rs202145435, OSMR

N. diseases: 2
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Amyloidosis, Primary Cutaneous
CUI: C0268397
Disease: Amyloidosis, Primary Cutaneous
0.010 GeneticVariation BEFREE We noticed that three OSMR p.G513D carriers presenting with CA also had the RET p.S891A mutation. 26356818 2015
Familial medullary thyroid carcinoma
CUI: C1833921
Disease: Familial medullary thyroid carcinoma
0.010 GeneticVariation BEFREE Our investigation indicated that the RET p.S891A mutation combined with OSMR p.G513D may underlie a novel phenotype manifesting as FMTC and CA. 26356818 2015