Bulbo-Spinal Atrophy, X-Linked Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
External Link https://www.disgenet.org/browser/0/1/0/C1839259
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Genes

119 genes associated with the disease Bulbo-Spinal Atrophy, X-Linked 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
ADCYAP1 adenylate cyclase activating polypeptide 1 (pituitary)
AKT1 v-akt murine thymoma viral oncogene homolog 1
AQP1 aquaporin 1 (Colton blood group)
AR androgen receptor
ATXN1 ataxin 1
ATXN2 ataxin 2
ATXN3 ataxin 3
BAG3 BCL2-associated athanogene 3
BCAR1 breast cancer anti-estrogen resistance 1
BECN1 beclin 1, autophagy related
BPTF bromodomain PHD finger transcription factor
C9ORF72 chromosome 9 open reading frame 72
CASP3 caspase 3, apoptosis-related cysteine peptidase
CD24 CD24 molecule
CEBPD CCAAT/enhancer binding protein (C/EBP), delta
CELF2 CUGBP, Elav-like family member 2
CERS6 ceramide synthase 6
CHCHD10 coiled-coil-helix-coiled-coil-helix domain containing 10
COX5B cytochrome c oxidase subunit Vb
CREBBP CREB binding protein
CRP C-reactive protein, pentraxin-related
DCTN4 dynactin 4 (p62)
DMPK dystrophia myotonica-protein kinase
DNAJA1 DnaJ (Hsp40) homolog, subfamily A, member 1
DNAJB1 DnaJ (Hsp40) homolog, subfamily B, member 1
DNAJB2 DnaJ (Hsp40) homolog, subfamily B, member 2
DNMT1 DNA (cytosine-5-)-methyltransferase 1
EPHB2 EPH receptor B2
ERBB2 erb-b2 receptor tyrosine kinase 2
FAM135B family with sequence similarity 135, member B
FBN1 fibrillin 1
FXN frataxin
GABPA GA binding protein transcription factor, alpha subunit 60kDa
GAPDH glyceraldehyde-3-phosphate dehydrogenase
GDNF glial cell derived neurotrophic factor
GFRA1 GDNF family receptor alpha 1
GH1 growth hormone 1
GNA12 guanine nucleotide binding protein (G protein) alpha 12
GPT glutamic-pyruvate transaminase (alanine aminotransferase)
GRIA2 glutamate receptor, ionotropic, AMPA 2
GRM2 glutamate receptor, metabotropic 2
GTF2H1 general transcription factor IIH, polypeptide 1, 62kDa
HAP1 huntingtin-associated protein 1
HES5 hes family bHLH transcription factor 5
HIF1A hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)
HSF1 heat shock transcription factor 1
HSP90AA1 heat shock protein 90kDa alpha (cytosolic), class A member 1
HSPA4 heat shock 70kDa protein 4
HSPA5 heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa)
HSPB8 heat shock 22kDa protein 8
HSPH1 heat shock 105kDa/110kDa protein 1
HTT huntingtin
IGF1 insulin-like growth factor 1 (somatomedin C)
IGF1R insulin-like growth factor 1 receptor
IGFALS insulin-like growth factor binding protein, acid labile subunit
IL4 interleukin 4
IL6 interleukin 6
INSR insulin receptor
IRF1 interferon regulatory factor 1
JAG1 jagged 1
KAT2A K(lysine) acetyltransferase 2A
KAT2B K(lysine) acetyltransferase 2B
KHDRBS1 KH domain containing, RNA binding, signal transduction associated 1
LDHA lactate dehydrogenase A
LY6E lymphocyte antigen 6 complex, locus E
MAP7 microtubule-associated protein 7
MAPK1 mitogen-activated protein kinase 1
MAPT microtubule-associated protein tau
MMP2 matrix metallopeptidase 2
MYH8 myosin, heavy chain 8, skeletal muscle, perinatal
MYO5B myosin VB
MZB1 marginal zone B and B1 cell-specific protein
NEFH neurofilament, heavy polypeptide
NEFL neurofilament, light polypeptide
NFE2L2 nuclear factor, erythroid 2-like 2
NLRX1 NLR family member X1
NRF1 nuclear respiratory factor 1
NUP62 nucleoporin 62kDa
OTX2 orthodenticle homeobox 2
PBK PDZ binding kinase
PMP22 peripheral myelin protein 22
POT1 protection of telomeres 1
PPARG peroxisome proliferator-activated receptor gamma
PRMT6 protein arginine methyltransferase 6
PRNP prion protein
PSME3 proteasome (prosome, macropain) activator subunit 3 (PA28 gamma; Ki)
RAN RAN, member RAS oncogene family
RET ret proto-oncogene
SCN3A sodium channel, voltage gated, type III alpha subunit
SEMA3B sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3B
SEMA6A sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A
SEPT7 septin 7
SERPINE1 serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1
SIX1 SIX homeobox 1
SMAD1 SMAD family member 1
SMN1 survival of motor neuron 1, telomeric
SOD1 superoxide dismutase 1, soluble
SOD2 superoxide dismutase 2, mitochondrial
SPAG9 sperm associated antigen 9
SQSTM1 sequestosome 1
SRY sex determining region Y
STAT1 signal transducer and activator of transcription 1, 91kDa
STOML1 stomatin (EPB72)-like 1
SUCO SUN domain containing ossification factor
SYTL1 synaptotagmin-like 1
TBP TATA box binding protein
TFEB transcription factor EB
TGFB1 transforming growth factor, beta 1
TNF tumor necrosis factor
TNFRSF1A tumor necrosis factor receptor superfamily, member 1A
TRIP10 thyroid hormone receptor interactor 10
UCP2 uncoupling protein 2 (mitochondrial, proton carrier)
URI1 URI1, prefoldin-like chaperone
VDR vitamin D (1,25- dihydroxyvitamin D3) receptor
VEGFA vascular endothelial growth factor A
WDR1 WD repeat domain 1
ZEB1 zinc finger E-box binding homeobox 1
ZKSCAN3 zinc finger with KRAB and SCAN domains 3