Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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 GeneticVariation disease UNIPROT Mutations in different components of FGF signaling in LADD syndrome. 16501574 2006
Entrez Id: 2255
Gene Symbol: FGF10
FGF10
0.930 GeneticVariation disease CLINVAR
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 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 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: 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 GeneticVariation disease CLINVAR
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: 2261
Gene Symbol: FGFR3
FGFR3
0.720 GeneticVariation disease UNIPROT Mutations in different components of FGF signaling in LADD syndrome. 16501574 2006
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
0.720 GeneticVariation disease BEFREE Mutations in the gene that encodes Fibroblast Growth Factor Receptor 3 (FGFR3) are associated with Achondroplasia (MIM 100800), Hypochondroplasia (MIM 146000), Muenke Syndrome (MIM 602849), Thanatophoric Dysplasia (MIM 187600, MIM 187601) and Lacrimo-Auriculo-Dento-Digital Syndrome (MIM 149730).Here we report a clinical and molecular study in a large cohort of 125 Portuguese patients with these skeletal disorders. 19215249 2009
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
0.720 GeneticVariation disease BEFREE In addition, this is the first FGFR3 mutation recognized in the Iranian LADD family. 28483234 2017
Entrez Id: 2255
Gene Symbol: FGF10
FGF10
0.930 Biomarker disease CTD_human
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 Biomarker disease GENOMICS_ENGLAND
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 Biomarker disease GENOMICS_ENGLAND Morphogenesis. 9988217 1999
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 CTD_human
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 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 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 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 GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
0.720 Biomarker disease GENOMICS_ENGLAND Stop codon FGFR3 mutations in thanatophoric dwarfism type 1. 7647778 1995