PYCR1, pyrroline-5-carboxylate reductase 1, 5831

N. diseases: 126; N. variants: 12
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121918378
rs121918378
Entrez Id: 5831
Gene Symbol: PYCR1
PYCR1
CUI: C3280799
Disease:
CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIB 		0.800 GeneticVariation UNIPROT Compound heterozygous mutations in PYCR1 further expand the phenotypic spectrum of De Barsy syndrome. 22052856 2011
dbSNP: rs281875318
rs281875318
Entrez Id: 5831
Gene Symbol: PYCR1
PYCR1
CUI: C3280799
Disease:
CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIB 		0.800 GeneticVariation UNIPROT Compound heterozygous mutations in PYCR1 further expand the phenotypic spectrum of De Barsy syndrome. 22052856 2011
dbSNP: rs281875319
rs281875319
Entrez Id: 5831
Gene Symbol: PYCR1
PYCR1
CUI: C3280799
Disease:
CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIB 		0.800 GeneticVariation UNIPROT Compound heterozygous mutations in PYCR1 further expand the phenotypic spectrum of De Barsy syndrome. 22052856 2011
dbSNP: rs121918374
rs121918374
Entrez Id: 5831
Gene Symbol: PYCR1
PYCR1
CUI: C2751987
Disease:
Cutis Laxa, Autosomal Recessive, Type IIB 		0.800 GeneticVariation UNIPROT Mutations in PYCR1 cause cutis laxa with progeroid features. 19648921 2009
dbSNP: rs121918374
rs121918374
Entrez Id: 5831
Gene Symbol: PYCR1
PYCR1
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
dbSNP: rs121918375
rs121918375
Entrez Id: 5831
Gene Symbol: PYCR1
PYCR1
CUI: C2751987
Disease:
Cutis Laxa, Autosomal Recessive, Type IIB 		0.800 GeneticVariation UNIPROT Mutations in PYCR1 cause cutis laxa with progeroid features. 19648921 2009
dbSNP: rs121918375
rs121918375
Entrez Id: 5831
Gene Symbol: PYCR1
PYCR1
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
dbSNP: rs121918376
rs121918376
Entrez Id: 5831
Gene Symbol: PYCR1
PYCR1
CUI: C2751987
Disease:
Cutis Laxa, Autosomal Recessive, Type IIB 		0.800 GeneticVariation UNIPROT Mutations in PYCR1 cause cutis laxa with progeroid features. 19648921 2009
dbSNP: rs121918376
rs121918376
Entrez Id: 5831
Gene Symbol: PYCR1
PYCR1
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
dbSNP: rs121918377
rs121918377
Entrez Id: 5831
Gene Symbol: PYCR1
PYCR1
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
dbSNP: rs121918377
rs121918377
Entrez Id: 5831
Gene Symbol: PYCR1
PYCR1
CUI: C2751987
Disease:
Cutis Laxa, Autosomal Recessive, Type IIB 		0.800 GeneticVariation UNIPROT Mutations in PYCR1 cause cutis laxa with progeroid features. 19648921 2009
dbSNP: rs121918378
rs121918378
Entrez Id: 5831
Gene Symbol: PYCR1
PYCR1
CUI: C3280799
Disease:
CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIB 		0.800 GeneticVariation UNIPROT Mutations in PYCR1 cause cutis laxa with progeroid features. 19648921 2009
dbSNP: rs139751598
rs139751598
Entrez Id: 5831
Gene Symbol: PYCR1
PYCR1
CUI: C2751987
Disease:
Cutis Laxa, Autosomal Recessive, Type IIB 		0.800 GeneticVariation UNIPROT Mutations in PYCR1 cause cutis laxa with progeroid features. 19648921 2009
dbSNP: rs139751598
rs139751598
Entrez Id: 5831
Gene Symbol: PYCR1
PYCR1
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
dbSNP: rs281875318
rs281875318
Entrez Id: 5831
Gene Symbol: PYCR1
PYCR1
CUI: C3280799
Disease:
CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIB 		0.800 GeneticVariation UNIPROT Mutations in PYCR1 cause cutis laxa with progeroid features. 19648921 2009
dbSNP: rs281875319
rs281875319
Entrez Id: 5831
Gene Symbol: PYCR1
PYCR1
CUI: C3280799
Disease:
CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIB 		0.800 GeneticVariation UNIPROT Mutations in PYCR1 cause cutis laxa with progeroid features. 19648921 2009
dbSNP: rs121918374
rs121918374
Entrez Id: 5831
Gene Symbol: PYCR1
PYCR1
CUI: C2751987
Disease:
Cutis Laxa, Autosomal Recessive, Type IIB 		T 0.800 CausalMutation CLINVAR
dbSNP: rs121918375
rs121918375
Entrez Id: 5831
Gene Symbol: PYCR1
PYCR1
CUI: C2751987
Disease:
Cutis Laxa, Autosomal Recessive, Type IIB 		A 0.800 CausalMutation CLINVAR
dbSNP: rs121918376
rs121918376
Entrez Id: 5831
Gene Symbol: PYCR1
PYCR1
CUI: C2751987
Disease:
Cutis Laxa, Autosomal Recessive, Type IIB 		C 0.800 CausalMutation CLINVAR
dbSNP: rs121918376
rs121918376
Entrez Id: 5831
Gene Symbol: PYCR1
PYCR1
CUI: C2751987
Disease:
Cutis Laxa, Autosomal Recessive, Type IIB 		A 0.800 CausalMutation CLINVAR
dbSNP: rs121918377
rs121918377
Entrez Id: 5831
Gene Symbol: PYCR1
PYCR1
CUI: C2751987
Disease:
Cutis Laxa, Autosomal Recessive, Type IIB 		T 0.800 CausalMutation CLINVAR
dbSNP: rs121918378
rs121918378
Entrez Id: 5831
Gene Symbol: PYCR1
PYCR1
CUI: C3280799
Disease:
CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIB 		T 0.800 CausalMutation CLINVAR
dbSNP: rs139751598
rs139751598
Entrez Id: 5831
Gene Symbol: PYCR1
PYCR1
CUI: C2751987
Disease:
Cutis Laxa, Autosomal Recessive, Type IIB 		T 0.800 CausalMutation CLINVAR
dbSNP: rs281875318
rs281875318
Entrez Id: 5831
Gene Symbol: PYCR1
PYCR1
CUI: C3280799
Disease:
CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIB 		T 0.800 CausalMutation CLINVAR
dbSNP: rs281875319
rs281875319
Entrez Id: 5831
Gene Symbol: PYCR1
PYCR1
CUI: C3280799
Disease:
CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIB 		T 0.800 CausalMutation CLINVAR