Source: CLINGEN

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: 4649
Gene Symbol: MYO9A
MYO9A
myosin IXA 0.647 0.500 0.49
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis
disease 0.600 limited 1.000 4 0 1998 2016
Entrez Id: 23355
Gene Symbol: VPS8
VPS8
VPS8 subunit of CORVET complex 1.000 0.077 5.1E-08
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis
disease 0.500 limited 1.000 3 0 1996 2016