ESRRB, estrogen related receptor beta, 2103

N. diseases: 102; N. variants: 7
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: C1837857
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 35
DEAFNESS, AUTOSOMAL RECESSIVE 35 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 1 5 0.700 strong 1.000 2 5 1997 2008
CUI: C4264446
Disease: Mixed carcinoma
Mixed carcinoma 		disease Neoplastic Process 3 0.010 None 1.000 1 2017 2017
CUI: C1706731
Disease: Adult Extraskeletal Myxoid Chondrosarcoma
Adult Extraskeletal Myxoid Chondrosarcoma 		disease Neoplasms Neoplastic Process 23 0.010 None 1.000 1 1997 1997
CUI: C3665629
Disease: Dental fluorosis
Dental fluorosis 		disease Congenital Abnormality 24 3 0.010 None 1.000 1 2019 2019
CUI: C0220766
Disease: Congenital hypoplasia of adrenal gland
Congenital hypoplasia of adrenal gland 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases Congenital Abnormality 45 13 0.020 None 1.000 2 2005 2006
CUI: C1275278
Disease: Extraskeletal Myxoid Chondrosarcoma
Extraskeletal Myxoid Chondrosarcoma 		disease Neoplasms Neoplastic Process 50 0.010 None 1.000 1 1997 1997
CUI: C0263912
Disease: Rotator cuff syndrome
Rotator cuff syndrome 		disease Wounds and Injuries Disease or Syndrome 54 8 0.010 None 1.000 1 2015 2015
CUI: C0342482
Disease: X-linked Adrenal Hypoplasia
X-linked Adrenal Hypoplasia 		disease Endocrine System Diseases Disease or Syndrome 57 70 0.070 None 1.000 7 1996 2006
CUI: C0026618
Disease: Dental Fluorosis, Acquired
Dental Fluorosis, Acquired 		disease Stomatognathic Diseases Disease or Syndrome 62 10 0.010 None 1.000 1 2019 2019
CUI: C0152268
Disease: Nodular Sclerosis Classical Hodgkin Lymphoma
Nodular Sclerosis Classical Hodgkin Lymphoma 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 66 22 0.010 None 1.000 1 2003 2003
CUI: C0022283
Disease: Incontinentia Pigmenti Achromians
Incontinentia Pigmenti Achromians 		disease Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Congenital Abnormality 67 10 0.010 None 1.000 1 2018 2018
CUI: C0349788
Disease: Arrhythmogenic Right Ventricular Dysplasia
Arrhythmogenic Right Ventricular Dysplasia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome; Congenital Abnormality 82 136 0.010 None < 0.001 1 2017 2017
CUI: C0039494
Disease: Temporomandibular Joint Disorders
Temporomandibular Joint Disorders 		group Musculoskeletal Diseases; Stomatognathic Diseases Disease or Syndrome 84 25 0.020 None 1.000 2 1 2016 2018
CUI: C0339525
Disease: Autosomal dominant retinitis pigmentosa
Autosomal dominant retinitis pigmentosa 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 85 65 0.010 None 1.000 1 2007 2007
CUI: C0686347
Disease: Tardive Dyskinesia
Tardive Dyskinesia 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 94 67 0.010 None 1.000 1 2010 2010
CUI: C3714760
Disease: Drug-induced tardive dyskinesia
Drug-induced tardive dyskinesia 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Chemically-Induced Disorders Disease or Syndrome 94 67 0.010 None 1.000 1 2010 2010
CUI: C0752120
Disease: Spinocerebellar Ataxia Type 1
Spinocerebellar Ataxia Type 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 102 4 0.010 None 1.000 1 2006 2006
CUI: C0333519
Disease: Caries (morphologic abnormality)
Caries (morphologic abnormality) 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 106 33 0.020 None 1.000 2 2014 2017
CUI: C0349782
Disease: Ischemic cardiomyopathy
Ischemic cardiomyopathy 		disease Cardiovascular Diseases Disease or Syndrome 110 5 0.010 None < 0.001 1 2017 2017
CUI: C0022735
Disease: Klinefelter Syndrome
Klinefelter Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome 150 18 0.020 None 1.000 2 1996 2006
CUI: C1527390
Disease: Neoplasms, Intracranial
Neoplasms, Intracranial 		group Neoplasms; Nervous System Diseases Neoplastic Process 157 4 0.010 None 1.000 1 2019 2019
CUI: C1848296
Disease: DOSAGE-SENSITIVE SEX REVERSAL
DOSAGE-SENSITIVE SEX REVERSAL 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome 159 12 0.010 None 1.000 1 1999 1999
CUI: C3898127
Disease: Non-Metastatic Childhood Soft Tissue Sarcoma
Non-Metastatic Childhood Soft Tissue Sarcoma 		disease Neoplastic Process 160 3 0.010 None 1.000 1 2018 2018
CUI: C0220613
Disease: Adult Soft Tissue Sarcoma
Adult Soft Tissue Sarcoma 		disease Neoplastic Process 162 3 0.010 None 1.000 1 2018 2018
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 163 66 0.310 definitive 1.000 6 2007 2014