Abetalipoproteinemia Gene Set

Dataset DISEASES Text-mining Gene-Disease Association Evidence Scores 2025
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

145 genes co-occuring with the disease Abetalipoproteinemia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Symbol Name Standardized Value
MTTP microsomal triglyceride transfer protein 3.61
APOB apolipoprotein B 3.519
SAR1B secretion associated, Ras related GTPase 1B 2.986
ANGPTL3 angiopoietin-like 3 2.825
TTPA tocopherol (alpha) transfer protein 2.563
PCSK9 proprotein convertase subtilisin/kexin type 9 2.545
LDLR low density lipoprotein receptor 2.442
APOA1 apolipoprotein A-I 2.331
APOC2 apolipoprotein C-II 2.233
LPL lipoprotein lipase 2.174
TM6SF2 transmembrane 6 superfamily member 2 2.163
PNPLA3 patatin-like phospholipase domain containing 3 2.135
LDLRAP1 low density lipoprotein receptor adaptor protein 1 2.128
LCAT lecithin-cholesterol acyltransferase 2.123
DGAT1 diacylglycerol O-acyltransferase 1 2.068
APOC3 apolipoprotein C-III 2.068
ABCA1 ATP-binding cassette, sub-family A (ABC1), member 1 2.035
APOA5 apolipoprotein A-V 2.027
LIPG lipase, endothelial 2.022
APOE apolipoprotein E 1.98
CETP cholesteryl ester transfer protein, plasma 1.959
APOA2 apolipoprotein A-II 1.952
LIPC lipase, hepatic 1.929
APOBEC1 apolipoprotein B mRNA editing enzyme, catalytic polypeptide 1 1.929
NPC1L1 NPC1-like 1 1.916
GPIHBP1 glycosylphosphatidylinositol anchored high density lipoprotein binding protein 1 1.909
APOA4 apolipoprotein A-IV 1.903
LMF1 lipase maturation factor 1 1.877
APTX aprataxin 1.863
ABCG5 ATP-binding cassette, sub-family G (WHITE), member 5 1.86
ABCG8 ATP-binding cassette, sub-family G (WHITE), member 8 1.802
HMGCR 3-hydroxy-3-methylglutaryl-CoA reductase 1.795
DGAT2 diacylglycerol O-acyltransferase 2 1.773
SCARB1 scavenger receptor class B, member 1 1.758
LIPA lipase A, lysosomal acid, cholesterol esterase 1.712
MGAT1 mannosyl (alpha-1,3-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase 1.677
VPS13A vacuolar protein sorting 13 homolog A (S. cerevisiae) 1.676
FXN frataxin 1.655
HSD17B13 hydroxysteroid (17-beta) dehydrogenase 13 1.641
SREBF1 sterol regulatory element binding transcription factor 1 1.619
INS insulin 1.606
PLTP phospholipid transfer protein 1.598
PPARA peroxisome proliferator-activated receptor alpha 1.592
FABP1 fatty acid binding protein 1, liver 1.573
GPT glutamic-pyruvate transaminase (alanine aminotransferase) 1.522
GCKR glucokinase (hexokinase 4) regulator 1.52
MBOAT7 membrane bound O-acyltransferase domain containing 7 1.504
SACS sacsin molecular chaperone 1.497
SAR1A secretion associated, Ras related GTPase 1A 1.482
LRAT lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase) 1.475
DHCR7 7-dehydrocholesterol reductase 1.453
CD36 CD36 molecule (thrombospondin receptor) 1.451
ANGPTL4 angiopoietin-like 4 1.427
PHYH phytanoyl-CoA 2-hydroxylase 1.418
GOT2 glutamic-oxaloacetic transaminase 2, mitochondrial 1.418
SEC13 SEC13 homolog (S. cerevisiae) 1.406
LPA lipoprotein, Lp(a) 1.393
POLG polymerase (DNA directed), gamma 1.387
MLXIPL MLX interacting protein-like 1.385
SETX senataxin 1.383
GOLPH3 golgi phosphoprotein 3 (coat-protein) 1.37
SREBF2 sterol regulatory element binding transcription factor 2 1.37
SLC27A4 solute carrier family 27 (fatty acid transporter), member 4 1.37
SLC27A5 solute carrier family 27 (fatty acid transporter), member 5 1.368
DYNLRB1 dynein, light chain, roadblock-type 1 1.365
VLDLR very low density lipoprotein receptor 1.36
SCARB2 scavenger receptor class B, member 2 1.355
CP ceruloplasmin (ferroxidase) 1.351
NPC1 Niemann-Pick disease, type C1 1.346
PNPLA2 patatin-like phospholipase domain containing 2 1.339
PEMT phosphatidylethanolamine N-methyltransferase 1.336
SORT1 sortilin 1 1.322
ABCG1 ATP-binding cassette, sub-family G (WHITE), member 1 1.319
APOC1 apolipoprotein C-I 1.316
PEX7 peroxisomal biogenesis factor 7 1.304
PCSK6 proprotein convertase subtilisin/kexin type 6 1.293
ALB albumin 1.291
SERPINA1 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1 1.291
PNLIP pancreatic lipase 1.28
GALNT2 polypeptide N-acetylgalactosaminyltransferase 2 1.268
HDLBP high density lipoprotein binding protein 1.263
FDFT1 farnesyl-diphosphate farnesyltransferase 1 1.256
LPIN1 lipin 1 1.251
PPP1R3B protein phosphatase 1, regulatory subunit 3B 1.248
NR1H3 nuclear receptor subfamily 1, group H, member 3 1.245
P4HB prolyl 4-hydroxylase, beta polypeptide 1.245
STX3 syntaxin 3 1.241
TTC7A tetratricopeptide repeat domain 7A 1.234
NR1H4 nuclear receptor subfamily 1, group H, member 4 1.232
LYPLAL1 lysophospholipase-like 1 1.226
SLC27A2 solute carrier family 27 (fatty acid transporter), member 2 1.222
CD1D CD1d molecule 1.217
ABHD5 abhydrolase domain containing 5 1.217
LIPE lipase, hormone-sensitive 1.199
TRIB1 tribbles pseudokinase 1 1.187
CPT2 carnitine palmitoyltransferase 2 1.185
ACACA acetyl-CoA carboxylase alpha 1.181
CKMT2 creatine kinase, mitochondrial 2 (sarcomeric) 1.173
GPD1 glycerol-3-phosphate dehydrogenase 1 (soluble) 1.172
CIDEB cell death-inducing DFFA-like effector b 1.172
COQ8A coenzyme Q8A 1.169
CKM creatine kinase, muscle 1.168
PDIA4 protein disulfide isomerase family A, member 4 1.165
CKMT1B creatine kinase, mitochondrial 1B 1.155
LEP leptin 1.152
CKB creatine kinase, brain 1.152
AWAT1 acyl-CoA wax alcohol acyltransferase 1 1.152
PPARG peroxisome proliferator-activated receptor gamma 1.149
GPR146 G protein-coupled receptor 146 1.146
FABP2 fatty acid binding protein 2, intestinal 1.144
SEC24B SEC24 family member B 1.141
ISX intestine-specific homeobox 1.141
GCG glucagon 1.137
ATXN7 ataxin 7 1.133
NOCT nocturnin 1.132
CYP7A1 cytochrome P450, family 7, subfamily A, polypeptide 1 1.131
XPR1 xenotropic and polytropic retrovirus receptor 1 1.13
SIL1 SIL1 nucleotide exchange factor 1.128
MYO5B myosin VB 1.113
CACNA1A calcium channel, voltage-dependent, P/Q type, alpha 1A subunit 1.11
NR0B2 nuclear receptor subfamily 0, group B, member 2 1.103
MOCS1 molybdenum cofactor synthesis 1 1.099
NPC2 Niemann-Pick disease, type C2 1.096
RHO rhodopsin 1.096
CYP27A1 cytochrome P450, family 27, subfamily A, polypeptide 1 1.093
TTC39B tetratricopeptide repeat domain 39B 1.091
ANGPTL8 angiopoietin like 8 1.084
SLC2A1 solute carrier family 2 (facilitated glucose transporter), member 1 1.079
KCNC3 potassium channel, voltage gated Shaw related subfamily C, member 3 1.071
ACSL5 acyl-CoA synthetase long-chain family member 5 1.066
TBP TATA box binding protein 1.061
SCD stearoyl-CoA desaturase (delta-9-desaturase) 1.059
CLPS colipase, pancreatic 1.058
HADHA hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit 1.056
PDIA3 protein disulfide isomerase family A, member 3 1.055
ELOVL4 ELOVL fatty acid elongase 4 1.055
SLC25A33 solute carrier family 25 (pyrimidine nucleotide carrier), member 33 1.053
HNF1A HNF1 homeobox A 1.05
HNF4A hepatocyte nuclear factor 4, alpha 1.048
STXBP2 syntaxin binding protein 2 1.028
CANX calnexin 1.028
HADHB hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit 1.022
JPH3 junctophilin 3 1.018
PLIN2 perilipin 2 1.016
ARFRP1 ADP-ribosylation factor related protein 1 1.005