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: 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 3 0 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: C1862322
Disease: Ovalocytosis, Malaysian-Melanesian-Filipino Type
Ovalocytosis, Malaysian-Melanesian-Filipino Type 		disease 0.800 strong 0.955 3 0 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: C1704380
Disease: Distal Renal Tubular Acidosis
Distal Renal Tubular Acidosis 		disease 0.800 None 0.964 1 0 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: C1861453
Disease: Pseudohyperkalemia Cardiff
Pseudohyperkalemia Cardiff 		disease 0.750 strong 1.000 3 0 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 1 0 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: C0013902
Disease: Elliptocytosis, Hereditary
Elliptocytosis, Hereditary 		disease 0.620 None 1.000 1 0 1992 2005
Entrez Id: 6521
Gene Symbol: SLC4A1
SLC4A1 		solute carrier family 4 member 1 (Diego blood group) 0.522 0.731 0.85
CUI: C0427480
Disease: Elliptocytosis found
Elliptocytosis found 		phenotype 0.400 None 1.000 1 0 1998 1998
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 0
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 0
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 0
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 0
Entrez Id: 6521
Gene Symbol: SLC4A1
SLC4A1 		solute carrier family 4 member 1 (Diego blood group) 0.522 0.731 0.85
CUI: C0041349
Disease: Nephritis, Tubulointerstitial
Nephritis, Tubulointerstitial 		disease 0.310 limited < 0.001 0 0 2018 2018
Entrez Id: 6521
Gene Symbol: SLC4A1
SLC4A1 		solute carrier family 4 member 1 (Diego blood group) 0.522 0.731 0.85
CUI: C0027707
Disease: Nephritis, Interstitial
Nephritis, Interstitial 		disease 0.310 limited < 0.001 0 0 2018 2018