Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	57017
Gene name	Coenzyme Q9
Gene symbol	COQ9
Synonyms (NCBI Gene)	C16orf49COQ10D5
Chromosome	16
Chromosome location	16q21
Summary	This locus represents a mitochondrial ubiquinone biosynthesis gene. The encoded protein is likely necessary for biosynthesis of coenzyme Q10, as mutations at this locus have been associated with autosomal-recessive neonatal-onset primary coenzyme Q10 defi

Show/Hide all (7)

SNP ID	Visualize variation	Clinical significance	Consequence
rs11547480	T>G	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant
rs76508383	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs143587648	C>G,T	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, missense variant
rs267606751	C>T	Pathogenic	Stop gained, coding sequence variant
rs547254482	T>C	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs757251412	C>G,T	Likely-pathogenic, likely-benign	Missense variant, coding sequence variant
rs786205897	G>-	Pathogenic	Splice donor variant

298

Show/Hide all (298)

miRTarBase ID	miRNA	Experiments	Reference
MIRT029756	hsa-miR-26b-5p	Microarray	19088304
MIRT904501	hsa-miR-1193	CLIP-seq
MIRT904502	hsa-miR-1197	CLIP-seq
MIRT904503	hsa-miR-1266	CLIP-seq
MIRT904504	hsa-miR-1289	CLIP-seq
MIRT904505	hsa-miR-1305	CLIP-seq
MIRT904506	hsa-miR-148a	CLIP-seq
MIRT904507	hsa-miR-148b	CLIP-seq
MIRT904508	hsa-miR-152	CLIP-seq
MIRT904509	hsa-miR-154	CLIP-seq
MIRT904510	hsa-miR-183	CLIP-seq
MIRT904511	hsa-miR-1915	CLIP-seq
MIRT904512	hsa-miR-2117	CLIP-seq
MIRT904513	hsa-miR-298	CLIP-seq
MIRT904514	hsa-miR-299-3p	CLIP-seq
MIRT904515	hsa-miR-3184	CLIP-seq
MIRT904516	hsa-miR-330-3p	CLIP-seq
MIRT904517	hsa-miR-3591-3p	CLIP-seq
MIRT904518	hsa-miR-3591-5p	CLIP-seq
MIRT904519	hsa-miR-3622a-3p	CLIP-seq
MIRT904520	hsa-miR-3622b-3p	CLIP-seq
MIRT904521	hsa-miR-3664-3p	CLIP-seq
MIRT904522	hsa-miR-3691-5p	CLIP-seq
MIRT904523	hsa-miR-377	CLIP-seq
MIRT904524	hsa-miR-3910	CLIP-seq
MIRT904525	hsa-miR-423-5p	CLIP-seq
MIRT904526	hsa-miR-4273	CLIP-seq
MIRT904527	hsa-miR-4283	CLIP-seq
MIRT904528	hsa-miR-4324	CLIP-seq
MIRT904529	hsa-miR-4433	CLIP-seq
MIRT904530	hsa-miR-4436a	CLIP-seq
MIRT904531	hsa-miR-4459	CLIP-seq
MIRT904532	hsa-miR-4491	CLIP-seq
MIRT904533	hsa-miR-4518	CLIP-seq
MIRT904534	hsa-miR-4536	CLIP-seq
MIRT904535	hsa-miR-4657	CLIP-seq
MIRT904536	hsa-miR-4705	CLIP-seq
MIRT904537	hsa-miR-4711-5p	CLIP-seq
MIRT904538	hsa-miR-4726-3p	CLIP-seq
MIRT904539	hsa-miR-4733-3p	CLIP-seq
MIRT904540	hsa-miR-4752	CLIP-seq
MIRT904541	hsa-miR-4768-3p	CLIP-seq
MIRT904542	hsa-miR-510	CLIP-seq
MIRT904543	hsa-miR-548an	CLIP-seq
MIRT904544	hsa-miR-607	CLIP-seq
MIRT904545	hsa-miR-648	CLIP-seq
MIRT904546	hsa-miR-873	CLIP-seq
MIRT1968174	hsa-miR-1225-3p	CLIP-seq
MIRT1968175	hsa-miR-1236	CLIP-seq
MIRT1968176	hsa-miR-1256	CLIP-seq
MIRT1968177	hsa-miR-125a-5p	CLIP-seq
MIRT1968178	hsa-miR-125b	CLIP-seq
MIRT904505	hsa-miR-1305	CLIP-seq
MIRT904506	hsa-miR-148a	CLIP-seq
MIRT904507	hsa-miR-148b	CLIP-seq
MIRT1968179	hsa-miR-149	CLIP-seq
MIRT904508	hsa-miR-152	CLIP-seq
MIRT1968180	hsa-miR-208a	CLIP-seq
MIRT1968181	hsa-miR-208b	CLIP-seq
MIRT1968182	hsa-miR-21	CLIP-seq
MIRT1968183	hsa-miR-2276	CLIP-seq
MIRT904513	hsa-miR-298	CLIP-seq
MIRT1968184	hsa-miR-3064-5p	CLIP-seq
MIRT1968185	hsa-miR-3144-3p	CLIP-seq
MIRT1968186	hsa-miR-3188	CLIP-seq
MIRT1968187	hsa-miR-3617	CLIP-seq
MIRT1968188	hsa-miR-3689a-3p	CLIP-seq
MIRT1968189	hsa-miR-3689c	CLIP-seq
MIRT904523	hsa-miR-377	CLIP-seq
MIRT904524	hsa-miR-3910	CLIP-seq
MIRT1968190	hsa-miR-4300	CLIP-seq
MIRT1968191	hsa-miR-4319	CLIP-seq
MIRT1968192	hsa-miR-4323	CLIP-seq
MIRT904529	hsa-miR-4433	CLIP-seq
MIRT904531	hsa-miR-4459	CLIP-seq
MIRT1968193	hsa-miR-4475	CLIP-seq
MIRT1968194	hsa-miR-4490	CLIP-seq
MIRT1968195	hsa-miR-4522	CLIP-seq
MIRT1968196	hsa-miR-4527	CLIP-seq
MIRT1968197	hsa-miR-4690-3p	CLIP-seq
MIRT1968198	hsa-miR-4695-5p	CLIP-seq
MIRT904536	hsa-miR-4705	CLIP-seq
MIRT1968199	hsa-miR-4708-3p	CLIP-seq
MIRT904537	hsa-miR-4711-5p	CLIP-seq
MIRT1968200	hsa-miR-4732-3p	CLIP-seq
MIRT1968201	hsa-miR-4747-5p	CLIP-seq
MIRT1968202	hsa-miR-4753-3p	CLIP-seq
MIRT904541	hsa-miR-4768-3p	CLIP-seq
MIRT1968203	hsa-miR-4774-5p	CLIP-seq
MIRT1968204	hsa-miR-4794	CLIP-seq
MIRT1968205	hsa-miR-499-5p	CLIP-seq
MIRT904543	hsa-miR-548an	CLIP-seq
MIRT1968206	hsa-miR-572	CLIP-seq
MIRT1968207	hsa-miR-590-5p	CLIP-seq
MIRT1968208	hsa-miR-641	CLIP-seq
MIRT1968209	hsa-miR-645	CLIP-seq
MIRT1968210	hsa-miR-670	CLIP-seq
MIRT1968211	hsa-miR-920	CLIP-seq
MIRT1968174	hsa-miR-1225-3p	CLIP-seq
MIRT1968175	hsa-miR-1236	CLIP-seq
MIRT1968176	hsa-miR-1256	CLIP-seq
MIRT2204092	hsa-miR-138	CLIP-seq
MIRT904506	hsa-miR-148a	CLIP-seq
MIRT904507	hsa-miR-148b	CLIP-seq
MIRT1968179	hsa-miR-149	CLIP-seq
MIRT904508	hsa-miR-152	CLIP-seq
MIRT1968180	hsa-miR-208a	CLIP-seq
MIRT1968181	hsa-miR-208b	CLIP-seq
MIRT1968182	hsa-miR-21	CLIP-seq
MIRT904513	hsa-miR-298	CLIP-seq
MIRT1968184	hsa-miR-3064-5p	CLIP-seq
MIRT2204093	hsa-miR-3136-5p	CLIP-seq
MIRT1968186	hsa-miR-3188	CLIP-seq
MIRT904518	hsa-miR-3591-5p	CLIP-seq
MIRT2204094	hsa-miR-3607-5p	CLIP-seq
MIRT1968187	hsa-miR-3617	CLIP-seq
MIRT904521	hsa-miR-3664-3p	CLIP-seq
MIRT1968188	hsa-miR-3689a-3p	CLIP-seq
MIRT1968189	hsa-miR-3689c	CLIP-seq
MIRT904523	hsa-miR-377	CLIP-seq
MIRT904524	hsa-miR-3910	CLIP-seq
MIRT2204095	hsa-miR-3914	CLIP-seq
MIRT1968190	hsa-miR-4300	CLIP-seq
MIRT1968192	hsa-miR-4323	CLIP-seq
MIRT904529	hsa-miR-4433	CLIP-seq
MIRT2204096	hsa-miR-4439	CLIP-seq
MIRT904531	hsa-miR-4459	CLIP-seq
MIRT2204097	hsa-miR-4474-3p	CLIP-seq
MIRT1968193	hsa-miR-4475	CLIP-seq
MIRT1968194	hsa-miR-4490	CLIP-seq
MIRT2204098	hsa-miR-4501	CLIP-seq
MIRT2204099	hsa-miR-4504	CLIP-seq
MIRT1968195	hsa-miR-4522	CLIP-seq
MIRT1968196	hsa-miR-4527	CLIP-seq
MIRT2204100	hsa-miR-4652-3p	CLIP-seq
MIRT1968198	hsa-miR-4695-5p	CLIP-seq
MIRT904537	hsa-miR-4711-5p	CLIP-seq
MIRT2204101	hsa-miR-4731-5p	CLIP-seq
MIRT1968201	hsa-miR-4747-5p	CLIP-seq
MIRT1968202	hsa-miR-4753-3p	CLIP-seq
MIRT904541	hsa-miR-4768-3p	CLIP-seq
MIRT1968203	hsa-miR-4774-5p	CLIP-seq
MIRT1968204	hsa-miR-4794	CLIP-seq
MIRT1968205	hsa-miR-499-5p	CLIP-seq
MIRT2204102	hsa-miR-500a	CLIP-seq
MIRT2204103	hsa-miR-542-3p	CLIP-seq
MIRT904543	hsa-miR-548an	CLIP-seq
MIRT1968207	hsa-miR-590-5p	CLIP-seq
MIRT2204104	hsa-miR-629	CLIP-seq
MIRT1968208	hsa-miR-641	CLIP-seq
MIRT1968209	hsa-miR-645	CLIP-seq
MIRT904545	hsa-miR-648	CLIP-seq
MIRT2204105	hsa-miR-758	CLIP-seq
MIRT1968211	hsa-miR-920	CLIP-seq
MIRT2204106	hsa-miR-943	CLIP-seq
MIRT1968177	hsa-miR-125a-5p	CLIP-seq
MIRT1968178	hsa-miR-125b	CLIP-seq
MIRT1968191	hsa-miR-4319	CLIP-seq
MIRT1968197	hsa-miR-4690-3p	CLIP-seq
MIRT1968200	hsa-miR-4732-3p	CLIP-seq
MIRT1968210	hsa-miR-670	CLIP-seq
MIRT2436426	hsa-miR-1228	CLIP-seq
MIRT2436427	hsa-miR-198	CLIP-seq
MIRT1968174	hsa-miR-1225-3p	CLIP-seq
MIRT2436426	hsa-miR-1228	CLIP-seq
MIRT2507482	hsa-miR-1254	CLIP-seq
MIRT2507483	hsa-miR-1255a	CLIP-seq
MIRT2507484	hsa-miR-1255b	CLIP-seq
MIRT2507485	hsa-miR-125a-3p	CLIP-seq
MIRT904503	hsa-miR-1266	CLIP-seq
MIRT1968179	hsa-miR-149	CLIP-seq
MIRT2507486	hsa-miR-1827	CLIP-seq
MIRT2507487	hsa-miR-18a	CLIP-seq
MIRT2507488	hsa-miR-18b	CLIP-seq
MIRT2436427	hsa-miR-198	CLIP-seq
MIRT1968180	hsa-miR-208a	CLIP-seq
MIRT1968181	hsa-miR-208b	CLIP-seq
MIRT2507489	hsa-miR-214	CLIP-seq
MIRT2507490	hsa-miR-2682	CLIP-seq
MIRT1968184	hsa-miR-3064-5p	CLIP-seq
MIRT2507491	hsa-miR-3116	CLIP-seq
MIRT2204093	hsa-miR-3136-5p	CLIP-seq
MIRT904515	hsa-miR-3184	CLIP-seq
MIRT2507492	hsa-miR-338-3p	CLIP-seq
MIRT1968187	hsa-miR-3617	CLIP-seq
MIRT2507493	hsa-miR-3619-5p	CLIP-seq
MIRT904521	hsa-miR-3664-3p	CLIP-seq
MIRT1968188	hsa-miR-3689a-3p	CLIP-seq
MIRT1968189	hsa-miR-3689c	CLIP-seq
MIRT2507494	hsa-miR-3934	CLIP-seq
MIRT904525	hsa-miR-423-5p	CLIP-seq
MIRT2507495	hsa-miR-4269	CLIP-seq
MIRT904527	hsa-miR-4283	CLIP-seq
MIRT1968190	hsa-miR-4300	CLIP-seq
MIRT2507496	hsa-miR-4303	CLIP-seq
MIRT2507497	hsa-miR-4316	CLIP-seq
MIRT1968192	hsa-miR-4323	CLIP-seq
MIRT2507498	hsa-miR-4328	CLIP-seq
MIRT2204096	hsa-miR-4439	CLIP-seq
MIRT2204097	hsa-miR-4474-3p	CLIP-seq
MIRT1968193	hsa-miR-4475	CLIP-seq
MIRT2507499	hsa-miR-449c	CLIP-seq
MIRT2204099	hsa-miR-4504	CLIP-seq
MIRT904533	hsa-miR-4518	CLIP-seq
MIRT1968195	hsa-miR-4522	CLIP-seq
MIRT2507500	hsa-miR-4530	CLIP-seq
MIRT2507501	hsa-miR-4641	CLIP-seq
MIRT2507502	hsa-miR-4649-3p	CLIP-seq
MIRT2507503	hsa-miR-4650-5p	CLIP-seq
MIRT2204100	hsa-miR-4652-3p	CLIP-seq
MIRT2507504	hsa-miR-4690-5p	CLIP-seq
MIRT2507505	hsa-miR-4710	CLIP-seq
MIRT2204101	hsa-miR-4731-5p	CLIP-seq
MIRT904539	hsa-miR-4733-3p	CLIP-seq
MIRT2507506	hsa-miR-4735-3p	CLIP-seq
MIRT1968201	hsa-miR-4747-5p	CLIP-seq
MIRT2507507	hsa-miR-4761-5p	CLIP-seq
MIRT2507508	hsa-miR-4762-3p	CLIP-seq
MIRT1968204	hsa-miR-4794	CLIP-seq
MIRT1968205	hsa-miR-499-5p	CLIP-seq
MIRT2204103	hsa-miR-542-3p	CLIP-seq
MIRT2204104	hsa-miR-629	CLIP-seq
MIRT1968208	hsa-miR-641	CLIP-seq
MIRT2204105	hsa-miR-758	CLIP-seq
MIRT2507509	hsa-miR-761	CLIP-seq
MIRT2507510	hsa-miR-764	CLIP-seq
MIRT1968211	hsa-miR-920	CLIP-seq
MIRT2204106	hsa-miR-943	CLIP-seq
MIRT1968174	hsa-miR-1225-3p	CLIP-seq
MIRT2436426	hsa-miR-1228	CLIP-seq
MIRT2507482	hsa-miR-1254	CLIP-seq
MIRT2507483	hsa-miR-1255a	CLIP-seq
MIRT2507484	hsa-miR-1255b	CLIP-seq
MIRT2507485	hsa-miR-125a-3p	CLIP-seq
MIRT904503	hsa-miR-1266	CLIP-seq
MIRT1968179	hsa-miR-149	CLIP-seq
MIRT2507486	hsa-miR-1827	CLIP-seq
MIRT2507487	hsa-miR-18a	CLIP-seq
MIRT2507488	hsa-miR-18b	CLIP-seq
MIRT904511	hsa-miR-1915	CLIP-seq
MIRT2436427	hsa-miR-198	CLIP-seq
MIRT1968180	hsa-miR-208a	CLIP-seq
MIRT1968181	hsa-miR-208b	CLIP-seq
MIRT2507489	hsa-miR-214	CLIP-seq
MIRT2507490	hsa-miR-2682	CLIP-seq
MIRT1968184	hsa-miR-3064-5p	CLIP-seq
MIRT2507491	hsa-miR-3116	CLIP-seq
MIRT2204093	hsa-miR-3136-5p	CLIP-seq
MIRT904515	hsa-miR-3184	CLIP-seq
MIRT2678484	hsa-miR-3185	CLIP-seq
MIRT2507492	hsa-miR-338-3p	CLIP-seq
MIRT1968187	hsa-miR-3617	CLIP-seq
MIRT2507493	hsa-miR-3619-5p	CLIP-seq
MIRT904521	hsa-miR-3664-3p	CLIP-seq
MIRT1968188	hsa-miR-3689a-3p	CLIP-seq
MIRT1968189	hsa-miR-3689c	CLIP-seq
MIRT2204095	hsa-miR-3914	CLIP-seq
MIRT2507494	hsa-miR-3934	CLIP-seq
MIRT904525	hsa-miR-423-5p	CLIP-seq
MIRT2507495	hsa-miR-4269	CLIP-seq
MIRT904527	hsa-miR-4283	CLIP-seq
MIRT1968190	hsa-miR-4300	CLIP-seq
MIRT2507496	hsa-miR-4303	CLIP-seq
MIRT2507497	hsa-miR-4316	CLIP-seq
MIRT1968192	hsa-miR-4323	CLIP-seq
MIRT2507498	hsa-miR-4328	CLIP-seq
MIRT2204096	hsa-miR-4439	CLIP-seq
MIRT2204097	hsa-miR-4474-3p	CLIP-seq
MIRT1968193	hsa-miR-4475	CLIP-seq
MIRT2507499	hsa-miR-449c	CLIP-seq
MIRT2204099	hsa-miR-4504	CLIP-seq
MIRT904533	hsa-miR-4518	CLIP-seq
MIRT1968195	hsa-miR-4522	CLIP-seq
MIRT2507500	hsa-miR-4530	CLIP-seq
MIRT2507501	hsa-miR-4641	CLIP-seq
MIRT2507502	hsa-miR-4649-3p	CLIP-seq
MIRT2507503	hsa-miR-4650-5p	CLIP-seq
MIRT2204100	hsa-miR-4652-3p	CLIP-seq
MIRT1968197	hsa-miR-4690-3p	CLIP-seq
MIRT2507504	hsa-miR-4690-5p	CLIP-seq
MIRT2507505	hsa-miR-4710	CLIP-seq
MIRT904538	hsa-miR-4726-3p	CLIP-seq
MIRT2204101	hsa-miR-4731-5p	CLIP-seq
MIRT904539	hsa-miR-4733-3p	CLIP-seq
MIRT2507506	hsa-miR-4735-3p	CLIP-seq
MIRT1968201	hsa-miR-4747-5p	CLIP-seq
MIRT2507507	hsa-miR-4761-5p	CLIP-seq
MIRT2507508	hsa-miR-4762-3p	CLIP-seq
MIRT1968204	hsa-miR-4794	CLIP-seq
MIRT1968205	hsa-miR-499-5p	CLIP-seq
MIRT2204103	hsa-miR-542-3p	CLIP-seq
MIRT2204104	hsa-miR-629	CLIP-seq
MIRT1968208	hsa-miR-641	CLIP-seq
MIRT2204105	hsa-miR-758	CLIP-seq
MIRT2507509	hsa-miR-761	CLIP-seq
MIRT2507510	hsa-miR-764	CLIP-seq
MIRT1968211	hsa-miR-920	CLIP-seq
MIRT2204106	hsa-miR-943	CLIP-seq

Show/Hide all (23)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	25339443, 27499296, 30661980, 32296183
GO:0005739	Component	Mitochondrion	HDA	20833797
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IDA	27499296
GO:0005739	Component	Mitochondrion	IEA
GO:0005739	Component	Mitochondrion	IEA
GO:0005743	Component	Mitochondrial inner membrane	IBA
GO:0005743	Component	Mitochondrial inner membrane	IDA	27499296
GO:0005743	Component	Mitochondrial inner membrane	TAS
GO:0006120	Process	Mitochondrial electron transport, NADH to ubiquinone	IEA
GO:0006744	Process	Ubiquinone biosynthetic process	IBA
GO:0006744	Process	Ubiquinone biosynthetic process	IDA	30661980, 38425362
GO:0006744	Process	Ubiquinone biosynthetic process	IEA
GO:0006744	Process	Ubiquinone biosynthetic process	IEA
GO:0006744	Process	Ubiquinone biosynthetic process	ISS
GO:0006744	Process	Ubiquinone biosynthetic process	NAS	28927698
GO:0008047	Function	Enzyme activator activity	IEA
GO:0008289	Function	Lipid binding	IBA
GO:0008289	Function	Lipid binding	IDA	25339443
GO:0008289	Function	Lipid binding	IEA
GO:0019840	Function	Isoprenoid binding	IDA	30661980, 38425362
GO:0042803	Function	Protein homodimerization activity	IDA	25339443
GO:0110142	Component	Ubiquinone biosynthesis complex	IPI	27499296

MIM	HGNC	e!Ensembl
612837	25302	ENSG00000088682

O75208

Protein name

Ubiquinone biosynthesis protein COQ9, mitochondrial

Protein function

Membrane-associated protein that warps the membrane surface to access and bind aromatic isoprenes with high specificity, including ubiquinone (CoQ) isoprene intermediates and presents them directly to COQ7, therefore facilitating the COQ7-mediat

PDB

4RHP , 6AWL , 6DEW , 7SSP , 7SSS

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF08511	COQ9	210 → 286	COQ9	Domain

Sequence

MAAAAVSGALGRAGWRLLQLRCLPVARCRQALVPRAFHASAVGLRSSDEQKQQPPNSFSQ
QHSETQGAEKPDPESSHSPPRYTDQGGEEEEDYESEEQLQHRILTAALEFVPAHGWTAEA
IAEGAQSLGLSSAAASMFGKDGSELILHFVTQCNTRLTRVLEEEQKLVQLGQAEKRKTDQ
FLRDAVETRLRMLIPYIEHWPRALSILMLPHNIPSSLSLLTSMVDDMWHYAGDQSTDFNW
YTRRAMLAAIYNTTELVMMQDSSPDFEDTWRFLENRVNDAMNMGHTAKQVKSTGEALVQG
LMGAAVTLKNLTGLNQRR

Sequence length

318

Interactions

View interactions

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome	Pathogenic; Likely pathogenic	rs2030153941, rs752219939, rs747898678, rs267606751, rs786205897, rs751556970, rs1491334480, rs759658215, rs2543566429, rs368777580	RCV001328538 RCV001780866 RCV001780867 RCV000000459 RCV000172872 View all (5 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Lung cancer	Likely pathogenic	rs752219939	RCV005922460	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (16)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Acute myeloid leukemia	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coenzyme Q10 deficiency	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
COENZYME Q10 DEFICIENCY, PRIMARY, 5	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COQ9-related disorder	Uncertain significance; Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EBV-positive nodal T- and NK-cell lymphoma	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Leigh syndrome	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar ClinGen, Orphanet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Malignant tumor of esophagus	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MITOCHONDRIAL DISEASE	—	ClinGen, ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MITOCHONDRIAL DISEASES	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (27)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Acidosis Lactic	Lactic acidosis	Pubtator	26081641	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Brain Diseases	Brain disease	Pubtator	26081641	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebellar atrophy	Cerebellar atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebral atrophy	Cerebral Atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
COENZYME Q10 DEFICIENCY	Coenzyme Q10 Deficiency	BEFREE	19375058, 23255162, 25091424, 31821167		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
COENZYME Q10 DEFICIENCY	Coenzyme Q10 Deficiency	GENOMICS_ENGLAND_DG	27604308, 30712880		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
COENZYME Q10 DEFICIENCY, PRIMARY, 1	Coenzyme Q10 deficiency	GENOMICS_ENGLAND_DG	19375058		★★★★★ ★☆☆☆☆ Found in Text Mining only
COENZYME Q10 DEFICIENCY, PRIMARY, 5	Coenzyme Q10 Deficiency	GENOMICS_ENGLAND_DG	11562630, 19375058, 25655951, 26081641, 27604308		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COENZYME Q10 DEFICIENCY, PRIMARY, 5	Coenzyme Q10 Deficiency	ORPHANET_DG	19375058		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COENZYME Q10 DEFICIENCY, PRIMARY, 5	Coenzyme Q10 Deficiency	CLINVAR_DG	19375058, 20495179, 20689595, 23255162, 25802402, 28736527		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COENZYME Q10 DEFICIENCY, PRIMARY, 5	Coenzyme Q10 Deficiency	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes	Diabetes	BEFREE	25937176		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	25937176		★★★★★ ★☆☆☆☆ Found in Text Mining only
Electron Transport Chain Deficiencies, Mitochondrial	Mitochondrial Electron Transport Chain Deficiencies	BEFREE	20849980		★★★★★ ★☆☆☆☆ Found in Text Mining only
Encephalopathies	Epileptic encephalopathy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome	Encephalopathy-Hypertrophic Cardiomyopathy-Renal Tubular Disease Syndrome	Orphanet			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperthyroidism	Hyperthyroidism	BEFREE	30508506		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypothyroidism	Hypothyroidism	BEFREE	30508506		★★★★★ ★☆☆☆☆ Found in Text Mining only
Inborn Errors of Metabolism	Inborn Errors Of Metabolism	BEFREE	31821167		★★★★★ ★☆☆☆☆ Found in Text Mining only
Left Ventricular Hypertrophy	Left Ventricular Hypertrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
MERRF Syndrome	MERRF Syndrome	BEFREE	27155576		★★★★★ ★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic Diseases	BEFREE	29560582		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial Diseases	BEFREE	19375058		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mitochondrial Diseases	Mitochondrial disease	Pubtator	19375058	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neonatal hyperglycemia	Hyperglycemia	GENOMICS_ENGLAND_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Steroid resistant nephrotic syndrome of childhood	Steroid resistant nephrotic syndrome	BEFREE	25091424		★★★★★ ★☆☆☆☆ Found in Text Mining only

COQ9 (coenzyme Q9)