Russell-Silver Syndrome Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
External Link https://www.disgenet.org/browser/0/1/0/C0175693
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Genes

98 genes associated with the disease Russell-Silver Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
AIF1 allograft inflammatory factor 1
AIFM1 apoptosis-inducing factor, mitochondrion-associated, 1
AMT aminomethyltransferase
ANXA1 annexin A1
ARX aristaless related homeobox
ATR ATR serine/threonine kinase
BAAT bile acid CoA:amino acid N-acyltransferase
BSCL2 Berardinelli-Seip congenital lipodystrophy 2 (seipin)
CCDC22 coiled-coil domain containing 22
CDKN1C cyclin-dependent kinase inhibitor 1C (p57, Kip2)
CENPJ centromere protein J
CEP63 centrosomal protein 63kDa
CHRM3 cholinergic receptor, muscarinic 3
COL1A1 collagen, type I, alpha 1
COPG2 coatomer protein complex, subunit gamma 2
CPA4 carboxypeptidase A4
CSH1 chorionic somatomammotropin hormone 1 (placental lactogen)
CTCF CCCTC-binding factor (zinc finger protein)
CTCFL CCCTC-binding factor (zinc finger protein)-like
DDC dopa decarboxylase (aromatic L-amino acid decarboxylase)
DES desmin
DLG3 discs, large homolog 3 (Drosophila)
EGF epidermal growth factor
EGFR epidermal growth factor receptor
FGFR3 fibroblast growth factor receptor 3
FOLR1 folate receptor 1 (adult)
FOXP2 forkhead box P2
GARS glycyl-tRNA synthetase
GART phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase
GCSH glycine cleavage system protein H (aminomethyl carrier)
GDNF glial cell derived neurotrophic factor
GFAP glial fibrillary acidic protein
GH1 growth hormone 1
GH2 growth hormone 2
GHR growth hormone receptor
GLDC glycine dehydrogenase (decarboxylating)
GNAS GNAS complex locus
GPI glucose-6-phosphate isomerase
GRB10 growth factor receptor-bound protein 10
HIC1 hypermethylated in cancer 1
HMGA2 high mobility group AT-hook 2
HOXA4 homeobox A4
HSPB1 heat shock 27kDa protein 1
HSPB8 heat shock 22kDa protein 8
IGF1 insulin-like growth factor 1 (somatomedin C)
IGF1R insulin-like growth factor 1 receptor
IGF2 insulin-like growth factor 2
IGFBP1 insulin-like growth factor binding protein 1
IGFBP3 insulin-like growth factor binding protein 3
INS-IGF2 INS-IGF2 readthrough
KCNE1 potassium channel, voltage gated subfamily E regulatory beta subunit 1
KCNIP1 Kv channel interacting protein 1
KCNQ1 potassium channel, voltage gated KQT-like subfamily Q, member 1
KIF1B kinesin family member 1B
KPNA2 karyopherin alpha 2 (RAG cohort 1, importin alpha 1)
KRAS Kirsten rat sarcoma viral oncogene homolog
LZTR1 leucine-zipper-like transcription regulator 1
MAD2L1BP MAD2L1 binding protein
MBD3 methyl-CpG binding domain protein 3
MECP2 methyl CpG binding protein 2
MEST mesoderm specific transcript
NEUROD1 neuronal differentiation 1
NFE2L2 nuclear factor, erythroid 2-like 2
NR3C1 nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)
NSD1 nuclear receptor binding SET domain protein 1
OBSL1 obscurin-like 1
OSBPL5 oxysterol binding protein-like 5
PCNA proliferating cell nuclear antigen
PDGFRB platelet-derived growth factor receptor, beta polypeptide
PEG10 paternally expressed 10
PGR progesterone receptor
PHLDA2 pleckstrin homology-like domain, family A, member 2
PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
PIK3CB phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta
PIK3CD phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta
PIK3CG phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma
PLAG1 pleiomorphic adenoma gene 1
PLAGL1 pleiomorphic adenoma gene-like 1
PTCH1 patched 1
PTPN11 protein tyrosine phosphatase, non-receptor type 11
RAF1 Raf-1 proto-oncogene, serine/threonine kinase
RASGRF1 Ras protein-specific guanine nucleotide-releasing factor 1
RCAN1 regulator of calcineurin 1
RIT1 Ras-like without CAAX 1
SGCE sarcoglycan, epsilon
SMS spermine synthase
SOS1 son of sevenless homolog 1 (Drosophila)
SPAST spastin
SRF serum response factor (c-fos serum response element-binding transcription factor)
STMN1 stathmin 1
TGM1 transglutaminase 1
TLR3 toll-like receptor 3
TSPO translocator protein (18kDa)
UROD uroporphyrinogen decarboxylase
WASHC5 WASH complex subunit 5
WDR20 WD repeat domain 20
ZACN zinc activated ligand-gated ion channel
ZFP57 ZFP57 zinc finger protein