Annotation Detail
Information
- Associated Genes
- FGFR1
- Associated Variants
-
FGFR1 MUTATION
FGFR1 MUTATION - Associated Disease
- Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip/Palate
- Source Database
- DisGeNET
- Description
- Novel de novo heterozygous FGFR1 mutation in two siblings with Hartsfield syndrome: a case of gonadal mosaicism.
- Pubmed
- 24888332
- 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,ORPHANET,UNIPROT
- DisGENET score for the Gene Disease association
- 0.360542883744161
Drugs