Adrenoleukodystrophy Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description A leukodystrophy that disrupts the breakdown of very-long-chain fatty acids resulting in progressive brain damage, failure of the adrenal glands and eventually death. (Human Disease Ontology, DOID_10588)
External Link https://www.disgenet.org/browser/0/1/0/C0162309
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Genes

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

Symbol Name
ABCA4 ATP-binding cassette, sub-family A (ABC1), member 4
ABCB11 ATP-binding cassette, sub-family B (MDR/TAP), member 11
ABCB6 ATP-binding cassette, sub-family B (MDR/TAP), member 6 (Langereis blood group)
ABCC2 ATP-binding cassette, sub-family C (CFTR/MRP), member 2
ABCD1 ATP-binding cassette, sub-family D (ALD), member 1
ABCD2 ATP-binding cassette, sub-family D (ALD), member 2
ABCD3 ATP-binding cassette, sub-family D (ALD), member 3
ABCD4 ATP-binding cassette, sub-family D (ALD), member 4
ABCG2 ATP-binding cassette, sub-family G (WHITE), member 2 (Junior blood group)
ABR active BCR-related
ACAA1 acetyl-CoA acyltransferase 1
ACAA2 acetyl-CoA acyltransferase 2
ACSBG1 acyl-CoA synthetase bubblegum family member 1
ACSBG2 acyl-CoA synthetase bubblegum family member 2
ACTB actin, beta
ADH1B alcohol dehydrogenase 1B (class I), beta polypeptide
ADH1C alcohol dehydrogenase 1C (class I), gamma polypeptide
ADH5 alcohol dehydrogenase 5 (class III), chi polypeptide
AFM afamin
AHSA1 AHA1, activator of heat shock 90kDa protein ATPase homolog 1 (yeast)
AIMP2 aminoacyl tRNA synthetase complex-interacting multifunctional protein 2
AKR1A1 aldo-keto reductase family 1, member A1 (aldehyde reductase)
AKR1B1 aldo-keto reductase family 1, member B1 (aldose reductase)
AKT1 v-akt murine thymoma viral oncogene homolog 1
AKT3 v-akt murine thymoma viral oncogene homolog 3
ALB albumin
ALDH2 aldehyde dehydrogenase 2 family (mitochondrial)
ALOX15 arachidonate 15-lipoxygenase
AMN amnion associated transmembrane protein
ANXA2 annexin A2
APRT adenine phosphoribosyltransferase
AQP2 aquaporin 2 (collecting duct)
ARRB2 arrestin, beta 2
ATF4 activating transcription factor 4
ATG7 autophagy related 7
ATN1 atrophin 1
AVP arginine vasopressin
BAX BCL2-associated X protein
BCAP31 B-cell receptor-associated protein 31
BCHE butyrylcholinesterase
BCL2 B-cell CLL/lymphoma 2
BECN1 beclin 1, autophagy related
BRD2 bromodomain containing 2
C5 complement component 5
C5AR1 complement component 5a receptor 1
CASP1 caspase 1, apoptosis-related cysteine peptidase
CASP3 caspase 3, apoptosis-related cysteine peptidase
CASP8 caspase 8, apoptosis-related cysteine peptidase
CBS cystathionine-beta-synthase
CCL2 chemokine (C-C motif) ligand 2
CCL22 chemokine (C-C motif) ligand 22
CCR2 chemokine (C-C motif) receptor 2
CD14 CD14 molecule
CD19 CD19 molecule
CD1A CD1a molecule
CD1B CD1b molecule
CD1C CD1c molecule
CD1D CD1d molecule
CD34 CD34 molecule
CD44 CD44 molecule (Indian blood group)
CES1 carboxylesterase 1
CFTR cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)
CHI3L1 chitinase 3-like 1 (cartilage glycoprotein-39)
CHIT1 chitinase 1 (chitotriosidase)
CHMP2B charged multivesicular body protein 2B
CHST3 carbohydrate (chondroitin 6) sulfotransferase 3
CLOCK clock circadian regulator
CLTC clathrin, heavy chain (Hc)
CNR1 cannabinoid receptor 1 (brain)
COX8A cytochrome c oxidase subunit VIIIA (ubiquitous)
CRK v-crk avian sarcoma virus CT10 oncogene homolog
CSH1 chorionic somatomammotropin hormone 1 (placental lactogen)
CSH2 chorionic somatomammotropin hormone 2
CTNNB1 catenin (cadherin-associated protein), beta 1, 88kDa
CYP21A2 cytochrome P450, family 21, subfamily A, polypeptide 2
CYP2B6 cytochrome P450, family 2, subfamily B, polypeptide 6
CYP2E1 cytochrome P450, family 2, subfamily E, polypeptide 1
CYP4F2 cytochrome P450, family 4, subfamily F, polypeptide 2
DCTN4 dynactin 4 (p62)
DEPTOR DEP domain containing MTOR-interacting protein
DGAT2 diacylglycerol O-acyltransferase 2
DLAT dihydrolipoamide S-acetyltransferase
DMPK dystrophia myotonica-protein kinase
DMRT1 doublesex and mab-3 related transcription factor 1
DNASE1 deoxyribonuclease I
EIF2AK3 eukaryotic translation initiation factor 2-alpha kinase 3
EIF2B2 eukaryotic translation initiation factor 2B, subunit 2 beta, 39kDa
ELANE elastase, neutrophil expressed
ELOVL1 ELOVL fatty acid elongase 1
ENDOU endonuclease, polyU-specific
ERCC8 excision repair cross-complementation group 8
EXOSC6 exosome component 6
FAS Fas cell surface death receptor
FBL fibrillarin
FOXO3 forkhead box O3
FUT1 fucosyltransferase 1 (galactoside 2-alpha-L-fucosyltransferase, H blood group)
G6PD glucose-6-phosphate dehydrogenase
GABPA GA binding protein transcription factor, alpha subunit 60kDa
GADD45B growth arrest and DNA-damage-inducible, beta
GGT1 gamma-glutamyltransferase 1
GGTLC1 gamma-glutamyltransferase light chain 1
GGTLC3 gamma-glutamyltransferase light chain 3
GJB1 gap junction protein, beta 1, 32kDa
GLB1 galactosidase, beta 1
GLUL glutamate-ammonia ligase
GPT glutamic-pyruvate transaminase (alanine aminotransferase)
GRAP2 GRB2-related adaptor protein 2
GRHL2 grainyhead-like 2 (Drosophila)
GSK3B glycogen synthase kinase 3 beta
GSTA1 glutathione S-transferase alpha 1
GSTK1 glutathione S-transferase kappa 1
GSTM1 glutathione S-transferase mu 1
GSTP1 glutathione S-transferase pi 1
GSTT1 glutathione S-transferase theta 1
GTF2A1L general transcription factor IIA, 1-like
GTF2H1 general transcription factor IIH, polypeptide 1, 62kDa
HADH hydroxyacyl-CoA dehydrogenase
HADHB hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit
HAMP hepcidin antimicrobial peptide
HFE hemochromatosis
HIF1A hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)
HLA-DRB1 major histocompatibility complex, class II, DR beta 1
HMGB1 high mobility group box 1
HMOX1 heme oxygenase 1
HPGDS hematopoietic prostaglandin D synthase
HSD11B1 hydroxysteroid (11-beta) dehydrogenase 1
HSD17B13 hydroxysteroid (17-beta) dehydrogenase 13
HSD17B4 hydroxysteroid (17-beta) dehydrogenase 4
HSPA5 heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa)
HSPA9 heat shock 70kDa protein 9 (mortalin)
HSPD1 heat shock 60kDa protein 1 (chaperonin)
HSPG2 heparan sulfate proteoglycan 2
IFNB1 interferon, beta 1, fibroblast
IFNG interferon, gamma
IGF1 insulin-like growth factor 1 (somatomedin C)
IGH immunoglobulin heavy locus
IL10 interleukin 10
IL12B interleukin 12B
IL17A interleukin 17A
IL17F interleukin 17F
IL19 interleukin 19
IL1A interleukin 1, alpha
IL1B interleukin 1, beta
IL1RN interleukin 1 receptor antagonist
IL22 interleukin 22
IL33 interleukin 33
IL4 interleukin 4
IL6 interleukin 6
IRF3 interferon regulatory factor 3
KDR kinase insert domain receptor
KHDRBS1 KH domain containing, RNA binding, signal transduction associated 1
KRT18 keratin 18, type I
L1CAM L1 cell adhesion molecule
LAMP1 lysosomal-associated membrane protein 1
LAMP2 lysosomal-associated membrane protein 2
LBP lipopolysaccharide binding protein
LOC102723407 putative V-set and immunoglobulin domain-containing-like protein IGHV4OR15-8
LOC102724197 inactive gamma-glutamyltranspeptidase 2-like
LOC102724560 cystathionine beta-synthase
LOC102724971 putative V-set and immunoglobulin domain-containing-like protein IGHV4OR15-8
LPIN1 lipin 1
LRP6 low density lipoprotein receptor-related protein 6
MAG myelin associated glycoprotein
MAPK1 mitogen-activated protein kinase 1
MAPK14 mitogen-activated protein kinase 14
MAPK3 mitogen-activated protein kinase 3
MAPK8 mitogen-activated protein kinase 8
MBOAT7 membrane bound O-acyltransferase domain containing 7
MBP myelin basic protein
MBTPS1 membrane-bound transcription factor peptidase, site 1
MFAP1 microfibrillar-associated protein 1
MOG myelin oligodendrocyte glycoprotein
MSTN myostatin
MTOR mechanistic target of rapamycin (serine/threonine kinase)
MYD88 myeloid differentiation primary response 88
NAMPT nicotinamide phosphoribosyltransferase
NAT2 N-acetyltransferase 2 (arylamine N-acetyltransferase)
NCAN neurocan
NFE2L2 nuclear factor, erythroid 2-like 2
NOL3 nucleolar protein 3 (apoptosis repressor with CARD domain)
NOX4 NADPH oxidase 4
NR1H4 nuclear receptor subfamily 1, group H, member 4
NR1I3 nuclear receptor subfamily 1, group I, member 3
NR5A1 nuclear receptor subfamily 5, group A, member 1
NTF3 neurotrophin 3
NUP62 nucleoporin 62kDa
NVL nuclear VCP-like
PCNA proliferating cell nuclear antigen
PCSK7 proprotein convertase subtilisin/kexin type 7
PCSK9 proprotein convertase subtilisin/kexin type 9
PDE4A phosphodiesterase 4A, cAMP-specific
PEX1 peroxisomal biogenesis factor 1
PEX13 peroxisomal biogenesis factor 13
PEX26 peroxisomal biogenesis factor 26
PEX6 peroxisomal biogenesis factor 6
PHYH phytanoyl-CoA 2-hydroxylase
PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
PIK3CB phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta
PIK3CD phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta
PIK3CG phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma
PIPOX pipecolic acid oxidase
PIWIL2 piwi-like RNA-mediated gene silencing 2
PLIN3 perilipin 3
PMP22 peripheral myelin protein 22
PNPLA3 patatin-like phospholipase domain containing 3
POLDIP2 polymerase (DNA-directed), delta interacting protein 2
POMC proopiomelanocortin
POTEF POTE ankyrin domain family, member F
POU5F1 POU class 5 homeobox 1
PPARA peroxisome proliferator-activated receptor alpha
PPARD peroxisome proliferator-activated receptor delta
PPARG peroxisome proliferator-activated receptor gamma
PPID peptidylprolyl isomerase D
PPIF peptidylprolyl isomerase F
PRKAA1 protein kinase, AMP-activated, alpha 1 catalytic subunit
PRKAA2 protein kinase, AMP-activated, alpha 2 catalytic subunit
PRKAB1 protein kinase, AMP-activated, beta 1 non-catalytic subunit
PRSS1 protease, serine, 1 (trypsin 1)
RASGRF2 Ras protein-specific guanine nucleotide-releasing factor 2
RBM45 RNA binding motif protein 45
RHEB Ras homolog enriched in brain
RNF19A ring finger protein 19A, RBR E3 ubiquitin protein ligase
ROS1 ROS proto-oncogene 1 , receptor tyrosine kinase
S100A10 S100 calcium binding protein A10
S100A4 S100 calcium binding protein A4
SCAP SREBF chaperone
SERPINE1 serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1
SGCA sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein)
SIRT1 sirtuin 1
SIRT6 sirtuin 6
SLC11A2 solute carrier family 11 (proton-coupled divalent metal ion transporter), member 2
SLC27A2 solute carrier family 27 (fatty acid transporter), member 2
SLC27A5 solute carrier family 27 (fatty acid transporter), member 5
SLC40A1 solute carrier family 40 (iron-regulated transporter), member 1
SLC4A1 solute carrier family 4 (anion exchanger), member 1 (Diego blood group)
SLC6A8 solute carrier family 6 (neurotransmitter transporter), member 8
SLCO6A1 solute carrier organic anion transporter family, member 6A1
SNCA synuclein, alpha (non A4 component of amyloid precursor)
SNX10 sorting nexin 10
SOCS3 suppressor of cytokine signaling 3
SOD2 superoxide dismutase 2, mitochondrial
SPHK2 sphingosine kinase 2
SPINK1 serine peptidase inhibitor, Kazal type 1
SPP1 secreted phosphoprotein 1
SQSTM1 sequestosome 1
SRSF4 serine/arginine-rich splicing factor 4
ST14 suppression of tumorigenicity 14 (colon carcinoma)
ST8SIA4 ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4
STAT3 signal transducer and activator of transcription 3 (acute-phase response factor)
STIM1 stromal interaction molecule 1
STON1 stonin 1
STON1-GTF2A1L STON1-GTF2A1L readthrough
TAC1 tachykinin, precursor 1
TCF4 transcription factor 4
TCF7L2 transcription factor 7-like 2 (T-cell specific, HMG-box)
TET1 tet methylcytosine dioxygenase 1
TFRC transferrin receptor
TGFB1 transforming growth factor, beta 1
TJP1 tight junction protein 1
TLR2 toll-like receptor 2
TLR3 toll-like receptor 3
TLR4 toll-like receptor 4
TM6SF2 transmembrane 6 superfamily member 2
TNF tumor necrosis factor
TPO thyroid peroxidase
TREX1 three prime repair exonuclease 1
TRPV1 transient receptor potential cation channel, subfamily V, member 1
TTR transthyretin
UBE2I ubiquitin-conjugating enzyme E2I
UCHL1 ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase)
UCP2 uncoupling protein 2 (mitochondrial, proton carrier)
UGT1A1 UDP glucuronosyltransferase 1 family, polypeptide A1
VDR vitamin D (1,25- dihydroxyvitamin D3) receptor
VLDLR very low density lipoprotein receptor
WASF1 WAS protein family, member 1
XBP1 X-box binding protein 1
ZEB2 zinc finger E-box binding homeobox 2