spinal muscular atrophy Gene Set

Dataset DISEASES Text-mining Gene-Disease Assocation Evidence Scores
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)
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Genes

175 genes co-occuring with the disease spinal muscular atrophy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

Symbol Name Standardized Value
SMN2 survival of motor neuron 2, centromeric 3.73992
SMN1 survival of motor neuron 1, telomeric 3.50797
AR androgen receptor 2.37473
NAIP NLR family, apoptosis inhibitory protein 2.0527
IGHMBP2 immunoglobulin mu binding protein 2 2.03155
DDX20 DEAD (Asp-Glu-Ala-Asp) box polypeptide 20 1.49438
HNRNPA1 heterogeneous nuclear ribonucleoprotein A1 1.48516
COIL coilin 1.35115
GEMIN4 gem (nuclear organelle) associated protein 4 1.24385
SERF1A small EDRK-rich factor 1A (telomeric) 1.24341
SERF1B small EDRK-rich factor 1B (centromeric) 1.24341
GEMIN5 gem (nuclear organelle) associated protein 5 1.22822
HNRNPR heterogeneous nuclear ribonucleoprotein R 1.19143
MYPOP Myb-related transcription factor, partner of profilin 1.1507
TAF9 TAF9 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 32kDa 1.12319
SPECC1 sperm antigen with calponin homology and coiled-coil domains 1 1.0837
STRAP serine/threonine kinase receptor associated protein 1.07278
PPP4R2 protein phosphatase 4, regulatory subunit 2 1.05639
PLS3 plastin 3 1.05093
GTF2H2 general transcription factor IIH, polypeptide 2, 44kDa 1.04714
HNRNPDL heterogeneous nuclear ribonucleoprotein D-like 1.03282
HTT huntingtin 1.02945
KHDRBS1 KH domain containing, RNA binding, signal transduction associated 1 1.01385
SRSF1 serine/arginine-rich splicing factor 1 1.00414
HNRNPC heterogeneous nuclear ribonucleoprotein C (C1/C2) 1.00372
MAP1B microtubule-associated protein 1B 0.993174
AFF2 AF4/FMR2 family, member 2 0.978006
ZPR1 ZPR1 zinc finger 0.97212
GEMIN6 gem (nuclear organelle) associated protein 6 0.904442
VRK1 vaccinia related kinase 1 0.902389
PHAX phosphorylated adaptor for RNA export 0.899514
TIMM50 translocase of inner mitochondrial membrane 50 homolog (S. cerevisiae) 0.89623
GEMIN8 gem (nuclear organelle) associated protein 8 0.847898
DCPS decapping enzyme, scavenger 0.797872
NOP58 NOP58 ribonucleoprotein 0.791311
DNAJB2 DnaJ (Hsp40) homolog, subfamily B, member 2 0.765943
TMF1 TATA element modulatory factor 1 0.764718
CHODL chondrolectin 0.723694
EFHC2 EF-hand domain (C-terminal) containing 2 0.701526
FBLL1 fibrillarin-like 1 0.697109
SVIL supervillin 0.695504
UBA1 ubiquitin-like modifier activating enzyme 1 0.695504
ARHGAP22 Rho GTPase activating protein 22 0.691094
LIX1 Lix1 homolog (chicken) 0.682693
ZKSCAN3 zinc finger with KRAB and SCAN domains 3 0.675909
GEMIN7 gem (nuclear organelle) associated protein 7 0.664769
ATP6V1B2 ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B2 0.650113
COX5B cytochrome c oxidase subunit Vb 0.632777
PFN2 profilin 2 0.63042
ANKS1B ankyrin repeat and sterile alpha motif domain containing 1B 0.629635
APPL1 adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 1 0.622967
ATXN1 ataxin 1 0.620226
SV2C synaptic vesicle glycoprotein 2C 0.617486
BICD2 bicaudal D homolog 2 (Drosophila) 0.610838
BICD1 bicaudal D homolog 1 (Drosophila) 0.6003
TRA2B transformer 2 beta homolog (Drosophila) 0.583552
SCO2 SCO2 cytochrome c oxidase assembly protein 0.574994
TRPV4 transient receptor potential cation channel, subfamily V, member 4 0.5645
HEXA hexosaminidase A (alpha polypeptide) 0.544318
NRXN2 neurexin 2 0.534635
DNAJB1 DnaJ (Hsp40) homolog, subfamily B, member 1 0.533861
YIPF1 Yip1 domain family, member 1 0.529994
SARNP SAP domain containing ribonucleoprotein 0.508808
SRSF9 serine/arginine-rich splicing factor 9 0.497703
CHML choroideremia-like (Rab escort protein 2) 0.496557
EMX1 empty spiracles homeobox 1 0.490072
TFEB transcription factor EB 0.474498
HDAC9 histone deacetylase 9 0.468819
HNRNPM heterogeneous nuclear ribonucleoprotein M 0.466928
NOP56 NOP56 ribonucleoprotein 0.440162
ARHGEF9 Cdc42 guanine nucleotide exchange factor (GEF) 9 0.438282
TARDBP TAR DNA binding protein 0.437906
U2AF2 U2 small nuclear RNA auxiliary factor 2 0.436026
ATXN3 ataxin 3 0.434148
IGFALS insulin-like growth factor binding protein, acid labile subunit 0.42289
SLC23A2 solute carrier family 23 (ascorbic acid transporter), member 2 0.415773
HSPA4 heat shock 70kDa protein 4 0.415024
NEXN nexilin (F actin binding protein) 0.399334
TRIM63 tripartite motif containing 63, E3 ubiquitin protein ligase 0.386679
CREBBP CREB binding protein 0.377031
CDK2AP1 cyclin-dependent kinase 2 associated protein 1 0.370368
IGF2BP1 insulin-like growth factor 2 mRNA binding protein 1 0.367779
SLC23A1 solute carrier family 23 (ascorbic acid transporter), member 1 0.366671
GLE1 GLE1 RNA export mediator 0.361133
DHRS2 dehydrogenase/reductase (SDR family) member 2 0.346777
CBS cystathionine-beta-synthase 0.335046
PRMT2 protein arginine methyltransferase 2 0.332852
C21ORF2 chromosome 21 open reading frame 2 0.32993
DDX47 DEAD (Asp-Glu-Ala-Asp) box polypeptide 47 0.316092
PFN1 profilin 1 0.31464
SRSF3 serine/arginine-rich splicing factor 3 0.311014
HDAC6 histone deacetylase 6 0.298731
MN1 meningioma (disrupted in balanced translocation) 1 0.296931
ACTB actin, beta 0.287235
G3BP1 GTPase activating protein (SH3 domain) binding protein 1 0.285802
NNAT neuronatin 0.277227
PEX1 peroxisomal biogenesis factor 1 0.274732
DOT1L DOT1-like histone H3K79 methyltransferase 0.274732
TGFB1 transforming growth factor, beta 1 0.270464
GTF2H4 general transcription factor IIH, polypeptide 4, 52kDa 0.269398
BSN bassoon presynaptic cytomatrix protein 0.269398
FBXO32 F-box protein 32 0.268687
RAN RAN, member RAS oncogene family 0.263014
ACTG1 actin gamma 1 0.258417
MYL12A myosin, light chain 12A, regulatory, non-sarcomeric 0.253479
ST13 suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein) 0.251718
CARM1 coactivator-associated arginine methyltransferase 1 0.250311
HNRNPU heterogeneous nuclear ribonucleoprotein U (scaffold attachment factor A) 0.247852
FKTN fukutin 0.247501
ZFX zinc finger protein, X-linked 0.237357
GDA guanine deaminase 0.234225
FST follistatin 0.230063
PABPC1 poly(A) binding protein, cytoplasmic 1 0.222136
USP9X ubiquitin specific peptidase 9, X-linked 0.21974
ZFY zinc finger protein, Y-linked 0.211597
HDAC5 histone deacetylase 5 0.205254
DBN1 drebrin 1 0.204593
SYT1 synaptotagmin I 0.200006
FAM155B family with sequence similarity 155, member B 0.199033
SOD2 superoxide dismutase 2, mitochondrial 0.197742
MSTN myostatin 0.19742
DNAJA1 DnaJ (Hsp40) homolog, subfamily A, member 1 0.196139
ASAH1 N-acylsphingosine amidohydrolase (acid ceramidase) 1 0.188632
AHI1 Abelson helper integration site 1 0.171535
SLC1A2 solute carrier family 1 (glial high affinity glutamate transporter), member 2 0.171535
GJA5 gap junction protein, alpha 5, 40kDa 0.169571
AGO2 argonaute RISC catalytic component 2 0.157765
GPR162 G protein-coupled receptor 162 0.150273
HTN3 histatin 3 0.142963
GBE1 glucan (1,4-alpha-), branching enzyme 1 0.142961
ROM1 retinal outer segment membrane protein 1 0.142909
CKMT1A creatine kinase, mitochondrial 1A 0.142878
CKMT2 creatine kinase, mitochondrial 2 (sarcomeric) 0.142821
CKMT1B creatine kinase, mitochondrial 1B 0.142627
SYP synaptophysin 0.142039
CKB creatine kinase, brain 0.141823
CA3 carbonic anhydrase III 0.141586
COL6A1 collagen, type VI, alpha 1 0.141395
SGCD sarcoglycan, delta (35kDa dystrophin-associated glycoprotein) 0.141296
ACTA1 actin, alpha 1, skeletal muscle 0.141234
SLC1A3 solute carrier family 1 (glial high affinity glutamate transporter), member 3 0.141214
CKM creatine kinase, muscle 0.140532
OGT O-linked N-acetylglucosamine (GlcNAc) transferase 0.140411
SGCA sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein) 0.140246
HEXB hexosaminidase B (beta polypeptide) 0.139944
FOXP2 forkhead box P2 0.138396
GRB2 growth factor receptor-bound protein 2 0.135963
SCN5A sodium channel, voltage gated, type V alpha subunit 0.135901
PMP22 peripheral myelin protein 22 0.135736
LDB3 LIM domain binding 3 0.135659
PKLR pyruvate kinase, liver and RBC 0.135409
CAMP cathelicidin antimicrobial peptide 0.133307
GRP gastrin-releasing peptide 0.132499
PKM pyruvate kinase, muscle 0.132428
ATN1 atrophin 1 0.122356
CELF1 CUGBP, Elav-like family member 1 0.121941
ATXN7 ataxin 7 0.117115
CLCN1 chloride channel, voltage-sensitive 1 0.11703
NR3C1 nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor) 0.1158
SOD1 superoxide dismutase 1, soluble 0.113892
NTF4 neurotrophin 4 0.111066
NDP Norrie disease (pseudoglioma) 0.110996
MBNL1 muscleblind-like splicing regulator 1 0.110682
PTMS parathymosin 0.110159
ISL1 ISL LIM homeobox 1 0.108715
GDNF glial cell derived neurotrophic factor 0.108641
CST7 cystatin F (leukocystatin) 0.107784
ERN1 endoplasmic reticulum to nucleus signaling 1 0.107177
SCN4A sodium channel, voltage gated, type IV alpha subunit 0.106676
HSF1 heat shock transcription factor 1 0.105296
ATF6 activating transcription factor 6 0.104489
HSD17B1P1 hydroxysteroid (17-beta) dehydrogenase 1 pseudogene 1 0.102744
HSP90AA1 heat shock protein 90kDa alpha (cytosolic), class A member 1 0.099826
DNAH8 dynein, axonemal, heavy chain 8 0.099826
GJB1 gap junction protein, beta 1, 32kDa 0.098512