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	593
Gene name	Branched chain keto acid dehydrogenase E1 subunit alpha
Gene symbol	BCKDHA
Synonyms (NCBI Gene)	BCKDE1AMSUMSUD1MSUD1AOVD1A
Chromosome	19
Chromosome location	19q13.2
Summary	The branched-chain alpha-keto acid (BCAA) dehydrogenase (BCKD) complex is an innter mitochondrial enzyme complex that catalyzes the second major step in the catabolism of the branched-chain amino acids leucine, isoleucine, and valine. The BCKD complex con

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SNP ID	Visualize variation	Clinical significance	Consequence
rs137852870	T>A	Pathogenic-likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs137852871	G>A,C	Pathogenic-likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs137852872	T>G	Pathogenic	Coding sequence variant, missense variant
rs137852873	C>T	Conflicting-interpretations-of-pathogenicity, pathogenic	Coding sequence variant, missense variant
rs137852874	G>A	Pathogenic	Coding sequence variant, missense variant
rs137852875	C>G	Pathogenic	Coding sequence variant, missense variant
rs137852876	C>G	Pathogenic	Coding sequence variant, missense variant
rs146932786	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs147021347	C>G,T	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs151227241	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs182923857	C>T	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs199599175	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs201168715	G>A,T	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant, stop gained
rs367823977	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs373336888	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs373390136	C>A,G,T	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs373713279	C>A	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs374625613	C>T	Likely-pathogenic	Coding sequence variant, stop gained
rs375785084	C>T	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs376456598	C>A	Likely-pathogenic	Coding sequence variant, stop gained
rs398123486	G>A	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs398123489	C>-,CC,CCC	Pathogenic	Coding sequence variant, frameshift variant
rs398123490	G>A	Pathogenic-likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs398123491	C>A,T	Likely-benign, pathogenic	Stop gained, coding sequence variant, synonymous variant
rs398123492	AC>-	Pathogenic	Coding sequence variant, frameshift variant
rs398123493	C>A	Pathogenic	Stop gained, coding sequence variant
rs398123496	G>A	Pathogenic-likely-pathogenic, pathogenic	Splice donor variant
rs398123497	C>T	Conflicting-interpretations-of-pathogenicity, pathogenic	Intron variant
rs398123499	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs398123503	C>T	Pathogenic-likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs398123504	->T	Pathogenic	Coding sequence variant, frameshift variant
rs398123505	TCT>-	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Inframe deletion, coding sequence variant
rs398123508	G>C	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs398123509	A>C	Pathogenic	Coding sequence variant, missense variant
rs398123510	GT>-	Pathogenic	Coding sequence variant, frameshift variant
rs398123512	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs398123513	C>T	Pathogenic	Stop gained, coding sequence variant
rs398123514	C>G,T	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, missense variant, synonymous variant
rs398123515	G>A	Pathogenic-likely-pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs753216964	G>C	Likely-pathogenic, pathogenic	Splice acceptor variant
rs753698250	C>A,T	Pathogenic	Synonymous variant, stop gained, coding sequence variant
rs760494152	A>G	Pathogenic	Splice acceptor variant, intron variant
rs762084007	C>-	Pathogenic-likely-pathogenic	Coding sequence variant, frameshift variant
rs762199542	C>T	Pathogenic	Coding sequence variant, stop gained
rs764247545	C>G,T	Pathogenic	Missense variant, coding sequence variant, stop gained
rs765543886	G>A	Likely-pathogenic	Coding sequence variant, stop gained
rs773048903	G>A	Pathogenic	Missense variant, coding sequence variant
rs794727847	AGGCCCCG>-	Pathogenic	Frameshift variant, coding sequence variant
rs796051938	TACG>-	Likely-pathogenic, pathogenic	Frameshift variant, coding sequence variant
rs863225262	A>T	Pathogenic-likely-pathogenic	Coding sequence variant, stop gained
rs869312124	G>C	Pathogenic	Missense variant, coding sequence variant
rs869312125	A>C	Pathogenic	Missense variant, coding sequence variant
rs1057519059	C>AA	Pathogenic	Coding sequence variant, frameshift variant
rs1330793674	CAGCACCA>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1555765593	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555766066	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1555766993	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555767028	G>T	Likely-pathogenic	Splice donor variant
rs1555767090	->A	Likely-pathogenic	Coding sequence variant, stop gained
rs1555767169	G>-	Likely-pathogenic	Coding sequence variant, splice donor variant
rs1555767285	A>G	Likely-pathogenic	Splice acceptor variant
rs1568503938	T>C	Pathogenic	Coding sequence variant, missense variant
rs1568506608	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs1599962569	CCAAGGCTGG>-	Likely-pathogenic	Frameshift variant, coding sequence variant

128

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miRTarBase ID	miRNA	Experiments	Reference
MIRT044243	hsa-miR-29c-3p	CLASH	23622248
MIRT041443	hsa-miR-193b-3p	CLASH	23622248
MIRT818021	hsa-miR-1185	CLIP-seq
MIRT818022	hsa-miR-1293	CLIP-seq
MIRT818023	hsa-miR-2392	CLIP-seq
MIRT818024	hsa-miR-3605-5p	CLIP-seq
MIRT818025	hsa-miR-3615	CLIP-seq
MIRT818026	hsa-miR-3679-5p	CLIP-seq
MIRT818027	hsa-miR-4483	CLIP-seq
MIRT1941782	hsa-miR-194	CLIP-seq
MIRT1941783	hsa-miR-3661	CLIP-seq
MIRT1941784	hsa-miR-3929	CLIP-seq
MIRT1941785	hsa-miR-4419b	CLIP-seq
MIRT1941786	hsa-miR-4438	CLIP-seq
MIRT1941787	hsa-miR-4478	CLIP-seq
MIRT1941788	hsa-miR-4659a-5p	CLIP-seq
MIRT1941789	hsa-miR-4659b-5p	CLIP-seq
MIRT1941790	hsa-miR-4722-3p	CLIP-seq
MIRT1941791	hsa-miR-4769-3p	CLIP-seq
MIRT1941792	hsa-miR-631	CLIP-seq
MIRT2180689	hsa-miR-3692	CLIP-seq
MIRT1941784	hsa-miR-3929	CLIP-seq
MIRT1941785	hsa-miR-4419b	CLIP-seq
MIRT1941786	hsa-miR-4438	CLIP-seq
MIRT1941787	hsa-miR-4478	CLIP-seq
MIRT2180690	hsa-miR-4656	CLIP-seq
MIRT2180691	hsa-miR-4709-3p	CLIP-seq
MIRT818021	hsa-miR-1185	CLIP-seq
MIRT818022	hsa-miR-1293	CLIP-seq
MIRT818023	hsa-miR-2392	CLIP-seq
MIRT818024	hsa-miR-3605-5p	CLIP-seq
MIRT818026	hsa-miR-3679-5p	CLIP-seq
MIRT818027	hsa-miR-4483	CLIP-seq
MIRT2484072	hsa-miR-1303	CLIP-seq
MIRT2484073	hsa-miR-1539	CLIP-seq
MIRT2484074	hsa-miR-1909	CLIP-seq
MIRT1941782	hsa-miR-194	CLIP-seq
MIRT2484075	hsa-miR-2110	CLIP-seq
MIRT2484076	hsa-miR-3127-3p	CLIP-seq
MIRT2484077	hsa-miR-3140-5p	CLIP-seq
MIRT2484078	hsa-miR-3151	CLIP-seq
MIRT2484079	hsa-miR-3160-3p	CLIP-seq
MIRT2484080	hsa-miR-3184	CLIP-seq
MIRT2484081	hsa-miR-331-3p	CLIP-seq
MIRT2484082	hsa-miR-3650	CLIP-seq
MIRT1941783	hsa-miR-3661	CLIP-seq
MIRT2180689	hsa-miR-3692	CLIP-seq
MIRT1941784	hsa-miR-3929	CLIP-seq
MIRT2484083	hsa-miR-423-5p	CLIP-seq
MIRT2484084	hsa-miR-4271	CLIP-seq
MIRT2484085	hsa-miR-4283	CLIP-seq
MIRT2484086	hsa-miR-4290	CLIP-seq
MIRT2484087	hsa-miR-4292	CLIP-seq
MIRT2484088	hsa-miR-4300	CLIP-seq
MIRT2484089	hsa-miR-4419a	CLIP-seq
MIRT1941785	hsa-miR-4419b	CLIP-seq
MIRT1941786	hsa-miR-4438	CLIP-seq
MIRT1941787	hsa-miR-4478	CLIP-seq
MIRT2484090	hsa-miR-4481	CLIP-seq
MIRT2484091	hsa-miR-4489	CLIP-seq
MIRT2484092	hsa-miR-4510	CLIP-seq
MIRT2484093	hsa-miR-4540	CLIP-seq
MIRT2484094	hsa-miR-455-5p	CLIP-seq
MIRT2484095	hsa-miR-4632	CLIP-seq
MIRT1941788	hsa-miR-4659a-5p	CLIP-seq
MIRT1941789	hsa-miR-4659b-5p	CLIP-seq
MIRT2484096	hsa-miR-4667-5p	CLIP-seq
MIRT2484097	hsa-miR-4700-5p	CLIP-seq
MIRT2180691	hsa-miR-4709-3p	CLIP-seq
MIRT1941790	hsa-miR-4722-3p	CLIP-seq
MIRT2484098	hsa-miR-4725-3p	CLIP-seq
MIRT2484099	hsa-miR-4745-5p	CLIP-seq
MIRT1941791	hsa-miR-4769-3p	CLIP-seq
MIRT2484100	hsa-miR-496	CLIP-seq
MIRT2484101	hsa-miR-554	CLIP-seq
MIRT2484102	hsa-miR-626	CLIP-seq
MIRT1941792	hsa-miR-631	CLIP-seq
MIRT2484103	hsa-miR-7	CLIP-seq
MIRT2484104	hsa-miR-765	CLIP-seq
MIRT2484105	hsa-miR-877	CLIP-seq
MIRT2484106	hsa-miR-885-3p	CLIP-seq
MIRT2484107	hsa-miR-920	CLIP-seq
MIRT2484072	hsa-miR-1303	CLIP-seq
MIRT2484073	hsa-miR-1539	CLIP-seq
MIRT2484074	hsa-miR-1909	CLIP-seq
MIRT1941782	hsa-miR-194	CLIP-seq
MIRT2484075	hsa-miR-2110	CLIP-seq
MIRT2484076	hsa-miR-3127-3p	CLIP-seq
MIRT2484077	hsa-miR-3140-5p	CLIP-seq
MIRT2484079	hsa-miR-3160-3p	CLIP-seq
MIRT2484080	hsa-miR-3184	CLIP-seq
MIRT2484081	hsa-miR-331-3p	CLIP-seq
MIRT2484082	hsa-miR-3650	CLIP-seq
MIRT1941783	hsa-miR-3661	CLIP-seq
MIRT2180689	hsa-miR-3692	CLIP-seq
MIRT1941784	hsa-miR-3929	CLIP-seq
MIRT2484083	hsa-miR-423-5p	CLIP-seq
MIRT2484084	hsa-miR-4271	CLIP-seq
MIRT2484086	hsa-miR-4290	CLIP-seq
MIRT2484087	hsa-miR-4292	CLIP-seq
MIRT2484088	hsa-miR-4300	CLIP-seq
MIRT2484089	hsa-miR-4419a	CLIP-seq
MIRT1941785	hsa-miR-4419b	CLIP-seq
MIRT1941786	hsa-miR-4438	CLIP-seq
MIRT1941787	hsa-miR-4478	CLIP-seq
MIRT2484090	hsa-miR-4481	CLIP-seq
MIRT2484092	hsa-miR-4510	CLIP-seq
MIRT2484093	hsa-miR-4540	CLIP-seq
MIRT2484094	hsa-miR-455-5p	CLIP-seq
MIRT2484095	hsa-miR-4632	CLIP-seq
MIRT1941788	hsa-miR-4659a-5p	CLIP-seq
MIRT1941789	hsa-miR-4659b-5p	CLIP-seq
MIRT2484096	hsa-miR-4667-5p	CLIP-seq
MIRT2484097	hsa-miR-4700-5p	CLIP-seq
MIRT2180691	hsa-miR-4709-3p	CLIP-seq
MIRT1941790	hsa-miR-4722-3p	CLIP-seq
MIRT2484098	hsa-miR-4725-3p	CLIP-seq
MIRT2484099	hsa-miR-4745-5p	CLIP-seq
MIRT1941791	hsa-miR-4769-3p	CLIP-seq
MIRT2484100	hsa-miR-496	CLIP-seq
MIRT2484101	hsa-miR-554	CLIP-seq
MIRT2484102	hsa-miR-626	CLIP-seq
MIRT1941792	hsa-miR-631	CLIP-seq
MIRT2484103	hsa-miR-7	CLIP-seq
MIRT2484104	hsa-miR-765	CLIP-seq
MIRT2484105	hsa-miR-877	CLIP-seq
MIRT2484106	hsa-miR-885-3p	CLIP-seq
MIRT2484107	hsa-miR-920	CLIP-seq

Show/Hide all (24)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003863	Function	Branched-chain 2-oxo acid dehydrogenase activity	IDA	9582350, 10745006
GO:0003863	Function	Branched-chain 2-oxo acid dehydrogenase activity	IDA	7883996
GO:0003863	Function	Branched-chain 2-oxo acid dehydrogenase activity	IEA
GO:0005515	Function	Protein binding	IPI	10745006, 12902323, 15166214, 15576032, 28514442, 33961781
GO:0005739	Component	Mitochondrion	HDA	20833797
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IEA
GO:0005739	Component	Mitochondrion	TAS	11839747
GO:0005759	Component	Mitochondrial matrix	IEA
GO:0005759	Component	Mitochondrial matrix	ISS
GO:0005759	Component	Mitochondrial matrix	NAS	3593587
GO:0005759	Component	Mitochondrial matrix	TAS
GO:0009083	Process	Branched-chain amino acid catabolic process	IBA
GO:0009083	Process	Branched-chain amino acid catabolic process	IDA	3593587, 7883996
GO:0009083	Process	Branched-chain amino acid catabolic process	IMP	9582350
GO:0016491	Function	Oxidoreductase activity	IEA
GO:0016624	Function	Oxidoreductase activity, acting on the aldehyde or oxo group of donors, disulfide as acceptor	IEA
GO:0016831	Function	Carboxy-lyase activity	TAS	11839747
GO:0046872	Function	Metal ion binding	IEA
GO:0120552	Process	Branched-chain alpha-keto acid decarboxylation to branched-chain acyl-CoA	IDA	3593587
GO:0120552	Process	Branched-chain alpha-keto acid decarboxylation to branched-chain acyl-CoA	IMP	10745006
GO:0160157	Component	Branched-chain alpha-ketoacid dehydrogenase complex	IBA
GO:0160157	Component	Branched-chain alpha-ketoacid dehydrogenase complex	IDA	7883996, 9582350, 10745006
GO:0160157	Component	Branched-chain alpha-ketoacid dehydrogenase complex	IPI	3593587

MIM	HGNC	e!Ensembl
608348	986	ENSG00000248098

P12694

Protein name

2-oxoisovalerate dehydrogenase subunit alpha, mitochondrial (EC 1.2.4.4) (Branched-chain alpha-keto acid dehydrogenase E1 component alpha chain) (BCKDE1A) (BCKDH E1-alpha)

Protein function

Together with BCKDHB forms the heterotetrameric E1 subunit of the mitochondrial branched-chain alpha-ketoacid dehydrogenase (BCKD) complex. The BCKD complex catalyzes the multi-step oxidative decarboxylation of alpha-ketoacids derived from the b

PDB

1DTW , 1OLS , 1OLU , 1OLX , 1U5B , 1V11 , 1V16 , 1V1M , 1V1R , 1WCI , 1X7W , 1X7X , 1X7Y , 1X7Z , 1X80 , 2BEU , 2BEV , 2BEW , 2BFB , 2BFC , 2BFD , 2BFE , 2BFF , 2J9F

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00676	E1_dh	106 → 406	Dehydrogenase E1 component	Family

Sequence

MAVAIAAARVWRLNRGLSQAALLLLRQPGARGLARSHPPRQQQQFSSLDDKPQFPGASAE
FIDKLEFIQPNVISGIPIYRVMDRQGQIINPSEDPHLPKEKVLKLYKSMTLLNTMDRILY
ESQRQGRISFYMTNYGEEGTHVGSAAALDNTDLVFGQYREAGVLMYRDYPLELFMAQCYG
NISDLGKGRQMPVHYGCKERHFVTISSPLATQIPQAVGAAYAAKRANANRVVICYFGEGA
ASEGDAHAGFNFAATLECPIIFFCRNNGYAISTPTSEQYRGDGIAARGPGYGIMSIRVDG
NDVFAVYNATKEARRRAVAENQPFLIEAMTYRIGHHSTSDDSSAYRSVDEVNYWDKQDHP
ISRLRHYLLSQGWWDEEQEKAWRKQSRRKVMEAFEQAERKPKPNPNLLFSDVYQEMPAQL
RKQQESLARHLQTYGEHYPLDHFDK

Sequence length

445

Interactions

View interactions

	KEGG		Reactome
	Valine, leucine and isoleucine degradation Propanoate metabolism Lipoic acid metabolism Metabolic pathways 2-Oxocarboxylic acid metabolism		Glyoxylate metabolism and glycine degradation Branched-chain amino acid catabolism

968

Show/Hide Causal Diseases (8)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
BCKDHA-related disorder	Likely pathogenic; Pathogenic	rs369448982	RCV003892844
Cervical cancer	Pathogenic	rs398123508	RCV005886256
Familial cancer of breast	Likely pathogenic	rs756052603	RCV005934651
Likely inborn error of metabolism	Pathogenic	rs398123489	RCV005865250
Malignant tumor of esophagus	Likely pathogenic	rs558254502	RCV005930523
Maple syrup urine disease	Likely pathogenic; Pathogenic	rs2039383036, rs2123253583, rs761996996, rs2098470870, rs398123489, rs1220443382, rs2122142979, rs1318419473, rs1298823471, rs2122146680, rs369448982, rs2122143379, rs2122122667, rs2123232744, rs137852870 View all (123 more)	RCV002642394 RCV001378292 RCV001376744 RCV001378139 RCV001389698 RCV001380797 RCV001388645 RCV001387039 RCV001385732 RCV001580640 RCV001780680 RCV001785342 RCV001837053 RCV001839175 RCV001848605 RCV001950826 RCV002040176 RCV002008317 RCV001954865 RCV001919750 RCV001951278 RCV002043368 RCV002018388 RCV001984178 RCV002043878 RCV002249293 RCV000055825 RCV000179775 RCV001378888 RCV001064270 RCV002222336 RCV000984155 RCV002308594 RCV002306580 RCV002306807 RCV002309961 RCV002307977 RCV002308121 RCV002307216 RCV002310105 RCV002310213 RCV002310363 RCV003078024 RCV002579160 RCV003083151 RCV000179782 RCV002621450 RCV000408793 RCV000209796 RCV000209016 RCV000209700 RCV000202366 RCV002736209 RCV002819464 RCV002852413 RCV002857744 RCV002903690 RCV003019195 RCV003014725 RCV000209887 RCV003155795 RCV003388964 RCV003465149 RCV003465150 RCV003465152 RCV003465153 RCV003465154 RCV003465155 RCV003465156 RCV003465157 RCV003465159 RCV003465160 RCV003465161 RCV003465162 RCV003465164 RCV003465165 RCV003523882 RCV003524117 RCV003524329 RCV003522340 RCV003523581 RCV003524677 RCV003636141 RCV003636350 RCV003637012 RCV003637121 RCV003637296 RCV003637812 RCV003637895 RCV003636548 RCV003636808 RCV003838017 RCV000409408 RCV000415547 RCV000670031 RCV000668125 RCV000526694 RCV001379040 RCV000601066 RCV000625789 RCV000669276 RCV000674422 RCV000669536 RCV000674650 RCV000673741 RCV000672950 RCV000673876 RCV000672530 RCV000665755 RCV000674875 RCV000673920 RCV000694889 RCV000761534 RCV000761473 RCV000785061 RCV000792298 RCV001035319 RCV001197612 RCV001216538 RCV001209953 RCV001204854 RCV001235560 RCV001244572 RCV001264340 RCV001264341 RCV001263561 RCV001263562 RCV001263563 RCV000180182 RCV000175640 RCV000180522 RCV003460745 RCV001854397 RCV000175639 RCV000175638 RCV001854398 RCV000178794 RCV000179335 RCV002514395 RCV000179337 RCV000664897 RCV001283857 RCV002514396 RCV001854399 RCV000179779
Maple syrup urine disease type 1A	Likely pathogenic; Pathogenic	rs2039383036, rs761996996, rs369448982, rs2123232769, rs2122143379, rs137852870, rs2122122610, rs137852871, rs137852874, rs137852875, rs398123489, rs2513443919, rs794727847, rs773048903, rs863225262 View all (52 more)	RCV004571195 RCV004570920 RCV004571095 RCV005630285 RCV005630384 RCV004764804 RCV005017161 RCV000002473 RCV001175041 RCV004566673 RCV005016224 RCV001826819 RCV005608877 RCV000002474 RCV004567386 RCV005025306 RCV005019359 RCV001194035 RCV005021988 RCV004574040 RCV005021989 RCV004574041 RCV005622238 RCV005014841 RCV005014910 RCV004575398 RCV004575399 RCV004575400 RCV004575401 RCV004575402 RCV004575403 RCV004567877 RCV005018835 RCV000587694 RCV001834747 RCV001829666 RCV004568334 RCV004568341 RCV005430621 RCV001835912 RCV001829858 RCV001830465 RCV005430718 RCV005430776 RCV005430722 RCV005430752 RCV005430625 RCV004568561 RCV005430733 RCV005253051 RCV005430420 RCV004568570 RCV004568562 RCV005401692 RCV005630376 RCV005606784 RCV004570652 RCV004566948 RCV001193901 RCV000853374 RCV004566949 RCV001275909 RCV001275910 RCV004566950 RCV003982876 RCV001831820 RCV001275916 RCV004566952 RCV004813052 RCV005867857 RCV001275918
Thyroid cancer, nonmedullary, 1	Likely pathogenic	rs756052603	RCV005934652

Show/Hide Unknown Diseases (5)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Benign	rs149899007	RCV005886252
Adrenocortical carcinoma, hereditary	Benign	rs149899007	RCV005886254
Intellectual disability	Uncertain significance	rs201109190	RCV001249493
Nonpapillary renal cell carcinoma	Benign	rs149899007	RCV005886253
Sarcoma	Likely benign; Uncertain significance	rs372967761, rs546655391	RCV005926214 RCV005901252

Show/Hide Text Mining Associations (23)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Carcinogenesis	Associate	36417878
Carcinoma Embryonal	Associate	3025625
Carcinoma Hepatocellular	Associate	36417878
Cytomegalovirus Infections	Associate	23792576
Diabetes Mellitus Type 2	Associate	16757574
Drug Related Side Effects and Adverse Reactions	Associate	15451459, 23792576, 8764048
Eosinophilic Esophagitis	Associate	35897808
Fatigue Syndrome Chronic	Associate	33669532
Fibrosarcoma	Associate	7525602
Glioblastoma	Associate	24196438
Infections	Associate	25525796
Lactic Acidosis Congenital Infantile Due To LAD Deficiency	Associate	33131499
Maple Syrup Urine Disease	Associate	11112664, 11507102, 14742428, 1867199, 1885764, 19715473, 20136525, 2060625, 2316528, 24268812, 24603436, 2703538, 2914958, 29366676, 31775088 View all (9 more)
Melanoma	Associate	7525602
Neoplasms	Associate	15451459, 16222119, 19586787, 23792576, 25525796, 2580935, 6492253, 6632083
Neoplasms	Stimulate	29855511
Neoplasms	Inhibit	7525602
Neurodegenerative Diseases	Associate	35897808
Obesity	Associate	16757574
Osteosarcoma	Associate	7525602
Polyomavirus Infections	Associate	3025625
Pyruvate Dehydrogenase Complex Deficiency Disease	Associate	12379317, 21723463, 21895644, 22896851, 23572181, 2378353, 29445841, 30304514, 33092611, 33661577, 35038180, 35797142, 7887409, 8962591
Rhabdomyosarcoma	Associate	7525602

BCKDHA (branched chain keto acid dehydrogenase E1 subunit alpha)