Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4638
Gene Symbol: MYLK
MYLK 		0.100 CausalMutation phenotype CLINVAR Loss-of-Function Variants in MYLK Cause Recessive Megacystis Microcolon Intestinal Hypoperistalsis Syndrome. 28602422 2017
Entrez Id: 72
Gene Symbol: ACTG2
ACTG2 		0.100 CausalMutation phenotype CLINVAR Variants of the ACTG2 gene correlate with degree of severity and presence of megacystis in chronic intestinal pseudo-obstruction. 26813947 2016
Entrez Id: 72
Gene Symbol: ACTG2
ACTG2 		0.100 CausalMutation phenotype CLINVAR New Insights into the Genetics of Fetal Megacystis: ACTG2 Mutations, Encoding γ-2 Smooth Muscle Actin in Megacystis Microcolon Intestinal Hypoperistalsis Syndrome (Berdon Syndrome). 25998219 2015
Entrez Id: 72
Gene Symbol: ACTG2
ACTG2 		0.100 CausalMutation phenotype CLINVAR Heterozygous de novo and inherited mutations in the smooth muscle actin (ACTG2) gene underlie megacystis-microcolon-intestinal hypoperistalsis syndrome. 24676022 2014
Entrez Id: 72
Gene Symbol: ACTG2
ACTG2 		0.100 CausalMutation phenotype CLINVAR De novo ACTG2 mutations cause congenital distended bladder, microcolon, and intestinal hypoperistalsis. 24337657 2014
Entrez Id: 8626
Gene Symbol: TP63
TP63 		0.100 Biomarker phenotype HPO
Entrez Id: 359
Gene Symbol: AQP2
AQP2 		0.100 Biomarker phenotype HPO
Entrez Id: 25802
Gene Symbol: LMOD1
LMOD1 		0.100 Biomarker phenotype HPO
Entrez Id: 4629
Gene Symbol: MYH11
MYH11 		0.100 Biomarker phenotype HPO
Entrez Id: 554
Gene Symbol: AVPR2
AVPR2 		0.100 Biomarker phenotype HPO
Entrez Id: 4638
Gene Symbol: MYLK
MYLK 		0.100 Biomarker phenotype HPO
Entrez Id: 7080
Gene Symbol: NKX2-1
NKX2-1 		0.100 Biomarker phenotype HPO
Entrez Id: 72
Gene Symbol: ACTG2
ACTG2 		0.100 Biomarker phenotype HPO