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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	5019
Gene name	3-oxoacid CoA-transferase 1
Gene symbol	OXCT1
Synonyms (NCBI Gene)	OXCTSCOT
Chromosome	5
Chromosome location	5p13.1
Summary	This gene encodes a member of the 3-oxoacid CoA-transferase gene family. The encoded protein is a homodimeric mitochondrial matrix enzyme that plays a central role in extrahepatic ketone body catabolism by catalyzing the reversible transfer of coenzyme A

Show/Hide all (15)

SNP ID	Visualize variation	Clinical significance	Consequence
rs75134564	G>A	Likely-benign, pathogenic, benign	Coding sequence variant, missense variant, non coding transcript variant, genic upstream transcript variant
rs76956231	G>A	Benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant, non coding transcript variant, genic upstream transcript variant
rs121909299	G>C	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs121909300	C>A	Pathogenic	Missense variant, non coding transcript variant, downstream transcript variant, coding sequence variant, genic downstream transcript variant
rs121909301	C>T	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs121909302	C>T	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs121909303	C>T	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs144283422	G>A,C	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, non coding transcript variant, synonymous variant, coding sequence variant, genic downstream transcript variant
rs267606930	A>T	Pathogenic	Genic upstream transcript variant, missense variant, coding sequence variant, non coding transcript variant
rs748715820	AA>-,A,AAA,AAAA	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Genic upstream transcript variant, intron variant
rs1327401976	G>A	Pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant, non coding transcript variant, downstream transcript variant
rs1561081472	C>T	Pathogenic	Intron variant
rs1561128268	C>G	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant, genic upstream transcript variant
rs1579884900	G>A	Likely-pathogenic	Non coding transcript variant, stop gained, coding sequence variant, genic upstream transcript variant
rs1579903197	C>T	Likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant, genic upstream transcript variant

254

Show/Hide all (254)

miRTarBase ID	miRNA	Experiments	Reference
MIRT020769	hsa-miR-155-5p	Proteomics	18668040
MIRT023755	hsa-miR-1-3p	Proteomics;Microarray	18668037
MIRT029445	hsa-miR-26b-5p	Microarray	19088304
MIRT048474	hsa-miR-100-5p	CLASH	23622248
MIRT1208482	hsa-miR-1305	CLIP-seq
MIRT1208483	hsa-miR-4698	CLIP-seq
MIRT1208484	hsa-miR-607	CLIP-seq
MIRT1208485	hsa-miR-656	CLIP-seq
MIRT2059898	hsa-miR-3117-5p	CLIP-seq
MIRT2059899	hsa-miR-345	CLIP-seq
MIRT2059900	hsa-miR-3545-3p	CLIP-seq
MIRT2059901	hsa-miR-3671	CLIP-seq
MIRT2059902	hsa-miR-4287	CLIP-seq
MIRT2059903	hsa-miR-4420	CLIP-seq
MIRT2059904	hsa-miR-4446-5p	CLIP-seq
MIRT2059905	hsa-miR-4469	CLIP-seq
MIRT2059906	hsa-miR-4522	CLIP-seq
MIRT2059907	hsa-miR-4685-3p	CLIP-seq
MIRT2059908	hsa-miR-4713-5p	CLIP-seq
MIRT2059909	hsa-miR-4762-5p	CLIP-seq
MIRT2059910	hsa-miR-548n	CLIP-seq
MIRT2059911	hsa-miR-548t	CLIP-seq
MIRT1208484	hsa-miR-607	CLIP-seq
MIRT2288227	hsa-miR-1236	CLIP-seq
MIRT2288228	hsa-miR-1248	CLIP-seq
MIRT2288229	hsa-miR-129-3p	CLIP-seq
MIRT2288230	hsa-miR-3123	CLIP-seq
MIRT2288231	hsa-miR-3135	CLIP-seq
MIRT2288232	hsa-miR-337-3p	CLIP-seq
MIRT2288233	hsa-miR-3662	CLIP-seq
MIRT2059901	hsa-miR-3671	CLIP-seq
MIRT2288234	hsa-miR-369-3p	CLIP-seq
MIRT2288235	hsa-miR-374a	CLIP-seq
MIRT2288236	hsa-miR-374b	CLIP-seq
MIRT2288237	hsa-miR-3925-5p	CLIP-seq
MIRT2288238	hsa-miR-4464	CLIP-seq
MIRT2059906	hsa-miR-4522	CLIP-seq
MIRT2288239	hsa-miR-4687-5p	CLIP-seq
MIRT2288240	hsa-miR-4748	CLIP-seq
MIRT2059909	hsa-miR-4762-5p	CLIP-seq
MIRT2288241	hsa-miR-4773	CLIP-seq
MIRT2288242	hsa-miR-586	CLIP-seq
MIRT1208484	hsa-miR-607	CLIP-seq
MIRT2392019	hsa-miR-4521	CLIP-seq
MIRT2288227	hsa-miR-1236	CLIP-seq
MIRT2586333	hsa-miR-124	CLIP-seq
MIRT2288228	hsa-miR-1248	CLIP-seq
MIRT2586334	hsa-miR-1253	CLIP-seq
MIRT2586335	hsa-miR-1261	CLIP-seq
MIRT2586336	hsa-miR-1278	CLIP-seq
MIRT2288229	hsa-miR-129-3p	CLIP-seq
MIRT2586337	hsa-miR-1296	CLIP-seq
MIRT2586338	hsa-miR-147	CLIP-seq
MIRT2586339	hsa-miR-1537	CLIP-seq
MIRT2586340	hsa-miR-2110	CLIP-seq
MIRT2586341	hsa-miR-2277-3p	CLIP-seq
MIRT2586342	hsa-miR-2964a-5p	CLIP-seq
MIRT2586343	hsa-miR-298	CLIP-seq
MIRT2059898	hsa-miR-3117-5p	CLIP-seq
MIRT2586344	hsa-miR-3120-3p	CLIP-seq
MIRT2288230	hsa-miR-3123	CLIP-seq
MIRT2586345	hsa-miR-3125	CLIP-seq
MIRT2586346	hsa-miR-3129-3p	CLIP-seq
MIRT2288231	hsa-miR-3135	CLIP-seq
MIRT2586347	hsa-miR-3137	CLIP-seq
MIRT2586348	hsa-miR-3150a-3p	CLIP-seq
MIRT2586349	hsa-miR-3152-3p	CLIP-seq
MIRT2586350	hsa-miR-3153	CLIP-seq
MIRT2586351	hsa-miR-3154	CLIP-seq
MIRT2586352	hsa-miR-3157-5p	CLIP-seq
MIRT2586353	hsa-miR-330-3p	CLIP-seq
MIRT2288232	hsa-miR-337-3p	CLIP-seq
MIRT2059899	hsa-miR-345	CLIP-seq
MIRT2059900	hsa-miR-3545-3p	CLIP-seq
MIRT2586354	hsa-miR-361-3p	CLIP-seq
MIRT2586355	hsa-miR-3614-3p	CLIP-seq
MIRT2586356	hsa-miR-3650	CLIP-seq
MIRT2586357	hsa-miR-3653	CLIP-seq
MIRT2586358	hsa-miR-3658	CLIP-seq
MIRT2059901	hsa-miR-3671	CLIP-seq
MIRT2586359	hsa-miR-3679-3p	CLIP-seq
MIRT2586360	hsa-miR-3686	CLIP-seq
MIRT2288234	hsa-miR-369-3p	CLIP-seq
MIRT2288235	hsa-miR-374a	CLIP-seq
MIRT2288236	hsa-miR-374b	CLIP-seq
MIRT2586361	hsa-miR-3916	CLIP-seq
MIRT2288237	hsa-miR-3925-5p	CLIP-seq
MIRT2586362	hsa-miR-3929	CLIP-seq
MIRT2586363	hsa-miR-4259	CLIP-seq
MIRT2586364	hsa-miR-4263	CLIP-seq
MIRT2586365	hsa-miR-4271	CLIP-seq
MIRT2586366	hsa-miR-4273	CLIP-seq
MIRT2586367	hsa-miR-4275	CLIP-seq
MIRT2059902	hsa-miR-4287	CLIP-seq
MIRT2586368	hsa-miR-4290	CLIP-seq
MIRT2586369	hsa-miR-4419b	CLIP-seq
MIRT2059903	hsa-miR-4420	CLIP-seq
MIRT2586370	hsa-miR-4422	CLIP-seq
MIRT2586371	hsa-miR-4436a	CLIP-seq
MIRT2059904	hsa-miR-4446-5p	CLIP-seq
MIRT2288238	hsa-miR-4464	CLIP-seq
MIRT2059905	hsa-miR-4469	CLIP-seq
MIRT2586372	hsa-miR-4474-5p	CLIP-seq
MIRT2586373	hsa-miR-4478	CLIP-seq
MIRT2586374	hsa-miR-4484	CLIP-seq
MIRT2586375	hsa-miR-450b-5p	CLIP-seq
MIRT2586376	hsa-miR-451	CLIP-seq
MIRT2586377	hsa-miR-4512	CLIP-seq
MIRT2059906	hsa-miR-4522	CLIP-seq
MIRT2586378	hsa-miR-4646-5p	CLIP-seq
MIRT2586379	hsa-miR-4677-5p	CLIP-seq
MIRT2586380	hsa-miR-4680-3p	CLIP-seq
MIRT2059907	hsa-miR-4685-3p	CLIP-seq
MIRT2586381	hsa-miR-4687-3p	CLIP-seq
MIRT2288239	hsa-miR-4687-5p	CLIP-seq
MIRT2586382	hsa-miR-4691-3p	CLIP-seq
MIRT2586383	hsa-miR-4712-5p	CLIP-seq
MIRT2059908	hsa-miR-4713-5p	CLIP-seq
MIRT2586384	hsa-miR-4715-5p	CLIP-seq
MIRT2586385	hsa-miR-4725-3p	CLIP-seq
MIRT2586386	hsa-miR-4731-3p	CLIP-seq
MIRT2586387	hsa-miR-4747-5p	CLIP-seq
MIRT2288240	hsa-miR-4748	CLIP-seq
MIRT2586388	hsa-miR-4755-5p	CLIP-seq
MIRT2586389	hsa-miR-4759	CLIP-seq
MIRT2059909	hsa-miR-4762-5p	CLIP-seq
MIRT2288241	hsa-miR-4773	CLIP-seq
MIRT2586390	hsa-miR-4801	CLIP-seq
MIRT2586391	hsa-miR-494	CLIP-seq
MIRT2586392	hsa-miR-506	CLIP-seq
MIRT2586393	hsa-miR-518a-5p	CLIP-seq
MIRT2586394	hsa-miR-527	CLIP-seq
MIRT2586395	hsa-miR-548aa	CLIP-seq
MIRT2586396	hsa-miR-548ac	CLIP-seq
MIRT2586397	hsa-miR-548an	CLIP-seq
MIRT2586398	hsa-miR-548c-3p	CLIP-seq
MIRT2586399	hsa-miR-548d-3p	CLIP-seq
MIRT2059910	hsa-miR-548n	CLIP-seq
MIRT2059911	hsa-miR-548t	CLIP-seq
MIRT2586400	hsa-miR-548z	CLIP-seq
MIRT2586401	hsa-miR-562	CLIP-seq
MIRT2586402	hsa-miR-581	CLIP-seq
MIRT2288242	hsa-miR-586	CLIP-seq
MIRT1208484	hsa-miR-607	CLIP-seq
MIRT2586403	hsa-miR-635	CLIP-seq
MIRT2586404	hsa-miR-770-5p	CLIP-seq
MIRT2586405	hsa-miR-889	CLIP-seq
MIRT2586406	hsa-miR-935	CLIP-seq
MIRT2288227	hsa-miR-1236	CLIP-seq
MIRT2586333	hsa-miR-124	CLIP-seq
MIRT2288228	hsa-miR-1248	CLIP-seq
MIRT2586334	hsa-miR-1253	CLIP-seq
MIRT2586335	hsa-miR-1261	CLIP-seq
MIRT2586336	hsa-miR-1278	CLIP-seq
MIRT2288229	hsa-miR-129-3p	CLIP-seq
MIRT2586337	hsa-miR-1296	CLIP-seq
MIRT2586338	hsa-miR-147	CLIP-seq
MIRT2586339	hsa-miR-1537	CLIP-seq
MIRT2586340	hsa-miR-2110	CLIP-seq
MIRT2586341	hsa-miR-2277-3p	CLIP-seq
MIRT2586342	hsa-miR-2964a-5p	CLIP-seq
MIRT2586343	hsa-miR-298	CLIP-seq
MIRT2686926	hsa-miR-3074-5p	CLIP-seq
MIRT2059898	hsa-miR-3117-5p	CLIP-seq
MIRT2586344	hsa-miR-3120-3p	CLIP-seq
MIRT2288230	hsa-miR-3123	CLIP-seq
MIRT2586345	hsa-miR-3125	CLIP-seq
MIRT2586346	hsa-miR-3129-3p	CLIP-seq
MIRT2288231	hsa-miR-3135	CLIP-seq
MIRT2586347	hsa-miR-3137	CLIP-seq
MIRT2586348	hsa-miR-3150a-3p	CLIP-seq
MIRT2586349	hsa-miR-3152-3p	CLIP-seq
MIRT2586350	hsa-miR-3153	CLIP-seq
MIRT2586351	hsa-miR-3154	CLIP-seq
MIRT2586352	hsa-miR-3157-5p	CLIP-seq
MIRT2586353	hsa-miR-330-3p	CLIP-seq
MIRT2288232	hsa-miR-337-3p	CLIP-seq
MIRT2059899	hsa-miR-345	CLIP-seq
MIRT2059900	hsa-miR-3545-3p	CLIP-seq
MIRT2586354	hsa-miR-361-3p	CLIP-seq
MIRT2586355	hsa-miR-3614-3p	CLIP-seq
MIRT2586356	hsa-miR-3650	CLIP-seq
MIRT2586357	hsa-miR-3653	CLIP-seq
MIRT2586358	hsa-miR-3658	CLIP-seq
MIRT2059901	hsa-miR-3671	CLIP-seq
MIRT2586359	hsa-miR-3679-3p	CLIP-seq
MIRT2586360	hsa-miR-3686	CLIP-seq
MIRT2288234	hsa-miR-369-3p	CLIP-seq
MIRT2686927	hsa-miR-370	CLIP-seq
MIRT2288235	hsa-miR-374a	CLIP-seq
MIRT2288236	hsa-miR-374b	CLIP-seq
MIRT2586361	hsa-miR-3916	CLIP-seq
MIRT2288237	hsa-miR-3925-5p	CLIP-seq
MIRT2586362	hsa-miR-3929	CLIP-seq
MIRT2586363	hsa-miR-4259	CLIP-seq
MIRT2586364	hsa-miR-4263	CLIP-seq
MIRT2586365	hsa-miR-4271	CLIP-seq
MIRT2586366	hsa-miR-4273	CLIP-seq
MIRT2586367	hsa-miR-4275	CLIP-seq
MIRT2059902	hsa-miR-4287	CLIP-seq
MIRT2586368	hsa-miR-4290	CLIP-seq
MIRT2586369	hsa-miR-4419b	CLIP-seq
MIRT2059903	hsa-miR-4420	CLIP-seq
MIRT2586370	hsa-miR-4422	CLIP-seq
MIRT2586371	hsa-miR-4436a	CLIP-seq
MIRT2059904	hsa-miR-4446-5p	CLIP-seq
MIRT2288238	hsa-miR-4464	CLIP-seq
MIRT2059905	hsa-miR-4469	CLIP-seq
MIRT2586372	hsa-miR-4474-5p	CLIP-seq
MIRT2586373	hsa-miR-4478	CLIP-seq
MIRT2586374	hsa-miR-4484	CLIP-seq
MIRT2586375	hsa-miR-450b-5p	CLIP-seq
MIRT2586376	hsa-miR-451	CLIP-seq
MIRT2586377	hsa-miR-4512	CLIP-seq
MIRT2059906	hsa-miR-4522	CLIP-seq
MIRT2586378	hsa-miR-4646-5p	CLIP-seq
MIRT2586379	hsa-miR-4677-5p	CLIP-seq
MIRT2586380	hsa-miR-4680-3p	CLIP-seq
MIRT2059907	hsa-miR-4685-3p	CLIP-seq
MIRT2586381	hsa-miR-4687-3p	CLIP-seq
MIRT2288239	hsa-miR-4687-5p	CLIP-seq
MIRT2586382	hsa-miR-4691-3p	CLIP-seq
MIRT2586383	hsa-miR-4712-5p	CLIP-seq
MIRT2059908	hsa-miR-4713-5p	CLIP-seq
MIRT2586384	hsa-miR-4715-5p	CLIP-seq
MIRT2586385	hsa-miR-4725-3p	CLIP-seq
MIRT2586386	hsa-miR-4731-3p	CLIP-seq
MIRT2586387	hsa-miR-4747-5p	CLIP-seq
MIRT2288240	hsa-miR-4748	CLIP-seq
MIRT2586388	hsa-miR-4755-5p	CLIP-seq
MIRT2586389	hsa-miR-4759	CLIP-seq
MIRT2059909	hsa-miR-4762-5p	CLIP-seq
MIRT2288241	hsa-miR-4773	CLIP-seq
MIRT2586390	hsa-miR-4801	CLIP-seq
MIRT2586391	hsa-miR-494	CLIP-seq
MIRT2586392	hsa-miR-506	CLIP-seq
MIRT2586393	hsa-miR-518a-5p	CLIP-seq
MIRT2586394	hsa-miR-527	CLIP-seq
MIRT2586395	hsa-miR-548aa	CLIP-seq
MIRT2586396	hsa-miR-548ac	CLIP-seq
MIRT2586397	hsa-miR-548an	CLIP-seq
MIRT2586398	hsa-miR-548c-3p	CLIP-seq
MIRT2586399	hsa-miR-548d-3p	CLIP-seq
MIRT2059910	hsa-miR-548n	CLIP-seq
MIRT2059911	hsa-miR-548t	CLIP-seq
MIRT2586400	hsa-miR-548z	CLIP-seq
MIRT2586401	hsa-miR-562	CLIP-seq
MIRT2586402	hsa-miR-581	CLIP-seq
MIRT2288242	hsa-miR-586	CLIP-seq
MIRT1208484	hsa-miR-607	CLIP-seq
MIRT2586403	hsa-miR-635	CLIP-seq
MIRT2586404	hsa-miR-770-5p	CLIP-seq
MIRT2586405	hsa-miR-889	CLIP-seq
MIRT2586406	hsa-miR-935	CLIP-seq

Show/Hide all (28)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IBA
GO:0005739	Component	Mitochondrion	IDA	11756565
GO:0005739	Component	Mitochondrion	IEA
GO:0005739	Component	Mitochondrion	NAS	10964512
GO:0005759	Component	Mitochondrial matrix	TAS
GO:0006629	Process	Lipid metabolic process	IEA
GO:0007507	Process	Heart development	IEA
GO:0007584	Process	Response to nutrient	IEA
GO:0008260	Function	Succinyl-CoA:3-oxo-acid CoA-transferase activity	IBA
GO:0008260	Function	Succinyl-CoA:3-oxo-acid CoA-transferase activity	IEA
GO:0008260	Function	Succinyl-CoA:3-oxo-acid CoA-transferase activity	IMP	8751852, 10964512
GO:0008410	Function	CoA-transferase activity	IEA
GO:0009410	Process	Response to xenobiotic stimulus	IEA
GO:0009725	Process	Response to hormone	IEA
GO:0014823	Process	Response to activity	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0035774	Process	Positive regulation of insulin secretion involved in cellular response to glucose stimulus	IEA
GO:0042182	Process	Ketone catabolic process	IEA
GO:0042594	Process	Response to starvation	IEA
GO:0042802	Function	Identical protein binding	IEA
GO:0045471	Process	Response to ethanol	IEA
GO:0046952	Process	Ketone body catabolic process	IEA
GO:0046952	Process	Ketone body catabolic process	IEA
GO:0060612	Process	Adipose tissue development	IEA
GO:1902224	Process	Ketone body metabolic process	IBA
GO:1902224	Process	Ketone body metabolic process	IEA
GO:1902224	Process	Ketone body metabolic process	IMP	9671268

MIM	HGNC	e!Ensembl
601424	8527	ENSG00000083720

P55809

Protein name

Succinyl-CoA:3-ketoacid coenzyme A transferase 1, mitochondrial (SCOT) (EC 2.8.3.5) (3-oxoacid CoA-transferase 1) (Somatic-type succinyl-CoA:3-oxoacid CoA-transferase) (SCOT-s) (Succinyl-CoA:3-oxoacid CoA transferase)

Protein function

Key enzyme for ketone body catabolism. Catalyzes the first, rate-limiting step of ketone body utilization in extrahepatic tissues, by transferring coenzyme A (CoA) from a donor thiolester species (succinyl-CoA) to an acceptor carboxylate (acetoa

PDB

3DLX

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF01144	CoA_trans	43 → 272	Coenzyme A transferase	Domain
PF01144	CoA_trans	302 → 501	Coenzyme A transferase	Domain

Tissue specificity

TISSUE SPECIFICITY: Abundant in heart, followed in order by brain, kidney, skeletal muscle, and lung, whereas in liver it is undetectable. Expressed (at protein level) in all tissues (except in liver), most abundant in myocardium, then brain, kidney, adre

Sequence

MAALKLLSSGLRLCASARGSGATWYKGCVCSFSTSAHRHTKFYTDPVEAVKDIPDGATVL
VGGFGLCGIPENLIDALLKTGVKGLTAVSNNAGVDNFGLGLLLRSKQIKRMVSSYVGENA
EFERQYLSGELEVELTPQGTLAERIRAGGAGVPAFYTPTGYGTLVQEGGSPIKYNKDGSV
AIASKPREVREFNGQHFILEEAITGDFALVKAWKADRAGNVIFRKSARNFNLPMCKAAET
TVVEVEEIVDIGAFAPEDIHIPQIYVHRLIKGEKYEKRIERLSIRKEGDGEAKSAKPGDD
VRERIIKRAALEFEDGMYANLGIGIPLLASNFISPNITVHLQSENGVLGLGPYPRQHEAD
ADLINAGKETVTILPGASFFSSDESFAMIRGGHVDLTMLGAMQVSKYGDLANWMIPGKMV
KGMGGAMDLVSSAKTKVVVTMEHSAKGNAHKIMEKCTLPLTGKQCVNRIITEKAVFDVDK
KKGLTLIELWEGLTVDDVQKSTGCDFAVSPKLMPMQQIAN

Sequence length

520

Interactions

View interactions

	KEGG		Reactome
	Valine, leucine and isoleucine degradation Butanoate metabolism Metabolic pathways		Utilization of Ketone Bodies

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
OXCT1-related disorder	Likely pathogenic; Pathogenic	rs2478601239	RCV003410040	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Succinyl-CoA acetoacetate transferase deficiency	Pathogenic; Likely pathogenic	rs369643387, rs2112279054, rs758813974, rs2112471375, rs2112440626, rs2112279505, rs2478312896, rs2478601239, rs121909299, rs121909300, rs121909301, rs121909302, rs202242762, rs2478254671, rs1561081472 View all (5 more)	RCV001374718 RCV001383891 RCV001383892 RCV001782560 RCV001782561 View all (15 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (8)

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.
Adrenocortical carcinoma, hereditary	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR II DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOPOROSIS	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (44)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Anemia, Sickle Cell	Anemia	BEFREE	30097463		★★★★★ ★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm Thoracic	Thoracic aortic aneurysm	Pubtator	37193023	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Aortic Dissection	Aortic dissection	Pubtator	37193023	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	36308411, 38176415	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Classical phenylketonuria	Phenylketonuria	BEFREE	28820737		★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	30803814		★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	29680338, 30803814		★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	30803814		★★★★★ ★☆☆☆☆ Found in Text Mining only
Deficiency of 3-oxoacid CoA-transferase	Deficiency Of 3-Oxoacid CoA-Transferase	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Deficiency of acetyl-CoA acetyltransferase	Deficiency Of Acetyl-CoA Acetyltransferase	BEFREE	24706027		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	19296078	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	19296078	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetic Cardiomyopathies	Diabetic cardiomyopathy	Pubtator	38160540	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	21791085		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hepatoblastoma	Hepatoblastoma	Pubtator	39684755	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ketonuria	Ketonuria	GWASCAT_DG	30476138		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ketonuria	Ketonuria	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ketosis	Ketosis	BEFREE	28695376		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	27644987		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	28684065		★★★★★ ★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic syndrome	Pubtator	9083111	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Myocardial Ischemia	Myocardial Ischemia	BEFREE	31642694		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Carcinoma	Nasopharyngeal carcinoma	Pubtator	40083932	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	28684065		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	CTD_human_DG	18924182		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteoporosis, Age-Related	Osteoporosis	CTD_human_DG	18924182		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteoporosis, Senile	Osteoporosis	CTD_human_DG	18924182		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	35191809	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Phenylketonurias	Phenylketonuria	BEFREE	28820737		★★★★★ ★☆☆☆☆ Found in Text Mining only
Post-Traumatic Osteoporosis	Osteoporosis	CTD_human_DG	18924182		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	23443136	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Scleroderma	Scleroderma	BEFREE	31391177		★★★★★ ★☆☆☆☆ Found in Text Mining only
Sjogren's Syndrome	Sjogren syndrome	Pubtator	29504848	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Stable angina	Stable Angina	BEFREE	30803814		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	15330163	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Succinyl-CoA:3-oxoacid CoA transferase deficiency	Succinyl-CoA Acetoacetate Transferase Deficiency	GENOMICS_ENGLAND_DG	10964512		★★★★★ ★☆☆☆☆ Found in Text Mining only
Succinyl-CoA:3-oxoacid CoA transferase deficiency	Succinyl-CoA Acetoacetate Transferase Deficiency	UNIPROT_DG	10964512, 21296660, 9671268		★★★★★ ★☆☆☆☆ Found in Text Mining only
Succinyl-CoA:3-oxoacid CoA transferase deficiency	Succinyl-CoA Acetoacetate Transferase Deficiency	ORPHANET_DG	21296660, 23420214		★★★★★ ★☆☆☆☆ Found in Text Mining only
Succinyl-CoA:3-oxoacid CoA transferase deficiency	Succinyl-CoA Acetoacetate Transferase Deficiency	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Succinyl-CoA:3-oxoacid CoA transferase deficiency	Succinyl-CoA Acetoacetate Transferase Deficiency	CLINVAR_DG	31216074		★★★★★ ★☆☆☆☆ Found in Text Mining only
Succinyl-CoA:3-oxoacid CoA transferase deficiency	Succinyl-CoA Acetoacetate Transferase Deficiency	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Systemic Scleroderma	Scleroderma	BEFREE	31391177		★★★★★ ★☆☆☆☆ Found in Text Mining only
Thoracic Diseases	Thoracic disease	Pubtator	37193023	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	40634657	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

OXCT1 (3-oxoacid CoA-transferase 1)