Source: HPO

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: 6513
Gene Symbol: SLC2A1
SLC2A1 		solute carrier family 2 member 1 0.388 0.808 0.99
CUI: C0677598
Disease: Stomatocytosis Result
Stomatocytosis Result 		phenotype 0.400 strong 1.000 0 0 2011 2012
Entrez Id: 6005
Gene Symbol: RHAG
RHAG 		Rh associated glycoprotein 0.716 0.346 1.0E-02
CUI: C0677598
Disease: Stomatocytosis Result
Stomatocytosis Result 		phenotype 0.400 strong 1.000 0 0 1998 2009
Entrez Id: 10058
Gene Symbol: ABCB6
ABCB6 		ATP binding cassette subfamily B member 6 (Langereis blood group) 0.431 0.885 8.6E-19
CUI: C0677598
Disease: Stomatocytosis Result
Stomatocytosis Result 		phenotype 0.100 None 0 0
Entrez Id: 6708
Gene Symbol: SPTA1
SPTA1 		spectrin alpha, erythrocytic 1 0.638 0.538 2.6E-18
CUI: C0677598
Disease: Stomatocytosis Result
Stomatocytosis Result 		phenotype 0.100 None 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: C0677598
Disease: Stomatocytosis Result
Stomatocytosis Result 		phenotype 0.100 None 0 0
Entrez Id: 64241
Gene Symbol: ABCG8
ABCG8 		ATP binding cassette subfamily G member 8 0.573 0.538 2.4E-20
CUI: C0677598
Disease: Stomatocytosis Result
Stomatocytosis Result 		phenotype 0.100 None 0 0
Entrez Id: 64240
Gene Symbol: ABCG5
ABCG5 		ATP binding cassette subfamily G member 5 0.592 0.577 3.1E-21
CUI: C0677598
Disease: Stomatocytosis Result
Stomatocytosis Result 		phenotype 0.100 None 0 0
Entrez Id: 2995
Gene Symbol: GYPC
GYPC 		glycophorin C (Gerbich blood group) 0.641 0.654 0.11
CUI: C0677598
Disease: Stomatocytosis Result
Stomatocytosis Result 		phenotype 0.100 None 0 0
Entrez Id: 2811
Gene Symbol: GP1BA
GP1BA 		glycoprotein Ib platelet subunit alpha 0.565 0.692 3.2E-03
CUI: C0677598
Disease: Stomatocytosis Result
Stomatocytosis Result 		phenotype 0.100 None 0 0
Entrez Id: 2077
Gene Symbol: ERF
ERF 		ETS2 repressor factor 0.572 0.654 0.99
CUI: C0677598
Disease: Stomatocytosis Result
Stomatocytosis Result 		phenotype 0.100 None 0 0
Entrez Id: 2035
Gene Symbol: EPB41
EPB41 		erythrocyte membrane protein band 4.1 0.691 0.500 3.6E-05
CUI: C0677598
Disease: Stomatocytosis Result
Stomatocytosis Result 		phenotype 0.100 None 0 0
Entrez Id: 6710
Gene Symbol: SPTB
SPTB 		spectrin beta, erythrocytic 0.650 0.462 1.00
CUI: C0677598
Disease: Stomatocytosis Result
Stomatocytosis Result 		phenotype 0.100 None 0 0