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: 1180
Gene Symbol: CLCN1
CLCN1 		chloride voltage-gated channel 1 0.641 0.423 3.3E-20
CUI: C0037763
Disease: Spasm
Spasm 		phenotype 0.100 None 0 1
Entrez Id: 1591
Gene Symbol: CYP24A1
CYP24A1 		cytochrome P450 family 24 subfamily A member 1 0.518 0.692 3.2E-23
CUI: C0037763
Disease: Spasm
Spasm 		phenotype 0.100 None 0 1
Entrez Id: 1756
Gene Symbol: DMD
DMD 		dystrophin 0.423 0.923 1.00
CUI: C0037763
Disease: Spasm
Spasm 		phenotype 0.100 None 0 1
Entrez Id: 4358
Gene Symbol: MPV17
MPV17 		mitochondrial inner membrane protein MPV17 0.595 0.577 9.7E-11
CUI: C0037763
Disease: Spasm
Spasm 		phenotype 0.100 None 0 2
Entrez Id: 6575
Gene Symbol: SLC20A2
SLC20A2 		solute carrier family 20 member 2 0.638 0.577 0.97
CUI: C0037763
Disease: Spasm
Spasm 		phenotype 0.100 None 0 1
Entrez Id: 6821
Gene Symbol: SUOX
SUOX 		sulfite oxidase 0.638 0.615 9.4E-07
CUI: C0037763
Disease: Spasm
Spasm 		phenotype 0.100 None 0 1
Entrez Id: 79912
Gene Symbol: PYROXD1
PYROXD1 		pyridine nucleotide-disulphide oxidoreductase domain 1 0.769 0.269 6.3E-09
CUI: C0037763
Disease: Spasm
Spasm 		phenotype 0.100 None 0 1