ATP8, ATP synthase F0 subunit 8, 4509

N. diseases: 43; N. variants: 66
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: C0023264
Disease: Leigh Disease
Leigh Disease 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 144 114 0.020 None 1.000 2 6 2005 2016
CUI: C1708371
Disease: Histiocytoid Cardiomyopathy
Histiocytoid Cardiomyopathy 		disease Cardiovascular Diseases Disease or Syndrome 12 3 0.100 None 1.000 2 1 2009 2016
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6776 2793 0.020 None 1.000 2 2014 2016
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6941 3417 0.020 None 1.000 2 2014 2016
CUI: C4732796
Disease: Apical hypertrophic cardiomyopathy
Apical hypertrophic cardiomyopathy 		disease Cardiovascular Diseases Disease or Syndrome 10 3 0.010 None 1.000 1 2008 2008
CUI: C0442874
Disease: Neuropathy
Neuropathy 		group Nervous System Diseases Disease or Syndrome 484 110 0.010 None 1.000 1 2008 2008
CUI: C0038436
Disease: Post-Traumatic Stress Disorder
Post-Traumatic Stress Disorder 		disease Mental Disorders Mental or Behavioral Dysfunction 418 117 0.010 None 1.000 1 2015 2015
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		group Nutritional and Metabolic Diseases Disease or Syndrome 284 84 0.010 None 1.000 1 4 2016 2016
CUI: C1279945
Disease: Acute interstitial pneumonia
Acute interstitial pneumonia 		disease Respiratory Tract Diseases Disease or Syndrome 88 8 0.010 None 1.000 1 2014 2014
CUI: C1328349
Disease: Neuropathy ataxia and retinis pigmentosa
Neuropathy ataxia and retinis pigmentosa 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 7 2 0.010 None 1.000 1 2 2016 2016
CUI: C1857276
Disease: Trichohepatoenteric Syndrome
Trichohepatoenteric Syndrome 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases Disease or Syndrome 424 28 0.010 None 1.000 1 2016 2016
CUI: C4751573
Disease: Periodic paralysis with later-onset distal motor neuropathy
Periodic paralysis with later-onset distal motor neuropathy 		disease Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 2 0.300 None 1.000 1 2013 2013
CUI: C2748884
Disease: CARDIOMYOPATHY, INFANTILE HYPERTROPHIC
CARDIOMYOPATHY, INFANTILE HYPERTROPHIC 		disease Disease or Syndrome 9 3 0.400 None 1.000 1 1 2009 2009
CUI: C3887709
Disease: Optic Neuropathy
Optic Neuropathy 		disease Eye Diseases; Nervous System Diseases Disease or Syndrome 54 8 0.100 None 1.000 1 1 2017 2017
CUI: C4757950
Disease: Isolated ATP synthase deficiency
Isolated ATP synthase deficiency 		disease Disease or Syndrome 8 1 0.300 None 1.000 1 2009 2009
CUI: C2609129
Disease: Autoimmune pancreatitis
Autoimmune pancreatitis 		disease Digestive System Diseases; Immune System Diseases Disease or Syndrome 49 3 0.010 None 1.000 1 2014 2014
CUI: C0206677
Disease: Adenomatous Polyps
Adenomatous Polyps 		disease Neoplasms Neoplastic Process 120 20 0.010 None 1.000 1 2010 2010
CUI: C0035126
Disease: Reperfusion Injury
Reperfusion Injury 		disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Injury or Poisoning 300 0.200 None 1.000 1 2010 2010
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis 		disease Immune System Diseases; Nervous System Diseases Disease or Syndrome 1800 1022 0.010 None 1.000 1 2007 2007
CUI: C0023452
Disease: Childhood Acute Lymphoblastic Leukemia
Childhood Acute Lymphoblastic Leukemia 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 1096 261 0.010 None 1.000 1 2018 2018
CUI: C0162565
Disease: Acute intermittent porphyria
Acute intermittent porphyria 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 103 68 0.010 None 1.000 1 2014 2014
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		disease Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 3134 2672 0.010 None 1.000 1 1 2017 2017
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases 		group Immune System Diseases Disease or Syndrome 1758 428 0.010 None 1.000 1 2014 2014
CUI: C4531094
Disease: Abnormal mitral valve physiology
Abnormal mitral valve physiology 		phenotype Anatomical Abnormality 4 10 0.100 None 0 10
CUI: C0022541
Disease: Kearns-Sayre syndrome
Kearns-Sayre syndrome 		disease Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 29 5 0.300 None 0