Source: ALL
Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
---|---|---|---|---|---|---|---|---|---|---|---|
|
0.730 | CausalMutation | disease | CLINVAR | |||||||
|
0.720 | GeneticVariation | disease | BEFREE | In addition, this is the first FGFR3 mutation recognized in the Iranian LADD family. | 28483234 | 2017 | ||||
|
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 | ||||
|
0.720 | GeneticVariation | disease | UNIPROT | Mutations in different components of FGF signaling in LADD syndrome. | 16501574 | 2006 | ||||
|
0.720 | Biomarker | disease | GENOMICS_ENGLAND | Mutations in different components of FGF signaling in LADD syndrome. | 16501574 | 2006 | ||||
|
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 | ||||
|
0.720 | GermlineCausalMutation | disease | ORPHANET | Mutations in different components of FGF signaling in LADD syndrome. | 16501574 | 2006 | ||||
|
0.720 | Biomarker | disease | GENOMICS_ENGLAND | Stop codon FGFR3 mutations in thanatophoric dwarfism type 1. | 7647778 | 1995 | ||||
|
0.720 | Biomarker | disease | GENOMICS_ENGLAND | |||||||
|
0.720 | Biomarker | disease | CTD_human | |||||||
|
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 | ||||
|
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 |