abnormality of the umbilicus Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Abnormality of the umbilicus. (Human Phenotype Ontology, HP_0001551)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0001551
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Genes

153 genes associated with the abnormality of the umbilicus 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
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
ANTXR1 anthrax toxin receptor 1
ARSB arylsulfatase B
ARVCF armadillo repeat gene deleted in velocardiofacial syndrome
ATP7A ATPase, Cu++ transporting, alpha polypeptide
ATRX alpha thalassemia/mental retardation syndrome X-linked
B3GALTL beta 1,3-galactosyltransferase-like
BAZ1B bromodomain adjacent to zinc finger domain, 1B
BMP1 bone morphogenetic protein 1
BRCA2 breast cancer 2, early onset
BRIP1 BRCA1 interacting protein C-terminal helicase 1
BSCL2 Berardinelli-Seip congenital lipodystrophy 2 (seipin)
CCBE1 collagen and calcium binding EGF domains 1
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
CLDN19 claudin 19
CLIP2 CAP-GLY domain containing linker protein 2
CNTN4 contactin 4
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
COMT catechol-O-methyltransferase
CRBN cereblon
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
EFNB1 ephrin-B1
EHMT1 euchromatic histone-lysine N-methyltransferase 1
ELN elastin
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
FGFR2 fibroblast growth factor receptor 2
FGFR3 fibroblast growth factor receptor 3
FKBP14 FK506 binding protein 14, 22 kDa
FRAS1 Fraser extracellular matrix complex subunit 1
FREM2 FRAS1 related extracellular matrix protein 2
FTO fat mass and obesity associated
GATA6 GATA binding protein 6
GJA1 gap junction protein, alpha 1, 43kDa
GLI3 GLI family zinc finger 3
GLRA1 glycine receptor, alpha 1
GLRB glycine receptor, beta
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
GTF2I general transcription factor IIi
GTF2IRD1 GTF2I repeat domain containing 1
GUSB glucuronidase, beta
HDAC4 histone deacetylase 4
HDAC8 histone deacetylase 8
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-
IKBKG inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma
INSR insulin receptor
IYD iodotyrosine deiodinase
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
LIMK1 LIM domain kinase 1
LRP2 low density lipoprotein receptor-related protein 2
LTBP4 latent transforming growth factor beta binding protein 4
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
MPST mercaptopyruvate sulfurtransferase
NFIX nuclear factor I/X (CCAAT-binding transcription factor)
NIPBL Nipped-B homolog (Drosophila)
NOTCH1 notch 1
NOTCH2 notch 2
NSDHL NAD(P) dependent steroid dehydrogenase-like
OCRL oculocerebrorenal syndrome of Lowe
PALB2 partner and localizer of BRCA2
PAX8 paired box 8
PORCN porcupine homolog (Drosophila)
POU1F1 POU class 1 homeobox 1
PRDM5 PR domain containing 5
PROP1 PROP paired-like homeobox 1
PTCH1 patched 1
PTRF polymerase I and transcript release factor
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
SALL1 spalt-like transcription factor 1
SEMA3E sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E
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
SRCAP Snf2-related CREBBP activator protein
SULF1 sulfatase 1
TBL2 transducin (beta)-like 2
TBX1 T-box 1
TG thyroglobulin
TGFBR2 transforming growth factor, beta receptor II (70/80kDa)
THRA thyroid hormone receptor, alpha
THRB thyroid hormone receptor, beta
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
UFD1L ubiquitin fusion degradation 1 like (yeast)
WNT5A wingless-type MMTV integration site family, member 5A
ZBTB24 zinc finger and BTB domain containing 24