Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121434410
rs121434410
Entrez Id: 8575;101927027
Gene Symbol: PRKRA;CHROMR
PRKRA;CHROMR
CUI: C2677567
Disease:
DYSTONIA 16 (disorder)
A 0.800 CausalMutation CLINVAR PRKRA Mutation Causing Early-Onset Generalized Dystonia-Parkinsonism (DYT16) in an Italian Family. 26990861 2016
dbSNP: rs121434410
rs121434410
Entrez Id: 8575;101927027
Gene Symbol: PRKRA;CHROMR
PRKRA;CHROMR
CUI: C2677567
Disease:
DYSTONIA 16 (disorder)
A 0.800 CausalMutation CLINVAR Altered activation of protein kinase PKR and enhanced apoptosis in dystonia cells carrying a mutation in PKR activator protein PACT. 26231208 2015
dbSNP: rs121434410
rs121434410
Entrez Id: 8575;101927027
Gene Symbol: PRKRA;CHROMR
PRKRA;CHROMR
CUI: C2677567
Disease:
DYSTONIA 16 (disorder)
A 0.800 CausalMutation CLINVAR DYT16 revisited: exome sequencing identifies PRKRA mutations in a European dystonia family. 25142429 2014
dbSNP: rs9283487
rs9283487
Entrez Id: 8575;101927027
Gene Symbol: PRKRA;CHROMR
PRKRA;CHROMR
CUI: C0026769
Disease:
Multiple Sclerosis
0.800 GeneticVariation GWASDB Oligoclonal band status in Scandinavian multiple sclerosis patients is associated with specific genetic risk alleles. 23472185 2013
dbSNP: rs9283487
rs9283487
Entrez Id: 8575;101927027
Gene Symbol: PRKRA;CHROMR
PRKRA;CHROMR
CUI: C0026769
Disease:
Multiple Sclerosis
0.800 GeneticVariation GWASCAT Oligoclonal band status in Scandinavian multiple sclerosis patients is associated with specific genetic risk alleles. 23472185 2013
dbSNP: rs121434410
rs121434410
Entrez Id: 8575;101927027
Gene Symbol: PRKRA;CHROMR
PRKRA;CHROMR
CUI: C2677567
Disease:
DYSTONIA 16 (disorder)
A 0.800 CausalMutation CLINVAR DYT16, a novel young-onset dystonia-parkinsonism disorder: identification of a segregating mutation in the stress-response protein PRKRA. 18243799 2008
dbSNP: rs121434410
rs121434410
Entrez Id: 8575;101927027
Gene Symbol: PRKRA;CHROMR
PRKRA;CHROMR
CUI: C2677567
Disease:
DYSTONIA 16 (disorder)
0.800 GeneticVariation UNIPROT A heterozygous frameshift mutation in PRKRA (DYT16) associated with generalised dystonia in a German patient. 18420150 2008
dbSNP: rs121434410
rs121434410
Entrez Id: 8575;101927027
Gene Symbol: PRKRA;CHROMR
PRKRA;CHROMR
CUI: C2677567
Disease:
DYSTONIA 16 (disorder)
0.800 GeneticVariation UNIPROT DYT16, a novel young-onset dystonia-parkinsonism disorder: identification of a segregating mutation in the stress-response protein PRKRA. 18243799 2008
dbSNP: rs10930831
rs10930831
Entrez Id: 8575;101927027
Gene Symbol: PRKRA;CHROMR
PRKRA;CHROMR
CUI: C2985280
Disease:
Blood Protein Measurement
G 0.700 GeneticVariation GWASCAT Co-regulatory networks of human serum proteins link genetics to disease. 30072576 2018
dbSNP: rs75862065
rs75862065
Entrez Id: 8575
Gene Symbol: PRKRA
PRKRA
CUI: C0392885
Disease:
High density lipoprotein measurement
A 0.700 GeneticVariation GWASCAT Exome-wide association study of plasma lipids in >300,000 individuals. 29083408 2017
dbSNP: rs62176107
rs62176107
Entrez Id: 8575;101927027
Gene Symbol: PRKRA;CHROMR
PRKRA;CHROMR
CUI: C0033860
Disease:
Psoriasis
0.700 GeneticVariation GWASCAT Genome-wide comparative analysis of atopic dermatitis and psoriasis gives insight into opposing genetic mechanisms. 25574825 2015
dbSNP: rs62176107
rs62176107
Entrez Id: 8575;101927027
Gene Symbol: PRKRA;CHROMR
PRKRA;CHROMR
CUI: C0011615
Disease:
Dermatitis, Atopic
0.700 GeneticVariation GWASCAT Genome-wide comparative analysis of atopic dermatitis and psoriasis gives insight into opposing genetic mechanisms. 25574825 2015
dbSNP: rs730880307
rs730880307
Entrez Id: 8575
Gene Symbol: PRKRA
PRKRA
CUI: C2677567
Disease:
DYSTONIA 16 (disorder)
C 0.700 CausalMutation CLINVAR
dbSNP: rs2059691
rs2059691
Entrez Id: 8575;101927027
Gene Symbol: PRKRA;CHROMR
PRKRA;CHROMR
CUI: C0009402
Disease:
Colorectal Carcinoma
0.010 GeneticVariation BEFREE One SNP, rs2059691 (PRKRA), was associated with increased mRNA expression and worse survival, and one SNP, rs6598964 (LIN28A), decreased risk of developing colon cancer [OR = 0.77 95% CI (0.61, 0.98)] and increased risk of dying from CRC (HRR = 2.26 95% CI (1.52, 3.36).P<sub>Holm</sub>  = 0.003). 27859935 2017
dbSNP: rs2059691
rs2059691
Entrez Id: 8575;101927027
Gene Symbol: PRKRA;CHROMR
PRKRA;CHROMR
CUI: C0007102
Disease:
Malignant tumor of colon
0.010 GeneticVariation BEFREE One SNP, rs2059691 (PRKRA), was associated with increased mRNA expression and worse survival, and one SNP, rs6598964 (LIN28A), decreased risk of developing colon cancer [OR = 0.77 95% CI (0.61, 0.98)] and increased risk of dying from CRC (HRR = 2.26 95% CI (1.52, 3.36).P<sub>Holm</sub>  = 0.003). 27859935 2017
dbSNP: rs2059691
rs2059691
Entrez Id: 8575;101927027
Gene Symbol: PRKRA;CHROMR
PRKRA;CHROMR
CUI: C0699790
Disease:
Colon Carcinoma
0.010 GeneticVariation BEFREE One SNP, rs2059691 (PRKRA), was associated with increased mRNA expression and worse survival, and one SNP, rs6598964 (LIN28A), decreased risk of developing colon cancer [OR = 0.77 95% CI (0.61, 0.98)] and increased risk of dying from CRC (HRR = 2.26 95% CI (1.52, 3.36).P<sub>Holm</sub>  = 0.003). 27859935 2017
dbSNP: rs1967327
rs1967327
Entrez Id: 8575;494513
Gene Symbol: PRKRA;PJVK
PRKRA;PJVK
CUI: C0699790
Disease:
Colon Carcinoma
0.010 GeneticVariation BEFREE Eleven SNPs were associated (P < 0.05) with colon cancer risk, and two of these variants remained significant after correction for multiple comparisons (PHolm < 0.05): rs1967327 (PRKRA) (ORdom = 0.78, 95 % CI 0.66-0.92) and rs4548444 (MAPKAP2) (ORrec = 1.67, 95 % CI 1.12-2.48). 27107574 2016
dbSNP: rs1967327
rs1967327
Entrez Id: 8575;494513
Gene Symbol: PRKRA;PJVK
PRKRA;PJVK
CUI: C0007102
Disease:
Malignant tumor of colon
0.010 GeneticVariation BEFREE Eleven SNPs were associated (P < 0.05) with colon cancer risk, and two of these variants remained significant after correction for multiple comparisons (PHolm < 0.05): rs1967327 (PRKRA) (ORdom = 0.78, 95 % CI 0.66-0.92) and rs4548444 (MAPKAP2) (ORrec = 1.67, 95 % CI 1.12-2.48). 27107574 2016
dbSNP: rs121434410
rs121434410
Entrez Id: 8575;101927027
Gene Symbol: PRKRA;CHROMR
PRKRA;CHROMR
CUI: C0013421
Disease:
Dystonia
0.010 GeneticVariation BEFREE A recessively inherited form of early-onset dystonia DYT16 has been recently identified to arise due to a homozygous missense mutation P222L in PACT. 26231208 2015
dbSNP: rs121434410
rs121434410
Entrez Id: 8575;101927027
Gene Symbol: PRKRA;CHROMR
PRKRA;CHROMR
CUI: C0393593
Disease:
Dystonia Disorders
0.010 GeneticVariation BEFREE A recessively inherited form of early-onset dystonia DYT16 has been recently identified to arise due to a homozygous missense mutation P222L in PACT. 26231208 2015
dbSNP: rs1265889947
rs1265889947
Entrez Id: 8575;494513
Gene Symbol: PRKRA;PJVK
PRKRA;PJVK
CUI: C1997740
Disease:
Segmental dystonia
0.010 GeneticVariation BEFREE PRKRA mutational screening in additional dystonia samples revealed three novel heterozygous changes (p.Thr34Ser, p.Asn102Ser, c.-14A>G), each in a single subject with focal/segmental dystonia. 25142429 2014