Smith-Magenis Syndrome Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description Smith-Magenis syndrome (SMS) is a complex genetic disorder characterized by variable intellectual deficit, sleep disturbance, craniofacial and skeletal anomalies, psychiatric disorders, and speech and motor delay. (Orphanet Rare Disease Ontology, Orphanet_819)
External Link https://www.disgenet.org/browser/0/1/0/C0795864
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Genes

45 genes associated with the disease Smith-Magenis Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
CLOCK clock circadian regulator
COPS3 COP9 signalosome subunit 3
DDX58 DEAD (Asp-Glu-Ala-Asp) box polypeptide 58
DEAF1 DEAF1 transcription factor
ENDOU endonuclease, polyU-specific
ERBB2 erb-b2 receptor tyrosine kinase 2
EXOSC6 exosome component 6
FLCN folliculin
FLII flightless I homolog (Drosophila)
FMR1 fragile X mental retardation 1
GAD2 glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)
GDF1 growth differentiation factor 1
GH1 growth hormone 1
GRIN2B glutamate receptor, ionotropic, N-methyl D-aspartate 2B
HDAC4 histone deacetylase 4
IFIH1 interferon induced with helicase C domain 1
INS insulin
IQSEC2 IQ motif and Sec7 domain 2
LLGL1 lethal giant larvae homolog 1 (Drosophila)
MBD5 methyl-CpG binding domain protein 5
MFAP4 microfibrillar-associated protein 4
MMP13 matrix metallopeptidase 13
MYO15A myosin XVA
NT5M 5',3'-nucleotidase, mitochondrial
NUDT10 nudix (nucleoside diphosphate linked moiety X)-type motif 10
PMP22 peripheral myelin protein 22
PPP1R13L protein phosphatase 1, regulatory subunit 13 like
PRPF31 pre-mRNA processing factor 31
RAI1 retinoic acid induced 1
RARA retinoic acid receptor, alpha
RARRES3 retinoic acid receptor responder (tazarotene induced) 3
RASD1 RAS, dexamethasone-induced 1
REM1 RAS (RAD and GEM)-like GTP-binding 1
RNF112 ring finger protein 112
RNH1 ribonuclease/angiogenin inhibitor 1
S100A10 S100 calcium binding protein A10
SHC3 SHC (Src homology 2 domain containing) transforming protein 3
SMS spermine synthase
SREBF1 sterol regulatory element binding transcription factor 1
STS steroid sulfatase (microsomal), isozyme S
TCF20 transcription factor 20 (AR1)
TMEM206 transmembrane protein 206
TNFRSF13B tumor necrosis factor receptor superfamily, member 13B
TP53 tumor protein p53
WWOX WW domain containing oxidoreductase