Disease Browser            Parent Node: mitochondrial complex deficiency (MONDO:0000066) Parent Node: mitochondrial proton-transporting ATP synthase complex deficiency (MONDO:0014471) ..Starting node ..mitochondrial complex V (ATP synthase) deficiency nuclear type 4 ()        Child Nodes:  Sister Nodes:  ..combined oxidative phosphorylation deficiency 22 () ..mitochondrial complex V (ATP synthase) deficiency nuclear type 3 ()    L: 00025; ..mitochondrial complex V (ATP synthase) deficiency nuclear type 4 ()    L: 00010; ..mitochondrial complex V (ATP synthase) deficiency, nuclear type 1 ()    L: 00023;     MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

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SELECT t5.Variation_Name, t5.GeneID, t5.GeneSymbol, t5.ClinicalSignificance, t5.dbSNP, t5.RCVaccession, t5.TestedInGTR, t5.PhenotypeIDs, t5.Chromosome, t5.Start, t5.Stop, t5.HGVS_c, t5.HGVS_p, t5.HGVS_g, t5.OtherIDs, t5.Diseases as Disease_ClinVar FROM gb_exome.clinvar_variation_v2_latest as t5 WHERE Assembly ='GRCh37' AND (t5.PhenotypeIDs like '%:615228%' OR t5.otherIDs like '%OMIM Allelic Variant:615228%' ) ORDER by GeneSymbol, t5.ClinicalSignificance LIKE 'Patho%' DESC, t5.ClinicalSignificance LIKE '%likely pathog%' DESC, start <1,start;

Term ID:	14091
Name:	mitochondrial complex V (ATP synthase) deficiency nuclear type 4
Definition:	Any mitochondrial complex deficiency in which the cause of the disease is a mutation in the ATP5F1A gene.
Alternative IDs:	615228
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Synonyms:	ATP5F1A mitochondrial complex deficiency; MC5DN4; mitochondrial Complex 5 (ATP synthase) deficiency, Atp5A1 type; mitochondrial Complex 5 (ATP synthase) deficiency, nuclear type 4; mitochondrial complex deficiency caused by mutation in ATP5F1A; mitochondrial complex V (ATP synthase) deficiency, nucl
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Reference:	MedGen: MeSH: OMIM: 615228; MSeqDR : 00010;   Genes: ATP5A1;