Annotation Detail
Information
- Associated Genes
- KIT
- Associated Variants
-
KIT MUTATION
KIT MUTATION - Associated Disease
- piebaldism
- Source Database
- DisGeNET
- Description
- 4q12-4q21.21 deletion genotype-phenotype correlation and the absence of piebaldism in presence of KIT haploinsufficiency.
- Pubmed
- 25355368
- Section of the abstract supporting the evidence
- TITLE
- Number of the section of the abstract supporting the evidence
- 0
- Number of the sentence supporting the evidence
- 0
- Original source reporting the Gene Disease association
- BeFree,CLINVAR,CTD_human,MGD,ORPHANET,UNIPROT
- DisGENET score for the Gene Disease association
- 0.566514604929927
Drugs