Source: CLINVAR

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 513
Gene Symbol: ATP5F1D
ATP5F1D
ATP synthase F1 subunit delta 0.674 0.500 7.4E-02
MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 5
disease 0.600 strong 1.000 0 2 2018 2018
Entrez Id: 513
Gene Symbol: ATP5F1D
ATP5F1D
ATP synthase F1 subunit delta 0.674 0.500 7.4E-02
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases
group 0.110 None 1.000 1 1 2018 2018
Entrez Id: 513
Gene Symbol: ATP5F1D
ATP5F1D
ATP synthase F1 subunit delta 0.674 0.500 7.4E-02
CUI: C4025790
Disease: Specific learning disability
Specific learning disability
disease 0.100 None 1.000 1 1 2018 2018
Entrez Id: 513
Gene Symbol: ATP5F1D
ATP5F1D
ATP synthase F1 subunit delta 0.674 0.500 7.4E-02
CUI: C1836940
Disease: Thickened nuchal skin fold
Thickened nuchal skin fold
phenotype 0.100 None 1.000 1 1 2018 2018
Entrez Id: 513
Gene Symbol: ATP5F1D
ATP5F1D
ATP synthase F1 subunit delta 0.674 0.500 7.4E-02
CUI: C1837142
Disease: Poor suck
Poor suck
phenotype 0.100 None 1.000 1 1 2018 2018
Entrez Id: 513
Gene Symbol: ATP5F1D
ATP5F1D
ATP synthase F1 subunit delta 0.674 0.500 7.4E-02
CUI: C1839437
Disease: Chronic lactic acidosis
Chronic lactic acidosis
phenotype 0.100 None 1.000 1 1 2018 2018
Entrez Id: 513
Gene Symbol: ATP5F1D
ATP5F1D
ATP synthase F1 subunit delta 0.674 0.500 7.4E-02
CUI: C1843108
Disease: Short palm
Short palm
phenotype 0.100 None 1.000 1 1 2018 2018
Entrez Id: 513
Gene Symbol: ATP5F1D
ATP5F1D
ATP synthase F1 subunit delta 0.674 0.500 7.4E-02
CUI: C1844806
Disease: Weight less than 3rd percentile
Weight less than 3rd percentile
phenotype 0.100 None 1.000 1 1 2018 2018
Entrez Id: 513
Gene Symbol: ATP5F1D
ATP5F1D
ATP synthase F1 subunit delta 0.674 0.500 7.4E-02
CUI: C1844917
Disease: Intermittent lactic acidemia
Intermittent lactic acidemia
disease 0.100 None 1.000 1 1 2018 2018
Entrez Id: 513
Gene Symbol: ATP5F1D
ATP5F1D
ATP synthase F1 subunit delta 0.674 0.500 7.4E-02
CUI: C1855580
Disease: Exercise-induced muscle fatigue
Exercise-induced muscle fatigue
phenotype 0.100 None 1.000 1 1 2018 2018
Entrez Id: 513
Gene Symbol: ATP5F1D
ATP5F1D
ATP synthase F1 subunit delta 0.674 0.500 7.4E-02
CUI: C1857679
Disease: Sloping forehead
Sloping forehead
phenotype 0.100 None 1.000 1 1 2018 2018
Entrez Id: 513
Gene Symbol: ATP5F1D
ATP5F1D
ATP synthase F1 subunit delta 0.674 0.500 7.4E-02
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
phenotype 0.100 None 1.000 1 1 2018 2018
Entrez Id: 513
Gene Symbol: ATP5F1D
ATP5F1D
ATP synthase F1 subunit delta 0.674 0.500 7.4E-02
CUI: C4025860
Disease: Hearing abnormality
Hearing abnormality
disease 0.100 None 1.000 1 1 2018 2018
Entrez Id: 513
Gene Symbol: ATP5F1D
ATP5F1D
ATP synthase F1 subunit delta 0.674 0.500 7.4E-02
CUI: C1859516
Disease: Episodic metabolic acidosis
Episodic metabolic acidosis
phenotype 0.100 None 1.000 1 1 2018 2018
Entrez Id: 513
Gene Symbol: ATP5F1D
ATP5F1D
ATP synthase F1 subunit delta 0.674 0.500 7.4E-02
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive
disease 0.100 None 1.000 1 1 2018 2018
Entrez Id: 513
Gene Symbol: ATP5F1D
ATP5F1D
ATP synthase F1 subunit delta 0.674 0.500 7.4E-02
CUI: C2674608
Disease: Feeding difficulties in infancy
Feeding difficulties in infancy
phenotype 0.100 None 1.000 1 1 2018 2018
Entrez Id: 513
Gene Symbol: ATP5F1D
ATP5F1D
ATP synthase F1 subunit delta 0.674 0.500 7.4E-02
CUI: C3665596
Disease: Warts
Warts
disease 0.100 None 1.000 1 1 2018 2018
Entrez Id: 513
Gene Symbol: ATP5F1D
ATP5F1D
ATP synthase F1 subunit delta 0.674 0.500 7.4E-02
Abnormality of the subarachnoid space
phenotype 0.100 None 1.000 1 1 2018 2018
Entrez Id: 513
Gene Symbol: ATP5F1D
ATP5F1D
ATP synthase F1 subunit delta 0.674 0.500 7.4E-02
Decreased activity of mitochondrial ATP synthase complex
phenotype 0.100 None 1.000 1 1 2018 2018
Entrez Id: 513
Gene Symbol: ATP5F1D
ATP5F1D
ATP synthase F1 subunit delta 0.674 0.500 7.4E-02
CUI: C4023343
Disease: Nasogastric tube feeding in infancy
Nasogastric tube feeding in infancy
phenotype 0.100 None 1.000 1 1 2018 2018
Entrez Id: 513
Gene Symbol: ATP5F1D
ATP5F1D
ATP synthase F1 subunit delta 0.674 0.500 7.4E-02
CUI: C1859506
Disease: Acute hyperammonemia
Acute hyperammonemia
phenotype 0.100 None 1.000 1 1 2018 2018
Entrez Id: 513
Gene Symbol: ATP5F1D
ATP5F1D
ATP synthase F1 subunit delta 0.674 0.500 7.4E-02
CUI: C0575802
Disease: Small hand
Small hand
phenotype 0.100 None 1.000 1 1 2018 2018
Entrez Id: 513
Gene Symbol: ATP5F1D
ATP5F1D
ATP synthase F1 subunit delta 0.674 0.500 7.4E-02
CUI: C0522055
Disease: Electrocardiogram abnormal
Electrocardiogram abnormal
phenotype 0.100 None 1.000 1 1 2018 2018
Entrez Id: 513
Gene Symbol: ATP5F1D
ATP5F1D
ATP synthase F1 subunit delta 0.674 0.500 7.4E-02
CUI: C0035410
Disease: Rhabdomyolysis
Rhabdomyolysis
phenotype 0.100 None 1.000 1 1 2018 2018
Entrez Id: 513
Gene Symbol: ATP5F1D
ATP5F1D
ATP synthase F1 subunit delta 0.674 0.500 7.4E-02
CUI: C0027960
Disease: Nevus
Nevus
disease 0.100 None 1.000 1 1 2018 2018