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	3032
Gene name	Hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta
Gene symbol	HADHB
Synonyms (NCBI Gene)	ECHBMSTP029MTPBMTPDMTPD2TP-BETA
Chromosome	2
Chromosome location	2p23.3
Summary	This gene encodes the beta subunit of the mitochondrial trifunctional protein, which catalyzes the last three steps of mitochondrial beta-oxidation of long chain fatty acids. The mitochondrial membrane-bound heterocomplex is composed of four alpha and fou

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SNP ID	Visualize variation	Clinical significance	Consequence
rs113112630	G>A	Likely-pathogenic	Splice donor variant
rs121913131	A>G	Pathogenic	Coding sequence variant, missense variant
rs121913132	G>A	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs121913133	G>A,T	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs121913134	G>A	Pathogenic	Coding sequence variant, missense variant
rs146538551	C>G,T	Likely-benign, pathogenic	Coding sequence variant, synonymous variant, stop gained
rs151302743	A>G	Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity	Intron variant, synonymous variant, coding sequence variant
rs200777054	G>C,T	Likely-pathogenic, uncertain-significance	Intron variant, splice acceptor variant
rs267606859	T>A,C,G	Pathogenic	Coding sequence variant, missense variant
rs375654005	G>A,T	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs745646607	->CGCT	Pathogenic	Coding sequence variant, frameshift variant
rs759136382	C>G,T	Pathogenic	Stop gained, missense variant, coding sequence variant
rs763333945	A>G	Pathogenic	5 prime UTR variant, missense variant, initiator codon variant
rs764623179	C>G,T	Pathogenic	Coding sequence variant, missense variant
rs776172237	G>A	Pathogenic	Splice donor variant, intron variant
rs780351691	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs796051974	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs886037844	->T	Pathogenic	Coding sequence variant, frameshift variant
rs891954464	G>A,C	Likely-pathogenic	Coding sequence variant, missense variant
rs1131691427	T>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1376342675	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1553323072	->G	Pathogenic	Frameshift variant, coding sequence variant
rs1558357879	C>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1574663316	A>C	Likely-pathogenic	Splice acceptor variant

337

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miRTarBase ID	miRNA	Experiments	Reference
MIRT016498	hsa-miR-193b-3p	Proteomics	21512034
MIRT002711	hsa-miR-124-3p	Proteomics	18668037
MIRT002711	hsa-miR-124-3p	Microarray	15685193
MIRT048639	hsa-miR-99a-5p	CLASH	23622248
MIRT036297	hsa-miR-1229-3p	CLASH	23622248
MIRT530149	hsa-miR-4753-5p	PAR-CLIP	22012620
MIRT530148	hsa-miR-519a-3p	PAR-CLIP	22012620
MIRT530147	hsa-miR-519b-3p	PAR-CLIP	22012620
MIRT530146	hsa-miR-519c-3p	PAR-CLIP	22012620
MIRT530145	hsa-miR-302a-3p	PAR-CLIP	22012620
MIRT530144	hsa-miR-302b-3p	PAR-CLIP	22012620
MIRT530143	hsa-miR-302c-3p	PAR-CLIP	22012620
MIRT530142	hsa-miR-302d-3p	PAR-CLIP	22012620
MIRT530141	hsa-miR-302e	PAR-CLIP	22012620
MIRT530140	hsa-miR-372-3p	PAR-CLIP	22012620
MIRT530139	hsa-miR-373-3p	PAR-CLIP	22012620
MIRT530138	hsa-miR-520a-3p	PAR-CLIP	22012620
MIRT530137	hsa-miR-520b	PAR-CLIP	22012620
MIRT530136	hsa-miR-520c-3p	PAR-CLIP	22012620
MIRT530135	hsa-miR-520d-3p	PAR-CLIP	22012620
MIRT530134	hsa-miR-520e	PAR-CLIP	22012620
MIRT530133	hsa-miR-3154	PAR-CLIP	22012620
MIRT530132	hsa-miR-4717-5p	PAR-CLIP	22012620
MIRT530131	hsa-miR-130a-3p	PAR-CLIP	22012620
MIRT530130	hsa-miR-130b-3p	PAR-CLIP	22012620
MIRT530129	hsa-miR-301a-3p	PAR-CLIP	22012620
MIRT530128	hsa-miR-301b-3p	PAR-CLIP	22012620
MIRT530127	hsa-miR-3666	PAR-CLIP	22012620
MIRT530126	hsa-miR-4295	PAR-CLIP	22012620
MIRT530125	hsa-miR-454-3p	PAR-CLIP	22012620
MIRT530124	hsa-miR-4493	PAR-CLIP	22012620
MIRT530123	hsa-miR-4708-3p	PAR-CLIP	22012620
MIRT530122	hsa-miR-4720-3p	PAR-CLIP	22012620
MIRT530121	hsa-miR-19a-3p	PAR-CLIP	22012620
MIRT530120	hsa-miR-19b-3p	PAR-CLIP	22012620
MIRT530119	hsa-miR-633	PAR-CLIP	22012620
MIRT206216	hsa-miR-33a-5p	Luciferase reporter assayqRT-PCRWestern blot	27199118
MIRT530149	hsa-miR-4753-5p	PAR-CLIP	22012620
MIRT530148	hsa-miR-519a-3p	PAR-CLIP	22012620
MIRT530147	hsa-miR-519b-3p	PAR-CLIP	22012620
MIRT530146	hsa-miR-519c-3p	PAR-CLIP	22012620
MIRT530145	hsa-miR-302a-3p	PAR-CLIP	22012620
MIRT530144	hsa-miR-302b-3p	PAR-CLIP	22012620
MIRT530143	hsa-miR-302c-3p	PAR-CLIP	22012620
MIRT530142	hsa-miR-302d-3p	PAR-CLIP	22012620
MIRT530141	hsa-miR-302e	PAR-CLIP	22012620
MIRT530140	hsa-miR-372-3p	PAR-CLIP	22012620
MIRT530139	hsa-miR-373-3p	PAR-CLIP	22012620
MIRT530138	hsa-miR-520a-3p	PAR-CLIP	22012620
MIRT530137	hsa-miR-520b	PAR-CLIP	22012620
MIRT530136	hsa-miR-520c-3p	PAR-CLIP	22012620
MIRT530135	hsa-miR-520d-3p	PAR-CLIP	22012620
MIRT530134	hsa-miR-520e	PAR-CLIP	22012620
MIRT530133	hsa-miR-3154	PAR-CLIP	22012620
MIRT530132	hsa-miR-4717-5p	PAR-CLIP	22012620
MIRT530131	hsa-miR-130a-3p	PAR-CLIP	22012620
MIRT530130	hsa-miR-130b-3p	PAR-CLIP	22012620
MIRT530129	hsa-miR-301a-3p	PAR-CLIP	22012620
MIRT530128	hsa-miR-301b-3p	PAR-CLIP	22012620
MIRT530127	hsa-miR-3666	PAR-CLIP	22012620
MIRT530126	hsa-miR-4295	PAR-CLIP	22012620
MIRT530125	hsa-miR-454-3p	PAR-CLIP	22012620
MIRT530124	hsa-miR-4493	PAR-CLIP	22012620
MIRT530123	hsa-miR-4708-3p	PAR-CLIP	22012620
MIRT530122	hsa-miR-4720-3p	PAR-CLIP	22012620
MIRT530121	hsa-miR-19a-3p	PAR-CLIP	22012620
MIRT530120	hsa-miR-19b-3p	PAR-CLIP	22012620
MIRT530119	hsa-miR-633	PAR-CLIP	22012620
MIRT1040479	hsa-miR-1197	CLIP-seq
MIRT1040480	hsa-miR-1256	CLIP-seq
MIRT1040481	hsa-miR-125a-5p	CLIP-seq
MIRT1040482	hsa-miR-125b	CLIP-seq
MIRT1040483	hsa-miR-1276	CLIP-seq
MIRT1040484	hsa-miR-1283	CLIP-seq
MIRT1040485	hsa-miR-130a	CLIP-seq
MIRT1040486	hsa-miR-130b	CLIP-seq
MIRT1040487	hsa-miR-141	CLIP-seq
MIRT1040488	hsa-miR-192	CLIP-seq
MIRT1040489	hsa-miR-19a	CLIP-seq
MIRT1040490	hsa-miR-19b	CLIP-seq
MIRT1040491	hsa-miR-200a	CLIP-seq
MIRT1040492	hsa-miR-203	CLIP-seq
MIRT1040493	hsa-miR-215	CLIP-seq
MIRT1040494	hsa-miR-216a	CLIP-seq
MIRT1040495	hsa-miR-2278	CLIP-seq
MIRT1040496	hsa-miR-28-5p	CLIP-seq
MIRT1040497	hsa-miR-301a	CLIP-seq
MIRT1040498	hsa-miR-301b	CLIP-seq
MIRT1040499	hsa-miR-302a	CLIP-seq
MIRT1040500	hsa-miR-302b	CLIP-seq
MIRT1040501	hsa-miR-302c	CLIP-seq
MIRT1040502	hsa-miR-302d	CLIP-seq
MIRT1040503	hsa-miR-31	CLIP-seq
MIRT1040504	hsa-miR-3117-3p	CLIP-seq
MIRT1040505	hsa-miR-3123	CLIP-seq
MIRT1040506	hsa-miR-3124-3p	CLIP-seq
MIRT1040507	hsa-miR-3128	CLIP-seq
MIRT1040508	hsa-miR-3135	CLIP-seq
MIRT1040509	hsa-miR-3139	CLIP-seq
MIRT1040510	hsa-miR-3149	CLIP-seq
MIRT1040511	hsa-miR-33a	CLIP-seq
MIRT1040512	hsa-miR-33b	CLIP-seq
MIRT1040513	hsa-miR-3607-5p	CLIP-seq
MIRT1040514	hsa-miR-3622a-5p	CLIP-seq
MIRT1040515	hsa-miR-3685	CLIP-seq
MIRT1040516	hsa-miR-372	CLIP-seq
MIRT1040517	hsa-miR-373	CLIP-seq
MIRT1040518	hsa-miR-384	CLIP-seq
MIRT1040519	hsa-miR-3914	CLIP-seq
MIRT1040520	hsa-miR-3920	CLIP-seq
MIRT1040521	hsa-miR-3925-5p	CLIP-seq
MIRT1040522	hsa-miR-3976	CLIP-seq
MIRT1040523	hsa-miR-4264	CLIP-seq
MIRT1040524	hsa-miR-4299	CLIP-seq
MIRT1040525	hsa-miR-4317	CLIP-seq
MIRT1040526	hsa-miR-4319	CLIP-seq
MIRT1040527	hsa-miR-4456	CLIP-seq
MIRT1040528	hsa-miR-450b-5p	CLIP-seq
MIRT1040529	hsa-miR-4511	CLIP-seq
MIRT1040530	hsa-miR-452	CLIP-seq
MIRT1040531	hsa-miR-454	CLIP-seq
MIRT1040532	hsa-miR-4633-3p	CLIP-seq
MIRT1040533	hsa-miR-4676-3p	CLIP-seq
MIRT1040534	hsa-miR-4729	CLIP-seq
MIRT1040535	hsa-miR-4732-3p	CLIP-seq
MIRT1040536	hsa-miR-4762-5p	CLIP-seq
MIRT1040537	hsa-miR-4766-5p	CLIP-seq
MIRT1040538	hsa-miR-4774-3p	CLIP-seq
MIRT1040539	hsa-miR-4797-3p	CLIP-seq
MIRT1040540	hsa-miR-518a-5p	CLIP-seq
MIRT1040541	hsa-miR-519a	CLIP-seq
MIRT1040542	hsa-miR-527	CLIP-seq
MIRT1040543	hsa-miR-548b-3p	CLIP-seq
MIRT1040544	hsa-miR-548g	CLIP-seq
MIRT1040545	hsa-miR-548q	CLIP-seq
MIRT1040546	hsa-miR-586	CLIP-seq
MIRT1040547	hsa-miR-605	CLIP-seq
MIRT1040548	hsa-miR-616	CLIP-seq
MIRT1040549	hsa-miR-648	CLIP-seq
MIRT1040550	hsa-miR-651	CLIP-seq
MIRT1040551	hsa-miR-670	CLIP-seq
MIRT1040552	hsa-miR-708	CLIP-seq
MIRT1040479	hsa-miR-1197	CLIP-seq
MIRT1040485	hsa-miR-130a	CLIP-seq
MIRT1040486	hsa-miR-130b	CLIP-seq
MIRT1040487	hsa-miR-141	CLIP-seq
MIRT1040488	hsa-miR-192	CLIP-seq
MIRT1040489	hsa-miR-19a	CLIP-seq
MIRT1040490	hsa-miR-19b	CLIP-seq
MIRT1040491	hsa-miR-200a	CLIP-seq
MIRT1040493	hsa-miR-215	CLIP-seq
MIRT1040494	hsa-miR-216a	CLIP-seq
MIRT1040496	hsa-miR-28-5p	CLIP-seq
MIRT1040497	hsa-miR-301a	CLIP-seq
MIRT1040498	hsa-miR-301b	CLIP-seq
MIRT1040499	hsa-miR-302a	CLIP-seq
MIRT1040500	hsa-miR-302b	CLIP-seq
MIRT1040501	hsa-miR-302c	CLIP-seq
MIRT1040502	hsa-miR-302d	CLIP-seq
MIRT1040503	hsa-miR-31	CLIP-seq
MIRT1040504	hsa-miR-3117-3p	CLIP-seq
MIRT1040505	hsa-miR-3123	CLIP-seq
MIRT1040507	hsa-miR-3128	CLIP-seq
MIRT1040509	hsa-miR-3139	CLIP-seq
MIRT1040511	hsa-miR-33a	CLIP-seq
MIRT1040512	hsa-miR-33b	CLIP-seq
MIRT1040515	hsa-miR-3685	CLIP-seq
MIRT1040516	hsa-miR-372	CLIP-seq
MIRT1040517	hsa-miR-373	CLIP-seq
MIRT1040518	hsa-miR-384	CLIP-seq
MIRT1040519	hsa-miR-3914	CLIP-seq
MIRT1040521	hsa-miR-3925-5p	CLIP-seq
MIRT1040522	hsa-miR-3976	CLIP-seq
MIRT1040523	hsa-miR-4264	CLIP-seq
MIRT1040528	hsa-miR-450b-5p	CLIP-seq
MIRT1040529	hsa-miR-4511	CLIP-seq
MIRT1040530	hsa-miR-452	CLIP-seq
MIRT1040531	hsa-miR-454	CLIP-seq
MIRT1040532	hsa-miR-4633-3p	CLIP-seq
MIRT1040533	hsa-miR-4676-3p	CLIP-seq
MIRT1040536	hsa-miR-4762-5p	CLIP-seq
MIRT1040539	hsa-miR-4797-3p	CLIP-seq
MIRT1040540	hsa-miR-518a-5p	CLIP-seq
MIRT1040541	hsa-miR-519a	CLIP-seq
MIRT2008490	hsa-miR-520d-5p	CLIP-seq
MIRT2008491	hsa-miR-524-5p	CLIP-seq
MIRT1040542	hsa-miR-527	CLIP-seq
MIRT1040543	hsa-miR-548b-3p	CLIP-seq
MIRT1040546	hsa-miR-586	CLIP-seq
MIRT1040550	hsa-miR-651	CLIP-seq
MIRT1040552	hsa-miR-708	CLIP-seq
MIRT1040479	hsa-miR-1197	CLIP-seq
MIRT1040480	hsa-miR-1256	CLIP-seq
MIRT1040481	hsa-miR-125a-5p	CLIP-seq
MIRT1040482	hsa-miR-125b	CLIP-seq
MIRT1040483	hsa-miR-1276	CLIP-seq
MIRT1040484	hsa-miR-1283	CLIP-seq
MIRT1040485	hsa-miR-130a	CLIP-seq
MIRT1040486	hsa-miR-130b	CLIP-seq
MIRT1040487	hsa-miR-141	CLIP-seq
MIRT1040489	hsa-miR-19a	CLIP-seq
MIRT1040490	hsa-miR-19b	CLIP-seq
MIRT1040491	hsa-miR-200a	CLIP-seq
MIRT1040492	hsa-miR-203	CLIP-seq
MIRT1040495	hsa-miR-2278	CLIP-seq
MIRT1040496	hsa-miR-28-5p	CLIP-seq
MIRT1040497	hsa-miR-301a	CLIP-seq
MIRT1040498	hsa-miR-301b	CLIP-seq
MIRT1040499	hsa-miR-302a	CLIP-seq
MIRT1040500	hsa-miR-302b	CLIP-seq
MIRT1040501	hsa-miR-302c	CLIP-seq
MIRT1040502	hsa-miR-302d	CLIP-seq
MIRT1040503	hsa-miR-31	CLIP-seq
MIRT1040504	hsa-miR-3117-3p	CLIP-seq
MIRT1040505	hsa-miR-3123	CLIP-seq
MIRT1040507	hsa-miR-3128	CLIP-seq
MIRT1040508	hsa-miR-3135	CLIP-seq
MIRT1040509	hsa-miR-3139	CLIP-seq
MIRT1040510	hsa-miR-3149	CLIP-seq
MIRT1040511	hsa-miR-33a	CLIP-seq
MIRT1040512	hsa-miR-33b	CLIP-seq
MIRT2240933	hsa-miR-3659	CLIP-seq
MIRT1040515	hsa-miR-3685	CLIP-seq
MIRT1040516	hsa-miR-372	CLIP-seq
MIRT1040517	hsa-miR-373	CLIP-seq
MIRT1040518	hsa-miR-384	CLIP-seq
MIRT1040519	hsa-miR-3914	CLIP-seq
MIRT1040520	hsa-miR-3920	CLIP-seq
MIRT1040521	hsa-miR-3925-5p	CLIP-seq
MIRT1040522	hsa-miR-3976	CLIP-seq
MIRT2240934	hsa-miR-4276	CLIP-seq
MIRT1040524	hsa-miR-4299	CLIP-seq
MIRT1040525	hsa-miR-4317	CLIP-seq
MIRT1040526	hsa-miR-4319	CLIP-seq
MIRT2240935	hsa-miR-4427	CLIP-seq
MIRT2240936	hsa-miR-4436b-5p	CLIP-seq
MIRT1040527	hsa-miR-4456	CLIP-seq
MIRT2240937	hsa-miR-4477a	CLIP-seq
MIRT1040529	hsa-miR-4511	CLIP-seq
MIRT1040530	hsa-miR-452	CLIP-seq
MIRT1040531	hsa-miR-454	CLIP-seq
MIRT1040532	hsa-miR-4633-3p	CLIP-seq
MIRT2240938	hsa-miR-4658	CLIP-seq
MIRT1040533	hsa-miR-4676-3p	CLIP-seq
MIRT2240939	hsa-miR-4680-3p	CLIP-seq
MIRT2240940	hsa-miR-4684-3p	CLIP-seq
MIRT2240941	hsa-miR-4694-5p	CLIP-seq
MIRT1040534	hsa-miR-4729	CLIP-seq
MIRT1040535	hsa-miR-4732-3p	CLIP-seq
MIRT2240942	hsa-miR-4760-5p	CLIP-seq
MIRT1040537	hsa-miR-4766-5p	CLIP-seq
MIRT1040538	hsa-miR-4774-3p	CLIP-seq
MIRT2240943	hsa-miR-4786-5p	CLIP-seq
MIRT1040541	hsa-miR-519a	CLIP-seq
MIRT2008490	hsa-miR-520d-5p	CLIP-seq
MIRT2008491	hsa-miR-524-5p	CLIP-seq
MIRT1040543	hsa-miR-548b-3p	CLIP-seq
MIRT1040544	hsa-miR-548g	CLIP-seq
MIRT1040545	hsa-miR-548q	CLIP-seq
MIRT2240944	hsa-miR-574-5p	CLIP-seq
MIRT1040546	hsa-miR-586	CLIP-seq
MIRT1040547	hsa-miR-605	CLIP-seq
MIRT1040548	hsa-miR-616	CLIP-seq
MIRT1040549	hsa-miR-648	CLIP-seq
MIRT1040550	hsa-miR-651	CLIP-seq
MIRT1040551	hsa-miR-670	CLIP-seq
MIRT1040552	hsa-miR-708	CLIP-seq
MIRT2240945	hsa-miR-944	CLIP-seq
MIRT1040484	hsa-miR-1283	CLIP-seq
MIRT1040485	hsa-miR-130a	CLIP-seq
MIRT1040486	hsa-miR-130b	CLIP-seq
MIRT1040489	hsa-miR-19a	CLIP-seq
MIRT1040490	hsa-miR-19b	CLIP-seq
MIRT1040492	hsa-miR-203	CLIP-seq
MIRT1040496	hsa-miR-28-5p	CLIP-seq
MIRT1040497	hsa-miR-301a	CLIP-seq
MIRT1040498	hsa-miR-301b	CLIP-seq
MIRT1040499	hsa-miR-302a	CLIP-seq
MIRT1040500	hsa-miR-302b	CLIP-seq
MIRT1040501	hsa-miR-302c	CLIP-seq
MIRT1040502	hsa-miR-302d	CLIP-seq
MIRT1040503	hsa-miR-31	CLIP-seq
MIRT1040509	hsa-miR-3139	CLIP-seq
MIRT1040511	hsa-miR-33a	CLIP-seq
MIRT1040512	hsa-miR-33b	CLIP-seq
MIRT1040515	hsa-miR-3685	CLIP-seq
MIRT1040516	hsa-miR-372	CLIP-seq
MIRT1040517	hsa-miR-373	CLIP-seq
MIRT1040518	hsa-miR-384	CLIP-seq
MIRT1040519	hsa-miR-3914	CLIP-seq
MIRT1040529	hsa-miR-4511	CLIP-seq
MIRT1040530	hsa-miR-452	CLIP-seq
MIRT1040531	hsa-miR-454	CLIP-seq
MIRT1040532	hsa-miR-4633-3p	CLIP-seq
MIRT1040533	hsa-miR-4676-3p	CLIP-seq
MIRT1040534	hsa-miR-4729	CLIP-seq
MIRT1040541	hsa-miR-519a	CLIP-seq
MIRT1040546	hsa-miR-586	CLIP-seq
MIRT1040548	hsa-miR-616	CLIP-seq
MIRT1040552	hsa-miR-708	CLIP-seq
MIRT1040480	hsa-miR-1256	CLIP-seq
MIRT1040484	hsa-miR-1283	CLIP-seq
MIRT1040485	hsa-miR-130a	CLIP-seq
MIRT1040486	hsa-miR-130b	CLIP-seq
MIRT1040489	hsa-miR-19a	CLIP-seq
MIRT1040490	hsa-miR-19b	CLIP-seq
MIRT1040492	hsa-miR-203	CLIP-seq
MIRT1040496	hsa-miR-28-5p	CLIP-seq
MIRT1040497	hsa-miR-301a	CLIP-seq
MIRT1040498	hsa-miR-301b	CLIP-seq
MIRT1040499	hsa-miR-302a	CLIP-seq
MIRT1040500	hsa-miR-302b	CLIP-seq
MIRT1040501	hsa-miR-302c	CLIP-seq
MIRT1040502	hsa-miR-302d	CLIP-seq
MIRT1040503	hsa-miR-31	CLIP-seq
MIRT1040508	hsa-miR-3135	CLIP-seq
MIRT1040509	hsa-miR-3139	CLIP-seq
MIRT1040511	hsa-miR-33a	CLIP-seq
MIRT1040512	hsa-miR-33b	CLIP-seq
MIRT1040515	hsa-miR-3685	CLIP-seq
MIRT1040516	hsa-miR-372	CLIP-seq
MIRT1040517	hsa-miR-373	CLIP-seq
MIRT1040518	hsa-miR-384	CLIP-seq
MIRT1040519	hsa-miR-3914	CLIP-seq
MIRT1040525	hsa-miR-4317	CLIP-seq
MIRT1040529	hsa-miR-4511	CLIP-seq
MIRT1040530	hsa-miR-452	CLIP-seq
MIRT1040531	hsa-miR-454	CLIP-seq
MIRT1040532	hsa-miR-4633-3p	CLIP-seq
MIRT1040533	hsa-miR-4676-3p	CLIP-seq
MIRT1040534	hsa-miR-4729	CLIP-seq
MIRT1040538	hsa-miR-4774-3p	CLIP-seq
MIRT1040541	hsa-miR-519a	CLIP-seq
MIRT1040546	hsa-miR-586	CLIP-seq
MIRT1040548	hsa-miR-616	CLIP-seq
MIRT1040549	hsa-miR-648	CLIP-seq
MIRT1040552	hsa-miR-708	CLIP-seq

Show/Hide all (41)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003723	Function	RNA binding	HDA	22658674
GO:0003857	Function	(3S)-3-hydroxyacyl-CoA dehydrogenase (NAD+) activity	TAS	1550553
GO:0003985	Function	Acetyl-CoA C-acetyltransferase activity	IBA
GO:0003985	Function	Acetyl-CoA C-acetyltransferase activity	IEA
GO:0003988	Function	Acetyl-CoA C-acyltransferase activity	IEA
GO:0003988	Function	Acetyl-CoA C-acyltransferase activity	TAS	8135828
GO:0004300	Function	Enoyl-CoA hydratase activity	TAS	1550553
GO:0005515	Function	Protein binding	IPI	20562859, 21527675, 28514442, 29915090, 30850536, 32243843, 33961781
GO:0005654	Component	Nucleoplasm	IDA
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IDA
GO:0005739	Component	Mitochondrion	IEA
GO:0005739	Component	Mitochondrion	IEA
GO:0005739	Component	Mitochondrion	NAS	7958339
GO:0005740	Component	Mitochondrial envelope	TAS	1550553
GO:0005741	Component	Mitochondrial outer membrane	IDA	21527675
GO:0005741	Component	Mitochondrial outer membrane	IEA
GO:0005743	Component	Mitochondrial inner membrane	IDA	21527675, 29915090
GO:0005743	Component	Mitochondrial inner membrane	IEA
GO:0005743	Component	Mitochondrial inner membrane	TAS
GO:0005783	Component	Endoplasmic reticulum	IDA	21527675
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0006629	Process	Lipid metabolic process	IEA
GO:0006631	Process	Fatty acid metabolic process	IEA
GO:0006635	Process	Fatty acid beta-oxidation	IBA
GO:0006635	Process	Fatty acid beta-oxidation	IDA	29915090
GO:0006635	Process	Fatty acid beta-oxidation	IEA
GO:0006635	Process	Fatty acid beta-oxidation	TAS	1550553
GO:0010467	Process	Gene expression	IEA
GO:0016020	Component	Membrane	IEA
GO:0016507	Component	Mitochondrial fatty acid beta-oxidation multienzyme complex	IBA
GO:0016507	Component	Mitochondrial fatty acid beta-oxidation multienzyme complex	IEA
GO:0016507	Component	Mitochondrial fatty acid beta-oxidation multienzyme complex	IPI	29915090
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:0042645	Component	Mitochondrial nucleoid	IDA	18063578
GO:0044877	Function	Protein-containing complex binding	IEA
GO:0050633	Function	Acetyl-CoA C-myristoyltransferase activity	IEA
GO:0071222	Process	Cellular response to lipopolysaccharide	IEA
GO:0106222	Function	LncRNA binding	IEA

MIM	HGNC	e!Ensembl
143450	4803	ENSG00000138029

P55084

Protein name

Trifunctional enzyme subunit beta, mitochondrial (TP-beta) [Includes: 3-ketoacyl-CoA thiolase (EC 2.3.1.155) (EC 2.3.1.16) (Acetyl-CoA acyltransferase) (Beta-ketothiolase)]

Protein function

Mitochondrial trifunctional enzyme catalyzes the last three of the four reactions of the mitochondrial beta-oxidation pathway (PubMed:29915090, PubMed:30850536, PubMed:8135828). The mitochondrial beta-oxidation pathway is the major energy-produc

PDB

5ZQZ , 5ZRV , 6DV2

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00108	Thiolase_N	54 → 324	Thiolase, N-terminal domain	Domain
PF02803	Thiolase_C	331 → 471	Thiolase, C-terminal domain	Domain

Sequence

MTILTYPFKNLPTASKWALRFSIRPLSCSSQLRAAPAVQTKTKKTLAKPNIRNVVVVDGV
RTPFLLSGTSYKDLMPHDLARAALTGLLHRTSVPKEVVDYIIFGTVIQEVKTSNVAREAA
LGAGFSDKTPAHTVTMACISANQAMTTGVGLIASGQCDVIVAGGVELMSDVPIRHSRKMR
KLMLDLNKAKSMGQRLSLISKFRFNFLAPELPAVSEFSTSETMGHSADRLAAAFAVSRLE
QDEYALRSHSLAKKAQDEGLLSDVVPFKVPGKDTVTKDNGIRPSSLEQMAKLKPAFIKPY
GTVTAANSSFLTDGASAMLIMAEEKALAMGYKPKAYLRDFMYVSQDPKDQLLLGPTYATP
KVLEKAGLTMNDIDAFEFHEAFSGQILANFKAMDSDWFAENYMGRKTKVGLPPLEKFNNW
GGSLSLGHPFGATGCRLVMAAANRLRKEGGQYGLVAACAAGGQGHAMIVEAYPK

Sequence length

474

Interactions

View interactions

	KEGG		Reactome
	Fatty acid elongation Fatty acid degradation Valine, leucine and isoleucine degradation Metabolic pathways Fatty acid metabolism		Acyl chain remodeling of CL Beta oxidation of myristoyl-CoA to lauroyl-CoA mitochondrial fatty acid beta-oxidation of unsaturated fatty acids Beta oxidation of palmitoyl-CoA to myristoyl-CoA Beta oxidation of lauroyl-CoA to decanoyl-CoA-CoA Beta oxidation of decanoyl-CoA to octanoyl-CoA-CoA Beta oxidation of octanoyl-CoA to hexanoyl-CoA Beta oxidation of hexanoyl-CoA to butanoyl-CoA

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (8)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Cervical cancer	Likely pathogenic	rs2465730931	RCV005927711	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
HADHA-related disorder	Likely pathogenic; Pathogenic	rs1558357879	RCV000779320	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
HADHB-related disorder	Likely pathogenic; Pathogenic	rs1376142506, rs755064267, rs752410797	RCV003391599 RCV003392990 RCV004756537	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Mitochondrial trifunctional protein deficiency	Pathogenic; Likely pathogenic	rs752264795, rs375329638, rs2147829909, rs2147832276, rs2147825407, rs552292698, rs1023807527, rs2147825515, rs1370999216, rs760714244, rs1558360731, rs764623179, rs1672959153, rs1671524499, rs907003380 View all (63 more)	RCV001389145 RCV001882729 RCV001907264 RCV001961811 RCV001916439 View all (75 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Mitochondrial trifunctional protein deficiency 1	Pathogenic; Likely pathogenic	rs752264795, rs951478194, rs1023807527, rs1558360731, rs1553322031, rs755064267, rs534616210, rs1156245096, rs773157876, rs121913132, rs121913133, rs2465738798, rs1672723966, rs200777054, rs776172237, rs745646607, rs780351691 View all (2 more)	RCV004570969 RCV004571098 RCV004572091 RCV004571175 RCV004574037 View all (12 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Mitochondrial trifunctional protein deficiency 2	Pathogenic; Likely pathogenic	rs752264795, rs375329638, rs951478194, rs552292698, rs760714244, rs1553322031, rs796051974, rs886037844, rs121913131, rs121913132, rs121913133, rs121913134, rs2465721008, rs267606859, rs2465737193, rs759136382 View all (1 more)	RCV005860228 RCV005023209 RCV003492274 RCV005400529 RCV005025783 View all (11 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Mitochondrial trifunctional protein deficiency 2 with myopathy and neuropathy	Pathogenic	rs764623179	RCV003156229	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Thyroid cancer, nonmedullary, 1	Likely pathogenic; Pathogenic	rs2465734892, rs200777054	RCV005927710 RCV005899631	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (28)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Acute myeloid leukemia	Likely benign; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Adrenocortical carcinoma, hereditary	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST NEOPLASMS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Charcot-Marie-Tooth disease	Uncertain significance	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Cholangiocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic lymphocytic leukemia/small lymphocytic lymphoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Uncertain significance; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial pancreatic carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FATTY LIVER	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FATTY LIVER, ALCOHOLIC	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEART DISEASES	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Metabolic acidosis	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MITOCHONDRIAL DISEASES	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-SMALL CELL LUNG CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Likely benign; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OLIGODENDROGLIOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Renal tubular acidosis	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Rickets	Uncertain significance	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Sarcoma	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TRIFUNCTIONAL PROTEIN DEFICIENCY WITH MYOPATHY AND NEUROPATHY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (71)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Abetalipoproteinemia	Abetalipoproteinemia	BEFREE	19699128, 24664533, 26109258, 30682426, 30953623, 31521624		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of prostate	Prostate adenocarcinoma	BEFREE	28890397		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adrenoleukodystrophy	Adrenoleukodystrophy	BEFREE	3469675		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	CTD_human_DG	21466612		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	22375075	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathies	Cardiomyopathy	BEFREE	24314034, 26070998		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	Pubtator	24314034	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Dilated	Cardiomyopathy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Carnitine Palmitoyltransferase II Deficiency Infantile	Carnitine palmitoyltransferase deficiency	Pubtator	24314034	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Charcot-Marie-Tooth Disease	Charcot-Marie-Tooth Disease	BEFREE	24314034, 29956646		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Cholestasis	Cholestasis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic Liver Failure	Liver failure	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Clumsiness - motor delay	Motor delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	29507648		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	29507648	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	33048115	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital clubfoot	Congenital Clubfoot	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Deficiency of acetyl-CoA acetyltransferase	Deficiency Of Acetyl-CoA Acetyltransferase	BEFREE	11161836, 24706027, 25231369, 28220263		★★★★★ ★☆☆☆☆ Found in Text Mining only
Disorder of skeletal muscle	Disorder Of Skeletal Muscle	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Distal peripheral sensory neuropathy	Distal peripheral sensory neuropathy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Fatty Liver	Fatty Liver	CTD_human_DG	17116638		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Fatty Liver Disease	Fatty Liver	BEFREE	26945479		★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart Diseases	CTD_human_DG	17116638		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary Sensory and Autonomic Neuropathies	Hereditary sensory and autonomic neuropathy	Pubtator	24314034	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hydrops Fetalis	Hydrops Fetalis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoparathyroidism	Hypoparathyroidism	BEFREE	24664533		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoparathyroidism	Hypoparathyroidism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ketosis	Ketosis	BEFREE	16950638		★★★★★ ★☆☆☆☆ Found in Text Mining only
Learning Disabilities	Learning Disorders	BEFREE	30953623		★★★★★ ★☆☆☆☆ Found in Text Mining only
Left Ventricular Hypertrophy	Left Ventricular Hypertrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Lipid Metabolism Disorders	Lipid Metabolism Disorders	CTD_human_DG	17116638		★★★★★ ★☆☆☆☆ Found in Text Mining only
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency	Long Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency	Long Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	CTD_human_DG	21466612		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	UNIPROT_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	26296974, 27689401, 28108419, 28890397		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	29507648		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mammary Carcinoma, Human	Marfan Syndrome	CTD_human_DG	21466612		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	CTD_human_DG	21466612		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms, Human	Mammary Neoplasms	CTD_human_DG	21466612		★★★★★ ★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	29395065		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mitochondrial trifunctional protein deficiency	Mitochondrial trifunctional protein deficiency	Orphanet			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Myopathy	Myopathy	BEFREE	30953623		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	24115277, 27689401, 28890397, 29507648		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuropathy	Neuropathy	BEFREE	30682426		★★★★★ ★☆☆☆☆ Found in Text Mining only
Non-alcoholic Fatty Liver Disease	Non-Alcoholic Fatty Liver Disease	BEFREE	26945479		★★★★★ ★☆☆☆☆ Found in Text Mining only
Peripheral axonal neuropathy	Peripheral axonal neuropathy	BEFREE	30953623		★★★★★ ★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Nervous System Diseases	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Polyneuropathy	Polyneuropathy	BEFREE	24664533		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	26296974, 27689401, 28108419, 28890397		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	21357687, 26296974, 27689401, 28108419	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
prostatitis	Prostatitis	BEFREE	31271729		★★★★★ ★☆☆☆☆ Found in Text Mining only
Respiratory Failure	Respiratory Failure	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis Pigmentosa	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Sensorimotor neuropathy	Sensorimotor neuropathy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	CTD_human_DG	17116638		★★★★★ ★☆☆☆☆ Found in Text Mining only
Tricuspid Valve Insufficiency	Tricuspid Valve Insufficiency	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Trifunctional Protein Deficiency With Myopathy And Neuropathy	Mitochondrial trifunctional protein deficiency	UNIPROT_DG	12754706, 8651282, 9259266		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Trifunctional Protein Deficiency With Myopathy And Neuropathy	Mitochondrial trifunctional protein deficiency	CLINVAR_DG	12754706, 21549624		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Trifunctional Protein Deficiency With Myopathy And Neuropathy	Mitochondrial trifunctional protein deficiency	CLINGEN_DG	12754706, 17116638, 19699128, 8651282		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Trifunctional Protein Deficiency With Myopathy And Neuropathy	Mitochondrial trifunctional protein deficiency	BEFREE	17143551, 21549624, 22000755, 22459206, 25420603, 28112527, 29956646, 31521624		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Trifunctional Protein Deficiency With Myopathy And Neuropathy	Trifunctional protein deficiency	Pubtator	24314034, 26109258, 29095929, 34878152, 35023662	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Trifunctional Protein Deficiency With Myopathy And Neuropathy	Mitochondrial trifunctional protein deficiency	GENOMICS_ENGLAND_DG	25929793, 27604308		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Trifunctional Protein Deficiency With Myopathy And Neuropathy	Mitochondrial trifunctional protein deficiency	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Trifunctional Protein Deficiency With Myopathy And Neuropathy	Mitochondrial trifunctional protein deficiency	ORPHANET_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Trifunctional Protein Deficiency, Type 2	Trifunctional Protein Deficiency	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	21983220	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

HADHB (hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta)