RET, ret proto-oncogene, 5979

N. diseases: 607; N. variants: 162
Disease: C-cell hyperplasia of thyroid ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs79781594
rs79781594
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C0342190
Disease:
C-cell hyperplasia of thyroid 		0.030 GeneticVariation BEFREE Mice expressing RET(C618F) display mild C cell hyperplasia and increased numbers of enteric neurons, indicating that RET(C618F) confers gain-of-function phenotypes. 30884088 2019
dbSNP: rs79781594
rs79781594
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C0342190
Disease:
C-cell hyperplasia of thyroid 		0.030 GeneticVariation BEFREE The age-related progression of MTC across histopathological groups (normal thyroid/C-cell hyperplasia; node-negative MTC; node-positive MTC) was statistically significant for 13 unique RET mutations (p.Cys611Phe/c.1832G > T; p.Cys611Tyr; p.Cys618Ser/c.1852T > A; p.Cys620Arg; p.Cys634Arg; p.Cys634Phe; p.Cys634Ser; p.Cys634Tyr; p.Glu768Asp; p.Leu790Phe/c.2370G > T; p.Val804Met; p.Ser891Ala; p.Met918Thr), whereas two unique RET mutations (p.Cys618Phe; p.Cys634Gly) trended toward statistical significance. 29656518 2018
dbSNP: rs79781594
rs79781594
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C0342190
Disease:
C-cell hyperplasia of thyroid 		0.030 GeneticVariation BEFREE Histopathology revealed bilateral/unilateral MTC in 15/17 (88.2%; median diameter, 1.0 cm) and bilateral C-cell hyperplasia in 2/17 (11.8%; p.V292M/R67H/R982C and p.C618Y). 23849459 2013