HADHA (hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha)

Gene

• Entrez ID: 3030
• Gene name: Hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha
• Gene symbol: HADHA
• Synonyms (NCBI Gene): ECHA, GBP, HADH, LCEH, LCHAD, MLCL AT, MTPA, TP-ALPHA
• Chromosome: 2
• Chromosome location: 2p23.3
• Summary: This gene encodes the alpha 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 fo

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs71441018	C>G	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs116320983	C>A,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs116396996	C>G	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Synonymous variant, coding sequence variant
rs137852770	G>A	Likely-pathogenic, pathogenic	Stop gained, coding sequence variant
rs137852772	A>G	Pathogenic	Coding sequence variant, missense variant
rs137852773	A>T	Pathogenic	Coding sequence variant, missense variant
rs137852774	A>G,T	Likely-pathogenic, uncertain-significance, pathogenic	Coding sequence variant, missense variant
rs137852775	G>A	Pathogenic	Stop gained, coding sequence variant
rs147103714	G>A,T	Likely-pathogenic, pathogenic, likely-benign	Coding sequence variant, synonymous variant, stop gained
rs200017313	T>C	Likely-pathogenic, pathogenic	Splice acceptor variant
rs772683361	A>G	Pathogenic	Splice donor variant
rs774235292	->T	Likely-pathogenic	Coding sequence variant, frameshift variant
rs781205883	GAGAT>-	Likely-pathogenic, pathogenic	Frameshift variant, coding sequence variant
rs781222705	T>C	Likely-pathogenic, pathogenic	Intron variant
rs786204607	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs786205088	C>T	Likely-pathogenic, pathogenic	Splice donor variant
rs794727700	T>C	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs796051972	G>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1057516326	C>G,T	Likely-pathogenic	Missense variant, coding sequence variant, stop gained
rs1057516417	C>T	Likely-pathogenic	Splice donor variant
rs1057516460	GATGCCTGCA>-	Likely-pathogenic, pathogenic	Splice acceptor variant, coding sequence variant, intron variant
rs1057516556	T>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1057517087	T>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1057517282	G>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1243779049	G>A	Pathogenic, likely-pathogenic	Coding sequence variant, stop gained
rs1298883200	->A	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1458898996	C>T	Likely-pathogenic	Splice acceptor variant
rs1553314023	TCT>-	Likely-pathogenic	Coding sequence variant, splice acceptor variant
rs1553314024	C>A	Likely-pathogenic	Splice acceptor variant
rs1553314070	C>T	Likely-pathogenic	Splice acceptor variant
rs1553316142	GATACC>AT	Pathogenic	Splice donor variant, intron variant, coding sequence variant
rs1553316176	A>-	Likely-pathogenic	Stop gained, coding sequence variant
rs1574623071	->A	Pathogenic	Stop gained, coding sequence variant
rs1574624062	G>A	Likely-pathogenic	Coding sequence variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT022799	hsa-miR-124-3p	Proteomics;Microarray	18668037
MIRT052018	hsa-let-7b-5p	CLASH	23622248
MIRT049028	hsa-miR-92a-3p	CLASH	23622248
MIRT042269	hsa-miR-484	CLASH	23622248
MIRT040109	hsa-miR-615-3p	CLASH	23622248
MIRT039455	hsa-miR-421	CLASH	23622248
MIRT037157	hsa-miR-877-3p	CLASH	23622248
MIRT1040450	hsa-miR-124	CLIP-seq
MIRT1040451	hsa-miR-130a	CLIP-seq
MIRT1040452	hsa-miR-130b	CLIP-seq
MIRT1040453	hsa-miR-19a	CLIP-seq
MIRT1040454	hsa-miR-19b	CLIP-seq
MIRT1040455	hsa-miR-224	CLIP-seq
MIRT1040456	hsa-miR-301a	CLIP-seq
MIRT1040457	hsa-miR-301b	CLIP-seq
MIRT1040458	hsa-miR-3129-3p	CLIP-seq
MIRT1040459	hsa-miR-3664-5p	CLIP-seq
MIRT1040460	hsa-miR-3666	CLIP-seq
MIRT1040461	hsa-miR-4295	CLIP-seq
MIRT1040462	hsa-miR-4417	CLIP-seq
MIRT1040463	hsa-miR-4437	CLIP-seq
MIRT1040464	hsa-miR-4468	CLIP-seq
MIRT1040465	hsa-miR-4493	CLIP-seq
MIRT1040466	hsa-miR-4519	CLIP-seq
MIRT1040467	hsa-miR-454	CLIP-seq
MIRT1040468	hsa-miR-4666-3p	CLIP-seq
MIRT1040469	hsa-miR-4674	CLIP-seq
MIRT1040470	hsa-miR-4714-5p	CLIP-seq
MIRT1040471	hsa-miR-4724-3p	CLIP-seq
MIRT1040472	hsa-miR-506	CLIP-seq
MIRT1040473	hsa-miR-511	CLIP-seq
MIRT1040474	hsa-miR-519a	CLIP-seq
MIRT1040475	hsa-miR-519b-3p	CLIP-seq
MIRT1040476	hsa-miR-519c-3p	CLIP-seq
MIRT1040477	hsa-miR-647	CLIP-seq
MIRT1040478	hsa-miR-942	CLIP-seq
MIRT2008428	hsa-miR-1207-3p	CLIP-seq
MIRT2008429	hsa-miR-1226	CLIP-seq
MIRT1040450	hsa-miR-124	CLIP-seq
MIRT2008430	hsa-miR-1245b-3p	CLIP-seq
MIRT2008431	hsa-miR-1245b-5p	CLIP-seq
MIRT2008432	hsa-miR-1267	CLIP-seq
MIRT2008433	hsa-miR-1270	CLIP-seq
MIRT2008434	hsa-miR-1273f	CLIP-seq
MIRT1040451	hsa-miR-130a	CLIP-seq
MIRT1040452	hsa-miR-130b	CLIP-seq
MIRT2008435	hsa-miR-185	CLIP-seq
MIRT2008436	hsa-miR-197	CLIP-seq
MIRT1040455	hsa-miR-224	CLIP-seq
MIRT2008437	hsa-miR-298	CLIP-seq
MIRT2008438	hsa-miR-300	CLIP-seq
MIRT1040456	hsa-miR-301a	CLIP-seq
MIRT1040457	hsa-miR-301b	CLIP-seq
MIRT1040458	hsa-miR-3129-3p	CLIP-seq
MIRT2008439	hsa-miR-3136-5p	CLIP-seq
MIRT2008440	hsa-miR-3142	CLIP-seq
MIRT2008441	hsa-miR-3170	CLIP-seq
MIRT2008442	hsa-miR-3176	CLIP-seq
MIRT2008443	hsa-miR-331-3p	CLIP-seq
MIRT2008444	hsa-miR-3620	CLIP-seq
MIRT2008445	hsa-miR-3652	CLIP-seq
MIRT1040459	hsa-miR-3664-5p	CLIP-seq
MIRT1040460	hsa-miR-3666	CLIP-seq
MIRT2008446	hsa-miR-3689a-3p	CLIP-seq
MIRT2008447	hsa-miR-3689c	CLIP-seq
MIRT2008448	hsa-miR-381	CLIP-seq
MIRT2008449	hsa-miR-3922-3p	CLIP-seq
MIRT2008450	hsa-miR-3928	CLIP-seq
MIRT2008451	hsa-miR-3942-3p	CLIP-seq
MIRT2008452	hsa-miR-412	CLIP-seq
MIRT2008453	hsa-miR-4252	CLIP-seq
MIRT2008454	hsa-miR-4290	CLIP-seq
MIRT1040461	hsa-miR-4295	CLIP-seq
MIRT2008455	hsa-miR-4306	CLIP-seq
MIRT1040462	hsa-miR-4417	CLIP-seq
MIRT2008456	hsa-miR-4419a	CLIP-seq
MIRT2008457	hsa-miR-4430	CLIP-seq
MIRT2008458	hsa-miR-4434	CLIP-seq
MIRT1040463	hsa-miR-4437	CLIP-seq
MIRT2008459	hsa-miR-4439	CLIP-seq
MIRT2008460	hsa-miR-4459	CLIP-seq
MIRT1040464	hsa-miR-4468	CLIP-seq
MIRT2008461	hsa-miR-4473	CLIP-seq
MIRT1040465	hsa-miR-4493	CLIP-seq
MIRT2008462	hsa-miR-4505	CLIP-seq
MIRT2008463	hsa-miR-4508	CLIP-seq
MIRT2008464	hsa-miR-4510	CLIP-seq
MIRT2008465	hsa-miR-4513	CLIP-seq
MIRT2008466	hsa-miR-4514	CLIP-seq
MIRT2008467	hsa-miR-4516	CLIP-seq
MIRT1040466	hsa-miR-4519	CLIP-seq
MIRT2008468	hsa-miR-4531	CLIP-seq
MIRT1040467	hsa-miR-454	CLIP-seq
MIRT2008469	hsa-miR-4644	CLIP-seq
MIRT1040468	hsa-miR-4666-3p	CLIP-seq
MIRT2008470	hsa-miR-4671-3p	CLIP-seq
MIRT1040469	hsa-miR-4674	CLIP-seq
MIRT2008471	hsa-miR-4692	CLIP-seq
MIRT2008472	hsa-miR-4701-5p	CLIP-seq
MIRT1040471	hsa-miR-4724-3p	CLIP-seq
MIRT2008473	hsa-miR-4728-5p	CLIP-seq
MIRT2008474	hsa-miR-4731-5p	CLIP-seq
MIRT2008475	hsa-miR-4733-3p	CLIP-seq
MIRT2008476	hsa-miR-4757-5p	CLIP-seq
MIRT2008477	hsa-miR-4779	CLIP-seq
MIRT2008478	hsa-miR-4789-5p	CLIP-seq
MIRT2008479	hsa-miR-4797-5p	CLIP-seq
MIRT1040472	hsa-miR-506	CLIP-seq
MIRT2008480	hsa-miR-588	CLIP-seq
MIRT2008481	hsa-miR-589	CLIP-seq
MIRT2008482	hsa-miR-620	CLIP-seq
MIRT2008483	hsa-miR-634	CLIP-seq
MIRT2008484	hsa-miR-635	CLIP-seq
MIRT2008485	hsa-miR-642b	CLIP-seq
MIRT2008486	hsa-miR-645	CLIP-seq
MIRT1040477	hsa-miR-647	CLIP-seq
MIRT2008487	hsa-miR-659	CLIP-seq
MIRT2008488	hsa-miR-665	CLIP-seq
MIRT2008489	hsa-miR-760	CLIP-seq
MIRT2008428	hsa-miR-1207-3p	CLIP-seq
MIRT2008429	hsa-miR-1226	CLIP-seq
MIRT2008432	hsa-miR-1267	CLIP-seq
MIRT2008433	hsa-miR-1270	CLIP-seq
MIRT2008434	hsa-miR-1273f	CLIP-seq
MIRT1040451	hsa-miR-130a	CLIP-seq
MIRT1040452	hsa-miR-130b	CLIP-seq
MIRT2008435	hsa-miR-185	CLIP-seq
MIRT2008436	hsa-miR-197	CLIP-seq
MIRT1040455	hsa-miR-224	CLIP-seq
MIRT1040456	hsa-miR-301a	CLIP-seq
MIRT1040457	hsa-miR-301b	CLIP-seq
MIRT1040458	hsa-miR-3129-3p	CLIP-seq
MIRT2008439	hsa-miR-3136-5p	CLIP-seq
MIRT2008441	hsa-miR-3170	CLIP-seq
MIRT2008445	hsa-miR-3652	CLIP-seq
MIRT1040459	hsa-miR-3664-5p	CLIP-seq
MIRT1040460	hsa-miR-3666	CLIP-seq
MIRT2008452	hsa-miR-412	CLIP-seq
MIRT2008453	hsa-miR-4252	CLIP-seq
MIRT1040461	hsa-miR-4295	CLIP-seq
MIRT2008455	hsa-miR-4306	CLIP-seq
MIRT2008456	hsa-miR-4419a	CLIP-seq
MIRT2008457	hsa-miR-4430	CLIP-seq
MIRT2008458	hsa-miR-4434	CLIP-seq
MIRT2008459	hsa-miR-4439	CLIP-seq
MIRT2008460	hsa-miR-4459	CLIP-seq
MIRT2008461	hsa-miR-4473	CLIP-seq
MIRT2008462	hsa-miR-4505	CLIP-seq
MIRT2008464	hsa-miR-4510	CLIP-seq
MIRT2008465	hsa-miR-4513	CLIP-seq
MIRT2008467	hsa-miR-4516	CLIP-seq
MIRT2008468	hsa-miR-4531	CLIP-seq
MIRT1040467	hsa-miR-454	CLIP-seq
MIRT2008469	hsa-miR-4644	CLIP-seq
MIRT2008470	hsa-miR-4671-3p	CLIP-seq
MIRT2008474	hsa-miR-4731-5p	CLIP-seq
MIRT2008475	hsa-miR-4733-3p	CLIP-seq
MIRT2008477	hsa-miR-4779	CLIP-seq
MIRT2008479	hsa-miR-4797-5p	CLIP-seq
MIRT2008481	hsa-miR-589	CLIP-seq
MIRT2008482	hsa-miR-620	CLIP-seq
MIRT2008483	hsa-miR-634	CLIP-seq
MIRT2008485	hsa-miR-642b	CLIP-seq
MIRT1040477	hsa-miR-647	CLIP-seq
MIRT2008487	hsa-miR-659	CLIP-seq
MIRT2008488	hsa-miR-665	CLIP-seq
MIRT2008428	hsa-miR-1207-3p	CLIP-seq
MIRT2008432	hsa-miR-1267	CLIP-seq
MIRT2008433	hsa-miR-1270	CLIP-seq
MIRT1040451	hsa-miR-130a	CLIP-seq
MIRT1040452	hsa-miR-130b	CLIP-seq
MIRT2008437	hsa-miR-298	CLIP-seq
MIRT1040456	hsa-miR-301a	CLIP-seq
MIRT1040457	hsa-miR-301b	CLIP-seq
MIRT2008439	hsa-miR-3136-5p	CLIP-seq
MIRT2008441	hsa-miR-3170	CLIP-seq
MIRT2008445	hsa-miR-3652	CLIP-seq
MIRT1040459	hsa-miR-3664-5p	CLIP-seq
MIRT1040460	hsa-miR-3666	CLIP-seq
MIRT1040461	hsa-miR-4295	CLIP-seq
MIRT2008457	hsa-miR-4430	CLIP-seq
MIRT2008458	hsa-miR-4434	CLIP-seq
MIRT2008459	hsa-miR-4439	CLIP-seq
MIRT2008461	hsa-miR-4473	CLIP-seq
MIRT2008462	hsa-miR-4505	CLIP-seq
MIRT2008465	hsa-miR-4513	CLIP-seq
MIRT2008467	hsa-miR-4516	CLIP-seq
MIRT2008468	hsa-miR-4531	CLIP-seq
MIRT1040467	hsa-miR-454	CLIP-seq
MIRT2008470	hsa-miR-4671-3p	CLIP-seq
MIRT2008474	hsa-miR-4731-5p	CLIP-seq
MIRT2008479	hsa-miR-4797-5p	CLIP-seq
MIRT2008481	hsa-miR-589	CLIP-seq
MIRT2008482	hsa-miR-620	CLIP-seq
MIRT2008483	hsa-miR-634	CLIP-seq
MIRT2008485	hsa-miR-642b	CLIP-seq
MIRT1040477	hsa-miR-647	CLIP-seq
MIRT2008487	hsa-miR-659	CLIP-seq
MIRT2008429	hsa-miR-1226	CLIP-seq
MIRT1040450	hsa-miR-124	CLIP-seq
MIRT2008430	hsa-miR-1245b-3p	CLIP-seq
MIRT2008431	hsa-miR-1245b-5p	CLIP-seq
MIRT2008434	hsa-miR-1273f	CLIP-seq
MIRT1040451	hsa-miR-130a	CLIP-seq
MIRT1040452	hsa-miR-130b	CLIP-seq
MIRT2544456	hsa-miR-1825	CLIP-seq
MIRT2008435	hsa-miR-185	CLIP-seq
MIRT2008436	hsa-miR-197	CLIP-seq
MIRT1040453	hsa-miR-19a	CLIP-seq
MIRT1040454	hsa-miR-19b	CLIP-seq
MIRT1040455	hsa-miR-224	CLIP-seq
MIRT2008437	hsa-miR-298	CLIP-seq
MIRT2008438	hsa-miR-300	CLIP-seq
MIRT1040456	hsa-miR-301a	CLIP-seq
MIRT1040457	hsa-miR-301b	CLIP-seq
MIRT1040458	hsa-miR-3129-3p	CLIP-seq
MIRT2544457	hsa-miR-3130-5p	CLIP-seq
MIRT2008440	hsa-miR-3142	CLIP-seq
MIRT2008442	hsa-miR-3176	CLIP-seq
MIRT2008443	hsa-miR-331-3p	CLIP-seq
MIRT2008444	hsa-miR-3620	CLIP-seq
MIRT2008445	hsa-miR-3652	CLIP-seq
MIRT1040460	hsa-miR-3666	CLIP-seq
MIRT2008446	hsa-miR-3689a-3p	CLIP-seq
MIRT2008447	hsa-miR-3689c	CLIP-seq
MIRT2544458	hsa-miR-371-3p	CLIP-seq
MIRT2008448	hsa-miR-381	CLIP-seq
MIRT2008449	hsa-miR-3922-3p	CLIP-seq
MIRT2008450	hsa-miR-3928	CLIP-seq
MIRT2008451	hsa-miR-3942-3p	CLIP-seq
MIRT2008452	hsa-miR-412	CLIP-seq
MIRT2008453	hsa-miR-4252	CLIP-seq
MIRT2544459	hsa-miR-4270	CLIP-seq
MIRT2008454	hsa-miR-4290	CLIP-seq
MIRT1040461	hsa-miR-4295	CLIP-seq
MIRT2008455	hsa-miR-4306	CLIP-seq
MIRT1040462	hsa-miR-4417	CLIP-seq
MIRT2008456	hsa-miR-4419a	CLIP-seq
MIRT2008457	hsa-miR-4430	CLIP-seq
MIRT1040463	hsa-miR-4437	CLIP-seq
MIRT2544460	hsa-miR-4441	CLIP-seq
MIRT2008460	hsa-miR-4459	CLIP-seq
MIRT1040464	hsa-miR-4468	CLIP-seq
MIRT2544461	hsa-miR-4482	CLIP-seq
MIRT1040465	hsa-miR-4493	CLIP-seq
MIRT2008462	hsa-miR-4505	CLIP-seq
MIRT2008463	hsa-miR-4508	CLIP-seq
MIRT2008464	hsa-miR-4510	CLIP-seq
MIRT2008466	hsa-miR-4514	CLIP-seq
MIRT1040466	hsa-miR-4519	CLIP-seq
MIRT1040467	hsa-miR-454	CLIP-seq
MIRT2008469	hsa-miR-4644	CLIP-seq
MIRT1040468	hsa-miR-4666-3p	CLIP-seq
MIRT1040469	hsa-miR-4674	CLIP-seq
MIRT2008471	hsa-miR-4692	CLIP-seq
MIRT2008472	hsa-miR-4701-5p	CLIP-seq
MIRT1040471	hsa-miR-4724-3p	CLIP-seq
MIRT2008473	hsa-miR-4728-5p	CLIP-seq
MIRT2008475	hsa-miR-4733-3p	CLIP-seq
MIRT2008476	hsa-miR-4757-5p	CLIP-seq
MIRT2008477	hsa-miR-4779	CLIP-seq
MIRT2008478	hsa-miR-4789-5p	CLIP-seq
MIRT2008479	hsa-miR-4797-5p	CLIP-seq
MIRT1040472	hsa-miR-506	CLIP-seq
MIRT1040474	hsa-miR-519a	CLIP-seq
MIRT1040475	hsa-miR-519b-3p	CLIP-seq
MIRT1040476	hsa-miR-519c-3p	CLIP-seq
MIRT2008480	hsa-miR-588	CLIP-seq
MIRT2544462	hsa-miR-604	CLIP-seq
MIRT2008484	hsa-miR-635	CLIP-seq
MIRT2008485	hsa-miR-642b	CLIP-seq
MIRT2008486	hsa-miR-645	CLIP-seq
MIRT1040477	hsa-miR-647	CLIP-seq
MIRT2008487	hsa-miR-659	CLIP-seq
MIRT2008488	hsa-miR-665	CLIP-seq
MIRT2008489	hsa-miR-760	CLIP-seq
MIRT2008429	hsa-miR-1226	CLIP-seq
MIRT1040450	hsa-miR-124	CLIP-seq
MIRT2008430	hsa-miR-1245b-3p	CLIP-seq
MIRT2008431	hsa-miR-1245b-5p	CLIP-seq
MIRT2008434	hsa-miR-1273f	CLIP-seq
MIRT1040451	hsa-miR-130a	CLIP-seq
MIRT1040452	hsa-miR-130b	CLIP-seq
MIRT2544456	hsa-miR-1825	CLIP-seq
MIRT2008435	hsa-miR-185	CLIP-seq
MIRT2008436	hsa-miR-197	CLIP-seq
MIRT1040453	hsa-miR-19a	CLIP-seq
MIRT1040454	hsa-miR-19b	CLIP-seq
MIRT1040455	hsa-miR-224	CLIP-seq
MIRT2008437	hsa-miR-298	CLIP-seq
MIRT2008438	hsa-miR-300	CLIP-seq
MIRT1040456	hsa-miR-301a	CLIP-seq
MIRT1040457	hsa-miR-301b	CLIP-seq
MIRT1040458	hsa-miR-3129-3p	CLIP-seq
MIRT2544457	hsa-miR-3130-5p	CLIP-seq
MIRT2008440	hsa-miR-3142	CLIP-seq
MIRT2008442	hsa-miR-3176	CLIP-seq
MIRT2008443	hsa-miR-331-3p	CLIP-seq
MIRT2008444	hsa-miR-3620	CLIP-seq
MIRT2008445	hsa-miR-3652	CLIP-seq
MIRT1040460	hsa-miR-3666	CLIP-seq
MIRT2008446	hsa-miR-3689a-3p	CLIP-seq
MIRT2008447	hsa-miR-3689c	CLIP-seq
MIRT2544458	hsa-miR-371-3p	CLIP-seq
MIRT2008448	hsa-miR-381	CLIP-seq
MIRT2008449	hsa-miR-3922-3p	CLIP-seq
MIRT2008450	hsa-miR-3928	CLIP-seq
MIRT2008451	hsa-miR-3942-3p	CLIP-seq
MIRT2008452	hsa-miR-412	CLIP-seq
MIRT2008453	hsa-miR-4252	CLIP-seq
MIRT2544459	hsa-miR-4270	CLIP-seq
MIRT2008454	hsa-miR-4290	CLIP-seq
MIRT1040461	hsa-miR-4295	CLIP-seq
MIRT2008455	hsa-miR-4306	CLIP-seq
MIRT1040462	hsa-miR-4417	CLIP-seq
MIRT2008456	hsa-miR-4419a	CLIP-seq
MIRT2008457	hsa-miR-4430	CLIP-seq
MIRT1040463	hsa-miR-4437	CLIP-seq
MIRT2544460	hsa-miR-4441	CLIP-seq
MIRT2008460	hsa-miR-4459	CLIP-seq
MIRT1040464	hsa-miR-4468	CLIP-seq
MIRT2544461	hsa-miR-4482	CLIP-seq
MIRT1040465	hsa-miR-4493	CLIP-seq
MIRT2008462	hsa-miR-4505	CLIP-seq
MIRT2008463	hsa-miR-4508	CLIP-seq
MIRT2008464	hsa-miR-4510	CLIP-seq
MIRT2008466	hsa-miR-4514	CLIP-seq
MIRT1040466	hsa-miR-4519	CLIP-seq
MIRT1040467	hsa-miR-454	CLIP-seq
MIRT2008469	hsa-miR-4644	CLIP-seq
MIRT1040468	hsa-miR-4666-3p	CLIP-seq
MIRT1040469	hsa-miR-4674	CLIP-seq
MIRT2008471	hsa-miR-4692	CLIP-seq
MIRT2008472	hsa-miR-4701-5p	CLIP-seq
MIRT1040471	hsa-miR-4724-3p	CLIP-seq
MIRT2008473	hsa-miR-4728-5p	CLIP-seq
MIRT2008475	hsa-miR-4733-3p	CLIP-seq
MIRT2008476	hsa-miR-4757-5p	CLIP-seq
MIRT2008477	hsa-miR-4779	CLIP-seq
MIRT2008478	hsa-miR-4789-5p	CLIP-seq
MIRT2008479	hsa-miR-4797-5p	CLIP-seq
MIRT1040472	hsa-miR-506	CLIP-seq
MIRT1040474	hsa-miR-519a	CLIP-seq
MIRT1040475	hsa-miR-519b-3p	CLIP-seq
MIRT1040476	hsa-miR-519c-3p	CLIP-seq
MIRT2008480	hsa-miR-588	CLIP-seq
MIRT2544462	hsa-miR-604	CLIP-seq
MIRT2008484	hsa-miR-635	CLIP-seq
MIRT2008485	hsa-miR-642b	CLIP-seq
MIRT2008486	hsa-miR-645	CLIP-seq
MIRT1040477	hsa-miR-647	CLIP-seq
MIRT2008487	hsa-miR-659	CLIP-seq
MIRT2008488	hsa-miR-665	CLIP-seq
MIRT2008489	hsa-miR-760	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003824	Function	Catalytic activity	IEA
GO:0003857	Function	(3S)-3-hydroxyacyl-CoA dehydrogenase (NAD+) activity	IEA
GO:0003857	Function	(3S)-3-hydroxyacyl-CoA dehydrogenase (NAD+) activity	TAS	8135828
GO:0003985	Function	Acetyl-CoA C-acetyltransferase activity	TAS	8135828
GO:0004300	Function	Enoyl-CoA hydratase activity	IBA
GO:0004300	Function	Enoyl-CoA hydratase activity	IEA
GO:0004300	Function	Enoyl-CoA hydratase activity	TAS	8135828
GO:0005515	Function	Protein binding	IPI	20562859, 28514442, 29915090, 30850536, 32814053, 33961781
GO:0005739	Component	Mitochondrion	HDA	20833797
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IDA	23152787
GO:0005739	Component	Mitochondrion	IEA
GO:0005743	Component	Mitochondrial inner membrane	IDA	29915090
GO:0005743	Component	Mitochondrial inner membrane	IEA
GO:0005743	Component	Mitochondrial inner membrane	TAS
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	IEA
GO:0006635	Process	Fatty acid beta-oxidation	IMP	31604922
GO:0016020	Component	Membrane	IEA
GO:0016491	Function	Oxidoreductase activity	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:0016509	Function	Long-chain (3S)-3-hydroxyacyl-CoA dehydrogenase (NAD+) activity	IBA
GO:0016509	Function	Long-chain (3S)-3-hydroxyacyl-CoA dehydrogenase (NAD+) activity	IEA
GO:0016616	Function	Oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0016829	Function	Lyase activity	IEA
GO:0018812	Function	3-hydroxyacyl-CoA dehydratase activity	IEA
GO:0032868	Process	Response to insulin	IEA
GO:0035965	Process	Cardiolipin acyl-chain remodeling	IDA	23152787
GO:0035965	Process	Cardiolipin acyl-chain remodeling	IMP	31604922
GO:0042645	Component	Mitochondrial nucleoid	IDA	18063578
GO:0052816	Function	Long-chain fatty acyl-CoA hydrolase activity	IDA	22586271
GO:0070403	Function	NAD+ binding	IEA

Other IDs

• MIM: 600890
• HGNC: 4801
• e!Ensembl: ENSG00000084754

Protein

• UniProt ID: P40939
• Protein name: Trifunctional enzyme subunit alpha, mitochondrial (78 kDa gastrin-binding protein) (Monolysocardiolipin acyltransferase) (MLCL AT) (EC 2.3.1.-) (TP-alpha) [Includes: Long-chain enoyl-CoA hydratase (EC 4.2.1.17); Long chain 3-hydroxyacyl-CoA dehydrogenase
• Protein function: Mitochondrial trifunctional enzyme catalyzes the last three of the four reactions of the mitochondrial beta-oxidation pathway (PubMed:1550553, PubMed:29915090, PubMed:30850536, PubMed:8135828, PubMed:31604922). The mitochondrial beta-oxidation p
• PDB: 5ZQZ, 5ZRV, 6DV2
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00378	ECH_1	44 → 242	Enoyl-CoA hydratase/isomerase	Domain
  PF02737	3HCDH_N	363 → 542	3-hydroxyacyl-CoA dehydrogenase, NAD binding domain	Domain
  PF00725	3HCDH	544 → 639	3-hydroxyacyl-CoA dehydrogenase, C-terminal domain	Domain
  PF00725	3HCDH	673 → 760	3-hydroxyacyl-CoA dehydrogenase, C-terminal domain	Domain

• Sequence:

  MVACRAIGILSRFSAFRILRSRGYICRNFTGSSALLTRTHINYGVKGDVAVVRINSPNSK
  VNTLSKELHSEFSEVMNEIWASDQIRSAVLISSKPGCFIAGADINMLAACKTLQEVTQLS
  QEAQRIVEKLEKSTKPIVAAINGSCLGGGLEVAISCQYRIATKDRKTVLGTPEVLLGALP
  GAGGTQRLPKMVGVPAALDMMLTGRSIRADRAKKMGLVDQLVEPLGPGLKPPEERTIEYL
  EEVAITFAKGLADKKISPKRDKGLVEKLTAYAMTIPFVRQQVYKKVEEKVRKQTKGLYPA
  PLKIIDVVKTGIEQGSDAGYLCESQKFGELVMTKESKALMGLYHGQVLCKKNKFGAPQKD
  VKHLAILGAGLMGAGIAQVSVDKGLKTILKDATLTALDRGQQQVFKGLNDKVKKKALTSF
  ERDSIFSNLTGQLDYQGFEKADMVIEAVFEDLSLKHRVLKEVEAVIPDHCIFASNTSALP
  ISEIAAVSKRPEKVIGMHYFSPVDKMQLLEIITTEKTSKDTSASAVAVGLKQGKVIIVVK
  DGPGFYTTRCLAPMMSEVIRILQEGVDPKKLDSLTTSFGFPVGAATLVDEVGVDVAKHVA
  EDLGKVFGERFGGGNPELLTQMVSKGFLGRKSGKGFYIYQEGVKRKDLNSDMDSILASLK
  LPPKSEVSSDEDIQFRLVTRFVNEAVMCLQEGILATPAEGDIGAVFGLGFPPCLGGPFRF
  VDLYGAQKIVDRLKKYEAAYGKQFTPCQLLADHANSPNKKFYQ

• Sequence length: 763

Pathways

KEGG:

Fatty acid elongation
Fatty acid degradation
Valine, leucine and isoleucine degradation
Lysine degradation
Tryptophan metabolism
beta-Alanine metabolism
Propanoate metabolism
Butanoate metabolism
Metabolic pathways
Fatty acid metabolism

Reactome:

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

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
HADHA-related disorder	Pathogenic; Likely pathogenic	rs137852769, rs781205883	RCV004545223 RCV000779319 RCV000778608	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hepatocellular carcinoma	Pathogenic	rs1574602991	RCV005912138	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
LCHAD deficiency with maternal acute fatty liver of pregnancy	Likely pathogenic; Pathogenic	rs137852769	RCV000009267	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency	Likely pathogenic; Pathogenic	rs771028541, rs757671025, rs137852769, rs754145990, rs2147759662, rs2147784383, rs2147762308, rs2147748812, rs2147753069, rs2147753555, rs2147769993, rs2147781182, rs2147753741, rs780350631, rs2147749450, rs2147753630, rs2147766716, rs774114061, rs2147762267, rs1478391725, rs1322871046, rs1670695370, rs2147768516, rs1670773680, rs1558315590, rs2147762411, rs1669575714, rs2465515942, rs2465508542, rs2465534615, rs2465595773, rs2465517691, rs2465605117, rs1016253580, rs2465561815, rs1303177735, rs2465508731, rs749848370, rs779113356, rs769580842, rs786204607, rs781205883, rs200017313, rs934411514, rs2465505035, rs794727219, rs794727700, rs2465508716, rs1445488113, rs796051971, rs1167218743, rs2465609001, rs2465504793, rs1669507506, rs2465534647, rs2465605243, rs762700531, rs779640035, rs868693884, rs2465504803, rs771622695, rs2465596090, rs2465608988, rs1669916953, rs137852770, rs786205088, rs781222705, rs137852771, rs1574600309, rs137852774, rs137852775, rs2465513035, rs541591704, rs1448524929, rs2465517597, rs2465534656, rs1297938234, rs2465591445, rs2465517653, rs2465556864, rs2465505643, rs2465508561, rs2465552540, rs2465505819, rs2465560325, rs2465504974, rs2465505832, rs2465504992, rs1183351612, rs2465605379, rs2465534201, rs2465595752, rs2465560313, rs2465506111, rs2465508638, rs2465560282, rs2465540650, rs2465534617, rs2465506002, rs2465556878, rs2465609398, rs2465552438, rs2465540859, rs2465534557, rs2465562056, rs2465560526, rs1362905226, rs2465505786, rs2465560474, rs1574602991, rs2465591521, rs776363711, rs2465508625, rs2465557045, rs2465595745, rs2465541119, rs2465534236, rs2465515802, rs2465595874, rs2465505815, rs2465540902, rs2465605084, rs1057516350, rs1057517132, rs1057517397, rs747985669, rs1057516217, rs1057516991, rs1057516734, rs1057516461, rs1057516233, rs1057517087, rs1057516460, rs1057516556, rs1057517282, rs1057516417, rs1057516326, rs1057517430, rs1243779049, rs772683361, rs868816467, rs1553316142, rs1553312033, rs1553311647, rs1553311706, rs1553314024, rs1458898996, rs1237270916, rs142120825, rs1553311804, rs752005568, rs774235292, rs1553316176, rs1553311716, rs764557236, rs1290945516, rs1553314070, rs1300516636, rs1553311645, rs1553312058, rs1553314023, rs1298883200, rs1456890163, rs1267615713, rs1574623071, rs1574603062, rs1278248464, rs1670591013, rs1669581856, rs1204190984, rs1670051013, rs1670587668, rs1669632177, rs1669918554, rs1670128490, rs1670172561, rs1670172615, rs1670587952, rs1670589674, rs11552518, rs1670693281, rs1460602961, rs1670695099, rs1670695733, rs1227493628, rs147103714	RCV001376804 RCV001381333 RCV001388915 RCV001381901 RCV001386605 RCV001384190 RCV002564226 RCV001986600 RCV001905867 RCV001999742 RCV001886668 RCV001900399 RCV001970156 RCV001994618 RCV002007557 RCV002007564 RCV001995606 RCV001964565 RCV001970069 RCV001963175 RCV001891160 RCV001909545 RCV001914021 RCV001955233 RCV001986407 RCV001983859 RCV002271790 RCV002302449 RCV002306518 RCV002308134 RCV002309070 RCV002309158 RCV002309184 RCV002309196 RCV002309393 RCV002309403 RCV002307210 RCV002307260 RCV000169495 RCV000169001 RCV000169337 RCV000169366 RCV000169517 RCV000173656 RCV002614944 RCV002591939 RCV000175394 RCV000178729 RCV002600832 RCV002593244 RCV002513955 RCV002755980 RCV002791166 RCV002806571 RCV002857236 RCV002853228 RCV002866947 RCV002913856 RCV002894455 RCV002909387 RCV003033678 RCV003027360 RCV003045674 RCV003025347 RCV003058107 RCV000174836 RCV000665238 RCV000665265 RCV000763079 RCV000820848 RCV003466842 RCV000984273 RCV000589800 RCV003230889 RCV003468322 RCV003468310 RCV003468311 RCV003461717 RCV003468313 RCV003461718 RCV003461719 RCV003461720 RCV003468314 RCV003468315 RCV003461721 RCV003468316 RCV003468317 RCV003468318 RCV003468319 RCV003461722 RCV003468320 RCV003468321 RCV003785585 RCV003785618 RCV003782987 RCV003779470 RCV003784463 RCV003786900 RCV003798251 RCV003798340 RCV003792504 RCV003806760 RCV003791295 RCV003805568 RCV003805620 RCV003804243 RCV003804360 RCV003798553 RCV003790722 RCV003803375 RCV003794821 RCV003813456 RCV003809436 RCV003809620 RCV003807529 RCV003807678 RCV004576706 RCV004576708 RCV004576709 RCV004576710 RCV004576711 RCV004576712 RCV004576713 RCV004594964 RCV000409142 RCV000410253 RCV000409331 RCV000411664 RCV000410623 RCV000410644 RCV000410451 RCV000410271 RCV000411941 RCV000412311 RCV000412154 RCV000409333 RCV000411006 RCV000410550 RCV000411851 RCV000410119 RCV001851488 RCV000586670 RCV000590233 RCV003465349 RCV000675017 RCV000670635 RCV000668070 RCV000669931 RCV000665108 RCV000670063 RCV000668465 RCV000667840 RCV000666585 RCV000671032 RCV000666665 RCV000667698 RCV000673253 RCV000674517 RCV000667650 RCV000674355 RCV000672726 RCV000669417 RCV000665156 RCV000673029 RCV000668077 RCV000703162 RCV000807451 RCV000791673 RCV000850071 RCV001869339 RCV001048765 RCV001036954 RCV001051817 RCV001220239 RCV001225156 RCV001214687 RCV001264365 RCV001263583 RCV001263584 RCV001263585 RCV001263586 RCV001263587 RCV001263588 RCV001263589 RCV001263590 RCV001263874 RCV001263875 RCV001263876 RCV001264462 RCV001854375	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Metabolic disease	Likely pathogenic; Pathogenic	rs137852769	RCV005621874	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Mitochondrial trifunctional protein deficiency	Likely pathogenic; Pathogenic	rs771028541, rs757671025, rs137852769, rs754145990, rs2147759662, rs2147784383, rs2147762308, rs2147748812, rs2147753069, rs2147753555, rs2147769993, rs2147781182, rs2147753741, rs780350631, rs2147749450, rs2147753630, rs2147766716, rs774114061, rs2147762267, rs1478391725, rs1322871046, rs1670695370, rs2147768516, rs1670773680, rs1558315590, rs2147762411, rs2465508542, rs2465534615, rs2465595773, rs2465517691, rs2465605117, rs1669575714, rs1016253580, rs2465561815, rs1303177735, rs2465508731, rs749848370, rs779113356, rs769580842, rs786204607, rs781205883, rs200017313, rs934411514, rs2465505035, rs794727219, rs2465508716, rs1445488113, rs796051971, rs1167218743, rs2465609001, rs2465504793, rs1669507506, rs2465534647, rs2465605243, rs762700531, rs779640035, rs868693884, rs2465504803, rs771622695, rs2465596090, rs2465608988, rs1669916953, rs137852770, rs786205088, rs781222705, rs137852771, rs1574600309, rs137852772, rs137852774, rs137852775, rs2465513035, rs2465517597, rs1297938234, rs1183351612, rs2465534201, rs2465595752, rs2465560313, rs2465506111, rs2465508638, rs2465560282, rs2465540650, rs2465534617, rs2465506002, rs2465556878, rs2465609398, rs2465552438, rs2465540859, rs2465534557, rs2465562056, rs2465560526, rs1362905226, rs2465505786, rs2465560474, rs1574602991, rs2465591521, rs776363711, rs2465508625, rs2465557045, rs1057517397, rs747985669, rs1057516217, rs1057516991, rs1057516461, rs1057516460, rs1057516417, rs1057516326, rs1243779049, rs772683361, rs868816467, rs1458898996, rs774235292, rs1553316176, rs764557236, rs1290945516, rs1553312058, rs1298883200, rs1456890163, rs1267615713, rs1574623071, rs1574603062, rs1574624062, rs1278248464, rs1670591013, rs1669581856, rs1204190984, rs1670051013, rs1670587668, rs1669501514, rs1669632177, rs1669918554, rs1670128490, rs1670172561, rs1670172615, rs1670587952, rs1670589674, rs11552518, rs1670693281, rs1460602961, rs1670695099, rs1670695733, rs1227493628, rs147103714	RCV001376804 RCV001381333 RCV001388915 RCV001381901 RCV001386605 RCV001384190 RCV002564226 RCV001986600 RCV001905867 RCV001999742 RCV001886668 RCV001900399 RCV001970156 RCV001994618 RCV002007557 RCV002007564 RCV001995606 RCV001964565 RCV001970069 RCV001963175 RCV001891160 RCV001909545 RCV001914021 RCV001955233 RCV001986407 RCV001983859 RCV002306518 RCV002308134 RCV002309070 RCV002309158 RCV002309184 RCV002309196 RCV002309393 RCV002309403 RCV002307210 RCV002307260 RCV001193146 RCV001239627 RCV001041924 RCV002515195 RCV001058997 RCV001232732 RCV002614944 RCV002591939 RCV003765087 RCV002600832 RCV002593244 RCV002513955 RCV002755980 RCV002791166 RCV002806571 RCV002857236 RCV002853228 RCV002866947 RCV002913856 RCV002894455 RCV002909387 RCV003033678 RCV003027360 RCV003045674 RCV003025347 RCV003058107 RCV000009266 RCV000009268 RCV000009269 RCV000763079 RCV000009271 RCV000009272 RCV000009273 RCV000803503 RCV000819036 RCV003779840 RCV003779039 RCV003779040 RCV003779041 RCV003785585 RCV003785618 RCV003782987 RCV003779470 RCV003784463 RCV003786900 RCV003798251 RCV003798340 RCV003792504 RCV003806760 RCV003791295 RCV003805568 RCV003805620 RCV003804243 RCV003804360 RCV003798553 RCV003790722 RCV003803375 RCV003794821 RCV003813456 RCV003809436 RCV003809620 RCV003807529 RCV003807678 RCV001234387 RCV002272218 RCV003766119 RCV003766132 RCV003766122 RCV000824160 RCV000824013 RCV005213271 RCV001169966 RCV001382533 RCV001860122 RCV000702654 RCV001382534 RCV003767950 RCV001855485 RCV002531352 RCV001203693 RCV001041890 RCV003767960 RCV000703162 RCV000807451 RCV000791673 RCV000850071 RCV000986600 RCV001007477 RCV001048765 RCV001036954 RCV001051817 RCV001220239 RCV001225156 RCV001214687 RCV001256193 RCV001264365 RCV001263583 RCV001263584 RCV001263585 RCV001263586 RCV001263587 RCV001263588 RCV001263589 RCV001263590 RCV001263874 RCV001263875 RCV001263876 RCV002499454 RCV000177003	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Mitochondrial trifunctional protein deficiency 1	Likely pathogenic; Pathogenic	rs771028541, rs2147781182, rs769580842, rs786204607, rs200017313, rs1445488113, rs796051971, rs1167218743, rs868693884, rs137852769, rs786205088, rs781222705, rs137852771, rs137852774, rs137852775, rs2465513035, rs1448524929, rs776363711, rs1553316142, rs1553316176, rs764557236, rs1553312058, rs1204190984, rs147103714	RCV006443836 RCV005023344 RCV004554742 RCV004567367 RCV005003525 RCV005025875 RCV005016529 RCV005027944 RCV005028020 RCV005003469 RCV004566702 RCV004566703 RCV004566704 RCV004566706 RCV004566707 RCV005029947 RCV005030041 RCV005030274 RCV005027718 RCV005027791 RCV005027828 RCV005027776 RCV005021523 RCV005025130	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Nonpapillary renal cell carcinoma	Pathogenic	rs1458898996	RCV005901476	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Squamous cell carcinoma of the head and neck	Likely pathogenic	rs1553314070	RCV005901509	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Thyroid cancer, nonmedullary, 1	Likely pathogenic; Pathogenic	rs2147762411, rs2465562056, rs1458898996	RCV005925511 RCV005934936 RCV005901477	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FATTY LIVER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FATTY LIVER, ALCOHOLIC	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOCARDIAL ISCHEMIA	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TRIFUNCTIONAL PROTEIN DEFICIENCY WITH MYOPATHY AND NEUROPATHY	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Abetalipoproteinemia	Abetalipoproteinemia	BEFREE	15845636, 26109258, 29519241, 30682426, 31730477		★☆☆☆☆ Found in Text Mining only
Acute fatty liver of pregnancy	Fatty Liver	BEFREE	10331463, 15845636, 15857179, 20363656, 7846063, 8931405		★☆☆☆☆ Found in Text Mining only
Acute fatty liver of pregnancy	Fatty Liver	ORPHANET_DG	28515471		★☆☆☆☆ Found in Text Mining only
Acute fatty liver of pregnancy	Fatty Liver	Orphanet			★☆☆☆☆ Found in Text Mining only
Adrenogenital Syndrome	Adrenogenital Syndrome	BEFREE	31028847		★☆☆☆☆ Found in Text Mining only
alpha 1-Antitrypsin Deficiency	Alpha 1-Antitrypsin Deficiency	BEFREE	31028847		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	29500423		★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	32033570, 35286894	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	24115277		★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	26715271	Inhibit	★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	BEFREE	15845636, 27995076, 29519241		★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	LHGDN	18485779		★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Hypertrophic	Hypertrophic cardiomyopathy	Pubtator	33887580	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Dilated	Cardiomyopathy	BEFREE	19083141		★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Dilated	Cardiomyopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular disease	Pubtator	39644572	Inhibit	★☆☆☆☆ Found in Text Mining only
Carnitine palmitoyl transferase 2 deficiency	Carnitine palmitoyl transferase deficiency	BEFREE	16297647		★☆☆☆☆ Found in Text Mining only
Carnitine-Acylcarnitine Translocase Deficiency	Carnitine-Acylcarnitine Translocase Deficiency	BEFREE	16297647		★☆☆☆☆ Found in Text Mining only
Cholestasis	Cholestasis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cholestatic liver disease	Cholestatic liver disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Chondrodysplasia Punctata Rhizomelic	Chondrodysplasia	Pubtator	1347505	Associate	★☆☆☆☆ Found in Text Mining only
Chorioretinal atrophy	Chorioretinal atrophy	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
Congenital Abnormalities	Congenital abnormalities	Pubtator	29459657	Associate	★☆☆☆☆ Found in Text Mining only
Congenital adrenal hyperplasia	Congenital adrenal hyperplasia	BEFREE	31028847		★☆☆☆☆ Found in Text Mining only
Congenital clubfoot	Congenital Clubfoot	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	19001357		★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cytochrome-c Oxidase Deficiency	Cytochrome-C Oxidase Deficiency	BEFREE	31028847		★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	CTD_human_DG	18784066		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	29713962		★☆☆☆☆ 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
Dyslipidemias	Dyslipidemias	Pubtator	27871288	Associate	★☆☆☆☆ Found in Text Mining only
Dyslipidemias	Dyslipidemias	BEFREE	30879905		★☆☆☆☆ Found in Text Mining only
Exotropia	Exotropia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Fatty Liver	Fatty Liver	BEFREE	10352164		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glycogen Storage Disease	Glycogen Storage Disease	BEFREE	30084679		★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	19001357		★☆☆☆☆ Found in Text Mining only
HELLP Syndrome	HELLP Syndrome	BEFREE	10331463, 10926288, 17313315		★☆☆☆☆ Found in Text Mining only
Hydrops Fetalis	Hydrops Fetalis	BEFREE	15845636		★☆☆☆☆ Found in Text Mining only
Hydrops Fetalis	Hydrops Fetalis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypoglycemia	Hypoglycemia	BEFREE	10352164, 15845636, 31370002, 7846063		★☆☆☆☆ Found in Text Mining only
Hypoglycemia	Hypoglycemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypoparathyroidism	Hypoparathyroidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Inborn Errors of Metabolism	Inborn Errors Of Metabolism	BEFREE	27995076		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	28153718		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ischemic stroke	Ischemic Stroke	BEFREE	30327638		★☆☆☆☆ Found in Text Mining only
Left Ventricular Hypertrophy	Left Ventricular Hypertrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Liver Diseases	Liver disease	Pubtator	39840890	Associate	★☆☆☆☆ Found in Text Mining only
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency	Long Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency	CLINVAR_DG	10234607, 10352164, 10518281, 11855930, 12237653, 12442268, 12971428, 14630990, 14694500, 15902556, 19852779, 20583174, 20659813, 21103935, 21549624, 22459206, 23430857, 23798014, 23868323, 25525159, 26024122, 26109258, 27491397, 29268767, 29519241, 7738175, 7811722, 7846063, 8770876, 8865274, 9739053		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency	Long Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency	BEFREE	10331463, 17313315, 20363656, 20814823, 22459206, 29095929, 30084679, 31028847, 7846063, 8931405		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency	Long Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency	CLINGEN_DG	10518281, 11390422, 21103935, 7811722, 8770876, 9739053		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency	Long Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency	GENOMICS_ENGLAND_DG	10518281, 11111210, 7811722		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency	Long Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency	UNIPROT_DG	7811722, 7846063, 9266371		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency	Long Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency	Long Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Lung Neoplasms	Lung neoplasms	Pubtator	22471497	Associate	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	BEFREE	24115277		★☆☆☆☆ Found in Text Mining only
Lymphohistiocytosis, Hemophagocytic	Lymphohistiocytosis	BEFREE	27769081		★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	Pubtator	31527828	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	24747176		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	24115277		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	27689401, 28108419		★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic Diseases	BEFREE	18162058		★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic syndrome	Pubtator	29095929	Associate	★☆☆☆☆ Found in Text Mining only
Mitochondrial trifunctional protein deficiency	Mitochondrial trifunctional protein deficiency	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Multiple congenital anomalies	Multiple Congenital Anomalies	CLINVAR_DG	11773547, 12838198, 26676313, 27117294		★☆☆☆☆ Found in Text Mining only
Myocardial Ischemia	Myocardial Ischemia	CTD_human_DG	16214533		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myopathy	Myopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	24115277, 24747176, 27689401, 31603456		★☆☆☆☆ Found in Text Mining only
Nyctalopia	Nyctalopia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	28552586		★☆☆☆☆ Found in Text Mining only
Osteoarthrosis Deformans	Osteoarthrosis Deformans	CTD_human_DG	18784066		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	34168259	Associate	★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Nervous System Diseases	BEFREE	15845636		★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Nervous System Diseases	HPO_DG			★☆☆☆☆ Found in Text Mining only
Peripheral Neuropathy	Peripheral Neuropathy	BEFREE	15845636		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	27689401, 28108419		★☆☆☆☆ Found in Text Mining only
prostatitis	Prostatitis	BEFREE	31271729		★☆☆☆☆ Found in Text Mining only
Respiratory Distress Syndrome, Adult	Respiratory Distress Syndrome	BEFREE	14605499		★☆☆☆☆ Found in Text Mining only
Respiratory Failure	Respiratory Failure	HPO_DG			★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal Diseases	HPO_DG			★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis Pigmentosa	BEFREE	31028847		★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis Pigmentosa	HPO_DG			★☆☆☆☆ Found in Text Mining only
Rhabdomyolysis	Rhabdomyolysis	Pubtator	32978841	Associate	★☆☆☆☆ Found in Text Mining only
Sensorimotor neuropathy	Sensorimotor neuropathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Small Cell Lung Carcinoma	Small cell lung carcinoma	Pubtator	22471497	Stimulate	★☆☆☆☆ Found in Text Mining only
Staphyloma posticum	Staphyloma posticum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	BEFREE	10352164		★☆☆☆☆ Found in Text Mining only
Transient hyperphenylalaninemia	Transient hyperphenylalaninemia	BEFREE	21103935		★☆☆☆☆ 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	BEFREE	10331463, 14605499, 15902556, 16297647, 17143551, 17313315, 20363656, 20814823, 21549624, 22459206, 27995076, 29095929, 29956646, 31028847, 7846063, 8931405		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Trifunctional Protein Deficiency With Myopathy And Neuropathy	Mitochondrial trifunctional protein deficiency	CLINVAR_DG	10352164, 11855930, 12442268, 12809642, 12971428, 14630990, 15902556, 19433283, 20583174, 21103935, 21549624, 22065858, 22459206, 23868323, 26109258, 27491397, 7738175, 7811722, 8770876, 8865274		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Trifunctional Protein Deficiency With Myopathy And Neuropathy	Trifunctional protein deficiency	Pubtator	17043408, 26109258, 29095929, 29459657, 34878152, 39283617, 7738175, 7846063, 8770876	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Trifunctional Protein Deficiency With Myopathy And Neuropathy	Trifunctional protein deficiency	Pubtator	1830138, 7846063	Inhibit	★★☆☆☆ 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	Trifunctional protein deficiency	Pubtator	35383965	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Trifunctional Protein Deficiency With Myopathy And Neuropathy	Mitochondrial trifunctional protein deficiency	UNIPROT_DG	9739053		★★☆☆☆ 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 With Myopathy And Neuropathy	Mitochondrial trifunctional protein deficiency	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Trifunctional Protein Deficiency, Type 2	Trifunctional Protein Deficiency	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
von Willebrand Disease, Type 2N	Von Willebrand Disorder	BEFREE	31028847		★☆☆☆☆ Found in Text Mining only
Wilms Tumor	Wilms tumor	Pubtator	34850779	Inhibit	★☆☆☆☆ Found in Text Mining only