rs121918376, PYCR1

N. diseases: 3
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Cutis Laxa, Autosomal Recessive, Type IIB
CUI: C2751987
Disease: Cutis Laxa, Autosomal Recessive, Type IIB
0.800 GeneticVariation UNIPROT Mutations in PYCR1 cause cutis laxa with progeroid features. 19648921 2009
Cutis Laxa, Autosomal Recessive, Type IIB
CUI: C2751987
Disease: Cutis Laxa, Autosomal Recessive, Type IIB
0.800 GeneticVariation UNIPROT Mutation in pyrroline-5-carboxylate reductase 1 gene in families with cutis laxa type 2. 19576563 2009
Cutis Laxa, Autosomal Recessive, Type IIB
CUI: C2751987
Disease: Cutis Laxa, Autosomal Recessive, Type IIB
0.800 CausalMutation CLINVAR
Cutis Laxa, Autosomal Recessive, Type IIB
CUI: C2751987
Disease: Cutis Laxa, Autosomal Recessive, Type IIB
0.800 CausalMutation CLINVAR
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
Cutis laxa, autosomal recessive
CUI: C3665335
Disease: Cutis laxa, autosomal recessive
0.010 GeneticVariation BEFREE Taken together, our experimental results indicate the R119G mutation could be an involving pathomechanism for ARCL. 28194412 2017