FGFR1, fibroblast growth factor receptor 1, 2260

N. diseases: 816; N. variants: 119
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1845146
Disease: Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip-Palate
Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip-Palate 		0.750 GermlineCausalMutation disease ORPHANET Dominant or recessive FGFR1 mutations are responsible for Hartsfield syndrome, consistent with the known roles of FGFR1 in vertebrate ontogeny and conditional Fgfr1-deficient mice. 23812909 2013
CUI: C0432283
Disease: Osteoglophonic dwarfism
Osteoglophonic dwarfism 		0.730 GermlineCausalMutation disease ORPHANET We demonstrate here that OD is caused by missense mutations in highly conserved residues comprising the ligand-binding and transmembrane domains of FGFR1, thus defining novel roles for this receptor as a negative regulator of long-bone growth. 15625620 2005
CUI: C0265535
Disease: Trigonocephaly
Trigonocephaly 		0.640 GermlineCausalMutation disease ORPHANET An unusual FGFR1 mutation (fibroblast growth factor receptor 1 mutation) in a girl with non-syndromic trigonocephaly. 11173846 2000
CUI: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome 		0.600 GermlineCausalMutation disease ORPHANET A total of 103 patients with either CPHD (n = 35) or SOD (n = 68) were investigated for mutations in genes implicated in the etiology of KS (FGFR1, FGF8, PROKR2, PROK2, and KAL1). 22319038 2012
CUI: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome 		0.600 GermlineCausalMutation disease ORPHANET To address this issue, we studied 2 families, one with Kallmann syndrome (IHH and anosmia) and another with normosmic IHH, in which a single-gene defect had been identified: a heterozygous FGF receptor 1 (FGFR1) mutation in pedigree 1 and a compound heterozygous gonadotropin-releasing hormone receptor (GNRHR) mutation in pedigree 2, both of which varied markedly in expressivity within and across families. 17235395 2007
CUI: C0338503
Disease: Septo-Optic Dysplasia
Septo-Optic Dysplasia 		0.420 GermlineCausalMutation disease ORPHANET Mutations in FGFR1/FGF8/PROKR2 contributed to 7.8% of our patients with CPHD/SOD. 22319038 2012
CUI: C0020608
Disease: Hypodontia
Hypodontia 		0.410 GermlineCausalMutation disease ORPHANET
CUI: C0751617
Disease: Semilobar Holoprosencephaly
Semilobar Holoprosencephaly 		0.400 GermlineCausalMutation disease ORPHANET Mutational Spectrum in Holoprosencephaly Shows That FGF is a New Major Signaling Pathway. 27363716 2016
CUI: C4082304
Disease: Oligodontia
Oligodontia 		0.400 GermlineCausalMutation disease ORPHANET
CUI: C3150773
Disease: CHROMOSOME 8p11 MYELOPROLIFERATIVE SYNDROME
CHROMOSOME 8p11 MYELOPROLIFERATIVE SYNDROME 		0.400 FusionGene disease ORPHANET Myeloid neoplasms associated with eosinophilia and rearrangement of PDGFRA, PDGFRB, and FGFR1: a review. 23489324 2013
CUI: C0206726
Disease: gliosarcoma
gliosarcoma 		0.300 FusionGene disease ORPHANET Transforming fusions of FGFR and TACC genes in human glioblastoma. 22837387 2012
CUI: C0334588
Disease: Giant Cell Glioblastoma
Giant Cell Glioblastoma 		0.300 FusionGene disease ORPHANET Transforming fusions of FGFR and TACC genes in human glioblastoma. 22837387 2012
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.600 GenomicAlterations disease CGI
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.600 GenomicAlterations disease CGI
CUI: C0149782
Disease: Squamous cell carcinoma of lung
Squamous cell carcinoma of lung 		0.400 GenomicAlterations disease CGI
CUI: C0018671
Disease: Head and Neck Neoplasms
Head and Neck Neoplasms 		0.300 GenomicAlterations group CGI
CUI: C0278996
Disease: Malignant Head and Neck Neoplasm
Malignant Head and Neck Neoplasm 		0.300 GenomicAlterations disease CGI
CUI: C0496956
Disease: Neoplasm of uncertain or unknown behavior of breast
Neoplasm of uncertain or unknown behavior of breast 		0.300 GenomicAlterations disease CGI
CUI: C0858252
Disease: Breast adenocarcinoma
Breast adenocarcinoma 		0.300 GenomicAlterations disease CGI
CUI: C3887461
Disease: Head and Neck Carcinoma
Head and Neck Carcinoma 		0.300 GenomicAlterations disease CGI
CUI: C0220658
Disease: Pfeiffer Syndrome
Pfeiffer Syndrome 		0.900 CausalMutation disease CLINVAR A Pro250Arg substitution in mouse Fgfr1 causes increased expression of Cbfa1 and premature fusion of calvarial sutures. 10942429 2000
CUI: C0220658
Disease: Pfeiffer Syndrome
Pfeiffer Syndrome 		0.900 CausalMutation disease CLINVAR Genotype and clinical care correlations in craniosynostosis: findings from a cohort of 630 Australian and New Zealand patients. 24127277 2013
CUI: C0220658
Disease: Pfeiffer Syndrome
Pfeiffer Syndrome 		0.900 CausalMutation disease CLINVAR The appearance of the feet in Pfeiffer syndrome caused by FGFR1 P252R mutation. 14564217 2003
CUI: C0220658
Disease: Pfeiffer Syndrome
Pfeiffer Syndrome 		0.900 CausalMutation disease CLINVAR Variable expressivity of pfeiffer syndrome in a family with FGFR1 p.Pro252Arg mutation. 25251565 2014
CUI: C0220658
Disease: Pfeiffer Syndrome
Pfeiffer Syndrome 		0.900 CausalMutation disease CLINVAR Here we present evidence that mutations in the fibroblast growth factor receptor-1 (FGFR1) gene, which maps to 8p, cause one form of familial Pfeiffer syndrome. 7874169 1994