abdominal wall defect Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description An incomplete closure of the abdominal wall. (Human Phenotype Ontology, HP_0010866)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0010866
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Genes

256 genes associated with the abdominal wall defect phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ABCC9 ATP-binding cassette, sub-family C (CFTR/MRP), member 9
ABCD4 ATP-binding cassette, sub-family D (ALD), member 4
ACTG2 actin, gamma 2, smooth muscle, enteric
ADAMTS2 ADAM metallopeptidase with thrombospondin type 1 motif, 2
AGA aspartylglucosaminidase
AGPAT2 1-acylglycerol-3-phosphate O-acyltransferase 2
ALDH18A1 aldehyde dehydrogenase 18 family, member A1
AMER1 APC membrane recruitment protein 1
AMH anti-Mullerian hormone
AMHR2 anti-Mullerian hormone receptor, type II
ANTXR1 anthrax toxin receptor 1
AP1S2 adaptor-related protein complex 1, sigma 2 subunit
AR androgen receptor
ARSB arylsulfatase B
ARVCF armadillo repeat gene deleted in velocardiofacial syndrome
ARX aristaless related homeobox
ASXL1 additional sex combs like transcriptional regulator 1
ATP10A ATPase, class V, type 10A
ATP6V0A2 ATPase, H+ transporting, lysosomal V0 subunit a2
ATP7A ATPase, Cu++ transporting, alpha polypeptide
ATRX alpha thalassemia/mental retardation syndrome X-linked
B3GALTL beta 1,3-galactosyltransferase-like
B3GAT3 beta-1,3-glucuronyltransferase 3
BAZ1B bromodomain adjacent to zinc finger domain, 1B
BCR breakpoint cluster region
BDNF brain-derived neurotrophic factor
BHLHA9 basic helix-loop-helix family, member a9
BMP1 bone morphogenetic protein 1
BMPER BMP binding endothelial regulator
BRCA2 breast cancer 2, early onset
BRIP1 BRCA1 interacting protein C-terminal helicase 1
BSCL2 Berardinelli-Seip congenital lipodystrophy 2 (seipin)
C5ORF42 chromosome 5 open reading frame 42
CBS cystathionine-beta-synthase
CC2D2A coiled-coil and C2 domain containing 2A
CCBE1 collagen and calcium binding EGF domains 1
CCDC22 coiled-coil domain containing 22
CD96 CD96 molecule
CDKN1C cyclin-dependent kinase inhibitor 1C (p57, Kip2)
CHD7 chromodomain helicase DNA binding protein 7
CHL1 cell adhesion molecule L1-like
CHRNG cholinergic receptor, nicotinic, gamma (muscle)
CHST14 carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14
CHUK conserved helix-loop-helix ubiquitous kinase
CLDN19 claudin 19
CLIP2 CAP-GLY domain containing linker protein 2
CNTN4 contactin 4
COL11A1 collagen, type XI, alpha 1
COL11A2 collagen, type XI, alpha 2
COL1A1 collagen, type I, alpha 1
COL1A2 collagen, type I, alpha 2
COL2A1 collagen, type II, alpha 1
COL3A1 collagen, type III, alpha 1
COL5A1 collagen, type V, alpha 1
COL5A2 collagen, type V, alpha 2
COMT catechol-O-methyltransferase
CRBN cereblon
CRKL v-crk avian sarcoma virus CT10 oncogene homolog-like
CTNND2 catenin (cadherin-associated protein), delta 2
CUL4B cullin 4B
CYFIP1 cytoplasmic FMR1 interacting protein 1
DACT1 dishevelled-binding antagonist of beta-catenin 1
DIS3L2 DIS3 like 3'-5' exoribonuclease 2
DLL3 delta-like 3 (Drosophila)
DMPK dystrophia myotonica-protein kinase
DNMT3A DNA (cytosine-5-)-methyltransferase 3 alpha
DNMT3B DNA (cytosine-5-)-methyltransferase 3 beta
DSE dermatan sulfate epimerase
DUOX2 dual oxidase 2
DUOXA2 dual oxidase maturation factor 2
DYNC2H1 dynein, cytoplasmic 2, heavy chain 1
EFEMP2 EGF containing fibulin-like extracellular matrix protein 2
EFNB1 ephrin-B1
EHMT1 euchromatic histone-lysine N-methyltransferase 1
ELN elastin
ELOVL4 ELOVL fatty acid elongase 4
EOGT EGF domain-specific O-linked N-acetylglucosamine (GlcNAc) transferase
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
FGFR1 fibroblast growth factor receptor 1
FGFR2 fibroblast growth factor receptor 2
FGFR3 fibroblast growth factor receptor 3
FKBP14 FK506 binding protein 14, 22 kDa
FLNA filamin A, alpha
FLNB filamin B, beta
FRAS1 Fraser extracellular matrix complex subunit 1
FREM1 FRAS1 related extracellular matrix 1
FREM2 FRAS1 related extracellular matrix protein 2
FTO fat mass and obesity associated
GALNS galactosamine (N-acetyl)-6-sulfatase
GATA6 GATA binding protein 6
GJA1 gap junction protein, alpha 1, 43kDa
GLB1 galactosidase, beta 1
GLI3 GLI family zinc finger 3
GLRA1 glycine receptor, alpha 1
GLRB glycine receptor, beta
GNE glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase
GNPTAB N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits
GNPTG N-acetylglucosamine-1-phosphate transferase, gamma subunit
GP1BB glycoprotein Ib (platelet), beta polypeptide
GPC3 glypican 3
GPC4 glypican 4
GPC6 glypican 6
GPHN gephyrin
GRIP1 glutamate receptor interacting protein 1
GTF2I general transcription factor IIi
GTF2IRD1 GTF2I repeat domain containing 1
GUSB glucuronidase, beta
H19 H19, imprinted maternally expressed transcript (non-protein coding)
HDAC4 histone deacetylase 4
HDAC8 histone deacetylase 8
HES7 hes family bHLH transcription factor 7
HESX1 HESX homeobox 1
HIC1 hypermethylated in cancer 1
HIRA histone cell cycle regulator
HOXD13 homeobox D13
HSPG2 heparan sulfate proteoglycan 2
HYLS1 hydrolethalus syndrome 1
IDS iduronate 2-sulfatase
IDUA iduronidase, alpha-L-
IFT80 intraflagellar transport 80
IGF2 insulin-like growth factor 2
IKBKG inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma
INPP5E inositol polyphosphate-5-phosphatase, 72 kDa
INSR insulin receptor
IRX5 iroquois homeobox 5
IYD iodotyrosine deiodinase
KCNJ8 potassium channel, inwardly rectifying subfamily J, member 8
KCNQ1OT1 KCNQ1 opposite strand/antisense transcript 1 (non-protein coding)
KIAA0196 KIAA0196
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
LIMK1 LIM domain kinase 1
LRP2 low density lipoprotein receptor-related protein 2
LTBP4 latent transforming growth factor beta binding protein 4
MAN2B1 mannosidase, alpha, class 2B, member 1
MAPK1 mitogen-activated protein kinase 1
MASP1 mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)
MBTPS2 membrane-bound transcription factor peptidase, site 2
MECP2 methyl CpG binding protein 2
MED12 mediator complex subunit 12
MEGF8 multiple EGF-like-domains 8
MEIS2 Meis homeobox 2
MESP2 mesoderm posterior basic helix-loop-helix transcription factor 2
MKS1 Meckel syndrome, type 1
MPST mercaptopyruvate sulfurtransferase
MYH3 myosin, heavy chain 3, skeletal muscle, embryonic
NAA10 N(alpha)-acetyltransferase 10, NatA catalytic subunit
NEU1 sialidase 1 (lysosomal sialidase)
NFIX nuclear factor I/X (CCAAT-binding transcription factor)
NIPBL Nipped-B homolog (Drosophila)
NLRP3 NLR family, pyrin domain containing 3
NOTCH1 notch 1
NOTCH2 notch 2
NSD1 nuclear receptor binding SET domain protein 1
NSDHL NAD(P) dependent steroid dehydrogenase-like
OCA2 oculocutaneous albinism II
OCRL oculocerebrorenal syndrome of Lowe
OFD1 oral-facial-digital syndrome 1
P3H1 prolyl 3-hydroxylase 1
PAFAH1B1 platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)
PALB2 partner and localizer of BRCA2
PAX6 paired box 6
PAX8 paired box 8
PDE6D phosphodiesterase 6D, cGMP-specific, rod, delta
PIEZO2 piezo-type mechanosensitive ion channel component 2
PIK3R1 phosphoinositide-3-kinase, regulatory subunit 1 (alpha)
PLOD1 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1
PLOD2 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2
PORCN porcupine homolog (Drosophila)
POU1F1 POU class 1 homeobox 1
PRDM5 PR domain containing 5
PROP1 PROP paired-like homeobox 1
PTCH1 patched 1
PTDSS1 phosphatidylserine synthase 1
PYCR1 pyrroline-5-carboxylate reductase 1
RAB23 RAB23, member RAS oncogene family
RAB40AL RAB40A, member RAS oncogene family-like
RAD51C RAD51 paralog C
RFC2 replication factor C (activator 1) 2, 40kDa
RIN2 Ras and Rab interactor 2
ROR2 receptor tyrosine kinase-like orphan receptor 2
RPGRIP1L RPGRIP1-like
RPS6KA3 ribosomal protein S6 kinase, 90kDa, polypeptide 3
SALL1 spalt-like transcription factor 1
SATB2 SATB homeobox 2
SEMA3E sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E
SEMA5A sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A
SERPINH1 serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1)
SETBP1 SET binding protein 1
SF3B4 splicing factor 3b, subunit 4, 49kDa
SH3PXD2B SH3 and PX domains 2B
SHANK3 SH3 and multiple ankyrin repeat domains 3
SKI SKI proto-oncogene
SLC26A2 solute carrier family 26 (anion exchanger), member 2
SLC2A10 solute carrier family 2 (facilitated glucose transporter), member 10
SLC5A5 solute carrier family 5 (sodium/iodide cotransporter), member 5
SLC6A5 solute carrier family 6 (neurotransmitter transporter), member 5
SLCO5A1 solute carrier organic anion transporter family, member 5A1
SLX4 SLX4 structure-specific endonuclease subunit
SMAD3 SMAD family member 3
SMAD4 SMAD family member 4
SNRPN small nuclear ribonucleoprotein polypeptide N
SRCAP Snf2-related CREBBP activator protein
STRA6 stimulated by retinoic acid 6
SULF1 sulfatase 1
TBL2 transducin (beta)-like 2
TBX1 T-box 1
TBX3 T-box 3
TCTN3 tectonic family member 3
TG thyroglobulin
TGFB2 transforming growth factor, beta 2
TGFBR2 transforming growth factor, beta receptor II (70/80kDa)
THRA thyroid hormone receptor, alpha
THRB thyroid hormone receptor, beta
TMCO1 transmembrane and coiled-coil domains 1
TMEM216 transmembrane protein 216
TMEM67 transmembrane protein 67
TMEM70 transmembrane protein 70
TNXB tenascin XB
TP63 tumor protein p63
TPO thyroid peroxidase
TRHR thyrotropin-releasing hormone receptor
TRIP11 thyroid hormone receptor interactor 11
TSHB thyroid stimulating hormone, beta
TSHR thyroid stimulating hormone receptor
TTC7A tetratricopeptide repeat domain 7A
UBA1 ubiquitin-like modifier activating enzyme 1
UBE3A ubiquitin protein ligase E3A
UFD1L ubiquitin fusion degradation 1 like (yeast)
WDR19 WD repeat domain 19
WDR34 WD repeat domain 34
WDR35 WD repeat domain 35
WDR60 WD repeat domain 60
WNT3 wingless-type MMTV integration site family, member 3
WNT5A wingless-type MMTV integration site family, member 5A
WT1 Wilms tumor 1
YWHAE tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon
ZBTB24 zinc finger and BTB domain containing 24
ZEB1 zinc finger E-box binding homeobox 1