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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	4023
Gene name	Lipoprotein lipase
Gene symbol	LPL
Synonyms (NCBI Gene)	HDLCQ11LIPD
Chromosome	8
Chromosome location	8p21.3
Summary	LPL encodes lipoprotein lipase, which is expressed in heart, muscle, and adipose tissue. LPL functions as a homodimer, and has the dual functions of triglyceride hydrolase and ligand/bridging factor for receptor-mediated lipoprotein uptake. Severe mutatio

Show/Hide all (41)

SNP ID	Visualize variation	Clinical significance	Consequence
rs268	A>G	Pathogenic, uncertain-significance, risk-factor	Missense variant, coding sequence variant
rs1801177	G>A,C	Other, benign-likely-benign, likely-benign, risk-factor	Missense variant, coding sequence variant
rs11542065	C>G,T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, missense variant
rs118204056	G>A	Pathogenic	Missense variant, coding sequence variant
rs118204057	G>A,C	Pathogenic	Missense variant, coding sequence variant
rs118204058	C>G,T	Pathogenic	Missense variant, stop gained, coding sequence variant
rs118204059	T>A	Pathogenic	Missense variant, coding sequence variant
rs118204060	C>T	Pathogenic	Missense variant, coding sequence variant
rs118204061	T>C	Pathogenic	Missense variant, coding sequence variant
rs118204062	G>A	Pathogenic	Missense variant, coding sequence variant
rs118204063	G>A	Pathogenic	Missense variant, coding sequence variant
rs118204064	A>G	Pathogenic	Missense variant, coding sequence variant
rs118204065	T>A	Pathogenic	Stop gained, coding sequence variant
rs118204066	G>A	Pathogenic	Stop gained, coding sequence variant
rs118204067	C>G	Pathogenic	Missense variant, coding sequence variant
rs118204068	G>A	Pathogenic	Missense variant, coding sequence variant
rs118204069	T>C	Pathogenic	Missense variant, coding sequence variant
rs118204070	G>A	Pathogenic	Stop gained, coding sequence variant
rs118204071	G>A	Pathogenic	Missense variant, coding sequence variant
rs118204072	C>G,T	Pathogenic	Missense variant, coding sequence variant
rs118204073	A>C	Pathogenic	Missense variant, coding sequence variant
rs118204074	C>A,T	Pathogenic	Synonymous variant, stop gained, coding sequence variant
rs118204075	G>A	Pathogenic	Missense variant, coding sequence variant
rs118204076	C>G,T	Pathogenic	Synonymous variant, missense variant, coding sequence variant
rs118204077	C>T	Pathogenic	Missense variant, coding sequence variant
rs118204078	C>G	Pathogenic	Missense variant, coding sequence variant
rs118204079	G>A	Pathogenic	Missense variant, coding sequence variant
rs118204080	T>C	Pathogenic	Missense variant, coding sequence variant
rs118204081	C>A	Pathogenic	Stop gained, coding sequence variant
rs118204082	C>G,T	Likely-benign, pathogenic	Synonymous variant, missense variant, coding sequence variant
rs372668179	G>A,T	Pathogenic	Missense variant, coding sequence variant
rs766134215	G>C,T	Pathogenic	Splice donor variant
rs886037774	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs886037775	A>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1064797075	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1297688787	C>T	Pathogenic	Coding sequence variant, stop gained
rs1554517725	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1563569634	G>A	Pathogenic	Splice donor variant
rs1563572716	G>A	Pathogenic	Splice acceptor variant
rs1563575252	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1590134297	G>A	Pathogenic	Stop gained, coding sequence variant

Show/Hide all (92)

miRTarBase ID	miRNA	Experiments	Reference
MIRT001542	hsa-miR-155-5p	pSILAC	18668040
MIRT005491	hsa-miR-138-5p	qRT-PCR	20486779
MIRT005584	hsa-miR-29a-3p	ELISALuciferase reporter assayqRT-PCRWestern blot	21276447
MIRT019335	hsa-miR-148b-3p	Microarray	17612493
MIRT001542	hsa-miR-155-5p	Proteomics;Other	18668040
MIRT032343	hsa-let-7b-5p	Proteomics	18668040
MIRT616693	hsa-miR-3130-3p	HITS-CLIP	23824327
MIRT616692	hsa-miR-4793-3p	HITS-CLIP	23824327
MIRT616691	hsa-miR-767-5p	HITS-CLIP	23824327
MIRT616690	hsa-miR-544a	HITS-CLIP	23824327
MIRT616689	hsa-miR-6738-3p	HITS-CLIP	23824327
MIRT616693	hsa-miR-3130-3p	HITS-CLIP	23824327
MIRT616692	hsa-miR-4793-3p	HITS-CLIP	23824327
MIRT616691	hsa-miR-767-5p	HITS-CLIP	23824327
MIRT616690	hsa-miR-544a	HITS-CLIP	23824327
MIRT616689	hsa-miR-6738-3p	HITS-CLIP	23824327
MIRT616693	hsa-miR-3130-3p	HITS-CLIP	23824327
MIRT616692	hsa-miR-4793-3p	HITS-CLIP	23824327
MIRT616691	hsa-miR-767-5p	HITS-CLIP	23824327
MIRT616690	hsa-miR-544a	HITS-CLIP	23824327
MIRT616689	hsa-miR-6738-3p	HITS-CLIP	23824327
MIRT616693	hsa-miR-3130-3p	HITS-CLIP	23824327
MIRT616692	hsa-miR-4793-3p	HITS-CLIP	23824327
MIRT616691	hsa-miR-767-5p	HITS-CLIP	23824327
MIRT616690	hsa-miR-544a	HITS-CLIP	23824327
MIRT616689	hsa-miR-6738-3p	HITS-CLIP	23824327
MIRT005491	hsa-miR-138-5p	Next Generation Sequencing (NGS)qRT-PCR	27762728
MIRT005491	hsa-miR-138-5p	Next Generation Sequencing (NGS)qRT-PCR	27762728
MIRT005491	hsa-miR-138-5p	Luciferase reporter assayWestern blottingqRT-PCR	31769250
MIRT616693	hsa-miR-3130-3p	HITS-CLIP	23824327
MIRT616692	hsa-miR-4793-3p	HITS-CLIP	23824327
MIRT616691	hsa-miR-767-5p	HITS-CLIP	23824327
MIRT616690	hsa-miR-544a	HITS-CLIP	23824327
MIRT616689	hsa-miR-6738-3p	HITS-CLIP	23824327
MIRT616693	hsa-miR-3130-3p	HITS-CLIP	23824327
MIRT616692	hsa-miR-4793-3p	HITS-CLIP	23824327
MIRT616691	hsa-miR-767-5p	HITS-CLIP	23824327
MIRT616690	hsa-miR-544a	HITS-CLIP	23824327
MIRT616689	hsa-miR-6738-3p	HITS-CLIP	23824327
MIRT616693	hsa-miR-3130-3p	HITS-CLIP	23824327
MIRT616692	hsa-miR-4793-3p	HITS-CLIP	23824327
MIRT616691	hsa-miR-767-5p	HITS-CLIP	23824327
MIRT616690	hsa-miR-544a	HITS-CLIP	23824327
MIRT616689	hsa-miR-6738-3p	HITS-CLIP	23824327
MIRT616693	hsa-miR-3130-3p	HITS-CLIP	23824327
MIRT616692	hsa-miR-4793-3p	HITS-CLIP	23824327
MIRT616691	hsa-miR-767-5p	HITS-CLIP	23824327
MIRT616690	hsa-miR-544a	HITS-CLIP	23824327
MIRT616689	hsa-miR-6738-3p	HITS-CLIP	23824327
MIRT755670	hsa-miR-27a-3p	Luciferase reporter assayWestern blottingqRT-PCR	34831427
MIRT1116487	hsa-miR-1279	CLIP-seq
MIRT1116488	hsa-miR-1298	CLIP-seq
MIRT1116489	hsa-miR-155	CLIP-seq
MIRT1116490	hsa-miR-1912	CLIP-seq
MIRT1116491	hsa-miR-204	CLIP-seq
MIRT1116492	hsa-miR-211	CLIP-seq
MIRT1116493	hsa-miR-23a	CLIP-seq
MIRT1116494	hsa-miR-23b	CLIP-seq
MIRT1116495	hsa-miR-23c	CLIP-seq
MIRT1116496	hsa-miR-27a	CLIP-seq
MIRT1116497	hsa-miR-27b	CLIP-seq
MIRT1116498	hsa-miR-3130-5p	CLIP-seq
MIRT1116499	hsa-miR-3620	CLIP-seq
MIRT1116500	hsa-miR-3664-5p	CLIP-seq
MIRT1116501	hsa-miR-3682-5p	CLIP-seq
MIRT1116502	hsa-miR-371-5p	CLIP-seq
MIRT1116503	hsa-miR-3913-3p	CLIP-seq
MIRT1116504	hsa-miR-3919	CLIP-seq
MIRT1116505	hsa-miR-3925-5p	CLIP-seq
MIRT1116506	hsa-miR-412	CLIP-seq
MIRT1116507	hsa-miR-4292	CLIP-seq
MIRT1116508	hsa-miR-4436b-5p	CLIP-seq
MIRT1116509	hsa-miR-4446-5p	CLIP-seq
MIRT1116510	hsa-miR-4482	CLIP-seq
MIRT1116511	hsa-miR-452	CLIP-seq
MIRT1116512	hsa-miR-4676-3p	CLIP-seq
MIRT1116513	hsa-miR-4691-5p	CLIP-seq
MIRT1116514	hsa-miR-4714-5p	CLIP-seq
MIRT1116515	hsa-miR-4717-3p	CLIP-seq
MIRT1116516	hsa-miR-4755-5p	CLIP-seq
MIRT1116517	hsa-miR-4795-3p	CLIP-seq
MIRT1116518	hsa-miR-489	CLIP-seq
MIRT1116519	hsa-miR-501-3p	CLIP-seq
MIRT1116520	hsa-miR-502-3p	CLIP-seq
MIRT1116521	hsa-miR-513a-5p	CLIP-seq
MIRT1116522	hsa-miR-514	CLIP-seq
MIRT1116523	hsa-miR-514b-3p	CLIP-seq
MIRT1116524	hsa-miR-569	CLIP-seq
MIRT1116525	hsa-miR-623	CLIP-seq
MIRT1116496	hsa-miR-27a	CLIP-seq
MIRT1116497	hsa-miR-27b	CLIP-seq
MIRT2032885	hsa-miR-873	CLIP-seq

Show/Hide all (7)

Transcription factor	Regulation	Reference
NFKB1	Activation	20200316
PPARA	Activation	10634806
PPARD	Activation	10634806
RELA	Activation	20200316
SP1	Unknown	18793716;9788252
SP3	Activation	9788252
SP3	Unknown	18793716

Show/Hide all (95)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001523	Process	Retinoid metabolic process	IEA
GO:0004465	Function	Lipoprotein lipase activity	IBA
GO:0004465	Function	Lipoprotein lipase activity	IDA	2110364, 2340307, 3973011, 11342582, 27578112, 30559189
GO:0004465	Function	Lipoprotein lipase activity	IEA
GO:0004465	Function	Lipoprotein lipase activity	IMP	25149060
GO:0004465	Function	Lipoprotein lipase activity	ISS	10727238
GO:0004620	Function	Phospholipase activity	ISS	10727238
GO:0004806	Function	Triacylglycerol lipase activity	IDA	182536, 7592706, 12032167, 12573449
GO:0004806	Function	Triacylglycerol lipase activity	IEA
GO:0004806	Function	Triacylglycerol lipase activity	ISS	10727238
GO:0005102	Function	Signaling receptor binding	IPI	10085125
GO:0005509	Function	Calcium ion binding	IDA	16179346, 30559189
GO:0005515	Function	Protein binding	IPI	7417307, 19542565, 20124439, 21385844, 30559189, 32814053
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	TAS
GO:0005615	Component	Extracellular space	HDA	16502470
GO:0005615	Component	Extracellular space	IBA
GO:0005615	Component	Extracellular space	IDA	2340307, 11342582, 12573449, 27578112, 30559189
GO:0005615	Component	Extracellular space	IEA
GO:0005886	Component	Plasma membrane	IEA
GO:0006629	Process	Lipid metabolic process	IEA
GO:0006631	Process	Fatty acid metabolic process	IDA	11342582, 27578112
GO:0006633	Process	Fatty acid biosynthetic process	IBA
GO:0006633	Process	Fatty acid biosynthetic process	IC	3973011
GO:0006633	Process	Fatty acid biosynthetic process	IDA	182536
GO:0006633	Process	Fatty acid biosynthetic process	ISS
GO:0006641	Process	Triglyceride metabolic process	IEA
GO:0006641	Process	Triglyceride metabolic process	IMP	12573449
GO:0006641	Process	Triglyceride metabolic process	ISS	10727238
GO:0006644	Process	Phospholipid metabolic process	ISS	10727238
GO:0008201	Function	Heparin binding	IDA	2110364, 11342582, 12573449
GO:0008201	Function	Heparin binding	IEA
GO:0008201	Function	Heparin binding	TAS	1969408
GO:0008970	Function	Phospholipase A1 activity	IBA
GO:0008970	Function	Phospholipase A1 activity	IDA	7592706, 12032167
GO:0008970	Function	Phospholipase A1 activity	IEA
GO:0009617	Process	Response to bacterium	IEA
GO:0009749	Process	Response to glucose	ISS
GO:0009986	Component	Cell surface	IEA
GO:0010744	Process	Positive regulation of macrophage derived foam cell differentiation	IEA
GO:0010744	Process	Positive regulation of macrophage derived foam cell differentiation	IMP	12573449
GO:0010884	Process	Positive regulation of lipid storage	TAS	24608080
GO:0010886	Process	Positive regulation of cholesterol storage	IMP	12573449
GO:0016020	Component	Membrane	IEA
GO:0016042	Process	Lipid catabolic process	IEA
GO:0016298	Function	Lipase activity	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0019433	Process	Triglyceride catabolic process	IBA
GO:0019433	Process	Triglyceride catabolic process	IDA	182536, 2110364, 2340307, 3973011, 11342582, 27578112, 30559189
GO:0019433	Process	Triglyceride catabolic process	IEA
GO:0019433	Process	Triglyceride catabolic process	ISS
GO:0031670	Process	Cellular response to nutrient	IEA
GO:0031670	Process	Cellular response to nutrient	ISS
GO:0032722	Process	Positive regulation of chemokine production	IMP	25149060
GO:0032731	Process	Positive regulation of interleukin-1 beta production	IEA
GO:0032731	Process	Positive regulation of interleukin-1 beta production	ISS
GO:0032755	Process	Positive regulation of interleukin-6 production	IEA
GO:0032755	Process	Positive regulation of interleukin-6 production	ISS
GO:0032760	Process	Positive regulation of tumor necrosis factor production	IEA
GO:0032760	Process	Positive regulation of tumor necrosis factor production	ISS
GO:0034185	Function	Apolipoprotein binding	IBA
GO:0034185	Function	Apolipoprotein binding	IPI	15178420
GO:0034361	Component	Very-low-density lipoprotein particle	IEA
GO:0034371	Process	Chylomicron remodeling	IC	3973011
GO:0034371	Process	Chylomicron remodeling	IMP	11342582
GO:0034372	Process	Very-low-density lipoprotein particle remodeling	IBA
GO:0034372	Process	Very-low-density lipoprotein particle remodeling	IDA	3973011
GO:0034372	Process	Very-low-density lipoprotein particle remodeling	IMP	12573449
GO:0034372	Process	Very-low-density lipoprotein particle remodeling	ISS
GO:0034375	Process	High-density lipoprotein particle remodeling	IBA
GO:0034447	Process	Very-low-density lipoprotein particle clearance	IEA
GO:0034447	Process	Very-low-density lipoprotein particle clearance	ISS	15178420
GO:0042627	Component	Chylomicron	IEA
GO:0042632	Process	Cholesterol homeostasis	IBA
GO:0042632	Process	Cholesterol homeostasis	IMP	25149060
GO:0042803	Function	Protein homodimerization activity	IDA	16179346
GO:0043395	Function	Heparan sulfate proteoglycan binding	IMP	11342582
GO:0043495	Function	Protein-membrane adaptor activity	TAS	24608080
GO:0045600	Process	Positive regulation of fat cell differentiation	IMP	29794473, 31769250
GO:0046872	Function	Metal ion binding	IEA
GO:0050729	Process	Positive regulation of inflammatory response	IEA
GO:0050729	Process	Positive regulation of inflammatory response	IMP	25149060
GO:0050729	Process	Positive regulation of inflammatory response	ISS
GO:0052689	Function	Carboxylic ester hydrolase activity	IEA
GO:0055096	Process	Low-density lipoprotein particle mediated signaling	IMP	25149060
GO:0070328	Process	Triglyceride homeostasis	IGI	17018885
GO:0070328	Process	Triglyceride homeostasis	NAS	30559189
GO:0071398	Process	Cellular response to fatty acid	IEA
GO:0071398	Process	Cellular response to fatty acid	ISS
GO:0071813	Function	Lipoprotein particle binding	IDA	11342582
GO:1902494	Component	Catalytic complex	IPI	30559189
GO:1904179	Process	Positive regulation of adipose tissue development	IMP	31769250
GO:2000343	Process	Positive regulation of chemokine (C-X-C motif) ligand 2 production	IEA
GO:2000343	Process	Positive regulation of chemokine (C-X-C motif) ligand 2 production	ISS

MIM	HGNC	e!Ensembl
609708	6677	ENSG00000175445

P06858

Protein name

Lipoprotein lipase (LPL) (EC 3.1.1.34) (Phospholipase A1) (EC 3.1.1.32)

Protein function

Key enzyme in triglyceride metabolism. Catalyzes the hydrolysis of triglycerides from circulating chylomicrons and very low density lipoproteins (VLDL), and thereby plays an important role in lipid clearance from the blood stream, lipid utilizat

PDB

6E7K , 6OAU , 6OAZ , 6OB0 , 6WN4

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00151	Lipase	17 → 338	Lipase	Domain
PF01477	PLAT	343 → 463	PLAT/LH2 domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Detected in blood plasma (PubMed:11893776, PubMed:12641539, PubMed:2340307). Detected in milk (at protein level) (PubMed:2340307). {ECO:0000269|PubMed:11893776, ECO:0000269|PubMed:12641539, ECO:0000269|PubMed:2340307}.

Sequence

MESKALLVLTLAVWLQSLTASRGGVAAADQRRDFIDIESKFALRTPEDTAEDTCHLIPGV
AESVATCHFNHSSKTFMVIHGWTVTGMYESWVPKLVAALYKREPDSNVIVVDWLSRAQEH
YPVSAGYTKLVGQDVARFINWMEEEFNYPLDNVHLLGYSLGAHAAGIAGSLTNKKVNRIT
GLDPAGPNFEYAEAPSRLSPDDADFVDVLHTFTRGSPGRSIGIQKPVGHVDIYPNGGTFQ
PGCNIGEAIRVIAERGLGDVDQLVKCSHERSIHLFIDSLLNEENPSKAYRCSSKEAFEKG
LCLSCRKNRCNNLGYEINKVRAKRSSKMYLKTRSQMPYKVFHYQVKIHFSGTESETHTNQ
AFEISLYGTVAESENIPFTLPEVSTNKTYSFLIYTEVDIGELLMLKLKWKSDSYFSWSDW
WSSPGFAIQKIRVKAGETQKKVIFCSREKVSHLQKGKAPAVFVKCHDKSLNKKSG

Sequence length

475

Interactions

View interactions

	KEGG		Reactome
	Glycerolipid metabolism PPAR signaling pathway Cholesterol metabolism Alzheimer disease		Transcriptional regulation of white adipocyte differentiation Assembly of active LPL and LIPC lipase complexes Chylomicron remodeling Retinoid metabolism and transport

604

Show/Hide Causal Diseases (6)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Cardiovascular phenotype	Pathogenic; Likely pathogenic	rs761886494, rs145657341, rs373088068, rs762007406, rs768128481, rs2128839625, rs372668179, rs1416098529, rs2128839190, rs118204057, rs118204060, rs118204062, rs1563569634, rs118204065, rs118204068 View all (10 more)	RCV002420853 RCV002440807 RCV005660151 RCV003299025 RCV002352679 RCV005370042 RCV005654901 RCV002343994 RCV002352653 RCV002362549 RCV002362550 RCV002415385 RCV002426478 RCV002453245 RCV002426479 RCV005589768 RCV002415386 RCV002352961 RCV002359886 RCV002385709 RCV004278842 RCV004369267 RCV004031932 RCV004031763 RCV002322168
Hyperlipidemia, familial combined, LPL related	Likely pathogenic; Pathogenic	rs781614031, rs145657341, rs762007406, rs2128838185, rs2128839227, rs118204057, rs118204060, rs118204062, rs1563569634, rs118204066, rs118204068, rs118204069, rs118204070, rs118204071, rs118204077 View all (13 more)	RCV002246352 RCV002501917 RCV002246536 RCV002490029 RCV005042469 RCV000763181 RCV001253353 RCV001248901 RCV001537867 RCV002504736 RCV002476909 RCV001197456 RCV001813730 RCV002247233 RCV005049311 RCV005041965 RCV002249096 RCV002250095 RCV002250097 RCV002250099 RCV004690276 RCV002466920 RCV003991301 RCV003992029 RCV005040701 RCV000487457 RCV002505628 RCV001537868
Hyperlipoproteinemia, type I	Likely pathogenic; Pathogenic	rs2069982771, rs781614031, rs761886494, rs145657341, rs775728208, rs2128838194, rs762007406, rs2128838185, rs2128839190, rs2128839227, rs118204056, rs118204057, rs118204058, rs118204059, rs1563572716 View all (42 more)	RCV001332300 RCV001732177 RCV001831346 RCV001827495 RCV001580615 RCV001619762 RCV001823501 RCV002490029 RCV003994365 RCV005042469 RCV000001583 RCV000001586 RCV000001588 RCV000001589 RCV000001590 RCV000001591 RCV000001592 RCV000001594 RCV000001595 RCV000001596 RCV000001597 RCV000001599 RCV000001600 RCV000001601 RCV000001602 RCV000001604 RCV000001605 RCV000001606 RCV000001607 RCV000001608 RCV000001609 RCV000001610 RCV000001611 RCV000001612 RCV000001613 RCV000001616 RCV000001618 RCV000001619 RCV000001621 RCV000001623 RCV003988878 RCV002260532 RCV003314049 RCV000258506 RCV003127194 RCV003127227 RCV005616618 RCV003333683 RCV005931448 RCV004546805 RCV004587947 RCV000625872 RCV002505628 RCV001809969 RCV001250243 RCV001250245 RCV001257912 RCV001526865
Lipase deficiency, combined	Likely pathogenic; Pathogenic	rs2069982771	RCV003987837
LIPOPROTEIN LIPASE (OLBIA)	Pathogenic	rs118204081	RCV000001622
LPL-related disorder	Likely pathogenic; Pathogenic	rs145657341, rs118204057, rs118204060, rs118204077	RCV003405720 RCV003415622 RCV003964785 RCV003894783

Show/Hide Unknown Diseases (12)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Cholangiocarcinoma	Benign	rs254	RCV005915654
Clear cell carcinoma of kidney	Likely benign	rs778989703	RCV005931822
Coronary heart disease	Benign; Likely benign; other	rs1801177	RCV000157298
Dilated cardiomyopathy 1A	Conflicting classifications of pathogenicity	rs557015233	RCV002472376
Dystrophin deficiency	Benign	rs1121923, rs4922115	RCV001273359 RCV001275351
Hepatocellular carcinoma	Benign	rs269	RCV005923666
High density lipoprotein cholesterol level quantitative trait locus 11	Benign	rs326, rs13702	RCV000001625 RCV000033176
Hyperlipidemia, familial combined, susceptibility to	Uncertain significance; Conflicting classifications of pathogenicity; Benign; Likely benign; other	rs2128835067, rs268, rs1801177, rs1800590	RCV000001614 RCV000781944 RCV000001617 RCV001823726
Hypertriglyceridemia	Conflicting classifications of pathogenicity	rs1297688787	RCV001248902
Lung cancer	Benign	rs59054859	RCV005917147
Ovarian serous cystadenocarcinoma	Uncertain significance	rs148201569	RCV005939442
Thyroid cancer, nonmedullary, 1	Benign	rs328	RCV005912088

Show/Hide Text Mining Associations (160)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Acromegaly	Associate	26087292
Acute Coronary Syndrome	Associate	29412239
Adenocarcinoma	Associate	33371142
Adenocarcinoma of Lung	Associate	33050938
Adenomatous Polyposis Coli	Associate	40353385
Albuminuria	Associate	15857159
Alcoholism	Associate	7912254
Alzheimer Disease	Associate	19639021, 33213512
Arthritis Rheumatoid	Associate	28774272
Atherosclerosis	Associate	10191298, 11796707, 11861663, 15545743, 1569193, 15961789, 15994321, 17093291, 17662793, 19368142, 23991054, 28444107, 30333156, 8129039, 8408628, 8576640, 8778602 View all (2 more)
Atherosclerosis	Inhibit	38127052
Autistic Disorder	Associate	37628702
Autoimmune Diseases	Associate	11511560
Behcet Syndrome	Associate	12708905
Breast Neoplasms	Associate	34404457, 39379897
Carcinoma Hepatocellular	Associate	31740790
Carcinoma Squamous Cell	Associate	22782350, 37856813
Cardiomyopathy Dilated	Associate	31024045
Cardiovascular Diseases	Associate	16106048, 16141008, 24990426, 36690263, 40179477, 8096867
Castleman Disease	Associate	34686774
Cerebral Infarction	Associate	16519597, 27415775
Colitis Ulcerative	Associate	17072956
Colorectal Neoplasms	Associate	8291601
Coronary Artery Disease	Associate	10091829, 10191298, 11316129, 12708905, 12964943, 15253101, 15270617, 1569193, 19368142, 20150529, 21889313, 22837712, 26934567, 28167353, 28267856 View all (8 more)
Coronary Disease	Associate	10946018, 11230170, 11714860, 15189363, 15292370, 16168296, 16822320, 17533471, 19185650, 19639021, 20650961, 21347282, 21804106, 22042884, 26188224 View all (9 more)
Coronary Restenosis	Associate	16168296, 36814994
Crohn Disease	Associate	19637360, 30015893, 38287401
Death	Associate	19144983, 25811490
Diabetes Gestational	Associate	11832353, 26214456, 28486003, 28846666, 32494035
Diabetes Gestational	Inhibit	24262292
Diabetes Mellitus	Stimulate	1552236, 37686357
Diabetes Mellitus	Associate	17006673, 34460997, 36535927, 8096867
Diabetes Mellitus	Inhibit	31446444
Diabetes Mellitus Type 1	Associate	22239554, 26901141
Diabetes Mellitus Type 2	Associate	15189363, 15857159, 16757574, 17476032, 18985010, 19639021, 22368174, 23089926, 25612568, 29083408, 29617380, 30326043, 33351885, 34672391, 36535927 View all (5 more)
Diabetic Ketoacidosis	Associate	26901141
Diabetic Nephropathies	Associate	36919187
Disease	Associate	11511560
Drug Fever	Associate	32264896
Dyslipidemias	Associate	12837664, 15961789, 16106048, 19639021, 23089926, 24704626, 25897955, 28315561, 30210108, 30944368, 34460997, 34921821, 36419087, 8732773, 9017514, 9508003 View all (1 more)
Embolism Fat	Associate	33003532
Endometrial Neoplasms	Associate	27288544
Epileptic Syndromes	Associate	19558660
Essential Hypertension	Associate	12862202, 15253101, 19639021
Familial hyperchylomicronemia syndrome	Associate	1702428, 21880794, 27578112, 35923617
Fatty Liver	Stimulate	23110339
Fetal Macrosomia	Associate	32494035
Genetic Diseases Inborn	Associate	11593500, 2536938, 31619059
Glioma	Associate	27864281
Glucose Intolerance	Associate	8432854
Glycogen Storage Disease Type II	Associate	25205864
Heart Failure	Inhibit	35945262
Heart Failure	Associate	39276349
Hereditary pancreatitis	Associate	37603299
HIV Infections	Associate	12837664
Hyperglycemia	Inhibit	14984315
Hyperglycemic Hyperosmolar Nonketotic Coma	Stimulate	16926441
Hyperinsulinism	Associate	8732773
Hyperlipidemia Familial Combined	Associate	1619366, 16822320, 19335919, 34087978, 7753827, 9017514
Hyperlipidemias	Associate	10484613, 15256764, 16200213, 16822320, 1968704, 23991054, 30147083, 34460997, 7912254, 8169525, 8432854
Hyperlipoproteinemia Type I	Associate	10191298, 10787434, 11993791, 1479292, 1521525, 1598907, 1619366, 16200213, 1674945, 17468530, 1752947, 1907278, 1969408, 1975597, 2010533 View all (39 more)
Hyperlipoproteinemia Type I	Inhibit	10740731, 15256764, 1702428, 1752947, 1761570, 1907278, 1968704, 1969408, 1975597, 2038366, 2536938, 26079787, 26337181, 26489817, 30210108 View all (9 more)
Hyperlipoproteinemia Type II	Associate	11861663, 27039080, 36648309, 8808493, 9026529
Hyperlipoproteinemia Type III	Associate	19034316
Hyperlipoproteinemia Type IV	Associate	32353702, 33592566, 7706936, 7868979
Hyperlipoproteinemia Type V	Associate	7706936
Hyperlipoproteinemias	Associate	7706936
Hypersensitivity Immediate	Associate	1512512, 26489817
Hypertension	Associate	12862202, 15253101, 17006673, 19772655, 20332647, 23089926, 25587205, 38127052, 8169525
Hypertriglyceridemia	Associate	10484613, 10787434, 11593500, 11714860, 1355102, 16861622, 16864937, 17299085, 17476032, 17919884, 19639021, 1969408, 19820022, 20429872, 20657596 View all (40 more)
Hypertriglyceridemia	Inhibit	1552236
Hypertriglyceridemic Waist	Associate	19034316, 19237736, 7706936, 8732773
Hypoalphalipoproteinemias	Associate	15292370, 30333156
Hypoglycemia	Associate	26999119
Hypoxia	Associate	25889814
Inflammation	Associate	11511560, 15994321, 17662793, 21276447, 26718495, 28444107, 33351885, 34404457
Inflammation	Stimulate	31169351
Inflammatory Bowel Diseases	Associate	8050181
Insulin Resistance	Associate	21854610, 21966368, 25809647, 26214456, 26420199, 31167211, 31208038
Insulin Resistance	Inhibit	22368174
Intracranial Arteriovenous Malformations	Associate	30045256
Ketosis	Associate	26901141
Kidney Diseases	Associate	15189363, 31286991
Leukemia Lymphocytic Chronic B Cell	Associate	15802535, 18703425, 21508119, 22674506, 25733697, 25811490, 27757836
Leukemia Myelogenous Chronic BCR ABL Positive	Associate	8204873
Leukemia Prolymphocytic T Cell	Associate	23478142, 29953583
Liver Neoplasms	Associate	31740790
Lp(A) Deficiency Congenital	Associate	8432854
Lung Neoplasms	Associate	17620184
Lymphatic Metastasis	Associate	36397145
Lymphoma	Associate	18703425
Lymphoma Non Hodgkin	Associate	18703425
Lymphoproliferative Disorders	Associate	18703425
Macular Degeneration	Associate	20385819, 21906714, 24223199
Melanoma	Associate	21606880
Metabolic Diseases	Associate	25811490, 33003532, 35456470, 36690263, 38003484
Metabolic Syndrome	Associate	21854610, 24200052, 26370976, 26420199, 27827461, 29046332, 29412239, 34503513, 38201907, 40179477, 8169525
Metabolic Syndrome	Inhibit	39868518
Mitochondrial Diseases	Associate	29938581
Monoclonal Gammopathy of Undetermined Significance	Associate	18703425
Mucocutaneous Lymph Node Syndrome	Associate	7868979
Multiple Organ Failure	Associate	17662793
Multiple Sclerosis	Associate	31130950
Myocardial Infarction	Associate	15292372, 16519597, 24407533, 37906604, 8576637, 8576640
Myocardial Infarction	Inhibit	21252145, 39868518
Myocardial Ischemia	Associate	17006673, 17436307, 29396305, 9120004
Myocardial Ischemia	Inhibit	39868518
Myocarditis	Associate	8576640
Neoplasms	Associate	17620184, 19004026, 27080984, 29304175, 40420762, 40563400, 7912239
Neuroblastoma	Associate	12501246
Neurodegenerative Diseases	Associate	12501246
Neurotoxicity Syndromes	Associate	12501246
Non alcoholic Fatty Liver Disease	Associate	31740790, 37697333, 38127052
Non alcoholic Fatty Liver Disease	Inhibit	37002989
Noninsulin dependent diabetes mellitus with deafness	Associate	34460997
Obesity	Associate	15060087, 16757574, 19185650, 19629056, 19772655, 19818126, 23089926, 2320065, 24200052, 25132069, 25156894, 25612568, 25809647, 29335416, 31167211 View all (8 more)
Obesity	Inhibit	32494035, 36371454
Obesity Abdominal	Associate	35807893
Obesity Maternal	Associate	17299085
Obesity Maternal	Inhibit	24262292
Obesity Morbid	Stimulate	29335416
Osteoarthritis	Associate	32259644
Osteogenesis imperfecta type 3	Associate	8576637
Osteosarcoma	Associate	7912239
Ovarian Hyperstimulation Syndrome	Associate	28534980
Ovarian Neoplasms	Associate	31969186, 36012230
Overweight	Associate	11576322, 26188224
Pancreatitis	Associate	16106048, 21880794, 22239554, 24646025, 26079787, 27578112, 29288010, 29921298, 30147083, 30420299, 30948399, 31901151, 31962008, 32264896, 35923617 View all (6 more)
Periodontitis	Associate	34805411
Peripheral Arterial Disease	Associate	31070467
Plaque Atherosclerotic	Associate	20200316, 8129039
Pneumonia Lipid	Associate	27535653
Polycystic Ovary Syndrome	Associate	25554608, 28534980, 33228780
Pre Eclampsia	Associate	16106048, 24400599, 24591340
Precursor Cell Lymphoblastic Leukemia Lymphoma	Associate	38507115
Pressure Ulcer	Associate	12862202
Prodromal Symptoms	Associate	21508119
Prostatic Neoplasms	Associate	19004026, 37298233, 40563400
Prostatitis	Associate	19004026, 40563400
Proteinuria	Associate	31286991
Psoriasis	Associate	33416099
Rectal Neoplasms	Associate	7912239
Renal Artery Obstruction	Associate	35259553
Respiratory System Abnormalities	Associate	17662793
Sarcoma	Associate	7912239
Severe Acute Respiratory Syndrome	Associate	29921298, 30420299, 36879129, 39278772
Sjogren's Syndrome	Associate	21880794
Smoke Inhalation Injury	Associate	17006673
ST Elevation Myocardial Infarction	Associate	34227921
Stomach Neoplasms	Associate	27893427
Stroke	Associate	24990426
Syndrome	Inhibit	21314738
Syndrome	Associate	21314738
Urinary Bladder Neoplasms	Associate	38127052
Uterine Cervicitis	Associate	22782350
Vascular Diseases	Associate	16519597
Waldenstrom Macroglobulinemia	Associate	18703425
Wasting Syndrome	Associate	37021483
Weight Loss	Stimulate	2320065, 7738178
X Linked Combined Immunodeficiency Diseases	Associate	27080984

LPL (lipoprotein lipase)