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	26119
Gene name	Low density lipoprotein receptor adaptor protein 1
Gene symbol	LDLRAP1
Synonyms (NCBI Gene)	ARHARH1ARH2FHCB1FHCB2FHCL4
Chromosome	1
Chromosome location	1p36.11
Summary	The protein encoded by this gene is a cytosolic protein which contains a phosphotyrosine binding (PTD) domain. The PTD domain has been found to interact with the cytoplasmic tail of the LDL receptor. Mutations in this gene lead to LDL receptor malfunction

Show/Hide all (18)

SNP ID	Visualize variation	Clinical significance	Consequence
rs41291058	C>T	Benign, conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, intron variant, missense variant, non coding transcript variant
rs114583297	C>T	Conflicting-interpretations-of-pathogenicity, benign	Non coding transcript variant, missense variant, intron variant, coding sequence variant
rs121908324	G>A,C,T	Pathogenic	Missense variant, stop gained, coding sequence variant, upstream transcript variant, genic upstream transcript variant, non coding transcript variant
rs121908325	C>T	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs121908326	C>A,G	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Non coding transcript variant, missense variant, intron variant, coding sequence variant
rs139877665	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Non coding transcript variant, missense variant, coding sequence variant
rs140170877	C>G,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, synonymous variant, non coding transcript variant
rs750383461	->A	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs753151497	C>T	Pathogenic	Coding sequence variant, missense variant, non coding transcript variant, 3 prime UTR variant, intron variant
rs755104973	G>C	Pathogenic	Splice acceptor variant
rs763778803	AC>-	Likely-pathogenic	Non coding transcript variant, frameshift variant, 5 prime UTR variant, coding sequence variant
rs777648532	C>A,T	Pathogenic	Coding sequence variant, synonymous variant, stop gained, non coding transcript variant
rs781585299	->C,CC	Pathogenic	Coding sequence variant, intron variant, frameshift variant, non coding transcript variant
rs1201229554	G>-	Pathogenic, likely-pathogenic	Upstream transcript variant, non coding transcript variant, coding sequence variant, genic upstream transcript variant, frameshift variant
rs1461905374	T>G	Pathogenic	Splice donor variant
rs1553170279	->G	Pathogenic	Upstream transcript variant, non coding transcript variant, genic upstream transcript variant, frameshift variant, coding sequence variant
rs1557703339	->A	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs1572052376	A>-	Likely-pathogenic	Coding sequence variant, intron variant, non coding transcript variant, frameshift variant

220

Show/Hide all (220)

miRTarBase ID	miRNA	Experiments	Reference
MIRT004928	hsa-miR-124-3p	Microarray	15685193
MIRT021470	hsa-miR-9-5p	Microarray	17612493
MIRT004928	hsa-miR-124-3p	Microarray	15685193
MIRT004928	hsa-miR-124-3p	Microarray	18668037
MIRT049748	hsa-miR-92a-3p	CLASH	23622248
MIRT040455	hsa-miR-615-3p	CLASH	23622248
MIRT1106817	hsa-miR-103a	CLIP-seq
MIRT1106818	hsa-miR-107	CLIP-seq
MIRT1106819	hsa-miR-1184	CLIP-seq
MIRT1106820	hsa-miR-1205	CLIP-seq
MIRT1106821	hsa-miR-1228	CLIP-seq
MIRT1106822	hsa-miR-1233	CLIP-seq
MIRT1106823	hsa-miR-1238	CLIP-seq
MIRT1106824	hsa-miR-1253	CLIP-seq
MIRT1106825	hsa-miR-1266	CLIP-seq
MIRT1106826	hsa-miR-1271	CLIP-seq
MIRT1106827	hsa-miR-1287	CLIP-seq
MIRT1106828	hsa-miR-1323	CLIP-seq
MIRT1106829	hsa-miR-155	CLIP-seq
MIRT1106830	hsa-miR-182	CLIP-seq
MIRT1106831	hsa-miR-1976	CLIP-seq
MIRT1106832	hsa-miR-2053	CLIP-seq
MIRT1106833	hsa-miR-2467-5p	CLIP-seq
MIRT1106834	hsa-miR-29a	CLIP-seq
MIRT1106835	hsa-miR-29b	CLIP-seq
MIRT1106836	hsa-miR-29c	CLIP-seq
MIRT1106837	hsa-miR-3065-3p	CLIP-seq
MIRT1106838	hsa-miR-3119	CLIP-seq
MIRT1106839	hsa-miR-3120-3p	CLIP-seq
MIRT1106840	hsa-miR-3121-3p	CLIP-seq
MIRT1106841	hsa-miR-3125	CLIP-seq
MIRT1106842	hsa-miR-3135b	CLIP-seq
MIRT1106843	hsa-miR-3148	CLIP-seq
MIRT1106844	hsa-miR-3158-5p	CLIP-seq
MIRT1106845	hsa-miR-3166	CLIP-seq
MIRT1106846	hsa-miR-3173-3p	CLIP-seq
MIRT1106847	hsa-miR-3175	CLIP-seq
MIRT1106848	hsa-miR-3188	CLIP-seq
MIRT1106849	hsa-miR-346	CLIP-seq
MIRT1106850	hsa-miR-34b	CLIP-seq
MIRT1106851	hsa-miR-3612	CLIP-seq
MIRT1106852	hsa-miR-3661	CLIP-seq
MIRT1106853	hsa-miR-3689d	CLIP-seq
MIRT1106854	hsa-miR-370	CLIP-seq
MIRT1106855	hsa-miR-3714	CLIP-seq
MIRT1106856	hsa-miR-378	CLIP-seq
MIRT1106857	hsa-miR-378b	CLIP-seq
MIRT1106858	hsa-miR-378c	CLIP-seq
MIRT1106859	hsa-miR-378d	CLIP-seq
MIRT1106860	hsa-miR-378e	CLIP-seq
MIRT1106861	hsa-miR-378f	CLIP-seq
MIRT1106862	hsa-miR-378h	CLIP-seq
MIRT1106863	hsa-miR-378i	CLIP-seq
MIRT1106864	hsa-miR-3910	CLIP-seq
MIRT1106865	hsa-miR-3916	CLIP-seq
MIRT1106866	hsa-miR-3919	CLIP-seq
MIRT1106867	hsa-miR-3922-5p	CLIP-seq
MIRT1106868	hsa-miR-422a	CLIP-seq
MIRT1106869	hsa-miR-425	CLIP-seq
MIRT1106870	hsa-miR-4272	CLIP-seq
MIRT1106871	hsa-miR-4277	CLIP-seq
MIRT1106872	hsa-miR-4288	CLIP-seq
MIRT1106873	hsa-miR-4420	CLIP-seq
MIRT1106874	hsa-miR-4422	CLIP-seq
MIRT1106875	hsa-miR-4427	CLIP-seq
MIRT1106876	hsa-miR-4434	CLIP-seq
MIRT1106877	hsa-miR-4443	CLIP-seq
MIRT1106878	hsa-miR-4447	CLIP-seq
MIRT1106879	hsa-miR-4459	CLIP-seq
MIRT1106880	hsa-miR-4472	CLIP-seq
MIRT1106881	hsa-miR-4480	CLIP-seq
MIRT1106882	hsa-miR-4516	CLIP-seq
MIRT1106883	hsa-miR-4518	CLIP-seq
MIRT1106884	hsa-miR-451b	CLIP-seq
MIRT1106885	hsa-miR-4642	CLIP-seq
MIRT1106886	hsa-miR-4651	CLIP-seq
MIRT1106887	hsa-miR-4668-5p	CLIP-seq
MIRT1106888	hsa-miR-4687-5p	CLIP-seq
MIRT1106889	hsa-miR-4695-5p	CLIP-seq
MIRT1106890	hsa-miR-4696	CLIP-seq
MIRT1106891	hsa-miR-4711-5p	CLIP-seq
MIRT1106892	hsa-miR-4719	CLIP-seq
MIRT1106893	hsa-miR-4722-3p	CLIP-seq
MIRT1106894	hsa-miR-4729	CLIP-seq
MIRT1106895	hsa-miR-4731-5p	CLIP-seq
MIRT1106896	hsa-miR-4771	CLIP-seq
MIRT1106897	hsa-miR-4795-3p	CLIP-seq
MIRT1106898	hsa-miR-4797-5p	CLIP-seq
MIRT1106899	hsa-miR-4802-5p	CLIP-seq
MIRT1106900	hsa-miR-513b	CLIP-seq
MIRT1106901	hsa-miR-548ad	CLIP-seq
MIRT1106902	hsa-miR-548c-3p	CLIP-seq
MIRT1106903	hsa-miR-548o	CLIP-seq
MIRT1106904	hsa-miR-548v	CLIP-seq
MIRT1106905	hsa-miR-552	CLIP-seq
MIRT1106906	hsa-miR-561	CLIP-seq
MIRT1106907	hsa-miR-569	CLIP-seq
MIRT1106908	hsa-miR-607	CLIP-seq
MIRT1106909	hsa-miR-608	CLIP-seq
MIRT1106910	hsa-miR-625	CLIP-seq
MIRT1106911	hsa-miR-631	CLIP-seq
MIRT1106912	hsa-miR-632	CLIP-seq
MIRT1106913	hsa-miR-637	CLIP-seq
MIRT1106914	hsa-miR-646	CLIP-seq
MIRT1106915	hsa-miR-650	CLIP-seq
MIRT1106916	hsa-miR-765	CLIP-seq
MIRT1106917	hsa-miR-767-5p	CLIP-seq
MIRT1106918	hsa-miR-96	CLIP-seq
MIRT2029467	hsa-miR-133a	CLIP-seq
MIRT2029468	hsa-miR-133b	CLIP-seq
MIRT2029469	hsa-miR-2278	CLIP-seq
MIRT2029470	hsa-miR-3158-3p	CLIP-seq
MIRT1106846	hsa-miR-3173-3p	CLIP-seq
MIRT1106870	hsa-miR-4272	CLIP-seq
MIRT2029471	hsa-miR-4303	CLIP-seq
MIRT1106879	hsa-miR-4459	CLIP-seq
MIRT2029472	hsa-miR-4463	CLIP-seq
MIRT2029473	hsa-miR-4494	CLIP-seq
MIRT2029474	hsa-miR-4722-5p	CLIP-seq
MIRT2029475	hsa-miR-4756-3p	CLIP-seq
MIRT2029476	hsa-miR-4768-3p	CLIP-seq
MIRT1106896	hsa-miR-4771	CLIP-seq
MIRT2029477	hsa-miR-659	CLIP-seq
MIRT2029478	hsa-miR-892b	CLIP-seq
MIRT2029479	hsa-miR-9	CLIP-seq
MIRT2260364	hsa-miR-106a	CLIP-seq
MIRT2260365	hsa-miR-106b	CLIP-seq
MIRT1106819	hsa-miR-1184	CLIP-seq
MIRT2260366	hsa-miR-1197	CLIP-seq
MIRT1106820	hsa-miR-1205	CLIP-seq
MIRT2260367	hsa-miR-1207-5p	CLIP-seq
MIRT2260368	hsa-miR-1231	CLIP-seq
MIRT1106824	hsa-miR-1253	CLIP-seq
MIRT2260369	hsa-miR-1273f	CLIP-seq
MIRT2029467	hsa-miR-133a	CLIP-seq
MIRT2029468	hsa-miR-133b	CLIP-seq
MIRT1106829	hsa-miR-155	CLIP-seq
MIRT2260370	hsa-miR-17	CLIP-seq
MIRT2260371	hsa-miR-1909	CLIP-seq
MIRT2260372	hsa-miR-1915	CLIP-seq
MIRT2260373	hsa-miR-20a	CLIP-seq
MIRT2260374	hsa-miR-20b	CLIP-seq
MIRT2029469	hsa-miR-2278	CLIP-seq
MIRT2260375	hsa-miR-28-5p	CLIP-seq
MIRT2260376	hsa-miR-296-5p	CLIP-seq
MIRT2260377	hsa-miR-3065-5p	CLIP-seq
MIRT1106839	hsa-miR-3120-3p	CLIP-seq
MIRT1106841	hsa-miR-3125	CLIP-seq
MIRT2260378	hsa-miR-3139	CLIP-seq
MIRT2260379	hsa-miR-3141	CLIP-seq
MIRT2260380	hsa-miR-3155	CLIP-seq
MIRT2260381	hsa-miR-3155b	CLIP-seq
MIRT1106844	hsa-miR-3158-5p	CLIP-seq
MIRT1106845	hsa-miR-3166	CLIP-seq
MIRT1106847	hsa-miR-3175	CLIP-seq
MIRT2260382	hsa-miR-3192	CLIP-seq
MIRT2260383	hsa-miR-33a	CLIP-seq
MIRT2260384	hsa-miR-33b	CLIP-seq
MIRT1106849	hsa-miR-346	CLIP-seq
MIRT2260385	hsa-miR-3609	CLIP-seq
MIRT1106851	hsa-miR-3612	CLIP-seq
MIRT2260386	hsa-miR-361-3p	CLIP-seq
MIRT2260387	hsa-miR-3689a-3p	CLIP-seq
MIRT2260388	hsa-miR-3689c	CLIP-seq
MIRT1106855	hsa-miR-3714	CLIP-seq
MIRT2260389	hsa-miR-371-5p	CLIP-seq
MIRT1106865	hsa-miR-3916	CLIP-seq
MIRT1106866	hsa-miR-3919	CLIP-seq
MIRT2260390	hsa-miR-3929	CLIP-seq
MIRT1106872	hsa-miR-4288	CLIP-seq
MIRT2029471	hsa-miR-4303	CLIP-seq
MIRT2260391	hsa-miR-4313	CLIP-seq
MIRT2260392	hsa-miR-4419b	CLIP-seq
MIRT1106873	hsa-miR-4420	CLIP-seq
MIRT2260393	hsa-miR-4433	CLIP-seq
MIRT1106876	hsa-miR-4434	CLIP-seq
MIRT2260394	hsa-miR-4436b-3p	CLIP-seq
MIRT1106879	hsa-miR-4459	CLIP-seq
MIRT2029472	hsa-miR-4463	CLIP-seq
MIRT2260395	hsa-miR-4468	CLIP-seq
MIRT2260396	hsa-miR-4478	CLIP-seq
MIRT1106881	hsa-miR-4480	CLIP-seq
MIRT2260397	hsa-miR-4493	CLIP-seq
MIRT2029473	hsa-miR-4494	CLIP-seq
MIRT2260398	hsa-miR-4514	CLIP-seq
MIRT1106882	hsa-miR-4516	CLIP-seq
MIRT2260399	hsa-miR-4534	CLIP-seq
MIRT2260400	hsa-miR-4688	CLIP-seq
MIRT2260401	hsa-miR-4692	CLIP-seq
MIRT1106889	hsa-miR-4695-5p	CLIP-seq
MIRT2260402	hsa-miR-4728-3p	CLIP-seq
MIRT2260403	hsa-miR-4728-5p	CLIP-seq
MIRT2260404	hsa-miR-4753-5p	CLIP-seq
MIRT2029475	hsa-miR-4756-3p	CLIP-seq
MIRT2260405	hsa-miR-4763-3p	CLIP-seq
MIRT2029476	hsa-miR-4768-3p	CLIP-seq
MIRT1106896	hsa-miR-4771	CLIP-seq
MIRT2260406	hsa-miR-4796-3p	CLIP-seq
MIRT1106898	hsa-miR-4797-5p	CLIP-seq
MIRT2260407	hsa-miR-484	CLIP-seq
MIRT2260408	hsa-miR-499a-5p	CLIP-seq
MIRT2260409	hsa-miR-5096	CLIP-seq
MIRT2260410	hsa-miR-519d	CLIP-seq
MIRT2260411	hsa-miR-548ah	CLIP-seq
MIRT1106904	hsa-miR-548v	CLIP-seq
MIRT1106907	hsa-miR-569	CLIP-seq
MIRT1106912	hsa-miR-632	CLIP-seq
MIRT1106915	hsa-miR-650	CLIP-seq
MIRT2260412	hsa-miR-708	CLIP-seq
MIRT1106916	hsa-miR-765	CLIP-seq
MIRT2260413	hsa-miR-873	CLIP-seq
MIRT2260414	hsa-miR-888	CLIP-seq
MIRT2029478	hsa-miR-892b	CLIP-seq
MIRT2029479	hsa-miR-9	CLIP-seq
MIRT2260415	hsa-miR-93	CLIP-seq
MIRT2260416	hsa-miR-940	CLIP-seq
MIRT2260372	hsa-miR-1915	CLIP-seq
MIRT1106846	hsa-miR-3173-3p	CLIP-seq
MIRT2390085	hsa-miR-4428	CLIP-seq
MIRT2390086	hsa-miR-4726-3p	CLIP-seq

Show/Hide all (46)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001540	Function	Amyloid-beta binding	IEA
GO:0001540	Function	Amyloid-beta binding	IPI	12805363
GO:0001784	Function	Phosphotyrosine residue binding	IDA	12451172
GO:0005515	Function	Protein binding	IPI	12221107, 16189514, 25416956, 25910212, 27107012, 28514442, 32296183, 33961781
GO:0005546	Function	Phosphatidylinositol-4,5-bisphosphate binding	IDA	12451172
GO:0005737	Component	Cytoplasm	IEA
GO:0005769	Component	Early endosome	IBA
GO:0005769	Component	Early endosome	IDA	14528014
GO:0005769	Component	Early endosome	IEA
GO:0005829	Component	Cytosol	IDA	12451172
GO:0005883	Component	Neurofilament	IEA
GO:0005883	Component	Neurofilament	ISS	17727637
GO:0005886	Component	Plasma membrane	TAS
GO:0006629	Process	Lipid metabolic process	IEA
GO:0006897	Process	Endocytosis	IEA
GO:0006898	Process	Receptor-mediated endocytosis	IDA	14528014
GO:0008202	Process	Steroid metabolic process	IEA
GO:0008203	Process	Cholesterol metabolic process	IEA
GO:0008203	Process	Cholesterol metabolic process	NAS	12451172
GO:0009898	Component	Cytoplasmic side of plasma membrane	IDA	14528014
GO:0009925	Component	Basal plasma membrane	IDA	12451172
GO:0030159	Function	Signaling receptor complex adaptor activity	IMP	15166224
GO:0030276	Function	Clathrin binding	IDA	12221107, 12451172
GO:0030301	Process	Cholesterol transport	NAS	12451172
GO:0030424	Component	Axon	ISS
GO:0030669	Component	Clathrin-coated endocytic vesicle membrane	TAS
GO:0031623	Process	Receptor internalization	IMP	15166224
GO:0034383	Process	Low-density lipoprotein particle clearance	IMP	12417523, 12464675, 15166224
GO:0035591	Function	Signaling adaptor activity	IDA	12221107
GO:0035612	Function	AP-2 adaptor complex binding	IDA	12451172, 15728179
GO:0035615	Function	Clathrin adaptor activity	IDA	15728179
GO:0035650	Function	AP-1 adaptor complex binding	IDA	12451172
GO:0042632	Process	Cholesterol homeostasis	IEA
GO:0042632	Process	Cholesterol homeostasis	IMP	15166224
GO:0042982	Process	Amyloid precursor protein metabolic process	IMP	12805363
GO:0043393	Process	Regulation of protein binding	IMP	15166224
GO:0048260	Process	Positive regulation of receptor-mediated endocytosis	IMP	15166224
GO:0050750	Function	Low-density lipoprotein particle receptor binding	IPI	12221107, 14528014
GO:0055037	Component	Recycling endosome	IDA	14528014
GO:0071345	Process	Cellular response to cytokine stimulus	IMP	28257760
GO:0090118	Process	Receptor-mediated endocytosis involved in cholesterol transport	IMP	12417523, 12464675, 15166224
GO:0090205	Process	Positive regulation of cholesterol metabolic process	IC	15166224
GO:1903076	Process	Regulation of protein localization to plasma membrane	IMP	12805363
GO:1904707	Process	Positive regulation of vascular associated smooth muscle cell proliferation	IMP	28257760
GO:1905581	Process	Positive regulation of low-density lipoprotein particle clearance	IMP	28257760
GO:1905602	Process	Positive regulation of receptor-mediated endocytosis involved in cholesterol transport	IMP	12417523, 12464675, 15166224

MIM	HGNC	e!Ensembl
605747	18640	ENSG00000157978

Q5SW96

Protein name

Low density lipoprotein receptor adapter protein 1 (Autosomal recessive hypercholesterolemia protein)

Protein function

Adapter protein (clathrin-associated sorting protein (CLASP)) required for efficient endocytosis of the LDL receptor (LDLR) in polarized cells such as hepatocytes and lymphocytes, but not in non-polarized cells (fibroblasts). May be required for

PDB

2G30

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF14719	PID_2	47 → 222	Phosphotyrosine interaction domain (PTB/PID)	Domain

Tissue specificity

TISSUE SPECIFICITY: Expressed at high levels in the kidney, liver, and placenta, with lower levels detectable in brain, heart, muscle, colon, spleen, intestine, lung, and leukocytes.

Sequence

MDALKSAGRALIRSPSLAKQSWGGGGRHRKLPENWTDTRETLLEGMLFSLKYLGMTLVEQ
PKGEELSAAAIKRIVATAKASGKKLQKVTLKVSPRGIILTDNLTNQLIENVSIYRISYCT
ADKMHDKVFAYIAQSQHNQSLECHAFLCTKRKMAQAVTLTVAQAFKVAFEFWQVSKEEKE
KRDKASQEGGDVLGARQDCTPSLKSLVATGNLLDLEETAKAPLSTVSANTTNMDEVPRPQ
ALSGSSVVWELDDGLDEAFSRLAQSRTNPQVLDTGLTAQDMHYAQCLSPVDWDKPDSSGT
EQDDLFSF

Sequence length

308

Interactions

View interactions

	KEGG		Reactome
	Endocytosis Cholesterol metabolism		Cargo recognition for clathrin-mediated endocytosis Clathrin-mediated endocytosis Chylomicron clearance LDL clearance

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
Autosomal recessive inheritance	Pathogenic	rs2044402416	RCV001292554	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cardiovascular phenotype	Likely pathogenic; Pathogenic	rs868193249, rs545662810, rs2524111305, rs2524136302, rs2043857269, rs121908325, rs781585299, rs1019504966, rs1201229554, rs750383461	RCV005660198 RCV002458607 RCV002358257 RCV002391524 RCV002455605 View all (5 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Familial hypercholesterolemia	Pathogenic; Likely pathogenic	rs2524111305, rs121908325, rs755104973, rs781585299, rs1430518299, rs1201229554, rs762148512	RCV005438144 RCV001826419 RCV001826420 RCV001277156 RCV004690450 RCV001829587 RCV001832468 RCV001828742 View all (3 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hypercholesterolemia, familial, 4	Likely pathogenic; Pathogenic	rs868193249, rs751920586, rs2044223568, rs545662810, rs2124663461, rs2044386296, rs2124688583, rs2044138456, rs2044137351, rs2124690250, rs2124633546, rs758321083, rs2044164295, rs121908324, rs1557703339 View all (31 more)	RCV001877509 RCV001388351 RCV001384634 RCV001782379 RCV001900847 View all (42 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (10)

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.
HEAD AND NECK MALIGNANT NEOPLASIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERCHOLESTEROLEMIA, FAMILIAL	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypercholesterolemia, familial, 1	Benign; Uncertain significance; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERLIPOPROTEINEMIA TYPE IIA	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERLIPOPROTEINEMIA TYPE III	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LDLRAP1-related disorder	Likely benign; Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OROPHARYNX CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UPPER AERODIGESTIVE TRACT NEOPLASM	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (56)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Alzheimer Disease	Alzheimer disease	Pubtator	12805363	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	17686643, 21778424		★★★★★ ★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	17686643, 21778424, 21872251, 29348020, 31734096		★★★★★ ★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	25077680		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	BEFREE	30429362		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular disease	Pubtator	32084179	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebral artery atherosclerosis	Cerebral artery atherosclerosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	21071514		★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary Aneurysm	Coronary Aneurysm	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	Pubtator	37848354	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	20124734	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dyslipidemias	Dyslipidemias	BEFREE	12642779		★★★★★ ★☆☆☆☆ Found in Text Mining only
Epithelial ovarian cancer	Ovarian cancer	BEFREE	25077680		★★★★★ ★☆☆☆☆ Found in Text Mining only
Familial hypercholesterolemia - homozygous	Hypercholesterolemia	ORPHANET_DG	11326085		★★★★★ ★☆☆☆☆ Found in Text Mining only
Familial hypercholesterolemia - homozygous	Hypercholesterolemia	BEFREE	15274677, 16343504, 17150201, 29245109, 29396260		★★★★★ ★☆☆☆☆ Found in Text Mining only
Fatty Liver	Fatty Liver	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Head and Neck Neoplasms	Head and neck neoplasm	Pubtator	22986368	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic Neoplasms	BEFREE	12177100		★★★★★ ★☆☆☆☆ Found in Text Mining only
Homozygous familial hypercholesterolemia	Homozygous Hypercholesterolemia	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypercholesterolemia	Hypercholesterolemia	BEFREE	11897284, 12535754, 20124734, 21872251, 23510778		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypercholesterolemia	Hypercholesterolemia	GENOMICS_ENGLAND_DG	12417523		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypercholesterolemia	Hypercholesterolemia	LHGDN	12451172, 12464675, 16870701, 17686643		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypercholesterolemia	Hypercholesterolemia	Pubtator	16129683, 20124734, 37848354	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypercholesterolemia	Hypercholesterolemia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
HYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE	Hypercholesterolemia	CLINVAR_DG	11326085, 12016260, 12464675, 12788851, 15485476, 21872251, 22157599, 27247956		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE	Hypercholesterolemia	UNIPROT_DG	11326085		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE	Hypercholesterolemia	BEFREE	12221107, 12464675, 12642779, 12958046, 15497461, 15599766, 16343504, 17686643, 17761685, 19477448, 21778424, 21872251, 24072694, 25225128, 25670367 View all (7 more)		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE	Hypercholesterolemia	GENOMICS_ENGLAND_DG	12417523, 29245109		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE	Hypercholesterolemia	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypercholesterolemia, Familial	Hypercholesterolemia	BEFREE	12016260, 15530918, 21872251, 23054246, 23510778, 28577571, 29153781, 29720182, 30270081, 30415195, 30910740, 31734096		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypercholesterolemia, Familial	Hypercholesterolemia	GENOMICS_ENGLAND_DG	12417523		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperlipidemia	Hyperlipidemia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperlipoproteinemia Type II	Hyperlipoproteinemia	Pubtator	20124734, 26415676, 28958330, 29561990, 29720182, 30269829, 30593551, 30637778, 30971288, 32878475, 34011801, 34425670, 35052492, 36648309, 37217153, 38122934 View all (1 more)	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperlipoproteinemia Type IIa	Hyperlipoproteinemia	BEFREE	12016260, 15530918, 17150201, 21872251, 23510778, 28577571, 29153781, 29720182, 30270081, 30415195, 30910740, 31734096		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperlipoproteinemia Type III	Hyperlipoproteinemia	Pubtator	10677305, 12464675, 28965616, 31427613, 31734096	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertensive disease	Hypertension	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Lipid Metabolism Disorders	Lipid Metabolism Disorders	BEFREE	19477448, 29153781		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	29654211		★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	10216101, 12560229, 29654211, 31693515, 8391243		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	24906453, 30971288		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial infarction	Pubtator	30637778, 30971288	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Myocardial Ischemia	Myocardial ischemia	Pubtator	37848354	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Carcinoma	Nasopharyngeal carcinoma	Pubtator	22986368	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	29228209, 30267646, 31571982, 31693515, 8391243, 9192768		★★★★★ ★☆☆☆☆ Found in Text Mining only
Peripheral arterial stenosis	Peripheral arterial stenosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Premature arteriosclerosis	Arteriosclerosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Primary Ciliary Dyskinesia	Ciliary dyskinesia	BEFREE	8391243		★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal Artery Stenosis	Renal Artery Stenosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal steatosis	Renal steatosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Severe Combined Immunodeficiency	Severe combined immunodeficiency disease	BEFREE	8391243		★★★★★ ★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Supravalvular aortic stenosis	Supravalvar aortic stenosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Xanthoma	Xanthoma	BEFREE	21872251		★★★★★ ★☆☆☆☆ Found in Text Mining only
Xanthoma tendinosum	Xanthoma Tendinosum	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only

LDLRAP1 (low density lipoprotein receptor adaptor protein 1)