ESR1, estrogen receptor 1, 2099

N. diseases: 1101; N. variants: 185
Source: ALL
Disease Type Disease Class Semantic Type N. genes d N. SNPs d Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
CUI: C3539878
Disease: Triple Negative Breast Neoplasms
Triple Negative Breast Neoplasms 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 1674 99 0.100 None 0.833 269 2008 2020
CUI: C4722518
Disease: Triple-Negative Breast Carcinoma
Triple-Negative Breast Carcinoma 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 1598 96 0.100 None 0.829 228 2008 2020
CUI: C0278488
Disease: Carcinoma breast stage IV
Carcinoma breast stage IV 		disease Neoplastic Process 573 14 0.100 None 0.991 106 1995 2020
CUI: C0029456
Disease: Osteoporosis
Osteoporosis 		disease Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome 1098 182 0.400 None 0.973 73 1995 2019
CUI: C0178874
Disease: Tumor Progression
Tumor Progression 		phenotype Pathological Conditions, Signs and Symptoms Neoplastic Process 3865 72 0.100 None 0.909 66 1993 2020
CUI: C4733095
Disease: HER2-negative breast cancer
HER2-negative breast cancer 		disease Neoplastic Process 160 18 0.100 None 0.985 66 2010 2020
CUI: C2939419
Disease: Secondary Neoplasm
Secondary Neoplasm 		group Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 2492 85 0.100 None 0.984 64 1992 2020
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		disease Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases Disease or Syndrome 2723 2387 0.100 None 0.977 44 2000 2020
CUI: C0007124
Disease: Noninfiltrating Intraductal Carcinoma
Noninfiltrating Intraductal Carcinoma 		disease Neoplasms Neoplastic Process 486 13 0.100 None 1.000 42 2000 2020
CUI: C3642345
Disease: Luminal A Breast Carcinoma
Luminal A Breast Carcinoma 		disease Neoplastic Process 153 11 0.100 None 1.000 36 2006 2019
CUI: C0023267
Disease: Fibroid Tumor
Fibroid Tumor 		disease Neoplasms Neoplastic Process 413 14 0.400 None 1.000 34 1995 2019
CUI: C3495917
Disease: Advanced breast cancer
Advanced breast cancer 		disease Neoplastic Process 151 3 0.100 None 1.000 33 2006 2020
CUI: C1512127
Disease: HER2 gene amplification
HER2 gene amplification 		disease Disease or Syndrome 170 14 0.100 None 0.906 32 1989 2019
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 3926 712 0.100 None 1.000 28 2004 2019
CUI: C0029453
Disease: Osteopenia
Osteopenia 		disease Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome 845 61 0.500 None 0.964 28 1997 2019
CUI: C1134719
Disease: Invasive Ductal Breast Carcinoma
Invasive Ductal Breast Carcinoma 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 414 16 0.100 None 0.926 27 1997 2019
CUI: C1960398
Disease: HER2-positive carcinoma of breast
HER2-positive carcinoma of breast 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 288 26 0.100 None 1.000 27 2010 2020
CUI: C3642346
Disease: Luminal B Breast Carcinoma
Luminal B Breast Carcinoma 		disease Neoplastic Process 103 7 0.100 None 0.962 26 2006 2019
CUI: C4733094
Disease: progesterone receptor-positive breast cancer
progesterone receptor-positive breast cancer 		disease Neoplastic Process 28 17 0.100 None 0.917 24 2005 2019
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma 		disease Neoplasms Neoplastic Process 2283 178 0.100 None 1.000 23 1988 2019
CUI: C2986665
Disease: Early-Stage Breast Carcinoma
Early-Stage Breast Carcinoma 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 142 7 0.100 None 1.000 22 2007 2019
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 4173 1142 0.400 None 0.952 21 1999 2019
CUI: C0585442
Disease: Osteosarcoma of bone
Osteosarcoma of bone 		disease Neoplasms Neoplastic Process 2247 151 0.100 None 1.000 20 1988 2019
CUI: C0153690
Disease: Secondary malignant neoplasm of bone
Secondary malignant neoplasm of bone 		disease Pathological Conditions, Signs and Symptoms; Neoplasms; Musculoskeletal Diseases Neoplastic Process 647 18 0.100 None 0.947 19 2004 2020
CUI: C0279565
Disease: Invasive Lobular Breast Carcinoma
Invasive Lobular Breast Carcinoma 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 88 0.100 None 0.947 19 2014 2019