ATG5, autophagy related 5, 9474

N. diseases: 282; N. variants: 36
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.
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 25
disease Disease or Syndrome 1 1 0.300 None 1.000 1 1 2016 2016
CUI: C0684516
Disease: Benign bone neoplasm
Benign bone neoplasm
group Neoplasms; Musculoskeletal Diseases Neoplastic Process 8 0.010 None 1.000 1 2018 2018
CUI: C0729555
Disease: Infection of digestive system
Infection of digestive system
group Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Infections Disease or Syndrome 8 0.010 None 1.000 1 2018 2018
CUI: C0009730
Disease: Spinal meningocele
Spinal meningocele
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality 10 0.010 None 1.000 1 1996 1996
CUI: C0270707
Disease: Kluver-Bucy Syndrome
Kluver-Bucy Syndrome
disease Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction 10 0.010 None 1.000 1 2018 2018
CUI: C1879828
Disease: Benign Teratoma
Benign Teratoma
disease Neoplasms Neoplastic Process 10 0.010 None 1.000 1 1996 1996
CUI: C0025299
Disease: Meningocele
Meningocele
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 11 0.010 None 1.000 1 1996 1996
Epidermolysis Bullosa Simplex Superficialis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 11 0.010 None 1.000 1 2017 2017
CUI: C4284120
Disease: Ecstasy related disorders
Ecstasy related disorders
disease Mental or Behavioral Dysfunction 15 0.010 None 1.000 1 2009 2009
CUI: C0344911
Disease: Left ventricular dilatation
Left ventricular dilatation
disease Congenital Abnormality 17 3 0.010 None 1.000 1 2007 2007
CUI: C0748540
Disease: Scleroderma, Limited
Scleroderma, Limited
disease Skin and Connective Tissue Diseases Disease or Syndrome 17 10 0.100 None 1.000 1 1 2014 2014
CUI: C4082764
Disease: Gastrointestinal infection
Gastrointestinal infection
disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Infections Disease or Syndrome 17 0.010 None 1.000 1 2018 2018
CUI: C0278080
Disease: Physical addiction
Physical addiction
disease Chemically-Induced Disorders; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 18 0.010 None 1.000 1 2017 2017
CUI: C0404521
Disease: Infective vaginitis
Infective vaginitis
disease Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Infections Disease or Syndrome 18 0.010 None 1.000 1 2018 2018
CUI: C0281658
Disease: Intraocular Lymphoma
Intraocular Lymphoma
disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 19 0.010 None 1.000 1 2017 2017
CUI: C1843920
Disease: COENZYME Q10 DEFICIENCY
COENZYME Q10 DEFICIENCY
disease Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 21 3 0.010 None 1.000 1 2009 2009
CUI: C1443892
Disease: Chronic Q Fever
Chronic Q Fever
disease Infections Disease or Syndrome 22 9 0.010 None 1.000 1 1 2019 2019
CUI: C1142339
Disease: Intestinal adenoma
Intestinal adenoma
disease Neoplastic Process 23 0.010 None 1.000 1 2015 2015
CUI: C3532239
Disease: Mitochondrial cardiomyopathy
Mitochondrial cardiomyopathy
disease Disease or Syndrome 23 7 0.010 None 1.000 1 1996 1996
CUI: C3839460
Disease: Nonprogressive
Nonprogressive
phenotype Finding 24 0.100 None 0
CUI: C0276680
Disease: Infection by Candida albicans
Infection by Candida albicans
disease Infections Disease or Syndrome 30 0.010 None 1.000 1 2018 2018
CUI: C0011649
Disease: Dermoid Cyst
Dermoid Cyst
disease Neoplasms Neoplastic Process 33 0.010 None 1.000 1 1996 1996
CUI: C1261470
Disease: Congenital meningocele
Congenital meningocele
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 33 0.010 None 1.000 1 1996 1996
INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders Disease or Syndrome 34 6 0.010 None 1.000 1 2019 2019
CUI: C0003493
Disease: Aortic Diseases
Aortic Diseases
group Cardiovascular Diseases Disease or Syndrome 43 2 0.010 None 1.000 1 2019 2019