rs1057519732, MAP2K1

N. diseases: 6
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Colorectal Neoplasms
CUI: C0009404
Disease: Colorectal Neoplasms
0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
Transitional cell carcinoma of bladder
CUI: C0279680
Disease: Transitional cell carcinoma of bladder
0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
Malignant Uterine Corpus Neoplasm
CUI: C0153574
Disease: Malignant Uterine Corpus Neoplasm
0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
Cutaneous Melanoma
CUI: C0151779
Disease: Cutaneous Melanoma
0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
melanoma
CUI: C0025202
Disease: melanoma
0.700 CausalMutation CLINVAR Preexisting MEK1 exon 3 mutations in V600E/KBRAF melanomas do not confer resistance to BRAF inhibitors. 22588879 2012
melanoma
CUI: C0025202
Disease: melanoma
0.700 CausalMutation CLINVAR Exome sequencing identifies recurrent somatic MAP2K1 and MAP2K2 mutations in melanoma. 22197931 2011
melanoma
CUI: C0025202
Disease: melanoma
0.700 CausalMutation CLINVAR MEK1 mutations confer resistance to MEK and B-RAF inhibition. 19915144 2009
CARDIOFACIOCUTANEOUS SYNDROME 3
CUI: C3809006
Disease: CARDIOFACIOCUTANEOUS SYNDROME 3
0.700 GeneticVariation CLINVAR