abetalipoproteinemia Gene Set

Dataset DISEASES Text-mining Gene-Disease Association Evidence Scores
Category disease or phenotype associations
Type disease
Description A hypolipoproteinemia that is characterized by an inablility to fully absorb dietary fats, cholesterol and fat-soluble vitamins, has_physical_basis_in an autosomal recessive disorder of lipid metabolism caused by mutation of the microsomal triglyceride transfer protein that catalyzes the transport of lipids (TRIGLYCERIDES; CHOLESTEROL ESTERS; PHOSPHOLIPIDS) and is required in the secretion of BETA-LIPOPROTEINS (low density lipoproteins or LDL). (Human Disease Ontology, DOID_1386)
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Genes

67 genes co-occuring with the disease abetalipoproteinemia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

Symbol Name Standardized Value
MTTP microsomal triglyceride transfer protein 2.6261
APOB apolipoprotein B 2.62043
TTPA tocopherol (alpha) transfer protein 1.61039
SAR1B secretion associated, Ras related GTPase 1B 1.59296
ANGPTL3 angiopoietin-like 3 1.51853
P4HB prolyl 4-hydroxylase, beta polypeptide 1.45353
LCAT lecithin-cholesterol acyltransferase 1.34025
PCSK9 proprotein convertase subtilisin/kexin type 9 1.26298
LPA lipoprotein, Lp(a) 1.1312
APOA2 apolipoprotein A-II 1.08034
APOE apolipoprotein E 0.97296
APOC2 apolipoprotein C-II 0.961216
LPL lipoprotein lipase 0.897872
SACS sacsin molecular chaperone 0.863865
SC5D sterol-C5-desaturase 0.802385
NPC1L1 NPC1-like 1 0.778613
ATCAY ataxia, cerebellar, Cayman type 0.740299
APOC3 apolipoprotein C-III 0.724502
SLC4A3 solute carrier family 4 (anion exchanger), member 3 0.705547
APTX aprataxin 0.694702
SETX senataxin 0.687891
SLC27A4 solute carrier family 27 (fatty acid transporter), member 4 0.667947
DARS2 aspartyl-tRNA synthetase 2, mitochondrial 0.652484
COG2 component of oligomeric golgi complex 2 0.637102
FBXO44 F-box protein 44 0.630813
GPIHBP1 glycosylphosphatidylinositol anchored high density lipoprotein binding protein 1 0.592506
PTOV1 prostate tumor overexpressed 1 0.560227
CYTIP cytohesin 1 interacting protein 0.545481
MINK1 misshapen-like kinase 1 0.50689
VPS13A vacuolar protein sorting 13 homolog A (S. cerevisiae) 0.496557
DYNLRB1 dynein, light chain, roadblock-type 1 0.447311
USF1 upstream transcription factor 1 0.443171
CD1B CD1b molecule 0.435275
LDLR low density lipoprotein receptor 0.434148
APOA1 apolipoprotein A-I 0.424765
DGAT1 diacylglycerol O-acyltransferase 1 0.421765
HYOU1 hypoxia up-regulated 1 0.415024
APOA4 apolipoprotein A-IV 0.407919
PLA2G7 phospholipase A2, group VII (platelet-activating factor acetylhydrolase, plasma) 0.396353
ACACA acetyl-CoA carboxylase alpha 0.395235
LPIN1 lipin 1 0.388538
ABCA1 ATP-binding cassette, sub-family A (ABC1), member 1 0.387051
KEL Kell blood group, metallo-endopeptidase 0.377773
HLCS holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase) 0.365193
ADH5 alcohol dehydrogenase 5 (class III), chi polypeptide 0.354131
CHD1L chromodomain helicase DNA binding protein 1-like 0.346042
TP53INP1 tumor protein p53 inducible nuclear protein 1 0.330295
SCARB1 scavenger receptor class B, member 1 0.307033
SI sucrase-isomaltase (alpha-glucosidase) 0.307033
MYDGF myeloid-derived growth factor 0.301976
FXN frataxin 0.301615
CEL carboxyl ester lipase 0.297291
NR1H3 nuclear receptor subfamily 1, group H, member 3 0.289744
NEUROG3 neurogenin 3 0.287952
SLC26A3 solute carrier family 26 (anion exchanger), member 3 0.275445
AMY2A amylase, alpha 2A (pancreatic) 0.262306
ABCG5 ATP-binding cassette, sub-family G (WHITE), member 5 0.255241
CETP cholesteryl ester transfer protein, plasma 0.250663
NCR3 natural cytotoxicity triggering receptor 3 0.210253
HMGCR 3-hydroxy-3-methylglutaryl-CoA reductase 0.192971
PNPLA3 patatin-like phospholipase domain containing 3 0.189244
NPTX2 neuronal pentraxin II 0.18472
CANX calnexin 0.181222
DHCR7 7-dehydrocholesterol reductase 0.177851
CTSA cathepsin A 0.166544
POMC proopiomelanocortin 0.165435
PNLIP pancreatic lipase 0.158778