ATP5F1D, ATP synthase F1 subunit delta, 513

N. diseases: 69; 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: C4748269
Disease: MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 5
MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 5 		disease Disease or Syndrome 1 2 0.600 strong 1.000 1 2 2018 2018
CUI: C0476369
Disease: Echocardiogram abnormal
Echocardiogram abnormal 		phenotype Finding 3 1 0.100 None 1.000 1 1 2018 2018
CUI: C4022765
Disease: Abnormality of the subarachnoid space
Abnormality of the subarachnoid space 		phenotype Anatomical Abnormality 3 4 0.100 None 1.000 1 1 2018 2018
CUI: C4023125
Disease: Decreased activity of mitochondrial ATP synthase complex
Decreased activity of mitochondrial ATP synthase complex 		phenotype Finding 3 1 0.100 None 1.000 1 1 2018 2018
CUI: C1839437
Disease: Chronic lactic acidosis
Chronic lactic acidosis 		phenotype Nutritional and Metabolic Diseases Finding 4 3 0.100 None 1.000 1 1 2018 2018
CUI: C0265985
Disease: Mongolian Spot
Mongolian Spot 		disease Neoplasms Neoplastic Process 5 3 0.100 None 1.000 1 1 2018 2018
CUI: C1844917
Disease: Intermittent lactic acidemia
Intermittent lactic acidemia 		disease Nutritional and Metabolic Diseases Disease or Syndrome 5 3 0.100 None 1.000 1 1 2018 2018
CUI: C1859506
Disease: Acute hyperammonemia
Acute hyperammonemia 		phenotype Pathological Conditions, Signs and Symptoms Finding 5 1 0.100 None 1.000 1 1 2018 2018
CUI: C1859516
Disease: Episodic metabolic acidosis
Episodic metabolic acidosis 		phenotype Nutritional and Metabolic Diseases Finding 5 3 0.100 None 1.000 1 1 2018 2018
CUI: C4757950
Disease: Isolated ATP synthase deficiency
Isolated ATP synthase deficiency 		disease Disease or Syndrome 8 1 0.300 None 1.000 1 2018 2018
CUI: C0522055
Disease: Electrocardiogram abnormal
Electrocardiogram abnormal 		phenotype Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Finding 11 54 0.100 None 1.000 1 1 2018 2018
CUI: C4023343
Disease: Nasogastric tube feeding in infancy
Nasogastric tube feeding in infancy 		phenotype Finding 12 9 0.100 None 1.000 1 1 2018 2018
CUI: C0949856
Disease: Oxidative Phosphorylation Deficiencies
Oxidative Phosphorylation Deficiencies 		disease Nutritional and Metabolic Diseases Disease or Syndrome 18 1 0.010 None 1.000 1 1 2018 2018
CUI: C1855580
Disease: Exercise-induced muscle fatigue
Exercise-induced muscle fatigue 		phenotype Finding 18 3 0.100 None 1.000 1 1 2018 2018
CUI: C3696376
Disease: 3-Methylglutaconic Aciduria
3-Methylglutaconic Aciduria 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 20 1 0.100 None 0
CUI: C1096249
Disease: Calcification of the aorta
Calcification of the aorta 		phenotype Pathologic Function 21 0.200 None 1.000 1 2015 2015
CUI: C1844806
Disease: Weight less than 3rd percentile
Weight less than 3rd percentile 		phenotype Finding 22 27 0.100 None 1.000 1 1 2018 2018
CUI: C4025860
Disease: Hearing abnormality
Hearing abnormality 		disease Finding 24 5 0.100 None 1.000 1 1 2018 2018
CUI: C0018808
Disease: Heart murmur
Heart murmur 		phenotype Pathological Conditions, Signs and Symptoms Finding 31 10 0.100 None 1.000 1 1 2018 2018
CUI: C0035410
Disease: Rhabdomyolysis
Rhabdomyolysis 		phenotype Musculoskeletal Diseases Pathologic Function 36 15 0.100 None 1.000 1 1 2018 2018
CUI: C3665596
Disease: Warts
Warts 		disease Infections; Skin and Connective Tissue Diseases Neoplastic Process 39 3 0.100 None 1.000 1 1 2018 2018
CUI: C0158986
Disease: Neonatal hypoglycemia
Neonatal hypoglycemia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 55 13 0.100 None 1.000 1 1 2018 2018
CUI: C1836150
Disease: Gait imbalance
Gait imbalance 		phenotype Finding 57 24 0.100 None 0
CUI: C1836940
Disease: Thickened nuchal skin fold
Thickened nuchal skin fold 		phenotype Finding 58 4 0.100 None 1.000 1 1 2018 2018
CUI: C0232744
Disease: Decreased liver function
Decreased liver function 		phenotype Finding 59 5 0.100 None 1.000 1 1 2018 2018