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: C0595995
Disease: Idiopathic scoliosis
Idiopathic scoliosis 		disease Musculoskeletal Diseases Acquired Abnormality 46 17 0.060 None 0.667 6 1 2002 2014
CUI: C0152459
Disease: Linear atrophy
Linear atrophy 		disease Pathological Conditions, Signs and Symptoms Acquired Abnormality 149 6 0.030 None 0.667 3 2017 2018
CUI: C0028259
Disease: Nodule
Nodule 		phenotype Acquired Abnormality 278 19 0.020 None 1.000 2 2015 2019
CUI: C0086543
Disease: Cataract
Cataract 		disease Eye Diseases Acquired Abnormality 878 124 0.020 None 1.000 2 2002 2004
CUI: C0333307
Disease: Superficial ulcer
Superficial ulcer 		disease Pathological Conditions, Signs and Symptoms Acquired Abnormality 242 10 0.020 None 1.000 2 2019 2020
CUI: C0080233
Disease: Tooth Loss
Tooth Loss 		disease Stomatognathic Diseases Acquired Abnormality 49 8 0.010 None 1.000 1 2003 2003
CUI: C0205204
Disease: Scab
Scab 		disease Acquired Abnormality 24 0.010 None 1.000 1 2019 2019
CUI: C0376154
Disease: Skin callus
Skin callus 		disease Skin and Connective Tissue Diseases Acquired Abnormality 154 0.010 None 1.000 1 2017 2017
CUI: C0740391
Disease: Middle Cerebral Artery Occlusion
Middle Cerebral Artery Occlusion 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases Acquired Abnormality 626 0.010 None 1.000 1 2017 2017
CUI: C0746025
Disease: Lumbar spondylolisthesis
Lumbar spondylolisthesis 		phenotype Musculoskeletal Diseases Acquired Abnormality 10 0.010 None 1.000 1 2013 2013
CUI: C0410702
Disease: Adolescent idiopathic scoliosis
Adolescent idiopathic scoliosis 		disease Musculoskeletal Diseases Anatomical Abnormality 656 1178 0.070 None 1.000 7 1 2002 2014
CUI: C0032584
Disease: polyps
polyps 		phenotype Pathological Conditions, Signs and Symptoms Anatomical Abnormality 390 18 0.030 None 1.000 3 2003 2008
CUI: C0877104
Disease: Retinal toxicity
Retinal toxicity 		disease Anatomical Abnormality 12 0.020 None 1.000 2 2017 2019
CUI: C0003855
Disease: Arteriovenous fistula
Arteriovenous fistula 		phenotype Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Anatomical Abnormality 93 8 0.010 None < 0.001 1 2019 2019
CUI: C0039147
Disease: Syrinx formation
Syrinx formation 		disease Anatomical Abnormality 18 0.010 None 1.000 1 2018 2018
CUI: C0549618
Disease: MALE GENITAL ABNORMALITIES
MALE GENITAL ABNORMALITIES 		group Anatomical Abnormality 1 0.010 None 1.000 1 2007 2007
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: C3854333
Disease: Narrowing
Narrowing 		disease Anatomical Abnormality 8 0.010 None 1.000 1 2005 2005
CUI: C3889085
Disease: Ascending aortic dilatation
Ascending aortic dilatation 		phenotype Anatomical Abnormality 7 0.010 None < 0.001 1 2019 2019
CUI: C4025320
Disease: Craniofacial asymmetry
Craniofacial asymmetry 		disease Pathological Conditions, Signs and Symptoms Anatomical Abnormality 16 0.010 None 1.000 1 2017 2017
CUI: C0025568
Disease: Metaplasia
Metaplasia 		phenotype Pathological Conditions, Signs and Symptoms Cell or Molecular Dysfunction 52 0.010 None 1.000 1 2007 2007
CUI: C0544886
Disease: Somatic mutation
Somatic mutation 		phenotype Cell or Molecular Dysfunction 151 0.100 None 0
CUI: C0005938
Disease: Bone Density
Bone Density 		phenotype Clinical Attribute 138 654 0.100 None 1.000 4 48 2008 2018
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		phenotype Clinical Attribute 843 1931 0.100 None 1.000 3 4 2017 2019
CUI: C0424678
Disease: Lean body mass
Lean body mass 		phenotype Clinical Attribute 144 211 0.100 None 1.000 1 1 2019 2019