rs121918376, PYCR1

N. diseases: 3
Disease: Cutis Laxa ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Cutis Laxa
CUI: C0010495
Disease: Cutis Laxa
0.020 GeneticVariation BEFREE Our study provides insight into the possible role of the R119G mutation during interactions between P5CR and NAD, thus bettering our understanding of how the mutation promotes cutis laxa. 28095341 2017
Cutis Laxa
CUI: C0010495
Disease: Cutis Laxa
0.020 GeneticVariation BEFREE Among the 348 identified SNPs, 15 were predicted to be potentially damaging by both SIFT and PolyPhen tools; of them two SNP-derived mutations, R119G and G206W, have been previously reported to correlate with Cutis Laxa. 27677826 2017