Congenital Exomphalos Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
External Link https://www.disgenet.org/browser/0/1/0/C1306503
Similar Terms
Downloads & Tools

Genes

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

Symbol Name
ABCC9 ATP-binding cassette, sub-family C (CFTR/MRP), member 9
ACCS 1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)
ACSS2 acyl-CoA synthetase short-chain family member 2
ACTG2 actin, gamma 2, smooth muscle, enteric
ADAMTS2 ADAM metallopeptidase with thrombospondin type 1 motif, 2
ADNP activity-dependent neuroprotector homeobox
AEBP1 AE binding protein 1
AFP alpha-fetoprotein
AGA aspartylglucosaminidase
AGPAT2 1-acylglycerol-3-phosphate O-acyltransferase 2
ALDH18A1 aldehyde dehydrogenase 18 family, member A1
ANTXR1 anthrax toxin receptor 1
ARID1B AT rich interactive domain 1B (SWI1-like)
ARSB arylsulfatase B
ARVCF armadillo repeat gene deleted in velocardiofacial syndrome
ARX aristaless related homeobox
ATAD1 ATPase family, AAA domain containing 1
ATP6V0A2 ATPase, H+ transporting, lysosomal V0 subunit a2
ATP7A ATPase, Cu++ transporting, alpha polypeptide
ATRX alpha thalassemia/mental retardation syndrome X-linked
AUTS2 autism susceptibility candidate 2
B3GLCT beta 3-glucosyltransferase
BAZ1B bromodomain adjacent to zinc finger domain, 1B
BCL11B B-cell CLL/lymphoma 11B (zinc finger protein)
BRCA1 breast cancer 1, early onset
BRCA2 breast cancer 2, early onset
BRIP1 BRCA1 interacting protein C-terminal helicase 1
BSCL2 Berardinelli-Seip congenital lipodystrophy 2 (seipin)
C1S complement component 1, s subcomponent
CAPN9 calpain 9
CASK calcium/calmodulin-dependent serine protein kinase (MAGUK family)
CCBE1 collagen and calcium binding EGF domains 1
CDCA7 cell division cycle associated 7
CDH11 cadherin 11, type 2, OB-cadherin (osteoblast)
CDKL5 cyclin-dependent kinase-like 5
CDKN1C cyclin-dependent kinase inhibitor 1C (p57, Kip2)
CHD7 chromodomain helicase DNA binding protein 7
CHRNA7 cholinergic receptor, nicotinic, alpha 7 (neuronal)
CHRNG cholinergic receptor, nicotinic, gamma (muscle)
CHST14 carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14
CLDN19 claudin 19
CLIP2 CAP-GLY domain containing linker protein 2
COL1A1 collagen, type I, alpha 1
COL2A1 collagen, type II, alpha 1
COL3A1 collagen, type III, alpha 1
COL5A1 collagen, type V, alpha 1
COL5A2 collagen, type V, alpha 2
COLEC10 collectin sub-family member 10 (C-type lectin)
COLEC11 collectin sub-family member 11
COMT catechol-O-methyltransferase
DLL3 delta-like 3 (Drosophila)
DNMT3A DNA (cytosine-5-)-methyltransferase 3 alpha
DNMT3B DNA (cytosine-5-)-methyltransferase 3 beta
DUOX2 dual oxidase 2
DUOXA2 dual oxidase maturation factor 2
DVL1 dishevelled segment polarity protein 1
DVL3 dishevelled segment polarity protein 3
EED embryonic ectoderm development
EFNB1 ephrin-B1
ELMO2 engulfment and cell motility 2
ELN elastin
ERCC2 excision repair cross-complementation group 2
ERCC3 excision repair cross-complementation group 3
ERCC4 excision repair cross-complementation group 4
EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit
FANCA Fanconi anemia, complementation group A
FANCB Fanconi anemia, complementation group B
FANCC Fanconi anemia, complementation group C
FANCD2 Fanconi anemia, complementation group D2
FANCE Fanconi anemia, complementation group E
FANCF Fanconi anemia, complementation group F
FANCG Fanconi anemia, complementation group G
FANCI Fanconi anemia, complementation group I
FANCL Fanconi anemia, complementation group L
FANCM Fanconi anemia, complementation group M
FBLN5 fibulin 5
FBN1 fibrillin 1
FGD1 FYVE, RhoGEF and PH domain containing 1
FGFR2 fibroblast growth factor receptor 2
FLNA filamin A, alpha
FOXE3 forkhead box E3
FRAS1 Fraser extracellular matrix complex subunit 1
FREM2 FRAS1 related extracellular matrix protein 2
FTO fat mass and obesity associated
FZD2 frizzled class receptor 2
GATA6 GATA binding protein 6
GDF11 growth differentiation factor 11
GJA1 gap junction protein, alpha 1, 43kDa
GLI3 GLI family zinc finger 3
GLRA1 glycine receptor, alpha 1
GLRB glycine receptor, beta
GMNN geminin, DNA replication inhibitor
GNAO1 guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O
GNPTAB N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits
GP1BB glycoprotein Ib (platelet), beta polypeptide
GPC3 glypican 3
GPC4 glypican 4
GPC6 glypican 6
GPHN gephyrin
GRIP1 glutamate receptor interacting protein 1
GTF2E2 general transcription factor IIE, polypeptide 2, beta 34kDa
GTF2H5 general transcription factor IIH, polypeptide 5
GTF2I general transcription factor IIi
GTF2IRD1 GTF2I repeat domain containing 1
GUSB glucuronidase, beta
HDAC4 histone deacetylase 4
HELLS helicase, lymphoid-specific
HES7 hes family bHLH transcription factor 7
HESX1 HESX homeobox 1
HIRA histone cell cycle regulator
HSPG2 heparan sulfate proteoglycan 2
IDS iduronate 2-sulfatase
IDUA iduronidase, alpha-L-
IGF2 insulin-like growth factor 2
IKBKG inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma
INSR insulin receptor
IRF6 interferon regulatory factor 6
ISL1 ISL LIM homeobox 1
IYD iodotyrosine deiodinase
JMJD1C jumonji domain containing 1C
KCNA1 potassium channel, voltage gated shaker related subfamily A, member 1
KCNH1 potassium channel, voltage gated eag related subfamily H, member 1
KCNJ8 potassium channel, inwardly rectifying subfamily J, member 8
KIF7 kinesin family member 7
LBR lamin B receptor
LFNG LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase
LHX3 LIM homeobox 3
LHX4 LIM homeobox 4
LIF leukemia inhibitory factor
LIMK1 LIM domain kinase 1
LMOD1 leiomodin 1 (smooth muscle)
LRP1 low density lipoprotein receptor-related protein 1
LRP2 low density lipoprotein receptor-related protein 2
LTBP4 latent transforming growth factor beta binding protein 4
MAD2L2 MAD2 mitotic arrest deficient-like 2 (yeast)
MAPRE2 microtubule-associated protein, RP/EB family, member 2
MASP1 mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)
MBTPS2 membrane-bound transcription factor peptidase, site 2
MED12 mediator complex subunit 12
MEGF8 multiple EGF-like-domains 8
MESP2 mesoderm posterior basic helix-loop-helix transcription factor 2
MPLKIP M-phase specific PLK1 interacting protein
MSX1 msh homeobox 1
MTOR mechanistic target of rapamycin (serine/threonine kinase)
MYH11 myosin, heavy chain 11, smooth muscle
MYH3 myosin, heavy chain 3, skeletal muscle, embryonic
MYLK myosin light chain kinase
NALCN sodium leak channel, non selective
NECTIN1 nectin cell adhesion molecule 1
NEUROD2 neuronal differentiation 2
NFIX nuclear factor I/X (CCAAT-binding transcription factor)
NKX2-5 NK2 homeobox 5
NOTCH2 notch 2
NOTCH3 notch 3
NPIPA1 nuclear pore complex interacting protein family, member A1
NPIPA2 nuclear pore complex interacting protein family, member A2
NSDHL NAD(P) dependent steroid dehydrogenase-like
NXN nucleoredoxin
OCRL oculocerebrorenal syndrome of Lowe
OSM oncostatin M
PACS1 phosphofurin acidic cluster sorting protein 1
PALB2 partner and localizer of BRCA2
PAX8 paired box 8
PCSK5 proprotein convertase subtilisin/kexin type 5
PHGDH phosphoglycerate dehydrogenase
PIGP phosphatidylinositol glycan anchor biosynthesis, class P
PIGQ phosphatidylinositol glycan anchor biosynthesis, class Q
PIGS phosphatidylinositol glycan anchor biosynthesis, class S
PLA2G15 phospholipase A2, group XV
PLAGL1 pleiomorphic adenoma gene-like 1
PNKP polynucleotide kinase 3'-phosphatase
PORCN porcupine homolog (Drosophila)
POU1F1 POU class 1 homeobox 1
PPP2CA protein phosphatase 2, catalytic subunit, alpha isozyme
PROP1 PROP paired-like homeobox 1
PTCH1 patched 1
RAB23 RAB23, member RAS oncogene family
RAC1 ras-related C3 botulinum toxin substrate 1 (rho family, small GTP binding protein Rac1)
RAD51 RAD51 recombinase
RAD51C RAD51 paralog C
RFC2 replication factor C (activator 1) 2, 40kDa
RFWD3 ring finger and WD repeat domain 3
RIN2 Ras and Rab interactor 2
RIPPLY2 ripply transcriptional repressor 2
RNF113A ring finger protein 113A
ROR2 receptor tyrosine kinase-like orphan receptor 2
RREB1 ras responsive element binding protein 1
SALL1 spalt-like transcription factor 1
SCN2A sodium channel, voltage gated, type II alpha subunit
SEC24C SEC24 family member C
SEMA3E sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E
SETBP1 SET binding protein 1
SH3PXD2B SH3 and PX domains 2B
SHANK3 SH3 and multiple ankyrin repeat domains 3
SIK1 salt-inducible kinase 1
SKI SKI proto-oncogene
SLC25A22 solute carrier family 25 (mitochondrial carrier: glutamate), member 22
SLC25A24 solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 24
SLC26A2 solute carrier family 26 (anion exchanger), member 2
SLC2A10 solute carrier family 2 (facilitated glucose transporter), member 10
SLC32A1 solute carrier family 32 (GABA vesicular transporter), member 1
SLC5A5 solute carrier family 5 (sodium/iodide cotransporter), member 5
SLC6A5 solute carrier family 6 (neurotransmitter transporter), member 5
SLX4 SLX4 structure-specific endonuclease subunit
SMAD3 SMAD family member 3
SNIP1 Smad nuclear interacting protein 1
SPECC1L sperm antigen with calponin homology and coiled-coil domains 1-like
STXBP1 syntaxin binding protein 1
TBL2 transducin (beta)-like 2
TBX1 T-box 1
TG thyroglobulin
TGDS TDP-glucose 4,6-dehydratase
TGM1 transglutaminase 1
THRA thyroid hormone receptor, alpha
THRB thyroid hormone receptor, beta
TMEM70 transmembrane protein 70
TP63 tumor protein p63
TPO thyroid peroxidase
TRAF7 TNF receptor-associated factor 7, E3 ubiquitin protein ligase
TRHR thyrotropin-releasing hormone receptor
TRIM8 tripartite motif containing 8
TRIP11 thyroid hormone receptor interactor 11
TRRAP transformation/transcription domain-associated protein
TSHB thyroid stimulating hormone, beta
TSHR thyroid stimulating hormone receptor
TUBB tubulin, beta class I
TWIST2 twist family bHLH transcription factor 2
UBE2T ubiquitin-conjugating enzyme E2T
UFD1 ubiquitin recognition factor in ER associated degradation 1
WNT5A wingless-type MMTV integration site family, member 5A
XRCC2 X-ray repair complementing defective repair in Chinese hamster cells 2
ZBTB24 zinc finger and BTB domain containing 24