LRP1 (LDL receptor related protein 1)

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Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases Related genes Diseases linked via similar genes

Gene

• Entrez ID: 4035
• Gene name: LDL receptor related protein 1
• Gene symbol: LRP1
• Synonyms (NCBI Gene): A2MR, APOER, APR, CD91, DDH3, IGFBP-3R, IGFBP3R, IGFBP3R1, KPA, LRP, LRP1A, TGFBR5
• Chromosome: 12
• Chromosome location: 12q13.3
• Summary: This gene encodes a member of the low-density lipoprotein receptor family of proteins. The encoded preproprotein is proteolytically processed by furin to generate 515 kDa and 85 kDa subunits that form the mature receptor (PMID: 8546712). This receptor is

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs483353013	A>C,G	Not-provided, pathogenic	Missense variant, coding sequence variant

miRNA Show/Hide all (240)

miRTarBase ID	miRNA	Experiments	Reference
MIRT001163	hsa-miR-205-5p	qRT-PCR, Luciferase reporter assay, Western blot	19665999
MIRT001162	hsa-miR-545-3p	qRT-PCR, Luciferase reporter assay, Western blot	19665999
MIRT001161	hsa-miR-338-5p	qRT-PCR, Luciferase reporter assay, Western blot	19665999
MIRT001163	hsa-miR-205-5p	Luciferase reporter assay	19665999
MIRT001359	hsa-miR-1-3p	pSILAC	18668040
MIRT017720	hsa-miR-335-5p	Microarray	18185580
MIRT021326	hsa-miR-9-5p	Microarray	17612493
MIRT001359	hsa-miR-1-3p	Proteomics;Other	18668040
MIRT1117833	hsa-miR-1207-5p	CLIP-seq
MIRT1117834	hsa-miR-1292	CLIP-seq
MIRT1117835	hsa-miR-1321	CLIP-seq
MIRT1117836	hsa-miR-1324	CLIP-seq
MIRT1117837	hsa-miR-205	CLIP-seq
MIRT1117838	hsa-miR-3133	CLIP-seq
MIRT1117839	hsa-miR-3150a-5p	CLIP-seq
MIRT1117840	hsa-miR-3150b-5p	CLIP-seq
MIRT1117841	hsa-miR-3180-5p	CLIP-seq
MIRT1117842	hsa-miR-380	CLIP-seq
MIRT1117843	hsa-miR-3925-3p	CLIP-seq
MIRT1117844	hsa-miR-4270	CLIP-seq
MIRT1117845	hsa-miR-4292	CLIP-seq
MIRT1117846	hsa-miR-4441	CLIP-seq
MIRT1117847	hsa-miR-4447	CLIP-seq
MIRT1117848	hsa-miR-4471	CLIP-seq
MIRT1117849	hsa-miR-4472	CLIP-seq
MIRT1117850	hsa-miR-4480	CLIP-seq
MIRT1117851	hsa-miR-4511	CLIP-seq
MIRT1117852	hsa-miR-4514	CLIP-seq
MIRT1117853	hsa-miR-4534	CLIP-seq
MIRT1117854	hsa-miR-4646-5p	CLIP-seq
MIRT1117855	hsa-miR-4688	CLIP-seq
MIRT1117856	hsa-miR-4690-5p	CLIP-seq
MIRT1117857	hsa-miR-4692	CLIP-seq
MIRT1117858	hsa-miR-4728-5p	CLIP-seq
MIRT1117859	hsa-miR-4739	CLIP-seq
MIRT1117860	hsa-miR-4756-5p	CLIP-seq
MIRT1117861	hsa-miR-4763-3p	CLIP-seq
MIRT1117862	hsa-miR-486-3p	CLIP-seq
MIRT1117863	hsa-miR-520a-5p	CLIP-seq
MIRT1117864	hsa-miR-525-5p	CLIP-seq
MIRT1117865	hsa-miR-545	CLIP-seq
MIRT1117866	hsa-miR-579	CLIP-seq
MIRT1117867	hsa-miR-766	CLIP-seq
MIRT1117868	hsa-miR-940	CLIP-seq
MIRT1117833	hsa-miR-1207-5p	CLIP-seq
MIRT1117835	hsa-miR-1321	CLIP-seq
MIRT1550910	hsa-miR-342-5p	CLIP-seq
MIRT1550911	hsa-miR-3689a-3p	CLIP-seq
MIRT1550912	hsa-miR-3689c	CLIP-seq
MIRT1117844	hsa-miR-4270	CLIP-seq
MIRT1550913	hsa-miR-4291	CLIP-seq
MIRT1550914	hsa-miR-4434	CLIP-seq
MIRT1117846	hsa-miR-4441	CLIP-seq
MIRT1117850	hsa-miR-4480	CLIP-seq
MIRT1117852	hsa-miR-4514	CLIP-seq
MIRT1550915	hsa-miR-4516	CLIP-seq
MIRT1550916	hsa-miR-4531	CLIP-seq
MIRT1117853	hsa-miR-4534	CLIP-seq
MIRT1550917	hsa-miR-4664-5p	CLIP-seq
MIRT1117856	hsa-miR-4690-5p	CLIP-seq
MIRT1117857	hsa-miR-4692	CLIP-seq
MIRT1117858	hsa-miR-4728-5p	CLIP-seq
MIRT1117859	hsa-miR-4739	CLIP-seq
MIRT1550918	hsa-miR-4747-5p	CLIP-seq
MIRT1117860	hsa-miR-4756-5p	CLIP-seq
MIRT1117861	hsa-miR-4763-3p	CLIP-seq
MIRT1550919	hsa-miR-539	CLIP-seq
MIRT1117865	hsa-miR-545	CLIP-seq
MIRT1550920	hsa-miR-548p	CLIP-seq
MIRT1117868	hsa-miR-940	CLIP-seq
MIRT2033328	hsa-miR-3064-5p	CLIP-seq
MIRT2033329	hsa-miR-3150a-3p	CLIP-seq
MIRT2033330	hsa-miR-3175	CLIP-seq
MIRT2033331	hsa-miR-3184	CLIP-seq
MIRT2033332	hsa-miR-3652	CLIP-seq
MIRT2033333	hsa-miR-423-5p	CLIP-seq
MIRT2033334	hsa-miR-4283	CLIP-seq
MIRT2033335	hsa-miR-4284	CLIP-seq
MIRT2033336	hsa-miR-4420	CLIP-seq
MIRT2033337	hsa-miR-4430	CLIP-seq
MIRT2033338	hsa-miR-4437	CLIP-seq
MIRT2033339	hsa-miR-4505	CLIP-seq
MIRT2033340	hsa-miR-4667-5p	CLIP-seq
MIRT2033341	hsa-miR-4700-5p	CLIP-seq
MIRT1117858	hsa-miR-4728-5p	CLIP-seq
MIRT2033342	hsa-miR-4731-5p	CLIP-seq
MIRT2033343	hsa-miR-485-5p	CLIP-seq
MIRT2033344	hsa-miR-939	CLIP-seq
MIRT2263669	hsa-miR-1291	CLIP-seq
MIRT1117834	hsa-miR-1292	CLIP-seq
MIRT2263670	hsa-miR-1908	CLIP-seq
MIRT1117839	hsa-miR-3150a-5p	CLIP-seq
MIRT1117840	hsa-miR-3150b-5p	CLIP-seq
MIRT2263671	hsa-miR-3202	CLIP-seq
MIRT1117843	hsa-miR-3925-3p	CLIP-seq
MIRT1117845	hsa-miR-4292	CLIP-seq
MIRT2263672	hsa-miR-4308	CLIP-seq
MIRT2033336	hsa-miR-4420	CLIP-seq
MIRT2263673	hsa-miR-4446-3p	CLIP-seq
MIRT1117848	hsa-miR-4471	CLIP-seq
MIRT2263674	hsa-miR-4488	CLIP-seq
MIRT2263675	hsa-miR-4640-5p	CLIP-seq
MIRT1117854	hsa-miR-4646-5p	CLIP-seq
MIRT2263676	hsa-miR-4697-5p	CLIP-seq
MIRT2263677	hsa-miR-4726-5p	CLIP-seq
MIRT1117858	hsa-miR-4728-5p	CLIP-seq
MIRT1550918	hsa-miR-4747-5p	CLIP-seq
MIRT2263678	hsa-miR-663	CLIP-seq
MIRT2263679	hsa-miR-744	CLIP-seq
MIRT1117867	hsa-miR-766	CLIP-seq
MIRT2438436	hsa-miR-1226	CLIP-seq
MIRT1117835	hsa-miR-1321	CLIP-seq
MIRT2438437	hsa-miR-150	CLIP-seq
MIRT2438438	hsa-miR-3130-3p	CLIP-seq
MIRT1550910	hsa-miR-342-5p	CLIP-seq
MIRT2438439	hsa-miR-4267	CLIP-seq
MIRT2438440	hsa-miR-4271	CLIP-seq
MIRT2438441	hsa-miR-4651	CLIP-seq
MIRT1550917	hsa-miR-4664-5p	CLIP-seq
MIRT2438442	hsa-miR-4713-5p	CLIP-seq
MIRT2438443	hsa-miR-4725-3p	CLIP-seq
MIRT1117858	hsa-miR-4728-5p	CLIP-seq
MIRT1117859	hsa-miR-4739	CLIP-seq
MIRT1550918	hsa-miR-4747-5p	CLIP-seq
MIRT1117860	hsa-miR-4756-5p	CLIP-seq
MIRT2438444	hsa-miR-532-3p	CLIP-seq
MIRT2438445	hsa-miR-608	CLIP-seq
MIRT2438446	hsa-miR-767-5p	CLIP-seq
MIRT2562996	hsa-miR-103a	CLIP-seq
MIRT2562997	hsa-miR-107	CLIP-seq
MIRT1117833	hsa-miR-1207-5p	CLIP-seq
MIRT2438436	hsa-miR-1226	CLIP-seq
MIRT2562998	hsa-miR-125a-5p	CLIP-seq
MIRT2562999	hsa-miR-125b	CLIP-seq
MIRT1117835	hsa-miR-1321	CLIP-seq
MIRT2438437	hsa-miR-150	CLIP-seq
MIRT2438438	hsa-miR-3130-3p	CLIP-seq
MIRT1550910	hsa-miR-342-5p	CLIP-seq
MIRT1550911	hsa-miR-3689a-3p	CLIP-seq
MIRT1550912	hsa-miR-3689c	CLIP-seq
MIRT2563000	hsa-miR-3689d	CLIP-seq
MIRT2563001	hsa-miR-3714	CLIP-seq
MIRT2563002	hsa-miR-3944-5p	CLIP-seq
MIRT2563003	hsa-miR-4266	CLIP-seq
MIRT2438439	hsa-miR-4267	CLIP-seq
MIRT1117844	hsa-miR-4270	CLIP-seq
MIRT2438440	hsa-miR-4271	CLIP-seq
MIRT2563004	hsa-miR-4287	CLIP-seq
MIRT2563005	hsa-miR-4290	CLIP-seq
MIRT2563006	hsa-miR-4299	CLIP-seq
MIRT2563007	hsa-miR-4319	CLIP-seq
MIRT2563008	hsa-miR-4323	CLIP-seq
MIRT2563009	hsa-miR-4421	CLIP-seq
MIRT1117846	hsa-miR-4441	CLIP-seq
MIRT2563010	hsa-miR-4456	CLIP-seq
MIRT2563011	hsa-miR-4469	CLIP-seq
MIRT1117850	hsa-miR-4480	CLIP-seq
MIRT2563012	hsa-miR-4493	CLIP-seq
MIRT1117852	hsa-miR-4514	CLIP-seq
MIRT2438441	hsa-miR-4651	CLIP-seq
MIRT1550917	hsa-miR-4664-5p	CLIP-seq
MIRT2563013	hsa-miR-4685-3p	CLIP-seq
MIRT2563014	hsa-miR-4687-5p	CLIP-seq
MIRT1117856	hsa-miR-4690-5p	CLIP-seq
MIRT1117857	hsa-miR-4692	CLIP-seq
MIRT2563015	hsa-miR-4695-5p	CLIP-seq
MIRT2438442	hsa-miR-4713-5p	CLIP-seq
MIRT2438443	hsa-miR-4725-3p	CLIP-seq
MIRT1117858	hsa-miR-4728-5p	CLIP-seq
MIRT2563016	hsa-miR-4732-3p	CLIP-seq
MIRT1117859	hsa-miR-4739	CLIP-seq
MIRT1550918	hsa-miR-4747-5p	CLIP-seq
MIRT1117860	hsa-miR-4756-5p	CLIP-seq
MIRT1117861	hsa-miR-4763-3p	CLIP-seq
MIRT2563017	hsa-miR-4779	CLIP-seq
MIRT2563018	hsa-miR-4789-5p	CLIP-seq
MIRT2438444	hsa-miR-532-3p	CLIP-seq
MIRT2563019	hsa-miR-541	CLIP-seq
MIRT2563020	hsa-miR-548q	CLIP-seq
MIRT2438445	hsa-miR-608	CLIP-seq
MIRT2563021	hsa-miR-654-5p	CLIP-seq
MIRT2563022	hsa-miR-670	CLIP-seq
MIRT2438446	hsa-miR-767-5p	CLIP-seq
MIRT1117868	hsa-miR-940	CLIP-seq
MIRT2562996	hsa-miR-103a	CLIP-seq
MIRT2562997	hsa-miR-107	CLIP-seq
MIRT1117833	hsa-miR-1207-5p	CLIP-seq
MIRT2438436	hsa-miR-1226	CLIP-seq
MIRT2562998	hsa-miR-125a-5p	CLIP-seq
MIRT2562999	hsa-miR-125b	CLIP-seq
MIRT1117835	hsa-miR-1321	CLIP-seq
MIRT2438437	hsa-miR-150	CLIP-seq
MIRT2438438	hsa-miR-3130-3p	CLIP-seq
MIRT1550910	hsa-miR-342-5p	CLIP-seq
MIRT1550911	hsa-miR-3689a-3p	CLIP-seq
MIRT1550912	hsa-miR-3689c	CLIP-seq
MIRT2563000	hsa-miR-3689d	CLIP-seq
MIRT2563001	hsa-miR-3714	CLIP-seq
MIRT2563002	hsa-miR-3944-5p	CLIP-seq
MIRT2563003	hsa-miR-4266	CLIP-seq
MIRT2438439	hsa-miR-4267	CLIP-seq
MIRT1117844	hsa-miR-4270	CLIP-seq
MIRT2438440	hsa-miR-4271	CLIP-seq
MIRT2563004	hsa-miR-4287	CLIP-seq
MIRT2563005	hsa-miR-4290	CLIP-seq
MIRT2563006	hsa-miR-4299	CLIP-seq
MIRT2563007	hsa-miR-4319	CLIP-seq
MIRT2563008	hsa-miR-4323	CLIP-seq
MIRT2563009	hsa-miR-4421	CLIP-seq
MIRT1117846	hsa-miR-4441	CLIP-seq
MIRT2563010	hsa-miR-4456	CLIP-seq
MIRT2563011	hsa-miR-4469	CLIP-seq
MIRT1117850	hsa-miR-4480	CLIP-seq
MIRT2563012	hsa-miR-4493	CLIP-seq
MIRT1117852	hsa-miR-4514	CLIP-seq
MIRT2438441	hsa-miR-4651	CLIP-seq
MIRT1550917	hsa-miR-4664-5p	CLIP-seq
MIRT2563013	hsa-miR-4685-3p	CLIP-seq
MIRT2563014	hsa-miR-4687-5p	CLIP-seq
MIRT1117856	hsa-miR-4690-5p	CLIP-seq
MIRT1117857	hsa-miR-4692	CLIP-seq
MIRT2563015	hsa-miR-4695-5p	CLIP-seq
MIRT2438442	hsa-miR-4713-5p	CLIP-seq
MIRT2438443	hsa-miR-4725-3p	CLIP-seq
MIRT1117858	hsa-miR-4728-5p	CLIP-seq
MIRT2563016	hsa-miR-4732-3p	CLIP-seq
MIRT1117859	hsa-miR-4739	CLIP-seq
MIRT1550918	hsa-miR-4747-5p	CLIP-seq
MIRT1117860	hsa-miR-4756-5p	CLIP-seq
MIRT1117861	hsa-miR-4763-3p	CLIP-seq
MIRT2563017	hsa-miR-4779	CLIP-seq
MIRT2563018	hsa-miR-4789-5p	CLIP-seq
MIRT2438444	hsa-miR-532-3p	CLIP-seq
MIRT2563019	hsa-miR-541	CLIP-seq
MIRT2563020	hsa-miR-548q	CLIP-seq
MIRT2438445	hsa-miR-608	CLIP-seq
MIRT2563021	hsa-miR-654-5p	CLIP-seq
MIRT2563022	hsa-miR-670	CLIP-seq
MIRT2438446	hsa-miR-767-5p	CLIP-seq
MIRT1117868	hsa-miR-940	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
SREBF1	Repression	20980003
SREBF2	Repression	16697011;20980003

Gene ontology (GO) Show/Hide all (100)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001523	Process	Retinoid metabolic process	IEA
GO:0001523	Process	Retinoid metabolic process	TAS
GO:0001540	Function	Amyloid-beta binding	IC
GO:0002265	Process	Astrocyte activation involved in immune response	ISS
GO:0003723	Function	RNA binding	HDA	22658674
GO:0005041	Function	Low-density lipoprotein particle receptor activity	IEA
GO:0005041	Function	Low-density lipoprotein particle receptor activity	TAS	20005821
GO:0005044	Function	Scavenger receptor activity	TAS	11240025
GO:0005509	Function	Calcium ion binding	IEA
GO:0005509	Function	Calcium ion binding	ISS
GO:0005515	Function	Protein binding	IPI	8626514, 10772929, 15182176, 17326667, 17360663, 20030366, 20472562, 21054788, 21968187, 24284412, 26005850, 28514442, 29547901, 32814053, 33961781
GO:0005634	Component	Nucleus	IEA
GO:0005730	Component	Nucleolus	IDA
GO:0005737	Component	Cytoplasm	IEA
GO:0005765	Component	Lysosomal membrane	HDA	17897319
GO:0005769	Component	Early endosome	IDA	26005850
GO:0005769	Component	Early endosome	IEA
GO:0005794	Component	Golgi apparatus	IEA
GO:0005815	Component	Microtubule organizing center	IEA
GO:0005829	Component	Cytosol	IDA
GO:0005856	Component	Cytoskeleton	IEA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	ISS
GO:0005886	Component	Plasma membrane	TAS	14645246
GO:0005905	Component	Clathrin-coated pit	IEA
GO:0005925	Component	Focal adhesion	HDA	21423176
GO:0006629	Process	Lipid metabolic process	TAS	21289173
GO:0006897	Process	Endocytosis	IEA
GO:0006898	Process	Receptor-mediated endocytosis	IBA
GO:0006898	Process	Receptor-mediated endocytosis	IEA
GO:0006898	Process	Receptor-mediated endocytosis	IMP	23152628, 24305823, 26005850, 26781079
GO:0006898	Process	Receptor-mediated endocytosis	ISS
GO:0006909	Process	Phagocytosis	IBA
GO:0006909	Process	Phagocytosis	IMP	23152628
GO:0006909	Process	Phagocytosis	NAS	20199584
GO:0007041	Process	Lysosomal transport	ISS
GO:0007167	Process	Enzyme-linked receptor protein signaling pathway	ISS	31023188
GO:0010605	Process	Negative regulation of macromolecule metabolic process	IEA
GO:0010629	Process	Negative regulation of gene expression	ISS	31023188
GO:0010715	Process	Regulation of extracellular matrix disassembly	TAS	14645246
GO:0010875	Process	Positive regulation of cholesterol efflux	ISS
GO:0014912	Process	Negative regulation of smooth muscle cell migration	ISS
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	NAS	23386614
GO:0016323	Component	Basolateral plasma membrane	IDA	26005850
GO:0016964	Function	Alpha-2 macroglobulin receptor activity	IMP	26142438
GO:0016964	Function	Alpha-2 macroglobulin receptor activity	TAS	21289173
GO:0030100	Process	Regulation of endocytosis	IEA
GO:0030178	Process	Negative regulation of Wnt signaling pathway	ISS
GO:0030226	Function	Apolipoprotein receptor activity	TAS	21289173
GO:0030666	Component	Endocytic vesicle membrane	TAS
GO:0031623	Process	Receptor internalization	TAS	22293988
GO:0032050	Function	Clathrin heavy chain binding	IEA
GO:0032050	Function	Clathrin heavy chain binding	IPI	26005850
GO:0032370	Process	Positive regulation of lipid transport	ISS
GO:0032956	Process	Regulation of actin cytoskeleton organization	ISS
GO:0034185	Function	Apolipoprotein binding	IBA
GO:0034185	Function	Apolipoprotein binding	IDA	2779654
GO:0034185	Function	Apolipoprotein binding	IPI	18635818
GO:0035909	Process	Aorta morphogenesis	ISS
GO:0038023	Function	Signaling receptor activity	TAS	10880251
GO:0038024	Function	Cargo receptor activity	IBA
GO:0038024	Function	Cargo receptor activity	IMP	23152628, 24305823
GO:0038024	Function	Cargo receptor activity	ISS
GO:0038024	Function	Cargo receptor activity	NAS	3266596
GO:0042953	Process	Lipoprotein transport	NAS	3266596
GO:0043235	Component	Receptor complex	IDA	23382219
GO:0043277	Process	Apoptotic cell clearance	ISS
GO:0043395	Function	Heparan sulfate proteoglycan binding	TAS	21289173
GO:0044877	Function	Protein-containing complex binding	IDA	8626514
GO:0044877	Function	Protein-containing complex binding	IEA
GO:0045056	Process	Transcytosis	TAS	22293988
GO:0045807	Process	Positive regulation of endocytosis	IGI	23386614
GO:0046872	Function	Metal ion binding	IEA
GO:0051050	Process	Positive regulation of transport	IEA
GO:0051246	Process	Regulation of protein metabolic process	IEA
GO:0060392	Process	Negative regulation of SMAD protein signal transduction	ISS	31023188
GO:0070325	Function	Lipoprotein particle receptor binding	IC	18635818
GO:0097242	Process	Amyloid-beta clearance	NAS	20199584
GO:0097242	Process	Amyloid-beta clearance	TAS	19098903
GO:0098797	Component	Plasma membrane protein complex	TAS	21289173
GO:0150093	Process	Amyloid-beta clearance by transcytosis	IBA
GO:0150093	Process	Amyloid-beta clearance by transcytosis	IGI	26005850
GO:0150093	Process	Amyloid-beta clearance by transcytosis	ISS
GO:0150094	Process	Amyloid-beta clearance by cellular catabolic process	IBA
GO:0150094	Process	Amyloid-beta clearance by cellular catabolic process	IMP	23152628, 24305823
GO:0150094	Process	Amyloid-beta clearance by cellular catabolic process	ISS
GO:0150104	Process	Transport across blood-brain barrier	ISS
GO:0150104	Process	Transport across blood-brain barrier	NAS	26590417, 30280653
GO:1900223	Process	Positive regulation of amyloid-beta clearance	ISS
GO:1900223	Process	Positive regulation of amyloid-beta clearance	TAS	22383525
GO:1903053	Process	Regulation of extracellular matrix organization	IMP	26781079
GO:1903064	Process	Positive regulation of reverse cholesterol transport	ISS
GO:1903078	Process	Positive regulation of protein localization to plasma membrane	IGI	23386614
GO:1904300	Process	Positive regulation of transcytosis	ISS
GO:1904646	Process	Cellular response to amyloid-beta	ISS
GO:1905167	Process	Positive regulation of lysosomal protein catabolic process	IMP	23152628
GO:2000587	Process	Negative regulation of platelet-derived growth factor receptor-beta signaling pathway	ISS

Other IDs

• MIM: 107770
• HGNC: 6692
• e!Ensembl: ENSG00000123384

Protein

• UniProt ID: Q07954
• Protein name: Prolow-density lipoprotein receptor-related protein 1 (LRP-1) (Alpha-2-macroglobulin receptor) (A2MR) (Apolipoprotein E receptor) (APOER) (CD antigen CD91) [Cleaved into: Low-density lipoprotein receptor-related protein 1 85 kDa subunit (LRP-85); Low-dens
• Protein function: Endocytic receptor involved in endocytosis and in phagocytosis of apoptotic cells (PubMed:11907044, PubMed:12713657). Required for early embryonic development (By similarity). Involved in cellular lipid homeostasis. Involved in the plasma cleara
• PDB: 1CR8 , 1D2L , 1J8E , 2FYJ , 2FYL , 2KNX , 2KNY
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00057	Ldl_recept_a	3451 → 3489	Low-density lipoprotein receptor domain class A	Repeat
  PF00057	Ldl_recept_a	3573 → 3609	Low-density lipoprotein receptor domain class A	Repeat
  PF00057	Ldl_recept_a	1013 → 1051	Low-density lipoprotein receptor domain class A	Repeat
  PF00057	Ldl_recept_a	3611 → 3647	Low-density lipoprotein receptor domain class A	Repeat
  PF00057	Ldl_recept_a	852 → 890	Low-density lipoprotein receptor domain class A	Repeat
  PF00057	Ldl_recept_a	934 → 971	Low-density lipoprotein receptor domain class A	Repeat
  PF00057	Ldl_recept_a	3534 → 3570	Low-density lipoprotein receptor domain class A	Repeat
  PF00057	Ldl_recept_a	3492 → 3531	Low-density lipoprotein receptor domain class A	Repeat
  PF00057	Ldl_recept_a	25 → 64	Low-density lipoprotein receptor domain class A	Repeat
  PF00057	Ldl_recept_a	974 → 1011	Low-density lipoprotein receptor domain class A	Repeat
  PF00057	Ldl_recept_a	2732 → 2769	Low-density lipoprotein receptor domain class A	Repeat
  PF00057	Ldl_recept_a	2856 → 2897	Low-density lipoprotein receptor domain class A	Repeat
  PF00057	Ldl_recept_a	70 → 108	Low-density lipoprotein receptor domain class A	Repeat
  PF00057	Ldl_recept_a	1060 → 1097	Low-density lipoprotein receptor domain class A	Repeat
  PF00057	Ldl_recept_a	2694 → 2730	Low-density lipoprotein receptor domain class A	Repeat
  PF00057	Ldl_recept_a	2772 → 2812	Low-density lipoprotein receptor domain class A	Repeat
  PF00057	Ldl_recept_a	2816 → 2853	Low-density lipoprotein receptor domain class A	Repeat
  PF00057	Ldl_recept_a	893 → 931	Low-density lipoprotein receptor domain class A	Repeat
  PF00057	Ldl_recept_a	3372 → 3408	Low-density lipoprotein receptor domain class A	Repeat
  PF00057	Ldl_recept_a	1102 → 1140	Low-density lipoprotein receptor domain class A	Repeat
  PF00057	Ldl_recept_a	3652 → 3690	Low-density lipoprotein receptor domain class A	Repeat
  PF00057	Ldl_recept_a	2603 → 2639	Low-density lipoprotein receptor domain class A	Repeat
  PF00057	Ldl_recept_a	2902 → 2939	Low-density lipoprotein receptor domain class A	Repeat
  PF00057	Ldl_recept_a	3411 → 3448	Low-density lipoprotein receptor domain class A	Repeat
  PF00057	Ldl_recept_a	2522 → 2561	Low-density lipoprotein receptor domain class A	Repeat
  PF00057	Ldl_recept_a	3332 → 3369	Low-density lipoprotein receptor domain class A	Repeat
  PF00057	Ldl_recept_a	2564 → 2600	Low-density lipoprotein receptor domain class A	Repeat
  PF00057	Ldl_recept_a	3739 → 3776	Low-density lipoprotein receptor domain class A	Repeat
  PF00057	Ldl_recept_a	2657 → 2688	Low-density lipoprotein receptor domain class A	Repeat
  PF00058	Ldl_recept_b	4013 → 4054	Low-density lipoprotein receptor repeat class B	Repeat
  PF00058	Ldl_recept_b	2344 → 2386	Low-density lipoprotein receptor repeat class B	Repeat
  PF00058	Ldl_recept_b	1356 → 1396	Low-density lipoprotein receptor repeat class B	Repeat
  PF00058	Ldl_recept_b	3970 → 4010	Low-density lipoprotein receptor repeat class B	Repeat
  PF00058	Ldl_recept_b	1977 → 2017	Low-density lipoprotein receptor repeat class B	Repeat
  PF00058	Ldl_recept_b	2020 → 2061	Low-density lipoprotein receptor repeat class B	Repeat
  PF00058	Ldl_recept_b	1627 → 1667	Low-density lipoprotein receptor repeat class B	Repeat
  PF00058	Ldl_recept_b	1399 → 1443	Low-density lipoprotein receptor repeat class B	Repeat
  PF00058	Ldl_recept_b	2389 → 2428	Low-density lipoprotein receptor repeat class B	Repeat
  PF00058	Ldl_recept_b	660 → 708	Low-density lipoprotein receptor repeat class B	Repeat
  PF00058	Ldl_recept_b	614 → 657	Low-density lipoprotein receptor repeat class B	Repeat
  PF00058	Ldl_recept_b	4057 → 4099	Low-density lipoprotein receptor repeat class B	Repeat
  PF07645	EGF_CA	150 → 188	Calcium-binding EGF domain	Domain
  PF07645	EGF_CA	3824 → 3861	Calcium-binding EGF domain	Domain
  PF12662	cEGF	2962 → 2985	Complement Clr-like EGF-like	Domain
  PF14670	FXa_inhibition	807 → 842		Domain
  PF14670	FXa_inhibition	3294 → 3330		Domain
  PF14670	FXa_inhibition	1185 → 1221		Domain
  PF16472	DUF5050	3022 → 3258	Domain of unknown function (DUF5050)	Domain

• Tissue specificity: TISSUE SPECIFICITY: Most abundant in liver, brain and lung.
• Sequence:

  MLTPPLLLLLPLLSALVAAAIDAPKTCSPKQFACRDQITCISKGWRCDGERDCPDGSDEA
  PEICPQSKAQRCQPNEHNCLGTELCVPMSRLCNGVQDCMDGSDEGPHCRELQGNCSRLGC
  QHHCVPTLDGPTCYCNSSFQLQADGKTCKDFDECSVYGTCSQLCTNTDGSFICGCVEGYL
  LQPDNRSCKAKNEPVDRPPVLLIANSQNILATYLSGAQVSTITPTSTRQTTAMDFSYANE
  TVCWVHVGDSAAQTQLKCARMPGLKGFVDEHTINISLSLHHVEQMAIDWLTGNFYFVDDI
  DDRIFVCNRNGDTCVTLLDLELYNPKGIALDPAMGKVFFTDYGQIPKVERCDMDGQNRTK
  LVDSKIVFPHGITLDLVSRLVYWADAYLDYIEVVDYEGKGRQTIIQGILIEHLYGLTVFE
  NYLYATNSDNANAQQKTSVIRVNRFNSTEYQVVTRVDKGGALHIYHQRRQPRVRSHACEN
  DQYGKPGGCSDICLLANSHKARTCRCRSGFSLGSDGKSCKKPEHELFLVYGKGRPGIIRG
  MDMGAKVPDEHMIPIENLMNPRALDFHAETGFIYFADTTSYLIGRQKIDGTERETILKDG
  IHNVEGVAVDWMGDNLYWTDDGPKKTISVARLEKAAQTRKTLIEGKMTHPRAIVVDPLNG
  WMYWTDWEEDPKDSRRGRLERAWMDGSHRDIFVTSKTVLWPNGLSLDIPAGRLYWVDAFY
  DRIETILLNGTDRKIVYEGPELNHAFGLCHHGNYLFWTEYRSGSVYRLERGVGGAPPTVT
  LLRSERPPIFEIRMYDAQQQQVGTNKCRVNNGGCSSLCLATPGSRQCACAEDQVLDADGV
  TCLANPSYVPPPQCQPGEFACANSRCIQERWKCDGDNDCLDNSDEAPALCHQHTCPSDRF
  KCENNRCIPNRWLCDGDNDCGNSEDESNATCSARTCPPNQFSCASGRCIPISWTCDLDDD
  CGDRSDESASCAYPTCFPLTQFTCNNGRCININWRCDNDNDCGDNSDEAGCSHSCSSTQF
  KCNSGRCIPEHWTCDGDNDCGDYSDETHANCTNQATRPPGGCHTDEFQCRLDGLCIPLRW
  RCDGDTDCMDSSDEKSCEGVTHVCDPSVKFGCKDSARCISKAWVCDGDNDCEDNSDEENC
  ESLACRPPSHPCANNTSVCLPPDKLCDGNDDCGDGSDEGELCDQCSLNNGGCSHNCSVAP
  GEGIVCSCPLGMELGPDNHTCQIQSYCAKHLKCSQKCDQNKFSVKCSCYEGWVLEPDGES
  CRSLDPFKPFIIFSNRHEIRRIDLHKGDYSVLVPGLRNTIALDFHLSQSALYWTDVVEDK
  IYRGKLLDNGALTSFEVVIQYGLATPEGLAVDWIAGNIYWVESNLDQIEVAKLDGTLRTT
  LLAGDIEHPRAIALDPRDGILFWTDWDASLPRIEAASMSGAGRRTVHRETGSGGWPNGLT
  VDYLEKRILWIDARSDAIYSARYDGSGHMEVLRGHEFLSHPFAVTLYGGEVYWTDWRTNT
  LAKANKWTGHNVTVVQRTNTQPFDLQVYHPSRQPMAPNPCEANGGQGPCSHLCLINYNRT
  VSCACPHLMKLHKDNTTCYEFKKFLLYARQMEIRGVDLDAPYYNYIISFTVPDIDNVTVL
  DYDAREQRVYWSDVRTQAIKRAFINGTGVETVVSADLPNAHGLAVDWVSRNLFWTSYDTN
  KKQINVARLDGSFKNAVVQGLEQPHGLVVHPLRGKLYWTDGDNISMANMDGSNRTLLFSG
  QKGPVGLAIDFPESKLYWISSGNHTINRCNLDGSGLEVIDAMRSQLGKATALAIMGDKLW
  WADQVSEKMGTCSKADGSGSVVLRNSTTLVMHMKVYDESIQLDHKGTNPCSVNNGDCSQL
  CLPTSETTRSCMCTAGYSLRSGQQACEGVGSFLLYSVHEGIRGIPLDPNDKSDALVPVSG
  TSLAVGIDFHAENDTIYWVDMGLSTISRAKRDQTWREDVVTNGIGRVEGIAVDWIAGNIY
  WTDQGFDVIEVARLNGSFRYVVISQGLDKPRAITVHPEKGYLFWTEWGQYPRIERSRLDG
  TERVVLVNVSISWPNGISVDYQDGKLYWCDARTDKIERIDLETGENREVVLSSNNMDMFS
  VSVFEDFIYWSDRTHANGSIKRGSKDNATDSVPLRTGIGVQLKDIKVFNRDRQKGTNVCA
  VANGGCQQLCLYRGRGQRACACAHGMLAEDGASCREYAGYLLYSERTILKSIHLSDERNL
  NAPVQPFEDPEHMKNVIALAFDYRAGTSPGTPNRIFFSDIHFGNIQQINDDGSRRITIVE
  NVGSVEGLAYHRGWDTLYWTSYTTSTITRHTVDQTRPGAFERETVITMSGDDHPRAFVLD
  ECQNLMFWTNWNEQHPSIMRAALSGANVLTLIEKDIRTPNGLAIDHRAEKLYFSDATLDK
  IERCEYDGSHRYVILKSEPVHPFGLAVYGEHIFWTDWVRRAVQRANKHVGSNMKLLRVDI
  PQQPMGIIAVANDTNSCELSPCRINNGGCQDLCLLTHQGHVNCSCRGGRILQDDLTCRAV
  NSSCRAQDEFECANGECINFSLTCDGVPHCKDKSDEKPSYCNSRRCKKTFRQCSNGRCVS
  NMLWCNGADDCGDGSDEIPCNKTACGVGEFRCRDGTCIGNSSRCNQFVDCEDASDEMNCS
  ATDCSSYFRLGVKGVLFQPCERTSLCYAPSWVCDGANDCGDYSDERDCPGVKRPRCPLNY
  FACPSGRCIPMSWTCDKEDDCEHGEDETHCNKFCSEAQFECQNHRCISKQWLCDGSDDCG
  DGSDEAAHCEGKTCGPSSFSCPGTHVCVPERWLCDGDKDCADGADESIAAGCLYNSTCDD
  REFMCQNRQCIPKHFVCDHDRDCADGSDESPECEYPTCGPSEFRCANGRCLSSRQWECDG
  ENDCHDQSDEAPKNPHCTSQEHKCNASSQFLCSSGRCVAEALLCNGQDDCGDSSDERGCH
  INECLSRKLSGCSQDCEDLKIGFKCRCRPGFRLKDDGRTCADVDECSTTFPCSQRCINTH
  GSYKCLCVEGYAPRGGDPHSCKAVTDEEPFLIFANRYYLRKLNLDGSNYTLLKQGLNNAV
  ALDFDYREQMIYWTDVTTQGSMIRRMHLNGSNVQVLHRTGLSNPDGLAVDWVGGNLYWCD
  KGRDTIEVSKLNGAYRTVLVSSGLREPRALVVDVQNGYLYWTDWGDHSLIGRIGMDGSSR
  SVIVDTKITWPNGLTLDYVTERIYWADAREDYIEFASLDGSNRHVVLSQDIPHIFALTLF
  EDYVYWTDWETKSINRAHKTTGTNKTLLISTLHRPMDLHVFHALRQPDVPNHPCKVNNGG
  CSNLCLLSPGGGHKCACPTNFYLGSDGRTCVSNCTASQFVCKNDKCIPFWWKCDTEDDCG
  DHSDEPPDCPEFKCRPGQFQCSTGICTNPAFICDGDNDCQDNSDEANCDIHVCLPSQFKC
  TNTNRCIPGIFRCNGQDNCGDGEDERDCPEVTCAPNQFQCSITKRCIPRVWVCDRDNDCV
  DGSDEPANCTQMTCGVDEFRCKDSGRCIPARWKCDGEDDCGDGSDEPKEECDERTCEPYQ
  FRCKNNRCVPGRWQCDYDNDCGDNSDEESCTPRPCSESEFSCANGRCIAGRWKCDGDHDC
  ADGSDEKDCTPRCDMDQFQCKSGHCIPLRWRCDADADCMDGSDEEACGTGVRTCPLDEFQ
  CNNTLCKPLAWKCDGEDDCGDNSDENPEECARFVCPPNRPFRCKNDRVCLWIGRQCDGTD
  NCGDGTDEEDCEPPTAHTTHCKDKKEFLCRNQRCLSSSLRCNMFDDCGDGSDEEDCSIDP
  KLTSCATNASICGDEARCVRTEKAAYCACRSGFHTVPGQPGCQDINECLRFGTCSQLCNN
  TKGGHLCSCARNFMKTHNTCKAEGSEYQVLYIADDNEIRSLFPGHPHSAYEQAFQGDESV
  RIDAMDVHVKAGRVYWTNWHTGTISYRSLPPAAPPTTSNRHRRQIDRGVTHLNISGLKMP
  RGIAIDWVAGNVYWTDSGRDVIEVAQMKGENRKTLISGMIDEPHAIVVDPLRGTMYWSDW
  GNHPKIETAAMDGTLRETLVQDNIQWPTGLAVDYHNERLYWADAKLSVIGSIRLNGTDPI
  VAADSKRGLSHPFSIDVFEDYIYGVTYINNRVFKIHKFGHSPLVNLTGGLSHASDVVLYH
  QHKQPEVTNPCDRKKCEWLCLLSPSGPVCTCPNGKRLDNGTCVPVPSPTPPPDAPRPGTC
  NLQCFNGGSCFLNARRQPKCRCQPRYTGDKCELDQCWEHCRNGGTCAASPSGMPTCRCPT
  GFTGPKCTQQVCAGYCANNSTCTVNQGNQPQCRCLPGFLGDRCQYRQCSGYCENFGTCQM
  AADGSRQCRCTAYFEGSRCEVNKCSRCLEGACVVNKQSGDVTCNCTDGRVAPSCLTCVGH
  CSNGGSCTMNSKMMPECQCPPHMTGPRCEEHVFSQQQPGHIASILIPLLLLLLLVLVAGV
  VFWYKRRVQGAKGFQHQRMTNGAMNVEIGNPTYKMYEGGEPDDVGGLLDADFALDPDKPT
  NFTNPVYATLYMGGHGSRHSLASTDEKRELLGRGPEDEIGDPLA

• Sequence length: 4544

Pathways

KEGG Pathway	Reactome Pathway
Efferocytosis	Scavenging of heme from plasma
Cholesterol metabolism	Retinoid metabolism and transport
Alzheimer disease
Malaria

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
Atrophoderma vermiculatum	Pathogenic	rs483353013	RCV000119304	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Developmental dysplasia of the hip 3	Pathogenic	rs762970763, rs767319988, rs2548053933, rs200106514	RCV003493368 RCV003493369 RCV003493370 RCV003493371	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Global developmental delay	Likely pathogenic	rs2136703640	RCV001779398	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Keratosis pilaris	Pathogenic	rs483353013	RCV000258847	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations Show/Hide Unknown Diseases (59)
Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
Acute myeloid leukemia	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Adrenocortical carcinoma, hereditary	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ALZHEIMERS DISEASE	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANDROGENETIC ALOPECIA	—	GWAS catalog	30573740	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANEURYSM	—	GWAS catalog	39024449	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AORTIC ANEURYSM	—	GWAS catalog	34594039, 39024449	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ASTHMA	—	GWAS catalog	31669095, 36344522, 40155373	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATOPIC ASTHMA	—	GWAS catalog	31669095	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATOPIC ECZEMA	—	GWAS catalog	40164604	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATROPHODERMA VERMICULATA	—	GenCC, Orphanet GenCC, Orphanet	26142438, 26142438	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER	—	CTD	35663546	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDERS	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BURNETT SCHWARTZ BERBERIAN SYNDROME	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign; Likely benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHILDHOOD ONSET ASTHMA	—	GWAS catalog	31669095	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL ADENOMA	—	GWAS catalog	30510241	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Benign	ClinVar GWAS catalog	30510241, 31089142, 31826910, 36539618	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
COMMON MIGRAINE	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE	—	GWAS catalog	29212778, 32374345, 32887874, 37248441, 39024449	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ATHEROSCLEROSIS	—	GWAS catalog	39024449	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEVELOPMENTAL DISABILITIES	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Developmental disorder	Uncertain significance	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIVERTICULAR DISEASE	—	GWAS catalog	40155373	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Likely benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Uncertain significance	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GOUT	—	GWAS catalog	33462484	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign; Likely benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSOMNIA	—	GWAS catalog	35835914	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KERATOSIS FOLLICULARIS SPINULOSA DECALVANS	—	GWAS catalog, Orphanet GWAS catalog, Orphanet	26142438, 26142438	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Keratosis pilaris atrophicans	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LARGE ARTERY STROKE	—	GWAS catalog	35128049	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LRP1-related disorder	Benign; Uncertain significance; Likely benign; Conflicting classifications of pathogenicity	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Likely benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Likely benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Benign; Likely benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MIGRAINE DISORDER	—	GWAS catalog	21666692, 22683712, 23793025, 27182965, 27322543, 32632093, 34294844, 35115687, 35128049, 36939796, 39024449, 39789286	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MIGRAINE DISORDERS	—	CTD, Disgenet CTD, Disgenet	21666692	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MIGRAINE WITH AURA	—	GWAS catalog	32632093	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MIGRAINE WITHOUT AURA	—	CTD, GWAS catalog CTD, GWAS catalog	22683712, 35128049	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MOYAMOYA DISEASE	—	GWAS catalog	29273593	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOCARDIAL INFARCTION	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOCARDIAL ISCHEMIA	—	GWAS catalog	39024449	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEUROMUSCULAR DISEASES	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostate cancer	Uncertain significance	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog	21743468, 26039597, 26666178, 31094488, 35396580	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Tricuspid atresia	Uncertain significance	ClinVar Disgenet	—	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
UNIPOLAR DEPRESSION	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Variant of unknown significance	Uncertain significance	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ventricular septal defect	Uncertain significance	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VENTRICULAR SEPTAL DEFECTS	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Related Genes

Sort by: Blended Diseases Pathways Evidence source

DOT1L 3 shared diseasesAneurysm, Aortic aneurysm, Developmental disability 3 shared evidence sourcesGWAS catalog (Aneurysm), GWAS catalog (Aortic aneurysm), Disgenet (Developmental disability) Related via 3 shared diseases including Aneurysm, Aortic aneurysm — evidence mostly GWAS catalog. PSRC1 3 shared diseasesAneurysm, Aortic aneurysm, Large artery stroke 4 shared evidence sourcesGWAS catalog (Aneurysm), GWAS catalog (Aortic aneurysm), GWAS catalog (Large artery stroke), GWAS catalog (Myocardial ischemia) Related via 3 shared diseases including Aneurysm, Aortic aneurysm — evidence mostly GWAS catalog. GDF7 3 shared diseasesAneurysm, Aortic aneurysm, Diverticular disease 3 shared evidence sourcesGWAS catalog (Aneurysm), GWAS catalog (Aortic aneurysm), GWAS catalog (Diverticular disease) Related via 3 shared diseases including Aneurysm, Aortic aneurysm — evidence mostly GWAS catalog. PHACTR1 3 shared diseasesCommon migraine, Large artery stroke, Moyamoya disease 6 shared evidence sourcesDisgenet (Common migraine), GWAS catalog (Large artery stroke), Disgenet (Migraine), CTD (Migraine), Disgenet (Myocardial infarction), GWAS catalog (Myocardial ischemia) Related via 3 shared diseases including Common migraine, Large artery stroke — evidence mostly Disgenet. ZPR1 3 shared diseasesAneurysm, Aortic aneurysm, Large artery stroke 4 shared evidence sourcesGWAS catalog (Aneurysm), GWAS catalog (Aortic aneurysm), GWAS catalog (Large artery stroke), GWAS catalog (Myocardial ischemia) Related via 3 shared diseases including Aneurysm, Aortic aneurysm — evidence mostly GWAS catalog.

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathways	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
DOT1L	3	["Aneurysm","Aortic aneurysm","Developmental disability"]	0	[]	3	["GWAS catalog (Aneurysm)","GWAS catalog (Aortic aneurysm)","Disgenet (Developmental disability)"]
PSRC1	3	["Aneurysm","Aortic aneurysm","Large artery stroke"]	0	[]	4	["GWAS catalog (Aneurysm)","GWAS catalog (Aortic aneurysm)","GWAS catalog (Large artery stroke)","GWAS catalog (Myocardial ischemia)"]
GDF7	3	["Aneurysm","Aortic aneurysm","Diverticular disease"]	0	[]	3	["GWAS catalog (Aneurysm)","GWAS catalog (Aortic aneurysm)","GWAS catalog (Diverticular disease)"]
PHACTR1	3	["Common migraine","Large artery stroke","Moyamoya disease"]	0	[]	6	["Disgenet (Common migraine)","GWAS catalog (Large artery stroke)","Disgenet (Migraine)","CTD (Migraine)","Disgenet (Myocardial infarction)","GWAS catalog (Myocardial ischemia)"]
ZPR1	3	["Aneurysm","Aortic aneurysm","Large artery stroke"]	0	[]	4	["GWAS catalog (Aneurysm)","GWAS catalog (Aortic aneurysm)","GWAS catalog (Large artery stroke)","GWAS catalog (Myocardial ischemia)"]

Diseases Linked via Similar Genes

Diabetes mellitus type 2 Linked via 4 of 5 related genesPSRC1, GDF7, PHACTR1, ZPR1 Heart disease Linked via 3 of 5 related genesPSRC1, PHACTR1, ZPR1 Heart failure Linked via 3 of 5 related genesPSRC1, PHACTR1, ZPR1 Metabolic syndrome Linked via 3 of 5 related genesPSRC1, PHACTR1, ZPR1 Stroke Linked via 3 of 5 related genesPSRC1, PHACTR1, ZPR1

Disease	Linked Via (Gene Count)	Linked Via (Gene Names)
Diabetes mellitus type 2	4	["PSRC1","GDF7","PHACTR1","ZPR1"]
Heart disease	3	["PSRC1","PHACTR1","ZPR1"]
Heart failure	3	["PSRC1","PHACTR1","ZPR1"]
Metabolic syndrome	3	["PSRC1","PHACTR1","ZPR1"]
Stroke	3	["PSRC1","PHACTR1","ZPR1"]