Source: HPO

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 27063
Gene Symbol: ANKRD1
ANKRD1 		ankyrin repeat domain 1 0.628 0.692 2.6E-10
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		group 0.130 None 1.000 0 0 2009 2016
Entrez Id: 27063
Gene Symbol: ANKRD1
ANKRD1 		ankyrin repeat domain 1 0.628 0.692 2.6E-10
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		disease 0.100 None 0 0
Entrez Id: 27063
Gene Symbol: ANKRD1
ANKRD1 		ankyrin repeat domain 1 0.628 0.692 2.6E-10
CUI: C0023787
Disease: Lipodystrophy
Lipodystrophy 		disease 0.100 None 0 0
Entrez Id: 27063
Gene Symbol: ANKRD1
ANKRD1 		ankyrin repeat domain 1 0.628 0.692 2.6E-10
CUI: C0026848
Disease: Myopathy
Myopathy 		group 0.100 None 0 0
Entrez Id: 27063
Gene Symbol: ANKRD1
ANKRD1 		ankyrin repeat domain 1 0.628 0.692 2.6E-10
CUI: C0241005
Disease: Creatine phosphokinase serum increased
Creatine phosphokinase serum increased 		phenotype 0.100 None 0 0
Entrez Id: 27063
Gene Symbol: ANKRD1
ANKRD1 		ankyrin repeat domain 1 0.628 0.692 2.6E-10
CUI: C0427515
Disease: Neutrophil abnormality
Neutrophil abnormality 		phenotype 0.100 None 0 0
Entrez Id: 27063
Gene Symbol: ANKRD1
ANKRD1 		ankyrin repeat domain 1 0.628 0.692 2.6E-10
CUI: C0476403
Disease: Electromyogram abnormal
Electromyogram abnormal 		phenotype 0.100 None 0 0
Entrez Id: 27063
Gene Symbol: ANKRD1
ANKRD1 		ankyrin repeat domain 1 0.628 0.692 2.6E-10
CUI: C1280433
Disease: Lipoatrophy
Lipoatrophy 		disease 0.100 None 0 0
Entrez Id: 27063
Gene Symbol: ANKRD1
ANKRD1 		ankyrin repeat domain 1 0.628 0.692 2.6E-10
CUI: C4551675
Disease: Keratoderma, Palmoplantar
Keratoderma, Palmoplantar 		disease 0.100 None 0 0