Spinal Muscular Atrophy Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description A motor neuron disease that is a degenerative neuromuscular disease characterized by motor neuron degeration. (Human Disease Ontology, DOID_12377)
External Link https://www.disgenet.org/browser/0/1/0/C1834690
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Genes

308 genes associated with the disease Spinal Muscular Atrophy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
ABCB6 ATP-binding cassette, sub-family B (MDR/TAP), member 6 (Langereis blood group)
ACHE acetylcholinesterase (Yt blood group)
ACTB actin, beta
ACVR2B activin A receptor, type IIB
ADRB2 adrenoceptor beta 2, surface
AGRP agouti related neuropeptide
AHSA1 AHA1, activator of heat shock 90kDa protein ATPase homolog 1 (yeast)
AIMP2 aminoacyl tRNA synthetase complex-interacting multifunctional protein 2
AKT1 v-akt murine thymoma viral oncogene homolog 1
ALB albumin
ALPI alkaline phosphatase, intestinal
ALPP alkaline phosphatase, placental
ANG angiogenin, ribonuclease, RNase A family, 5
ANXA1 annexin A1
APOE apolipoprotein E
AR androgen receptor
ARHGAP22 Rho GTPase activating protein 22
ARHGEF7 Rho guanine nucleotide exchange factor (GEF) 7
ARID4B AT rich interactive domain 4B (RBP1-like)
ARSF arylsulfatase F
ARTN artemin
ASAH1 N-acylsphingosine amidohydrolase (acid ceramidase) 1
ASCC1 activating signal cointegrator 1 complex subunit 1
ATAD3A ATPase family, AAA domain containing 3A
ATP6V1B2 ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B2
ATP7A ATPase, Cu++ transporting, alpha polypeptide
ATXN2 ataxin 2
BCL10 B-cell CLL/lymphoma 10
BCL2 B-cell CLL/lymphoma 2
BCL2L1 BCL2-like 1
BDNF brain-derived neurotrophic factor
BECN1 beclin 1, autophagy related
BEST1 bestrophin 1
BICD1 bicaudal D homolog 1 (Drosophila)
BICD2 bicaudal D homolog 2 (Drosophila)
BMP4 bone morphogenetic protein 4
BRD2 bromodomain containing 2
C9ORF72 chromosome 9 open reading frame 72
CALR calreticulin
CANX calnexin
CARD16 caspase recruitment domain family, member 16
CARM1 coactivator-associated arginine methyltransferase 1
CASP3 caspase 3, apoptosis-related cysteine peptidase
CASP8 caspase 8, apoptosis-related cysteine peptidase
CAT catalase
CCDC8 coiled-coil domain containing 8
CCL18 chemokine (C-C motif) ligand 18 (pulmonary and activation-regulated)
CCL2 chemokine (C-C motif) ligand 2
CCL21 chemokine (C-C motif) ligand 21
CCN2 cellular communication network factor 2
CD2AP CD2-associated protein
CD36 CD36 molecule (thrombospondin receptor)
CD40 CD40 molecule, TNF receptor superfamily member 5
CD47 CD47 molecule
CDCA5 cell division cycle associated 5
CDK2AP1 cyclin-dependent kinase 2 associated protein 1
CDK5 cyclin-dependent kinase 5
CDK5R1 cyclin-dependent kinase 5, regulatory subunit 1 (p35)
CELF2 CUGBP, Elav-like family member 2
CHCHD10 coiled-coil-helix-coiled-coil-helix domain containing 10
CHML choroideremia-like (Rab escort protein 2)
CHODL chondrolectin
CHP1 calcineurin-like EF-hand protein 1
CIP2A cellular inhibitor of PP2A
CLOCK clock circadian regulator
CNTN1 contactin 1
CNTNAP1 contactin associated protein 1
COIL coilin
COMP cartilage oligomeric matrix protein
COPA coatomer protein complex, subunit alpha
CORO1C coronin, actin binding protein, 1C
CREB1 cAMP responsive element binding protein 1
CREM cAMP responsive element modulator
CRK v-crk avian sarcoma virus CT10 oncogene homolog
CSF2 colony stimulating factor 2 (granulocyte-macrophage)
CTF1 cardiotrophin 1
CTNNB1 catenin (cadherin-associated protein), beta 1, 88kDa
CXCR4 chemokine (C-X-C motif) receptor 4
CYP4V2 cytochrome P450, family 4, subfamily V, polypeptide 2
DCPS decapping enzyme, scavenger
DCTN4 dynactin 4 (p62)
DDX20 DEAD (Asp-Glu-Ala-Asp) box polypeptide 20
DES desmin
DMD dystrophin
DNAJB2 DnaJ (Hsp40) homolog, subfamily B, member 2
DNM1 dynamin 1
DPP4 dipeptidyl-peptidase 4
DROSHA drosha, ribonuclease type III
DYNC1H1 dynein, cytoplasmic 1, heavy chain 1
DYSF dysferlin
EEF1D eukaryotic translation elongation factor 1 delta (guanine nucleotide exchange protein)
EGF epidermal growth factor
EIF3K eukaryotic translation initiation factor 3, subunit K
ELAVL4 ELAV like neuron-specific RNA binding protein 4
EMX1 empty spiracles homeobox 1
EPHA4 EPH receptor A4
ERBB4 erb-b2 receptor tyrosine kinase 4
ERCC2 excision repair cross-complementation group 2
ERCC3 excision repair cross-complementation group 3
ETFA electron-transfer-flavoprotein, alpha polypeptide
EXOSC3 exosome component 3
EXOSC8 exosome component 8
FBXO32 F-box protein 32
FBXO38 F-box protein 38
FCN2 ficolin (collagen/fibrinogen domain containing lectin) 2
FOXO1 forkhead box O1
FST follistatin
FUS FUS RNA binding protein
FUT1 fucosyltransferase 1 (galactoside 2-alpha-L-fucosyltransferase, H blood group)
FUT4 fucosyltransferase 4 (alpha (1,3) fucosyltransferase, myeloid-specific)
GAPDH glyceraldehyde-3-phosphate dehydrogenase
GARS glycyl-tRNA synthetase
GART phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase
GATA6 GATA binding protein 6
GCG glucagon
GCHFR GTP cyclohydrolase I feedback regulator
GEMIN2 gem (nuclear organelle) associated protein 2
GEMIN4 gem (nuclear organelle) associated protein 4
GEMIN6 gem (nuclear organelle) associated protein 6
GEMIN8 gem (nuclear organelle) associated protein 8
GFAP glial fibrillary acidic protein
GJB1 gap junction protein, beta 1, 32kDa
GM2A GM2 ganglioside activator
GORASP1 golgi reassembly stacking protein 1, 65kDa
GRAP2 GRB2-related adaptor protein 2
GRIN2A glutamate receptor, ionotropic, N-methyl D-aspartate 2A
GSK3B glycogen synthase kinase 3 beta
GTF2H1 general transcription factor IIH, polypeptide 1, 62kDa
GTF2H2 general transcription factor IIH, polypeptide 2, 44kDa
GTF2H3 general transcription factor IIH, polypeptide 3, 34kDa
GTF2H4 general transcription factor IIH, polypeptide 4, 52kDa
GTF2H5 general transcription factor IIH, polypeptide 5
HAPLN1 hyaluronan and proteoglycan link protein 1
HCN1 hyperpolarization activated cyclic nucleotide gated potassium channel 1
HCN2 hyperpolarization activated cyclic nucleotide gated potassium channel 2
HDAC2 histone deacetylase 2
HDAC4 histone deacetylase 4
HDAC9 histone deacetylase 9
HEXA hexosaminidase A (alpha polypeptide)
HNRNPA1 heterogeneous nuclear ribonucleoprotein A1
HNRNPR heterogeneous nuclear ribonucleoprotein R
HOXA5 homeobox A5
HSPB1 heat shock 27kDa protein 1
HSPB3 heat shock 27kDa protein 3
HSPB8 heat shock 22kDa protein 8
HSPG2 heparan sulfate proteoglycan 2
HTRA2 HtrA serine peptidase 2
HTT huntingtin
IAPP islet amyloid polypeptide
IFI44 interferon-induced protein 44
IGF1 insulin-like growth factor 1 (somatomedin C)
IGF1R insulin-like growth factor 1 receptor
IGF2 insulin-like growth factor 2
IGFALS insulin-like growth factor binding protein, acid labile subunit
IGHMBP2 immunoglobulin mu binding protein 2
IL12A interleukin 12A
IL1B interleukin 1, beta
IL6 interleukin 6
ITGA11 integrin, alpha 11
KCNK9 potassium channel, two pore domain subfamily K, member 9
KDSR 3-ketodihydrosphingosine reductase
KHDRBS1 KH domain containing, RNA binding, signal transduction associated 1
KHSRP KH-type splicing regulatory protein
KIDINS220 kinase D-interacting substrate, 220kDa
KIF1B kinesin family member 1B
KIT v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog
KLF15 Kruppel-like factor 15
KLF4 Kruppel-like factor 4 (gut)
LAMC2 laminin, gamma 2
LAS1L LAS1-like (S. cerevisiae)
LBR lamin B receptor
LEF1 lymphoid enhancer-binding factor 1
LGALS3 lectin, galactoside-binding, soluble, 3
LIX1 Lix1 homolog (chicken)
LMNA lamin A/C
LOC105375355 uroplakin-3b
LSM2 LSM2 homolog, U6 small nuclear RNA associated (S. cerevisiae)
MAD2L1BP MAD2L1 binding protein
MAGT1 magnesium transporter 1
MAP1B microtubule-associated protein 1B
MAP3K10 mitogen-activated protein kinase kinase kinase 10
MAPK1 mitogen-activated protein kinase 1
MAPK10 mitogen-activated protein kinase 10
MAPK14 mitogen-activated protein kinase 14
MBP myelin basic protein
MDM2 MDM2 proto-oncogene, E3 ubiquitin protein ligase
MDM4 MDM4, p53 regulator
MECP2 methyl CpG binding protein 2
MNAT1 MNAT CDK-activating kinase assembly factor 1
MORC2 MORC family CW-type zinc finger 2
MSTN myostatin
MUC1 mucin 1, cell surface associated
MYH7 myosin, heavy chain 7, cardiac muscle, beta
MYOG myogenin (myogenic factor 4)
NAIP NLR family, apoptosis inhibitory protein
NCALD neurocalcin delta
NCDN neurochondrin
NCOR2 nuclear receptor corepressor 2
NEDD8 neural precursor cell expressed, developmentally down-regulated 8
NEFH neurofilament, heavy polypeptide
NEFL neurofilament, light polypeptide
NFKB1 nuclear factor of kappa light polypeptide gene enhancer in B-cells 1
NOS1 nitric oxide synthase 1 (neuronal)
NOS2 nitric oxide synthase 2, inducible
NR1D1 nuclear receptor subfamily 1, group D, member 1
NRG1 neuregulin 1
NRXN2 neurexin 2
NUCLEOLIN nucleolin multifunctional protein
NUP62 nucleoporin 62kDa
OCLN occludin
OXA1L oxidase (cytochrome c) assembly 1-like
PAX3 paired box 3
PAX7 paired box 7
PFN1 profilin 1
PGK1 phosphoglycerate kinase 1
PLA1A phospholipase A1 member A
PLEKHG5 pleckstrin homology domain containing, family G (with RhoGef domain) member 5
PLS3 plastin 3
PML promyelocytic leukemia
POLDIP2 polymerase (DNA-directed), delta interacting protein 2
POP5 processing of precursor 5, ribonuclease P/MRP subunit (S. cerevisiae)
POP7 processing of precursor 7, ribonuclease P/MRP subunit (S. cerevisiae)
POTEF POTE ankyrin domain family, member F
PPARG peroxisome proliferator-activated receptor gamma
PPARGC1A peroxisome proliferator-activated receptor gamma, coactivator 1 alpha
PPP1R11 protein phosphatase 1, regulatory (inhibitor) subunit 11
PRMT5 protein arginine methyltransferase 5
PSMD4 proteasome (prosome, macropain) 26S subunit, non-ATPase, 4
PTEN phosphatase and tensin homolog
PTGS2 prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)
PVALB parvalbumin
RAB1A RAB1A, member RAS oncogene family
RAB8A RAB8A, member RAS oncogene family
RBM7 RNA binding motif protein 7
RELA v-rel avian reticuloendotheliosis viral oncogene homolog A
RNASE4 ribonuclease, RNase A family, 4
RNF19A ring finger protein 19A, RBR E3 ubiquitin protein ligase
RNPC3 RNA-binding region (RNP1, RRM) containing 3
RPL3 ribosomal protein L3
RPL9 ribosomal protein L9
RPS6KB2 ribosomal protein S6 kinase, 70kDa, polypeptide 2
RYR1 ryanodine receptor 1 (skeletal)
S100A1 S100 calcium binding protein A1
S100A10 S100 calcium binding protein A10
S100B S100 calcium binding protein B
SCAF11 SR-related CTD-associated factor 11
SCO2 SCO2 cytochrome c oxidase assembly protein
SERF1A small EDRK-rich factor 1A (telomeric)
SERF1B small EDRK-rich factor 1B (centromeric)
SETX senataxin
SGSM3 small G protein signaling modulator 3
SIGMAR1 sigma non-opioid intracellular receptor 1
SLC1A3 solute carrier family 1 (glial high affinity glutamate transporter), member 3
SLC23A2 solute carrier family 23 (ascorbic acid transporter), member 2
SLC25A21 solute carrier family 25 (mitochondrial oxoadipate carrier), member 21
SLC25A46 solute carrier family 25, member 46
SLC7A10 solute carrier family 7 (neutral amino acid transporter light chain, asc system), member 10
SLC9A3R2 solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 regulator 2
SLCO2A1 solute carrier organic anion transporter family, member 2A1
SMN1 survival of motor neuron 1, telomeric
SMN2 survival of motor neuron 2, centromeric
SMNDC1 survival motor neuron domain containing 1
SNCA synuclein, alpha (non A4 component of amyloid precursor)
SNRPN small nuclear ribonucleoprotein polypeptide N
SNURF SNRPN upstream reading frame
SOCS2 suppressor of cytokine signaling 2
SOD1 superoxide dismutase 1, soluble
SPP1 secreted phosphoprotein 1
SQSTM1 sequestosome 1
SRF serum response factor (c-fos serum response element-binding transcription factor)
SRSF1 serine/arginine-rich splicing factor 1
STARD13 StAR-related lipid transfer (START) domain containing 13
STAT5A signal transducer and activator of transcription 5A
STAT5B signal transducer and activator of transcription 5B
STATH statherin
STMN1 stathmin 1
STRAP serine/threonine kinase receptor associated protein
SYNCRIP synaptotagmin binding, cytoplasmic RNA interacting protein
SYT1 synaptotagmin I
TARDBP TAR DNA binding protein
TBCD tubulin folding cofactor D
TBCE tubulin folding cofactor E
TFRC transferrin receptor
TIA1 TIA1 cytotoxic granule-associated RNA binding protein
TK2 thymidine kinase 2, mitochondrial
TMEM41B transmembrane protein 41B
TNF tumor necrosis factor
TP53 tumor protein p53
TRA2B transformer 2 beta homolog (Drosophila)
TRH thyrotropin-releasing hormone
TRIP4 thyroid hormone receptor interactor 4
TRPV4 transient receptor potential cation channel, subfamily V, member 4
TTN titin
TYMP thymidine phosphorylase
UBA1 ubiquitin-like modifier activating enzyme 1
UCHL1 ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase)
VAPB VAMP (vesicle-associated membrane protein)-associated protein B and C
VDAC2 voltage-dependent anion channel 2
VIM vimentin
VPS54 vacuolar protein sorting 54 homolog (S. cerevisiae)
VRK1 vaccinia related kinase 1
WDR77 WD repeat domain 77
WNK1 WNK lysine deficient protein kinase 1
WRAP53 WD repeat containing, antisense to TP53
XCL1 chemokine (C motif) ligand 1
ZAP70 zeta-chain (TCR) associated protein kinase 70kDa
ZEB2 zinc finger E-box binding homeobox 2
ZPR1 ZPR1 zinc finger