ESR2, estrogen receptor 2, 2100

N. diseases: 528; N. variants: 56
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0029456
Disease: Osteoporosis
Osteoporosis 		0.400 Biomarker disease HPO
CUI: C0232939
Disease: Primary physiologic amenorrhea
Primary physiologic amenorrhea 		0.100 Biomarker disease HPO
CUI: C0566899
Disease: Small labia majora
Small labia majora 		0.100 Biomarker phenotype HPO
CUI: C2751805
Disease: EMERY-DREIFUSS MUSCULAR DYSTROPHY 5, AUTOSOMAL DOMINANT
EMERY-DREIFUSS MUSCULAR DYSTROPHY 5, AUTOSOMAL DOMINANT 		0.100 GeneticVariation disease CLINVAR
CUI: C2751805
Disease: EMERY-DREIFUSS MUSCULAR DYSTROPHY 5, AUTOSOMAL DOMINANT
EMERY-DREIFUSS MUSCULAR DYSTROPHY 5, AUTOSOMAL DOMINANT 		0.100 CausalMutation disease CLINVAR
CUI: C4021550
Disease: Elevated circulating follicle stimulating hormone level
Elevated circulating follicle stimulating hormone level 		0.100 Biomarker phenotype HPO
CUI: C4023101
Disease: Elevated circulating luteinizing hormone level
Elevated circulating luteinizing hormone level 		0.100 Biomarker phenotype HPO
CUI: C4025569
Disease: Eunuchoid habitus
Eunuchoid habitus 		0.100 Biomarker phenotype HPO
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.100 Biomarker group BEFREE No evidence for the involvement of the human c-erb genes in neoplasia has been found. 6323162 1984
CUI: C0206708
Disease: Cervical Intraepithelial Neoplasia
Cervical Intraepithelial Neoplasia 		0.010 Biomarker disease BEFREE Expression of the oncogenes Ha-RAS, c-MYC, and ERB-2 was investigated with an automated image analysis system in 12 specimens of normal cervix, 10 of cervical intraepithelial neoplasia (CIN) grade 1, 24 of CIN 3, and 10 of invasive cancer of the cervix. 1672915 1991
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma 		0.400 AlteredExpression disease BEFREE Role of DNA ploidy and ERB-B2 oncogene expression in the prognosis of endometrial carcinoma. 7746737 1994
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.600 Biomarker disease BEFREE Quantification of C-ERB-B2 gene amplification in breast cancer cells using fluorescence in situ hybridization and digital image analysis. 8616779 1996
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.400 Biomarker disease BEFREE Quantification of C-ERB-B2 gene amplification in breast cancer cells using fluorescence in situ hybridization and digital image analysis. 8616779 1996
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.600 AlteredExpression disease BEFREE Expression of estrogen receptor beta messenger RNA variant in breast cancer. 9443393 1998
CUI: C0014175
Disease: Endometriosis
Endometriosis 		0.400 GeneticVariation disease BEFREE Using reverse transcription-polymerase chain reaction (RT-PCR), we studied the expression of oestrogen receptor-alpha splicing variants and oestrogen receptor-beta in uterine biopsies from 12 patients with endometriosis and 15 patients with unexplained infertility. 9701786 1998
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.400 AlteredExpression disease BEFREE Expression of estrogen receptor beta messenger RNA variant in breast cancer. 9443393 1998
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.100 AlteredExpression group BEFREE ER beta gene expression was not limited to ER alpha-positive tumor subtypes, however, and was also found in 100% of null cell tumors, 80% of somatotroph tumors, and 60% of corticotroph tumors. 9745446 1998
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.100 Biomarker group BEFREE The mapped genes include three oncogenes (Fyn, Mas1, and Vav1), a tyrosine kinase gene (Syk), a tumor-associated antigen gene (Cd24), a growth factor receptor gene (Igf2r), the gene for an activator of c-fos/c-jun transcription factors (Apex), a transcription factor gene (Egr3), and several genes involved in steroid hormone metabolism and signaling (Esr2, Pgr, Cbg, Cyp17, and Cyp19). 9730607 1998
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.100 Biomarker group BEFREE However, because of its relatively close physical distance from the characteristic site of rearrangements in 14q23-24, a role for ESR2 in the pathobiology of these tumors warrants future consideration. 9824210 1998
CUI: C0042133
Disease: Uterine Fibroids
Uterine Fibroids 		0.070 Biomarker group BEFREE Using fluorescence in situ hybridization and radiation hybrid mapping, we map ESR2 within 14q23-24.1, to a region approximately 2 Mb centromeric to the t(12;14) breakpoint in uterine leiomyomata, between markers D14S63 and WI-7536. 9824210 1998
CUI: C0003125
Disease: Anorexia Nervosa
Anorexia Nervosa 		0.030 GeneticVariation disease BEFREE We systematically screened the coding region and part of the 5' and 3'regions of the estrogen receptor beta gene (ER beta) in 96 extremely obese children and adolescents, 50 patients with anorexia nervosa (AN), 28 patients with bulimia nervosa (BN), and 25 healthy underweight individuals. 9851804 1998
CUI: C0086692
Disease: Benign Neoplasm
Benign Neoplasm 		0.030 Biomarker group BEFREE The human estrogen receptor beta gene (ESR2) has been identified recently and mapped to 14q22-24, a region frequently rearranged in uterine leiomyomata and other benign tumors, including pulmonary chondroid hamartomas and endometrial polyps. 9824210 1998
CUI: C0018552
Disease: Hamartoma
Hamartoma 		0.010 AlteredExpression disease BEFREE Using RT-PCR, we show that ESR2 is expressed in uterine leiomyomata and pulmonary chondroid hamartomas as well as in normal myometrium. 9824210 1998
CUI: C0156369
Disease: Uterine Polyp
Uterine Polyp 		0.010 Biomarker disease BEFREE The human estrogen receptor beta gene (ESR2) has been identified recently and mapped to 14q22-24, a region frequently rearranged in uterine leiomyomata and other benign tumors, including pulmonary chondroid hamartomas and endometrial polyps. 9824210 1998
CUI: C2267227
Disease: Bulimia Nervosa
Bulimia Nervosa 		0.010 GeneticVariation disease BEFREE We systematically screened the coding region and part of the 5' and 3'regions of the estrogen receptor beta gene (ER beta) in 96 extremely obese children and adolescents, 50 patients with anorexia nervosa (AN), 28 patients with bulimia nervosa (BN), and 25 healthy underweight individuals. 9851804 1998