Source: ALL

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0265269
Disease: Lacrimoauriculodentodigital syndrome
Lacrimoauriculodentodigital syndrome 		0.720 GeneticVariation BEFREE In addition, this is the first FGFR3 mutation recognized in the Iranian LADD family. 28483234

2017
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0265269
Disease: Lacrimoauriculodentodigital syndrome
Lacrimoauriculodentodigital syndrome 		0.720 GeneticVariation 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
CUI: C0265269
Disease: Lacrimoauriculodentodigital syndrome
Lacrimoauriculodentodigital syndrome 		0.720 GeneticVariation UNIPROT Mutations in different components of FGF signaling in LADD syndrome. 16501574

2006
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0265269
Disease: Lacrimoauriculodentodigital syndrome
Lacrimoauriculodentodigital syndrome 		0.720 Biomarker GENOMICS_ENGLAND Mutations in different components of FGF signaling in LADD syndrome. 16501574

2006
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0265269
Disease: Lacrimoauriculodentodigital syndrome
Lacrimoauriculodentodigital syndrome 		0.720 CausalMutation 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: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0265269
Disease: Lacrimoauriculodentodigital syndrome
Lacrimoauriculodentodigital syndrome 		0.720 GermlineCausalMutation ORPHANET Mutations in different components of FGF signaling in LADD syndrome. 16501574

2006
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0265269
Disease: Lacrimoauriculodentodigital syndrome
Lacrimoauriculodentodigital syndrome 		0.720 Biomarker GENOMICS_ENGLAND Stop codon FGFR3 mutations in thanatophoric dwarfism type 1. 7647778

1995
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0265269
Disease: Lacrimoauriculodentodigital syndrome
Lacrimoauriculodentodigital syndrome 		0.720 Biomarker GENOMICS_ENGLAND

Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0265269
Disease: Lacrimoauriculodentodigital syndrome
Lacrimoauriculodentodigital syndrome 		0.720 Biomarker CTD_human