Beckwith-Wiedemann Syndrome Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description A syndrome characterized by overgrowth (macrosomia), an increased risk of childhood cancer and congenital malformations. (Human Disease Ontology, DOID_5572)
External Link https://www.disgenet.org/browser/0/1/0/C0004903
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Genes

95 genes associated with the disease Beckwith-Wiedemann Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
ABCC8 ATP-binding cassette, sub-family C (CFTR/MRP), member 8
AFP alpha-fetoprotein
AMER1 APC membrane recruitment protein 1
APC adenomatous polyposis coli
ASAH1 N-acylsphingosine amidohydrolase (acid ceramidase) 1
ATAD5 ATPase family, AAA domain containing 5
C11ORF21 chromosome 11 open reading frame 21
CALCA calcitonin-related polypeptide alpha
CBS cystathionine-beta-synthase
CD48 CD48 molecule
CD81 CD81 molecule
CDKN1C cyclin-dependent kinase inhibitor 1C (p57, Kip2)
CEND1 cell cycle exit and neuronal differentiation 1
CIB2 calcium and integrin binding family member 2
CMTR1 cap methyltransferase 1
CORO1A coronin, actin binding protein, 1A
CTCF CCCTC-binding factor (zinc finger protein)
DDX11 DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11
DIO3 deiodinase, iodothyronine, type III
DLK1 delta-like 1 homolog (Drosophila)
DNMT1 DNA (cytosine-5-)-methyltransferase 1
ELN elastin
GNAS GNAS complex locus
GPC3 glypican 3
GRB10 growth factor receptor-bound protein 10
GTF2I general transcription factor IIi
GTF2IRD1 GTF2I repeat domain containing 1
HIC1 hypermethylated in cancer 1
HRAS Harvey rat sarcoma viral oncogene homolog
IFT46 intraflagellar transport 46
IGF1 insulin-like growth factor 1 (somatomedin C)
IGF1R insulin-like growth factor 1 receptor
IGF2 insulin-like growth factor 2
IGF2R insulin-like growth factor 2 receptor
IL33R interleukin 33 receptor
INS-IGF2 INS-IGF2 readthrough
KCNJ11 potassium channel, inwardly rectifying subfamily J, member 11
KCNQ1 potassium channel, voltage gated KQT-like subfamily Q, member 1
LGALS1 lectin, galactoside-binding, soluble, 1
LMO1 LIM domain only 1 (rhombotin 1)
LOC102724560 cystathionine beta-synthase
LOC105371045 uncharacterized LOC105371045
MAT1A methionine adenosyltransferase I, alpha
MTHFR methylenetetrahydrofolate reductase (NAD(P)H)
MYOD1 myogenic differentiation 1
NLRP2 NLR family, pyrin domain containing 2
NLRP7 NLR family, pyrin domain containing 7
NRAS neuroblastoma RAS viral (v-ras) oncogene homolog
NSD1 nuclear receptor binding SET domain protein 1
PALB2 partner and localizer of BRCA2
PAX6 paired box 6
PGAP2 post-GPI attachment to proteins 2
PHPT1 phosphohistidine phosphatase 1
PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
PLAGL1 pleiomorphic adenoma gene-like 1
PLXNA2 plexin A2
POU5F1 POU class 5 homeobox 1
PTH parathyroid hormone
RASSF7 Ras association (RalGDS/AF-6) domain family (N-terminal) member 7
S100A8 S100 calcium binding protein A8
SGCE sarcoglycan, epsilon
SLC22A18 solute carrier family 22, member 18
SMAD3 SMAD family member 3
SMS spermine synthase
SMUG1 single-strand-selective monofunctional uracil-DNA glycosylase 1
SNRPN small nuclear ribonucleoprotein polypeptide N
SOX2 SRY (sex determining region Y)-box 2
SOX3 SRY (sex determining region Y)-box 3
SPTBN1 spectrin, beta, non-erythrocytic 1
TBL2 transducin (beta)-like 2
TBPL1 TBP-like 1
TERT telomerase reverse transcriptase
TFPI tissue factor pathway inhibitor (lipoprotein-associated coagulation inhibitor)
TGM1 transglutaminase 1
TP53 tumor protein p53
TRPM1 transient receptor potential cation channel, subfamily M, member 1
TRPM5 transient receptor potential cation channel, subfamily M, member 5
TYRP1 tyrosinase-related protein 1
UROD uroporphyrinogen decarboxylase
VPS51 vacuolar protein sorting 51 homolog (S. cerevisiae)
WDR20 WD repeat domain 20
WEE1 WEE1 G2 checkpoint kinase
WT1 Wilms tumor 1
ZACN zinc activated ligand-gated ion channel
ZDBF2 zinc finger, DBF-type containing 2
ZFP57 ZFP57 zinc finger protein
ZNF143 zinc finger protein 143
ZNF214 zinc finger protein 214
ZNF215 zinc finger protein 215
ZNF436 zinc finger protein 436
ZNF44 zinc finger protein 44
ZNF501 zinc finger protein 501
ZNF569 zinc finger protein 569
ZNF629 zinc finger protein 629
ZNF763 zinc finger protein 763