ACAT1 (acetyl-CoA acetyltransferase 1)

Gene

• Entrez ID: 38
• Gene name: Acetyl-CoA acetyltransferase 1
• Gene symbol: ACAT1
• Synonyms (NCBI Gene): ACAT, MAT, T2, THIL
• 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

SNPs

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

miRNA

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 assay, qRT-PCR, Western blot	24028971
MIRT030744	hsa-miR-21-5p	Western blotting, qRT-PCR, ELISA	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

Transcription factors

Transcription factor	Regulation	Reference
PPARG	Activation	19049899
STAT1	Unknown	18000807

Gene ontology (GO)

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

Other IDs

• MIM: 607809
• HGNC: 93
• e!Ensembl: ENSG00000075239

Protein

• UniProt ID: 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

Pathways

KEGG:

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

Reactome:

Branched-chain amino acid catabolism
Utilization of Ketone Bodies
Synthesis of Ketone Bodies

Associated diseases

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)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
ACAT1-related disorder	Likely pathogenic; Pathogenic	rs886041122, rs373771053, rs148639841	RCV003417871 RCV003396461 RCV003915046	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Deficiency of acetyl-CoA acetyltransferase	Likely pathogenic; Pathogenic	rs2134797745, rs2135334849, rs1201662412, rs761038005, rs1565293957, rs2134791556, rs1423476705, rs1565298653, rs2135334430, rs2135336077, rs1565288701, rs2134791703, rs2135334862, rs752216720, rs2134791667, rs2134772571, rs2134791752, rs112950994, rs2134761257, rs779908220, rs2134768688, rs2134768866, rs2134773243, rs1444451434, rs2077590197, rs2135334384, rs2135341631, rs746332363, rs2135356039, rs2134780623, rs2135336400, rs1415293773, rs2134768525, rs1565281236, rs1163072872, rs377295639, rs748425041, rs120074148, rs727503795, rs727503796, rs120074140, rs120074141, rs145229472, rs1280110907, rs120074142, rs120074143, rs120074144, rs387906282, rs387906283, rs120074145, rs120074146, rs120074147, rs2496591869, rs749376259, rs2496622641, rs762991875, rs199524907, rs1476922493, rs774418317, rs779565865, rs764568533, rs2496584780, rs2496585397, rs2496591603, rs2496581445, rs1277676635, rs2496613617, rs2496570243, rs2496620348, rs1591362483, rs2077368830, rs2496636048, rs879255505, rs886041122, rs2077446835, rs2496631494, rs2496622595, rs2496584464, rs2496622561, rs2496516251, rs2496621306, rs2496647256, rs2496621154, rs2496581613, rs2496621683, rs2496659335, rs2496646864, rs2135341565, rs2496592074, rs2496667151, rs2496631337, rs2496636315, rs2077527784, rs2496621741, rs2496581880, rs2496621601, rs1305448140, rs1268424543, rs1591367485, rs1346954123, rs2496592286, rs2135355722, rs1401882647, rs773491386, rs2496630751, rs2496582044, rs2496591844, rs532190594, rs1131691567, rs748303093, rs781496140, rs1565297769, rs1476273214, rs1591362402, rs1591360326, rs749873354, rs1591360348, rs1469248513, rs779758622, rs1233969418, rs1591363674, rs1591363715, rs1037467160, rs1278227329, rs1591363760, rs1591363786, rs1591363800, rs1025180934, rs1591367375, rs1591367422, rs1591367592, rs541517496, rs1591368794, rs1437567292, rs1385465985, rs765961551, rs1591370221, rs983216159, rs750195919, rs1420321267, rs780486838, rs1591374544, rs1591374552, rs1565297723, rs1338023969, rs1591374629, rs1591374632, rs373771053, rs1184088336, rs1591375843, rs1591375882, rs1591361903, rs1591361919, rs1591362533, rs1591363834, rs1591368919, rs1591370141, rs1591370366, rs1410743762, rs1591371185, rs980651269, rs1591363795, rs761282960, rs1367121673, rs2077737059, rs963023006, rs1318268067, rs2077411287, rs148639841, rs398123096, rs398123097	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	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Sarcoma	Pathogenic	rs145229472	RCV005887228	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
BETA KETOTHIOLASE DEFICIENCY	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BETA-KETOTHIOLASE DEFICIENCY	—	ClinGen, GWAS catalog, Orphanet ClinGen, GWAS catalog, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARBOHYDRATE METABOLISM, INBORN ERRORS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DISORDER OF CARBOHYDRATE METABOLISM	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KIDNEY FAILURE, CHRONIC	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER CIRRHOSIS, EXPERIMENTAL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEIZURES	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations