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
CUI: C0026826
Disease: Muscle Hypertonia
Muscle Hypertonia 		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: C0023380
Disease: Lethargy
Lethargy 		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: C0023212
Disease: Left-Sided Heart Failure
Left-Sided Heart Failure 		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: C0020615
Disease: Hypoglycemia
Hypoglycemia 		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: C0018808
Disease: Heart murmur
Heart murmur 		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: C0013274
Disease: Patent ductus arteriosus
Patent ductus arteriosus 		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: C0079924
Disease: Oligohydramnios
Oligohydramnios 		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: C0151526
Disease: Premature Birth
Premature Birth 		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: C0151786
Disease: Muscle Weakness
Muscle Weakness 		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: C0476369
Disease: Echocardiogram abnormal
Echocardiogram 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: C0349588
Disease: Short stature
Short stature 		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: C0265985
Disease: Mongolian Spot
Mongolian Spot 		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: C0262655
Disease: Recurrent urinary tract infection
Recurrent urinary tract infection 		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: C0232744
Disease: Decreased liver function
Decreased liver function 		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: C0232466
Disease: Feeding difficulties
Feeding difficulties 		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: C0221263
Disease: Cafe-au-Lait Spots
Cafe-au-Lait Spots 		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: C0158986
Disease: Neonatal hypoglycemia
Neonatal hypoglycemia 		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: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		group 0.100 None 1.000 1 1 2018 2018