rs776813259, SLCO2A1

N. diseases: 2
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE, 2
CUI: C3280800
Disease: HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE, 2
0.700 CausalMutation CLINVAR Three novel mutations in the SLCO2A1 gene in two Chinese families with primary hypertrophic osteoarthropathy. 24153155 2014
Osteoarthropathy, Primary Hypertrophic
CUI: C0029411
Disease: Osteoarthropathy, Primary Hypertrophic
0.010 GeneticVariation BEFREE We also identified known SLCO2A1 mutations, one homozygous for c.940+1G>A, and another compound heterozygous for c.940+1G>A and c.1807C>T (p.Arg603*) from two PDP families. 27134495 2016