Congenital Malformation 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/C0495640
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Genes

65 genes associated with the disease Congenital Malformation Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
ACVR1 activin A receptor, type I
ASH1L ash1 (absent, small, or homeotic)-like (Drosophila)
ASXL1 additional sex combs like transcriptional regulator 1
ATR ATR serine/threonine kinase
B3GAT3 beta-1,3-glucuronyltransferase 3
BRCA1 breast cancer 1, early onset
CENPJ centromere protein J
CEP63 centrosomal protein 63kDa
CHD7 chromodomain helicase DNA binding protein 7
CREBBP CREB binding protein
CTU2 cytosolic thiouridylase subunit 2 homolog (S. pombe)
DACT1 dishevelled-binding antagonist of beta-catenin 1
DERL2 derlin 2
DHCR7 7-dehydrocholesterol reductase
DLK1 delta-like 1 homolog (Drosophila)
EDIL3 EGF-like repeats and discoidin I-like domains 3
ENOSF1 enolase superfamily member 1
EP300 E1A binding protein p300
FGFR1 fibroblast growth factor receptor 1
FLNA filamin A, alpha
FOXA2 forkhead box A2
FOXF1 forkhead box F1
FTO fat mass and obesity associated
GLI2 GLI family zinc finger 2
GPC3 glypican 3
GSC goosecoid homeobox
HAAO 3-hydroxyanthranilate 3,4-dioxygenase
HCFC1 host cell factor C1
HDAC8 histone deacetylase 8
KCNMA1 potassium channel, calcium activated large conductance subfamily M alpha, member 1
KDM6A lysine (K)-specific demethylase 6A
KMT2D lysine (K)-specific methyltransferase 2D
KRAS Kirsten rat sarcoma viral oncogene homolog
KYNU kynureninase
LZTR1 leucine-zipper-like transcription regulator 1
MAGEL2 melanoma antigen family L2
MAT1A methionine adenosyltransferase I, alpha
MECP2 methyl CpG binding protein 2
MED12 mediator complex subunit 12
MYCN v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog
PIGA phosphatidylinositol glycan anchor biosynthesis, class A
PIGN phosphatidylinositol glycan anchor biosynthesis, class N
PIGT phosphatidylinositol glycan anchor biosynthesis, class T
PIGV phosphatidylinositol glycan anchor biosynthesis, class V
PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
PRODH proline dehydrogenase (oxidase) 1
PTPN11 protein tyrosine phosphatase, non-receptor type 11
RAB18 RAB18, member RAS oncogene family
RAF1 Raf-1 proto-oncogene, serine/threonine kinase
RECQL4 RecQ protein-like 4
RIT1 Ras-like without CAAX 1
RNF112 ring finger protein 112
SEMA3A sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A
SLCO5A1 solute carrier organic anion transporter family, member 5A1
SMOC1 SPARC related modular calcium binding 1
SOS1 son of sevenless homolog 1 (Drosophila)
STAG2 stromal antigen 2
SULF1 sulfatase 1
TASP1 taspase, threonine aspartase, 1
TBC1D20 TBC1 domain family, member 20
TNFRSF11A tumor necrosis factor receptor superfamily, member 11a, NFKB activator
TRPC5 transient receptor potential cation channel, subfamily C, member 5
WNT5A wingless-type MMTV integration site family, member 5A
ZEB2 zinc finger E-box binding homeobox 2
ZNF148 zinc finger protein 148