BCKDHB (branched chain keto acid dehydrogenase E1 subunit beta)

Gene

• Entrez ID: 594
• Gene name: Branched chain keto acid dehydrogenase E1 subunit beta
• Gene symbol: BCKDHB
• Synonyms (NCBI Gene): BCKDE1B, BCKDH E1-beta, E1B, MSUD1B, OVD1B
• Chromosome: 6
• Chromosome location: 6q14.1
• Summary: This gene encodes the E1 beta subunit of branched-chain keto acid dehydrogenase, which is a multienzyme complex associated with the inner membrane of mitochondria. This enzyme complex functions in the catabolism of branched-chain amino acids. Mutations in

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs79761867	G>A,C	Likely-pathogenic, pathogenic-likely-pathogenic, pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs121965004	C>T	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs121965005	T>G	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs148905512	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs149766077	C>G,T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs190867671	T>A,C	Likely-pathogenic	Coding sequence variant, non coding transcript variant, intron variant, synonymous variant, 3 prime UTR variant, stop gained, genic downstream transcript variant
rs371518124	G>A,C	Uncertain-significance, pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs376293687	A>C,G	Likely-benign, uncertain-significance, benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, non coding transcript variant, coding sequence variant, intron variant
rs386834233	G>A	Pathogenic-likely-pathogenic, pathogenic, likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs386834234	G>T	Pathogenic, likely-pathogenic	Non coding transcript variant, stop gained, coding sequence variant, genic downstream transcript variant, 3 prime UTR variant, intron variant
rs398124560	G>A	Likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs398124561	C>T	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs398124562	G>A	Uncertain-significance, likely-pathogenic	Non coding transcript variant, coding sequence variant, genic downstream transcript variant, missense variant, 3 prime UTR variant, intron variant
rs398124571	G>A	Likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs398124572	AC>-	Uncertain-significance, pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant, intron variant
rs398124573	T>C,G	Pathogenic, likely-pathogenic	Synonymous variant, non coding transcript variant, coding sequence variant, stop gained
rs398124574	G>A	Pathogenic	Splice acceptor variant
rs398124576	T>G	Likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs398124577	A>T	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs398124579	C>T	Uncertain-significance, likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs398124581	C>A,G,T	Likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs398124582	A>T	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs398124586	CA>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs398124587	AG>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs398124589	G>A,C,T	Pathogenic, likely-pathogenic	Splice donor variant
rs398124592	G>T	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs398124593	T>A,C	Pathogenic, likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs398124594	C>G,T	Pathogenic-likely-pathogenic, pathogenic	Missense variant, non coding transcript variant, coding sequence variant, stop gained
rs398124596	T>G	Pathogenic, likely-pathogenic	Splice donor variant
rs398124598	C>T	Pathogenic-likely-pathogenic, pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs398124600	T>G	Likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs398124601	GGCGCGGGGCT>-,GGCGCGGGGCTGGCGCGGGGCT	Pathogenic, likely-pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant, intron variant
rs398124602	G>A	Pathogenic	Splice acceptor variant
rs398124603	C>T	Pathogenic-likely-pathogenic, pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs398124604	T>G	Uncertain-significance, likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs749033513	G>A,T	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs751599203	C>T	Conflicting-interpretations-of-pathogenicity	Intron variant, stop gained, coding sequence variant, non coding transcript variant, 3 prime UTR variant, genic downstream transcript variant
rs751953459	G>A	Pathogenic, likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs760538465	G>A,T	Likely-pathogenic, pathogenic	Splice donor variant
rs763645251	C>G	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs774306610	T>A	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs774916970	G>T	Likely-pathogenic	Non coding transcript variant, intron variant, stop gained, coding sequence variant
rs776270090	C>-	Likely-pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs776631396	C>T	Pathogenic-likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs796051939	T>A	Pathogenic, likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs797045411	A>-	Likely-pathogenic	3 prime UTR variant, genic downstream transcript variant, coding sequence variant, intron variant, frameshift variant, non coding transcript variant
rs867612284	T>-	Pathogenic	Frameshift variant, coding sequence variant, intron variant, non coding transcript variant
rs869312126	T>G	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant, non coding transcript variant
rs869312127	A>G	Pathogenic	Splice acceptor variant
rs869312128	G>A	Pathogenic	Missense variant, intron variant, initiator codon variant, non coding transcript variant
rs869312129	T>-	Pathogenic	3 prime UTR variant, genic downstream transcript variant, coding sequence variant, intron variant, frameshift variant, non coding transcript variant
rs869312130	T>A	Pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs869312131	A>G	Pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs886043103	A>T	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs940391887	T>C	Likely-pathogenic	Initiator codon variant, intron variant, missense variant, non coding transcript variant
rs962489830	G>C	Likely-pathogenic	Splice acceptor variant
rs987877790	G>C	Likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs994415333	G>A,T	Uncertain-significance, likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs1005542482	A>G,T	Likely-pathogenic	Initiator codon variant, missense variant, non coding transcript variant, intron variant
rs1057516572	T>-	Likely-pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1057516731	C>-	Likely-pathogenic	Intron variant, non coding transcript variant, coding sequence variant, frameshift variant
rs1057516781	GGCTGCCGGC>-	Likely-pathogenic	Intron variant, non coding transcript variant, coding sequence variant, frameshift variant
rs1057516795	CCTGGCGCGGG>-	Pathogenic-likely-pathogenic	Intron variant, non coding transcript variant, coding sequence variant, frameshift variant
rs1057516799	G>T	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs1057517124	C>-	Likely-pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1057517414	CAGAGGCGGCA>-	Likely-pathogenic	Intron variant, non coding transcript variant, coding sequence variant, frameshift variant
rs1060499715	G>A	Likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant, 3 prime UTR variant, intron variant, genic downstream transcript variant
rs1064796892	C>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1085307058	C>-	Likely-pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1131691399	G>A	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1167005638	->T	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs1202365275	G>A	Likely-pathogenic	Non coding transcript variant, missense variant, 3 prime UTR variant, genic downstream transcript variant, coding sequence variant, intron variant
rs1224101411	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, missense variant
rs1380402024	TTGGTGAAGAT>-	Likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1400121541	A>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1410520713	->TGAGGGGC	Pathogenic	Non coding transcript variant, intron variant, coding sequence variant, frameshift variant
rs1554180622	GGTGCTCCGCCCTCCCCGCAGGCGGCGTGCGGCTGCATAGCCTGAGAATCCCGGTGGTGAGCGGGGATGGCGGTTGTAGCGGCGGCTGCCGGCTGGCTACTCAGGCTCAGGGCGGCAGGGGCTGAGGGGCACTGGCGTCGGCTTCCTGGCGCGGGGCTGGCGCGGGGCTTTTTGCACCCCGCCGCGACTGTCGAGGATGCGGCCCAGAGGCGGCAGGTGGCTCATTTTACTTTCCAGCCAGATCCGGAGCCCCGG	Pathogenic	Splice donor variant, upstream transcript variant, non coding transcript variant, initiator codon variant, 5 prime UTR variant, genic upstream transcript variant, intron variant
rs1554181192	C>T	Likely-pathogenic	Stop gained, coding sequence variant, non coding transcript variant, intron variant
rs1554181203	G>C,T	Likely-pathogenic	Splice donor variant, intron variant
rs1554184224	A>G	Pathogenic, likely-pathogenic	Splice acceptor variant
rs1554184237	T>G	Likely-pathogenic	Splice donor variant
rs1554189447	->A	Likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1554190322	G>A	Likely-pathogenic	Splice donor variant
rs1554194690	GATGTTACTCTAGT>-	Likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1554205499	A>G	Likely-pathogenic	Splice acceptor variant
rs1554205506	A>-	Likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1554205541	C>T	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, non coding transcript variant
rs1582146275	AGAATCCCGGTGGTGAGCGGGGATGG>-	Likely-pathogenic	5 prime UTR variant, frameshift variant, splice donor variant, initiator codon variant, non coding transcript variant, intron variant
rs1582146989	->TTCCTGGCAGGGGCTGAGGA	Pathogenic	Inframe indel, non coding transcript variant, coding sequence variant, intron variant, stop gained
rs1582275277	A>T	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT001381	hsa-miR-1-3p	pSILAC	18668040
MIRT001381	hsa-miR-1-3p	Proteomics;Other	18668040
MIRT818028	hsa-miR-3152-3p	CLIP-seq
MIRT818029	hsa-miR-338-5p	CLIP-seq
MIRT818030	hsa-miR-3647-3p	CLIP-seq
MIRT818031	hsa-miR-3668	CLIP-seq
MIRT818032	hsa-miR-4666-3p	CLIP-seq
MIRT818033	hsa-miR-4666-5p	CLIP-seq
MIRT818034	hsa-miR-4738-3p	CLIP-seq
MIRT818035	hsa-miR-4766-5p	CLIP-seq
MIRT818036	hsa-miR-1299	CLIP-seq
MIRT818037	hsa-miR-140-5p	CLIP-seq
MIRT818038	hsa-miR-148a	CLIP-seq
MIRT818039	hsa-miR-148b	CLIP-seq
MIRT818040	hsa-miR-152	CLIP-seq
MIRT818041	hsa-miR-203	CLIP-seq
MIRT818042	hsa-miR-223	CLIP-seq
MIRT818043	hsa-miR-25	CLIP-seq
MIRT818044	hsa-miR-27a	CLIP-seq
MIRT818045	hsa-miR-27b	CLIP-seq
MIRT818046	hsa-miR-32	CLIP-seq
MIRT818047	hsa-miR-3545-5p	CLIP-seq
MIRT818048	hsa-miR-3613-3p	CLIP-seq
MIRT818049	hsa-miR-3614-5p	CLIP-seq
MIRT818050	hsa-miR-3617	CLIP-seq
MIRT818051	hsa-miR-363	CLIP-seq
MIRT818052	hsa-miR-3653	CLIP-seq
MIRT818053	hsa-miR-3658	CLIP-seq
MIRT818054	hsa-miR-367	CLIP-seq
MIRT818055	hsa-miR-3672	CLIP-seq
MIRT818056	hsa-miR-371-5p	CLIP-seq
MIRT818057	hsa-miR-371b-5p	CLIP-seq
MIRT818058	hsa-miR-3907	CLIP-seq
MIRT818059	hsa-miR-3913-3p	CLIP-seq
MIRT818060	hsa-miR-4299	CLIP-seq
MIRT818061	hsa-miR-4302	CLIP-seq
MIRT818062	hsa-miR-4418	CLIP-seq
MIRT818063	hsa-miR-4460	CLIP-seq
MIRT818064	hsa-miR-4663	CLIP-seq
MIRT818065	hsa-miR-4682	CLIP-seq
MIRT818066	hsa-miR-4697-3p	CLIP-seq
MIRT818067	hsa-miR-4698	CLIP-seq
MIRT818068	hsa-miR-4782-5p	CLIP-seq
MIRT818069	hsa-miR-4797-5p	CLIP-seq
MIRT818070	hsa-miR-494	CLIP-seq
MIRT818071	hsa-miR-508-5p	CLIP-seq
MIRT818072	hsa-miR-509-3-5p	CLIP-seq
MIRT818073	hsa-miR-509-5p	CLIP-seq
MIRT818074	hsa-miR-513a-5p	CLIP-seq
MIRT818075	hsa-miR-516b	CLIP-seq
MIRT818076	hsa-miR-522	CLIP-seq
MIRT818077	hsa-miR-542-3p	CLIP-seq
MIRT818078	hsa-miR-592	CLIP-seq
MIRT818079	hsa-miR-597	CLIP-seq
MIRT818080	hsa-miR-607	CLIP-seq
MIRT818081	hsa-miR-628-3p	CLIP-seq
MIRT818082	hsa-miR-641	CLIP-seq
MIRT818083	hsa-miR-759	CLIP-seq
MIRT818084	hsa-miR-766	CLIP-seq
MIRT818085	hsa-miR-767-5p	CLIP-seq
MIRT818086	hsa-miR-802	CLIP-seq
MIRT818087	hsa-miR-873	CLIP-seq
MIRT818088	hsa-miR-875-3p	CLIP-seq
MIRT818089	hsa-miR-92a	CLIP-seq
MIRT818090	hsa-miR-92b	CLIP-seq
MIRT1941793	hsa-miR-124	CLIP-seq
MIRT1941794	hsa-miR-1266	CLIP-seq
MIRT1941795	hsa-miR-1827	CLIP-seq
MIRT1941796	hsa-miR-214	CLIP-seq
MIRT1941797	hsa-miR-2467-3p	CLIP-seq
MIRT1941798	hsa-miR-3122	CLIP-seq
MIRT1941799	hsa-miR-3619-5p	CLIP-seq
MIRT1941800	hsa-miR-3689a-3p	CLIP-seq
MIRT1941801	hsa-miR-3689c	CLIP-seq
MIRT1941802	hsa-miR-3714	CLIP-seq
MIRT1941803	hsa-miR-3910	CLIP-seq
MIRT1941804	hsa-miR-3913-5p	CLIP-seq
MIRT1941805	hsa-miR-3975	CLIP-seq
MIRT1941806	hsa-miR-4257	CLIP-seq
MIRT1941807	hsa-miR-4278	CLIP-seq
MIRT1941808	hsa-miR-4291	CLIP-seq
MIRT1941809	hsa-miR-4518	CLIP-seq
MIRT1941810	hsa-miR-4649-3p	CLIP-seq
MIRT1941811	hsa-miR-4690-5p	CLIP-seq
MIRT1941812	hsa-miR-4716-3p	CLIP-seq
MIRT1941813	hsa-miR-4722-5p	CLIP-seq
MIRT1941814	hsa-miR-4723-5p	CLIP-seq
MIRT1941815	hsa-miR-4728-5p	CLIP-seq
MIRT1941816	hsa-miR-4768-3p	CLIP-seq
MIRT1941817	hsa-miR-506	CLIP-seq
MIRT1941818	hsa-miR-510	CLIP-seq
MIRT1941819	hsa-miR-512-5p	CLIP-seq
MIRT1941820	hsa-miR-606	CLIP-seq
MIRT1941821	hsa-miR-761	CLIP-seq
MIRT1941822	hsa-miR-922	CLIP-seq
MIRT1941823	hsa-miR-940	CLIP-seq
MIRT1941793	hsa-miR-124	CLIP-seq
MIRT1941796	hsa-miR-214	CLIP-seq
MIRT1941798	hsa-miR-3122	CLIP-seq
MIRT2444714	hsa-miR-3165	CLIP-seq
MIRT2444715	hsa-miR-338-3p	CLIP-seq
MIRT1941799	hsa-miR-3619-5p	CLIP-seq
MIRT2444716	hsa-miR-3656	CLIP-seq
MIRT2444717	hsa-miR-3665	CLIP-seq
MIRT818055	hsa-miR-3672	CLIP-seq
MIRT1941800	hsa-miR-3689a-3p	CLIP-seq
MIRT1941801	hsa-miR-3689c	CLIP-seq
MIRT1941802	hsa-miR-3714	CLIP-seq
MIRT1941803	hsa-miR-3910	CLIP-seq
MIRT1941804	hsa-miR-3913-5p	CLIP-seq
MIRT1941805	hsa-miR-3975	CLIP-seq
MIRT1941808	hsa-miR-4291	CLIP-seq
MIRT2444718	hsa-miR-4330	CLIP-seq
MIRT2444719	hsa-miR-4530	CLIP-seq
MIRT1941811	hsa-miR-4690-5p	CLIP-seq
MIRT1941815	hsa-miR-4728-5p	CLIP-seq
MIRT2444720	hsa-miR-4733-5p	CLIP-seq
MIRT2444721	hsa-miR-4736	CLIP-seq
MIRT1941817	hsa-miR-506	CLIP-seq
MIRT1941818	hsa-miR-510	CLIP-seq
MIRT1941819	hsa-miR-512-5p	CLIP-seq
MIRT2444722	hsa-miR-566	CLIP-seq
MIRT1941820	hsa-miR-606	CLIP-seq
MIRT1941821	hsa-miR-761	CLIP-seq
MIRT1941822	hsa-miR-922	CLIP-seq
MIRT1941823	hsa-miR-940	CLIP-seq
MIRT1941793	hsa-miR-124	CLIP-seq
MIRT2484108	hsa-miR-1285	CLIP-seq
MIRT1941798	hsa-miR-3122	CLIP-seq
MIRT2484109	hsa-miR-3163	CLIP-seq
MIRT2444714	hsa-miR-3165	CLIP-seq
MIRT2484110	hsa-miR-3187-5p	CLIP-seq
MIRT2444715	hsa-miR-338-3p	CLIP-seq
MIRT818049	hsa-miR-3614-5p	CLIP-seq
MIRT2444716	hsa-miR-3656	CLIP-seq
MIRT2444717	hsa-miR-3665	CLIP-seq
MIRT818055	hsa-miR-3672	CLIP-seq
MIRT1941800	hsa-miR-3689a-3p	CLIP-seq
MIRT1941801	hsa-miR-3689c	CLIP-seq
MIRT1941802	hsa-miR-3714	CLIP-seq
MIRT1941803	hsa-miR-3910	CLIP-seq
MIRT1941804	hsa-miR-3913-5p	CLIP-seq
MIRT2484111	hsa-miR-3945	CLIP-seq
MIRT1941805	hsa-miR-3975	CLIP-seq
MIRT2484112	hsa-miR-4253	CLIP-seq
MIRT2444719	hsa-miR-4530	CLIP-seq
MIRT2484113	hsa-miR-4684-5p	CLIP-seq
MIRT1941815	hsa-miR-4728-5p	CLIP-seq
MIRT2444721	hsa-miR-4736	CLIP-seq
MIRT2484114	hsa-miR-4781-3p	CLIP-seq
MIRT1941817	hsa-miR-506	CLIP-seq
MIRT2484115	hsa-miR-548c-3p	CLIP-seq
MIRT2484116	hsa-miR-612	CLIP-seq
MIRT818087	hsa-miR-873	CLIP-seq
MIRT1941823	hsa-miR-940	CLIP-seq
MIRT1941793	hsa-miR-124	CLIP-seq
MIRT1941798	hsa-miR-3122	CLIP-seq
MIRT2484109	hsa-miR-3163	CLIP-seq
MIRT2444714	hsa-miR-3165	CLIP-seq
MIRT2444715	hsa-miR-338-3p	CLIP-seq
MIRT818049	hsa-miR-3614-5p	CLIP-seq
MIRT2444716	hsa-miR-3656	CLIP-seq
MIRT2444717	hsa-miR-3665	CLIP-seq
MIRT1941800	hsa-miR-3689a-3p	CLIP-seq
MIRT1941801	hsa-miR-3689c	CLIP-seq
MIRT1941802	hsa-miR-3714	CLIP-seq
MIRT1941803	hsa-miR-3910	CLIP-seq
MIRT1941804	hsa-miR-3913-5p	CLIP-seq
MIRT1941805	hsa-miR-3975	CLIP-seq
MIRT2444719	hsa-miR-4530	CLIP-seq
MIRT2484113	hsa-miR-4684-5p	CLIP-seq
MIRT1941815	hsa-miR-4728-5p	CLIP-seq
MIRT2444721	hsa-miR-4736	CLIP-seq
MIRT1941817	hsa-miR-506	CLIP-seq
MIRT2484115	hsa-miR-548c-3p	CLIP-seq
MIRT818087	hsa-miR-873	CLIP-seq
MIRT1941823	hsa-miR-940	CLIP-seq

Gene ontology (GO)

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	IEA
GO:0003863	Function	Branched-chain 2-oxo acid dehydrogenase activity	IMP	2022752
GO:0005515	Function	Protein binding	IPI	10745006, 12902323, 15166214, 15576032, 28514442, 33961781
GO:0005654	Component	Nucleoplasm	IDA
GO:0005730	Component	Nucleolus	IDA
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IDA
GO:0005739	Component	Mitochondrion	IEA
GO:0005739	Component	Mitochondrion	IMP	2022752
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:0006629	Process	Lipid metabolic process	IEA
GO:0007584	Process	Response to nutrient	IBA
GO:0009083	Process	Branched-chain amino acid catabolic process	IBA
GO:0009083	Process	Branched-chain amino acid catabolic process	IDA	3593587
GO:0009083	Process	Branched-chain amino acid catabolic process	IMP	2022752
GO:0016491	Function	Oxidoreductase activity	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	9582350, 10745006
GO:0160157	Component	Branched-chain alpha-ketoacid dehydrogenase complex	IMP	2022752
GO:0160157	Component	Branched-chain alpha-ketoacid dehydrogenase complex	IPI	3593587

Other IDs

• MIM: 248611
• HGNC: 987
• e!Ensembl: ENSG00000083123

Protein

• UniProt ID: P21953
• Protein name: 2-oxoisovalerate dehydrogenase subunit beta, mitochondrial (EC 1.2.4.4) (Branched-chain alpha-keto acid dehydrogenase E1 component beta chain) (BCKDE1B) (BCKDH E1-beta)
• Protein function: Together with BCKDHA 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
  PF02779	Transket_pyr	69 → 247	Transketolase, pyrimidine binding domain	Domain
  PF02780	Transketolase_C	261 → 382	Transketolase, C-terminal domain	Domain

• Sequence:

  MAVVAAAAGWLLRLRAAGAEGHWRRLPGAGLARGFLHPAATVEDAAQRRQVAHFTFQPDP
  EPREYGQTQKMNLFQSVTSALDNSLAKDPTAVIFGEDVAFGGVFRCTVGLRDKYGKDRVF
  NTPLCEQGIVGFGIGIAVTGATAIAEIQFADYIFPAFDQIVNEAAKYRYRSGDLFNCGSL
  TIRSPWGCVGHGALYHSQSPEAFFAHCPGIKVVIPRSPFQAKGLLLSCIEDKNPCIFFEP
  KILYRAAAEEVPIEPYNIPLSQAEVIQEGSDVTLVAWGTQVHVIREVASMAKEKLGVSCE
  VIDLRTIIPWDVDTICKSVIKTGRLLISHEAPLTGGFASEISSTVQEECFLNLEAPISRV
  CGYDTPFPHIFEPFYIPDKWKCYDALRKMINY

• Sequence length: 392

Pathways

KEGG:

Valine, leucine and isoleucine degradation
Propanoate metabolism
Lipoic acid metabolism
Metabolic pathways
2-Oxocarboxylic acid metabolism

Reactome:

Glyoxylate metabolism and glycine degradation
Branched-chain amino acid catabolism

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
Abnormality of metabolism/homeostasis	Likely pathogenic; Pathogenic	rs751953459	RCV001814191	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
BCKDHB-related disorder	Likely pathogenic; Pathogenic	rs1350590893, rs751953459, rs751599203, rs386834233	RCV003414328 RCV004730986 RCV003403562 RCV004751250	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Maple syrup urine disease	Likely pathogenic; Pathogenic	rs398124560, rs398124561, rs398124562, rs398124571, rs398124572, rs398124573, rs398124581, rs371518124, rs398124582, rs149766077, rs398124586, rs398124587, rs398124589, rs398124592, rs398124593, rs398124594, rs398124596, rs398124598, rs398124601, rs398124603, rs1328608014, rs2127726128, rs2127727907, rs1562102740, rs2127727924, rs1248040495, rs2127698713, rs2127698743, rs2127698980, rs2127775550, rs2127726212, rs1002472211, rs2127965290, rs774472182, rs2128020522, rs1777825845, rs2481883298, rs2481920373, rs2481899561, rs2533311246, rs2482270092, rs2533314262, rs2481558517, rs2481919576, rs2481919877, rs1384040769, rs1009457715, rs796051940, rs1562102601, rs2481921012, rs869312127, rs2481900188, rs2533310413, rs2481557966, rs1277939715, rs1554180622, rs869312128, rs869312130, rs148905512, rs869312131, rs869312129, rs1085307058, rs2481900030, rs1210649507, rs79761867, rs121965004, rs1562242135, rs769886312, rs2481901220, rs2481559149, rs1235461740, rs2483370839, rs1431407722, rs1295567170, rs1174121102, rs2533313675, rs2481575908, rs772386574, rs1055686023, rs2481576688, rs2481921493, rs1554181203, rs2481898824, rs1402634815, rs2482927788, rs989873156, rs1159943999, rs2482268455, rs2533311576, rs2481898172, rs779370354, rs2482267558, rs377722320, rs2482269247, rs2481559722, rs2481558879, rs2533311813, rs962489830, rs1452496837, rs1057516795, rs776631396, rs1057516799, rs1057516572, rs760538465, rs1060499715, rs1554184224, rs1400121541, rs749033513, rs751953459, rs867612284, rs1167005638, rs1554194690, rs1554205499, rs190867671, rs1005542482, rs1554181192, rs774916970, rs1224101411, rs1304667430, rs1380402024, rs1554190322, rs1582146275, rs940391887, rs1554184237, rs776270090, rs751599203, rs1410520713, rs774306610, rs1202365275, rs1582146989, rs386834234, rs386834233, rs1582275277, rs763645251, rs1772747408, rs1774478421, rs762419044, rs1770503105, rs371117671, rs1772902148, rs1769085821, rs1772735425, rs1774361781, rs756647770, rs1772645594, rs1772736212, rs1389512878, rs537988425, rs933828560, rs1774369632	RCV000674620 RCV001052144 RCV000173927 RCV001162146 RCV000173587 RCV000177426 RCV000179043 RCV000179047 RCV001202851 RCV001857396 RCV002514449 RCV000179041 RCV000811119 RCV001047777 RCV000180018 RCV000169389 RCV000180019 RCV000169304 RCV001390112 RCV000169351 RCV001380845 RCV001384968 RCV001390691 RCV001385404 RCV001775053 RCV001936965 RCV002037642 RCV001941750 RCV001951978 RCV002035507 RCV001943366 RCV001931489 RCV001972711 RCV002033600 RCV001918259 RCV002249294 RCV003094176 RCV002306479 RCV002309783 RCV002307963 RCV002307974 RCV002308084 RCV002309445 RCV002310502 RCV000169513 RCV003060065 RCV003037181 RCV003060066 RCV003061178 RCV002008695 RCV002654528 RCV002824157 RCV002834329 RCV002837888 RCV002846716 RCV002829324 RCV002996833 RCV000209157 RCV000209790 RCV000209460 RCV000209826 RCV000209747 RCV000209523 RCV000209501 RCV000490444 RCV003149167 RCV003226614 RCV000056008 RCV003460460 RCV003460461 RCV003465166 RCV003465167 RCV003465168 RCV003465169 RCV003465173 RCV003465174 RCV003465175 RCV003465176 RCV003465177 RCV003465178 RCV003465179 RCV003465180 RCV003460221 RCV003474336 RCV003474337 RCV003523262 RCV003522236 RCV003524975 RCV003525050 RCV003525293 RCV003523842 RCV003524770 RCV003636366 RCV003636367 RCV003636375 RCV003637084 RCV003637221 RCV003637787 RCV003637856 RCV003635569 RCV003842914 RCV003855619 RCV003865727 RCV000410202 RCV000410485 RCV000409047 RCV000411844 RCV000411423 RCV000449516 RCV000671012 RCV000548346 RCV000553115 RCV001796129 RCV000631886 RCV000631894 RCV000631887 RCV000673322 RCV000665340 RCV000668675 RCV000666521 RCV000671817 RCV000673646 RCV000666534 RCV000673516 RCV000672025 RCV000664711 RCV000672647 RCV000674485 RCV000669039 RCV000672543 RCV000672452 RCV000669008 RCV000667163 RCV000671826 RCV000688957 RCV000704171 RCV000761470 RCV000809821 RCV000822086 RCV000056007 RCV000056009 RCV000987746 RCV000987747 RCV001039804 RCV001052891 RCV001067446 RCV001050317 RCV001174774 RCV001218214 RCV001220702 RCV001224152 RCV001209665 RCV001203795 RCV001212982 RCV001232495 RCV001263564 RCV001263565 RCV001263566 RCV001263567 RCV001263852 RCV001263853	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Maple syrup urine disease type 1A	Likely pathogenic; Pathogenic	rs398124560, rs398124561, rs398124562, rs398124572, rs398124573, rs398124581, rs371518124, rs398124587, rs398124589, rs398124593, rs398124594, rs398124596, rs398124598, rs398124601, rs398124603, rs398124604, rs1002472211, rs774472182, rs2481919877, rs1384040769, rs1009457715, rs796051940, rs1562102601, rs1277939715, rs869312129, rs79761867, rs1235461740, rs2482241490, rs2482242040, rs1431407722, rs1295567170, rs772386574, rs2481898824, rs377722320, rs1334148721, rs2482927479, rs2533310807, rs1772747003, rs1057516781, rs1057516795, rs1057516731, rs1057517414, rs776631396, rs1057516799, rs1057516572, rs760538465, rs1057517124, rs994415333, rs1554184224, rs1400121541, rs749033513, rs751953459, rs867612284, rs1554194690, rs1554205499, rs190867671, rs1005542482, rs1554181192, rs774916970, rs1554181203, rs962489830, rs1224101411, rs1304667430, rs1380402024, rs1554190322, rs940391887, rs1554184237, rs1554189447, rs1554205506, rs776270090, rs751599203, rs1410520713, rs774306610, rs386834234, rs386834233, rs1772747408, rs371117671, rs756647770	RCV004566957 RCV004566959 RCV004566960 RCV004566961 RCV004566962 RCV004566964 RCV004566965 RCV004566966 RCV004566967 RCV004566968 RCV005430491 RCV004566969 RCV005430122 RCV004566970 RCV004566972 RCV004566973 RCV005430492 RCV004571739 RCV004571587 RCV004567371 RCV004572722 RCV004572723 RCV004572740 RCV004571908 RCV004571206 RCV004572537 RCV005430512 RCV004566721 RCV004574042 RCV004574043 RCV004574044 RCV004574045 RCV004574046 RCV004574047 RCV004574056 RCV005637003 RCV004575404 RCV004575405 RCV004575406 RCV004575407 RCV004567879 RCV005430322 RCV005430318 RCV005430345 RCV004567884 RCV005430323 RCV005430303 RCV005430297 RCV005430294 RCV005430332 RCV005430535 RCV005430544 RCV004568730 RCV005430546 RCV004568308 RCV005253012 RCV005630326 RCV005430413 RCV005430763 RCV004568491 RCV005430604 RCV005430439 RCV005430711 RCV005430773 RCV005430751 RCV005430441 RCV005430769 RCV004568547 RCV005430393 RCV005430739 RCV005430615 RCV005430734 RCV005430729 RCV005430748 RCV005430613 RCV005430806 RCV005430557 RCV004568543 RCV004568598 RCV005253084 RCV005430116 RCV004566908 RCV004570123 RCV005630267 RCV004570408 RCV004570581	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Maple syrup urine disease type 1B	Likely pathogenic; Pathogenic	rs398124560, rs398124561, rs398124562, rs398124571, rs398124572, rs398124581, rs371518124, rs398124582, rs149766077, rs398124586, rs398124587, rs398124589, rs398124593, rs398124594, rs398124598, rs398124601, rs398124603, rs2127698713, rs774472182, rs2128020522, rs1777825845, rs2481919877, rs796051940, rs797045411, rs869312128, rs869312129, rs886043103, rs79761867, rs121965004, rs121965005, rs1562242135, rs769886312, rs2481559722, rs2533311813, rs2482243041, rs776631396, rs1057516799, rs1400121541, rs749033513, rs751953459, rs1167005638, rs1005542482, rs962489830, rs1224101411, rs751599203, rs774306610, rs386834233, rs762419044, rs371117671, rs1210649507, rs1772902148, rs1769085821	RCV000587204 RCV004566958 RCV001831887 RCV005031573 RCV005042197 RCV005042198 RCV005042199 RCV001831890 RCV001831891 RCV005031575 RCV000780959 RCV005031576 RCV000586350 RCV001826771 RCV001193356 RCV000780961 RCV000779833 RCV005042589 RCV005038483 RCV005042756 RCV005042760 RCV000589099 RCV005608853 RCV005042647 RCV000193073 RCV005632319 RCV001833174 RCV005606660 RCV000589206 RCV003534309 RCV003534310 RCV003534311 RCV005047620 RCV005036933 RCV005038564 RCV004586426 RCV001828375 RCV000780960 RCV001834748 RCV001829563 RCV000589594 RCV004568374 RCV005044922 RCV003987655 RCV005046861 RCV005046905 RCV001829852 RCV005046893 RCV001825391 RCV000587416 RCV001827439 RCV001836126 RCV001193355 RCV005036482 RCV005606779 RCV005036464	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Ovarian serous cystadenocarcinoma	Likely pathogenic	rs1554181203	RCV005927732	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AMBLYOPIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CLASSIC MAPLE SYRUP URINE DISEASE	—	GWAS catalog, Orphanet GWAS catalog, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CLASSICAL MAPLE SYRUP URINE DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTERMEDIATE MAPLE SYRUP URINE DISEASE	—	Disgenet, GWAS catalog, Orphanet Disgenet, GWAS catalog, Orphanet Disgenet, GWAS catalog, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTERMITTENT MAPLE SYRUP URINE DISEASE	—	Disgenet, GWAS catalog, Orphanet Disgenet, GWAS catalog, Orphanet Disgenet, GWAS catalog, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAPLE SYRUP URINE DISEASE, TYPE 1B	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAPLE SYRUP URINE DISEASE, TYPE IA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAPLE SYRUP URINE DISEASE, TYPE IB	—	HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-ALCOHOLIC FATTY LIVER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
THIAMIN-RESPONSIVE MAPLE SYRUP URINE DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
THIAMINE-RESPONSIVE MAPLE SYRUP URINE DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Anaplastic thyroid carcinoma	Anaplastic thyroid cancer	BEFREE	12050209		★☆☆☆☆ Found in Text Mining only
Brain Injuries	Brain injuries	Pubtator	28830848	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	23750246	Associate	★☆☆☆☆ Found in Text Mining only
Celiac Disease	Celiac disease	BEFREE	2525272		★☆☆☆☆ Found in Text Mining only
Classic maple syrup urine disease	Maple Syrup Urine Disease	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Classic Maple Syrup Urine Disease	Maple Syrup Urine Disease	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Fatigue Syndrome Chronic	Fatigue syndrome	Pubtator	33669532	Associate	★☆☆☆☆ Found in Text Mining only
Hallucinations	Hallucinations	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypoglycemia	Hypoglycemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	17278190	Associate	★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Intermediate maple syrup urine disease	Maple Syrup Urine Disease	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intermediate Maple Syrup Urine Disease	Maple Syrup Urine Disease	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intermittent maple syrup urine disease	Maple Syrup Urine Disease	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intermittent Maple Syrup Urine Disease	Maple Syrup Urine Disease	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ketosis	Ketosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	11401492		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	19380809		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	16179928		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	12189522, 15338010, 22321574		★☆☆☆☆ Found in Text Mining only
Maple Syrup Urine Disease	Maple syrup urine disease	Pubtator	10745006, 11112664, 11448970, 11509994, 14742428, 1885764, 2022752, 2365818, 24268812, 24770567, 28830848, 2914958, 29366676, 30957186, 31830945, 32515140, 33131499, 33955723, 34556729, 35799415, 3597778, 37248682, 7883996, 8240269, 9375800	Associate	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Maple Syrup Urine Disease	Maple Syrup Urine Disease	CLINVAR_DG	11112664, 11448970, 11509994, 14517957, 14567968, 14742428, 15884622, 16468966, 16786533, 17922217, 18378174, 19282776, 19480318, 20307994, 21484869, 22350544, 22593002, 22727569, 24772966, 24995870, 25333063, 25381949, 25525159, 26232051, 26257134, 26453840, 26786177, 26830710, 27507644, 27682710, 28197878, 28417071, 28830848, 4517957, 8312380, 8430702, 9375800		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Maple Syrup Urine Disease	Maple Syrup Urine Disease	GENOMICS_ENGLAND_DG	11180212, 31112740		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Maple Syrup Urine Disease	Maple Syrup Urine Disease	LHGDN	11509994, 17922217, 18378174		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Maple Syrup Urine Disease	Maple Syrup Urine Disease	UNIPROT_DG	11509994, 22326532, 8161368		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Maple Syrup Urine Disease	Maple Syrup Urine Disease	BEFREE	16786533, 17922217, 1860867, 22326532, 22727569, 24770567, 25381949, 26239723, 26257134, 26453840, 26901124, 28197878, 28830848, 29306928, 29366676, 31830945		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Maple Syrup Urine Disease	Maple Syrup Urine Disease	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Maple syrup urine disease type 1B	Maple syrup urine disease	Pubtator	11448970	Associate	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Maple syrup urine disease type 2	Maple syrup urine disease	Pubtator	31610500	Associate	★☆☆☆☆ Found in Text Mining only
Maple Syrup Urine Disease, Thiamine Responsive	Maple Syrup Urine Disease	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Maple syrup urine disease, type 1B	Maple Syrup Urine Disease	GENOMICS_ENGLAND_DG	27604308		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Maple syrup urine disease, type 1B	Maple Syrup Urine Disease	BEFREE	31610500		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neoplasms	Neoplasms	BEFREE	12353234, 14734481, 9467960		★☆☆☆☆ Found in Text Mining only
Ovarian Failure, Premature	Ovarian Failure	BEFREE	17524396		★☆☆☆☆ Found in Text Mining only
Ovarian Failure, Premature	Ovarian Failure	LHGDN	17524396		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	25820823	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	16179928		★☆☆☆☆ Found in Text Mining only
Pancreatitis	Pancreatitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pediatric Obesity	Childhood obesity	BEFREE	31622249		★☆☆☆☆ Found in Text Mining only
Premature Menopause	Premature Menopause	BEFREE	17524396		★☆☆☆☆ Found in Text Mining only