Gene

LDLR

HGNC: HGNC:6547 | GeneCards: LDLR

None recorded

0ClinVar pathogenic / likely pathogenic

Co-reported phenotypes

Phenotypes named in the same articles as LDLR. Co-mention, not a proven association.

Phenotype	Articles	Evidence
familial hypercholesterolemia	40	View sentences
coronary artery disease	8	View sentences
dyslipidemia	6	View sentences
diabetes mellitus	5	View sentences
hypertension	4	View sentences
obesity	4	View sentences
myocardial infarction	3	View sentences
Down syndrome	2	View sentences
asthma	2	View sentences
autism spectrum disorder	2	View sentences
breast cancer	2	View sentences
colorectal cancer	2	View sentences
hepatocellular carcinoma	2	View sentences
inflammatory bowel disease	2	View sentences
leukemia	2	View sentences
ovarian cancer	2	View sentences
stroke	2	View sentences
Alstrom syndrome	1	View sentences
Alzheimer disease	1	View sentences
Klinefelter syndrome	1	View sentences
Leber congenital amaurosis	1	View sentences
SARS	1	View sentences
arrhythmia	1	View sentences
congenital cataract	1	View sentences
epilepsy	1	View sentences

and 14 more

Variants linked to LDLR through dbSNP or LitVar2. ClinVar status is shown for core-subset variants.

Variant	rsID	Articles	ClinVar
p.D477N	-	2	-
p.D492N	-	2	-
c.1731G>T	-	1	-
p.R595W	-	1	-
p.Y419D	-	1	-
rs2228671	rs2228671	1	-
rs5925	rs5925	1	-
rs5930	rs5930	1	-
rs6511720	rs6511720	1	-
rs688	rs688	1	-
rs72658855	rs72658855	1	-

Regions or cities named in the abstracts of articles that mention LDLR.