Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs55743914
rs55743914
Entrez Id: 5796
Gene Symbol: PTPRK
PTPRK
CUI: C0007570
Disease:
Celiac Disease
T 0.800 GeneticVariation GWASCAT Dense genotyping identifies and localizes multiple common and rare variant association signals in celiac disease. 22057235 2011
dbSNP: rs55743914
rs55743914
Entrez Id: 5796
Gene Symbol: PTPRK
PTPRK
CUI: C0007570
Disease:
Celiac Disease
0.800 GeneticVariation GWASDB Dense genotyping identifies and localizes multiple common and rare variant association signals in celiac disease. 22057235 2011
dbSNP: rs3190930
rs3190930
Entrez Id: 5796
Gene Symbol: PTPRK
PTPRK
CUI: C0004096
Disease:
Asthma
T 0.700 GeneticVariation GWASCAT Shared genetics of asthma and mental health disorders: a large-scale genome-wide cross-trait analysis. 31619474 2019
dbSNP: rs3933376
rs3933376
Entrez Id: 5796
Gene Symbol: PTPRK
PTPRK
CUI: C0013595
Disease:
Eczema
0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs55743914
rs55743914
Entrez Id: 5796
Gene Symbol: PTPRK
PTPRK
CUI: C0004096
Disease:
Asthma
T 0.700 GeneticVariation GWASCAT Genetic Architectures of Childhood- and Adult-Onset Asthma Are Partly Distinct. 30929738 2019
dbSNP: rs55743914
rs55743914
Entrez Id: 5796
Gene Symbol: PTPRK
PTPRK
CUI: C0264408
Disease:
Childhood asthma
0.700 GeneticVariation GWASCAT Genetic Architectures of Childhood- and Adult-Onset Asthma Are Partly Distinct. 30929738 2019
dbSNP: rs9321106
rs9321106
Entrez Id: 5796;101928140
Gene Symbol: PTPRK;LOC101928140
PTPRK;LOC101928140
CUI: C1314691
Disease:
Age at menarche
0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs13197257
rs13197257
Entrez Id: 5796
Gene Symbol: PTPRK
PTPRK
CUI: C0596887
Disease:
mathematical ability
T 0.700 GeneticVariation GWASCAT Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals. 30038396 2018
dbSNP: rs13197257
rs13197257
Entrez Id: 5796
Gene Symbol: PTPRK
PTPRK
CUI: C0021704
Disease:
Intelligence
0.700 GeneticVariation GWASCAT Study of 300,486 individuals identifies 148 independent genetic loci influencing general cognitive function. 29844566 2018
dbSNP: rs13200150
rs13200150
Entrez Id: 5796
Gene Symbol: PTPRK
PTPRK
CUI: C0014548
Disease:
Epilepsy, Generalized
G 0.700 GeneticVariation GWASCAT Genome-wide mega-analysis identifies 16 loci and highlights diverse biological mechanisms in the common epilepsies. 30531953 2018
dbSNP: rs17055223
rs17055223
Entrez Id: 5796
Gene Symbol: PTPRK
PTPRK
CUI: C0678909
Disease:
Brain Waves
0.700 GeneticVariation GWASCAT Genome-wide association analysis links multiple psychiatric liability genes to oscillatory brain activity. 29947131 2018
dbSNP: rs1768353
rs1768353
Entrez Id: 5796
Gene Symbol: PTPRK
PTPRK
CUI: C1837461
Disease:
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3
0.700 GeneticVariation GWASCAT The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease. 30019117 2018
dbSNP: rs1768353
rs1768353
Entrez Id: 5796
Gene Symbol: PTPRK
PTPRK
CUI: C0410702
Disease:
Adolescent idiopathic scoliosis
0.700 GeneticVariation GWASCAT The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease. 30019117 2018
dbSNP: rs35469349
rs35469349
Entrez Id: 5796
Gene Symbol: PTPRK
PTPRK
CUI: C1527304
Disease:
Allergic Reaction
A 0.700 GeneticVariation GWASCAT Shared genetic origin of asthma, hay fever and eczema elucidates allergic disease biology. 29083406 2017
dbSNP: rs550320694
rs550320694
Entrez Id: 5796
Gene Symbol: PTPRK
PTPRK
CUI: C0455829
Disease:
Waist Circumference
T 0.700 GeneticVariation GWASCAT Whole-Genome Sequencing Coupled to Imputation Discovers Genetic Signals for Anthropometric Traits. 28552196 2017
dbSNP: rs6938574
rs6938574
Entrez Id: 5796;101928140
Gene Symbol: PTPRK;LOC101928140
PTPRK;LOC101928140
CUI: C1314691
Disease:
Age at menarche
T 0.700 GeneticVariation GWASCAT Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche. 25231870 2014
dbSNP: rs1012049
rs1012049
Entrez Id: 5796
Gene Symbol: PTPRK
PTPRK
CUI: C1306459
Disease:
Primary malignant neoplasm
0.010 GeneticVariation BEFREE One additional sample showed that four SNPs were associated with risk of cancer (top SNP rs1339197 with p = 4.1 × 10<sup>-3</sup>), 12 SNPs associated with LDL-cholesterol (top SNP rs4544930 with p = 3.47 × 10<sup>-3</sup>), and eight SNPs associated with total cholesterol (top SNP rs1012049 with p = 6.09 × 10<sup>-3</sup>). 28987514 2018
dbSNP: rs1012049
rs1012049
Entrez Id: 5796
Gene Symbol: PTPRK
PTPRK
CUI: C0006826
Disease:
Malignant Neoplasms
0.010 GeneticVariation BEFREE One additional sample showed that four SNPs were associated with risk of cancer (top SNP rs1339197 with p = 4.1 × 10<sup>-3</sup>), 12 SNPs associated with LDL-cholesterol (top SNP rs4544930 with p = 3.47 × 10<sup>-3</sup>), and eight SNPs associated with total cholesterol (top SNP rs1012049 with p = 6.09 × 10<sup>-3</sup>). 28987514 2018
dbSNP: rs1339197
rs1339197
Entrez Id: 5796
Gene Symbol: PTPRK
PTPRK
CUI: C0006826
Disease:
Malignant Neoplasms
0.010 GeneticVariation BEFREE One additional sample showed that four SNPs were associated with risk of cancer (top SNP rs1339197 with p = 4.1 × 10<sup>-3</sup>), 12 SNPs associated with LDL-cholesterol (top SNP rs4544930 with p = 3.47 × 10<sup>-3</sup>), and eight SNPs associated with total cholesterol (top SNP rs1012049 with p = 6.09 × 10<sup>-3</sup>). 28987514 2018
dbSNP: rs1339197
rs1339197
Entrez Id: 5796
Gene Symbol: PTPRK
PTPRK
CUI: C1306459
Disease:
Primary malignant neoplasm
0.010 GeneticVariation BEFREE One additional sample showed that four SNPs were associated with risk of cancer (top SNP rs1339197 with p = 4.1 × 10<sup>-3</sup>), 12 SNPs associated with LDL-cholesterol (top SNP rs4544930 with p = 3.47 × 10<sup>-3</sup>), and eight SNPs associated with total cholesterol (top SNP rs1012049 with p = 6.09 × 10<sup>-3</sup>). 28987514 2018
dbSNP: rs4544930
rs4544930
Entrez Id: 5796;101928140
Gene Symbol: PTPRK;LOC101928140
PTPRK;LOC101928140
CUI: C0006826
Disease:
Malignant Neoplasms
0.010 GeneticVariation BEFREE One additional sample showed that four SNPs were associated with risk of cancer (top SNP rs1339197 with p = 4.1 × 10<sup>-3</sup>), 12 SNPs associated with LDL-cholesterol (top SNP rs4544930 with p = 3.47 × 10<sup>-3</sup>), and eight SNPs associated with total cholesterol (top SNP rs1012049 with p = 6.09 × 10<sup>-3</sup>). 28987514 2018
dbSNP: rs4544930
rs4544930
Entrez Id: 5796;101928140
Gene Symbol: PTPRK;LOC101928140
PTPRK;LOC101928140
CUI: C1306459
Disease:
Primary malignant neoplasm
0.010 GeneticVariation BEFREE One additional sample showed that four SNPs were associated with risk of cancer (top SNP rs1339197 with p = 4.1 × 10<sup>-3</sup>), 12 SNPs associated with LDL-cholesterol (top SNP rs4544930 with p = 3.47 × 10<sup>-3</sup>), and eight SNPs associated with total cholesterol (top SNP rs1012049 with p = 6.09 × 10<sup>-3</sup>). 28987514 2018
dbSNP: rs72975913
rs72975913
Entrez Id: 5796
Gene Symbol: PTPRK
PTPRK
CUI: C0011854
Disease:
Diabetes Mellitus, Insulin-Dependent
0.010 GeneticVariation BEFREE Although these SNPs were not associated with type 1 diabetes overall (p > 0.001), the SNP most associated with AAD, rs72975913, was associated with susceptibility to type 1 diabetes in those individuals diagnosed at less than 5 years old (p = 2.3 × 10<sup>-9</sup>). 28983737 2018
dbSNP: rs72975916
rs72975916
Entrez Id: 5796
Gene Symbol: PTPRK
PTPRK
CUI: C0007570
Disease:
Celiac Disease
0.010 GeneticVariation BEFREE The aim of this work was to evaluate the expression levels of these two genes in duodenal mucosa of active and treated CD patients and in controls, and to determine whether SNPs (rs802734, rs55743914, rs72975916, rs10484718 and rs9491896) associated with CD have any influence on gene expression. 23820479 2014
dbSNP: rs9491896
rs9491896
Entrez Id: 5796
Gene Symbol: PTPRK
PTPRK
CUI: C0007570
Disease:
Celiac Disease
0.010 GeneticVariation BEFREE The aim of this work was to evaluate the expression levels of these two genes in duodenal mucosa of active and treated CD patients and in controls, and to determine whether SNPs (rs802734, rs55743914, rs72975916, rs10484718 and rs9491896) associated with CD have any influence on gene expression. 23820479 2014