Annotation Detail
Information
- Associated Genes
- FGFR1
- Associated Variants
-
FGFR2 p.Pro253Arg (p.P253R)
(
ENST00000369059.5,
ENST00000346997.6,
ENST00000351936.11,
ENST00000356226.8,
ENST00000357555.9,
ENST00000358487.10,
ENST00000360144.7,
ENST00000369060.8,
ENST00000369061.8,
ENST00000457416.7,
ENST00000478859.5,
ENST00000369056.5,
ENST00000613048.4,
ENST00000638709.2,
ENST00000682550.1,
ENST00000682772.1,
ENST00000683211.1,
ENST00000684153.1 )
FGFR1 p.Pro250Arg (p.P250R) ( ENST00000326324.10, ENST00000335922.9, ENST00000341462.9, ENST00000356207.9, ENST00000397091.9, ENST00000397103.5, ENST00000397108.8, ENST00000397113.6, ENST00000425967.8, ENST00000447712.7, ENST00000532791.5, ENST00000683765.1, ENST00000683815.1, ENST00000684654.1, ENST00000703405.1 )
FGFR2 p.Pro253Arg (p.P253R) ( ENST00000346997.6, ENST00000351936.11, ENST00000356226.8, ENST00000357555.9, ENST00000358487.10, ENST00000360144.7, ENST00000369056.5, ENST00000369059.5, ENST00000369060.8, ENST00000369061.8, ENST00000457416.7, ENST00000478859.5, ENST00000613048.4, ENST00000638709.2, ENST00000682550.1, ENST00000682772.1, ENST00000683211.1, ENST00000684153.1 )
FGFR1 p.Pro250Arg (p.P250R) ( ENST00000326324.10, ENST00000335922.9, ENST00000341462.9, ENST00000356207.9, ENST00000397091.9, ENST00000397103.5, ENST00000397108.8, ENST00000397113.6, ENST00000425967.8, ENST00000447712.7, ENST00000532791.5, ENST00000683765.1, ENST00000683815.1, ENST00000684654.1, ENST00000703405.1 ) - Associated Disease
- Apert syndrome
- Source Database
- DisGeNET
- Description
- In this paper the expression of FGFR1, the IgIIIa/c and IgIIIa/b isoforms of FGFR2, and FGFR3 is investigated in Apert syndrome (P253R mutation)- and Pfeiffer syndrome (C278F mutation)-affected fetal cranial tissue and is contrasted with healthy human control tissues.
- Pubmed
- 11596961
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00081432561624091
- Year of publication
- 2001
Drugs