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: 190
Gene Symbol: NR0B1
NR0B1 		nuclear receptor subfamily 0 group B member 1 0.494 0.808 0.97
CUI: C0342482
Disease: X-linked Adrenal Hypoplasia
X-linked Adrenal Hypoplasia 		disease 1.000 strong 1.000 0 58 1994 2019
Entrez Id: 190
Gene Symbol: NR0B1
NR0B1 		nuclear receptor subfamily 0 group B member 1 0.494 0.808 0.97
CUI: C1848296
Disease: DOSAGE-SENSITIVE SEX REVERSAL
DOSAGE-SENSITIVE SEX REVERSAL 		disease 0.700 None 0.972 0 6 1997 2019