Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0041696
Disease: Unipolar Depression
Unipolar Depression 		0.320 Biomarker disease BEFREE Polymorphism of ERK/PTPRR Genes in Major Depressive Disorder at Resting-State Brain Function. 28467119 2017
CUI: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder 		0.320 Biomarker disease BEFREE Polymorphism of ERK/PTPRR Genes in Major Depressive Disorder at Resting-State Brain Function. 28467119 2017
CUI: C0041696
Disease: Unipolar Depression
Unipolar Depression 		0.320 Biomarker disease PSYGENET Gender-specific role of the protein tyrosine phosphatase receptor type R gene in major depressive disorder. 22100128 2012
CUI: C0041696
Disease: Unipolar Depression
Unipolar Depression 		0.320 PosttranslationalModification disease BEFREE Gender-specific role of the protein tyrosine phosphatase receptor type R gene in major depressive disorder. 22100128 2012
CUI: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder 		0.320 Biomarker disease PSYGENET We genotyped 16 SNPs in the PTPRR locus with the MALDI-TOF-MS-based genotyping protocol in 517 patients with MDD and 455 controls among a Chinese Han population. 22100128 2012
CUI: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder 		0.320 GeneticVariation disease BEFREE We genotyped 16 SNPs in the PTPRR locus with the MALDI-TOF-MS-based genotyping protocol in 517 patients with MDD and 455 controls among a Chinese Han population. 22100128 2012
CUI: C0005890
Disease: Body Height
Body Height 		0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C0042133
Disease: Uterine Fibroids
Uterine Fibroids 		0.100 GeneticVariation group GWASCAT Genome-wide association and epidemiological analyses reveal common genetic origins between uterine leiomyomata and endometriosis. 31649266 2019
CUI: C2242776
Disease: Plexiform leiomyoma
Plexiform leiomyoma 		0.100 GeneticVariation disease GWASCAT Genome-wide association and epidemiological analyses reveal common genetic origins between uterine leiomyomata and endometriosis. 31649266 2019
CUI: C0040420
Disease: Tonometry
Tonometry 		0.100 GeneticVariation phenotype GWASCAT Genome-wide analyses identify 68 new loci associated with intraocular pressure and improve risk prediction for primary open-angle glaucoma. 29785010 2018
CUI: C2076600
Disease: Influenza due to Influenza A virus subtype H1N1
Influenza due to Influenza A virus subtype H1N1 		0.100 GeneticVariation disease GWASCAT No Major Host Genetic Risk Factor Contributed to A(H1N1)2009 Influenza Severity. 26379185 2015
CUI: C0034951
Disease: Refractive Errors
Refractive Errors 		0.100 GeneticVariation group GWASDB Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia. 23396134 2013
CUI: C4025843
Disease: Abnormality of refraction
Abnormality of refraction 		0.100 GeneticVariation disease GWASCAT Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia. 23396134 2013
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		0.010 Biomarker disease BEFREE Taken together, These data support the idea that PTPRR may ensure a certain number of neural precursor cells by inhibiting ENCC overt differentiation and maintaining ENCC proliferation, which is considered to be the multipotency of ENCCs, and eventually participate in the development of the ENS, and establish PTPRR protein as negative regulator of MAPK/ERK1/2 signaling cascades in neuronal differentiation and demonstrate their involvement in the pathophysiology of HSCR. 31024255 2019
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		0.010 GeneticVariation disease BEFREE Using a whole genome sequencing (WGS) approach, we identified somatic coding and noncoding variants that may contribute to leukemogenesis in 11 adult Korean acute myeloid leukemia (AML) patients, with serial tumor samples (primary and relapse) available for 5 of them; somatic variants were identified in 187 AML-related genes, including both novel (SIN3A, C10orf53, PTPRR, and RERGL) and well-known (NPM1, RUNX1, and CEPBA) AML-related genes. 29764005 2018
CUI: C0598766
Disease: Leukemogenesis
Leukemogenesis 		0.010 GeneticVariation disease BEFREE Using a whole genome sequencing (WGS) approach, we identified somatic coding and noncoding variants that may contribute to leukemogenesis in 11 adult Korean acute myeloid leukemia (AML) patients, with serial tumor samples (primary and relapse) available for 5 of them; somatic variants were identified in 187 AML-related genes, including both novel (SIN3A, C10orf53, PTPRR, and RERGL) and well-known (NPM1, RUNX1, and CEPBA) AML-related genes. 29764005 2018
CUI: C0015672
Disease: Fatigue
Fatigue 		0.010 Biomarker phenotype BEFREE Both EFEMP1 and PTPRR genes were also related to possible endophenotypes for suicidal behaviour such as anger, depression-anxiety and fatigue. 28327445 2017
CUI: C0153381
Disease: Malignant neoplasm of mouth
Malignant neoplasm of mouth 		0.010 Biomarker group BEFREE This study investigated whether the methylation of ZNF582, PAX1, SOX1, NKX6.1, and PTPRR genes in oral scrapings could be used to detect oral dysplasia and oral cancer and to predict oral cancer recurrence. 27865370 2016
CUI: C0220641
Disease: Lip and Oral Cavity Carcinoma
Lip and Oral Cavity Carcinoma 		0.010 Biomarker disease BEFREE This study investigated whether the methylation of ZNF582, PAX1, SOX1, NKX6.1, and PTPRR genes in oral scrapings could be used to detect oral dysplasia and oral cancer and to predict oral cancer recurrence. 27865370 2016
CUI: C1739135
Disease: Progression of prostate cancer
Progression of prostate cancer 		0.010 Biomarker disease BEFREE Our data suggest that loss of PTPRR in clinical PCa is one factor that might contribute to activation of the RAS/ERK1/2 pathway. 25592066 2015
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.010 Biomarker disease BEFREE These results are not in line with recently published data, showing that genetic coding for PTPRR and PTPRZ1 were hypermethylated in CRC's. 24242166 2014
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		0.010 Biomarker phenotype BEFREE Methylation of the PTPRR promoter has an important role in the metastasis and may be a biomarker of invasive cervical cancer. 22330137 2013
CUI: C0271183
Disease: Severe myopia
Severe myopia 		0.010 GeneticVariation disease BEFREE Several genetic markers were nominally significantly associated with high-grade myopia in qualitative testing, including rs3803036, a missense mutation in PTPRR (P = 9.1 × 10(-4)) and rs4764971, an intronic SNP in UHRF1BP1L (P = 6.1 × 10(-4)). 23422819 2013
CUI: C1334177
Disease: Infiltrating Cervical Carcinoma
Infiltrating Cervical Carcinoma 		0.010 Biomarker disease BEFREE Methylation of the PTPRR promoter has an important role in the metastasis and may be a biomarker of invasive cervical cancer. 22330137 2013