Charge Syndrome Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description A syndrome that is acterized by a pattern of congenital anomalies including choanal atresia and malformations of the heart, inner ear, and retina. (Human Disease Ontology, DOID_0050834)
External Link https://www.disgenet.org/browser/0/1/0/C0265354
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Genes

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

Symbol Name
AFF2 AF4/FMR2 family, member 2
AZIN2 antizyme inhibitor 2
BRD2 bromodomain containing 2
CAPRIN1 cell cycle associated protein 1
CHD2 chromodomain helicase DNA binding protein 2
CHD7 chromodomain helicase DNA binding protein 7
CHD8 chromodomain helicase DNA binding protein 8
CHDH choline dehydrogenase
COA1 cytochrome c oxidase assembly factor 1 homolog (S. cerevisiae)
FAM124B family with sequence similarity 124B
FAM172A family with sequence similarity 172, member A
FGF8 fibroblast growth factor 8 (androgen-induced)
FMR1 fragile X mental retardation 1
FOXE1 forkhead box E1
FOXN1 forkhead box N1
GADL1 glutamate decarboxylase-like 1
GALNT3 polypeptide N-acetylgalactosaminyltransferase 3
GLUD1 glutamate dehydrogenase 1
IGFALS insulin-like growth factor binding protein, acid labile subunit
IL6 interleukin 6
KCNQ2 potassium channel, voltage gated KQT-like subfamily Q, member 2
KDM2B lysine (K)-specific demethylase 2B
KMT2D lysine (K)-specific methyltransferase 2D
LEP leptin
MBD2 methyl-CpG binding domain protein 2
MTG1 mitochondrial ribosome-associated GTPase 1
NR0B1 nuclear receptor subfamily 0, group B, member 1
NRXN1 neurexin 1
PAX2 paired box 2
PECAM1 platelet/endothelial cell adhesion molecule 1
RERE arginine-glutamic acid dipeptide (RE) repeats
SALL4 spalt-like transcription factor 4
SCN2A sodium channel, voltage gated, type II alpha subunit
SEMA3A sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A
SEMA3E sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E
SLC12A3 solute carrier family 12 (sodium/chloride transporter), member 3
SMARCA1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1
SMARCA2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2
SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4
SOD1 superoxide dismutase 1, soluble
SOX2 SRY (sex determining region Y)-box 2
STATH statherin
TCHP trichoplein, keratin filament binding
TP53 tumor protein p53
VIP vasoactive intestinal peptide
WASHC5 WASH complex subunit 5
ZIC1 Zic family member 1
ZNF385B zinc finger protein 385B