Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6546
Gene Symbol: SLC8A1
SLC8A1
0.300 Biomarker phenotype CTD_human Ncx (Enx, Hox11L.1) is required for neuronal cell death in enteric ganglia of mice. 17560225 2007
Entrez Id: 6546
Gene Symbol: SLC8A1
SLC8A1
0.300 Biomarker phenotype CTD_human Acetylcholine-related bowel dysmotility in homozygous mutant NCX/HOX11L.1-deficient (NCX-/-) mice-evidence that acetylcholine is implicated in causing intestinal neuronal dysplasia. 15185227 2004
Entrez Id: 1910
Gene Symbol: EDNRB
EDNRB
0.200 Biomarker phenotype RGD Null mutation of endothelin receptor type B gene in spotting lethal rats causes aganglionic megacolon and white coat color. 8570650 1996
Entrez Id: 5435
Gene Symbol: POLR2F
POLR2F
0.100 CausalMutation phenotype CLINVAR
Entrez Id: 9126
Gene Symbol: SMC3
SMC3
0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 79738
Gene Symbol: BBS10
BBS10
0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 1908
Gene Symbol: EDN3
EDN3
0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 5979
Gene Symbol: RET
RET
0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 5979
Gene Symbol: RET
RET
0.100 CausalMutation phenotype CLINVAR
Entrez Id: 6663
Gene Symbol: SOX10
SOX10
0.100 CausalMutation phenotype CLINVAR
Entrez Id: 3549
Gene Symbol: IHH
IHH
0.100 GeneticVariation phenotype CLINVAR