Source: CLINVAR

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: 762
Gene Symbol: CA4
CA4
carbonic anhydrase 4 0.674 0.577 7.1E-06
CUI: C1833245
Disease: Retinitis Pigmentosa 17
Retinitis Pigmentosa 17
disease 0.740 None 1.000 0 3 2000 2010
Entrez Id: 762
Gene Symbol: CA4
CA4
carbonic anhydrase 4 0.674 0.577 7.1E-06
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
disease 0.470 moderate 1.000 2 1 1997 2010