Annotation Detail

Information
Associated Genes
MLH1
Associated Variants
MLH1 MUTATION
MLH1 MUTATION
Associated Disease
Neoplastic Syndromes, Hereditary
Source Database
DisGeNET
Description
HNPCC is an autosomal inherited cancer syndrome characterized by germinal and somatic mutations of DNA mismatch repair (MMR) genes.
Pubmed
25200962
Section of the abstract supporting the evidence
ALL_TEXT_1/3
Number of the section of the abstract supporting the evidence
1
Number of the sentence supporting the evidence
1
Original source reporting the Gene Disease association
BeFree,CLINVAR
DisGENET score for the Gene Disease association
0.121357209360402
Drugs