Abetalipoproteinemia Gene Set

Dataset DisGeNET Gene-Disease Associations
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)
External Link https://www.disgenet.org/browser/0/1/0/C0000744
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Genes

61 genes associated with the disease Abetalipoproteinemia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
ABL1 ABL proto-oncogene 1, non-receptor tyrosine kinase
ABL2 ABL proto-oncogene 2, non-receptor tyrosine kinase
ACTB actin, beta
ALK anaplastic lymphoma receptor tyrosine kinase
APOB apolipoprotein B
APOE apolipoprotein E
BCR breakpoint cluster region
CAD carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase
CBL Cbl proto-oncogene, E3 ubiquitin protein ligase
CCL2 chemokine (C-C motif) ligand 2
CD34 CD34 molecule
CDKN2B cyclin-dependent kinase inhibitor 2B (p15, inhibits CDK4)
CRLF2 cytokine receptor-like factor 2
CYP4F22 cytochrome P450, family 4, subfamily F, polypeptide 22
EBI3 Epstein-Barr virus induced 3
EPHA4 EPH receptor A4
ETV6 ets variant 6
EVPL envoplakin
FABP1 fatty acid binding protein 1, liver
FAM107B family with sequence similarity 107, member B
GATA1 GATA binding protein 1 (globin transcription factor 1)
GFI1 growth factor independent 1 transcription repressor
GPT glutamic-pyruvate transaminase (alanine aminotransferase)
HADHA hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit
HADHB hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit
HIF1A hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)
IL10 interleukin 10
IL11 interleukin 11
IL18R1 interleukin 18 receptor 1
JAK2 Janus kinase 2
JPH3 junctophilin 3
KCNN4 potassium channel, calcium activated intermediate/small conductance subfamily N alpha, member 4
KMT2A lysine (K)-specific methyltransferase 2A
LDLR low density lipoprotein receptor
LGALS1 lectin, galactoside-binding, soluble, 1
MAP3K1 mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase
MPO myeloperoxidase
MRPL28 mitochondrial ribosomal protein L28
MT1B metallothionein 1B
MTTP microsomal triglyceride transfer protein
MYB v-myb avian myeloblastosis viral oncogene homolog
NOX4 NADPH oxidase 4
NPM1 nucleophosmin (nucleolar phosphoprotein B23, numatrin)
NXT1 nuclear transport factor 2-like export factor 1
PANK2 pantothenate kinase 2
PCSK9 proprotein convertase subtilisin/kexin type 9
PIK3C2A phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha
PRL prolactin
PTP4A3 protein tyrosine phosphatase type IVA, member 3
PTPN1 protein tyrosine phosphatase, non-receptor type 1
SAR1B secretion associated, Ras related GTPase 1B
SMR3B submaxillary gland androgen regulated protein 3B
SORBS2 sorbin and SH3 domain containing 2
SUB1 SUB1 homolog (S. cerevisiae)
TEK TEK tyrosine kinase, endothelial
TNFRSF11A tumor necrosis factor receptor superfamily, member 11a, NFKB activator
TNFRSF11B tumor necrosis factor receptor superfamily, member 11b
TNFSF11 tumor necrosis factor (ligand) superfamily, member 11
VPS13A vacuolar protein sorting 13 homolog A (S. cerevisiae)
WASF1 WAS protein family, member 1
XK X-linked Kx blood group