rs387907027, RSPO4

N. diseases: 2
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
NAIL DISORDER, NONSYNDROMIC CONGENITAL, 4
CUI: C3277900
Disease: NAIL DISORDER, NONSYNDROMIC CONGENITAL, 4
0.700 CausalMutation CLINVAR
ANONYCHIA
CUI: C0265998
Disease: ANONYCHIA
0.010 GeneticVariation BEFREE Here, we expand the RSPO4 mutational spectrum by identification of the previously unknown mutations c.190C>T (p.Arg64Cys) in exon 2 and c.301C>T (p.Gln101X) in exon 3, thereby corroborating R-spondin 4 as the major protein in autosomal-recessive anonychia. 17914448 2008