Annotation Detail
Information
- Associated Genes
- STAMBP
- Associated Variants
-
STAMBP MUTATION
STAMBP MUTATION - Associated Disease
- alopecia areata
- Source Database
- DisGeNET
- Description
- Herein, we describe an Arab family of two siblings with classic features of MIC-CAP syndrome that harbor a novel predicted splice mutation in STAMBP, which additionally display previously unreported findings of congenital hypothyroidism and alopecia areata.
- Pubmed
- 25692795
- Section of the abstract supporting the evidence
- ALL_TEXT_3/3
- Number of the section of the abstract supporting the evidence
- 3
- Number of the sentence supporting the evidence
- 4
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000271441872080303
Drugs