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.
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: C4757950
Disease: Isolated ATP synthase deficiency
Isolated ATP synthase deficiency
disease Disease or Syndrome 8 1 0.300 None 1.000 1 2018 2018
Malignant neoplasm of urinary bladder
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 2113 316 0.300 None 1.000 1 2015 2015
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 2130 281 0.300 None 1.000 1 2015 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: 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: C0018800
Disease: Cardiomegaly
Cardiomegaly
phenotype Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Finding 267 11 0.200 None 1.000 1 2015 2015
CUI: C1096249
Disease: Calcification of the aorta
Calcification of the aorta
phenotype Pathologic Function 21 0.200 None 1.000 1 2015 2015
CUI: C0009319
Disease: Colitis
Colitis
disease Digestive System Diseases Disease or Syndrome 1135 15 0.200 None 1.000 1 2013 2013
CUI: C0028754
Disease: Obesity
Obesity
disease Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases Disease or Syndrome 2821 1111 0.200 None 1.000 1 2017 2017
CUI: C0149721
Disease: Left Ventricular Hypertrophy
Left Ventricular Hypertrophy
disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 403 67 0.200 None 1.000 1 2015 2015
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: C0220994
Disease: Hyperammonemia
Hyperammonemia
phenotype Pathological Conditions, Signs and Symptoms Disease or Syndrome 102 8 0.110 None 1.000 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: 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: 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: C1843108
Disease: Short palm
Short palm
phenotype Finding 110 13 0.100 None 1.000 1 1 2018 2018
CUI: C0575802
Disease: Small hand
Small hand
phenotype Finding 108 31 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: C1836940
Disease: Thickened nuchal skin fold
Thickened nuchal skin fold
phenotype Finding 58 4 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: C1857679
Disease: Sloping forehead
Sloping forehead
phenotype Finding 149 5 0.100 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: C4025860
Disease: Hearing abnormality
Hearing abnormality
disease Finding 24 5 0.100 None 1.000 1 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