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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	38
Gene name	Acetyl-CoA acetyltransferase 1
Gene symbol	ACAT1
Synonyms (NCBI Gene)	ACATMATT2THIL
Chromosome	11
Chromosome location	11q22.3
Summary	This gene encodes a mitochondrially localized enzyme that catalyzes the reversible formation of acetoacetyl-CoA from two molecules of acetyl-CoA. Defects in this gene are associated with 3-ketothiolase deficiency, an inborn error of isoleucine catabolism

Show/Hide all (87)

SNP ID	Visualize variation	Clinical significance	Consequence
rs77311724	G>C,T	Conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, 5 prime UTR variant, coding sequence variant, intron variant, synonymous variant, upstream transcript variant
rs120074140	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs120074141	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs120074142	T>A,C	Pathogenic	Upstream transcript variant, genic upstream transcript variant, intron variant, 5 prime UTR variant, initiator codon variant, missense variant
rs120074143	G>T	Likely-pathogenic	Coding sequence variant, missense variant
rs120074144	C>G,T	Pathogenic	Coding sequence variant, stop gained, missense variant
rs120074145	A>G	Likely-pathogenic	Coding sequence variant, initiator codon variant, missense variant
rs120074146	T>C,G	Likely-pathogenic	Coding sequence variant, missense variant
rs120074147	G>C	Pathogenic-likely-pathogenic	Coding sequence variant, missense variant
rs120074148	C>G	Likely-pathogenic	Coding sequence variant, intron variant, missense variant
rs145229472	A>C	Pathogenic	Splice acceptor variant
rs148639841	A>C,G	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs199524907	A>G	Pathogenic, pathogenic-likely-pathogenic	Coding sequence variant, missense variant
rs370720208	G>A	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant
rs373771053	A>G	Pathogenic	Missense variant, coding sequence variant
rs387906282	AGA>-	Likely-pathogenic	Coding sequence variant, inframe deletion
rs387906283	->A	Pathogenic	Coding sequence variant, frameshift variant
rs398123096	T>C	Pathogenic	Splice donor variant
rs398123097	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs532190594	C>A,G,T	Pathogenic, likely-benign, uncertain-significance	Missense variant, coding sequence variant, synonymous variant, stop gained
rs541517496	T>C,G	Likely-pathogenic	Missense variant, coding sequence variant
rs727503795	GG>-	Pathogenic, pathogenic-likely-pathogenic	Coding sequence variant, frameshift variant
rs727503796	G>T	Pathogenic	Splice donor variant
rs746332363	C>A,G	Likely-pathogenic	Coding sequence variant, missense variant
rs747714452	C>T	Pathogenic	Synonymous variant, coding sequence variant
rs748303093	T>A,C	Likely-pathogenic	Coding sequence variant, missense variant
rs749873354	AT>-	Pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant
rs750195919	A>C	Likely-pathogenic	Coding sequence variant, missense variant
rs755806238	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs762991875	G>C	Likely-pathogenic, pathogenic-likely-pathogenic	Missense variant, coding sequence variant
rs765961551	AGA>-	Likely-pathogenic	Coding sequence variant, inframe deletion
rs773491386	G>A,C	Pathogenic	Coding sequence variant, missense variant
rs779565865	C>-	Pathogenic	Frameshift variant, coding sequence variant, 5 prime UTR variant
rs779758622	A>C	Likely-pathogenic	Missense variant, coding sequence variant, 5 prime UTR variant
rs780486838	G>A	Pathogenic	Missense variant, coding sequence variant
rs781496140	GA>-	Pathogenic	Frameshift variant, coding sequence variant
rs794727475	G>A,T	Likely-pathogenic	Missense variant, coding sequence variant, 5 prime UTR variant
rs797044633	TAAG>AAA	Pathogenic	Splice acceptor variant, intron variant
rs866364527	AAG>-	Likely-pathogenic	Inframe deletion, coding sequence variant, 5 prime UTR variant
rs869312946	G>A	Pathogenic	Missense variant, coding sequence variant
rs879255505	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs886041122	C>A,T	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs980651269	T>A,G	Pathogenic	Intron variant
rs983216159	T>A,C	Likely-pathogenic	Coding sequence variant, missense variant, synonymous variant
rs1025180934	A>C,G	Likely-pathogenic	Coding sequence variant, intron variant, missense variant
rs1037467160	A>C,G	Likely-pathogenic	Missense variant, intron variant, coding sequence variant
rs1131691567	G>A,C	Pathogenic	Splice acceptor variant
rs1184088336	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1233969418	C>T	Pathogenic	Coding sequence variant, synonymous variant, stop gained
rs1278227329	G>C	Likely-pathogenic	Coding sequence variant, intron variant, missense variant
rs1280110907	T>C	Pathogenic	Splice donor variant
rs1305448140	A>G	Pathogenic	Genic upstream transcript variant, upstream transcript variant, missense variant, intron variant, initiator codon variant, 5 prime UTR variant
rs1338023969	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1385465985	C>A,T	Likely-pathogenic	Missense variant, coding sequence variant
rs1410743762	GTGTT>-	Likely-pathogenic	Intron variant
rs1420321267	G>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1437567292	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1469248513	T>A	Pathogenic	5 prime UTR variant, stop gained, coding sequence variant
rs1476273214	->C	Pathogenic	Genic upstream transcript variant, coding sequence variant, 5 prime UTR variant, intron variant, upstream transcript variant, frameshift variant
rs1565297723	A>-,AA	Pathogenic	Coding sequence variant, frameshift variant
rs1565297769	C>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1591360326	A>T	Pathogenic	5 prime UTR variant, coding sequence variant, stop gained
rs1591360348	->TG	Pathogenic	5 prime UTR variant, coding sequence variant, frameshift variant
rs1591361903	T>A	Pathogenic	Intron variant
rs1591362533	G>A	Pathogenic	Splice donor variant
rs1591363674	AT>G	Pathogenic	Coding sequence variant, frameshift variant, intron variant
rs1591363715	A>G	Likely-pathogenic	Coding sequence variant, missense variant, intron variant
rs1591363760	C>T	Pathogenic	Coding sequence variant, missense variant, intron variant
rs1591363786	C>G	Likely-pathogenic	Coding sequence variant, missense variant, intron variant
rs1591363795	CTCAAAGTC>T	Likely-pathogenic	Coding sequence variant, frameshift variant, intron variant
rs1591363800	AA>-	Pathogenic	Coding sequence variant, frameshift variant, intron variant
rs1591363834	G>A	Pathogenic	Intron variant, splice donor variant
rs1591367375	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs1591367422	GAGCATGTCCAATGTTCCATA>TCCTC	Pathogenic	Coding sequence variant, frameshift variant
rs1591367592	G>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1591368794	GC>AA	Likely-pathogenic	Coding sequence variant, missense variant
rs1591368919	G>A	Pathogenic	Splice donor variant
rs1591370141	TGACTACTTGTTTTGAGCGATTTTACTTAAAATATTTTTATTTTAGGTCAACCAGATGTAGTGGTGAA>-	Pathogenic	Coding sequence variant, splice acceptor variant, intron variant
rs1591370221	->CT	Pathogenic	Coding sequence variant, frameshift variant
rs1591370366	G>T	Likely-pathogenic	Intron variant
rs1591371185	G>T	Pathogenic	Splice donor variant
rs1591374544	->AAGA	Pathogenic	Coding sequence variant, frameshift variant
rs1591374552	->ATG	Likely-pathogenic	Coding sequence variant, inframe insertion
rs1591374629	T>A,G	Likely-pathogenic	Coding sequence variant, missense variant
rs1591374632	A>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1591375843	->GTCT	Pathogenic	Coding sequence variant, frameshift variant
rs1591375882	ATGGA>GT	Likely-pathogenic	Inframe indel, coding sequence variant

Show/Hide all (90)

miRTarBase ID	miRNA	Experiments	Reference
MIRT023466	hsa-miR-23b-3p	Sequencing	20371350
MIRT030744	hsa-miR-21-5p	Microarray	18591254
MIRT052670	hsa-miR-1260b	CLASH	23622248
MIRT437469	hsa-miR-9-5p	Luciferase reporter assayqRT-PCRWestern blot	24028971
MIRT030744	hsa-miR-21-5p	Western blottingqRT-PCRELISA	34985712
MIRT761879	hsa-miR-1237	CLIP-seq
MIRT761880	hsa-miR-1245b-5p	CLIP-seq
MIRT761881	hsa-miR-199a-3p	CLIP-seq
MIRT761882	hsa-miR-199b-3p	CLIP-seq
MIRT761883	hsa-miR-214	CLIP-seq
MIRT761884	hsa-miR-296-3p	CLIP-seq
MIRT761885	hsa-miR-3120-3p	CLIP-seq
MIRT761886	hsa-miR-3121-3p	CLIP-seq
MIRT761887	hsa-miR-3129-5p	CLIP-seq
MIRT761888	hsa-miR-3142	CLIP-seq
MIRT761889	hsa-miR-323b-5p	CLIP-seq
MIRT761890	hsa-miR-3619-5p	CLIP-seq
MIRT761891	hsa-miR-3663-5p	CLIP-seq
MIRT761892	hsa-miR-3920	CLIP-seq
MIRT761893	hsa-miR-4650-5p	CLIP-seq
MIRT761894	hsa-miR-4690-5p	CLIP-seq
MIRT761895	hsa-miR-761	CLIP-seq
MIRT1924635	hsa-miR-1273g	CLIP-seq
MIRT1924636	hsa-miR-1278	CLIP-seq
MIRT761886	hsa-miR-3121-3p	CLIP-seq
MIRT761889	hsa-miR-323b-5p	CLIP-seq
MIRT1924637	hsa-miR-4318	CLIP-seq
MIRT1924638	hsa-miR-603	CLIP-seq
MIRT761879	hsa-miR-1237	CLIP-seq
MIRT761880	hsa-miR-1245b-5p	CLIP-seq
MIRT1924636	hsa-miR-1278	CLIP-seq
MIRT761883	hsa-miR-214	CLIP-seq
MIRT761884	hsa-miR-296-3p	CLIP-seq
MIRT761885	hsa-miR-3120-3p	CLIP-seq
MIRT2165917	hsa-miR-3120-5p	CLIP-seq
MIRT761886	hsa-miR-3121-3p	CLIP-seq
MIRT761888	hsa-miR-3142	CLIP-seq
MIRT2165918	hsa-miR-3182	CLIP-seq
MIRT761889	hsa-miR-323b-5p	CLIP-seq
MIRT2165919	hsa-miR-325	CLIP-seq
MIRT761890	hsa-miR-3619-5p	CLIP-seq
MIRT761891	hsa-miR-3663-5p	CLIP-seq
MIRT761892	hsa-miR-3920	CLIP-seq
MIRT2165920	hsa-miR-431	CLIP-seq
MIRT761893	hsa-miR-4650-5p	CLIP-seq
MIRT761894	hsa-miR-4690-5p	CLIP-seq
MIRT2165921	hsa-miR-628-3p	CLIP-seq
MIRT761895	hsa-miR-761	CLIP-seq
MIRT761879	hsa-miR-1237	CLIP-seq
MIRT761880	hsa-miR-1245b-5p	CLIP-seq
MIRT2468468	hsa-miR-1305	CLIP-seq
MIRT761881	hsa-miR-199a-3p	CLIP-seq
MIRT761882	hsa-miR-199b-3p	CLIP-seq
MIRT761883	hsa-miR-214	CLIP-seq
MIRT2468469	hsa-miR-2467-3p	CLIP-seq
MIRT761884	hsa-miR-296-3p	CLIP-seq
MIRT761885	hsa-miR-3120-3p	CLIP-seq
MIRT761886	hsa-miR-3121-3p	CLIP-seq
MIRT761887	hsa-miR-3129-5p	CLIP-seq
MIRT761888	hsa-miR-3142	CLIP-seq
MIRT761889	hsa-miR-323b-5p	CLIP-seq
MIRT761890	hsa-miR-3619-5p	CLIP-seq
MIRT761891	hsa-miR-3663-5p	CLIP-seq
MIRT761892	hsa-miR-3920	CLIP-seq
MIRT2468470	hsa-miR-409-5p	CLIP-seq
MIRT2468471	hsa-miR-4257	CLIP-seq
MIRT761893	hsa-miR-4650-5p	CLIP-seq
MIRT761894	hsa-miR-4690-5p	CLIP-seq
MIRT2468472	hsa-miR-4761-5p	CLIP-seq
MIRT2468473	hsa-miR-498	CLIP-seq
MIRT761895	hsa-miR-761	CLIP-seq
MIRT761879	hsa-miR-1237	CLIP-seq
MIRT761880	hsa-miR-1245b-5p	CLIP-seq
MIRT761881	hsa-miR-199a-3p	CLIP-seq
MIRT761882	hsa-miR-199b-3p	CLIP-seq
MIRT761883	hsa-miR-214	CLIP-seq
MIRT2468469	hsa-miR-2467-3p	CLIP-seq
MIRT761884	hsa-miR-296-3p	CLIP-seq
MIRT761885	hsa-miR-3120-3p	CLIP-seq
MIRT761886	hsa-miR-3121-3p	CLIP-seq
MIRT761887	hsa-miR-3129-5p	CLIP-seq
MIRT761888	hsa-miR-3142	CLIP-seq
MIRT761889	hsa-miR-323b-5p	CLIP-seq
MIRT761890	hsa-miR-3619-5p	CLIP-seq
MIRT761891	hsa-miR-3663-5p	CLIP-seq
MIRT761892	hsa-miR-3920	CLIP-seq
MIRT2468471	hsa-miR-4257	CLIP-seq
MIRT761893	hsa-miR-4650-5p	CLIP-seq
MIRT761894	hsa-miR-4690-5p	CLIP-seq
MIRT761895	hsa-miR-761	CLIP-seq

Show/Hide all (2)

Transcription factor	Regulation	Reference
PPARG	Activation	19049899
STAT1	Unknown	18000807

Show/Hide all (40)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001889	Process	Liver development	IEA
GO:0003985	Function	Acetyl-CoA C-acetyltransferase activity	IBA
GO:0003985	Function	Acetyl-CoA C-acetyltransferase activity	IDA	17371050
GO:0003985	Function	Acetyl-CoA C-acetyltransferase activity	IEA
GO:0003985	Function	Acetyl-CoA C-acetyltransferase activity	IMP	1979337, 8103405
GO:0003985	Function	Acetyl-CoA C-acetyltransferase activity	TAS	1979337
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IBA
GO:0005739	Component	Mitochondrion	IDA	1979337
GO:0005739	Component	Mitochondrion	IEA
GO:0005759	Component	Mitochondrial matrix	IEA
GO:0005759	Component	Mitochondrial matrix	TAS
GO:0005783	Component	Endoplasmic reticulum	IDA	32944968
GO:0006085	Process	Acetyl-CoA biosynthetic process	IDA	17371050
GO:0006550	Process	L-isoleucine catabolic process	IMP	1979337, 8103405
GO:0006550	Process	L-isoleucine catabolic process	TAS	17371050
GO:0006629	Process	Lipid metabolic process	IEA
GO:0006631	Process	Fatty acid metabolic process	IEA
GO:0006635	Process	Fatty acid beta-oxidation	IEA
GO:0009725	Process	Response to hormone	IEA
GO:0015936	Process	Coenzyme A metabolic process	IDA	17371050
GO:0015937	Process	Coenzyme A biosynthetic process	IDA	17371050
GO:0016453	Function	C-acetyltransferase activity	IDA	17371050
GO:0016740	Function	Transferase activity	IEA
GO:0016746	Function	Acyltransferase activity	IEA
GO:0016747	Function	Acyltransferase activity, transferring groups other than amino-acyl groups	IEA
GO:0019899	Function	Enzyme binding	IEA
GO:0030955	Function	Potassium ion binding	IDA	17371050
GO:0034736	Function	Cholesterol O-acyltransferase activity	IDA	32944968
GO:0042594	Process	Response to starvation	IEA
GO:0042802	Function	Identical protein binding	IEA
GO:0046356	Process	Acetyl-CoA catabolic process	IDA	17371050
GO:0046872	Function	Metal ion binding	IEA
GO:0046952	Process	Ketone body catabolic process	IMP	1979337
GO:0060612	Process	Adipose tissue development	IEA
GO:0070062	Component	Extracellular exosome	HDA	19056867, 23533145
GO:0072229	Process	Metanephric proximal convoluted tubule development	IEA
GO:0120225	Function	Coenzyme A binding	IEA
GO:1902224	Process	Ketone body metabolic process	IC	17371050
GO:1902860	Process	Propionyl-CoA biosynthetic process	IDA	17371050

MIM	HGNC	e!Ensembl
607809	93	ENSG00000075239

P24752

Protein name

Acetyl-CoA acetyltransferase, mitochondrial (EC 2.3.1.9) (Acetoacetyl-CoA thiolase) (T2)

Protein function

This is one of the enzymes that catalyzes the last step of the mitochondrial beta-oxidation pathway, an aerobic process breaking down fatty acids into acetyl-CoA (PubMed:1715688, PubMed:7728148, PubMed:9744475). Using free coenzyme A/CoA, cataly

PDB

2F2S , 2IB7 , 2IB8 , 2IB9 , 2IBU , 2IBW , 2IBY

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00108	Thiolase_N	42 → 299	Thiolase, N-terminal domain	Domain
PF02803	Thiolase_C	306 → 426	Thiolase, C-terminal domain	Domain

Sequence

MAVLAALLRSGARSRSPLLRRLVQEIRYVERSYVSKPTLKEVVIVSATRTPIGSFLGSLS
LLPATKLGSIAIQGAIEKAGIPKEEVKEAYMGNVLQGGEGQAPTRQAVLGAGLPISTPCT
TINKVCASGMKAIMMASQSLMCGHQDVMVAGGMESMSNVPYVMNRGSTPYGGVKLEDLIV
KDGLTDVYNKIHMGSCAENTAKKLNIARNEQDAYAINSYTRSKAAWEAGKFGNEVIPVTV
TVKGQPDVVVKEDEEYKRVDFSKVPKLKTVFQKENGTVTAANASTLNDGAAALVLMTADA
AKRLNVTPLARIVAFADAAVEPIDFPIAPVYAASMVLKDVGLKKEDIAMWEVNEAFSLVV
LANIKMLEIDPQKVNINGGAVSLGHPIGMSGARIVGHLTHALKQGEYGLASICNGGGGAS
AMLIQKL

Sequence length

427

Interactions

View interactions

	KEGG		Reactome
	Fatty acid degradation Valine, leucine and isoleucine degradation Lysine degradation Tryptophan metabolism Pyruvate metabolism Glyoxylate and dicarboxylate metabolism Butanoate metabolism Terpenoid backbone biosynthesis Metabolic pathways Carbon metabolism Fatty acid metabolism Fat digestion and absorption		Branched-chain amino acid catabolism Utilization of Ketone Bodies Synthesis of Ketone Bodies

730

Show/Hide Causal Diseases (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
ACAT1-related disorder	Likely pathogenic; Pathogenic	rs886041122, rs373771053, rs148639841	RCV003417871 RCV003396461 RCV003915046
Deficiency of acetyl-CoA acetyltransferase	Likely pathogenic; Pathogenic	rs2134797745, rs2135334849, rs1201662412, rs761038005, rs1565293957, rs2134791556, rs1423476705, rs1565298653, rs2135334430, rs2135336077, rs1565288701, rs2134791703, rs2135334862, rs752216720, rs2134791667 View all (156 more)	RCV001378187 RCV001385938 RCV001388338 RCV001387582 RCV001381648 RCV001390020 RCV001385168 RCV001381721 RCV001647335 RCV001647337 RCV001647336 RCV001647338 RCV001805743 RCV001806313 RCV001936720 RCV001895878 RCV001957791 RCV001991912 RCV001994526 RCV002017830 RCV001939398 RCV001960646 RCV002042397 RCV001953780 RCV002014601 RCV002025782 RCV001922349 RCV001931272 RCV001953420 RCV002030148 RCV001900561 RCV001998899 RCV001878544 RCV001959024 RCV001935890 RCV001913414 RCV001963701 RCV002238660 RCV002283674 RCV000179238 RCV000180090 RCV000002966 RCV000002967 RCV000002969 RCV000002971 RCV000002972 RCV000002973 RCV000002974 RCV000002975 RCV000002976 RCV000002977 RCV000002978 RCV000002979 RCV002472124 RCV003100588 RCV003112223 RCV000779680 RCV000179237 RCV002575914 RCV002781120 RCV000190421 RCV002791000 RCV002828055 RCV002811084 RCV002833996 RCV002838687 RCV002848197 RCV003022910 RCV003016768 RCV003046334 RCV003044420 RCV003039225 RCV003055578 RCV000239383 RCV003226625 RCV000844818 RCV003474425 RCV003474437 RCV003460276 RCV003460279 RCV003460280 RCV003460285 RCV003460287 RCV003460290 RCV003460291 RCV003460295 RCV003460296 RCV003460297 RCV003460302 RCV003501196 RCV003501161 RCV003498971 RCV003499744 RCV003500033 RCV003500147 RCV003500484 RCV003605968 RCV003606208 RCV003606430 RCV003606393 RCV003605523 RCV003605530 RCV003606633 RCV003839079 RCV003839361 RCV003836235 RCV003873675 RCV004547359 RCV004566519 RCV004575437 RCV004575440 RCV004575442 RCV000689417 RCV000002970 RCV000662283 RCV000844832 RCV000721971 RCV000780811 RCV000799776 RCV000844765 RCV000844766 RCV000844767 RCV000844768 RCV000844769 RCV000844770 RCV000844774 RCV000844776 RCV000844780 RCV000844781 RCV000844782 RCV000844783 RCV000844784 RCV000844785 RCV000844786 RCV000844787 RCV000844789 RCV000844791 RCV000844793 RCV000844794 RCV000844795 RCV000844799 RCV000844798 RCV000844801 RCV000844805 RCV000844804 RCV000844806 RCV000844814 RCV000844817 RCV000844819 RCV000844823 RCV000844829 RCV000844830 RCV000844831 RCV000844833 RCV000844834 RCV000844835 RCV000844836 RCV000844837 RCV000844838 RCV000844841 RCV000844842 RCV000844843 RCV000844844 RCV000844772 RCV000844771 RCV000844779 RCV000844788 RCV000844802 RCV000844803 RCV000844811 RCV000844812 RCV000844820 RCV000844821 RCV000844828 RCV000985044 RCV001071621 RCV001064187 RCV001058332 RCV001042879 RCV001045131 RCV001196560 RCV001212068 RCV000179235 RCV001193469 RCV002515751
Sarcoma	Pathogenic	rs145229472	RCV005887228

Show/Hide Unknown Diseases (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Familial cancer of breast	Likely benign	rs1409314804	RCV005921107
Lung cancer	Conflicting classifications of pathogenicity	rs150038447	RCV005891939
Malignant tumor of esophagus	Conflicting classifications of pathogenicity	rs150038447	RCV005891938

Show/Hide Text Mining Associations (45)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Adenocarcinoma of Lung	Associate	39323079
Alzheimer Disease	Associate	17412327
Atherosclerosis	Associate	11461099, 11529503, 16474185, 19189937, 24028971
Atrial Fibrillation	Associate	31894294
Beta ketothiolase deficiency	Associate	1362011, 20046049, 29624230, 34001203, 40598206
Beta ketothiolase deficiency	Inhibit	1979337
Carcinoma Hepatocellular	Associate	33865459, 33990561, 37957550
Carcinoma Ovarian Epithelial	Associate	35399074
Carcinoma Renal Cell	Associate	25315187, 38297313
Cerebral Infarction	Associate	24577316
Chanarin Dorfman Syndrome	Associate	40225143
Colonic Neoplasms	Associate	29793481
Colorectal Neoplasms	Associate	29793481, 31949199, 34071236, 35172832, 39940954
Coronary Artery Disease	Associate	24577316
COVID 19	Associate	37134108
Developmental Disabilities	Associate	34001203
Gangliosidosis GM1	Associate	20157782
Gaucher Disease	Associate	26027833
Glioblastoma	Associate	20404512
Glioma	Associate	20404512
Hyperglycemia	Associate	29793481
Hyperlipoproteinemia Type II	Associate	22243772
Hypertension	Associate	36626481
Inflammation	Associate	29801502, 36307855
Ketosis	Associate	29624230, 40598206
Light Fixation Seizure Syndrome	Associate	33649397
Lymphatic Metastasis	Associate	29793481
Lymphoma	Stimulate	36436934
Mitral Valve Insufficiency	Associate	36307855
Neoplasm Metastasis	Associate	29793481, 35428233
Neoplasms	Associate	23082721, 26055977, 27796716, 31978092, 33990561, 36444610, 38297313
Neoplasms	Inhibit	39323079
Obesity	Associate	23109900
Osteosarcoma	Associate	32862606
Ovarian Neoplasms	Associate	31978092
Overweight	Associate	23109900
Pneumonia	Stimulate	20870032
Precancerous Conditions	Associate	33990561
Prostate cancer familial	Associate	31978092
Prostatic Neoplasms	Stimulate	23443136, 36517760
Prostatic Neoplasms	Associate	28877685, 33103371, 33298586, 33509203, 36517760
Prostatic Neoplasms Castration Resistant	Associate	33298586
Squamous Cell Carcinoma of Head and Neck	Associate	36444610
Urinary Bladder Neoplasms	Associate	37954600
Uterine Neoplasms	Associate	25639359

ACAT1 (acetyl-CoA acetyltransferase 1)