EFHC2, EF-hand domain containing 2, 80258

N. diseases: 8; N. variants: 2
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: C0041408
Disease: Turner Syndrome
Turner Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases; Cardiovascular Diseases Disease or Syndrome 162 21 0.050 None 1.000 5 1 2007 2018
CUI: C0270853
Disease: Juvenile Myoclonic Epilepsy
Juvenile Myoclonic Epilepsy
disease Nervous System Diseases Disease or Syndrome 74 46 0.020 None 1.000 2 1 2006 2018
CUI: C0001973
Disease: Alcoholic Intoxication, Chronic
Alcoholic Intoxication, Chronic
disease Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction 577 441 0.010 None 1.000 1 2018 2018
CUI: C0002893
Disease: Refractory anemias
Refractory anemias
disease Hemic and Lymphatic Diseases Disease or Syndrome 340 11 0.010 None 1.000 1 2018 2018
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
disease Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases Disease or Syndrome 2723 2387 0.010 None 1.000 1 2018 2018
CUI: C0014550
Disease: Myoclonic Epilepsy
Myoclonic Epilepsy
disease Nervous System Diseases Disease or Syndrome 71 9 0.010 None 1.000 1 2007 2007
CUI: C0030319
Disease: Panic Disorder
Panic Disorder
disease Mental Disorders Mental or Behavioral Dysfunction 175 101 0.010 None 1.000 1 2009 2009
CUI: C0266526
Disease: Norrie disease
Norrie disease
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases Congenital Abnormality 55 28 0.010 None 1.000 1 2007 2007