Cornelia De Lange Syndrome Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description A genetic disease that is characterized by slow growth before and after birth, intellectual disability that is usually severe to profound, skeletal abnormalities involving the arms and hands, and distinctive facial features. (Human Disease Ontology, DOID_11725)
External Link https://www.disgenet.org/browser/0/1/0/C1853099
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Genes

53 genes associated with the disease Cornelia De Lange Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
AFF4 AF4/FMR2 family, member 4
ANKRD11 ankyrin repeat domain 11
ARSD arylsulfatase D
ATR ATR serine/threonine kinase
BCL9 B-cell CLL/lymphoma 9
BRD4 bromodomain containing 4
CARS1 cysteinyl-tRNA synthetase 1
CENPJ centromere protein J
CEP63 centrosomal protein 63kDa
CHRD chordin
CRABP2 cellular retinoic acid binding protein 2
CREBBP CREB binding protein
CTCF CCCTC-binding factor (zinc finger protein)
DDX11 DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11
DYM dymeclin
EP300 E1A binding protein p300
EPS15L1 epidermal growth factor receptor pathway substrate 15-like 1
ESCO2 establishment of sister chromatid cohesion N-acetyltransferase 2
EXT1 exostosin glycosyltransferase 1
FOXF1 forkhead box F1
GALNT14 polypeptide N-acetylgalactosaminyltransferase 14
GH1 growth hormone 1
GPT glutamic-pyruvate transaminase (alanine aminotransferase)
GRM1 glutamate receptor, metabotropic 1
GSC goosecoid homeobox
HDAC2 histone deacetylase 2
HDAC8 histone deacetylase 8
KMT2A lysine (K)-specific methyltransferase 2A
KRAS Kirsten rat sarcoma viral oncogene homolog
LGSN lengsin, lens protein with glutamine synthetase domain
LZTR1 leucine-zipper-like transcription regulator 1
MAU2 MAU2 sister chromatid cohesion factor
MYC v-myc avian myelocytomatosis viral oncogene homolog
NAALADL2 N-acetylated alpha-linked acidic dipeptidase-like 2
NIPBL Nipped-B homolog (Drosophila)
PDS5A PDS5 cohesin associated factor A
PDS5B PDS5 cohesin associated factor B
PHIP pleckstrin homology domain interacting protein
PTPN11 protein tyrosine phosphatase, non-receptor type 11
RAD21 RAD21 homolog (S. pombe)
RAF1 Raf-1 proto-oncogene, serine/threonine kinase
RIT1 Ras-like without CAAX 1
SETD5 SET domain containing 5
SHOX2 short stature homeobox 2
SMC1A structural maintenance of chromosomes 1A
SMC3 structural maintenance of chromosomes 3
SOS1 son of sevenless homolog 1 (Drosophila)
STAG1 stromal antigen 1
STAG2 stromal antigen 2
TAF6 TAF6 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 80kDa
TNKS tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase
TRPS1 trichorhinophalangeal syndrome I
UTP23 UTP23, small subunit (SSU) processome component, homolog (yeast)