMIM111677773607379
HP:0003829HP:0003829Incomplete penetrance0NF2 CL E G H4771162091Schwannomatosis 1162091C4048809OMIM110167773607379
HP:0003829HP:0003829Incomplete penetrance0NLRP12 CL E G H91662611762Familial cold autoinflammatory syndrome 2611762C2673198OMIM173322938609648
HP:0003829HP:0003829Incomplete penetrance0NLRP12 CL E G H91662611762Familial cold autoinflammatory syndrome 2611762C2673198OMIM159722938609648
HP:0003829HP:0003829Incomplete penetrance0NME1 CL E G H4830256700Neuroblastoma256700C0027819OMIM1147849156490
HP:0003829HP:0003829Incomplete penetrance0NPRL2 CL E G H10641617116Epilepsy, familial focal, with variable foci 2617116C4310709OMIM14824969607072
HP:0003829HP:0003829Incomplete penetrance0NPRL2 CL E G H10641617116Epilepsy, familial focal, with variable foci 2617116C4310709OMIM14524969607072
HP:0003829HP:0003829Incomplete penetrance0NPRL3 CL E G H8131617118Epilepsy, familial focal, with variable foci 3617118C4310708OMIM168114124600928
HP:0003829HP:0003829Incomplete penetrance0NPRL3 CL E G H8131617118Epilepsy, familial focal, with variable foci 3617118C4310708OMIM157114124600928
HP:0003829HP:0003829Incomplete penetrance0NR5A1 CL E G H251661748046,XX sex reversal 4617480C4479552OMIM11777983184757
HP:0003829HP:0003829Incomplete penetrance0NR5A1 CL E G H251661748046,XX sex reversal 4617480C4479552OMIM11617983184757
HP:0003829HP:0003829Incomplete penetrance0NRIP1 CL E G H8204618270618270618270OMIM1938001602490
HP:0003829HP:0003829Incomplete penetrance0NRIP1 CL E G H8204618270618270618270OMIM1888001602490
HP:0003829HP:0003829Incomplete penetrance0OPA1 CL E G H4976165500Dominant hereditary optic atrophy165500C0338508OMIM17398140605290
HP:0003829HP:0003829Incomplete penetrance0OPA1 CL E G H4976165500Dominant hereditary optic atrophy165500C0338508OMIM15988140605290
HP:0003829HP:0003829Incomplete penetrance0PARN CL E G H5073616371Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4616371C4225347OMIM13568609604212
HP:0003829HP:0003829Incomplete penetrance0PARN CL E G H5073616371Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4616371C4225347OMIM12668609604212
HP:0003829HP:0003829Incomplete penetrance0PAX2 CL E G H5076616002Focal segmental glomerulosclerosis 7616002C4014925OMIM12508616167409
HP:0003829HP:0003829Incomplete penetrance0PAX2 CL E G H5076616002Focal segmental glomerulosclerosis 7616002C4014925OMIM11948616167409
HP:0003829HP:0003829Incomplete penetrance0PDGFB CL E G H5155607174Meningioma, familial607174C1333989OMIM1958800190040
HP:0003829HP:0003829Incomplete penetrance0PDGFB CL E G H5155607174Meningioma, familial607174C1333989OMIM1938800190040
HP:0003829HP:0003829Incomplete penetrance0PITX1 CL E G H5307119800Talipes equinovarus119800C0009081OMIM1529004602149
HP:0003829HP:0003829Incomplete penetrance0PITX1 CL E G H5307119800Talipes equinovarus119800C0009081OMIM1499004602149
HP:0003829HP:0003829Incomplete penetrance0PKD2 CL E G H5311613095Polycystic kidney disease 2613095C2751306OMIM15929009173910
HP:0003829HP:0003829Incomplete penetrance0PKD2 CL E G H5311613095Polycystic kidney disease 2613095C2751306OMIM15179009173910
HP:0003829HP:0003829Incomplete penetrance0PRCC CL E G H5546605074Renal cell carcinoma, papillary, 1605074C0007134OMIM1169343179755
HP:0003829HP:0003829Incomplete penetrance0PRCC CL E G H5546605074Renal cell carcinoma, papillary, 1605074C0007134OMIM1129343179755
HP:0003829HP:0003829Incomplete penetrance0PRKCG CL E G H5582605361Spinocerebellar ataxia 14605361C1854369OMIM12719402176980
HP:0003829HP:0003829Incomplete penetrance0PRKCG CL E G H5582605361Spinocerebellar ataxia 14605361C1854369OMIM12619402176980
HP:0003829HP:0003829Incomplete penetrance0PROK2 CL E G H60675610628Hypogonadotropic hypogonadism 4 with or without anosmia610628C1857720OMIM15418455607002
HP:0003829HP:0003829Incomplete penetrance0PROK2 CL E G H60675610628Hypogonadotropic hypogonadism 4 with or without anosmia610628C1857720OMIM15018455607002
HP:0003829HP:0003829Incomplete penetrance0PROKR2 CL E G H128674244200Kallmann syndrome 3244200C2930927OMIM112715836607123
HP:0003829HP:0003829Incomplete penetrance0PROKR2 CL E G H128674244200Kallmann syndrome 3244200C2930927OMIM112015836607123
HP:0003829HP:0003829Incomplete penetrance0PRPF31 CL E G H26121600138Retinitis pigmentosa 11600138C1838601OMIM141315446606419
HP:0003829HP:0003829Incomplete penetrance0PRPF31 CL E G H26121600138Retinitis pigmentosa 11600138C1838601OMIM129315446606419
HP:0003829HP:0003829Incomplete penetrance0PRPF8 CL E G H10594600059Retinitis pigmentosa 13600059C1838702OMIM171317340607300
HP:0003829HP:0003829Incomplete penetrance0PRPF8 CL E G H10594600059Retinitis pigmentosa 13600059C1838702OMIM160017340607300
HP:0003829HP:0003829Incomplete penetrance0PRRT2 CL E G H112476128200Dystonia 10128200C1868682OMIM165930500614386
HP:0003829HP:0003829Incomplete penetrance0PRRT2 CL E G H112476128200Dystonia 10128200C1868682OMIM159730500614386
HP:0003829HP:0003829Incomplete penetrance0PRRT2 CL E G H112476605751Seizures, benign familial infantile, 2605751C1853995OMIM165930500614386
HP:0003829HP:0003829Incomplete penetrance0PRRT2 CL E G H112476605751Seizures, benign familial infantile, 2605751C1853995OMIM159730500614386
HP:0003829HP:0003829Incomplete penetrance0PTCH1 CL E G H5727610828Holoprosencephaly 7610828C1835820OMIM129889585601309
HP:0003829HP:0003829Incomplete penetrance0PTCH1 CL E G H5727610828Holoprosencephaly 7610828C1835820OMIM126289585601309
HP:0003829HP:0003829Incomplete penetrance0PTCH2 CL E G H8643155255Medulloblastoma155255C0025149OMIM15419586603673
HP:0003829HP:0003829Incomplete penetrance0PTCH2 CL E G H8643155255Medulloblastoma155255C0025149OMIM14269586603673
HP:0003829HP:0003829Incomplete penetrance0PUM1 CL E G H9698617931SPINOCEREBELLAR ATAXIA 47617931CN244564OMIM18814957607204
HP:0003829HP:0003829Incomplete penetrance0PUM1 CL E G H9698617931SPINOCEREBELLAR ATAXIA 47617931CN244564OMIM18614957607204
HP:0003829HP:0003829Incomplete penetrance0RELN CL E G H5649600512Epilepsy, lateral temporal lobe, autosomal dominant600512C1838062OMIM121239957600514
HP:0003829HP:0003829Incomplete penetrance0RELN CL E G H5649600512Epilepsy, lateral temporal lobe, autosomal dominant600512C1838062OMIM118109957600514
HP:0003829HP:0003829Incomplete penetrance0RPS29 CL E G H6235615909Diamond-Blackfan anemia 13615909C4014641OMIM12710419603633
HP:0003829HP:0003829Incomplete penetrance0RPS29 CL E G H6235615909Diamond-Blackfan anemia 13615909C4014641OMIM12110419603633
HP:0003829HP:0003829Incomplete penetrance0RTEL1 CL E G H51750616373Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3616373C4225346OMIM1160515888608833
HP:0003829HP:0003829Incomplete penetrance0RTEL1 CL E G H51750616373Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3616373C4225346OMIM1133915888608833
HP:0003829HP:0003829Incomplete penetrance0SCN1B CL E G H6324604233Generalized epilepsy with febrile seizures plus, type 1604233C1858672OMIM140210586600235
HP:0003829HP:0003829Incomplete penetrance0SCN1B CL E G H6324604233Generalized epilepsy with febrile seizures plus, type 1604233C1858672OMIM135310586600235
HP:0003829HP:0003829Incomplete penetrance0SCN4A CL E G H6329170400Hypokalemic periodic paralysis 1170400C3714580OMIM1124110591603967
HP:0003829HP:0003829Incomplete penetrance0SCN4A CL E G H6329170400Hypokalemic periodic paralysis 1170400C3714580OMIM1108110591603967
HP:0003829HP:0003829Incomplete penetrance0SDHB CL E G H6390115310Paragangliomas 4115310C1861848OMIM192610681185470
HP:0003829HP:0003829Incomplete penetrance0SDHB CL E G H6390115310Paragangliomas 4115310C1861848OMIM182410681185470
HP:0003829HP:0003829Incomplete penetrance0SFTPC CL E G H6440610913Surfactant metabolism dysfunction, pulmonary, 2610913C1970470OMIM115810802178620
HP:0003829HP:0003829Incomplete penetrance0SFTPC CL E G H6440610913Surfactant metabolism dysfunction, pulmonary, 2610913C1970470OMIM115210802178620
HP:0003829HP:0003829Incomplete penetrance0SGCE CL E G H8910159900Myoclonic dystonia159900C1834570OMIM140610808604149
HP:0003829HP:0003829Incomplete penetrance0SGCE CL E G H8910159900Myoclonic dystonia159900C1834570OMIM133910808604149
HP:0003829HP:0003829Incomplete penetrance0SHH CL E G H6469142945Holoprosencephaly 3142945C1840529OMIM128310848600725
HP:0003829HP:0003829Incomplete penetrance0SHH CL E G H6469142945Holoprosencephaly 3142945C1840529OMIM124510848600725
HP:0003829HP:0003829Incomplete penetrance0SHH CL E G H6469611638Microphthalmia, isolated, with coloboma 5611638C1968843OMIM128310848600725
HP:0003829HP:0003829Incomplete penetrance0SHH CL E G H6469611638Microphthalmia, isolated, with coloboma 5611638C1968843OMIM124510848600725
HP:0003829HP:0003829Incomplete penetrance0SIX1 CL E G H6495113650Melnick-Fraser syndrome113650C0265234OMIM114310887601205
HP:0003829HP:0003829Incomplete penetrance0SIX1 CL E G H6495113650Melnick-Fraser syndrome113650C0265234OMIM113610887601205
HP:0003829HP:0003829Incomplete penetrance0SIX3 CL E G H6496157170Holoprosencephaly 2157170C1834877OMIM111810889603714
HP:0003829HP:0003829Incomplete penetrance0SIX3 CL E G H6496157170Holoprosencephaly 2157170C1834877OMIM110410889603714
HP:0003829HP:0003829Incomplete penetrance0SLC2A1 CL E G H6513612126GLUT1 deficiency syndrome 2612126C1842534OMIM175311005138140
HP:0003829HP:0003829Incomplete penetrance0SLC2A1 CL E G H6513612126GLUT1 deficiency syndrome 2612126C1842534OMIM167211005138140
HP:0003829HP:0003829Incomplete penetrance0SMAD9 CL E G H4093615342Primary pulmonary hypertension 2615342C3888002OMIM11426774603295
HP:0003829HP:0003829Incomplete penetrance0SMAD9 CL E G H4093615342Primary pulmonary hypertension 2615342C3888002OMIM11336774603295
HP:0003829HP:0003829Incomplete penetrance0STAT1 CL E G H6772614892Immunodeficiency 31a614892C4013950OMIM136811362600555
HP:0003829HP:0003829Incomplete penetrance0STAT1 CL E G H6772614892Immunodeficiency 31a614892C4013950OMIM131411362600555
HP:0003829HP:0003829Incomplete penetrance0SUFU CL E G H51684155255Medulloblastoma155255C0025149OMIM181516466607035
HP:0003829HP:0003829Incomplete penetrance0SUFU CL E G H51684155255Medulloblastoma155255C0025149OMIM170316466607035
HP:0003829HP:0003829Incomplete penetrance0TRPV4 CL E G H59341606071Charcot-Marie-Tooth disease type 2C606071C2079540OMIM178118083605427
HP:0003829HP:0003829Incomplete penetrance0TRPV4 CL E G H59341606071Charcot-Marie-Tooth disease type 2C606071C2079540OMIM170318083605427
HP:0003829HP:0003829Incomplete penetrance0TRPV4 CL E G H59341600175Distal spinal muscular atrophy, congenital nonprogressive600175C1838492OMIM178118083605427
HP:0003829HP:0003829Incomplete penetrance0TRPV4 CL E G H59341600175Distal spinal muscular atrophy, congenital nonprogressive600175C1838492OMIM170318083605427
HP:0003829HP:0003829Incomplete penetrance0TRPV4 CL E G H59341181405Scapuloperoneal spinal muscular atrophy181405C0751335OMIM178118083605427
HP:0003829HP:0003829Incomplete penetrance0TRPV4 CL E G H59341181405Scapuloperoneal spinal muscular atrophy181405C0751335OMIM170318083605427
HP:0003829HP:0003829Incomplete penetrance0TTN CL E G H7273600334Distal myopathy Markesbery-Griggs type600334C1838244OMIM11902812403188840
HP:0003829HP:0003829Incomplete penetrance0TTN CL E G H7273600334Distal myopathy Markesbery-Griggs type600334C1838244OMIM11798412403188840
HP:0003829HP:0003829Incomplete penetrance0VMA21 CL E G H203547310440Myopathy, X-linked, with excessive autophagy310440C1839615OMIM123022082300913
HP:0003829HP:0003829Incomplete penetrance0VMA21 CL E G H203547310440Myopathy, X-linked, with excessive autophagy310440C1839615OMIM122322082300913
HP:0003829HP:0003829Incomplete penetrance0VWF CL E G H7450193400von Willebrand disease type 1193400C1264039OMIM1114012726613160
HP:0003829HP:0003829Incomplete penetrance0VWF CL E G H7450193400von Willebrand disease type 1193400C1264039OMIM1110112726613160
HP:0003829HP:0003829Incomplete penetrance0WNT10B CL E G H7480225300Split-hand/foot malformation 6225300C2749665OMIM15012775601906
HP:0003829HP:0003829Incomplete penetrance0WNT10B CL E G H7480225300Split-hand/foot malformation 6225300C2749665OMIM14512775601906
HP:0003829HP:0003831Age-dependent penetrance1ACTN4 CL E G H81603278Focal segmental glomerulosclerosis 1603278C0333497OMIM1191166604638
HP:0003829HP:0003831Age-dependent penetrance1ACTN4 CL E G H81603278Focal segmental glomerulosclerosis 1603278C0333497OMIM1169166604638
HP:0003829HP:0003831Age-dependent penetrance1ANO3 CL E G H63982615034Dystonia 24615034C3554374OMIM132714004610110
HP:0003829HP:0003831Age-dependent penetrance1ANO3 CL E G H63982615034Dystonia 24615034C3554374OMIM130714004610110
HP:0003829HP:0003831Age-dependent penetrance1ANXA11 CL E G H311617839AMYOTROPHIC LATERAL SCLEROSIS 23617839CN778765OMIM1150535602572
HP:0003829HP:0003831Age-dependent penetrance1ANXA11 CL E G H311617839AMYOTROPHIC LATERAL SCLEROSIS 23617839CN778765OMIM193535602572
HP:0003829HP:0003831Age-dependent penetrance1ATL1 CL E G H51062182600Spastic paraplegia 3182600C2931355OMIM135611231606439
HP:0003829HP:0003831Age-dependent penetrance1ATL1 CL E G H51062182600Spastic paraplegia 3182600C2931355OMIM131011231606439
HP:0003829HP:0003831Age-dependent penetrance1ATP1A2 CL E G H477602481Familial hemiplegic migraine type 2602481C1865322OMIM1801800182340
HP:0003829HP:0003831Age-dependent penetrance1ATP1A2 CL E G H477602481Familial hemiplegic migraine type 2602481C1865322OMIM1726800182340
HP:0003829HP:0003831Age-dependent penetrance1ATP1A3 CL E G H478128235Dystonia 12128235C1868681OMIM1687801182350
HP:0003829HP:0003831Age-dependent penetrance1ATP1A3 CL E G H478128235Dystonia 12128235C1868681OMIM1625801182350
HP:0003829HP:0003831Age-dependent penetrance1ATXN10 CL E G H25814603516Spinocerebellar ataxia 10603516C1963674OMIM110110549611150
HP:0003829HP:0003831Age-dependent penetrance1ATXN10 CL E G H25814603516Spinocerebellar ataxia 10603516C1963674OMIM19910549611150
HP:0003829HP:0003831Age-dependent penetrance1BMPR2 CL E G H659178600Primary pulmonary hypertension178600C0152171OMIM18961078600799
HP:0003829HP:0003831Age-dependent penetrance1BMPR2 CL E G H659178600Primary pulmonary hypertension178600C0152171OMIM18461078600799
HP:0003829HP:0003831Age-dependent penetrance1CACNA1A CL E G H773108500Episodic ataxia type 2108500C1720416OMIM123261388601011
HP:0003829HP:0003831Age-dependent penetrance1CACNA1A CL E G H773108500Episodic ataxia type 2108500C1720416OMIM120471388601011
HP:0003829HP:0003831Age-dependent penetrance1CACNA1S CL E G H779170400Hypokalemic periodic paralysis 1170400C3714580OMIM113271397114208
HP:0003829HP:0003831Age-dependent penetrance1CACNA1S CL E G H779170400Hypokalemic periodic paralysis 1170400C3714580OMIM111541397114208
HP:0003829HP:0003831Age-dependent penetrance1CACNB4 CL E G H785613855Episodic ataxia, type 5613855C1866039OMIM13051404601949
HP:0003829HP:0003831Age-dependent penetrance1CACNB4 CL E G H785613855Episodic ataxia, type 5613855C1866039OMIM13001404601949
HP:0003829HP:0003831Age-dependent penetrance1CAV1 CL E G H857615343Primary pulmonary hypertension 3615343C3809192OMIM1851527601047
HP:0003829HP:0003831Age-dependent penetrance1CAV1 CL E G H857615343Primary pulmonary hypertension 3615343C3809192OMIM1811527601047
HP:0003829HP:0003831Age-dependent penetrance1CFC1 CL E G H55997605376Heterotaxy, visceral, 2, autosomal605376C1415817OMIM13618292605194
HP:0003829HP:0003831Age-dependent penetrance1CFC1 CL E G H55997605376Heterotaxy, visceral, 2, autosomal605376C1415817OMIM13418292605194
HP:0003829HP:0003831Age-dependent penetrance1CHRNA2 CL E G H1135610353Epilepsy, nocturnal frontal lobe, type 4610353C1835905OMIM15891956118502
HP:0003829HP:0003831Age-dependent penetrance1CHRNA2 CL E G H1135610353Epilepsy, nocturnal frontal lobe, type 4610353C1835905OMIM15401956118502
HP:0003829HP:0003831Age-dependent penetrance1CHRNA4 CL E G H1137600513Epilepsy, nocturnal frontal lobe, type 1600513C1838049OMIM18161958118504
HP:0003829HP:0003831Age-dependent penetrance1CHRNA4 CL E G H1137600513Epilepsy, nocturnal frontal lobe, type 1600513C1838049OMIM17431958118504
HP:0003829HP:0003831Age-dependent penetrance1CLCN2 CL E G H1181605635Hyperaldosteronism, familial, type II605635C1854107OMIM11942020600570
HP:0003829HP:0003831Age-dependent penetrance1CLCN2 CL E G H1181605635Hyperaldosteronism, familial, type II605635C1854107OMIM11632020600570
HP:0003829HP:0003831Age-dependent penetrance1COL4A2 CL E G H1284614483Porencephaly 2614483C3280970OMIM18572203120090
HP:0003829HP:0003831Age-dependent penetrance1COL4A2 CL E G H1284614483Porencephaly 2614483C3280970OMIM17642203120090
HP:0003829HP:0003831Age-dependent penetrance1CPOX CL E G H1371121300Hereditary coproporphyria121300C0162531OMIM11972321612732
HP:0003829HP:0003831Age-dependent penetrance1CPOX CL E G H1371121300Hereditary coproporphyria121300C0162531OMIM11692321612732
HP:0003829HP:0003831Age-dependent penetrance1CRELD1 CL E G H78987606217Atrioventricular septal defect 2606217C1853508OMIM113714630607170
HP:0003829HP:0003831Age-dependent penetrance1CRELD1 CL E G H78987606217Atrioventricular septal defect 2606217C1853508OMIM112414630607170
HP:0003829HP:0003831Age-dependent penetrance1CTLA4 CL E G H1493616100Autoimmune lymphoproliferatiVe syndrome, type V616100C4015214OMIM11722505123890
HP:0003829HP:0003831Age-dependent penetrance1CTLA4 CL E G H1493616100Autoimmune lymphoproliferatiVe syndrome, type V616100C4015214OMIM11462505123890
HP:0003829HP:0003831Age-dependent penetrance1CTNNB1 CL E G H1499155255Medulloblastoma155255C0025149OMIM13642514116806
HP:0003829HP:0003831Age-dependent penetrance1CTNNB1 CL E G H1499155255Medulloblastoma155255C0025149OMIM12692514116806
HP:0003829HP:0003831Age-dependent penetrance1DCC CL E G H1630157600Mirror movements 1157600C1834870OMIM11622701120470
HP:0003829HP:0003831Age-dependent penetrance1DCC CL E G H1630157600Mirror movements 1157600C1834870OMIM11602701120470
HP:0003829HP:0003831Age-dependent penetrance1DCX CL E G H1641300067Lissencephaly, X-linked300067C1848199OMIM13682714300121
HP:0003829HP:0003831Age-dependent penetrance1DCX CL E G H1641300067Lissencephaly, X-linked300067C1848199OMIM13572714300121
HP:0003829HP:0003831Age-dependent penetrance1DEPDC5 CL E G H9681604364Epilepsy, familial focal, with variable foci 1604364C1858477OMIM1140018423614191
HP:0003829HP:0003831Age-dependent penetrance1DEPDC5 CL E G H9681604364Epilepsy, familial focal, with variable foci 1604364C1858477OMIM1118618423614191
HP:0003829HP:0003831Age-dependent penetrance1DSTYK CL E G H25778610805Congenital anomalies of kidney and urinary tract 1, susceptibility to610805C1835826OMIM18629043612666
HP:0003829HP:0003831Age-dependent penetrance1DSTYK CL E G H25778610805Congenital anomalies of kidney and urinary tract 1, susceptibility to610805C1835826OMIM17529043612666
HP:0003829HP:0003831Age-dependent penetrance1ELOVL4 CL E G H6785133190Erythrokeratodermia with ataxia133190C1851481OMIM121314415605512
HP:0003829HP:0003831Age-dependent penetrance1ELOVL4 CL E G H6785133190Erythrokeratodermia with ataxia133190C1851481OMIM117814415605512
HP:0003829HP:0003831Age-dependent penetrance1EYA1 CL E G H2138602588Branchiootic syndrome602588C1865143OMIM14043519601653
HP:0003829HP:0003831Age-dependent penetrance1EYA1 CL E G H2138602588Branchiootic syndrome602588C1865143OMIM13673519601653
HP:0003829HP:0003831Age-dependent penetrance1EYA1 CL E G H2138113650Melnick-Fraser syndrome113650C0265234OMIM14043519601653
HP:0003829HP:0003831Age-dependent penetrance1EYA1 CL E G H2138113650Melnick-Fraser syndrome113650C0265234OMIM13673519601653
HP:0003829HP:0003831Age-dependent penetrance1FGF23 CL E G H8074193100Autosomal dominant hypophosphatemic rickets193100C0342642OMIM11773680605380
HP:0003829HP:0003831Age-dependent penetrance1FGF23 CL E G H8074193100Autosomal dominant hypophosphatemic rickets193100C0342642OMIM11583680605380
HP:0003829HP:0003831Age-dependent penetrance1FGFR1 CL E G H2260147950Kallmann syndrome 2147950C1563720OMIM15973688136350
HP:0003829HP:0003831Age-dependent penetrance1FGFR1 CL E G H2260147950Kallmann syndrome 2147950C1563720OMIM15303688136350
HP:0003829HP:0003831Age-dependent penetrance1FH CL E G H2271150800Multiple cutaneous leiomyomas150800C1708350OMIM112923700136850
HP:0003829HP:0003831Age-dependent penetrance1FH CL E G H2271150800Multiple cutaneous leiomyomas150800C1708350OMIM111363700136850
HP:0003829HP:0003831Age-dependent penetrance1FLCN CL E G H201163173600Pneumothorax, primary spontaneous173600C1868193OMIM1143927310607273
HP:0003829HP:0003831Age-dependent penetrance1FLCN CL E G H201163173600Pneumothorax, primary spontaneous173600C1868193OMIM1127427310607273
HP:0003829HP:0003831Age-dependent penetrance1FMR1 CL E G H2332300624Fragile X syndrome300624C0016667OMIM13223775309550
HP:0003829HP:0003831Age-dependent penetrance1FMR1 CL E G H2332300624Fragile X syndrome300624C0016667OMIM13173775309550
HP:0003829HP:0003831Age-dependent penetrance1GATA5 CL E G H140628617912CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 5617912CN873437OMIM119615802611496
HP:0003829HP:0003831Age-dependent penetrance1GATA5 CL E G H140628617912CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 5617912CN873437OMIM111615802611496
HP:0003829HP:0003831Age-dependent penetrance1GJA5 CL E G H27026124741q21.1 recurrent microdeletion612474C2675897OMIM14294279121013
HP:0003829HP:0003831Age-dependent penetrance1GJA5 CL E G H27026124741q21.1 recurrent microdeletion612474C2675897OMIM13854279121013
HP:0003829HP:0003831Age-dependent penetrance1GJA8 CL E G H27036124741q21.1 recurrent microdeletion612474C2675897OMIM13914281600897
HP:0003829HP:0003831Age-dependent penetrance1GJA8 CL E G H27036124741q21.1 recurrent microdeletion612474C2675897OMIM13764281600897
HP:0003829HP:0003831Age-dependent penetrance1GJB1 CL E G H2705302800X-linked hereditary motor and sensory neuropathy302800C0393808OMIM17714283304040
HP:0003829HP:0003831Age-dependent penetrance1GJB1 CL E G H2705302800X-linked hereditary motor and sensory neuropathy302800C0393808OMIM17324283304040
HP:0003829HP:0003831Age-dependent penetrance1GJC2 CL E G H57165613480Lymphedema, hereditary, IC613480C3150732OMIM122117494608803
HP:0003829HP:0003831Age-dependent penetrance1GJC2 CL E G H57165613480Lymphedema, hereditary, IC613480C3150732OMIM117417494608803
HP:0003829HP:0003831Age-dependent penetrance1GLI2 CL E G H2736615849Culler-Jones syndrome615849C4014479OMIM15184318165230
HP:0003829HP:0003831Age-dependent penetrance1GLI2 CL E G H2736615849Culler-Jones syndrome615849C4014479OMIM14694318165230
HP:0003829HP:0003831Age-dependent penetrance1GLI2 CL E G H2736610829Holoprosencephaly 9610829C1835819OMIM15184318165230
HP:0003829HP:0003831Age-dependent penetrance1GLI2 CL E G H2736610829Holoprosencephaly 9610829C1835819OMIM14694318165230
HP:0003829HP:0003831Age-dependent penetrance1GREB1L CL E G H80000617805RENAL HYPODYSPLASIA/APLASIA 3617805C4540497OMIM112031042617782
HP:0003829HP:0003831Age-dependent penetrance1GREB1L CL E G H80000617805RENAL HYPODYSPLASIA/APLASIA 3617805C4540497OMIM110631042617782
HP:0003829HP:0003831Age-dependent penetrance1GRIN2A CL E G H2903245570Epilepsy, focal, with speech disorder and with or without mental retardation245570C1832814OMIM114014585138253
HP:0003829HP:0003831Age-dependent penetrance1GRIN2A CL E G H2903245570Epilepsy, focal, with speech disorder and with or without mental retardation245570C1832814OMIM112694585138253
HP:0003829HP:0003831Age-dependent penetrance1HNRNPDL CL E G H9987609115Limb-girdle muscular dystrophy, type 1G609115C1836765OMIM12045037607137
HP:0003829HP:0003831Age-dependent penetrance1HNRNPDL CL E G H9987609115Limb-girdle muscular dystrophy, type 1G609115C1836765OMIM11585037607137
HP:0003829HP:0003831Age-dependent penetrance1IFIH1 CL E G H64135615846Aicardi-Goutieres syndrome 7615846C3888244OMIM171818873606951
HP:0003829HP:0003831Age-dependent penetrance1IFIH1 CL E G H64135615846Aicardi-Goutieres syndrome 7615846C3888244OMIM147618873606951
HP:0003829HP:0003831Age-dependent penetrance1IKZF1 CL E G H10320616873Immunodeficiency, common variable, 13616873C4225173OMIM18513176603023
HP:0003829HP:0003831Age-dependent penetrance1IKZF1 CL E G H10320616873Immunodeficiency, common variable, 13616873C4225173OMIM16913176603023
HP:0003829HP:0003831Age-dependent penetrance1JAG1 CL E G H182118450Alagille syndrome 1118450C1956125OMIM110686188601920
HP:0003829HP:0003831Age-dependent penetrance1JAG1 CL E G H182118450Alagille syndrome 1118450C1956125OMIM19066188601920
HP:0003829HP:0003831Age-dependent penetrance1KCNK3 CL E G H3777615344Primary pulmonary hypertension 4615344C3809198OMIM11196278603220
HP:0003829HP:0003831Age-dependent penetrance1KCNK3 CL E G H3777615344Primary pulmonary hypertension 4615344C3809198OMIM1996278603220
HP:0003829HP:0003831Age-dependent penetrance1KIF11 CL E G H3832152950Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation152950C1835265OMIM14986388148760
HP:0003829HP:0003831Age-dependent penetrance1KIF11 CL E G H3832152950Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation152950C1835265OMIM14056388148760
HP:0003829HP:0003831Age-dependent penetrance1KMT2B CL E G H9757617284Dystonia 28, childhood-onset617284C4310633OMIM145615840606834
HP:0003829HP:0003831Age-dependent penetrance1KMT2B CL E G H9757617284Dystonia 28, childhood-onset617284C4310633OMIM138415840606834
HP:0003829HP:0003831Age-dependent penetrance1KRIT1 CL E G H889116860Cerebral cavernous malformation116860C2919945OMIM14511573604214
HP:0003829HP:0003831Age-dependent penetrance1KRIT1 CL E G H889116860Cerebral cavernous malformation116860C2919945OMIM13991573604214
HP:0003829HP:0003831Age-dependent penetrance1LGI1 CL E G H9211600512Epilepsy, lateral temporal lobe, autosomal dominant600512C1838062OMIM13196572604619
HP:0003829HP:0003831Age-dependent penetrance1LGI1 CL E G H9211600512Epilepsy, lateral temporal lobe, autosomal dominant600512C1838062OMIM12726572604619
HP:0003829HP:0003831Age-dependent penetrance1LRP5 CL E G H4041617875POLYCYSTIC LIVER DISEASE 4 WITH OR WITHOUT KIDNEY CYSTS617875CN818987OMIM111276697603506
HP:0003829HP:0003831Age-dependent penetrance1LRP5 CL E G H4041617875POLYCYSTIC LIVER DISEASE 4 WITH OR WITHOUT KIDNEY CYSTS617875CN818987OMIM18616697603506
HP:0003829HP:0003831Age-dependent penetrance1LRSAM1 CL E G H90678614436Charcot-Marie-Tooth disease type 2P614436C3280797OMIM162725135610933
HP:0003829HP:0003831Age-dependent penetrance1LRSAM1 CL E G H90678614436Charcot-Marie-Tooth disease type 2P614436C3280797OMIM156325135610933
HP:0003829HP:0003831Age-dependent penetrance1MED13L CL E G H23389608808Transposition of the great arteries, dextro-looped 1608808C1837341OMIM159622962608771
HP:0003829HP:0003831Age-dependent penetrance1MED13L CL E G H23389608808Transposition of the great arteries, dextro-looped 1608808C1837341OMIM156622962608771
HP:0003829HP:0003831Age-dependent penetrance1MET CL E G H4233605074Renal cell carcinoma, papillary, 1605074C0007134OMIM119737029164860
HP:0003829HP:0003831Age-dependent penetrance1MET CL E G H4233605074Renal cell carcinoma, papillary, 1605074C0007134OMIM116507029164860
HP:0003829HP:0003831Age-dependent penetrance1MFN2 CL E G H9927609260Charcot-Marie-Tooth disease, type 2A2A609260C1836485OMIM194416877608507
HP:0003829HP:0003831Age-dependent penetrance1MFN2 CL E G H9927609260Charcot-Marie-Tooth disease, type 2A2A609260C1836485OMIM182416877608507
HP:0003829HP:0003831Age-dependent penetrance1MICAL1 CL E G H64780600512Epilepsy, lateral temporal lobe, autosomal dominant600512C1838062OMIM114020619607129
HP:0003829HP:0003831Age-dependent penetrance1MICAL1 CL E G H64780600512Epilepsy, lateral temporal lobe, autosomal dominant600512C1838062OMIM15320619607129
HP:0003829HP:0003831Age-dependent penetrance1MN1 CL E G H4330607174Meningioma, familial607174C1333989OMIM1787180156100
HP:0003829HP:0003831Age-dependent penetrance1MN1 CL E G H4330607174Meningioma, familial607174C1333989OMIM1767180156100
HP:0003829HP:0003831Age-dependent penetrance1MNX1 CL E G H3110176450Currarino triad176450C1531773OMIM11814979142994
HP:0003829HP:0003831Age-dependent penetrance1MNX1 CL E G H3110176450Currarino triad176450C1531773OMIM11294979142994
HP:0003829HP:0003831Age-dependent penetrance1MSH6 CL E G H2956614350Hereditary nonpolyposis colorectal cancer type 5614350C1833477OMIM162197329600678
HP:0003829HP:0003831Age-dependent penetrance1MSH6 CL E G H2956614350Hereditary nonpolyposis colorectal cancer type 5614350C1833477OMIM157177329600678
HP:0003829HP:0003831Age-dependent penetrance1MT-ATP6 CL E G H4508535000Leber's optic atrophy535000C0917796OMIM17414516060
HP:0003829HP:0003831Age-dependent penetrance1MT-CO3 CL E G H4514535000Leber's optic atrophy535000C0917796OMIM17422516050
HP:0003829HP:0003831Age-dependent penetrance1MT-CYB CL E G H4519535000Leber's optic atrophy535000C0917796OMIM17427516020
HP:0003829HP:0003831Age-dependent penetrance1MT-ND1 CL E G H4535535000Leber's optic atrophy535000C0917796OMIM17455516000
HP:0003829HP:0003831Age-dependent penetrance1MT-ND2 CL E G H4536535000Leber's optic atrophy535000C0917796OMIM17456516001
HP:0003829HP:0003831Age-dependent penetrance1MT-ND4 CL E G H4538535000Leber's optic atrophy535000C0917796OMIM17459516003
HP:0003829HP:0003831Age-dependent penetrance1MT-ND4L CL E G H4539535000Leber's optic atrophy535000C0917796OMIM17460516004
HP:0003829HP:0003831Age-dependent penetrance1MT-ND5 CL E G H4540535000Leber's optic atrophy535000C0917796OMIM17461516005
HP:0003829HP:0003831Age-dependent penetrance1MT-ND6 CL E G H4541535000Leber's optic atrophy535000C0917796OMIM17462516006
HP:0003829HP:0003831Age-dependent penetrance1NEXMIF CL E G H340533300912Mental retardation, X-linked 98300912C3806730OMIM173629433300524
HP:0003829HP:0003831Age-dependent penetrance1NEXMIF CL E G H340533300912Mental retardation, X-linked 98300912C3806730OMIM165029433300524
HP:0003829HP:0003831Age-dependent penetrance1NF2 CL E G H4771607174Meningioma, familial607174C1333989OMIM111677773607379
HP:0003829HP:0003831Age-dependent penetrance1NF2 CL E G H4771607174Meningioma, familial607174C1333989OMIM110167773607379
HP:0003829HP:0003831Age-dependent penetrance1NF2 CL E G H4771162091Schwannomatosis 1162091C4048809OMIM111677773607379
HP:0003829HP:0003831Age-dependent penetrance1NF2 CL E G H4771162091Schwannomatosis 1162091C4048809OMIM110167773607379
HP:0003829HP:0003831Age-dependent penetrance1NLRP12 CL E G H91662611762Familial cold autoinflammatory syndrome 2611762C2673198OMIM173322938609648
HP:0003829HP:0003831Age-dependent penetrance1NLRP12 CL E G H91662611762Familial cold autoinflammatory syndrome 2611762C2673198OMIM159722938609648
HP:0003829HP:0003831Age-dependent penetrance1NME1 CL E G H4830256700Neuroblastoma256700C0027819OMIM1147849156490
HP:0003829HP:0003831Age-dependent penetrance1NPRL2 CL E G H10641617116Epilepsy, familial focal, with variable foci 2617116C4310709OMIM14824969607072
HP:0003829HP:0003831Age-dependent penetrance1NPRL2 CL E G H10641617116Epilepsy, familial focal, with variable foci 2617116C4310709OMIM14524969607072
HP:0003829HP:0003831Age-dependent penetrance1NPRL3 CL E G H8131617118Epilepsy, familial focal, with variable foci 3617118C4310708OMIM168114124600928
HP:0003829HP:0003831Age-dependent penetrance1NPRL3 CL E G H8131617118Epilepsy, familial focal, with variable foci 3617118C4310708OMIM157114124600928
HP:0003829HP:0003831Age-dependent penetrance1NR5A1 CL E G H251661748046,XX sex reversal 4617480C4479552OMIM11777983184757
HP:0003829HP:0003831Age-dependent penetrance1NR5A1 CL E G H251661748046,XX sex reversal 4617480C4479552OMIM11617983184757
HP:0003829HP:0003831Age-dependent penetrance1NRIP1 CL E G H8204618270618270618270OMIM1938001602490
HP:0003829HP:0003831Age-dependent penetrance1NRIP1 CL E G H8204618270618270618270OMIM1888001602490
HP:0003829HP:0003831Age-dependent penetrance1OPA1 CL E G H4976165500Dominant hereditary optic atrophy165500C0338508OMIM17398140605290
HP:0003829HP:0003831Age-dependent penetrance1OPA1 CL E G H4976165500Dominant hereditary optic atrophy165500C0338508OMIM15988140605290
HP:0003829HP:0003831Age-dependent penetrance1PARN CL E G H5073616371Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4616371C4225347OMIM13568609604212
HP:0003829HP:0003831Age-dependent penetrance1PARN CL E G H5073616371Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4616371C4225347OMIM12668609604212
HP:0003829HP:0003831Age-dependent penetrance1PAX2 CL E G H5076616002Focal segmental glomerulosclerosis 7616002C4014925OMIM12508616167409
HP:0003829HP:0003831Age-dependent penetrance1PAX2 CL E G H5076616002Focal segmental glomerulosclerosis 7616002C4014925OMIM11948616167409
HP:0003829HP:0003831Age-dependent penetrance1PDGFB CL E G H5155607174Meningioma, familial607174C1333989OMIM1958800190040
HP:0003829HP:0003831Age-dependent penetrance1PDGFB CL E G H5155607174Meningioma, familial607174C1333989OMIM1938800190040
HP:0003829HP:0003831Age-dependent penetrance1PITX1 CL E G H5307119800Talipes equinovarus119800C0009081OMIM1529004602149
HP:0003829HP:0003831Age-dependent penetrance1PITX1 CL E G H5307119800Talipes equinovarus119800C0009081OMIM1499004602149
HP:0003829HP:0003831Age-dependent penetrance1PKD2 CL E G H5311613095Polycystic kidney disease 2613095C2751306OMIM15929009173910
HP:0003829HP:0003831Age-dependent penetrance1PKD2 CL E G H5311613095Polycystic kidney disease 2613095C2751306OMIM15179009173910
HP:0003829HP:0003831Age-dependent penetrance1PRCC CL E G H5546605074Renal cell carcinoma, papillary, 1605074C0007134OMIM1169343179755
HP:0003829HP:0003831Age-dependent penetrance1PRCC CL E G H5546605074Renal cell carcinoma, papillary, 1605074C0007134OMIM1129343179755
HP:0003829HP:0003831Age-dependent penetrance1PRKCG CL E G H5582605361Spinocerebellar ataxia 14605361C1854369OMIM12719402176980
HP:0003829HP:0003831Age-dependent penetrance1PRKCG CL E G H5582605361Spinocerebellar ataxia 14605361C1854369OMIM12619402176980
HP:0003829HP:0003831Age-dependent penetrance1PROK2 CL E G H60675610628Hypogonadotropic hypogonadism 4 with or without anosmia610628C1857720OMIM15418455607002
HP:0003829HP:0003831Age-dependent penetrance1PROK2 CL E G H60675610628Hypogonadotropic hypogonadism 4 with or without anosmia610628C1857720OMIM15018455607002
HP:0003829HP:0003831Age-dependent penetrance1PROKR2 CL E G H128674244200Kallmann syndrome 3244200C2930927OMIM112715836607123
HP:0003829HP:0003831Age-dependent penetrance1PROKR2 CL E G H128674244200Kallmann syndrome 3244200C2930927OMIM112015836607123
HP:0003829HP:0003831Age-dependent penetrance1PRPF31 CL E G H26121600138Retinitis pigmentosa 11600138C1838601OMIM141315446606419
HP:0003829HP:0003831Age-dependent penetrance1PRPF31 CL E G H26121600138Retinitis pigmentosa 11600138C1838601OMIM129315446606419
HP:0003829HP:0003831Age-dependent penetrance1PRPF8 CL E G H10594600059Retinitis pigmentosa 13600059C1838702OMIM171317340607300
HP:0003829HP:0003831Age-dependent penetrance1PRPF8 CL E G H10594600059Retinitis pigmentosa 13600059C1838702OMIM160017340607300
HP:0003829HP:0003831Age-dependent penetrance1PRRT2 CL E G H112476128200Dystonia 10128200C1868682OMIM165930500614386
HP:0003829HP:0003831Age-dependent penetrance1PRRT2 CL E G H112476128200Dystonia 10128200C1868682OMIM159730500614386
HP:0003829HP:0003831Age-dependent penetrance1PRRT2 CL E G H112476605751Seizures, benign familial infantile, 2605751C1853995OMIM165930500614386
HP:0003829HP:0003831Age-dependent penetrance1PRRT2 CL E G H112476605751Seizures, benign familial infantile, 2605751C1853995OMIM159730500614386
HP:0003829HP:0003831Age-dependent penetrance1PTCH1 CL E G H5727610828Holoprosencephaly 7610828C1835820OMIM129889585601309
HP:0003829HP:0003831Age-dependent penetrance1PTCH1 CL E G H5727610828Holoprosencephaly 7610828C1835820OMIM126289585601309
HP:0003829HP:0003831Age-dependent penetrance1PTCH2 CL E G H8643155255Medulloblastoma155255C0025149OMIM15419586603673
HP:0003829HP:0003831Age-dependent penetrance1PTCH2 CL E G H8643155255Medulloblastoma155255C0025149OMIM14269586603673
HP:0003829HP:0003831Age-dependent penetrance1PUM1 CL E G H9698617931SPINOCEREBELLAR ATAXIA 47617931CN244564OMIM18814957607204
HP:0003829HP:0003831Age-dependent penetrance1PUM1 CL E G H9698617931SPINOCEREBELLAR ATAXIA 47617931CN244564OMIM18614957607204
HP:0003829HP:0003831Age-dependent penetrance1RELN CL E G H5649600512Epilepsy, lateral temporal lobe, autosomal dominant600512C1838062OMIM121239957600514
HP:0003829HP:0003831Age-dependent penetrance1RELN CL E G H5649600512Epilepsy, lateral temporal lobe, autosomal dominant600512C1838062OMIM118109957600514
HP:0003829HP:0003831Age-dependent penetrance1RPS29 CL E G H6235615909Diamond-Blackfan anemia 13615909C4014641OMIM12710419603633
HP:0003829HP:0003831Age-dependent penetrance1RPS29 CL E G H6235615909Diamond-Blackfan anemia 13615909C4014641OMIM12110419603633
HP:0003829HP:0003831Age-dependent penetrance1RTEL1 CL E G H51750616373Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3616373C4225346OMIM1160515888608833
HP:0003829HP:0003831Age-dependent penetrance1RTEL1 CL E G H51750616373Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3616373C4225346OMIM1133915888608833
HP:0003829HP:0003831Age-dependent penetrance1SCN1B CL E G H6324604233Generalized epilepsy with febrile seizures plus, type 1604233C1858672OMIM140210586600235
HP:0003829HP:0003831Age-dependent penetrance1SCN1B CL E G H6324604233Generalized epilepsy with febrile seizures plus, type 1604233C1858672OMIM135310586600235
HP:0003829HP:0003831Age-dependent penetrance1SCN4A CL E G H6329170400Hypokalemic periodic paralysis 1170400C3714580OMIM1124110591603967
HP:0003829HP:0003831Age-dependent penetrance1SCN4A CL E G H6329170400Hypokalemic periodic paralysis 1170400C3714580OMIM1108110591603967
HP:0003829HP:0003831Age-dependent penetrance1SDHB CL E G H6390115310Paragangliomas 4115310C1861848OMIM192610681185470
HP:0003829HP:0003831Age-dependent penetrance1SDHB CL E G H6390115310Paragangliomas 4115310C1861848OMIM182410681185470
HP:0003829HP:0003831Age-dependent penetrance1SFTPC CL E G H6440610913Surfactant metabolism dysfunction, pulmonary, 2610913C1970470OMIM115810802178620
HP:0003829HP:0003831Age-dependent penetrance1SFTPC CL E G H6440610913Surfactant metabolism dysfunction, pulmonary, 2610913C1970470OMIM115210802178620
HP:0003829HP:0003831Age-dependent penetrance1SGCE CL E G H8910159900Myoclonic dystonia159900C1834570OMIM140610808604149
HP:0003829HP:0003831Age-dependent penetrance1SGCE CL E G H8910159900Myoclonic dystonia159900C1834570OMIM133910808604149
HP:0003829HP:0003831Age-dependent penetrance1SHH CL E G H6469142945Holoprosencephaly 3142945C1840529OMIM128310848600725
HP:0003829HP:0003831Age-dependent penetrance1SHH CL E G H6469142945Holoprosencephaly 3142945C1840529OMIM124510848600725
HP:0003829HP:0003831Age-dependent penetrance1SHH CL E G H6469611638Microphthalmia, isolated, with coloboma 5611638C1968843OMIM128310848600725
HP:0003829HP:0003831Age-dependent penetrance1SHH CL E G H6469611638Microphthalmia, isolated, with coloboma 5611638C1968843OMIM124510848600725
HP:0003829HP:0003831Age-dependent penetrance1SIX1 CL E G H6495113650Melnick-Fraser syndrome113650C0265234OMIM114310887601205
HP:0003829HP:0003831Age-dependent penetrance1SIX1 CL E G H6495113650Melnick-Fraser syndrome113650C0265234OMIM113610887601205
HP:0003829HP:0003831Age-dependent penetrance1SIX3 CL E G H6496157170Holoprosencephaly 2157170C1834877OMIM111810889603714
HP:0003829HP:0003831Age-dependent penetrance1SIX3 CL E G H6496157170Holoprosencephaly 2157170C1834877OMIM110410889603714
HP:0003829HP:0003831Age-dependent penetrance1SLC2A1 CL E G H6513612126GLUT1 deficiency syndrome 2612126C1842534OMIM175311005138140
HP:0003829HP:0003831Age-dependent penetrance1SLC2A1 CL E G H6513612126GLUT1 deficiency syndrome 2612126C1842534OMIM167211005138140
HP:0003829HP:0003831Age-dependent penetrance1SMAD9 CL E G H4093615342Primary pulmonary hypertension 2615342C3888002OMIM11426774603295
HP:0003829HP:0003831Age-dependent penetrance1SMAD9 CL E G H4093615342Primary pulmonary hypertension 2615342C3888002OMIM11336774603295
HP:0003829HP:0003831Age-dependent penetrance1STAT1 CL E G H6772614892Immunodeficiency 31a614892C4013950OMIM136811362600555
HP:0003829HP:0003831Age-dependent penetrance1STAT1 CL E G H6772614892Immunodeficiency 31a614892C4013950OMIM131411362600555
HP:0003829HP:0003831Age-dependent penetrance1SUFU CL E G H51684155255Medulloblastoma155255C0025149OMIM181516466607035
HP:0003829HP:0003831Age-dependent penetrance1SUFU CL E G H51684155255Medulloblastoma155255C0025149OMIM170316466607035
HP:0003829HP:0003831Age-dependent penetrance1TRPV4 CL E G H59341606071Charcot-Marie-Tooth disease type 2C606071C2079540OMIM178118083605427
HP:0003829HP:0003831Age-dependent penetrance1TRPV4 CL E G H59341606071Charcot-Marie-Tooth disease type 2C606071C2079540OMIM170318083605427
HP:0003829HP:0003831Age-dependent penetrance1TRPV4 CL E G H59341600175Distal spinal muscular atrophy, congenital nonprogressive600175C1838492OMIM178118083605427
HP:0003829HP:0003831Age-dependent penetrance1TRPV4 CL E G H59341600175Distal spinal muscular atrophy, congenital nonprogressive600175C1838492OMIM170318083605427
HP:0003829HP:0003831Age-dependent penetrance1TRPV4 CL E G H59341181405Scapuloperoneal spinal muscular atrophy181405C0751335OMIM178118083605427
HP:0003829HP:0003831Age-dependent penetrance1TRPV4 CL E G H59341181405Scapuloperoneal spinal muscular atrophy181405C0751335OMIM170318083605427
HP:0003829HP:0003831Age-dependent penetrance1TTN CL E G H7273600334Distal myopathy Markesbery-Griggs type600334C1838244OMIM11902812403188840
HP:0003829HP:0003831Age-dependent penetrance1TTN CL E G H7273600334Distal myopathy Markesbery-Griggs type600334C1838244OMIM11798412403188840
HP:0003829HP:0003831Age-dependent penetrance1VMA21 CL E G H203547310440Myopathy, X-linked, with excessive autophagy310440C1839615OMIM123022082300913
HP:0003829HP:0003831Age-dependent penetrance1VMA21 CL E G H203547310440Myopathy, X-linked, with excessive autophagy310440C1839615OMIM122322082300913
HP:0003829HP:0003831Age-dependent penetrance1VWF CL E G H7450193400von Willebrand disease type 1193400C1264039OMIM1114012726613160
HP:0003829HP:0003831Age-dependent penetrance1VWF CL E G H7450193400von Willebrand disease type 1193400C1264039OMIM1110112726613160
HP:0003829HP:0003831Age-dependent penetrance1WNT10B CL E G H7480225300Split-hand/foot malformation 6225300C2749665OMIM15012775601906
HP:0003829HP:0003831Age-dependent penetrance1WNT10B CL E G H7480225300Split-hand/foot malformation 6225300C2749665OMIM14512775601906
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0003829HP:0003829Incomplete penetrance0CHRNA7 CL E G H113961200115q13.3 microdeletion syndrome612001C2677613OMIM03461960118511
HP:0003829HP:0003829Incomplete penetrance0CHRNA7 CL E G H113961200115q13.3 microdeletion syndrome612001C2677613OMIM03401960118511
HP:0003829HP:0003829Incomplete penetrance0KLF13 CL E G H5162161200115q13.3 microdeletion syndrome612001C2677613OMIM022413672605328
HP:0003829HP:0003829Incomplete penetrance0KLF13 CL E G H5162161200115q13.3 microdeletion syndrome612001C2677613OMIM021813672605328
HP:0003829HP:0003829Incomplete penetrance0RAD51 CL E G H5888614508Mirror movements 2614508C3281089OMIM0819817179617
HP:0003829HP:0003829Incomplete penetrance0RAD51 CL E G H5888614508Mirror movements 2614508C3281089OMIM0729817179617
HP:0003829HP:0003829Incomplete penetrance0THAP1 CL E G H55145602629Dystonia 6, torsion602629C1414216OMIM017120856609520
HP:0003829HP:0003829Incomplete penetrance0THAP1 CL E G H55145602629Dystonia 6, torsion602629C1414216OMIM016520856609520
HP:0003829HP:0003829Incomplete penetrance0TOR1A CL E G H1861128100Dystonia 1128100C1851945OMIM01613098605204
HP:0003829HP:0003829Incomplete penetrance0TOR1A CL E G H1861128100Dystonia 1128100C1851945OMIM01563098605204
HP:0003829HP:0003831Age-dependent penetrance1CHRNA7 CL E G H113961200115q13.3 microdeletion syndrome612001C2677613OMIM03461960118511
HP:0003829HP:0003831Age-dependent penetrance1CHRNA7 CL E G H113961200115q13.3 microdeletion syndrome612001C2677613OMIM03401960118511
HP:0003829HP:0003831Age-dependent penetrance1KLF13 CL E G H5162161200115q13.3 microdeletion syndrome612001C2677613OMIM022413672605328
HP:0003829HP:0003831Age-dependent penetrance1KLF13 CL E G H5162161200115q13.3 microdeletion syndrome612001C2677613OMIM021813672605328
HP:0003829HP:0003831Age-dependent penetrance1RAD51 CL E G H5888614508Mirror movements 2614508C3281089OMIM0819817179617
HP:0003829HP:0003831Age-dependent penetrance1RAD51 CL E G H5888614508Mirror movements 2614508C3281089OMIM0729817179617
HP:0003829HP:0003831Age-dependent penetrance1THAP1 CL E G H55145602629Dystonia 6, torsion602629C1414216OMIM017120856609520
HP:0003829HP:0003831Age-dependent penetrance1THAP1 CL E G H55145602629Dystonia 6, torsion602629C1414216OMIM016520856609520
HP:0003829HP:0003831Age-dependent penetrance1TOR1A CL E G H1861128100Dystonia 1128100C1851945OMIM01613098605204
HP:0003829HP:0003831Age-dependent penetrance1TOR1A CL E G H1861128100Dystonia 1128100C1851945OMIM01563098605204


Genes (128) :ACTN4 ANO3 ANXA11 ATL1 ATP1A2 ATP1A3 ATP6 ATXN10 BMPR2 CACNA1A CACNA1S CACNB4 CAV1 CFC1 CHRNA2 CHRNA4 CHRNA7 CLCN2 COL4A2 COX3 CPOX CRELD1 CTLA4 CTNNB1 CYTB DCC DCHS1 DCX DEPDC5 DSTYK ELOVL4 EYA1 FGF23 FGFR1 FH FLCN FMR1 GATA5 GJA5 GJA8 GJB1 GJC2 GLI2 GREB1L GRIN2A GUCY2D HNRNPDL IFIH1 IKZF1 JAG1 KCNK3 KIF11 KLF13 KMT2B KRIT1 LGI1 LRP5 LRSAM1 MED13L MET MFN2 MICAL1 MN1 MNX1 MSH6 MT-ATP6 MT-CO3 MT-CYB MT-ND1 MT-ND2 MT-ND4 MT-ND4L MT-ND5 MT-ND6 ND1 ND2 ND4 ND4L ND5 ND6 NEXMIF NF2 NLRP12 NME1 NPRL2 NPRL3 NR5A1 NRIP1 OPA1 PARN PAX2 PDGFB PITX1 PKD2 PRCC PRKCG PROK2 PROKR2 PRPF31 PRPF8 PRRT2 PTCH1 PTCH2 PUM1 RAD51 RELN RPS29 RTEL1 SCN1B SCN4A SDHB SFTPC SGCE SHH SIX1 SIX3 SLC2A1 SMAD9 STAT1 SUFU TENM4 THAP1 TOR1A TRPV4 TTN VMA21 VWF WNT10B

Diseases (107) :603278 615034 617839 182600 602481 128235 535000 603516 178600 108500 170400 613855 615343 605376 610353 600513 612001 605635 614483 121300 606217 616100 155255 157600 300067 604364 610805 133190 602588 113650 193100 147950 150800 173600 300624 617912 612474 302800 613480 615849 610829 617805 245570 609115 615846 616873 118450 615344 152950 617284 116860 600512 617875 614436 608808 605074 609260 607174 176450 614350 300912 162091 611762 256700 617116 617118 617480 618270 165500 616371 616002 119800 613095 605361 610628 244200 600138 600059 128200 605751 610828 617931 614508 615909 616373 604233 115310 610913 159900 142945 611638 157170 612126 615342 614892 602629 128100 606071 600175 181405 600334 310440 193400 225300 607829 601777 616736
 

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