Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C0025267
Disease: Multiple Endocrine Neoplasia Type 1
Multiple Endocrine Neoplasia Type 1 		0.200 GeneticVariation CLINVAR RET-familial medullary thyroid carcinoma mutants Y791F and S891A activate a Src/JAK/STAT3 pathway, independent of glial cell line-derived neurotrophic factor. 15753368

2005
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C0025267
Disease: Multiple Endocrine Neoplasia Type 1
Multiple Endocrine Neoplasia Type 1 		0.200 GeneticVariation CLINVAR The Glu632-Leu633 deletion in cysteine rich domain of Ret induces constitutive dimerization and alters the processing of the receptor protein. 10490816

1999
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C0025267
Disease: Multiple Endocrine Neoplasia Type 1
Multiple Endocrine Neoplasia Type 1 		0.200 GeneticVariation CLINVAR Biological and biochemical properties of Ret with kinase domain mutations identified in multiple endocrine neoplasia type 2B and familial medullary thyroid carcinoma. 10445857

1999
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C0025267
Disease: Multiple Endocrine Neoplasia Type 1
Multiple Endocrine Neoplasia Type 1 		0.200 GeneticVariation CLINVAR The different RET-activating capability of mutations of cysteine 620 or cysteine 634 correlates with the multiple endocrine neoplasia type 2 disease phenotype. 9012462

1997
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C0025267
Disease: Multiple Endocrine Neoplasia Type 1
Multiple Endocrine Neoplasia Type 1 		0.200 GeneticVariation CLINVAR Oncogenic activation of RET by two distinct FMTC mutations affecting the tyrosine kinase domain. 9242375

1997
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C0025267
Disease: Multiple Endocrine Neoplasia Type 1
Multiple Endocrine Neoplasia Type 1 		0.200 GeneticVariation CLINVAR RET activation by germline MEN2A and MEN2B mutations. 8570194

1995