rs1318358361, ARID1B

N. diseases: 13
Disease: Epithelial hyperplasia of skin ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Epithelial hyperplasia of skin
CUI: C0263641
Disease: Epithelial hyperplasia of skin
0.010 GeneticVariation BEFREE This communication extends the clinical spectrum of the FGFR3 P250R mutation to encompass epidermal hyperplasia and documents the phenomenon of activated FGFR receptors stimulating common downstream developmental pathways, resulting in overlapping clinical outcomes. 11424131 2001