juvenile spinal muscular atrophy Gene Set

Dataset DISEASES Text-mining Gene-Disease Assocation Evidence Scores
Category disease or phenotype associations
Type disease
Description OMIM mapping confirmed by DO. [SN]. (Human Disease Ontology, DOID_12376)
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21 genes co-occuring with the disease juvenile 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 2.08776
SMN1 survival of motor neuron 1, telomeric 1.62694
NAIP NLR family, apoptosis inhibitory protein 1.41271
HEXA hexosaminidase A (alpha polypeptide) 0.931656
TGFB1 transforming growth factor, beta 1 0.847078
GJA5 gap junction protein, alpha 5, 40kDa 0.785574
ROM1 retinal outer segment membrane protein 1 0.719654
CKMT1A creatine kinase, mitochondrial 1A 0.716021
CKMT2 creatine kinase, mitochondrial 2 (sarcomeric) 0.709572
CKMT1B creatine kinase, mitochondrial 1B 0.688692
GPR162 G protein-coupled receptor 162 0.65288
CKB creatine kinase, brain 0.615529
CA3 carbonic anhydrase III 0.597181
SGCD sarcoglycan, delta (35kDa dystrophin-associated glycoprotein) 0.576161
CKM creatine kinase, muscle 0.52729
SGCA sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein) 0.511112
HEXB hexosaminidase B (beta polypeptide) 0.495029
FOXP2 forkhead box P2 0.42589
GRB2 growth factor receptor-bound protein 2 0.346777
SCN5A sodium channel, voltage gated, type V alpha subunit 0.345308
PMP22 peripheral myelin protein 22 0.340906