RET, ret proto-oncogene, 5979

N. diseases: 607; N. variants: 162
Disease: Pheochromocytoma ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs76262710
rs76262710
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C0031511
Disease:
Pheochromocytoma 		0.720 GeneticVariation BEFREE The novel variants K666E, IVS9-11G-->A, D631V in cis with H665Q, D631E (with C634Y), E623K (in trans with C618S), 616delGAG (in trans with C609Y), Y606C, C630R, and R635-T636insELCR;T636P were detected in patients with various clinical presentations ranging from thyroid goiter, medullary thyroid carcinoma, and pheochromocytoma to classic multiple endocrine neoplasia type 2A. 15858153 2005
dbSNP: rs76262710
rs76262710
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C0031511
Disease:
Pheochromocytoma 		0.720 GeneticVariation BEFREE In this report, we show that Cys 618 Arg mutation cosegregates with familial MTC and HSCR in two Moroccan Jewish families in which no involvement of pheochromocytoma or parathyroidism was observed. 9259198 1997
dbSNP: rs76262710
rs76262710
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C0031511
Disease:
Pheochromocytoma 		G 0.720 CausalMutation CLINVAR