FGFR3, fibroblast growth factor receptor 3, 2261

N. diseases: 654; N. variants: 55
Disease: hearing impairment ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.410 GeneticVariation phenotype BEFREE Among them, novel variants causative of familial thrombocytopenia, sclerosis bone dysplasia and the first homozygous loss-of-function mutation in FGFR3 in human causing severe skeletal deformities, tall stature and hearing impairment were identified. 26415661 2015
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.410 Biomarker phenotype HPO
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.410 Biomarker phenotype GENOMICS_ENGLAND
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.410 GeneticVariation phenotype CLINVAR