Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2255
Gene Symbol: FGF10
FGF10 		0.930 Biomarker disease MGD FGF and EDA pathways control initiation and branching of distinct subsets of developing nasal glands. 27590203 2016
Entrez Id: 2255
Gene Symbol: FGF10
FGF10 		0.930 GeneticVariation disease BEFREE Moreover, haploinsufficiency caused by defective FGF10 mutants leads to LADD syndrome. 17682060 2007
Entrez Id: 2255
Gene Symbol: FGF10
FGF10 		0.930 GeneticVariation disease BEFREE Mutations in fibroblast growth factor receptor 2 (FGFR2) and its ligand, FGF10, are known to cause lacrimo-auriculo-dento-digital (LADD) syndrome. 18056630 2007
Entrez Id: 2255
Gene Symbol: FGF10
FGF10 		0.930 GeneticVariation disease UNIPROT We conclude that ALSG and LADD syndrome may represent variable presentations of the same clinical spectrum caused by FGF10 mutations. 16630169 2006
Entrez Id: 2255
Gene Symbol: FGF10
FGF10 		0.930 Biomarker disease GENOMICS_ENGLAND We conclude that ALSG and LADD syndrome may represent variable presentations of the same clinical spectrum caused by FGF10 mutations. 16630169 2006
Entrez Id: 2255
Gene Symbol: FGF10
FGF10 		0.930 GeneticVariation disease UNIPROT Mutations in different components of FGF signaling in LADD syndrome. 16501574 2006
Entrez Id: 2255
Gene Symbol: FGF10
FGF10 		0.930 GermlineCausalMutation disease ORPHANET We conclude that ALSG and LADD syndrome may represent variable presentations of the same clinical spectrum caused by FGF10 mutations. 16630169 2006
Entrez Id: 2255
Gene Symbol: FGF10
FGF10 		0.930 GeneticVariation disease BEFREE We conclude that ALSG and LADD syndrome may represent variable presentations of the same clinical spectrum caused by FGF10 mutations. 16630169 2006
Entrez Id: 2255
Gene Symbol: FGF10
FGF10 		0.930 Biomarker disease GENOMICS_ENGLAND Morphogenesis. 9988217 1999
Entrez Id: 2255
Gene Symbol: FGF10
FGF10 		0.930 Biomarker disease CTD_human
Entrez Id: 2255
Gene Symbol: FGF10
FGF10 		0.930 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 2255
Gene Symbol: FGF10
FGF10 		0.930 GeneticVariation disease CLINVAR
Entrez Id: 2255
Gene Symbol: FGF10
FGF10 		0.930 CausalMutation disease CLINVAR
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2 		0.730 Biomarker disease BEFREE Together, these results identify a role for Fgfr2 in development of the middle ear skeletal tissues and suggest potential causes for conductive hearing loss in LADD syndrome. 30253032 2019
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2 		0.730 Biomarker disease GENOMICS_ENGLAND Whole-exome sequencing on deceased fetuses with ultrasound anomalies: expanding our knowledge of genetic disease during fetal development. 28425981 2017
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2 		0.730 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2 		0.730 Biomarker disease BEFREE Genetic studies have implicated heterozygous mutations in fibroblast growth factor 10 (FGF10) and in FGF receptor 2 (FGFR2) in LADD syndrome. 17682060 2007
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2 		0.730 GeneticVariation disease UNIPROT We aimed to elucidate the mechanism by which a missense mutation in the tyrosine kinase domain of FGFR2, described in the sporadic case of LADD syndrome, leads to reduced tyrosine kinase activity. 18056630 2007
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2 		0.730 AlteredExpression disease BEFREE Structural basis for reduced FGFR2 activity in LADD syndrome: Implications for FGFR autoinhibition and activation. 18056630 2007
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2 		0.730 GermlineCausalMutation disease ORPHANET Mutations in different components of FGF signaling in LADD syndrome. 16501574 2006
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2 		0.730 Biomarker disease GENOMICS_ENGLAND Mutations in different components of FGF signaling in LADD syndrome. 16501574 2006
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2 		0.730 GeneticVariation disease UNIPROT Mutations in different components of FGF signaling in LADD syndrome. 16501574 2006
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2 		0.730 Biomarker disease GENOMICS_ENGLAND Fibroblast growth factor receptor 2 mutations in Beare-Stevenson cutis gyrata syndrome. 8696350 1996
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2 		0.730 Biomarker disease CTD_human
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2 		0.730 GeneticVariation disease CLINVAR