Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Lacrimoauriculodentodigital syndrome
0.720 GeneticVariation disease BEFREE Identification of a novel missence mutation in FGFR3 gene in an Iranian family with LADD syndrome by Next-Generation Sequencing. 28483234 2017
Lacrimoauriculodentodigital syndrome
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
Lacrimoauriculodentodigital syndrome
0.720 CausalMutation disease CLINVAR Mutations in different components of FGF signaling in LADD syndrome. 16501574 2006
Lacrimoauriculodentodigital syndrome
0.720 GeneticVariation disease UNIPROT 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