| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
A | 0.700 | CausalMutation | CLINVAR | Loss-of-Function Variants in MYLK Cause Recessive Megacystis Microcolon Intestinal Hypoperistalsis Syndrome. | 28602422 | 2017 |
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|
T | 0.700 | CausalMutation | CLINVAR | Variants of the ACTG2 gene correlate with degree of severity and presence of megacystis in chronic intestinal pseudo-obstruction. | 26813947 | 2016 |
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|
A | 0.700 | CausalMutation | CLINVAR | Variants of the ACTG2 gene correlate with degree of severity and presence of megacystis in chronic intestinal pseudo-obstruction. | 26813947 | 2016 |
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|
T | 0.700 | CausalMutation | 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 |
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|
A | 0.700 | CausalMutation | 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 |
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|
T | 0.700 | CausalMutation | CLINVAR | De novo ACTG2 mutations cause congenital distended bladder, microcolon, and intestinal hypoperistalsis. | 24337657 | 2014 |
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|
T | 0.700 | CausalMutation | CLINVAR | Heterozygous de novo and inherited mutations in the smooth muscle actin (ACTG2) gene underlie megacystis-microcolon-intestinal hypoperistalsis syndrome. | 24676022 | 2014 |
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|
A | 0.700 | CausalMutation | CLINVAR | De novo ACTG2 mutations cause congenital distended bladder, microcolon, and intestinal hypoperistalsis. | 24337657 | 2014 |
|||
|
A | 0.700 | CausalMutation | CLINVAR | Heterozygous de novo and inherited mutations in the smooth muscle actin (ACTG2) gene underlie megacystis-microcolon-intestinal hypoperistalsis syndrome. | 24676022 | 2014 |