Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary 		0.020 Biomarker disease BEFREE These observations suggest that the PTPN6 gene is potentially of etiologic relevance to a majority of ovarian cancers. 7774833 1995
CUI: C4721610
Disease: Carcinoma, Ovarian Epithelial
Carcinoma, Ovarian Epithelial 		0.020 Biomarker disease BEFREE Using Northern blot and immunoblotting analysis, we showed that both the PTPN6 transcripts and proteins were overexpressed two- to four-fold in 7 of the 8 ovarian epithelial carcinoma cell lines studied. 7774833 1995
CUI: C0677886
Disease: Epithelial ovarian cancer
Epithelial ovarian cancer 		0.010 Biomarker disease BEFREE Overexpression of the protein tyrosine phosphatase, nonreceptor type 6 (PTPN6), in human epithelial ovarian cancer. 7774833 1995
CUI: C0032463
Disease: Polycythemia Vera
Polycythemia Vera 		0.030 GeneticVariation disease BEFREE We have therefore searched for mutations of the SHP-1 gene in genomic DNA from patients with PV. 9121771 1997
CUI: C0032463
Disease: Polycythemia Vera
Polycythemia Vera 		0.030 Biomarker disease BEFREE Finally, Western blot analysis revealed a normal HCP protein content in PV granulocytes and platelets. 9414643 1997
CUI: C0006413
Disease: Burkitt Lymphoma
Burkitt Lymphoma 		0.020 Biomarker disease BEFREE The possibility that this diminished expression of SHP-1 was related to the germinal center phenotype of Burkitt lymphomas was supported by the low to absent immunofluorescent staining for SHP-1 in germinal centers, and by the inverse relationship between the concentration of SHP-1 and the expression of the germinal center marker CD38 on purified tonsillar B cells. 9348315 1997
CUI: C0272199
Disease: Familial Hemophagocytic Lymphocytosis
Familial Hemophagocytic Lymphocytosis 		0.010 Biomarker phenotype BEFREE These data demonstrate that the SHP-1 gene is intact in FHLH and that the defect in some cases with this disease may involve signaling molecules regulated by SHP-1. 9519782 1998
CUI: C0032463
Disease: Polycythemia Vera
Polycythemia Vera 		0.030 AlteredExpression disease BEFREE These results indicate an important role for SHP-1 in the regulation of normal human erythroid progenitors and suggest that defective expression of the protein may contribute to the pathogenesis of polycythemia vera. 10390187 1999
CUI: C0340970
Disease: Congenital neutropenia
Congenital neutropenia 		0.010 Biomarker disease BEFREE Expression of the SH2 domain-containing tyrosine phosphatases SHP-1 and SHP-2 was analyzed in myeloid cells from patients with SCN in comparison to healthy donors. 10378893 1999
CUI: C0349639
Disease: Juvenile Myelomonocytic Leukemia
Juvenile Myelomonocytic Leukemia 		0.010 AlteredExpression disease BEFREE There was no difference in the expression of the amplified HCP cDNA regions in MNC of JMML patients compared to normal donors. 10609786 1999
CUI: C1853118
Disease: Severe congenital neutropenia
Severe congenital neutropenia 		0.010 Biomarker phenotype BEFREE Expression of the SH2 domain-containing tyrosine phosphatases SHP-1 and SHP-2 was analyzed in myeloid cells from patients with SCN in comparison to healthy donors. 10378893 1999
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		0.090 Biomarker disease BEFREE RNA hyperediting and alternative splicing of hematopoietic cell phosphatase (PTPN6) gene in acute myeloid leukemia. 11001933 2000
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.070 AlteredExpression disease BEFREE Differential expression of SHP-1 mRNA was observed among the 19 breast cancer cell lines examined, and in an analysis of 72 primary breast cancers, SHP-1 mRNA expression was increased 2- to 12-fold relative to normal breast epithelial cells in 58% of the samples. 11054664 2000
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.070 AlteredExpression disease BEFREE Differential expression of SHP-1 mRNA was observed among the 19 breast cancer cell lines examined, and in an analysis of 72 primary breast cancers, SHP-1 mRNA expression was increased 2- to 12-fold relative to normal breast epithelial cells in 58% of the samples. 11054664 2000
CUI: C0079772
Disease: T-Cell Lymphoma
T-Cell Lymphoma 		0.020 AlteredExpression disease BEFREE All T-cell lymphoma lines tested (eight of eight) expressed diminished amounts or no detectable SHP-1 mRNA. 11021818 2000
CUI: C0598766
Disease: Leukemogenesis
Leukemogenesis 		0.020 Biomarker disease BEFREE The level of the aberrant intron-retaining splice variant, evaluated by semi-quantitative RT-PCR, was lower in CD117(+)-AML bone marrow mononuclear cells at remission than at diagnosis, suggesting the involvement of post-transcriptional PTPN6 processing in leukemogenesis. 11001933 2000
CUI: C0024299
Disease: Lymphoma
Lymphoma 		0.050 AlteredExpression group BEFREE This evidence strongly suggests that loss of SHP1 gene expression plays an important role in multistep tumorigenesis, possibly as an anti-oncogene in the wide range of lymphomas/leukemias as well as NK/T lymphomas. 11583976 2001
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.050 PosttranslationalModification phenotype BEFREE This evidence strongly suggests that loss of SHP1 gene expression plays an important role in multistep tumorigenesis, possibly as an anti-oncogene in the wide range of lymphomas/leukemias as well as NK/T lymphomas. 11583976 2001
CUI: C1332206
Disease: Adult Lymphoma
Adult Lymphoma 		0.040 PosttranslationalModification disease BEFREE SHP1 expression could not be induced in either of two NK/T cell lines by phorbol ester, suggesting that genetic impairment or modification with methylation of SHP1 DNA could be one of the critical events in the pathogenesis of NK/T lymphoma. 11583976 2001
CUI: C1332979
Disease: Childhood Lymphoma
Childhood Lymphoma 		0.040 PosttranslationalModification disease BEFREE SHP1 expression could not be induced in either of two NK/T cell lines by phorbol ester, suggesting that genetic impairment or modification with methylation of SHP1 DNA could be one of the critical events in the pathogenesis of NK/T lymphoma. 11583976 2001
CUI: C0020459
Disease: Hyperinsulinism
Hyperinsulinism 		0.020 Biomarker disease BEFREE Inhibition of JAK-2 phosphorylation might occur through SHP-1-dependent pathways, indicating that hyperinsulinaemia contributes to the pathogenesis of leptin resistance. 11596667 2001
CUI: C0221269
Disease: Pseudolymphoma
Pseudolymphoma 		0.010 AlteredExpression disease BEFREE On the other hand, SHP1 protein was strongly expressed in the mantle zone and interfollicular zone lymphocytes in reactive lymphoid hyperplasia specimens. 11583976 2001
CUI: C1608408
Disease: Malignant transformation
Malignant transformation 		0.010 AlteredExpression phenotype BEFREE In addition, various kinds of hematopoietic cell lines, particularly the highly aggressive lymphoma/leukemia lines, lacked SHP1 expression in vitro, suggesting that loss of SHP1 expression may be related to not only malignant transformation, but also tumor cell aggressiveness. 11583976 2001
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.100 Biomarker group BEFREE SHP-1 is a key tyrosine phosphatase that acts as a negative regulator of signal transduction in lymphocytes, which has been found down-regulated in several T cell lines derived from human T cell malignancies. 12145687 2002
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		0.070 GeneticVariation group BEFREE Because mutations in human SHP1 underlie obesity and diabetes, SHP1 is a candidate gene for human lipodystrophy syndromes. 12181644 2002