LCAT (lecithin-cholesterol acyltransferase)

Gene

• Entrez ID: 3931
• Gene name: Lecithin-cholesterol acyltransferase
• Gene symbol: LCAT
• Synonyms (NCBI Gene): -
• Chromosome: 16
• Chromosome location: 16q22.1
• Summary: This gene encodes the extracellular cholesterol esterifying enzyme, lecithin-cholesterol acyltransferase. The esterification of cholesterol is required for cholesterol transport. Mutations in this gene have been found to cause fish-eye disease as well as

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs28940886	C>T	Pathogenic	Missense variant, coding sequence variant
rs28940887	G>A	Pathogenic	Missense variant, coding sequence variant
rs28940888	G>A,T	Pathogenic	Missense variant, coding sequence variant
rs28942087	A>G	Pathogenic	Missense variant, coding sequence variant
rs121908048	C>T	Pathogenic	Coding sequence variant, missense variant
rs121908049	G>T	Pathogenic	Coding sequence variant, missense variant
rs121908050	G>A	Pathogenic	Coding sequence variant, missense variant
rs121908053	G>A	Pathogenic	Coding sequence variant, missense variant
rs121908054	A>G,T	Pathogenic	Coding sequence variant, missense variant
rs121908055	G>A,T	Pathogenic	Synonymous variant, coding sequence variant, stop gained
rs121908056	AGG>-	Pathogenic	Inframe deletion, coding sequence variant
rs121908057	T>C	Pathogenic	Coding sequence variant, missense variant
rs140068549	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs267607211	A>G	Pathogenic	Missense variant, coding sequence variant
rs387906300	G>A	Pathogenic	Missense variant, coding sequence variant
rs776035233	C>T	Pathogenic	Coding sequence variant, missense variant
rs779114194	T>C	Pathogenic	Coding sequence variant, missense variant
rs794726662	->CGC	Pathogenic	Coding sequence variant, inframe insertion
rs794726663	->T	Pathogenic	Coding sequence variant, frameshift variant
rs794726664	A>G	Pathogenic	Intron variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT029711	hsa-miR-26b-5p	Microarray	19088304
MIRT711551	hsa-miR-6890-3p	HITS-CLIP	19536157
MIRT711550	hsa-miR-1304-3p	HITS-CLIP	19536157
MIRT711549	hsa-miR-8064	HITS-CLIP	19536157
MIRT711548	hsa-miR-6836-3p	HITS-CLIP	19536157
MIRT711547	hsa-miR-3152-5p	HITS-CLIP	19536157
MIRT711551	hsa-miR-6890-3p	HITS-CLIP	19536157
MIRT711550	hsa-miR-1304-3p	HITS-CLIP	19536157
MIRT711549	hsa-miR-8064	HITS-CLIP	19536157
MIRT711548	hsa-miR-6836-3p	HITS-CLIP	19536157
MIRT711547	hsa-miR-3152-5p	HITS-CLIP	19536157
MIRT711551	hsa-miR-6890-3p	HITS-CLIP	19536157
MIRT711550	hsa-miR-1304-3p	HITS-CLIP	19536157
MIRT711549	hsa-miR-8064	HITS-CLIP	19536157
MIRT711548	hsa-miR-6836-3p	HITS-CLIP	19536157
MIRT711547	hsa-miR-3152-5p	HITS-CLIP	19536157
MIRT711551	hsa-miR-6890-3p	HITS-CLIP	19536157
MIRT711550	hsa-miR-1304-3p	HITS-CLIP	19536157
MIRT711549	hsa-miR-8064	HITS-CLIP	19536157
MIRT711548	hsa-miR-6836-3p	HITS-CLIP	19536157
MIRT711547	hsa-miR-3152-5p	HITS-CLIP	19536157
MIRT711551	hsa-miR-6890-3p	HITS-CLIP	19536157
MIRT711550	hsa-miR-1304-3p	HITS-CLIP	19536157
MIRT711549	hsa-miR-8064	HITS-CLIP	19536157
MIRT711548	hsa-miR-6836-3p	HITS-CLIP	19536157
MIRT711547	hsa-miR-3152-5p	HITS-CLIP	19536157
MIRT711551	hsa-miR-6890-3p	HITS-CLIP	19536157
MIRT711550	hsa-miR-1304-3p	HITS-CLIP	19536157
MIRT711549	hsa-miR-8064	HITS-CLIP	19536157
MIRT711548	hsa-miR-6836-3p	HITS-CLIP	19536157
MIRT711547	hsa-miR-3152-5p	HITS-CLIP	19536157

Transcription factors

Transcription factor	Regulation	Reference
SP1	Unknown	9610763
SP3	Unknown	9610763
STAT3	Unknown	12032172

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003847	Function	1-alkyl-2-acetylglycerophosphocholine esterase activity	IDA	8016111
GO:0003847	Function	1-alkyl-2-acetylglycerophosphocholine esterase activity	IEA
GO:0004607	Function	Phosphatidylcholine-sterol O-acyltransferase activity	IBA
GO:0004607	Function	Phosphatidylcholine-sterol O-acyltransferase activity	IDA	3458198, 4335615, 10559507, 15654758, 26195816
GO:0004607	Function	Phosphatidylcholine-sterol O-acyltransferase activity	IEA
GO:0004607	Function	Phosphatidylcholine-sterol O-acyltransferase activity	NAS	11966470
GO:0004607	Function	Phosphatidylcholine-sterol O-acyltransferase activity	TAS
GO:0004623	Function	Phospholipase A2 activity	IEA
GO:0004771	Function	Sterol ester esterase activity	IDA	8016111
GO:0005515	Function	Protein binding	IPI	1587806, 11435418, 14967812, 15654758, 17676061, 32814053
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	TAS
GO:0005615	Component	Extracellular space	IBA
GO:0005615	Component	Extracellular space	IDA	3458198, 4335615, 8016111, 10559507
GO:0005615	Component	Extracellular space	IEA
GO:0006629	Process	Lipid metabolic process	IBA
GO:0006629	Process	Lipid metabolic process	IEA
GO:0006644	Process	Phospholipid metabolic process	IDA	4335615
GO:0006656	Process	Phosphatidylcholine biosynthetic process	IDA	11966470
GO:0006656	Process	Phosphatidylcholine biosynthetic process	IMP	12354767
GO:0008202	Process	Steroid metabolic process	IEA
GO:0008203	Process	Cholesterol metabolic process	IDA	10559507
GO:0008203	Process	Cholesterol metabolic process	IDA	3458198, 4335615, 15654758, 26195816
GO:0008203	Process	Cholesterol metabolic process	IEA
GO:0008203	Process	Cholesterol metabolic process	IEA
GO:0008374	Function	O-acyltransferase activity	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0016746	Function	Acyltransferase activity	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0030301	Process	Cholesterol transport	IDA	10559507
GO:0034186	Function	Apolipoprotein A-I binding	IPI	1587806
GO:0034364	Component	High-density lipoprotein particle	IDA	3104518
GO:0034372	Process	Very-low-density lipoprotein particle remodeling	IDA	15654758
GO:0034375	Process	High-density lipoprotein particle remodeling	IDA	4335615, 10722751, 12167653, 15210842
GO:0034375	Process	High-density lipoprotein particle remodeling	TAS
GO:0042157	Process	Lipoprotein metabolic process	IEA
GO:0042158	Process	Lipoprotein biosynthetic process	IEA
GO:0042632	Process	Cholesterol homeostasis	IDA	4335615
GO:0043691	Process	Reverse cholesterol transport	IDA	4335615
GO:0046222	Process	Aflatoxin metabolic process	IEA
GO:0046470	Process	Phosphatidylcholine metabolic process	IDA	15654758, 26195816
GO:0046688	Process	Response to copper ion	IEA
GO:0047179	Function	Platelet-activating factor acetyltransferase activity	IDA	8016111
GO:0047179	Function	Platelet-activating factor acetyltransferase activity	IEA
GO:0051384	Process	Response to glucocorticoid	IEA
GO:0070062	Component	Extracellular exosome	HDA	23533145
GO:0090107	Process	Regulation of high-density lipoprotein particle assembly	IEA

Other IDs

• MIM: 606967
• HGNC: 6522
• e!Ensembl: ENSG00000213398

Protein

• UniProt ID: P04180
• Protein name: Phosphatidylcholine-sterol acyltransferase (EC 2.3.1.43) (1-alkyl-2-acetylglycerophosphocholine esterase) (EC 3.1.1.47) (Lecithin-cholesterol acyltransferase) (Phospholipid-cholesterol acyltransferase) (Platelet-activating factor acetylhydrolase) (PAF ace
• Protein function: Central enzyme in the extracellular metabolism of plasma lipoproteins. Synthesized mainly in the liver and secreted into plasma where it converts cholesterol and phosphatidylcholines (lecithins) to cholesteryl esters and lysophosphatidylcholines
• PDB: 4X96, 4XWG, 4XX1, 5BV7, 5TXF, 6MVD
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF02450	LCAT	81 → 408	Lecithin:cholesterol acyltransferase	Family

• Tissue specificity: TISSUE SPECIFICITY: Detected in blood plasma (PubMed:10222237, PubMed:3458198, PubMed:8820107). Detected in cerebral spinal fluid (at protein level) (PubMed:10222237). Detected in liver (PubMed:3458198, PubMed:3797244). Expressed mainly in brain, liver an
• Sequence:

  MGPPGSPWQWVTLLLGLLLPPAAPFWLLNVLFPPHTTPKAELSNHTRPVILVPGCLGNQL
  EAKLDKPDVVNWMCYRKTEDFFTIWLDLNMFLPLGVDCWIDNTRVVYNRSSGLVSNAPGV
  QIRVPGFGKTYSVEYLDSSKLAGYLHTLVQNLVNNGYVRDETVRAAPYDWRLEPGQQEEY
  YRKLAGLVEEMHAAYGKPVFLIGHSLGCLHLLYFLLRQPQAWKDRFIDGFISLGAPWGGS
  IKPMLVLASGDNQGIPIMSSIKLKEEQRITTTSPWMFPSRMAWPEDHVFISTPSFNYTGR
  DFQRFFADLHFEEGWYMWLQSRDLLAGLPAPGVEVYCLYGVGLPTPRTYIYDHGFPYTDP
  VGVLYEDGDDTVATRSTELCGLWQGRQPQPVHLLPLHGIQHLNMVFSNLTLEHINAILLG
  AYRQGPPASPTASPEPPPPE

• Sequence length: 440

Pathways

KEGG:

Glycerophospholipid metabolism
Cholesterol metabolism

Reactome:

HDL remodeling

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
Cardiovascular phenotype	Likely pathogenic; Pathogenic	rs370803551, rs967875404, rs28940888	RCV002373478 RCV002362554 RCV006342070	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Fish-eye disease	Likely pathogenic; Pathogenic	rs2151319998, rs121908050, rs121908051, rs28940888, rs121908055, rs121908056, rs121908057, rs794726664, rs140068549	RCV005006315 RCV000003845 RCV000003847 RCV005016233 RCV002496248 RCV000003857 RCV000003858 RCV000003859 RCV002501012	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
LCAT deficiency	Pathogenic; Likely pathogenic	rs267607211, rs121908048, rs794726662, rs121908049, rs967875404, rs121908054, rs28942087, rs28940887, rs794726663, rs28940888, rs121908055, rs776035233, rs779114194, rs140068549	RCV000003841 RCV000003842 RCV000003843 RCV000003844 RCV000003846 RCV000003850 RCV000003851 RCV000003853 RCV000003854 RCV000003855 RCV000003856 RCV000782355 RCV000782356 RCV000779196	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
LCAT-related disorder	Pathogenic; Likely pathogenic	rs121908050, rs1461145750	RCV004754238 RCV003405840	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Norum disease	Likely pathogenic; Pathogenic	rs745320775, rs2151319998, rs121908050, rs121908051, rs28940888, rs121908055, rs2544406643, rs140068549	RCV001818098 RCV005006315 RCV002504739 RCV002504740 RCV005016233 RCV002496248 RCV003337889 RCV002501012	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ARTERIOSCLEROSIS	—	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
CROHN'S DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INFLAMMATORY BOWEL DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acute Coronary Syndrome	Coronary Syndrome	BEFREE	29570220, 30894011		★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	BEFREE	31164121		★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	CLINVAR_DG	31164121		★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	Pubtator	31164121	Associate	★☆☆☆☆ Found in Text Mining only
Anemia Sickle Cell	Sickle cell anemia	Pubtator	28436274	Associate	★☆☆☆☆ Found in Text Mining only
Anemia, Hemolytic	Anemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Anemia, Sickle Cell	Anemia	BEFREE	28436274		★☆☆☆☆ Found in Text Mining only
Arcus Senilis	Arcus Senilis	BEFREE	28682808		★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	10407490, 10601244, 10882342, 11111093, 11718688, 17113061, 18287885, 19303980, 25964513, 29222858, 29526535, 30518338, 9587674, 9930350		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atherosclerosis	Atherosclerosis	BEFREE	10407490, 10601244, 10882342, 11111093, 11718688, 17113061, 18287885, 19303980, 25964513, 29222858, 29526535, 30518338, 9587674, 9930350		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	LHGDN	16061733, 18782872		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	Pubtator	22133847, 29748187, 30333156	Associate	★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial Fibrillation	BEFREE	31069509		★☆☆☆☆ Found in Text Mining only
Bloom Syndrome	Bloom Syndrome	BEFREE	6859101		★☆☆☆☆ Found in Text Mining only
Bone Diseases	Bone disease	Pubtator	35235770	Inhibit	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	31695766, 32813933, 34034705, 34147074, 35196258, 36894886, 37215201, 39380994, 40389832, 40500772	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	28664912		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	22133847, 23078883, 29307006		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular disease	Pubtator	23078883, 27112635	Associate	★☆☆☆☆ Found in Text Mining only
Carotid Atherosclerosis	Carotid Atherosclerosis	BEFREE	22133847		★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Cerebral Infarction	LHGDN	16883530		★☆☆☆☆ Found in Text Mining only
Charcot-Marie-Tooth Disease	Charcot-Marie-Tooth Disease	BEFREE	185334		★☆☆☆☆ Found in Text Mining only
Cholestatic liver disease	Cholestatic liver disease	BEFREE	11018467		★☆☆☆☆ Found in Text Mining only
Cholesteryl Ester Transfer Protein Deficiency	Hyperalphalipoproteinemia	BEFREE	7744879, 8462178, 8621767		★☆☆☆☆ Found in Text Mining only
Chronic kidney disease stage 5	Kidney Disease	BEFREE	18397721, 21955868		★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	BEFREE	18397721, 21955868, 30857306		★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	30342531		★☆☆☆☆ Found in Text Mining only
Corneal Dystrophies Hereditary	Corneal dystrophy	Pubtator	10869098	Associate	★☆☆☆☆ Found in Text Mining only
Corneal Opacity	Corneal opacity	Pubtator	31164121	Associate	★☆☆☆☆ Found in Text Mining only
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	15110745, 21597230, 21875686		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	12607113, 21597230, 21875686		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	LHGDN	12673583		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	Pubtator	8675648	Associate	★☆☆☆☆ Found in Text Mining only
Coronary Disease	Coronary artery disease	Pubtator	30479275	Associate	★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	21597230, 21875686, 24785961		★☆☆☆☆ Found in Text Mining only
De Barsy syndrome	De barsy syndrome	Pubtator	8445342	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	10412780	Inhibit	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	30055622, 8820100	Associate	★☆☆☆☆ Found in Text Mining only
Dry Eye Syndromes	Dry Eye Syndromes	BEFREE	30394912		★☆☆☆☆ Found in Text Mining only
Dyslipidemias	Dyslipidemias	BEFREE	15110745, 20861163		★☆☆☆☆ Found in Text Mining only
Dyslipidemias	Dyslipidemias	Pubtator	28315561, 29084231, 29758034	Associate	★☆☆☆☆ Found in Text Mining only
Familial LCAT deficiency	LCAT Deficiency	BEFREE	11718688, 15115696, 16051254, 17439325, 1859405, 19687369, 21597230, 22658148, 30506915, 31103331, 31164121, 6762928, 7115467, 7152525, 7327552, 8318557, 9162740		★☆☆☆☆ Found in Text Mining only
Familial LCAT deficiency	LCAT Deficiency	Orphanet			★☆☆☆☆ Found in Text Mining only
Fish-Eye Disease	Fish-Eye Disease	BEFREE	15115696, 1571050, 16216249, 2052566, 24876348, 2823801, 30394912, 30506915, 7658168, 8326012, 8445345, 8620346, 8755645, 8820100, 9160810, 9162740, 9261271		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Fish-Eye Disease	Fish-Eye Disease	UNIPROT_DG	1516702, 1571050, 15994445, 1737840, 21901787, 8620346, 9261271		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Fish-Eye Disease	Fish-Eye Disease	GENOMICS_ENGLAND_DG	1681161, 27604308		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Fish-Eye Disease	Fish-Eye Disease	ORPHANET_DG	9162740		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Fish-eye disease	Fish-Eye Disease	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Fish-Eye Disease	Fish-Eye Disease	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Fish-Eye Disease	Fish-Eye Disease	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Glomerulonephritis Membranous	Membranous glomerulonephritis	Pubtator	37511514	Associate	★☆☆☆☆ Found in Text Mining only
Glomerulosclerosis (disorder)	Glomerulosclerosis	BEFREE	11423760		★☆☆☆☆ Found in Text Mining only
Hdl Deficiency, Type 2	Hypoalphalipoproteinemia	BEFREE	16115486		★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	30342531		★☆☆☆☆ Found in Text Mining only
Hemolytic Uremic Syndrome	Hemolytic uremic syndrome	Pubtator	10412780	Inhibit	★☆☆☆☆ Found in Text Mining only
Hemolytic Uremic Syndrome	Hemolytic uremic syndrome	Pubtator	6482172	Associate	★☆☆☆☆ Found in Text Mining only
Hereditary Motor and Sensory Neuropathies	Hereditary motor and sensory neuropathy	BEFREE	185334		★☆☆☆☆ Found in Text Mining only
Hydrocephalus Normal Pressure	Normal pressure hydrocephalus	Pubtator	34360799	Associate	★☆☆☆☆ Found in Text Mining only
Hypercholesterolemia	Hypercholesterolemia	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Hypercholesterolemia, Familial	Hypercholesterolemia	BEFREE	10998472, 884862		★☆☆☆☆ Found in Text Mining only
Hyperlipidemia	Hyperlipidemia	LHGDN	12139471		★☆☆☆☆ Found in Text Mining only
Hyperlipidemia	Hyperlipidemia	BEFREE	30031400		★☆☆☆☆ Found in Text Mining only
Hyperlipidemia, Familial Combined	Hyperlipidemia	BEFREE	15469419		★☆☆☆☆ Found in Text Mining only
Hyperlipoproteinemia Type I	Hyperlipoproteinemia	BEFREE	10067265, 8989507		★☆☆☆☆ Found in Text Mining only
Hyperlipoproteinemia Type II	Hyperlipoproteinemia	Pubtator	27112635	Associate	★☆☆☆☆ Found in Text Mining only
Hyperlipoproteinemia Type IIa	Hyperlipoproteinemia	BEFREE	10998472		★☆☆☆☆ Found in Text Mining only
Hyperlipoproteinemias	Hyperlipoproteinemia	BEFREE	11730818		★☆☆☆☆ Found in Text Mining only
Hypertriglyceridemia	Hypertriglyceridemia	Pubtator	26687706	Associate	★☆☆☆☆ Found in Text Mining only
Hypoalphalipoproteinemia, Familial	Hypoalphalipoproteinemia	BEFREE	21875686		★☆☆☆☆ Found in Text Mining only
Hypoalphalipoproteinemias	Hypoalphalipoproteinemia	BEFREE	16115486, 31164121		★☆☆☆☆ Found in Text Mining only
Hypoalphalipoproteinemias	Hypoalphalipoproteinemia	Pubtator	1737840, 22658148, 30333156, 31164121	Associate	★☆☆☆☆ Found in Text Mining only
Hypobetalipoproteinemias	Hypoalphalipoproteinemia	Pubtator	22658148	Associate	★☆☆☆☆ Found in Text Mining only
Hypocholesterolemia	Hypocholesterolemia	BEFREE	29937398		★☆☆☆☆ Found in Text Mining only
Hypogonadism	Hypogonadism	Pubtator	25565309	Associate	★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	37481543	Associate	★☆☆☆☆ Found in Text Mining only
Inborn Errors of Metabolism	Inborn Errors Of Metabolism	BEFREE	3661502		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	BEFREE	23522979		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney disease	Pubtator	28576974	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Failure	Kidney Failure	BEFREE	17439325, 18397721		★☆☆☆☆ Found in Text Mining only
Kidney Failure, Chronic	Kidney Failure	BEFREE	18397721, 21955868		★☆☆☆☆ Found in Text Mining only
Lecithin Acyltransferase Deficiency	Lecithin Acyltransferase Deficiency	BEFREE	11423760, 16051254, 16216249, 17183024, 19687369, 21597230, 22326749, 23522979, 23912995, 2823801, 3338256, 4005283, 6859101, 7294021, 7327552, 8326012, 8445342, 8656071, 9054454, 9555046		★☆☆☆☆ Found in Text Mining only
Lecithin Acyltransferase Deficiency	Lecithin Acyltransferase Deficiency	UNIPROT_DG	11423760, 12957688, 15994445, 16051254, 16216249, 1681161, 1859405, 2370048, 7607641, 7711728, 8318557, 8432868, 8807342, 9007616, 9741700		★☆☆☆☆ Found in Text Mining only
Lecithin Acyltransferase Deficiency	Lecithin Acyltransferase Deficiency	LHGDN	15936482		★☆☆☆☆ Found in Text Mining only
Lecithin Acyltransferase Deficiency	Lecithin Acyltransferase Deficiency	GENOMICS_ENGLAND_DG	1681161, 27604308, 6078131		★☆☆☆☆ Found in Text Mining only
Lecithin Acyltransferase Deficiency	Lecithin Acyltransferase Deficiency	CLINVAR_DG	22701329, 31164121, 9261271		★☆☆☆☆ Found in Text Mining only
Lecithin Acyltransferase Deficiency	Lecithin Acyltransferase Deficiency	ORPHANET_DG	9162740		★☆☆☆☆ Found in Text Mining only
Lecithin Acyltransferase Deficiency	Lecithin Acyltransferase Deficiency	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Lipid Metabolism Disorders	Lipid Metabolism Disorders	BEFREE	7658168		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	CTD_human_DG	28284560		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver cirrhosis	Pubtator	35235770	Associate	★☆☆☆☆ Found in Text Mining only
Liver Diseases	Liver disease	Pubtator	35235770	Associate	★☆☆☆☆ Found in Text Mining only
Liver Failure	Liver failure	Pubtator	35235770	Inhibit	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	32678854	Associate	★☆☆☆☆ Found in Text Mining only
Macular corneal dystrophy	Macular Corneal Dystrophy	BEFREE	10869098		★☆☆☆☆ Found in Text Mining only
Macular Degeneration	Macular degeneration	Pubtator	37447314	Associate	★☆☆☆☆ Found in Text Mining only
Macular dystrophy, corneal type 1	Macular corneal dystrophy	BEFREE	10869098		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	28664912		★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic Diseases	BEFREE	22326749		★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic syndrome	Pubtator	29084231, 35598637	Associate	★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome	Metabolic syndrome	Pubtator	30055622	Associate	★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome X	Metabolic Syndrome	BEFREE	26232163, 27488210		★☆☆☆☆ Found in Text Mining only
Nephritis Interstitial	Interstitial nephritis	Pubtator	25565309	Associate	★☆☆☆☆ Found in Text Mining only
Nephrotic Syndrome	Nephrotic Syndrome	BEFREE	29937398		★☆☆☆☆ Found in Text Mining only
Nephrotic Syndrome	Nephrotic syndrome	Pubtator	37511514	Stimulate	★☆☆☆☆ Found in Text Mining only
Non-alcoholic Fatty Liver Disease	Non-Alcoholic Fatty Liver Disease	BEFREE	30076407		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	22326749, 26232163		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	29758034	Associate	★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	Pubtator	37447314	Associate	★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	28664912		★☆☆☆☆ Found in Text Mining only
Proteinuria	Proteinuria	Pubtator	8445342	Associate	★☆☆☆☆ Found in Text Mining only
Pseudohypoparathyroidism	Pseudohypoparathyroidism	Pubtator	35235770	Associate	★☆☆☆☆ Found in Text Mining only
Renal Insufficiency	Renal Insufficiency	BEFREE	11423760		★☆☆☆☆ Found in Text Mining only
Renal Insufficiency	Renal Insufficiency	HPO_DG			★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	12697270		★☆☆☆☆ Found in Text Mining only
Rhinitis Allergic	Rhinitis	Pubtator	31185305	Associate	★☆☆☆☆ Found in Text Mining only
ST segment elevation myocardial infarction	ST Segment Elevation Myocardial Infarction	BEFREE	30894011		★☆☆☆☆ Found in Text Mining only
Tangier Disease	Tangier Disease	BEFREE	9731541		★☆☆☆☆ Found in Text Mining only