EPHA3, EPH receptor A3, 2042

N. diseases: 193; N. variants: 18
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: C0006109
Disease: Brain Damage, Chronic
Brain Damage, Chronic 		disease Nervous System Diseases Disease or Syndrome 2 0.010 None 1.000 1 2002 2002
CUI: C2678485
Disease: LONG QT SYNDROME 9 (disorder)
LONG QT SYNDROME 9 (disorder) 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome 4 6 0.010 None 1.000 1 2013 2013
CUI: C0863183
Disease: Larynx carcinoma recurrent
Larynx carcinoma recurrent 		disease Neoplastic Process 5 0.010 None 1.000 1 2018 2018
CUI: C1833429
Disease: D-2-hydroxyglutaric aciduria
D-2-hydroxyglutaric aciduria 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 5 6 0.010 None 1.000 1 2005 2005
CUI: C2746066
Disease: Combined D-2- and L-2-hydroxyglutaric aciduria
Combined D-2- and L-2-hydroxyglutaric aciduria 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 6 14 0.010 None 1.000 1 2005 2005
CUI: C4552482
Disease: CSSSI
CSSSI 		disease Disease or Syndrome 9 0.010 None 1.000 1 2015 2015
CUI: C3714580
Disease: Hypokalemic periodic paralysis type 1
Hypokalemic periodic paralysis type 1 		disease Disease or Syndrome 12 24 0.010 None 1.000 1 2007 2007
CUI: C0234166
Disease: Hyperexplexia
Hyperexplexia 		phenotype Nervous System Diseases Sign or Symptom 13 36 0.010 None 1.000 1 1 2002 2002
CUI: C0221055
Disease: Paramyotonia Congenita (disorder)
Paramyotonia Congenita (disorder) 		disease Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 17 26 0.010 None 1.000 1 1999 1999
CUI: C0410538
Disease: Pseudoachondroplasia
Pseudoachondroplasia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 19 16 0.010 None 1.000 1 2004 2004
CUI: C0238286
Disease: Mucolipidosis Type IV
Mucolipidosis Type IV 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 22 38 0.010 None 1.000 1 2010 2010
CUI: C1704380
Disease: Distal Renal Tubular Acidosis
Distal Renal Tubular Acidosis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 23 18 0.020 None 1.000 2 2002 2004
CUI: C1319860
Disease: Sendai virus infection
Sendai virus infection 		disease Infections Disease or Syndrome 25 1 0.010 None 1.000 1 2017 2017
CUI: C0338113
Disease: Uterine Corpus Sarcoma
Uterine Corpus Sarcoma 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process 30 0.010 None 1.000 1 2018 2018
CUI: C0518948
Disease: Chlamydia trachomatis infection
Chlamydia trachomatis infection 		disease Female Urogenital Diseases and Pregnancy Complications; Infections; Male Urogenital Diseases Disease or Syndrome 36 1 0.010 None 1.000 1 2013 2013
CUI: C0751951
Disease: Central Core Myopathy (disorder)
Central Core Myopathy (disorder) 		disease Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 44 110 0.020 None 1.000 2 1999 2005
CUI: C1857451
Disease: Acth-Independent Macronodular Adrenal Hyperplasia
Acth-Independent Macronodular Adrenal Hyperplasia 		disease Endocrine System Diseases Disease or Syndrome 46 8 0.010 None 1.000 1 2012 2012
CUI: C0004775
Disease: Bartter Disease
Bartter Disease 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome 47 8 0.010 None 1.000 1 2014 2014
CUI: C0001126
Disease: Renal tubular acidosis
Renal tubular acidosis 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 52 3 0.010 None 1.000 1 2018 2018
CUI: C0022595
Disease: Keratosis Follicularis
Keratosis Follicularis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 57 21 0.010 None 1.000 1 2003 2003
CUI: C0024591
Disease: Malignant hyperpyrexia due to anesthesia
Malignant hyperpyrexia due to anesthesia 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 60 52 0.020 None 1.000 2 1999 2005
CUI: C0162283
Disease: Nephrogenic Diabetes Insipidus
Nephrogenic Diabetes Insipidus 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 60 41 0.010 None 1.000 1 1997 1997
CUI: C0042974
Disease: von Willebrand Disease
von Willebrand Disease 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 62 78 0.010 None 1.000 1 2016 2016
CUI: C0854917
Disease: Rhabdoid Tumor of the Kidney
Rhabdoid Tumor of the Kidney 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 62 0.010 None 1.000 1 2017 2017
CUI: C1136085
Disease: Monoclonal Gammapathies
Monoclonal Gammapathies 		group Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 62 2 0.010 None 1.000 1 2017 2017