rs78311289, FGFR3

N. diseases: 25
Disease: Osteochondrodysplasias ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Osteochondrodysplasias
CUI: C0029422
Disease: Osteochondrodysplasias
0.020 GeneticVariation BEFREE Acanthosis nigricans in a child with mild osteochondrodysplasia and K650Q mutation in the FGFR3 gene. 18000903 2007
Osteochondrodysplasias
CUI: C0029422
Disease: Osteochondrodysplasias
0.020 GeneticVariation BEFREE One tumour contained K652Q which has recently been identified in less severe cases of skeletal dysplasia. 11314002 2001