Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1555745989
rs1555745989
ATP5F1D
CUI: C4748269
Disease: MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 5
MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 5 		G 0.800 CausalMutation CLINVAR

dbSNP: rs867410737
rs867410737
ATP5F1D
CUI: C4748269
Disease: MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 5
MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 5 		T 0.800 CausalMutation CLINVAR

dbSNP: rs1555745989
rs1555745989
ATP5F1D
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		G 0.710 CausalMutation CLINVAR Our data establish c.245C>T (p.Pro82Leu) and c.317T>G (p.Val106Gly) in ATP5F1D as pathogenic variants leading to a Mendelian mitochondrial disease featuring episodic metabolic decompensation. 29478781

2018
dbSNP: rs867410737
rs867410737
ATP5F1D
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		T 0.700 CausalMutation CLINVAR Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder. 29478781

2018
dbSNP: rs867410737
rs867410737
ATP5F1D
CUI: C0151526
Disease: Premature Birth
Premature Birth 		T 0.700 CausalMutation CLINVAR Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder. 29478781

2018
dbSNP: rs867410737
rs867410737
ATP5F1D
CUI: C0023212
Disease: Left-Sided Heart Failure
Left-Sided Heart Failure 		T 0.700 CausalMutation CLINVAR Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder. 29478781

2018
dbSNP: rs867410737
rs867410737
ATP5F1D
CUI: C0026826
Disease: Muscle Hypertonia
Muscle Hypertonia 		T 0.700 CausalMutation CLINVAR Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder. 29478781

2018
dbSNP: rs867410737
rs867410737
ATP5F1D
CUI: C0035410
Disease: Rhabdomyolysis
Rhabdomyolysis 		T 0.700 CausalMutation CLINVAR Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder. 29478781

2018
dbSNP: rs867410737
rs867410737
ATP5F1D
CUI: C0265985
Disease: Mongolian Spot
Mongolian Spot 		T 0.700 CausalMutation CLINVAR Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder. 29478781

2018
dbSNP: rs867410737
rs867410737
ATP5F1D
CUI: C0013274
Disease: Patent ductus arteriosus
Patent ductus arteriosus 		T 0.700 CausalMutation CLINVAR Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder. 29478781

2018
dbSNP: rs867410737
rs867410737
ATP5F1D
CUI: C1836940
Disease: Thickened nuchal skin fold
Thickened nuchal skin fold 		T 0.700 CausalMutation CLINVAR Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder. 29478781

2018
dbSNP: rs867410737
rs867410737
ATP5F1D
CUI: C1859516
Disease: Episodic metabolic acidosis
Episodic metabolic acidosis 		T 0.700 CausalMutation CLINVAR Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder. 29478781

2018
dbSNP: rs867410737
rs867410737
ATP5F1D
CUI: C2674608
Disease: Feeding difficulties in infancy
Feeding difficulties in infancy 		T 0.700 CausalMutation CLINVAR Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder. 29478781

2018
dbSNP: rs867410737
rs867410737
ATP5F1D
CUI: C0476369
Disease: Echocardiogram abnormal
Echocardiogram abnormal 		T 0.700 CausalMutation CLINVAR Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder. 29478781

2018
dbSNP: rs867410737
rs867410737
ATP5F1D
CUI: C1839437
Disease: Chronic lactic acidosis
Chronic lactic acidosis 		T 0.700 CausalMutation CLINVAR Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder. 29478781

2018
dbSNP: rs867410737
rs867410737
ATP5F1D
CUI: C1857679
Disease: Sloping forehead
Sloping forehead 		T 0.700 CausalMutation CLINVAR Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder. 29478781

2018
dbSNP: rs867410737
rs867410737
ATP5F1D
CUI: C1844806
Disease: Weight less than 3rd percentile
Weight less than 3rd percentile 		T 0.700 CausalMutation CLINVAR Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder. 29478781

2018
dbSNP: rs867410737
rs867410737
ATP5F1D
CUI: C0232744
Disease: Decreased liver function
Decreased liver function 		T 0.700 CausalMutation CLINVAR Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder. 29478781

2018
dbSNP: rs867410737
rs867410737
ATP5F1D
CUI: C1837142
Disease: Poor suck
Poor suck 		T 0.700 CausalMutation CLINVAR Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder. 29478781

2018
dbSNP: rs867410737
rs867410737
ATP5F1D
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		T 0.700 CausalMutation CLINVAR Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder. 29478781

2018
dbSNP: rs867410737
rs867410737
ATP5F1D
CUI: C1844917
Disease: Intermittent lactic acidemia
Intermittent lactic acidemia 		T 0.700 CausalMutation CLINVAR Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder. 29478781

2018
dbSNP: rs867410737
rs867410737
ATP5F1D
CUI: C0018808
Disease: Heart murmur
Heart murmur 		T 0.700 CausalMutation CLINVAR Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder. 29478781

2018
dbSNP: rs867410737
rs867410737
ATP5F1D
CUI: C0079924
Disease: Oligohydramnios
Oligohydramnios 		T 0.700 CausalMutation CLINVAR Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder. 29478781

2018
dbSNP: rs867410737
rs867410737
ATP5F1D
CUI: C0023380
Disease: Lethargy
Lethargy 		T 0.700 CausalMutation CLINVAR Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder. 29478781

2018
dbSNP: rs867410737
rs867410737
ATP5F1D
CUI: C0522055
Disease: Electrocardiogram abnormal
Electrocardiogram abnormal 		T 0.700 CausalMutation CLINVAR Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder. 29478781

2018