Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Lacrimoauriculodentodigital syndrome
0.720 CausalMutation disease CLINVAR 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 2008
Lacrimoauriculodentodigital syndrome
0.720 CausalMutation disease CLINVAR Structural basis for reduced FGFR2 activity in LADD syndrome: Implications for FGFR autoinhibition and activation. 18056630 2008
Lacrimoauriculodentodigital syndrome
0.720 CausalMutation disease CLINVAR Mutations in fibroblast growth factor receptor 2 (FGFR2) and its ligand, FGF10, are known to cause lacrimo-auriculo-dento-digital (LADD) syndrome. 18056630 2008
Lacrimoauriculodentodigital syndrome
0.720 GeneticVariation disease UNIPROT Structural basis for reduced FGFR2 activity in LADD syndrome: Implications for FGFR autoinhibition and activation. 18056630 2008
Lacrimoauriculodentodigital syndrome
0.720 AlteredExpression disease BEFREE Structural basis for reduced FGFR2 activity in LADD syndrome: Implications for FGFR autoinhibition and activation. 18056630 2008
Lacrimoauriculodentodigital syndrome
0.720 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 2008
Lacrimoauriculodentodigital syndrome
0.720 GeneticVariation disease UNIPROT Mutations in fibroblast growth factor receptor 2 (FGFR2) and its ligand, FGF10, are known to cause lacrimo-auriculo-dento-digital (LADD) syndrome. 18056630 2008
Lacrimoauriculodentodigital syndrome
0.720 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 2008
Lacrimoauriculodentodigital syndrome
0.720 GeneticVariation disease UNIPROT Mutations in different components of FGF signaling in LADD syndrome. 16501574 2006
Lacrimoauriculodentodigital syndrome
0.720 CausalMutation disease CLINVAR Mutations in different components of FGF signaling in LADD syndrome. 16501574 2006
Lacrimoauriculodentodigital syndrome
0.720 Biomarker disease CTD_human
Lacrimoauriculodentodigital syndrome
0.720 GermlineCausalMutation disease ORPHANET