ERG, ETS transcription factor ERG, 2078

N. diseases: 298; N. variants: 31
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: C0028259
Disease: Nodule
Nodule 		phenotype Acquired Abnormality 278 19 0.020 None 1.000 2 2013 2015
CUI: C2748203
Disease: Vitreomacular adhesion
Vitreomacular adhesion 		phenotype Anatomical Abnormality 6 0.010 None 1.000 1 2018 2018
CUI: C0428883
Disease: Diastolic blood pressure
Diastolic blood pressure 		phenotype Clinical Attribute 507 1037 0.100 None 1.000 2 1 2017 2019
CUI: C0339526
Disease: Autosomal recessive retinitis pigmentosa
Autosomal recessive retinitis pigmentosa 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 82 31 0.020 None 1.000 2 2014 2018
CUI: C0339535
Disease: Night blindness, congenital stationary
Night blindness, congenital stationary 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 32 52 0.020 None 1.000 2 2001 2002
CUI: C0078918
Disease: Albinism, Oculocutaneous
Albinism, Oculocutaneous 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases Congenital Abnormality 49 45 0.010 None 1.000 1 1981 1981
CUI: C0311338
Disease: Fundus Albipunctatus
Fundus Albipunctatus 		disease Eye Diseases Congenital Abnormality 9 21 0.010 None 1.000 1 2005 2005
CUI: C0339508
Disease: Hereditary macular dystrophy
Hereditary macular dystrophy 		disease Congenital Abnormality 39 10 0.010 None 1.000 1 1 2001 2001
CUI: C0339528
Disease: X-linked retinitis pigmentosa
X-linked retinitis pigmentosa 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 29 7 0.010 None 1.000 1 2007 2007
CUI: C1297882
Disease: Partial Trisomy
Partial Trisomy 		disease Pathological Conditions, Signs and Symptoms Congenital Abnormality 29 0.010 None 1.000 1 1996 1996
CUI: C0268398
Disease: Familial lichen amyloidosis
Familial lichen amyloidosis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 230 24 0.100 None 1.000 18 2007 2017
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 546 541 0.100 None 1.000 13 2 1984 2018
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 766 80 0.100 None 1.000 11 1996 2020
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 669 77 0.100 None 1.000 10 1996 2020
CUI: C0085635
Disease: Photopsia
Photopsia 		phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome 35 0.070 None 0.857 7 2014 2019
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis 		disease Immune System Diseases; Nervous System Diseases Disease or Syndrome 1800 1022 0.150 None 1.000 6 1 2016 2019
CUI: C0035309
Disease: Retinal Diseases
Retinal Diseases 		group Eye Diseases Disease or Syndrome 714 56 0.050 None 1.000 5 2 2002 2019
CUI: C0271091
Disease: Retinoschisis, Juvenile, X-Linked
Retinoschisis, Juvenile, X-Linked 		disease Eye Diseases Disease or Syndrome 10 16 0.040 None 1.000 4 2005 2019
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		disease Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases Disease or Syndrome 2723 2387 0.030 None 1.000 3 1992 2002
CUI: C0033575
Disease: Prostatic Diseases
Prostatic Diseases 		group Male Urogenital Diseases Disease or Syndrome 72 4 0.030 None 1.000 3 2016 2017
CUI: C0162871
Disease: Aortic Aneurysm, Abdominal
Aortic Aneurysm, Abdominal 		disease Cardiovascular Diseases Disease or Syndrome 586 90 0.120 None 1.000 3 1 2017 2020
CUI: C0272138
Disease: Erythroblastosis
Erythroblastosis 		disease Disease or Syndrome 89 0.030 None 1.000 3 2016 2020
CUI: C0730290
Disease: Cone Dystrophy
Cone Dystrophy 		disease Eye Diseases Disease or Syndrome 48 31 0.030 None 1.000 3 1999 2014
CUI: C0751383
Disease: Juvenile Neuronal Ceroid Lipofuscinosis
Juvenile Neuronal Ceroid Lipofuscinosis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 52 73 0.030 None 1.000 3 1981 2017
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		disease Disease or Syndrome 23 317 0.030 None 1.000 3 2005 2018