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: C0220658
Disease: Pfeiffer Syndrome
Pfeiffer Syndrome 		1.000 Biomarker disease GENOMICS_ENGLAND
CUI: C0220658
Disease: Pfeiffer Syndrome
Pfeiffer Syndrome 		1.000 GeneticVariation disease CLINVAR
CUI: C1852406
Disease: Cutis Gyrata Syndrome of Beare And Stevenson
Cutis Gyrata Syndrome of Beare And Stevenson 		0.970 Biomarker disease CTD_human
CUI: C0795998
Disease: JACKSON-WEISS SYNDROME
JACKSON-WEISS SYNDROME 		0.760 Biomarker disease CTD_human
CUI: C0795998
Disease: JACKSON-WEISS SYNDROME
JACKSON-WEISS SYNDROME 		0.760 GeneticVariation disease CLINVAR
CUI: C0175699
Disease: Saethre-Chotzen Syndrome
Saethre-Chotzen Syndrome 		0.740 GeneticVariation disease CLINVAR
CUI: C0175699
Disease: Saethre-Chotzen Syndrome
Saethre-Chotzen Syndrome 		0.740 CausalMutation disease CLINVAR
CUI: C2936791
Disease: Antley-Bixler Syndrome, Autosomal Dominant
Antley-Bixler Syndrome, Autosomal Dominant 		0.740 CausalMutation disease CLINVAR
CUI: C2936791
Disease: Antley-Bixler Syndrome, Autosomal Dominant
Antley-Bixler Syndrome, Autosomal Dominant 		0.740 GeneticVariation disease CLINVAR
CUI: C0265269
Disease: Lacrimoauriculodentodigital syndrome
Lacrimoauriculodentodigital syndrome 		0.730 Biomarker disease CTD_human
CUI: C0265269
Disease: Lacrimoauriculodentodigital syndrome
Lacrimoauriculodentodigital syndrome 		0.730 GeneticVariation disease CLINVAR
CUI: C0265269
Disease: Lacrimoauriculodentodigital syndrome
Lacrimoauriculodentodigital syndrome 		0.730 CausalMutation disease CLINVAR
CUI: C3281247
Disease: BENT BONE DYSPLASIA SYNDROME
BENT BONE DYSPLASIA SYNDROME 		0.730 Biomarker disease CTD_human
CUI: C3281247
Disease: BENT BONE DYSPLASIA SYNDROME
BENT BONE DYSPLASIA SYNDROME 		0.730 GeneticVariation disease CLINVAR
CUI: C3281247
Disease: BENT BONE DYSPLASIA SYNDROME
BENT BONE DYSPLASIA SYNDROME 		0.730 CausalMutation disease CLINVAR
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.700 GeneticVariation disease UNIPROT
CUI: C0010273
Disease: Craniofacial Dysostosis
Craniofacial Dysostosis 		0.700 Biomarker disease HPO
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis 		0.700 Biomarker disease HPO
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis 		0.700 CausalMutation disease CLINVAR
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach 		0.700 Biomarker disease HPO
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach 		0.700 GenomicAlterations disease CGI
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach 		0.700 CausalMutation disease CGI
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma 		0.700 CausalMutation disease CLINVAR
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma 		0.700 CausalMutation disease CGI
CUI: C1865070
Disease: SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION
SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION 		0.700 CausalMutation disease CLINVAR