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: 6521
Gene Symbol: SLC4A1
SLC4A1 		solute carrier family 4 member 1 (Diego blood group) 0.522 0.731 0.85
CUI: C2675212
Disease: Spherocytosis, Type 4
Spherocytosis, Type 4 		disease 0.900 None 1.000 2 19 1991 2005
Entrez Id: 6521
Gene Symbol: SLC4A1
SLC4A1 		solute carrier family 4 member 1 (Diego blood group) 0.522 0.731 0.85
CUI: C1704380
Disease: Distal Renal Tubular Acidosis
Distal Renal Tubular Acidosis 		disease 0.800 None 0.964 0 3 1997 2019
Entrez Id: 6521
Gene Symbol: SLC4A1
SLC4A1 		solute carrier family 4 member 1 (Diego blood group) 0.522 0.731 0.85
CUI: C1862322
Disease: Ovalocytosis, Malaysian-Melanesian-Filipino Type
Ovalocytosis, Malaysian-Melanesian-Filipino Type 		disease 0.800 strong 0.955 0 2 1991 2019
Entrez Id: 6521
Gene Symbol: SLC4A1
SLC4A1 		solute carrier family 4 member 1 (Diego blood group) 0.522 0.731 0.85
CUI: C1861453
Disease: Pseudohyperkalemia Cardiff
Pseudohyperkalemia Cardiff 		disease 0.750 strong 1.000 0 5 1991 2019
Entrez Id: 6521
Gene Symbol: SLC4A1
SLC4A1 		solute carrier family 4 member 1 (Diego blood group) 0.522 0.731 0.85
CUI: C1969038
Disease: RENAL TUBULAR ACIDOSIS, DISTAL, WITH HEMOLYTIC ANEMIA (disorder)
RENAL TUBULAR ACIDOSIS, DISTAL, WITH HEMOLYTIC ANEMIA (disorder) 		disease 0.700 None 1.000 0 5 1998 2004
Entrez Id: 6521
Gene Symbol: SLC4A1
SLC4A1 		solute carrier family 4 member 1 (Diego blood group) 0.522 0.731 0.85
CUI: C1862191
Disease: BLOOD GROUP--WALDNER TYPE
BLOOD GROUP--WALDNER TYPE 		phenotype 0.400 moderate 0 2
Entrez Id: 6521
Gene Symbol: SLC4A1
SLC4A1 		solute carrier family 4 member 1 (Diego blood group) 0.522 0.731 0.85
CUI: C1862190
Disease: BLOOD GROUP--WRIGHT ANTIGEN
BLOOD GROUP--WRIGHT ANTIGEN 		phenotype 0.400 moderate 0 2
Entrez Id: 6521
Gene Symbol: SLC4A1
SLC4A1 		solute carrier family 4 member 1 (Diego blood group) 0.522 0.731 0.85
CUI: C1970028
Disease: MALARIA, SUSCEPTIBILITY TO (finding)
MALARIA, SUSCEPTIBILITY TO (finding) 		disease 0.400 moderate 0 1
Entrez Id: 6521
Gene Symbol: SLC4A1
SLC4A1 		solute carrier family 4 member 1 (Diego blood group) 0.522 0.731 0.85
CUI: C1832168
Disease: BLOOD GROUP--FROESE
BLOOD GROUP--FROESE 		phenotype 0.400 moderate 0 2
Entrez Id: 6521
Gene Symbol: SLC4A1
SLC4A1 		solute carrier family 4 member 1 (Diego blood group) 0.522 0.731 0.85
CUI: C1969039
Disease: Renal Tubular Acidosis, Distal, With Normal Red Cell Morphology
Renal Tubular Acidosis, Distal, With Normal Red Cell Morphology 		disease 0.100 None 0 1
Entrez Id: 6521
Gene Symbol: SLC4A1
SLC4A1 		solute carrier family 4 member 1 (Diego blood group) 0.522 0.731 0.85
CUI: C4015898
Disease: RENAL TUBULAR ACIDOSIS, AUTOSOMAL DOMINANT
RENAL TUBULAR ACIDOSIS, AUTOSOMAL DOMINANT 		phenotype 0.100 None 0 1
Entrez Id: 6521
Gene Symbol: SLC4A1
SLC4A1 		solute carrier family 4 member 1 (Diego blood group) 0.522 0.731 0.85
CUI: C4015903
Disease: SWANN BLOOD GROUP ANTIGEN PHENOTYPE
SWANN BLOOD GROUP ANTIGEN PHENOTYPE 		phenotype 0.100 None 0 2
Entrez Id: 6521
Gene Symbol: SLC4A1
SLC4A1 		solute carrier family 4 member 1 (Diego blood group) 0.522 0.731 0.85
CUI: C4015904
Disease: ACANTHOCYTOSIS DUE TO BAND 3 HT
ACANTHOCYTOSIS DUE TO BAND 3 HT 		phenotype 0.100 None 0 1