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: 2538
Gene Symbol: G6PC
G6PC 		glucose-6-phosphatase catalytic subunit 0.560 0.692 1.8E-05
CUI: C0000731
Disease: Abdomen distended
Abdomen distended 		phenotype 0.100 None 0 1
Entrez Id: 285175
Gene Symbol: UNC80
UNC80 		unc-80 homolog, NALCN channel complex subunit 0.626 0.462 5.2E-02
CUI: C0000731
Disease: Abdomen distended
Abdomen distended 		phenotype 0.100 None 0 1
Entrez Id: 4204
Gene Symbol: MECP2
MECP2 		methyl-CpG binding protein 2 0.414 0.846 0.89
CUI: C0000731
Disease: Abdomen distended
Abdomen distended 		phenotype 0.100 None 0 1
Entrez Id: 6514
Gene Symbol: SLC2A2
SLC2A2 		solute carrier family 2 member 2 0.572 0.692 3.4E-08
CUI: C0000731
Disease: Abdomen distended
Abdomen distended 		phenotype 0.100 None 0 1
Entrez Id: 7454
Gene Symbol: WAS
WAS 		WASP actin nucleation promoting factor 0.529 0.808 1.00
CUI: C0000731
Disease: Abdomen distended
Abdomen distended 		phenotype 0.100 None 0 1
Entrez Id: 9091
Gene Symbol: PIGQ
PIGQ 		phosphatidylinositol glycan anchor biosynthesis class Q 0.610 0.577 1.4E-06
CUI: C0000731
Disease: Abdomen distended
Abdomen distended 		phenotype 0.100 None 0 1