Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0455829
Disease: Waist Circumference
Waist Circumference
0.100 GeneticVariation phenotype GWASCAT Whole-Genome Sequencing Coupled to Imputation Discovers Genetic Signals for Anthropometric Traits. 28552196 2017
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
0.010 Biomarker disease BEFREE We describe that the transmembrane receptor PTPκ (RPTPκ), encoded by the transforming growth factor (TGF) β-target gene, PTPRK, promotes RA FLS invasiveness. 25378349 2016
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.020 Biomarker disease BEFREE Two CRCs contained EIF3E-RSPO2 fusion transcripts, and another CRC contained PTPRK-RSPO3 fusion transcripts. 24847761 2014
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.060 Biomarker group BEFREE Thus, identifying PTPRK substrates provides insight into its downstream signaling and a potential molecular explanation for its proposed tumor suppressor function. 30924770 2019
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.040 GeneticVariation group BEFREE The present study is the first study providing evidence of several genetic variants within the PTPRK gene associated with the risk and AAO of AD, risk of cancer, LDL and total cholesterol levels. 28987514 2018
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
0.040 GeneticVariation group BEFREE The present study is the first study providing evidence of several genetic variants within the PTPRK gene associated with the risk and AAO of AD, risk of cancer, LDL and total cholesterol levels. 28987514 2018
Colorectal Traditional Serrated Adenoma
0.020 AlteredExpression disease BEFREE The present study identified RSPO fusion transcripts, including three novel transcripts, in one-third of colorectal TSAs and showed that PTPRK-RSPO3 fusions were the predominant cause of RSPO overexpression in colorectal TSA. 28543708 2017
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate
0.310 AlteredExpression disease BEFREE The expression of the PTPRK protein and transcript in prostate cancer was examined using IHC and PCR. 24002526 2013
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma
0.010 AlteredExpression disease BEFREE The expression of the PTPRK protein and transcript in prostate cancer was examined using IHC and PCR. 24002526 2013
CUI: C0410702
Disease: Adolescent idiopathic scoliosis
Adolescent idiopathic scoliosis
0.100 GeneticVariation disease 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
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3
0.100 GeneticVariation disease 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
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.060 Biomarker group BEFREE TGF-beta up-regulated PTPRK mRNA and RPTPkappa (receptor type protein tyrosine phosphatase kappa, the protein product encoded by the PTPRK gene) protein in tumor and nontumor mammary cells; HER2 overexpression down-regulated its expression. 15899872 2005
CUI: C0021704
Disease: Intelligence
Intelligence
0.100 GeneticVariation phenotype GWASCAT Study of 300,486 individuals identifies 148 independent genetic loci influencing general cognitive function. 29844566 2018
Squamous cell carcinoma of the head and neck
0.010 GeneticVariation disease BEFREE Significantly, the practicability of AlloDriver to discover novel cancer driver proteins in head and neck squamous cell carcinoma (HNSC) was tested in a real case of human protein tyrosine phosphatase, receptor type K (PTPRK) through a L1143F driver mutation located at the allosteric site of PTPRK, which was experimentally validated by cell proliferation assay. 31069394 2019
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.040 GeneticVariation group BEFREE Significantly, the practicability of AlloDriver to discover novel cancer driver proteins in head and neck squamous cell carcinoma (HNSC) was tested in a real case of human protein tyrosine phosphatase, receptor type K (PTPRK) through a L1143F driver mutation located at the allosteric site of PTPRK, which was experimentally validated by cell proliferation assay. 31069394 2019
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
0.040 GeneticVariation group BEFREE Significantly, the practicability of AlloDriver to discover novel cancer driver proteins in head and neck squamous cell carcinoma (HNSC) was tested in a real case of human protein tyrosine phosphatase, receptor type K (PTPRK) through a L1143F driver mutation located at the allosteric site of PTPRK, which was experimentally validated by cell proliferation assay. 31069394 2019
CUI: C0004096
Disease: Asthma
Asthma
0.100 GeneticVariation disease GWASCAT Shared genetics of asthma and mental health disorders: a large-scale genome-wide cross-trait analysis. 31619474 2019
CUI: C1527304
Disease: Allergic Reaction
Allergic Reaction
0.100 GeneticVariation phenotype GWASCAT Shared genetic origin of asthma, hay fever and eczema elucidates allergic disease biology. 29083406 2017
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.060 GeneticVariation group BEFREE Several genetic changes including BCL6 rearrangements and deletion of 6q22, containing the putative tumor suppressor gene PTPRK, are potential risk predictors. 18645192 2008
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.060 AlteredExpression group BEFREE Reverse transcription-PCR analysis of the mRNA from 4 cases with 6q deletions confirmed loss of this gene, and loss of PTPRK expression was observed in 76% (22 of 29) of tumors with immunohistochemistry. 12591717 2003
CUI: C1266025
Disease: Traditional Serrated Adenoma
Traditional Serrated Adenoma
0.020 AlteredExpression disease BEFREE Reverse transcription PCR identified previously reported PTPRK-RSPO3 fusion transcripts in all 29 TSAs with RSPO3 overexpression, confirming that PTPRK-RSPO3 is the predominant RSPO fusion in TSAs. 30916365 2019
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion
0.020 Biomarker phenotype BEFREE Restoration of PTPRK inhibited tumor cell growth and reduced the migration and invasion ability of NKTCL cells. 25612622 2015
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.060 Biomarker group BEFREE Restoration of PTPRK inhibited tumor cell growth and reduced the migration and invasion ability of NKTCL cells. 25612622 2015
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.020 Biomarker disease BEFREE Recurrent, gain-of-expression gene fusions of RSPO2 (to EIF3E) and RSPO3 (to PTPRK) occur in a subset of human colorectal cancer. 25531322 2015
Malignant neoplasm of colon and/or rectum
0.010 Biomarker disease BEFREE Recurrent, gain-of-expression gene fusions of RSPO2 (to EIF3E) and RSPO3 (to PTPRK) occur in a subset of human colorectal cancer. 25531322 2015