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: C0027055
Disease: Myocardial Reperfusion Injury
Myocardial Reperfusion Injury 		phenotype Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Pathologic Function 226 0.200 None 1.000 2 2014 2015
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 1800 680 0.200 None 1.000 2 2013 2018
CUI: C4025860
Disease: Hearing abnormality
Hearing abnormality 		disease Finding 24 5 0.100 None 1.000 1 1 2018 2018
CUI: C1843108
Disease: Short palm
Short palm 		phenotype Finding 110 13 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: C1837142
Disease: Poor suck
Poor suck 		phenotype Finding 103 31 0.100 None 1.000 1 1 2018 2018
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: C1096249
Disease: Calcification of the aorta
Calcification of the aorta 		phenotype Pathologic Function 21 0.200 None 1.000 1 2015 2015
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: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		group Nutritional and Metabolic Diseases Disease or Syndrome 284 84 0.110 None 1.000 1 2 2018 2018
CUI: C0575802
Disease: Small hand
Small hand 		phenotype Finding 108 31 0.100 None 1.000 1 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: C0476369
Disease: Echocardiogram abnormal
Echocardiogram abnormal 		phenotype Finding 3 1 0.100 None 1.000 1 1 2018 2018
CUI: C0349588
Disease: Short stature
Short stature 		phenotype Finding 1127 292 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: 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: 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: 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: C4025790
Disease: Specific learning disability
Specific learning disability 		disease Mental or Behavioral Dysfunction 165 13 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: 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: 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: 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: C2674608
Disease: Feeding difficulties in infancy
Feeding difficulties in infancy 		phenotype Finding 305 22 0.100 None 1.000 1 1 2018 2018
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive 		disease Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Mental Disorders Disease or Syndrome 166 122 0.100 None 1.000 1 1 2018 2018