RET, ret proto-oncogene, 5979

N. diseases: 607; N. variants: 162
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1619700
Disease: RENAL ADYSPLASIA
RENAL ADYSPLASIA
0.440 GeneticVariation disease BEFREE Although it is well known that RET mutation causes multiple endocrine neoplasia type 2A (MEN2A), thus far only 3 individuals have been reported to have MEN2A and renal agenesis/dysgenesis. 24152999 2014
CUI: C1619700
Disease: RENAL ADYSPLASIA
RENAL ADYSPLASIA
0.440 GeneticVariation disease BEFREE These results suggest that genomic alteration of RET or GDNF is not a major mechanism leading to renal agenesis and other severe kidney development defects. 21490379 2011
CUI: C1619700
Disease: RENAL ADYSPLASIA
RENAL ADYSPLASIA
0.440 GeneticVariation disease BEFREE Renal aplasia in humans is associated with RET mutations. 18252215 2008
CUI: C1619700
Disease: RENAL ADYSPLASIA
RENAL ADYSPLASIA
0.440 GeneticVariation disease BEFREE A targeted mutation in the tyrosine kinase domain of RET produced total intestinal aganglionosis and renal agenesis in homozygous transgenic mice. 11316186 2001
CUI: C1619700
Disease: RENAL ADYSPLASIA
RENAL ADYSPLASIA
0.440 CausalMutation disease CLINVAR
CUI: C1619700
Disease: RENAL ADYSPLASIA
RENAL ADYSPLASIA
0.440 Biomarker disease GENOMICS_ENGLAND
CUI: C1619700
Disease: RENAL ADYSPLASIA
RENAL ADYSPLASIA
0.440 Biomarker disease GENOMICS_ENGLAND