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: 6521
Gene Symbol: SLC4A1
SLC4A1
solute carrier family 4 member 1 (Diego blood group) 0.522 0.731 0.85
CUI: C0001126
Disease: Renal tubular acidosis
Renal tubular acidosis
phenotype 0.690 None 1.000 1 0 1996 2013
Entrez Id: 1508
Gene Symbol: CTSB
CTSB
cathepsin B 0.457 0.846 5.9E-11
CUI: C0001126
Disease: Renal tubular acidosis
Renal tubular acidosis
phenotype 0.200 None 1.000 1 0 1994 1994
Entrez Id: 1584
Gene Symbol: CYP11B1
CYP11B1
cytochrome P450 family 11 subfamily B member 1 0.563 0.615 8.2E-07
CUI: C0001126
Disease: Renal tubular acidosis
Renal tubular acidosis
phenotype 0.200 None 1.000 1 0 2006 2006