familial hypercholesterolemia Gene Set

Dataset DISEASES Text-mining Gene-Disease Assocation Evidence Scores
Category disease or phenotype associations
Type disease
Description A familial hyperlipidemia characterized by very high levels of low-density lipoprotein (LDL) and early cardiovascular disease. (Human Disease Ontology, DOID_13810)
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43 genes co-occuring with the disease familial hypercholesterolemia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

Symbol Name Standardized Value
LDLR low density lipoprotein receptor 2.79603
PCSK9 proprotein convertase subtilisin/kexin type 9 2.2816
APOB apolipoprotein B 2.21858
COG2 component of oligomeric golgi complex 2 1.58626
LDLRAP1 low density lipoprotein receptor adaptor protein 1 1.08454
HMGCR 3-hydroxy-3-methylglutaryl-CoA reductase 0.862637
LPA lipoprotein, Lp(a) 0.832329
MTTP microsomal triglyceride transfer protein 0.827409
APOE apolipoprotein E 0.825768
LPL lipoprotein lipase 0.741111
CETP cholesteryl ester transfer protein, plasma 0.707559
APOA1 apolipoprotein A-I 0.677903
LIPC lipase, hepatic 0.608885
LINC00207 long intergenic non-protein coding RNA 207 0.597961
VLDLR very low density lipoprotein receptor 0.574605
LIN7A lin-7 homolog A (C. elegans) 0.561004
INSIG1 insulin induced gene 1 0.493503
LCAT lecithin-cholesterol acyltransferase 0.479807
ABCA2 ATP-binding cassette, sub-family A (ABC1), member 2 0.473361
C1QBP complement component 1, q subcomponent binding protein 0.445429
NPC1 Niemann-Pick disease, type C1 0.407545
CTRL chymotrypsin-like 0.387423
NPC1L1 NPC1-like 1 0.386308
HRG histidine-rich glycoprotein 0.372587
SLC22A18 solute carrier family 22, member 18 0.342006
CHD1L chromodomain helicase DNA binding protein 1-like 0.327375
APOBEC3G apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3G 0.325916
FGB fibrinogen beta chain 0.300533
SCNN1A sodium channel, non voltage gated 1 alpha subunit 0.287593
LSS lanosterol synthase (2,3-oxidosqualene-lanosterol cyclase) 0.286877
ECI1 enoyl-CoA delta isomerase 1 0.285444
APOC3 apolipoprotein C-III 0.281868
USF2 upstream transcription factor 2, c-fos interacting 0.273308
APOA4 apolipoprotein A-IV 0.245046
PKLR pyruvate kinase, liver and RBC 0.216332
PON2 paraoxonase 2 0.200982
TNFRSF14 tumor necrosis factor receptor superfamily, member 14 0.188326
SREBF2 sterol regulatory element binding transcription factor 2 0.176485
ABCA1 ATP-binding cassette, sub-family A (ABC1), member 1 0.174093
CANX calnexin 0.168148
PKM pyruvate kinase, muscle 0.165001
ERN1 endoplasmic reticulum to nucleus signaling 1 0.158434
CYP7A1 cytochrome P450, family 7, subfamily A, polypeptide 1 0.157602