ATP5F1D, ATP synthase F1 subunit delta, 513

N. diseases: 43; N. variants: 2
Source: CLINVAR ×
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 0 2 2018 2018
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		group Nutritional and Metabolic Diseases Disease or Syndrome 27 70 0.110 None 1.000 1 1 2018 2018
CUI: C4025790
Disease: Specific learning disability
Specific learning disability 		disease Mental or Behavioral Dysfunction 10 13 0.100 None 1.000 1 1 2018 2018
CUI: C1836940
Disease: Thickened nuchal skin fold
Thickened nuchal skin fold 		phenotype Finding 3 4 0.100 None 1.000 1 1 2018 2018
CUI: C1837142
Disease: Poor suck
Poor suck 		phenotype Finding 28 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 2 3 0.100 None 1.000 1 1 2018 2018
CUI: C1843108
Disease: Short palm
Short palm 		phenotype Finding 11 13 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 3 3 0.100 None 1.000 1 1 2018 2018
CUI: C1855580
Disease: Exercise-induced muscle fatigue
Exercise-induced muscle fatigue 		phenotype Finding 3 3 0.100 None 1.000 1 1 2018 2018
CUI: C1857679
Disease: Sloping forehead
Sloping forehead 		phenotype Finding 5 5 0.100 None 1.000 1 1 2018 2018
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 128 164 0.100 None 1.000 1 1 2018 2018
CUI: C4025860
Disease: Hearing abnormality
Hearing abnormality 		disease Finding 3 5 0.100 None 1.000 1 1 2018 2018
CUI: C1859516
Disease: Episodic metabolic acidosis
Episodic metabolic acidosis 		phenotype Nutritional and Metabolic Diseases Finding 2 3 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 89 118 0.100 None 1.000 1 1 2018 2018
CUI: C2674608
Disease: Feeding difficulties in infancy
Feeding difficulties in infancy 		phenotype Finding 18 22 0.100 None 1.000 1 1 2018 2018
CUI: C3665596
Disease: Warts
Warts 		disease Infections; Skin and Connective Tissue Diseases Neoplastic Process 2 3 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 1 1 0.100 None 1.000 1 1 2018 2018
CUI: C4023343
Disease: Nasogastric tube feeding in infancy
Nasogastric tube feeding in infancy 		phenotype Finding 7 9 0.100 None 1.000 1 1 2018 2018
CUI: C1859506
Disease: Acute hyperammonemia
Acute hyperammonemia 		phenotype Pathological Conditions, Signs and Symptoms Finding 1 1 0.100 None 1.000 1 1 2018 2018
CUI: C0575802
Disease: Small hand
Small hand 		phenotype Finding 24 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 5 54 0.100 None 1.000 1 1 2018 2018
CUI: C0035410
Disease: Rhabdomyolysis
Rhabdomyolysis 		phenotype Musculoskeletal Diseases Pathologic Function 13 14 0.100 None 1.000 1 1 2018 2018
CUI: C0027960
Disease: Nevus
Nevus 		disease Neoplasms Neoplastic Process 4 7 0.100 None 1.000 1 1 2018 2018