ERG, ETS transcription factor ERG, 2078

N. diseases: 298; N. variants: 31
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0553580
Disease: Ewings sarcoma
Ewings sarcoma 		0.400 FusionGene disease ORPHANET
CUI: C0157946
Disease: Osteoarthrosis, localized, not specified whether primary or secondary
Osteoarthrosis, localized, not specified whether primary or secondary 		0.200 Biomarker disease MGD
CUI: C0751383
Disease: Juvenile Neuronal Ceroid Lipofuscinosis
Juvenile Neuronal Ceroid Lipofuscinosis 		0.030 Biomarker disease BEFREE The decreased ERG responses are discussed with reference to the known retinal abnormalities in both generalized oculocutaneous albinism and Batten's disease, another ceroid-lipofuscin storage disorder. 7298260 1981
CUI: C0078918
Disease: Albinism, Oculocutaneous
Albinism, Oculocutaneous 		0.010 Biomarker disease BEFREE The decreased ERG responses are discussed with reference to the known retinal abnormalities in both generalized oculocutaneous albinism and Batten's disease, another ceroid-lipofuscin storage disorder. 7298260 1981
CUI: C4048273
Disease: Chorioretinal atrophy
Chorioretinal atrophy 		0.010 Biomarker disease BEFREE One patient with the poorest control of plasma ornithine has developed a decrease in ERG amplitudes and a new area of chorioretinal atrophy. 7254777 1981
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.100 Biomarker disease BEFREE Autosomal dominant pigmentary retinopathy can rather often be differentiated from autosomal or sex-linked recessive pigmentary retinopathy by the fact that there is still an ERG response and more particularly a cone response and that its progressive deterioration is observed, while in autosomal or sex-linked recessive pigmentary retinopathy the ERG is mostly extinguished. 6700949 1984
CUI: C4551715
Disease: Pigmentary retinopathy
Pigmentary retinopathy 		0.010 Biomarker disease BEFREE Autosomal dominant pigmentary retinopathy can rather often be differentiated from autosomal or sex-linked recessive pigmentary retinopathy by the fact that there is still an ERG response and more particularly a cone response and that its progressive deterioration is observed, while in autosomal or sex-linked recessive pigmentary retinopathy the ERG is mostly extinguished. 6700949 1984
CUI: C0155017
Disease: Color Blindness, Blue
Color Blindness, Blue 		0.010 Biomarker disease BEFREE We believe that congenital tritanopia and DIJOA are distinct disease entities and that the blue cone ERG is a key factor in the differential diagnosis. 3876823 1985
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.100 Biomarker disease BEFREE Intensity-response functions suggest that children with retinitis pigmentosa have reductions in the number of functioning rods and that surviving rods generating the ERG have reduced sensitivity. 3772690 1986
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		0.400 GeneticVariation disease BEFREE The localization of the erg gene to chromosome 21q22 raises the possibility that this gene may be involved in the pathogenesis of AML-M2. 3274086 1988
CUI: C0036202
Disease: Sarcoidosis
Sarcoidosis 		0.010 Biomarker disease BEFREE Northern analysis using a 32P-labeled cDNA probe for the IL 2R p55 protein demonstrated that blood T cells of patients with active sarcoidosis, but not of normal patients, express 3.5- and 1.5-kb IL 2R mRNA transcripts, the same as those observed in normal T cells activated in vitro. 3138285 1988
CUI: C1961102
Disease: Precursor Cell Lymphoblastic Leukemia Lymphoma
Precursor Cell Lymphoblastic Leukemia Lymphoma 		0.400 AlteredExpression disease BEFREE The pre-B Reh-6 leukemic cells do not express membrane interleukin-2 (IL-2)-R alpha (Tac or p55) chain; however, their incubation with PMA induces the expression of both high and low affinity IL-2-R. Northern analysis of nonstimulated Reh-6 as well as leukemic cells from patients with acute B cell precursor lymphoblastic leukemia displayed a constitutive expression of p55 mRNA transcripts, which could be enhanced by PMA. 2243505 1990
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia 		0.100 AlteredExpression disease BEFREE The pre-B Reh-6 leukemic cells do not express membrane interleukin-2 (IL-2)-R alpha (Tac or p55) chain; however, their incubation with PMA induces the expression of both high and low affinity IL-2-R. Northern analysis of nonstimulated Reh-6 as well as leukemic cells from patients with acute B cell precursor lymphoblastic leukemia displayed a constitutive expression of p55 mRNA transcripts, which could be enhanced by PMA. 2243505 1990
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.100 Biomarker disease BEFREE Full-field ERG appears to be a valuable tool for studying X-chromosome linked retinitis pigmentosa families, when necessary supported with computer averaging and a narrow bandpass filter. 2356700 1990
CUI: C1522378
Disease: Leukemia, Large Granular Lymphocytic
Leukemia, Large Granular Lymphocytic 		0.020 Biomarker disease BEFREE The cell membrane expression and functional role of the interleukin-2 receptor (IL-2R) was analyzed in nine patients with lymphoproliferative disease of granular lymphocytes (LDGL) using monoclonal antibodies (MoAbs) specific for the p75 (TU27) and the p55 (anti-Tac) subunits of IL-2R. 2146981 1990
CUI: C0019829
Disease: Hodgkin Disease
Hodgkin Disease 		0.010 Biomarker disease BEFREE A similar pattern (Tac positivity and p75 negativity) was noted in H-RS cells in lymph nodes involved by Hodgkin's disease. 1691591 1990
CUI: C1522378
Disease: Leukemia, Large Granular Lymphocytic
Leukemia, Large Granular Lymphocytic 		0.020 Biomarker disease BEFREE To investigate the role of p55 and p75 chains of interleukin-2 receptor (IL-2R) on the activation of granular lymphocytes (GL) in patients with lymphoproliferative disease of granular lymphocytes (LDGL), the cells obtained from 11 LDGL patients (belonging to the CD3+ group) were studied for (a) the surface expression and (b) mRNA transcripts of the p55 and p75 IL-2R after activation with anti-CD3 monoclonal antibody (mAb) or interleukin-2 (IL-2). 1835747 1991
CUI: C0015398
Disease: Eye Diseases, Hereditary
Eye Diseases, Hereditary 		0.010 Biomarker group BEFREE The clinical and ERG findings of this study suggest that the 5 subjects of our family do not represent AIED but another X-linked hereditary eye disease. 1789083 1991
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		0.030 AlteredExpression disease BEFREE In addition, Northern blot analysis indicated abundant expression of both p55 and p75 mRNA in RA synovial joint MNC. 1320571 1992
CUI: C0024140
Disease: Lupus Erythematosus, Subacute Cutaneous
Lupus Erythematosus, Subacute Cutaneous 		0.010 Biomarker disease BEFREE Antibodies to retroviral proteins (ARP), most frequently to HIV Gag proteins p55 and p24, were found in 64% of 22 patients with systemic lupus erythematosus (SLE), in 63% of 8 patients with discoid LE (DLE), in 75% of 8 patients with mixed connective tissue disease (MCTD), and in 26% of 19 individuals with chronic biologically false-positive (CBFP) seroreactions, but not in 8 patients with subacute cutaneous lupus erythematosus. 1472125 1992
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		0.010 Biomarker disease BEFREE Antibodies to retroviral proteins (ARP), most frequently to HIV Gag proteins p55 and p24, were found in 64% of 22 patients with systemic lupus erythematosus (SLE), in 63% of 8 patients with discoid LE (DLE), in 75% of 8 patients with mixed connective tissue disease (MCTD), and in 26% of 19 individuals with chronic biologically false-positive (CBFP) seroreactions, but not in 8 patients with subacute cutaneous lupus erythematosus. 1472125 1992
CUI: C0026272
Disease: Mixed Connective Tissue Disease
Mixed Connective Tissue Disease 		0.010 Biomarker disease BEFREE Antibodies to retroviral proteins (ARP), most frequently to HIV Gag proteins p55 and p24, were found in 64% of 22 patients with systemic lupus erythematosus (SLE), in 63% of 8 patients with discoid LE (DLE), in 75% of 8 patients with mixed connective tissue disease (MCTD), and in 26% of 19 individuals with chronic biologically false-positive (CBFP) seroreactions, but not in 8 patients with subacute cutaneous lupus erythematosus. 1472125 1992
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis 		0.010 AlteredExpression disease BEFREE In contrast to RA synovial MNC, p75 or p55 TNF-R expression was not significantly increased in osteoarthritis synovial MNC. 1320571 1992
CUI: C0339537
Disease: Cone monochromatism
Cone monochromatism 		0.010 Biomarker disease BEFREE Two of the three affected family members, 9- and 7-year-old brothers, showed the unique features of BCM in their color vision and ERG. 1513061 1992
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		0.400 AlteredExpression disease BEFREE In the present study, we have investigated the leukemic cells obtained from 16 patients with acute myeloid leukemia (AML) at diagnosis for the membrane expression of p55 (alpha) and p75 (beta) interleukin-2 receptor (IL-2R) chains using specific monoclonal antibodies (mAbs), as well as for the presence of their transcripts using Northern blot analysis. 8445947 1993