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: C1136154
Disease: Posterior Tibial Tendon Dysfunction
Posterior Tibial Tendon Dysfunction 		disease Musculoskeletal Diseases Disease or Syndrome 1 0.020 None 1.000 2 2010 2018
CUI: C0005723
Disease: Oral paracoccidioidomycosis
Oral paracoccidioidomycosis 		disease Infections; Stomatognathic Diseases Disease or Syndrome 1 0.010 None 1.000 1 2018 2018
CUI: C0391970
Disease: Carcinoid tumor, malignant
Carcinoid tumor, malignant 		phenotype Neoplasms Neoplastic Process 1 2 0.010 None 1.000 1 1980 1980
CUI: C0549618
Disease: MALE GENITAL ABNORMALITIES
MALE GENITAL ABNORMALITIES 		group Anatomical Abnormality 1 0.010 None 1.000 1 2007 2007
CUI: C1260964
Disease: Eccrine ductal carcinoma
Eccrine ductal carcinoma 		disease Neoplastic Process 1 0.010 None 1.000 1 2017 2017
CUI: C1335184
Disease: Ovarian Transitional Cell Carcinoma
Ovarian Transitional Cell Carcinoma 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Neoplastic Process 1 0.010 None 1.000 1 2005 2005
CUI: C1955566
Disease: Intravenous bisphosphonates
Intravenous bisphosphonates 		disease Disease or Syndrome 1 0.010 None 1.000 1 2018 2018
CUI: C4042789
Disease: Right-Sided Breast Neoplasms
Right-Sided Breast Neoplasms 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 1 0.010 None 1.000 1 2019 2019
CUI: C4280734
Disease: Facet joint arthrosis
Facet joint arthrosis 		disease Disease or Syndrome 1 0.010 None 1.000 1 2005 2005
CUI: C4543876
Disease: Postmenopausal osteopenia
Postmenopausal osteopenia 		disease Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome 1 0.010 None 1.000 1 2017 2017
CUI: C4016037
Disease: ESTROGEN RECEPTOR MUTANT, TEMPERATURE-SENSITIVE
ESTROGEN RECEPTOR MUTANT, TEMPERATURE-SENSITIVE 		phenotype Finding 1 1 0.100 None 0 1
CUI: C4021240
Disease: Elevated tissue non-specific alkaline phosphatase
Elevated tissue non-specific alkaline phosphatase 		phenotype Finding 1 0.100 None 0
CUI: C0017577
Disease: Chronic desquamative gingivitis
Chronic desquamative gingivitis 		disease Stomatognathic Diseases Disease or Syndrome 2 0.010 None 1.000 1 2000 2000
CUI: C0156390
Disease: Polyp of vagina
Polyp of vagina 		disease Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process 2 0.010 None 1.000 1 2011 2011
CUI: C0747690
Disease: Postobstructive pneumonia
Postobstructive pneumonia 		disease Infections; Respiratory Tract Diseases Disease or Syndrome 2 0.010 None 1.000 1 2017 2017
CUI: C1142150
Disease: Autoimmune nephritis
Autoimmune nephritis 		disease Disease or Syndrome 2 0.010 None 1.000 1 2004 2004
CUI: C1328544
Disease: Tubular breast carcinoma
Tubular breast carcinoma 		disease Neoplasms Neoplastic Process 2 0.010 None 1.000 1 2018 2018
CUI: C1334277
Disease: Invasive Ductal and Lobular Carcinoma
Invasive Ductal and Lobular Carcinoma 		disease Neoplastic Process 2 0.010 None 1.000 1 2017 2017
CUI: C1511302
Disease: Breast Carcinoma with Choriocarcinomatous Features
Breast Carcinoma with Choriocarcinomatous Features 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 2 0.010 None 1.000 1 2006 2006
CUI: C1963718
Disease: Oculorespiratory syndrome
Oculorespiratory syndrome 		disease Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases; Immune System Diseases; Cardiovascular Diseases Disease or Syndrome 2 0.010 None 1.000 1 2018 2018
CUI: C3494419
Disease: Dentofacial Deformities
Dentofacial Deformities 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Anatomical Abnormality 2 1 0.010 None 1.000 1 2016 2016
CUI: C1266138
Disease: Benign cystic nephroma
Benign cystic nephroma 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 3 0.020 None 1.000 2 2009 2017
CUI: C2698204
Disease: Metastatic Lobular Breast Carcinoma
Metastatic Lobular Breast Carcinoma 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 3 0.020 None 1.000 2 2017 2019
CUI: C0026858
Disease: Musculoskeletal Pain
Musculoskeletal Pain 		phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases Finding 3 0.300 None 1.000 1 2014 2014
CUI: C0334385
Disease: Inflammatory carcinoma
Inflammatory carcinoma 		phenotype Neoplasms Neoplastic Process 3 0.010 None 1.000 1 2013 2013