rs121918376, PYCR1

N. diseases: 3
Disease: Cutis Laxa, Autosomal Recessive, Type IIB ×
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