fibroblast growth factor receptor 1
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Diagnostic Grade (Green)
Clefting
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownCommon craniosynostosis syndromes
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownDDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownFetal anomalies
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownHoloprosencephaly
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedHydrocephalus
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownHypogonadotropic hypogonadism
BIALLELIC, autosomal or pseudoautosomalHypogonadotropic hypogonadism (GMS)
BIALLELIC, autosomal or pseudoautosomal+12 more panels — install the extension to see the full list inline on any page.
hypogonadotropic hypogonadism 2 with or without anosmia
Hartsfield-Bixler-Demyer syndrome
Pfeiffer syndrome
osteoglophonic dysplasia
hypogonadotropic hypogonadism
encephalocraniocutaneous lipomatosis
cancer
Kallmann syndrome
Jackson-Weiss syndrome
trigonocephaly 1
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Fibroblast growth factor receptor 1
Tyrosine-protein kinase that acts as a cell-surface receptor for fibroblast growth factors and plays an essential role in the regulation of embryonic development, cell proliferation, differentiation and migration. Required for normal mesoderm patterning and correct axial organization during embryonic development, normal skeletogenesis and normal development of the gonadotropin-releasing hormone (GnRH) neuronal system. Phosphorylates PLCG1, FRS2, GAB1 and SHB. Ligand binding leads to the activation of several signaling cascades. Activation of PLCG1 leads to the production of the cellular signaling molecules diacylglycerol and inositol 1,4,5-trisphosphate. Phosphorylation of FRS2 triggers recruitment of GRB2, GAB1, PIK3R1 and SOS1, and mediates activation of RAS, MAPK1/ERK2, MAPK3/ERK1 and the MAP kinase signaling pathway, as well as of the AKT1 signaling pathway. Promotes phosphorylation of SHC1, STAT1 and PTPN11/SHP2. In the nucleus, enhances RPS6KA1 and CREB1 activity and contributes to the regulation of transcription. FGFR1 signaling is down-regulated by IL17RD/SEF, and by FGFR1 ubiquitination, internalization and degradation
Curated MONDO disease pages that list FGFR1 among their top associated genes.
FGFR1 · P11362
Mean pLDDT
73.9/ 100
Confident
822 residues
Confidence breakdown
AlphaFold (Jumper et al., 2021) · CC BY 4.0
