Source: GENOMICS_ENGLAND

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: 1717
Gene Symbol: DHCR7
DHCR7
7-dehydrocholesterol reductase 0.500 0.846 3.9E-13
CUI: C0036875
Disease: Disorders of Sex Development
Disorders of Sex Development
group 0.300 None 1.000 1 0 2016 2016
Entrez Id: 4659
Gene Symbol: PPP1R12A
PPP1R12A
protein phosphatase 1 regulatory subunit 12A 0.626 0.615 1.00
CUI: C0036875
Disease: Disorders of Sex Development
Disorders of Sex Development
group 0.300 None 1.000 1 0 2020 2020