| Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.300 | Biomarker | disease | RGD | Genetic background strongly modifies the severity of symptoms of Hirschsprung disease, but not hearing loss in rats carrying Ednrb(sl) mutations. | 21915282 | 2011 | ||||
|
0.300 | GeneticVariation | disease | CLINVAR | |||||||
|
0.070 | Biomarker | disease | BEFREE | Humans with mutations in the RET locus have Hirschsprung's disease (HSCR), and mice lacking RET exhibit total intestinal aganglionosis. | 23114404 | 2013 | ||||
|
0.070 | GeneticVariation | disease | BEFREE | In a 3-generation family, variations in RET exons 6, 13, and 18 (928) affected 3 male children with increasing penetration to recur as total intestinal aganglionosis in a grandchild. | 18280283 | 2008 | ||||
|
0.070 | AlteredExpression | disease | BEFREE | The Ret receptor tyrosine kinase is expressed throughout enteric neurogenesis and is required for normal ENS development; humans with mutations in the RET locus have Hirschsprung disease (HSCR, an absence of ganglia in the colon), and mice lacking Ret have total intestinal aganglionosis. | 16632597 | 2006 | ||||
|
0.070 | GeneticVariation | disease | BEFREE | Mutation analysis of the RET gene in total intestinal aganglionosis by wave DNA fragment analysis system. | 12632375 | 2003 | ||||
|
0.070 | GeneticVariation | disease | BEFREE | Here we describe a homozygous mutation of the human gene for the RET tyrosine kinase domain that was present in a male neonate with total intestinal aganglionosis. | 11316186 | 2001 | ||||
|
0.070 | GeneticVariation | disease | BEFREE | A homozygous (or hemizygous) RET mutation was found in a male baby with total intestinal aganglionosis, while the heterozygosity of the same mutation resulted in a less severe type of aganglionosis. | 10946353 | 2000 | ||||
|
0.070 | GeneticVariation | disease | BEFREE | Germline mutation of the RET proto-oncogene in children with total intestinal aganglionosis. | 9094027 | 1997 |