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 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 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 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 AlteredExpression disease BEFREE Structural basis for reduced FGFR2 activity in LADD syndrome: Implications for FGFR autoinhibition and activation. 18056630 2007
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: 8626
Gene Symbol: TP63
TP63 		0.010 Biomarker disease BEFREE These data suggest that <i>TP63</i> is a novel LADD syndrome gene and may also influence corneal thickness and risk for open-angle glaucoma. 28400699 2017
Entrez Id: 1913
Gene Symbol: EEC1
EEC1 		0.010 Biomarker disease BEFREE Split hand/split foot deformity and LADD syndrome in a family: overlap between the EEC and LADD syndromes. 8411061 1993
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 GeneticVariation disease CLINVAR
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2 		0.730 CausalMutation disease CLINVAR
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3 		0.720 CausalMutation disease CLINVAR Novel FGFR3 mutations creating cysteine residues in the extracellular domain of the receptor cause achondroplasia or severe forms of hypochondroplasia. 16912704 2006
Entrez Id: 2255
Gene Symbol: FGF10
FGF10 		0.930 Biomarker disease CTD_human
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2 		0.730 Biomarker disease CTD_human
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3 		0.720 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 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: 2263
Gene Symbol: FGFR2
FGFR2 		0.730 GermlineCausalMutation disease ORPHANET Mutations in different components of FGF signaling in LADD syndrome. 16501574 2006
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3 		0.720 GermlineCausalMutation disease ORPHANET Mutations in different components of FGF signaling in LADD syndrome. 16501574 2006
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: 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