Contiguous Gene 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/C1855496
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Genes

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

Symbol Name
ACVRL1 activin A receptor type II-like 1
ASCL1 achaete-scute family bHLH transcription factor 1
ATR ATR serine/threonine kinase
CHD7 chromodomain helicase DNA binding protein 7
CREBBP CREB binding protein
CRKL v-crk avian sarcoma virus CT10 oncogene homolog-like
CYBB cytochrome b-245, beta polypeptide
EIF4E eukaryotic translation initiation factor 4E
ENG endoglin
EXT1 exostosin glycosyltransferase 1
FOXL2 forkhead box L2
GLI3 GLI family zinc finger 3
GPC5 glypican 5
HBA1 hemoglobin, alpha 1
HBA2 hemoglobin, alpha 2
IGF1 insulin-like growth factor 1 (somatomedin C)
IL1RAPL1 interleukin 1 receptor accessory protein-like 1
KANSL1 KAT8 regulatory NSL complex subunit 1
KCNE5 potassium channel, voltage gated subfamily E regulatory beta subunit 5
MAMLD1 mastermind-like domain containing 1
MAOB monoamine oxidase B
MBP myelin basic protein
MFAP4 microfibrillar-associated protein 4
MSX2 msh homeobox 2
NF1 neurofibromin 1
NR0B1 nuclear receptor subfamily 0, group B, member 1
OPN1LW opsin 1 (cone pigments), long-wave-sensitive
PAG1 phosphoprotein membrane anchor with glycosphingolipid microdomains 1
PAX6 paired box 6
PCBP4 poly(rC) binding protein 4
PDK1 pyruvate dehydrogenase kinase, isozyme 1
PKD1 polycystic kidney disease 1 (autosomal dominant)
POU3F4 POU class 3 homeobox 4
PRKD1 protein kinase D1
PRODH proline dehydrogenase (oxidase) 1
RAI1 retinoic acid induced 1
RPGR retinitis pigmentosa GTPase regulator
RPS6KA6 ribosomal protein S6 kinase, 90kDa, polypeptide 6
RUNX1 runt-related transcription factor 1
SCN8A sodium channel, voltage gated, type VIII alpha subunit
SHANK3 SH3 and multiple ankyrin repeat domains 3
SPRY2 sprouty homolog 2 (Drosophila)
STK11 serine/threonine kinase 11
STXBP1 syntaxin binding protein 1
TBX1 T-box 1
TSC2 tuberous sclerosis 2
TWIST1 twist family bHLH transcription factor 1
UPK3A uroplakin 3A
WT1 Wilms tumor 1