FGFR2, fibroblast growth factor receptor 2, 2263

N. diseases: 731; N. variants: 141
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1852406
Disease: Cutis Gyrata Syndrome of Beare And Stevenson
Cutis Gyrata Syndrome of Beare And Stevenson 		0.970 GermlineCausalMutation disease ORPHANET Nosology and classification of genetic skeletal disorders: 2010 revision. 21438135 2011
CUI: C1510455
Disease: Acrocephalosyndactylia
Acrocephalosyndactylia 		0.880 GermlineCausalMutation disease ORPHANET Novel molecular pathways elicited by mutant FGFR2 may account for brain abnormalities in Apert syndrome. 23593218 2013
CUI: C1510455
Disease: Acrocephalosyndactylia
Acrocephalosyndactylia 		0.880 GermlineCausalMutation disease ORPHANET Biochemical analysis of pathogenic ligand-dependent FGFR2 mutations suggests distinct pathophysiological mechanisms for craniofacial and limb abnormalities. 15282208 2004
CUI: C0001193
Disease: Apert syndrome
Apert syndrome 		0.800 GermlineCausalMutation disease ORPHANET Since our gene expression results suggested that novel signaling elicited by mutant FGFR2 might be associated with central nervous system (CNS) development and maintenance, we next investigated if DEGs found in AS cells were also altered in the CNS of an AS mouse model. 23593218 2013
CUI: C0001193
Disease: Apert syndrome
Apert syndrome 		0.800 GermlineCausalMutation disease ORPHANET Here, we analyze the effect of the canonical AS mutations, the D321A PS mutation and the S252L/A315S double mutation on FGFR2 ligand binding affinity and specificity using surface plasmon resonance. 15282208 2004
CUI: C0795998
Disease: JACKSON-WEISS SYNDROME
JACKSON-WEISS SYNDROME 		0.760 GermlineCausalMutation disease ORPHANET Nosology and classification of genetic skeletal disorders: 2010 revision. 21438135 2011
CUI: C2936791
Disease: Antley-Bixler Syndrome, Autosomal Dominant
Antley-Bixler Syndrome, Autosomal Dominant 		0.740 GermlineCausalMutation disease ORPHANET We report the first case of ABS associated with an apparent dominant de novo mutation in the fibroblast growth factor receptor 2 (FGFR2) gene. 9605588 1998
CUI: C2936791
Disease: Antley-Bixler Syndrome, Autosomal Dominant
Antley-Bixler Syndrome, Autosomal Dominant 		0.740 GermlineCausalMutation disease ORPHANET Evidence for digenic inheritance in some cases of Antley-Bixler syndrome? 10633130 2000
CUI: C0265269
Disease: Lacrimoauriculodentodigital syndrome
Lacrimoauriculodentodigital syndrome 		0.730 GermlineCausalMutation disease ORPHANET Mutations in different components of FGF signaling in LADD syndrome. 16501574 2006
CUI: C3281247
Disease: BENT BONE DYSPLASIA SYNDROME
BENT BONE DYSPLASIA SYNDROME 		0.730 GermlineCausalMutation disease ORPHANET Bent bone dysplasia-FGFR2 type, a distinct skeletal disorder, has deficient canonical FGF signaling. 22387015 2012
CUI: C1865070
Disease: SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION
SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION 		0.700 GermlineCausalMutation disease ORPHANET Familial scaphocephaly syndrome caused by a novel mutation in the FGFR2 tyrosine kinase domain. 16061565 2005
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach 		0.700 GenomicAlterations disease CGI
CUI: C0038356
Disease: Stomach Neoplasms
Stomach Neoplasms 		0.620 GenomicAlterations group CGI
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma 		0.600 GenomicAlterations disease CGI
CUI: C0153943
Disease: Benign neoplasm of stomach
Benign neoplasm of stomach 		0.300 GenomicAlterations disease CGI
CUI: C0154060
Disease: Carcinoma in situ of stomach
Carcinoma in situ of stomach 		0.300 GenomicAlterations disease CGI
CUI: C0496905
Disease: Neoplasm of uncertain or unknown behavior of stomach
Neoplasm of uncertain or unknown behavior of stomach 		0.300 GenomicAlterations disease CGI
CUI: C0220658
Disease: Pfeiffer Syndrome
Pfeiffer Syndrome 		1.000 CausalMutation disease CLINVAR Apert syndrome results from localized mutations of FGFR2 and is allelic with Crouzon syndrome. 7719344 1995
CUI: C0220658
Disease: Pfeiffer Syndrome
Pfeiffer Syndrome 		1.000 CausalMutation disease CLINVAR The mutations in FGFR2-associated craniosynostoses are clustered in five structural elements of immunoglobulin-like domain III of the receptor. 9521581 1998
CUI: C0220658
Disease: Pfeiffer Syndrome
Pfeiffer Syndrome 		1.000 CausalMutation disease CLINVAR Differential effects of FGFR2 mutations on syndactyly and cleft palate in Apert syndrome. 8651276 1996
CUI: C0220658
Disease: Pfeiffer Syndrome
Pfeiffer Syndrome 		1.000 CausalMutation disease CLINVAR Mesodermal expression of Fgfr2S252W is necessary and sufficient to induce craniosynostosis in a mouse model of Apert syndrome. 22664175 2012
CUI: C0220658
Disease: Pfeiffer Syndrome
Pfeiffer Syndrome 		1.000 CausalMutation disease CLINVAR Mutations in the FGFR2 gene in Mexican patients with Apert syndrome. 25867380 2015
CUI: C0220658
Disease: Pfeiffer Syndrome
Pfeiffer Syndrome 		1.000 CausalMutation disease CLINVAR The C342R mutation in FGFR2 causes Crouzon syndrome with elbow deformity. 25759925 2015
CUI: C0220658
Disease: Pfeiffer Syndrome
Pfeiffer Syndrome 		1.000 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 		1.000 CausalMutation disease CLINVAR Mutation of the fibroblast growth factor receptor 2 gene in Japanese patients with Apert syndrome. 9462761 1998