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 3 0 1996 2013
Entrez Id: 8671
Gene Symbol: SLC4A4
SLC4A4
solute carrier family 4 member 4 0.644 0.692 1.00
CUI: C0001126
Disease: Renal tubular acidosis
Renal tubular acidosis
phenotype 0.540 None 1.000 1 0 2000 2011
Entrez Id: 50617
Gene Symbol: ATP6V0A4
ATP6V0A4
ATPase H+ transporting V0 subunit a4 0.722 0.385 2.2E-20
CUI: C0001126
Disease: Renal tubular acidosis
Renal tubular acidosis
phenotype 0.210 None 1.000 1 0 2012 2018