Annotation Detail
Information
- Associated Genes
- MAP2K1
- Associated Variants
-
MAP2K1 MUTATION
MAP2K1 MUTATION - Associated Disease
- Cardio-facio-cutaneous syndrome
- Source Database
- DisGeNET
- Description
- He was found to have a novel heterozygous missense variant (c.305A > G; p.E102G) in MAP2K1, a gene mostly causal for cardio-facio-cutaneous syndrome (CFCS).
- Pubmed
- 25423878
- Section of the abstract supporting the evidence
- ALL_TEXT_2/3
- Number of the section of the abstract supporting the evidence
- 2
- Number of the sentence supporting the evidence
- 4
- Original source reporting the Gene Disease association
- BeFree,CTD_human,ORPHANET
- DisGENET score for the Gene Disease association
- 0.244071628081205
Drugs