Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		0.310 Biomarker disease CTD_human Identification of genes potentially involved in the acquisition of androgen-independent and metastatic tumor growth in an autochthonous genetically engineered mouse prostate cancer model. 17013881 2007
CUI: C0025202
Disease: melanoma
melanoma 		0.300 Biomarker disease CTD_human Aggressiveness of human melanoma xenograft models is promoted by aneuploidy-driven gene expression deregulation. 22535842 2012
CUI: C0025202
Disease: melanoma
melanoma 		0.300 Biomarker disease CTD_human Exome sequencing identifies recurrent somatic RAC1 mutations in melanoma. 22842228 2012
CUI: C0033578
Disease: Prostatic Neoplasms
Prostatic Neoplasms 		0.300 Biomarker group CTD_human Identification of genes potentially involved in the acquisition of androgen-independent and metastatic tumor growth in an autochthonous genetically engineered mouse prostate cancer model. 17013881 2007
CUI: C0004096
Disease: Asthma
Asthma 		0.100 GeneticVariation disease GWASCAT Genetic Architectures of Childhood- and Adult-Onset Asthma Are Partly Distinct. 30929738 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: C0013595
Disease: Eczema
Eczema 		0.100 GeneticVariation disease GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C0264408
Disease: Childhood asthma
Childhood asthma 		0.100 GeneticVariation disease GWASCAT Genetic Architectures of Childhood- and Adult-Onset Asthma Are Partly Distinct. 30929738 2019
CUI: C1314691
Disease: Age at menarche
Age at menarche 		0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C0014548
Disease: Epilepsy, Generalized
Epilepsy, Generalized 		0.100 GeneticVariation disease GWASCAT Genome-wide mega-analysis identifies 16 loci and highlights diverse biological mechanisms in the common epilepsies. 30531953 2018
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
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
CUI: C0596887
Disease: mathematical ability
mathematical ability 		0.100 GeneticVariation phenotype GWASCAT Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals. 30038396 2018
CUI: C0678909
Disease: Brain Waves
Brain Waves 		0.100 GeneticVariation phenotype GWASCAT Genome-wide association analysis links multiple psychiatric liability genes to oscillatory brain activity. 29947131 2018
CUI: C1837461
Disease: SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3
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: 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: 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: C1314691
Disease: Age at menarche
Age at menarche 		0.100 GeneticVariation phenotype GWASCAT Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche. 25231870 2014
CUI: C0007570
Disease: Celiac Disease
Celiac Disease 		0.100 GeneticVariation disease GWASCAT Dense genotyping identifies and localizes multiple common and rare variant association signals in celiac disease. 22057235 2011
CUI: C0007570
Disease: Celiac Disease
Celiac Disease 		0.100 GeneticVariation disease GWASDB Dense genotyping identifies and localizes multiple common and rare variant association signals in celiac disease. 22057235 2011
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: 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: C0027651
Disease: Neoplasms
Neoplasms 		0.060 Biomarker group BEFREE Our data show that PTPRK influences transactivating activity of beta-catenin in non-tumoral and neoplastic cells by regulating the balance between signaling and adhesive beta-catenin, thus providing biochemical basis for the hypothesis of PTPRK as a tumor suppressor gene. 18276111 2008
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