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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	79143
Gene name	Membrane bound acylglycerophosphatidylinositol O-acyltransferase MBOAT7
Gene symbol	MBOAT7
Synonyms (NCBI Gene)	BB1LENG4LPIATLPIAT1LPLATLPLAT11LRC4MBOA7MRT57OACT7hMBOA-7
Chromosome	19
Chromosome location	19q13.42
Summary	This gene encodes a member of the membrane-bound O-acyltransferases family of integral membrane proteins that have acyltransferase activity. The encoded protein is a lysophosphatidylinositol acyltransferase that has specificity for arachidonoyl-CoA as an

Show/Hide all (5)

SNP ID	Visualize variation	Clinical significance	Consequence
rs750035706	GCAGCCGCACTCGGCGGCAAT>-	Pathogenic	Coding sequence variant, inframe deletion
rs886041059	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs886041060	C>G	Pathogenic	Splice donor variant
rs886041061	GGCCGCC>-	Pathogenic	Frameshift variant, coding sequence variant
rs1600651595	TGCAGCCGCACTC>-	Pathogenic	Frameshift variant, coding sequence variant

192

Show/Hide all (192)

miRTarBase ID	miRNA	Experiments	Reference
MIRT031240	hsa-miR-19b-3p	Sequencing	20371350
MIRT041731	hsa-miR-484	CLASH	23622248
MIRT039960	hsa-miR-615-3p	CLASH	23622248
MIRT1135927	hsa-miR-1205	CLIP-seq
MIRT1135928	hsa-miR-1245b-3p	CLIP-seq
MIRT1135929	hsa-miR-1253	CLIP-seq
MIRT1135930	hsa-miR-203	CLIP-seq
MIRT1135931	hsa-miR-24	CLIP-seq
MIRT1135932	hsa-miR-3127-3p	CLIP-seq
MIRT1135933	hsa-miR-3153	CLIP-seq
MIRT1135934	hsa-miR-329	CLIP-seq
MIRT1135935	hsa-miR-3611	CLIP-seq
MIRT1135936	hsa-miR-362-3p	CLIP-seq
MIRT1135937	hsa-miR-3661	CLIP-seq
MIRT1135938	hsa-miR-3679-3p	CLIP-seq
MIRT1135939	hsa-miR-3941	CLIP-seq
MIRT1135940	hsa-miR-3977	CLIP-seq
MIRT1135941	hsa-miR-4281	CLIP-seq
MIRT1135942	hsa-miR-4284	CLIP-seq
MIRT1135943	hsa-miR-4328	CLIP-seq
MIRT1135944	hsa-miR-4330	CLIP-seq
MIRT1135945	hsa-miR-4527	CLIP-seq
MIRT1135946	hsa-miR-466	CLIP-seq
MIRT1135947	hsa-miR-4668-5p	CLIP-seq
MIRT1135948	hsa-miR-4672	CLIP-seq
MIRT1135949	hsa-miR-4717-5p	CLIP-seq
MIRT1135950	hsa-miR-4731-5p	CLIP-seq
MIRT1135951	hsa-miR-4740-3p	CLIP-seq
MIRT1135952	hsa-miR-603	CLIP-seq
MIRT1135953	hsa-miR-615-5p	CLIP-seq
MIRT1135954	hsa-miR-631	CLIP-seq
MIRT1135955	hsa-miR-665	CLIP-seq
MIRT1135956	hsa-miR-671-5p	CLIP-seq
MIRT1135957	hsa-miR-758	CLIP-seq
MIRT1135958	hsa-miR-1207-3p	CLIP-seq
MIRT1135959	hsa-miR-1207-5p	CLIP-seq
MIRT1135960	hsa-miR-1231	CLIP-seq
MIRT1135961	hsa-miR-2110	CLIP-seq
MIRT1135962	hsa-miR-2277-3p	CLIP-seq
MIRT1135963	hsa-miR-2467-3p	CLIP-seq
MIRT1135964	hsa-miR-3125	CLIP-seq
MIRT1135965	hsa-miR-3150a-3p	CLIP-seq
MIRT1135966	hsa-miR-3150b-3p	CLIP-seq
MIRT1135967	hsa-miR-3175	CLIP-seq
MIRT1135968	hsa-miR-3655	CLIP-seq
MIRT1135969	hsa-miR-3674	CLIP-seq
MIRT1135970	hsa-miR-3689d	CLIP-seq
MIRT1135971	hsa-miR-378	CLIP-seq
MIRT1135972	hsa-miR-378b	CLIP-seq
MIRT1135973	hsa-miR-378c	CLIP-seq
MIRT1135974	hsa-miR-378d	CLIP-seq
MIRT1135975	hsa-miR-378e	CLIP-seq
MIRT1135976	hsa-miR-378f	CLIP-seq
MIRT1135977	hsa-miR-378h	CLIP-seq
MIRT1135978	hsa-miR-378i	CLIP-seq
MIRT1135979	hsa-miR-3916	CLIP-seq
MIRT1135940	hsa-miR-3977	CLIP-seq
MIRT1135980	hsa-miR-422a	CLIP-seq
MIRT1135981	hsa-miR-4271	CLIP-seq
MIRT1135982	hsa-miR-4288	CLIP-seq
MIRT1135983	hsa-miR-4314	CLIP-seq
MIRT1135984	hsa-miR-4419a	CLIP-seq
MIRT1135985	hsa-miR-4510	CLIP-seq
MIRT1135986	hsa-miR-4514	CLIP-seq
MIRT1135987	hsa-miR-4522	CLIP-seq
MIRT1135945	hsa-miR-4527	CLIP-seq
MIRT1135988	hsa-miR-4638-3p	CLIP-seq
MIRT1135989	hsa-miR-4640-5p	CLIP-seq
MIRT1135990	hsa-miR-4667-5p	CLIP-seq
MIRT1135991	hsa-miR-4692	CLIP-seq
MIRT1135992	hsa-miR-4700-5p	CLIP-seq
MIRT1135993	hsa-miR-4725-3p	CLIP-seq
MIRT1135994	hsa-miR-4726-5p	CLIP-seq
MIRT1135950	hsa-miR-4731-5p	CLIP-seq
MIRT1135995	hsa-miR-4757-5p	CLIP-seq
MIRT1135996	hsa-miR-4763-3p	CLIP-seq
MIRT1135997	hsa-miR-4784	CLIP-seq
MIRT1135998	hsa-miR-542-3p	CLIP-seq
MIRT1135999	hsa-miR-632	CLIP-seq
MIRT1136000	hsa-miR-637	CLIP-seq
MIRT1136001	hsa-miR-765	CLIP-seq
MIRT1136002	hsa-miR-939	CLIP-seq
MIRT1136003	hsa-miR-940	CLIP-seq
MIRT2038617	hsa-miR-1197	CLIP-seq
MIRT1135959	hsa-miR-1207-5p	CLIP-seq
MIRT1135928	hsa-miR-1245b-3p	CLIP-seq
MIRT1135929	hsa-miR-1253	CLIP-seq
MIRT2038618	hsa-miR-1260	CLIP-seq
MIRT2038619	hsa-miR-1260b	CLIP-seq
MIRT2038620	hsa-miR-1285	CLIP-seq
MIRT2038621	hsa-miR-1321	CLIP-seq
MIRT2038622	hsa-miR-188-3p	CLIP-seq
MIRT2038623	hsa-miR-1913	CLIP-seq
MIRT2038624	hsa-miR-1915	CLIP-seq
MIRT2038625	hsa-miR-21	CLIP-seq
MIRT2038626	hsa-miR-2115	CLIP-seq
MIRT2038627	hsa-miR-2276	CLIP-seq
MIRT1135931	hsa-miR-24	CLIP-seq
MIRT1135963	hsa-miR-2467-3p	CLIP-seq
MIRT1135933	hsa-miR-3153	CLIP-seq
MIRT2038628	hsa-miR-3156-3p	CLIP-seq
MIRT2038629	hsa-miR-3187-5p	CLIP-seq
MIRT2038630	hsa-miR-324-3p	CLIP-seq
MIRT2038631	hsa-miR-326	CLIP-seq
MIRT1135934	hsa-miR-329	CLIP-seq
MIRT2038632	hsa-miR-330-5p	CLIP-seq
MIRT2038633	hsa-miR-3616-3p	CLIP-seq
MIRT1135936	hsa-miR-362-3p	CLIP-seq
MIRT1135937	hsa-miR-3661	CLIP-seq
MIRT2038634	hsa-miR-3667-3p	CLIP-seq
MIRT2038635	hsa-miR-3691-3p	CLIP-seq
MIRT2038636	hsa-miR-378g	CLIP-seq
MIRT1135939	hsa-miR-3941	CLIP-seq
MIRT2038637	hsa-miR-4270	CLIP-seq
MIRT1135941	hsa-miR-4281	CLIP-seq
MIRT1135942	hsa-miR-4284	CLIP-seq
MIRT2038638	hsa-miR-4289	CLIP-seq
MIRT2038639	hsa-miR-4301	CLIP-seq
MIRT2038640	hsa-miR-4313	CLIP-seq
MIRT1135944	hsa-miR-4330	CLIP-seq
MIRT2038641	hsa-miR-4436b-3p	CLIP-seq
MIRT2038642	hsa-miR-4441	CLIP-seq
MIRT2038643	hsa-miR-4466	CLIP-seq
MIRT2038644	hsa-miR-4486	CLIP-seq
MIRT1135946	hsa-miR-466	CLIP-seq
MIRT1135947	hsa-miR-4668-5p	CLIP-seq
MIRT1135948	hsa-miR-4672	CLIP-seq
MIRT1135949	hsa-miR-4717-5p	CLIP-seq
MIRT2038645	hsa-miR-4726-3p	CLIP-seq
MIRT1135950	hsa-miR-4731-5p	CLIP-seq
MIRT2038646	hsa-miR-4739	CLIP-seq
MIRT1135951	hsa-miR-4740-3p	CLIP-seq
MIRT2038647	hsa-miR-4747-5p	CLIP-seq
MIRT2038648	hsa-miR-4756-5p	CLIP-seq
MIRT1135996	hsa-miR-4763-3p	CLIP-seq
MIRT2038649	hsa-miR-4772-3p	CLIP-seq
MIRT2038650	hsa-miR-4786-3p	CLIP-seq
MIRT2038651	hsa-miR-4796-3p	CLIP-seq
MIRT2038652	hsa-miR-492	CLIP-seq
MIRT2038653	hsa-miR-516a-3p	CLIP-seq
MIRT2038654	hsa-miR-548n	CLIP-seq
MIRT2038655	hsa-miR-548t	CLIP-seq
MIRT2038656	hsa-miR-556-5p	CLIP-seq
MIRT2038657	hsa-miR-590-5p	CLIP-seq
MIRT1135952	hsa-miR-603	CLIP-seq
MIRT2038658	hsa-miR-610	CLIP-seq
MIRT2038659	hsa-miR-612	CLIP-seq
MIRT1135953	hsa-miR-615-5p	CLIP-seq
MIRT1135954	hsa-miR-631	CLIP-seq
MIRT1135955	hsa-miR-665	CLIP-seq
MIRT1135956	hsa-miR-671-5p	CLIP-seq
MIRT2038660	hsa-miR-675	CLIP-seq
MIRT2038618	hsa-miR-1260	CLIP-seq
MIRT2038619	hsa-miR-1260b	CLIP-seq
MIRT2038622	hsa-miR-188-3p	CLIP-seq
MIRT2038623	hsa-miR-1913	CLIP-seq
MIRT2038624	hsa-miR-1915	CLIP-seq
MIRT2038628	hsa-miR-3156-3p	CLIP-seq
MIRT2568059	hsa-miR-3188	CLIP-seq
MIRT2038630	hsa-miR-324-3p	CLIP-seq
MIRT2568060	hsa-miR-3691-5p	CLIP-seq
MIRT2038638	hsa-miR-4289	CLIP-seq
MIRT2038639	hsa-miR-4301	CLIP-seq
MIRT2038640	hsa-miR-4313	CLIP-seq
MIRT2568061	hsa-miR-4457	CLIP-seq
MIRT2038645	hsa-miR-4726-3p	CLIP-seq
MIRT2568062	hsa-miR-4731-3p	CLIP-seq
MIRT2568063	hsa-miR-4752	CLIP-seq
MIRT2568064	hsa-miR-4801	CLIP-seq
MIRT2038652	hsa-miR-492	CLIP-seq
MIRT2568065	hsa-miR-518a-5p	CLIP-seq
MIRT2568066	hsa-miR-527	CLIP-seq
MIRT2038618	hsa-miR-1260	CLIP-seq
MIRT2038619	hsa-miR-1260b	CLIP-seq
MIRT2038622	hsa-miR-188-3p	CLIP-seq
MIRT2038623	hsa-miR-1913	CLIP-seq
MIRT2038624	hsa-miR-1915	CLIP-seq
MIRT2038628	hsa-miR-3156-3p	CLIP-seq
MIRT2568059	hsa-miR-3188	CLIP-seq
MIRT2038630	hsa-miR-324-3p	CLIP-seq
MIRT2568060	hsa-miR-3691-5p	CLIP-seq
MIRT2038638	hsa-miR-4289	CLIP-seq
MIRT2038639	hsa-miR-4301	CLIP-seq
MIRT2038640	hsa-miR-4313	CLIP-seq
MIRT2568061	hsa-miR-4457	CLIP-seq
MIRT2038645	hsa-miR-4726-3p	CLIP-seq
MIRT2568062	hsa-miR-4731-3p	CLIP-seq
MIRT2568063	hsa-miR-4752	CLIP-seq
MIRT2568064	hsa-miR-4801	CLIP-seq
MIRT2038652	hsa-miR-492	CLIP-seq
MIRT2568065	hsa-miR-518a-5p	CLIP-seq
MIRT2568066	hsa-miR-527	CLIP-seq

Show/Hide all (39)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003841	Function	1-acylglycerol-3-phosphate O-acyltransferase activity	TAS
GO:0005515	Function	Protein binding	IPI	21903422, 23510452
GO:0005783	Component	Endoplasmic reticulum	IDA	30959108
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0006629	Process	Lipid metabolic process	IEA
GO:0006644	Process	Phospholipid metabolic process	IEA
GO:0006661	Process	Phosphatidylinositol biosynthetic process	IBA
GO:0006661	Process	Phosphatidylinositol biosynthetic process	IMP	18094042
GO:0008374	Function	O-acyltransferase activity	IDA	18772128
GO:0008374	Function	O-acyltransferase activity	IEA
GO:0008374	Function	O-acyltransferase activity	IMP	18094042
GO:0008374	Function	O-acyltransferase activity	ISS
GO:0008654	Process	Phospholipid biosynthetic process	IEA
GO:0016020	Component	Membrane	HDA	19946888
GO:0016020	Component	Membrane	IBA
GO:0016020	Component	Membrane	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0016746	Function	Acyltransferase activity	IEA
GO:0021591	Process	Ventricular system development	IEA
GO:0021819	Process	Layer formation in cerebral cortex	IEA
GO:0021819	Process	Layer formation in cerebral cortex	ISS
GO:0030258	Process	Lipid modification	IBA
GO:0036149	Process	Phosphatidylinositol acyl-chain remodeling	IDA	18772128
GO:0036149	Process	Phosphatidylinositol acyl-chain remodeling	IEA
GO:0036149	Process	Phosphatidylinositol acyl-chain remodeling	IMP	32253259
GO:0036149	Process	Phosphatidylinositol acyl-chain remodeling	TAS
GO:0036151	Process	Phosphatidylcholine acyl-chain remodeling	IDA	18772128
GO:0044233	Component	Mitochondria-associated endoplasmic reticulum membrane contact site	IBA
GO:0044233	Component	Mitochondria-associated endoplasmic reticulum membrane contact site	IDA	23510452
GO:0046488	Process	Phosphatidylinositol metabolic process	IEA
GO:0047144	Function	2-acylglycerol-3-phosphate O-acyltransferase activity	TAS
GO:0071617	Function	Lysophospholipid acyltransferase activity	IBA
GO:0071617	Function	Lysophospholipid acyltransferase activity	IEA
GO:0071617	Function	Lysophospholipid acyltransferase activity	ISS
GO:0090207	Process	Regulation of triglyceride metabolic process	IEA
GO:0090207	Process	Regulation of triglyceride metabolic process	IMP	32253259
GO:0090207	Process	Regulation of triglyceride metabolic process	ISS

MIM	HGNC	e!Ensembl
606048	15505	ENSG00000125505

Q96N66

Protein name

Membrane-bound acylglycerophosphatidylinositol O-acyltransferase MBOAT7 (EC 2.3.1.-) (1-acylglycerophosphatidylinositol O-acyltransferase) (Bladder and breast carcinoma-overexpressed gene 1 protein) (Leukocyte receptor cluster member 4) (Lysophosphatidyli

Protein function

Acyltransferase which catalyzes the transfer of an acyl group from an acyl-CoA to a lysophosphatidylinositol (1-acylglycerophosphatidylinositol or LPI) leading to the production of a phosphatidylinositol (1,2-diacyl-sn-glycero-3-phosphoinositol

PDB

8ERC

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF03062	MBOAT	63 → 422	MBOAT, membrane-bound O-acyltransferase family	Family

Tissue specificity

TISSUE SPECIFICITY: Overexpressed in metastatic breast and bladder carcinomas relative to normal breast epithelium and urothelium. {ECO:0000269|PubMed:18772128}.

Sequence

MSPEEWTYLVVLLISIPIGFLFKKAGPGLKRWGAAAVGLGLTLFTCGPHTLHSLVTILGT
WALIQAQPCSCHALALAWTFSYLLFFRALSLLGLPTPTPFTNAVQLLLTLKLVSLASEVQ
DLHLAQRKEMASGFSKGPTLGLLPDVPSLMETLSYSYCYVGIMTGPFFRYRTYLDWLEQP
FPGAVPSLRPLLRRAWPAPLFGLLFLLSSHLFPLEAVREDAFYARPLPARLFYMIPVFFA
FRMRFYVAWIAAECGCIAAGFGAYPVAAKARAGGGPTLQCPPPSSPEKAASLEYDYETIR
NIDCYSTDFCVRVRDGMRYWNMTVQWWLAQYIYKSAPARSYVLRSAWTMLLSAYWHGLHP
GYYLSFLTIPLCLAAEGRLESALRGRLSPGGQKAWDWVHWFLKMRAYDYMCMGFVLLSLA
DTLRYWASIYFCIHFLALAALGLGLALGGGSPSRRKAASQPTSLAPEKLREE

Sequence length

472

Interactions

View interactions

	KEGG		Reactome
	Glycerophospholipid metabolism		Acyl chain remodelling of PI

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 (4)

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	rs2076453977	RCV001291093	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual disability, autosomal recessive 57	Likely pathogenic; Pathogenic	rs1264222654, rs2076508722, rs868498080, rs2146989146, rs886041058, rs750035706, rs886041059, rs886041060, rs886041061, rs2515037913, rs2076013475, rs2076017638	RCV001449806 RCV001782418 RCV001795004 RCV001808107 RCV000258826 View all (7 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
MBOAT7-related disorder	Likely pathogenic	rs2515178934	RCV003964293	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurodevelopmental abnormality	Pathogenic	rs2076013475	RCV005241246	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (8)

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.
AUTOSOMAL RECESSIVE NON-SYNDROMIC INTELLECTUAL DISABILITY	—	CTD, Disgenet, Orphanet CTD, Disgenet, Orphanet CTD, Disgenet, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMPLEX NEURODEVELOPMENTAL DISORDER	—	ClinGen, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 57	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER CIRRHOSIS, ALCOHOLIC	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-ALCOHOLIC FATTY LIVER DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-SPECIFIC SYNDROMIC INTELLECTUAL DISABILITY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (93)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Absence of septum pellucidum	Absence Of Septum Pellucidum	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Adrenoleukodystrophy	Adrenoleukodystrophy	BEFREE	30132178		★★★★★ ★☆☆☆☆ Found in Text Mining only
Amblyopia	Amblyopia	Pubtator	31282596	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety disorder	Pubtator	31282596	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Anxiety Disorders	Anxiety disorder	Pubtator	31282596	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ataxia	Ataxia	Pubtator	31282596, 34979703	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	Pubtator	37424875	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Atrophy	Atrophy	Pubtator	31282596	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Attention Deficit Disorder with Hyperactivity	Attention deficit hyperactivity disorder	Pubtator	31282596, 40116760	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	BEFREE	31282596		★★★★★ ★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorder	Autism	Pubtator	31282596, 40116760	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	31282596		★★★★★ ★☆☆☆☆ Found in Text Mining only
Autistic behavior	Autism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	Pubtator	27616480, 31852446, 32645526, 34979703	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Autosomal recessive non-syndromic intellectual disability	Non-Syndromic Intellectual Disability	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Basal Ganglia Diseases	Basal ganglia disease	Pubtator	31282596	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Brain Diseases	Brain disease	Pubtator	37316513, 40116760	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	28674415, 30912093, 32762045, 34823063, 34949757, 37684433, 40065199	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	37316513	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	32180553	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	31851849		★★★★★ ★☆☆☆☆ Found in Text Mining only
Central visual impairment	Central Visual Impairment	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebral atrophy	Cerebral Atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	BEFREE	31546054		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cirrhosis	Cirrhosis	BEFREE	26482880, 26850495, 27575312, 28674415, 29535416		★★★★★ ★☆☆☆☆ Found in Text Mining only
Clumsiness - motor delay	Motor delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Complete atrioventricular block	Complete Atrioventricular Block	BEFREE	30116012		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cortical Dysplasia	Cortical Dysplasia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	31852446, 33513444, 34979703, 40116760	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	29483677		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	29483677		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	37424875	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	29535416		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dyskinetic syndrome	Dyskinetic Syndrome	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dyssomnias	Dyssomnia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsies Myoclonic	Myoclonic epilepsy	Pubtator	40116760	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	27616480, 34979703, 40116760	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Fatty Liver	Fatty Liver	BEFREE	27576208, 28594920, 29314568, 29485130, 29601441, 31755380		★★★★★ ★☆☆☆☆ Found in Text Mining only
Fatty Liver	Fatty liver	Pubtator	29485130, 32645526, 33513444, 35620859, 35881683, 36473860, 36555467, 37316513	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Fatty Liver Alcoholic	Fatty liver, alcoholic	Pubtator	40065199	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Febrile Convulsions	Febrile seizures	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Fibrosis, Liver	Liver Fibrosis	BEFREE	27630043, 29601441, 30116012		★★★★★ ★☆☆☆☆ Found in Text Mining only
Generalized myoclonic seizures	Myoclonic Seizures	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Generalized seizures	Seizure	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hepatitis B	Hepatitis b	Pubtator	30116012	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hepatitis B Chronic	Hepatitis b	Pubtator	28109005	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hepatitis C Chronic	Hepatitis c	Pubtator	27630043, 28109005	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoplasia of corpus callosum	Hypoplasia Of Corpus Callosum	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Insulin Resistance	Diabetes mellitus, type 2	Pubtator	29485130	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	27616480, 30959108, 31282596, 31852446, 32645526, 34979703, 36672789, 40116760	Associate	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual Disability	Mental retardation	BEFREE	30959108, 31282596		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual Disability	Mental retardation	HPO_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Liver carcinoma	Liver carcinoma	BEFREE	28674415, 29535416, 30506232, 31717576		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver Cirrhosis	BEFREE	26482880, 26850495, 27575312, 28674415, 29535416		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver cirrhosis	Pubtator	27630043, 40650184	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis Alcoholic	Liver cirrhosis	Pubtator	26482880, 27630043, 30875804	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis, Alcoholic	Alcoholic Liver Cirrhosis	CTD_human_DG	26482880		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Liver Cirrhosis, Alcoholic	Alcoholic Liver Cirrhosis	BEFREE	27630043		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Liver Diseases	Liver disease	Pubtator	30912093, 32443539, 32645526, 36371078, 37686209, 40650184	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver Diseases Alcoholic	Liver disease	Pubtator	28109005, 29485130	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver Failure	Liver failure	Pubtator	27836992	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	30191681		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mental Retardation	Mental retardation	BEFREE	30959108		★★★★★ ★☆☆☆☆ Found in Text Mining only
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 57	Mental retardation	GENOMICS_ENGLAND_DG	23097495		★★★★★ ★☆☆☆☆ Found in Text Mining only
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 57	Mental retardation	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 57	Mental retardation	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome	Metabolic syndrome	Pubtator	34503513, 37424875	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome X	Metabolic Syndrome	BEFREE	31851849		★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Mild Mental Retardation	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	36473860	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Moderate intellectual disability	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial infarction	Pubtator	35582424	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Non-alcoholic Fatty Liver Disease	Non-Alcoholic Fatty Liver Disease	BEFREE	26850495, 27411039, 27836992, 28674415, 29193269, 29314568, 29483677, 29485130, 29487372, 29572551, 29601441, 30659533, 30824369, 30959108, 31255630 View all (5 more)		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Obesity	Obesity	Pubtator	29485130, 37424875	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	31505904		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pediatric Obesity	Childhood obesity	BEFREE	29601441		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pena Shokeir syndrome type 1	Pena-shokeir syndrome	Pubtator	31282596	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Polymicrogyria	Polymicrogyria	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Pseudohyperkalemia Cardiff	Pseudohyperkalemia Cardiff	BEFREE	30116012		★★★★★ ★☆☆☆☆ Found in Text Mining only
Rhizomelic chondrodysplasia punctata type 2	Rhizomelic chondrodysplasia punctata	Pubtator	32645526	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Rhizomelic chondrodysplasia punctata type 2	Rhizomelic chondrodysplasia punctata	Pubtator	32645526	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Salaam Seizures	Salaam Seizures	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Seizures	Seizures	Pubtator	31282596, 31852446, 32645526, 40116760	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Severe intellectual disability	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Sleep Disorders	Sleep Disorders	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	BEFREE	27576208, 28594920, 29314568, 29485130, 29601441, 31755380		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stereotyped Behavior	Stereotyped Behavior	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	30191681		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	30191681	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	Pubtator	31282596	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

MBOAT7 (membrane bound acylglycerophosphatidylinositol O-acyltransferase MBOAT7)