Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs Other IDs Associated diseases
Entrez ID	2182
Gene name	Acyl-CoA synthetase long chain family member 4
Gene symbol	ACSL4
Synonyms (NCBI Gene)	ACS4FACL4LACS4MRX63MRX68XLID63
Chromosome	X
Chromosome location	Xq23
Summary	The protein encoded by this gene is an isozyme of the long-chain fatty-acid-coenzyme A ligase family. Although differing in substrate specificity, subcellular localization, and tissue distribution, all isozymes of this family convert free long-chain fatty

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SNP ID	Visualize variation	Clinical significance	Consequence
rs122458138	G>T	Pathogenic	Coding sequence variant, missense variant
rs122458139	G>A	Pathogenic	Coding sequence variant, missense variant
rs183171123	T>C	Conflicting-interpretations-of-pathogenicity, benign	Intron variant
rs200451158	T>C	Conflicting-interpretations-of-pathogenicity, likely-benign	Missense variant, coding sequence variant
rs886042180	AT>-	Pathogenic	Frameshift variant, coding sequence variant
rs1569423317	T>C	Pathogenic	Splice acceptor variant
rs1603401125	A>C	Likely-pathogenic	Coding sequence variant, missense variant

520

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miRTarBase ID	miRNA	Experiments	Reference
MIRT020060	hsa-miR-375	Microarray	20215506
MIRT025215	hsa-miR-34a-5p	Proteomics	21566225
MIRT025215	hsa-miR-34a-5p	Proteomics	21566225
MIRT025215	hsa-miR-34a-5p	Proteomics	21566225
MIRT025215	hsa-miR-34a-5p	Reporter assay;Proteomics	21566225
MIRT028658	hsa-miR-30a-5p	Proteomics	18668040
MIRT043925	hsa-miR-378a-3p	CLASH	23622248
MIRT054569	hsa-miR-205-5p	Luciferase reporter assayqRT-PCRWestern blot	24576478
MIRT054569	hsa-miR-205-5p	Luciferase reporter assayqRT-PCRWestern blot	24576478
MIRT549467	hsa-miR-144-3p	HITS-CLIP	21572407
MIRT549466	hsa-miR-19a-3p	HITS-CLIP	21572407
MIRT549465	hsa-miR-19b-3p	HITS-CLIP	21572407
MIRT549464	hsa-miR-3666	HITS-CLIP	21572407
MIRT549463	hsa-miR-454-3p	HITS-CLIP	21572407
MIRT549462	hsa-miR-301a-3p	HITS-CLIP	21572407
MIRT549461	hsa-miR-4295	HITS-CLIP	21572407
MIRT549460	hsa-miR-130a-3p	HITS-CLIP	21572407
MIRT549459	hsa-miR-130b-3p	HITS-CLIP	21572407
MIRT549458	hsa-miR-301b-3p	HITS-CLIP	21572407
MIRT175384	hsa-miR-106b-5p	HITS-CLIP	21572407
MIRT175396	hsa-miR-20b-5p	HITS-CLIP	21572407
MIRT175406	hsa-miR-519d-3p	HITS-CLIP	21572407
MIRT175402	hsa-miR-526b-3p	HITS-CLIP	21572407
MIRT175380	hsa-miR-93-5p	HITS-CLIP	21572407
MIRT175378	hsa-miR-17-5p	HITS-CLIP	21572407
MIRT175379	hsa-miR-20a-5p	HITS-CLIP	21572407
MIRT175381	hsa-miR-106a-5p	HITS-CLIP	21572407
MIRT175442	hsa-miR-548az-5p	HITS-CLIP	21572407
MIRT175420	hsa-miR-548t-5p	HITS-CLIP	21572407
MIRT549457	hsa-miR-3662	HITS-CLIP	21572407
MIRT549455	hsa-miR-132-3p	HITS-CLIP	21572407
MIRT549454	hsa-miR-212-3p	HITS-CLIP	21572407
MIRT549453	hsa-miR-6507-5p	HITS-CLIP	21572407
MIRT175408	hsa-miR-519a-3p	HITS-CLIP	21572407
MIRT175403	hsa-miR-519b-3p	HITS-CLIP	21572407
MIRT175400	hsa-miR-519c-3p	HITS-CLIP	21572407
MIRT549452	hsa-miR-580-5p	HITS-CLIP	21572407
MIRT549451	hsa-miR-8485	HITS-CLIP	21572407
MIRT175300	hsa-miR-4789-3p	HITS-CLIP	21572407
MIRT549450	hsa-miR-3163	HITS-CLIP	21572407
MIRT549449	hsa-miR-410-3p	HITS-CLIP	21572407
MIRT124873	hsa-miR-5011-5p	HITS-CLIP	21572407
MIRT549448	hsa-miR-586	HITS-CLIP	21572407
MIRT549447	hsa-miR-16-1-3p	HITS-CLIP	21572407
MIRT549446	hsa-miR-3653-3p	HITS-CLIP	21572407
MIRT124869	hsa-miR-190a-3p	HITS-CLIP	21572407
MIRT175430	hsa-miR-4477a	HITS-CLIP	21572407
MIRT549445	hsa-miR-518a-5p	HITS-CLIP	21572407
MIRT549444	hsa-miR-527	HITS-CLIP	21572407
MIRT175328	hsa-miR-448	HITS-CLIP	21572407
MIRT549443	hsa-miR-33a-5p	HITS-CLIP	21572407
MIRT549442	hsa-miR-33b-5p	HITS-CLIP	21572407
MIRT549441	hsa-miR-3658	HITS-CLIP	21572407
MIRT175287	hsa-miR-450b-5p	HITS-CLIP	21572407
MIRT108449	hsa-miR-507	HITS-CLIP	21572407
MIRT108450	hsa-miR-557	HITS-CLIP	21572407
MIRT549440	hsa-miR-3680-3p	HITS-CLIP	21572407
MIRT108438	hsa-miR-129-5p	HITS-CLIP	21572407
MIRT549451	hsa-miR-8485	HITS-CLIP	23824327
MIRT175300	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT124873	hsa-miR-5011-5p	HITS-CLIP	23824327
MIRT549448	hsa-miR-586	HITS-CLIP	23824327
MIRT124869	hsa-miR-190a-3p	HITS-CLIP	23824327
MIRT175328	hsa-miR-448	HITS-CLIP	23824327
MIRT549467	hsa-miR-144-3p	PAR-CLIP	21572407
MIRT549466	hsa-miR-19a-3p	PAR-CLIP	21572407
MIRT549465	hsa-miR-19b-3p	PAR-CLIP	21572407
MIRT549464	hsa-miR-3666	PAR-CLIP	21572407
MIRT549463	hsa-miR-454-3p	PAR-CLIP	21572407
MIRT549462	hsa-miR-301a-3p	PAR-CLIP	21572407
MIRT549461	hsa-miR-4295	PAR-CLIP	21572407
MIRT549460	hsa-miR-130a-3p	PAR-CLIP	21572407
MIRT549459	hsa-miR-130b-3p	PAR-CLIP	21572407
MIRT549458	hsa-miR-301b-3p	PAR-CLIP	21572407
MIRT175384	hsa-miR-106b-5p	PAR-CLIP	21572407
MIRT175396	hsa-miR-20b-5p	PAR-CLIP	21572407
MIRT175406	hsa-miR-519d-3p	PAR-CLIP	21572407
MIRT175402	hsa-miR-526b-3p	PAR-CLIP	21572407
MIRT175380	hsa-miR-93-5p	PAR-CLIP	21572407
MIRT175378	hsa-miR-17-5p	PAR-CLIP	21572407
MIRT175379	hsa-miR-20a-5p	PAR-CLIP	21572407
MIRT175381	hsa-miR-106a-5p	PAR-CLIP	21572407
MIRT175442	hsa-miR-548az-5p	PAR-CLIP	21572407
MIRT175420	hsa-miR-548t-5p	PAR-CLIP	21572407
MIRT549457	hsa-miR-3662	PAR-CLIP	21572407
MIRT549456	hsa-miR-186-5p	PAR-CLIP	21572407
MIRT549455	hsa-miR-132-3p	PAR-CLIP	21572407
MIRT549454	hsa-miR-212-3p	PAR-CLIP	21572407
MIRT549453	hsa-miR-6507-5p	PAR-CLIP	21572407
MIRT175408	hsa-miR-519a-3p	PAR-CLIP	21572407
MIRT175403	hsa-miR-519b-3p	PAR-CLIP	21572407
MIRT175400	hsa-miR-519c-3p	PAR-CLIP	21572407
MIRT549452	hsa-miR-580-5p	PAR-CLIP	21572407
MIRT549451	hsa-miR-8485	PAR-CLIP	21572407
MIRT175300	hsa-miR-4789-3p	PAR-CLIP	21572407
MIRT549450	hsa-miR-3163	PAR-CLIP	21572407
MIRT549449	hsa-miR-410-3p	PAR-CLIP	21572407
MIRT124873	hsa-miR-5011-5p	PAR-CLIP	21572407
MIRT549448	hsa-miR-586	PAR-CLIP	21572407
MIRT549447	hsa-miR-16-1-3p	PAR-CLIP	21572407
MIRT549446	hsa-miR-3653-3p	PAR-CLIP	21572407
MIRT124869	hsa-miR-190a-3p	PAR-CLIP	21572407
MIRT175430	hsa-miR-4477a	PAR-CLIP	21572407
MIRT549445	hsa-miR-518a-5p	PAR-CLIP	21572407
MIRT549444	hsa-miR-527	PAR-CLIP	21572407
MIRT175328	hsa-miR-448	PAR-CLIP	21572407
MIRT549443	hsa-miR-33a-5p	PAR-CLIP	21572407
MIRT549442	hsa-miR-33b-5p	PAR-CLIP	21572407
MIRT549441	hsa-miR-3658	PAR-CLIP	21572407
MIRT175287	hsa-miR-450b-5p	PAR-CLIP	21572407
MIRT108449	hsa-miR-507	PAR-CLIP	21572407
MIRT108450	hsa-miR-557	PAR-CLIP	21572407
MIRT549440	hsa-miR-3680-3p	PAR-CLIP	21572407
MIRT108438	hsa-miR-129-5p	PAR-CLIP	21572407
MIRT175377	hsa-miR-8084	PAR-CLIP	22100165
MIRT108446	hsa-miR-200b-3p	PAR-CLIP	22100165
MIRT108447	hsa-miR-200c-3p	PAR-CLIP	22100165
MIRT108448	hsa-miR-429	PAR-CLIP	22100165
MIRT444495	hsa-miR-369-3p	PAR-CLIP	22100165
MIRT444494	hsa-miR-5692b	PAR-CLIP	22100165
MIRT444493	hsa-miR-5692c	PAR-CLIP	22100165
MIRT444492	hsa-miR-374a-5p	PAR-CLIP	22100165
MIRT444491	hsa-miR-374b-5p	PAR-CLIP	22100165
MIRT444489	hsa-miR-578	PAR-CLIP	22100165
MIRT175377	hsa-miR-8084	PAR-CLIP	22100165
MIRT108446	hsa-miR-200b-3p	PAR-CLIP	22100165
MIRT108447	hsa-miR-200c-3p	PAR-CLIP	22100165
MIRT108448	hsa-miR-429	PAR-CLIP	22100165
MIRT444495	hsa-miR-369-3p	PAR-CLIP	22100165
MIRT444494	hsa-miR-5692b	PAR-CLIP	22100165
MIRT444493	hsa-miR-5692c	PAR-CLIP	22100165
MIRT444492	hsa-miR-374a-5p	PAR-CLIP	22100165
MIRT444491	hsa-miR-374b-5p	PAR-CLIP	22100165
MIRT444490	hsa-miR-1298-5p	PAR-CLIP	22100165
MIRT444489	hsa-miR-578	PAR-CLIP	22100165
MIRT441286	ebv-miR-BART10-3p	HITS-CLIP	22473208
MIRT441285	hsa-miR-142-3p	HITS-CLIP	22473208
MIRT441286	ebv-miR-BART10-3p	HITS-CLIP	22473208
MIRT441285	hsa-miR-142-3p	HITS-CLIP	22473208
MIRT549466	hsa-miR-19a-3p	HITS-CLIP	22473208
MIRT549465	hsa-miR-19b-3p	HITS-CLIP	22473208
MIRT737243	hsa-miR-211-5p	Luciferase reporter assayWestern blottingRNA-seqqRT-PCR	32859232
MIRT549467	hsa-miR-144-3p	HITS-CLIP	21572407
MIRT549466	hsa-miR-19a-3p	HITS-CLIP	21572407
MIRT549465	hsa-miR-19b-3p	HITS-CLIP	21572407
MIRT549464	hsa-miR-3666	HITS-CLIP	21572407
MIRT549463	hsa-miR-454-3p	HITS-CLIP	21572407
MIRT549462	hsa-miR-301a-3p	HITS-CLIP	21572407
MIRT549461	hsa-miR-4295	HITS-CLIP	21572407
MIRT549460	hsa-miR-130a-3p	HITS-CLIP	21572407
MIRT549459	hsa-miR-130b-3p	HITS-CLIP	21572407
MIRT549458	hsa-miR-301b-3p	HITS-CLIP	21572407
MIRT175384	hsa-miR-106b-5p	HITS-CLIP	21572407
MIRT175396	hsa-miR-20b-5p	HITS-CLIP	21572407
MIRT175406	hsa-miR-519d-3p	HITS-CLIP	21572407
MIRT175402	hsa-miR-526b-3p	HITS-CLIP	21572407
MIRT175380	hsa-miR-93-5p	HITS-CLIP	21572407
MIRT175378	hsa-miR-17-5p	HITS-CLIP	21572407
MIRT175379	hsa-miR-20a-5p	HITS-CLIP	21572407
MIRT175381	hsa-miR-106a-5p	HITS-CLIP	21572407
MIRT175442	hsa-miR-548az-5p	HITS-CLIP	21572407
MIRT175420	hsa-miR-548t-5p	HITS-CLIP	21572407
MIRT549457	hsa-miR-3662	HITS-CLIP	21572407
MIRT549455	hsa-miR-132-3p	HITS-CLIP	21572407
MIRT549454	hsa-miR-212-3p	HITS-CLIP	21572407
MIRT549453	hsa-miR-6507-5p	HITS-CLIP	21572407
MIRT175408	hsa-miR-519a-3p	HITS-CLIP	21572407
MIRT175403	hsa-miR-519b-3p	HITS-CLIP	21572407
MIRT175400	hsa-miR-519c-3p	HITS-CLIP	21572407
MIRT549452	hsa-miR-580-5p	HITS-CLIP	21572407
MIRT549451	hsa-miR-8485	HITS-CLIP	21572407
MIRT175300	hsa-miR-4789-3p	HITS-CLIP	21572407
MIRT549450	hsa-miR-3163	HITS-CLIP	21572407
MIRT549449	hsa-miR-410-3p	HITS-CLIP	21572407
MIRT124873	hsa-miR-5011-5p	HITS-CLIP	21572407
MIRT549448	hsa-miR-586	HITS-CLIP	21572407
MIRT549447	hsa-miR-16-1-3p	HITS-CLIP	21572407
MIRT549446	hsa-miR-3653-3p	HITS-CLIP	21572407
MIRT124869	hsa-miR-190a-3p	HITS-CLIP	21572407
MIRT175430	hsa-miR-4477a	HITS-CLIP	21572407
MIRT549445	hsa-miR-518a-5p	HITS-CLIP	21572407
MIRT549444	hsa-miR-527	HITS-CLIP	21572407
MIRT175328	hsa-miR-448	HITS-CLIP	21572407
MIRT549443	hsa-miR-33a-5p	HITS-CLIP	21572407
MIRT549442	hsa-miR-33b-5p	HITS-CLIP	21572407
MIRT549441	hsa-miR-3658	HITS-CLIP	21572407
MIRT175287	hsa-miR-450b-5p	HITS-CLIP	21572407
MIRT108449	hsa-miR-507	HITS-CLIP	21572407
MIRT108450	hsa-miR-557	HITS-CLIP	21572407
MIRT549440	hsa-miR-3680-3p	HITS-CLIP	21572407
MIRT108438	hsa-miR-129-5p	HITS-CLIP	21572407
MIRT549451	hsa-miR-8485	HITS-CLIP	23824327
MIRT175300	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT124873	hsa-miR-5011-5p	HITS-CLIP	23824327
MIRT549448	hsa-miR-586	HITS-CLIP	23824327
MIRT124869	hsa-miR-190a-3p	HITS-CLIP	23824327
MIRT175328	hsa-miR-448	HITS-CLIP	23824327
MIRT549467	hsa-miR-144-3p	PAR-CLIP	21572407
MIRT549466	hsa-miR-19a-3p	PAR-CLIP	21572407
MIRT549465	hsa-miR-19b-3p	PAR-CLIP	21572407
MIRT549464	hsa-miR-3666	PAR-CLIP	21572407
MIRT549463	hsa-miR-454-3p	PAR-CLIP	21572407
MIRT549462	hsa-miR-301a-3p	PAR-CLIP	21572407
MIRT549461	hsa-miR-4295	PAR-CLIP	21572407
MIRT549460	hsa-miR-130a-3p	PAR-CLIP	21572407
MIRT549459	hsa-miR-130b-3p	PAR-CLIP	21572407
MIRT549458	hsa-miR-301b-3p	PAR-CLIP	21572407
MIRT175384	hsa-miR-106b-5p	PAR-CLIP	21572407
MIRT175396	hsa-miR-20b-5p	PAR-CLIP	21572407
MIRT175406	hsa-miR-519d-3p	PAR-CLIP	21572407
MIRT175402	hsa-miR-526b-3p	PAR-CLIP	21572407
MIRT175380	hsa-miR-93-5p	PAR-CLIP	21572407
MIRT175378	hsa-miR-17-5p	PAR-CLIP	21572407
MIRT175379	hsa-miR-20a-5p	PAR-CLIP	21572407
MIRT175381	hsa-miR-106a-5p	PAR-CLIP	21572407
MIRT175442	hsa-miR-548az-5p	PAR-CLIP	21572407
MIRT175420	hsa-miR-548t-5p	PAR-CLIP	21572407
MIRT549457	hsa-miR-3662	PAR-CLIP	21572407
MIRT549456	hsa-miR-186-5p	PAR-CLIP	21572407
MIRT549455	hsa-miR-132-3p	PAR-CLIP	21572407
MIRT549454	hsa-miR-212-3p	PAR-CLIP	21572407
MIRT549453	hsa-miR-6507-5p	PAR-CLIP	21572407
MIRT175408	hsa-miR-519a-3p	PAR-CLIP	21572407
MIRT175403	hsa-miR-519b-3p	PAR-CLIP	21572407
MIRT175400	hsa-miR-519c-3p	PAR-CLIP	21572407
MIRT549452	hsa-miR-580-5p	PAR-CLIP	21572407
MIRT549451	hsa-miR-8485	PAR-CLIP	21572407
MIRT175300	hsa-miR-4789-3p	PAR-CLIP	21572407
MIRT549450	hsa-miR-3163	PAR-CLIP	21572407
MIRT549449	hsa-miR-410-3p	PAR-CLIP	21572407
MIRT124873	hsa-miR-5011-5p	PAR-CLIP	21572407
MIRT549448	hsa-miR-586	PAR-CLIP	21572407
MIRT549447	hsa-miR-16-1-3p	PAR-CLIP	21572407
MIRT549446	hsa-miR-3653-3p	PAR-CLIP	21572407
MIRT124869	hsa-miR-190a-3p	PAR-CLIP	21572407
MIRT175430	hsa-miR-4477a	PAR-CLIP	21572407
MIRT549445	hsa-miR-518a-5p	PAR-CLIP	21572407
MIRT549444	hsa-miR-527	PAR-CLIP	21572407
MIRT175328	hsa-miR-448	PAR-CLIP	21572407
MIRT549443	hsa-miR-33a-5p	PAR-CLIP	21572407
MIRT549442	hsa-miR-33b-5p	PAR-CLIP	21572407
MIRT549441	hsa-miR-3658	PAR-CLIP	21572407
MIRT175287	hsa-miR-450b-5p	PAR-CLIP	21572407
MIRT108449	hsa-miR-507	PAR-CLIP	21572407
MIRT108450	hsa-miR-557	PAR-CLIP	21572407
MIRT549440	hsa-miR-3680-3p	PAR-CLIP	21572407
MIRT108438	hsa-miR-129-5p	PAR-CLIP	21572407
MIRT175377	hsa-miR-8084	PAR-CLIP	22100165
MIRT108446	hsa-miR-200b-3p	PAR-CLIP	22100165
MIRT108447	hsa-miR-200c-3p	PAR-CLIP	22100165
MIRT108448	hsa-miR-429	PAR-CLIP	22100165
MIRT444495	hsa-miR-369-3p	PAR-CLIP	22100165
MIRT444494	hsa-miR-5692b	PAR-CLIP	22100165
MIRT444493	hsa-miR-5692c	PAR-CLIP	22100165
MIRT444492	hsa-miR-374a-5p	PAR-CLIP	22100165
MIRT444491	hsa-miR-374b-5p	PAR-CLIP	22100165
MIRT444489	hsa-miR-578	PAR-CLIP	22100165
MIRT175377	hsa-miR-8084	PAR-CLIP	22100165
MIRT108446	hsa-miR-200b-3p	PAR-CLIP	22100165
MIRT108447	hsa-miR-200c-3p	PAR-CLIP	22100165
MIRT108448	hsa-miR-429	PAR-CLIP	22100165
MIRT444495	hsa-miR-369-3p	PAR-CLIP	22100165
MIRT444494	hsa-miR-5692b	PAR-CLIP	22100165
MIRT444493	hsa-miR-5692c	PAR-CLIP	22100165
MIRT444492	hsa-miR-374a-5p	PAR-CLIP	22100165
MIRT444491	hsa-miR-374b-5p	PAR-CLIP	22100165
MIRT444490	hsa-miR-1298-5p	PAR-CLIP	22100165
MIRT444489	hsa-miR-578	PAR-CLIP	22100165
MIRT054569	hsa-miR-205-5p	MicroarrayqRT-PCR	35816043
MIRT763532	hsa-miR-1915	CLIP-seq
MIRT763533	hsa-miR-374a	CLIP-seq
MIRT763534	hsa-miR-374b	CLIP-seq
MIRT763535	hsa-miR-4291	CLIP-seq
MIRT763536	hsa-miR-4310	CLIP-seq
MIRT763537	hsa-miR-4726-3p	CLIP-seq
MIRT763538	hsa-miR-548an	CLIP-seq
MIRT763539	hsa-miR-1207-3p	CLIP-seq
MIRT763540	hsa-miR-1323	CLIP-seq
MIRT763541	hsa-miR-1537	CLIP-seq
MIRT763542	hsa-miR-3687	CLIP-seq
MIRT763543	hsa-miR-410	CLIP-seq
MIRT763544	hsa-miR-4442	CLIP-seq
MIRT763545	hsa-miR-4793-3p	CLIP-seq
MIRT763546	hsa-miR-548a-5p	CLIP-seq
MIRT763547	hsa-miR-548ab	CLIP-seq
MIRT763548	hsa-miR-548ak	CLIP-seq
MIRT763549	hsa-miR-548b-5p	CLIP-seq
MIRT763550	hsa-miR-548c-5p	CLIP-seq
MIRT763551	hsa-miR-548d-5p	CLIP-seq
MIRT763552	hsa-miR-548h	CLIP-seq
MIRT763553	hsa-miR-548i	CLIP-seq
MIRT763554	hsa-miR-548j	CLIP-seq
MIRT763555	hsa-miR-548k	CLIP-seq
MIRT763556	hsa-miR-548l	CLIP-seq
MIRT763557	hsa-miR-548o	CLIP-seq
MIRT763558	hsa-miR-548w	CLIP-seq
MIRT763559	hsa-miR-548y	CLIP-seq
MIRT763560	hsa-miR-559	CLIP-seq
MIRT763561	hsa-miR-590-3p	CLIP-seq
MIRT1922545	hsa-miR-1275	CLIP-seq
MIRT1922546	hsa-miR-19a	CLIP-seq
MIRT1922547	hsa-miR-19b	CLIP-seq
MIRT1922548	hsa-miR-3200-5p	CLIP-seq
MIRT1922549	hsa-miR-342-3p	CLIP-seq
MIRT1922550	hsa-miR-342-5p	CLIP-seq
MIRT1922551	hsa-miR-377	CLIP-seq
MIRT1922552	hsa-miR-4251	CLIP-seq
MIRT1922553	hsa-miR-4329	CLIP-seq
MIRT1922554	hsa-miR-4662a-3p	CLIP-seq
MIRT1922555	hsa-miR-4664-5p	CLIP-seq
MIRT1922556	hsa-miR-4665-5p	CLIP-seq
MIRT1925035	hsa-miR-101	CLIP-seq
MIRT1925036	hsa-miR-1257	CLIP-seq
MIRT1925037	hsa-miR-1297	CLIP-seq
MIRT1925038	hsa-miR-144	CLIP-seq
MIRT1925039	hsa-miR-204	CLIP-seq
MIRT1925040	hsa-miR-211	CLIP-seq
MIRT1925041	hsa-miR-26a	CLIP-seq
MIRT1925042	hsa-miR-26b	CLIP-seq
MIRT1925043	hsa-miR-33a	CLIP-seq
MIRT1925044	hsa-miR-33b	CLIP-seq
MIRT1925045	hsa-miR-4436b-3p	CLIP-seq
MIRT1925046	hsa-miR-4446-5p	CLIP-seq
MIRT1925047	hsa-miR-4465	CLIP-seq
MIRT1925048	hsa-miR-4660	CLIP-seq
MIRT1925049	hsa-miR-4755-5p	CLIP-seq
MIRT1925050	hsa-miR-582-5p	CLIP-seq
MIRT1925051	hsa-miR-584	CLIP-seq
MIRT1925052	hsa-miR-595	CLIP-seq
MIRT1925053	hsa-miR-623	CLIP-seq
MIRT1925054	hsa-miR-646	CLIP-seq
MIRT1922546	hsa-miR-19a	CLIP-seq
MIRT1922547	hsa-miR-19b	CLIP-seq
MIRT2166498	hsa-miR-205	CLIP-seq
MIRT2383830	hsa-miR-132	CLIP-seq
MIRT2383831	hsa-miR-212	CLIP-seq
MIRT2383832	hsa-miR-380	CLIP-seq
MIRT2383833	hsa-miR-4328	CLIP-seq
MIRT2435177	hsa-miR-576-5p	CLIP-seq
MIRT2443084	hsa-miR-3127-5p	CLIP-seq
MIRT2443085	hsa-miR-4270	CLIP-seq
MIRT2443086	hsa-miR-4441	CLIP-seq
MIRT2443087	hsa-miR-4668-5p	CLIP-seq
MIRT2443088	hsa-miR-4774-3p	CLIP-seq
MIRT2468948	hsa-miR-1236	CLIP-seq
MIRT2468949	hsa-miR-1279	CLIP-seq
MIRT1925037	hsa-miR-1297	CLIP-seq
MIRT2383830	hsa-miR-132	CLIP-seq
MIRT763540	hsa-miR-1323	CLIP-seq
MIRT2468950	hsa-miR-134	CLIP-seq
MIRT2468951	hsa-miR-145	CLIP-seq
MIRT2468952	hsa-miR-150	CLIP-seq
MIRT2468953	hsa-miR-1910	CLIP-seq
MIRT2468954	hsa-miR-1913	CLIP-seq
MIRT2468955	hsa-miR-199a-3p	CLIP-seq
MIRT2468956	hsa-miR-199b-3p	CLIP-seq
MIRT1925039	hsa-miR-204	CLIP-seq
MIRT1925040	hsa-miR-211	CLIP-seq
MIRT2468957	hsa-miR-2113	CLIP-seq
MIRT2468958	hsa-miR-2114	CLIP-seq
MIRT2383831	hsa-miR-212	CLIP-seq
MIRT2468959	hsa-miR-214	CLIP-seq
MIRT1925041	hsa-miR-26a	CLIP-seq
MIRT1925042	hsa-miR-26b	CLIP-seq
MIRT2468960	hsa-miR-3118	CLIP-seq
MIRT2468961	hsa-miR-3129-5p	CLIP-seq
MIRT2468962	hsa-miR-3148	CLIP-seq
MIRT2468963	hsa-miR-3153	CLIP-seq
MIRT2468964	hsa-miR-3161	CLIP-seq
MIRT2468965	hsa-miR-3164	CLIP-seq
MIRT2468966	hsa-miR-3180-5p	CLIP-seq
MIRT2468967	hsa-miR-320a	CLIP-seq
MIRT2468968	hsa-miR-320b	CLIP-seq
MIRT2468969	hsa-miR-320c	CLIP-seq
MIRT2468970	hsa-miR-320d	CLIP-seq
MIRT2468971	hsa-miR-324-3p	CLIP-seq
MIRT2468972	hsa-miR-325	CLIP-seq
MIRT2468973	hsa-miR-3619-5p	CLIP-seq
MIRT763533	hsa-miR-374a	CLIP-seq
MIRT763534	hsa-miR-374b	CLIP-seq
MIRT2468974	hsa-miR-374c	CLIP-seq
MIRT1922551	hsa-miR-377	CLIP-seq
MIRT2468975	hsa-miR-3978	CLIP-seq
MIRT2468976	hsa-miR-4263	CLIP-seq
MIRT2468977	hsa-miR-4429	CLIP-seq
MIRT1925045	hsa-miR-4436b-3p	CLIP-seq
MIRT1925047	hsa-miR-4465	CLIP-seq
MIRT2468978	hsa-miR-4475	CLIP-seq
MIRT2468979	hsa-miR-4521	CLIP-seq
MIRT2468980	hsa-miR-4522	CLIP-seq
MIRT2468981	hsa-miR-455-3p	CLIP-seq
MIRT2468982	hsa-miR-4639-3p	CLIP-seq
MIRT2468983	hsa-miR-4659a-3p	CLIP-seq
MIRT2468984	hsa-miR-4659b-3p	CLIP-seq
MIRT2468985	hsa-miR-4668-3p	CLIP-seq
MIRT2443087	hsa-miR-4668-5p	CLIP-seq
MIRT2468986	hsa-miR-4678	CLIP-seq
MIRT2468987	hsa-miR-4694-3p	CLIP-seq
MIRT2468988	hsa-miR-4713-5p	CLIP-seq
MIRT2468989	hsa-miR-4724-3p	CLIP-seq
MIRT2468990	hsa-miR-4729	CLIP-seq
MIRT2468991	hsa-miR-4742-3p	CLIP-seq
MIRT1925049	hsa-miR-4755-5p	CLIP-seq
MIRT2468992	hsa-miR-4762-3p	CLIP-seq
MIRT2468993	hsa-miR-4762-5p	CLIP-seq
MIRT2468994	hsa-miR-4766-5p	CLIP-seq
MIRT2468995	hsa-miR-4795-3p	CLIP-seq
MIRT2468996	hsa-miR-4799-5p	CLIP-seq
MIRT2468997	hsa-miR-522	CLIP-seq
MIRT2468998	hsa-miR-532-3p	CLIP-seq
MIRT2468999	hsa-miR-548ag	CLIP-seq
MIRT2469000	hsa-miR-548ai	CLIP-seq
MIRT2469001	hsa-miR-548c-3p	CLIP-seq
MIRT763557	hsa-miR-548o	CLIP-seq
MIRT2435177	hsa-miR-576-5p	CLIP-seq
MIRT2469002	hsa-miR-599	CLIP-seq
MIRT2469003	hsa-miR-618	CLIP-seq
MIRT1925053	hsa-miR-623	CLIP-seq
MIRT2469004	hsa-miR-628-3p	CLIP-seq
MIRT2469005	hsa-miR-655	CLIP-seq
MIRT2469006	hsa-miR-656	CLIP-seq
MIRT2469007	hsa-miR-761	CLIP-seq
MIRT2469008	hsa-miR-934	CLIP-seq
MIRT2469009	hsa-miR-938	CLIP-seq
MIRT2468948	hsa-miR-1236	CLIP-seq
MIRT2468949	hsa-miR-1279	CLIP-seq
MIRT1925037	hsa-miR-1297	CLIP-seq
MIRT2674316	hsa-miR-1298	CLIP-seq
MIRT2383830	hsa-miR-132	CLIP-seq
MIRT763540	hsa-miR-1323	CLIP-seq
MIRT2468950	hsa-miR-134	CLIP-seq
MIRT2468951	hsa-miR-145	CLIP-seq
MIRT2468952	hsa-miR-150	CLIP-seq
MIRT2468953	hsa-miR-1910	CLIP-seq
MIRT2468954	hsa-miR-1913	CLIP-seq
MIRT2468955	hsa-miR-199a-3p	CLIP-seq
MIRT2468956	hsa-miR-199b-3p	CLIP-seq
MIRT2674317	hsa-miR-200b	CLIP-seq
MIRT2674318	hsa-miR-200c	CLIP-seq
MIRT1925039	hsa-miR-204	CLIP-seq
MIRT2166498	hsa-miR-205	CLIP-seq
MIRT1925040	hsa-miR-211	CLIP-seq
MIRT2468957	hsa-miR-2113	CLIP-seq
MIRT2468958	hsa-miR-2114	CLIP-seq
MIRT2383831	hsa-miR-212	CLIP-seq
MIRT2468959	hsa-miR-214	CLIP-seq
MIRT1925041	hsa-miR-26a	CLIP-seq
MIRT1925042	hsa-miR-26b	CLIP-seq
MIRT2468960	hsa-miR-3118	CLIP-seq
MIRT2443084	hsa-miR-3127-5p	CLIP-seq
MIRT2468961	hsa-miR-3129-5p	CLIP-seq
MIRT2468962	hsa-miR-3148	CLIP-seq
MIRT2468963	hsa-miR-3153	CLIP-seq
MIRT2468964	hsa-miR-3161	CLIP-seq
MIRT2468965	hsa-miR-3164	CLIP-seq
MIRT2468966	hsa-miR-3180-5p	CLIP-seq
MIRT2468967	hsa-miR-320a	CLIP-seq
MIRT2468968	hsa-miR-320b	CLIP-seq
MIRT2468969	hsa-miR-320c	CLIP-seq
MIRT2468970	hsa-miR-320d	CLIP-seq
MIRT2468971	hsa-miR-324-3p	CLIP-seq
MIRT2468972	hsa-miR-325	CLIP-seq
MIRT2468973	hsa-miR-3619-5p	CLIP-seq
MIRT2674319	hsa-miR-3691-3p	CLIP-seq
MIRT763533	hsa-miR-374a	CLIP-seq
MIRT763534	hsa-miR-374b	CLIP-seq
MIRT2468974	hsa-miR-374c	CLIP-seq
MIRT1922551	hsa-miR-377	CLIP-seq
MIRT2468975	hsa-miR-3978	CLIP-seq
MIRT2468976	hsa-miR-4263	CLIP-seq
MIRT2443085	hsa-miR-4270	CLIP-seq
MIRT2674320	hsa-miR-4282	CLIP-seq
MIRT2468977	hsa-miR-4429	CLIP-seq
MIRT1925045	hsa-miR-4436b-3p	CLIP-seq
MIRT2443086	hsa-miR-4441	CLIP-seq
MIRT1925046	hsa-miR-4446-5p	CLIP-seq
MIRT1925047	hsa-miR-4465	CLIP-seq
MIRT2468978	hsa-miR-4475	CLIP-seq
MIRT2468979	hsa-miR-4521	CLIP-seq
MIRT2468980	hsa-miR-4522	CLIP-seq
MIRT2468981	hsa-miR-455-3p	CLIP-seq
MIRT2468983	hsa-miR-4659a-3p	CLIP-seq
MIRT2468984	hsa-miR-4659b-3p	CLIP-seq
MIRT2468985	hsa-miR-4668-3p	CLIP-seq
MIRT2443087	hsa-miR-4668-5p	CLIP-seq
MIRT2468986	hsa-miR-4678	CLIP-seq
MIRT2468987	hsa-miR-4694-3p	CLIP-seq
MIRT2468988	hsa-miR-4713-5p	CLIP-seq
MIRT2468989	hsa-miR-4724-3p	CLIP-seq
MIRT2468990	hsa-miR-4729	CLIP-seq
MIRT2468991	hsa-miR-4742-3p	CLIP-seq
MIRT1925049	hsa-miR-4755-5p	CLIP-seq
MIRT2468992	hsa-miR-4762-3p	CLIP-seq
MIRT2468993	hsa-miR-4762-5p	CLIP-seq
MIRT2468994	hsa-miR-4766-5p	CLIP-seq
MIRT2443088	hsa-miR-4774-3p	CLIP-seq
MIRT2468995	hsa-miR-4795-3p	CLIP-seq
MIRT2468996	hsa-miR-4799-5p	CLIP-seq
MIRT2674321	hsa-miR-520d-5p	CLIP-seq
MIRT2468997	hsa-miR-522	CLIP-seq
MIRT2674322	hsa-miR-524-5p	CLIP-seq
MIRT2468998	hsa-miR-532-3p	CLIP-seq
MIRT2674323	hsa-miR-548ac	CLIP-seq
MIRT2468999	hsa-miR-548ag	CLIP-seq
MIRT2469000	hsa-miR-548ai	CLIP-seq
MIRT2469001	hsa-miR-548c-3p	CLIP-seq
MIRT2674324	hsa-miR-548d-3p	CLIP-seq
MIRT763557	hsa-miR-548o	CLIP-seq
MIRT2674325	hsa-miR-548z	CLIP-seq
MIRT2435177	hsa-miR-576-5p	CLIP-seq
MIRT763561	hsa-miR-590-3p	CLIP-seq
MIRT2469002	hsa-miR-599	CLIP-seq
MIRT2469003	hsa-miR-618	CLIP-seq
MIRT1925053	hsa-miR-623	CLIP-seq
MIRT2469004	hsa-miR-628-3p	CLIP-seq
MIRT2469005	hsa-miR-655	CLIP-seq
MIRT2469006	hsa-miR-656	CLIP-seq
MIRT2469007	hsa-miR-761	CLIP-seq
MIRT2469008	hsa-miR-934	CLIP-seq
MIRT2469009	hsa-miR-938	CLIP-seq

Show/Hide all (53)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0001676	Process	Long-chain fatty acid metabolic process	IBA
GO:0001676	Process	Long-chain fatty acid metabolic process	IDA	24269233
GO:0001676	Process	Long-chain fatty acid metabolic process	IEA
GO:0001676	Process	Long-chain fatty acid metabolic process	IMP	22633490
GO:0004467	Function	Long-chain fatty acid-CoA ligase activity	EXP	11889465, 12525535
GO:0004467	Function	Long-chain fatty acid-CoA ligase activity	IDA	10669417, 21242590, 24269233
GO:0004467	Function	Long-chain fatty acid-CoA ligase activity	IEA
GO:0004467	Function	Long-chain fatty acid-CoA ligase activity	IMP	22633490
GO:0005524	Function	ATP binding	IEA
GO:0005737	Component	Cytoplasm	IDA	11889465
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IEA
GO:0005741	Component	Mitochondrial outer membrane	IEA
GO:0005741	Component	Mitochondrial outer membrane	TAS
GO:0005777	Component	Peroxisome	IEA
GO:0005778	Component	Peroxisomal membrane	IEA
GO:0005783	Component	Endoplasmic reticulum	IBA
GO:0005783	Component	Endoplasmic reticulum	IDA	24269233
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0005811	Component	Lipid droplet	IBA
GO:0005811	Component	Lipid droplet	IDA	14741744
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	24269233
GO:0005886	Component	Plasma membrane	IEA
GO:0006629	Process	Lipid metabolic process	IDA	9598324
GO:0006629	Process	Lipid metabolic process	IEA
GO:0006631	Process	Fatty acid metabolic process	IEA
GO:0006631	Process	Fatty acid metabolic process	TAS
GO:0006636	Process	Unsaturated fatty acid biosynthetic process	IEA
GO:0008610	Process	Lipid biosynthetic process	IDA	21242590
GO:0016020	Component	Membrane	HDA	19946888
GO:0016020	Component	Membrane	IEA
GO:0016874	Function	Ligase activity	IEA
GO:0030182	Process	Neuron differentiation	IBA
GO:0030307	Process	Positive regulation of cell growth	IDA	17934335
GO:0031957	Function	Very long-chain fatty acid-CoA ligase activity	IMP	11889465
GO:0032024	Process	Positive regulation of insulin secretion	ISS
GO:0032307	Process	Negative regulation of prostaglandin secretion	IDA	21242590
GO:0035336	Process	Long-chain fatty-acyl-CoA metabolic process	IBA
GO:0035338	Process	Long-chain fatty-acyl-CoA biosynthetic process	TAS
GO:0036109	Process	Alpha-linolenic acid metabolic process	IEA
GO:0042759	Process	Long-chain fatty acid biosynthetic process	IEA
GO:0044233	Component	Mitochondria-associated endoplasmic reticulum membrane contact site	IDA	23455425
GO:0047676	Function	Arachidonate-CoA ligase activity	IBA
GO:0047676	Function	Arachidonate-CoA ligase activity	IDA	9598324, 21242590
GO:0047676	Function	Arachidonate-CoA ligase activity	IEA
GO:0060136	Process	Embryonic process involved in female pregnancy	IEA
GO:0070062	Component	Extracellular exosome	HDA	19056867, 20458337
GO:0090433	Function	Palmitoyl-CoA ligase activity	TAS
GO:1901570	Process	Fatty acid derivative biosynthetic process	IEA

MIM	HGNC	e!Ensembl
300157	3571	ENSG00000068366

O60488

Protein name

Long-chain-fatty-acid--CoA ligase 4 (EC 6.2.1.3) (Arachidonate--CoA ligase) (EC 6.2.1.15) (Long-chain acyl-CoA synthetase 4) (LACS 4)

Protein function

Catalyzes the conversion of long-chain fatty acids to their active form acyl-CoA for both synthesis of cellular lipids, and degradation via beta-oxidation (PubMed:21242590, PubMed:22633490, PubMed:24269233). Preferentially activates arachidonate

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00501	AMP-binding	103 → 578	AMP-binding enzyme	Family

Sequence

MKLKLNVLTIILLPVHLLITIYSALIFIPWYFLTNAKKKNAMAKRIKAKPTSDKPGSPYR
SVTHFDSLAVIDIPGADTLDKLFDHAVSKFGKKDSLGTREILSEENEMQPNGKVFKKLIL
GNYKWMNYLEVNRRVNNFGSGLTALGLKPKNTIAIFCETRAEWMIAAQTCFKYNFPLVTL
YATLGKEAVVHGLNESEASYLITSVELLESKLKTALLDISCVKHIIYVDNKAINKAEYPE
GFEIHSMQSVEELGSNPENLGIPPSRPTPSDMAIVMYTSGSTGRPKGVMMHHSNLIAGMT
GQCERIPGLGPKDTYIGYLPLAHVLELTAEISCFTYGCRIGYSSPLTLSDQSSKIKKGSK
GDCTVLKPTLMAAVPEIMDRIYKNVMSKVQEMNYIQKTLFKIGYDYKLEQIKKGYDAPLC
NLLLFKKVKALLGGNVRMMLSGGAPLSPQTHRFMNVCFCCPIGQGYGLTESCGAGTVTEV
TDYTTGRVGAPLICCEIKLKDWQEGGYTINDKPNPRGEIVIGGQNISMGYFKNEEKTAED
YSVDENGQRWFCTGDIGEFHPDGCLQIIDRKKDLVKLQAGEYVSLGKVEAALKNCPLIDN
ICAFAKSDQSYVISFVVPNQKRLTLLAQQKGVEGTWVDICNNPAMEAEILKEIREAANAM
KLERFEIPIKVRLSPEPWTPETGLVTDAFKLKRKELRNHYLKDIERMYGGK

Sequence length

711

Interactions

View interactions

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 (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Intellectual disability	Likely pathogenic	rs1603401125	RCV000850208	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual disability, X-linked 63	Pathogenic; Likely pathogenic	rs2147437405, rs2147391497, rs2521078665, rs2521231477, rs122458138, rs1569423317, rs122458139, rs1924147806	RCV002210940 RCV002255236 RCV002290221 RCV002291087 RCV000012320 RCV000012321 RCV000012322 RCV001251654 View all (3 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (23)

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.
ACSL4-related disorder	Uncertain significance; Conflicting classifications of pathogenicity; Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ARTHRITIS, EXPERIMENTAL	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autism spectrum disorder	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDERS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, HEPATOCELLULAR	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEPRESSIVE DISORDER	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLOBAL DEVELOPMENTAL DELAY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 63	—	Disgenet, HPO Disgenet, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL DEPRESSION	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL RETARDATION	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL RETARDATION, X-LINKED 63	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL RETARDATION, X-LINKED NONSYNDROMIC	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Non-syndromic X-linked intellectual disability	Conflicting classifications of pathogenicity	ClinVar ClinGen, GenCC	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Nonpapillary renal cell carcinoma	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATIC NEOPLASMS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
X-LINKED NON-SYNDROMIC INTELLECTUAL DISABILITY	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (143)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
2-3 toe syndactyly	Syndactyly Of The Toes	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	11731423		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	LHGDN	11731423		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of colon	Adenocarcinoma Of Colon	BEFREE	11731423, 12824887		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	CTD_human_DG	27602772		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	BEFREE	11731423		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adrenocortical Carcinoma	Adrenocortical carcinoma	Pubtator	35500219	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Alport Syndrome	Alport Syndrome	BEFREE	10049589, 20186809, 9480748		★★★★★ ★☆☆☆☆ Found in Text Mining only
Alport Syndrome, Mental Retardation, Midface Hypoplasia, and Elliptocytosis	Amme complex	BEFREE	10828604		★★★★★ ★☆☆☆☆ Found in Text Mining only
Alport Syndrome, Mental Retardation, Midface Hypoplasia, and Elliptocytosis	Amme complex	GENOMICS_ENGLAND_DG	11889465		★★★★★ ★☆☆☆☆ Found in Text Mining only
Alport Syndrome, Mental Retardation, Midface Hypoplasia, and Elliptocytosis	Amme complex	ORPHANET_DG	9598718		★★★★★ ★☆☆☆☆ Found in Text Mining only
Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome	Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	26147000	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	Pubtator	39742023	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Autistic behavior	Autism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	BEFREE	21384559		★★★★★ ★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar Disorder	BEFREE	21184843, 28500975		★★★★★ ★☆☆☆☆ Found in Text Mining only
Brain Injuries	Brain injuries	Pubtator	29638160	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	21085606, 24155918, 28334272, 30414939, 31311992		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	21085606, 27171439, 29450800, 31311992, 34482070, 38078907, 39862136, 40612672	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	15849811, 32357142	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	12824919, 15849811, 28887439, 30138348, 32357142, 32859232, 35603967, 40500772	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	27171439		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	35000852	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	40349055	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Ischemic stroke	Pubtator	35197442	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	Pubtator	36111744	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Cholangiocarcinoma	Pubtator	37193981	Stimulate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cognition Disorders	Cognition disorder	Pubtator	12525535	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	11731423		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	21085606	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	27171439, 28894242, 31339921		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	UNIPROT_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	15849811, 27171439, 28894242, 33611811, 35855531, 37059712, 37428466	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital chromosomal disease	Congenital Chromosomal Disease	BEFREE	16276108		★★★★★ ★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	30264402		★★★★★ ★☆☆☆☆ Found in Text Mining only
Depression, Neurotic	Mental Depression	CTD_human_DG	15108178		★★★★★ ★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	15108178		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Depressive disorder	Mental Depression	CTD_human_DG	15108178		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Depressive Disorder	Major depressive disorder	Pubtator	19346733	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Depressive Syndrome	Mental Depression	CTD_human_DG	15108178		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	38354757	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathies	Diabetic neuropathy	Pubtator	33565572	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetic Retinopathy	Diabetic retinopathy	Pubtator	36092160	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Elliptocytosis 1	Hereditary elliptocytosis	Pubtator	9480748	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Elliptocytosis, Hereditary	Elliptocytosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Endogenous depression	Mental Depression	CTD_human_DG	15108178		★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	37203411	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Facial paralysis	Facial paralysis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Fatty Liver	Fatty liver	Pubtator	30270343	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Fatty Liver Disease	Fatty Liver	BEFREE	29568887		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	32452511, 37158834	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	30596429, 31789401		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	31789401	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	35697672	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	BEFREE	16276108		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glomerulonephritis IGA	Iga nephropathy	Pubtator	36147466	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart Defects Congenital	Congenital heart defect	Pubtator	35035663	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart disease	Pubtator	34288826	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypercholesterolemia	Hypercholesterolemia	BEFREE	25645621		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	39323909	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	40682199	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Idiopathic pulmonary fibrosis	Pubtator	38117249	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	16276108		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	11889465, 18614287, 20186809, 23520119, 30594466, 9480748		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual Disability	Intellectual developmental disorder	Pubtator	12525535, 9480748	Associate	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual Disability	Mental retardation	HPO_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Kidney Failure, Acute	Kidney Failure	BEFREE	30890325		★★★★★ ★☆☆☆☆ Found in Text Mining only
leiomyosarcoma	Leiomyosarcoma	BEFREE	29450800		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leiomyosarcoma	Leiomyosarcoma	Pubtator	29450800	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	12824887, 15849811, 18059177, 21085606, 24576478, 28887439		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	LHGDN	12824887, 15849811		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	CTD_human_DG	19363144		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver Diseases	Liver disease	Pubtator	30138348	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	BEFREE	12824887, 15849811		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	LHGDN	18059177		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver Neoplasms	Liver neoplasm	Pubtator	18059177	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	22163040		★★★★★ ★☆☆☆☆ Found in Text Mining only
Macrocephaly	Macrocephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	21085606, 24155918, 28334272, 30414939, 31311992		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	27171439		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	CTD_human_DG	17013881		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	26636648, 30414939		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	26949059		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	18059177, 28887439, 29450800, 30008815, 30153566, 31306767		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	11731423		★★★★★ ★☆☆☆☆ Found in Text Mining only
Meckel Diverticulum	Meckel Diverticulum	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Melancholia	Melancholia	CTD_human_DG	15108178		★★★★★ ★☆☆☆☆ Found in Text Mining only
Melanoma Cutaneous Malignant	Melanoma	Pubtator	33663112	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	BEFREE	15108178		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mental disorders	Mental Disorders	BEFREE	19617635		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mental Retardation	Mental retardation	BEFREE	18614287, 9480748		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mental Retardation, X-Linked	Mental retardation	BEFREE	11889465, 19617635, 21384559		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mental Retardation, X-Linked	Mental retardation	LHGDN	11889465, 12525535		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mental Retardation, X-Linked 1	Mental Retardation, X-Linked	ORPHANET_DG	11889465		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mental Retardation, X-Linked 1	Mental Retardation, X-Linked	BEFREE	12525535, 12949969, 19617635		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mental Retardation, X-Linked 63	Mental retardation	GENOMICS_ENGLAND_DG	11889465		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mental Retardation, X-Linked 63	Mental retardation	UNIPROT_DG	11889465		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mental Retardation, X-Linked 63	Mental retardation	BEFREE	12525535		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mental Retardation, X-Linked 63	Mental retardation	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mental Retardation, X-Linked 63	Mental retardation	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mental Retardation, X-Linked Nonsyndromic	Mental retardation	CLINGEN_DG	11889465, 12525535, 19166906, 19617635, 24553921, 26350204, 27656110		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Metabolic Syndrome	Metabolic syndrome	Pubtator	19346733	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome X	Metabolic Syndrome	BEFREE	19346733		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mild neurosensory hearing impairment	Neurosensory Hearing impairment	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Moderate intellectual disability	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy, Duchenne	Duchenne Muscular Dystrophy	BEFREE	16276108		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial infarction	Pubtator	35231061	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	11731423, 24155918, 26949059, 30414939		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuromuscular Diseases	Neuromuscular Diseases	BEFREE	16276108		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuromuscular Diseases	Neuromuscular Diseases	LHGDN	16276108		★★★★★ ★☆☆☆☆ Found in Text Mining only
Non-alcoholic Fatty Liver Disease	Non-Alcoholic Fatty Liver Disease	BEFREE	17704301, 29568887		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nonalcoholic Steatohepatitis	Non-alcoholic Fatty Liver Disease	BEFREE	29568887		★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	38062071	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteoglophonic dwarfism	Osteoglophonic dwarfism	Pubtator	38287843	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	40349055	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Patent ductus arteriosus	Patent ductus arteriosus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic ovary syndrome	Pubtator	36884209	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	26636648, 30414939		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	CTD_human_DG	17013881		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Renal glomerular disease	Renal Glomerular Disease	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal Insufficiency	Renal Insufficiency	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma	Rhabdomyosarcoma	Pubtator	29450800	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	BEFREE	29450800		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Sarcoma	Pubtator	29450800	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	BEFREE	15108178		★★★★★ ★☆☆☆☆ Found in Text Mining only
Septicemia	Septicemia	BEFREE	31681299		★★★★★ ★☆☆☆☆ Found in Text Mining only
Severe intellectual disability	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Speech Delay	Speech Delay	BEFREE	20186809		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	37993428, 38186303	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	26949059		★★★★★ ★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Tonic - clonic seizures	Seizure	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	24155918, 31311992		★★★★★ ★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	31311992	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Unipolar Depression	Mental Depression	CTD_human_DG	15108178		★★★★★ ★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular disease	Pubtator	36092160	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
X-linked non-syndromic intellectual disability	Non-Syndromic Intellectual Disability, X-Linked	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

ACSL4 (acyl-CoA synthetase long chain family member 4)