ATP5F1D, ATP synthase F1 subunit delta, 513

N. diseases: 69; N. variants: 2
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4748269
Disease: MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 5
MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 5 		0.600 GeneticVariation disease UNIPROT Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder. 29478781 2018
CUI: C4748269
Disease: MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 5
MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 5 		0.600 Biomarker disease GENOMICS_ENGLAND Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder. 29478781 2018
CUI: C4748269
Disease: MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 5
MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 5 		0.600 CausalMutation disease CLINVAR
CUI: C4757950
Disease: Isolated ATP synthase deficiency
Isolated ATP synthase deficiency 		0.300 GermlineCausalMutation disease ORPHANET Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder. 29478781 2018
CUI: C0005684
Disease: Malignant neoplasm of urinary bladder
Malignant neoplasm of urinary bladder 		0.300 Biomarker disease CTD_human Identification of novel gene targets and putative regulators of arsenic-associated DNA methylation in human urothelial cells and bladder cancer. 26039340 2015
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm 		0.300 Biomarker disease CTD_human Identification of novel gene targets and putative regulators of arsenic-associated DNA methylation in human urothelial cells and bladder cancer. 26039340 2015
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		0.200 Biomarker disease RGD iTRAQ-Based Proteomic Analysis Reveals Recovery of Impaired Mitochondrial Function in Ischemic Myocardium by Shenmai Formula. 29300489 2018
CUI: C0028754
Disease: Obesity
Obesity 		0.200 Therapeutic disease RGD A combination of resveratrol and quercetin induces browning in white adipose tissue of rats fed an obesogenic diet. 27874268 2017
CUI: C0018800
Disease: Cardiomegaly
Cardiomegaly 		0.200 Therapeutic phenotype RGD Astragalus polysaccharide attenuates isoproterenol-induced cardiac hypertrophy by regulating TNF-α/PGC-1α signaling mediated energy biosynthesis. 25880160 2015
CUI: C0027055
Disease: Myocardial Reperfusion Injury
Myocardial Reperfusion Injury 		0.200 Therapeutic phenotype RGD Cardioprotection against ischemia/reperfusion injury by QiShenYiQi Pill® via ameliorate of multiple mitochondrial dysfunctions. 26109848 2015
CUI: C0149721
Disease: Left Ventricular Hypertrophy
Left Ventricular Hypertrophy 		0.200 Therapeutic disease RGD Astragaloside IV protects against isoproterenol-induced cardiac hypertrophy by regulating NF-κB/PGC-1α signaling mediated energy biosynthesis. 25738576 2015
CUI: C1096249
Disease: Calcification of the aorta
Calcification of the aorta 		0.200 Therapeutic phenotype RGD Calpain-1 Mediated Disorder of Pyrophosphate Metabolism Contributes to Vascular Calcification Induced by oxLDL. 26047104 2015
CUI: C0027055
Disease: Myocardial Reperfusion Injury
Myocardial Reperfusion Injury 		0.200 Biomarker phenotype RGD ROCK-dependent ATP5D modulation contributes to the protection of notoginsenoside NR1 against ischemia-reperfusion-induced myocardial injury. 25305180 2014
CUI: C0009319
Disease: Colitis
Colitis 		0.200 Therapeutic disease RGD Huang Qi Jian Zhong Pellet Attenuates TNBS-Induced Colitis in Rats via Mechanisms Involving Improvement of Energy Metabolism. 23840258 2013
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		0.200 Therapeutic disease RGD Astragaloside IV protects heart from ischemia and reperfusion injury via energy regulation mechanisms. 23809007 2013
CUI: C0220994
Disease: Hyperammonemia
Hyperammonemia 		0.110 GeneticVariation phenotype BEFREE Here, we describe two individuals, each with homozygous missense variants in ATP5F1D, who presented with episodic lethargy, metabolic acidosis, 3-methylglutaconic aciduria, and hyperammonemia. 29478781 2018
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		0.110 GeneticVariation group BEFREE 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
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		0.110 CausalMutation group CLINVAR Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder. 29478781 2018
CUI: C0220994
Disease: Hyperammonemia
Hyperammonemia 		0.110 Biomarker phenotype HPO
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.100 CausalMutation group CLINVAR Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder. 29478781 2018
CUI: C0013274
Disease: Patent ductus arteriosus
Patent ductus arteriosus 		0.100 CausalMutation disease CLINVAR Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder. 29478781 2018
CUI: C0018808
Disease: Heart murmur
Heart murmur 		0.100 CausalMutation phenotype CLINVAR Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder. 29478781 2018
CUI: C0020615
Disease: Hypoglycemia
Hypoglycemia 		0.100 CausalMutation disease CLINVAR Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder. 29478781 2018
CUI: C0023212
Disease: Left-Sided Heart Failure
Left-Sided Heart Failure 		0.100 CausalMutation disease CLINVAR Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder. 29478781 2018
CUI: C0023380
Disease: Lethargy
Lethargy 		0.100 CausalMutation phenotype CLINVAR Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder. 29478781 2018