Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs74799832
rs74799832
RET
CUI: C0025269
Disease: Multiple Endocrine Neoplasia Type 2b
Multiple Endocrine Neoplasia Type 2b 		0.900 GeneticVariation BEFREE Thus, while our results support the conclusion that the Met918Thr substitution is responsible for MEN2B, they suggest that the substrate specificity of the RET kinase does not interfere with its normal role in the development of the kidneys and enteric nervous system. 10675330

2000
dbSNP: rs74799832
rs74799832
RET
CUI: C0025269
Disease: Multiple Endocrine Neoplasia Type 2b
Multiple Endocrine Neoplasia Type 2b 		C 0.900 CausalMutation CLINVAR A two-hit model for development of multiple endocrine neoplasia type 2B by RET mutations. 10679286

2000
dbSNP: rs74799832
rs74799832
RET
CUI: C0025269
Disease: Multiple Endocrine Neoplasia Type 2b
Multiple Endocrine Neoplasia Type 2b 		0.900 GeneticVariation BEFREE Mutation analysis of exon 16 of the RET proto-oncogene revealed germline M918T and thus, a molecular diagnosis of multiple endocrine neoplasia type 2B (MEN 2B). 10369718

1999
dbSNP: rs74799832
rs74799832
RET
CUI: C0025269
Disease: Multiple Endocrine Neoplasia Type 2b
Multiple Endocrine Neoplasia Type 2b 		C 0.900 CausalMutation 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
dbSNP: rs74799832
rs74799832
RET
CUI: C0025269
Disease: Multiple Endocrine Neoplasia Type 2b
Multiple Endocrine Neoplasia Type 2b 		0.900 GeneticVariation BEFREE MEN2B is caused by a specific mutation (Met918-->Thr) in the RET receptor tyrosine kinase. 10023663

1999
dbSNP: rs74799832
rs74799832
RET
CUI: C0025269
Disease: Multiple Endocrine Neoplasia Type 2b
Multiple Endocrine Neoplasia Type 2b 		C 0.900 CausalMutation CLINVAR Oncogenic activation of RET by two distinct FMTC mutations affecting the tyrosine kinase domain. 9242375

1997
dbSNP: rs74799832
rs74799832
RET
CUI: C0025269
Disease: Multiple Endocrine Neoplasia Type 2b
Multiple Endocrine Neoplasia Type 2b 		0.900 GeneticVariation BEFREE They are represented by the Met918Thr substitution (exon 16) typical of Multiple Endocrine Neoplasia type 2B (MEN2B) and, to a lesser extent, by nucleotide changes occurring at one of five critical cysteine residues (exons 10 and 11) typical of MEN type 2A (MEN2A). 9191060

1997
dbSNP: rs74799832
rs74799832
RET
CUI: C0025269
Disease: Multiple Endocrine Neoplasia Type 2b
Multiple Endocrine Neoplasia Type 2b 		0.900 GeneticVariation UNIPROT The relationship between specific RET proto-oncogene mutations and disease phenotype in multiple endocrine neoplasia type 2. International RET mutation consortium analysis. 8918855

1996
dbSNP: rs74799832
rs74799832
RET
CUI: C0025269
Disease: Multiple Endocrine Neoplasia Type 2b
Multiple Endocrine Neoplasia Type 2b 		C 0.900 CausalMutation CLINVAR Multiple endocrine neoplasia type 2B (mucosal neuroma syndrome, Wagenmann-Froboese syndrome). 8880581

1996
dbSNP: rs74799832
rs74799832
RET
CUI: C0025269
Disease: Multiple Endocrine Neoplasia Type 2b
Multiple Endocrine Neoplasia Type 2b 		C 0.900 CausalMutation CLINVAR Activation of RET as a dominant transforming gene by germline mutations of MEN2A and MEN2B. 7824936

1995
dbSNP: rs74799832
rs74799832
RET
CUI: C0025269
Disease: Multiple Endocrine Neoplasia Type 2b
Multiple Endocrine Neoplasia Type 2b 		C 0.900 GeneticVariation CLINVAR RET activation by germline MEN2A and MEN2B mutations. 8570194

1995
dbSNP: rs74799832
rs74799832
RET
CUI: C0025269
Disease: Multiple Endocrine Neoplasia Type 2b
Multiple Endocrine Neoplasia Type 2b 		C 0.900 CausalMutation CLINVAR A mutation in the RET proto-oncogene associated with multiple endocrine neoplasia type 2B and sporadic medullary thyroid carcinoma. 7906866

1994
dbSNP: rs74799832
rs74799832
RET
CUI: C0025269
Disease: Multiple Endocrine Neoplasia Type 2b
Multiple Endocrine Neoplasia Type 2b 		C 0.900 CausalMutation CLINVAR Single missense mutation in the tyrosine kinase catalytic domain of the RET protooncogene is associated with multiple endocrine neoplasia type 2B. 7906417

1994