ATP5F1A, ATP synthase F1 subunit alpha, 498

N. diseases: 84; N. variants: 3
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: C3808899
Disease: MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4
MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4 		disease Disease or Syndrome 1 1 0.700 moderate 1.000 2 1 2013 2013
CUI: C4015062
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22 		disease Disease or Syndrome 1 1 0.700 moderate 1.000 2 1 2013 2013
CUI: C0239154
Disease: High pitched cry
High pitched cry 		phenotype Behavior and Behavior Mechanisms Finding 5 0.100 None 0
CUI: C4757950
Disease: Isolated ATP synthase deficiency
Isolated ATP synthase deficiency 		disease Disease or Syndrome 8 1 0.300 None 1.000 1 2013 2013
CUI: C1852373
Disease: Mitochondrial encephalopathy
Mitochondrial encephalopathy 		disease Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 32 8 0.010 None 1.000 1 2013 2013
CUI: C0268630
Disease: Hyper-beta-alaninemia
Hyper-beta-alaninemia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders Disease or Syndrome 33 0.100 None 0
CUI: C0160390
Disease: Injury of liver
Injury of liver 		disease Digestive System Diseases; Wounds and Injuries Injury or Poisoning 36 0.200 None 1.000 1 2015 2015
CUI: C2960127
Disease: Heart failure with normal ejection fraction
Heart failure with normal ejection fraction 		disease Cardiovascular Diseases Disease or Syndrome 47 0.010 None 1.000 1 2019 2019
CUI: C0949857
Disease: Mitochondrial Respiratory Chain Deficiencies
Mitochondrial Respiratory Chain Deficiencies 		disease Nutritional and Metabolic Diseases Disease or Syndrome 49 3 0.010 None 1.000 1 2013 2013
CUI: C0040479
Disease: Torsades de Pointes
Torsades de Pointes 		disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 51 14 0.010 None 1.000 1 2018 2018
CUI: C0221074
Disease: Depression, Postpartum
Depression, Postpartum 		disease Female Urogenital Diseases and Pregnancy Complications; Mental Disorders Mental or Behavioral Dysfunction 54 6 0.010 None 1.000 1 2018 2018
CUI: C0151636
Disease: Premature ventricular contractions
Premature ventricular contractions 		phenotype Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 56 13 0.010 None 1.000 1 2018 2018
CUI: C0242184
Disease: Hypoxia
Hypoxia 		phenotype Pathological Conditions, Signs and Symptoms Pathologic Function 59 0.200 None 1.000 1 2012 2012
CUI: C2750440
Disease: FATTY LIVER DISEASE, NONALCOHOLIC, SUSCEPTIBILITY TO, 1
FATTY LIVER DISEASE, NONALCOHOLIC, SUSCEPTIBILITY TO, 1 		disease Finding 63 2 0.200 None 1.000 1 2014 2014
CUI: C2750441
Disease: LIVER DISEASE, ALCOHOLIC, SUSCEPTIBILITY TO, 1
LIVER DISEASE, ALCOHOLIC, SUSCEPTIBILITY TO, 1 		phenotype Finding 63 0.200 None 1.000 1 2014 2014
CUI: C3150651
Disease: FATTY LIVER DISEASE, NONALCOHOLIC, SUSCEPTIBILITY TO, 2
FATTY LIVER DISEASE, NONALCOHOLIC, SUSCEPTIBILITY TO, 2 		phenotype Finding 63 0.200 None 1.000 1 2014 2014
CUI: C4285807
Disease: Behavioral and psychological symptoms of dementia
Behavioral and psychological symptoms of dementia 		phenotype Sign or Symptom 72 9 0.010 None 1.000 1 2017 2017
CUI: C4509226
Disease: Heart failure with preserved ejection fraction [HFpEF]
Heart failure with preserved ejection fraction [HFpEF] 		disease Disease or Syndrome 89 4 0.010 None 1.000 1 2019 2019
CUI: C0546126
Disease: Acute Confusional Senile Dementia
Acute Confusional Senile Dementia 		disease Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction 99 0.300 None 1.000 1 2009 2009
CUI: C0750900
Disease: Alzheimer's Disease, Focal Onset
Alzheimer's Disease, Focal Onset 		disease Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction 99 0.300 None 1.000 1 2009 2009
CUI: C4552810
Disease: Irritability, CTCAE
Irritability, CTCAE 		phenotype Finding 140 0.100 None 0
CUI: C0022107
Disease: Irritable Mood
Irritable Mood 		phenotype Behavior and Behavior Mechanisms Finding 142 1 0.100 None 0
CUI: C2700617
Disease: Irritation - emotion
Irritation - emotion 		phenotype Behavior and Behavior Mechanisms Mental Process 147 14 0.100 None 0
CUI: C0020542
Disease: Pulmonary Hypertension
Pulmonary Hypertension 		phenotype Respiratory Tract Diseases Pathologic Function 156 0.200 None 1.000 1 2011 2011
CUI: C0872084
Disease: Sarcopenia
Sarcopenia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 164 10 0.200 None 1.000 1 2010 2010