malformations Gene Set

Dataset GeneRIF Biological Term Annotations
Category structural or functional annotations
Type biological term
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Genes

167 genes co-occuring with the biological term malformations in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.

Symbol Name
ACE angiotensin I converting enzyme
ACTA2 actin, alpha 2, smooth muscle, aorta
ACTB actin, beta
ACVRL1 activin A receptor type II-like 1
ADAMTSL4 ADAMTS-like 4
ADRB1 adrenoceptor beta 1
ALPL alkaline phosphatase, liver/bone/kidney
AMN amnion associated transmembrane protein
ANG angiogenin, ribonuclease, RNase A family, 5
ANGPTL4 angiopoietin-like 4
APOE apolipoprotein E
ARX aristaless related homeobox
ASPM asp (abnormal spindle) homolog, microcephaly associated (Drosophila)
ATP1B2 ATPase, Na+/K+ transporting, beta 2 polypeptide
B3GALNT2 beta-1,3-N-acetylgalactosaminyltransferase 2
B3GAT3 beta-1,3-glucuronyltransferase 3
BMP4 bone morphogenetic protein 4
C1QBP complement component 1, q subcomponent binding protein
CASK calcium/calmodulin-dependent serine protein kinase (MAGUK family)
CCM2 cerebral cavernous malformation 2
CDKN1C cyclin-dependent kinase inhibitor 1C (p57, Kip2)
CDX1 caudal type homeobox 1
CELSR1 cadherin, EGF LAG seven-pass G-type receptor 1
CGB chorionic gonadotropin, beta polypeptide
CHD7 chromodomain helicase DNA binding protein 7
CHUK conserved helix-loop-helix ubiquitous kinase
CRTC1 CREB regulated transcription coactivator 1
CUBN cubilin (intrinsic factor-cobalamin receptor)
DKK4 dickkopf WNT signaling pathway inhibitor 4
DLG3 discs, large homolog 3 (Drosophila)
DYNLL1 dynein, light chain, LC8-type 1
EDNRB endothelin receptor type B
EFNB2 ephrin-B2
ENG endoglin
EPHB2 EPH receptor B2
EPHB4 EPH receptor B4
ERBB2 erb-b2 receptor tyrosine kinase 2
FAM58A family with sequence similarity 58, member A
FGD1 FYVE, RhoGEF and PH domain containing 1
FGF10 fibroblast growth factor 10
FGF2 fibroblast growth factor 2 (basic)
FGFR1 fibroblast growth factor receptor 1
FGFR2 fibroblast growth factor receptor 2
FGFRL1 fibroblast growth factor receptor-like 1
FLNA filamin A, alpha
FLT4 fms-related tyrosine kinase 4
FOXC1 forkhead box C1
FOXF1 forkhead box F1
G6PC3 glucose 6 phosphatase, catalytic, 3
GDF5 growth differentiation factor 5
GFRA1 GDNF family receptor alpha 1
GLI2 GLI family zinc finger 2
GLI3 GLI family zinc finger 3
GLMN glomulin, FKBP associated protein
GNAI3 guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 3
GPC5 glypican 5
GPSM2 G-protein signaling modulator 2
GSTM1 glutathione S-transferase mu 1
GSTP1 glutathione S-transferase pi 1
HEG1 heart development protein with EGF-like domains 1
HMX2 H6 family homeobox 2
HMX3 H6 family homeobox 3
HNF1A HNF1 homeobox A
HNF1B HNF1 homeobox B
HOXA1 homeobox A1
HOXA11 homeobox A11
HOXA13 homeobox A13
HOXD10 homeobox D10
HOXD11 homeobox D11
HOXD13 homeobox D13
IL1A interleukin 1, alpha
IL1B interleukin 1, beta
IL1RN interleukin 1 receptor antagonist
ITGAV integrin, alpha V
ITGB1 integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12)
ITGB3 integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)
ITGB5 integrin, beta 5
ITGB8 integrin, beta 8
KATNB1 katanin p80 (WD repeat containing) subunit B 1
KRAS Kirsten rat sarcoma viral oncogene homolog
KRIT1 KRIT1, ankyrin repeat containing
KRT20 keratin 20, type I
LAMC3 laminin, gamma 3
LHX3 LIM homeobox 3
LMBR1 limb development membrane protein 1
LPPR4 lipid phosphate phosphatase-related protein type 4
LRP2 low density lipoprotein receptor-related protein 2
MAB21L2 mab-21-like 2 (C. elegans)
MCTP2 multiple C2 domains, transmembrane 2
MECP2 methyl CpG binding protein 2
MEF2C myocyte enhancer factor 2C
MGP matrix Gla protein
MIF macrophage migration inhibitory factor (glycosylation-inhibiting factor)
MIR191 microRNA 191
MIR210 microRNA 210
MTG2 mitochondrial ribosome-associated GTPase 2
MTHFR methylenetetrahydrofolate reductase (NAD(P)H)
MTOR mechanistic target of rapamycin (serine/threonine kinase)
MUC5AC mucin 5AC, oligomeric mucus/gel-forming
MYH6 myosin, heavy chain 6, cardiac muscle, alpha
NES nestin
NF2 neurofibromin 2 (merlin)
NKX2-5 NK2 homeobox 5
NODAL nodal growth differentiation factor
NOTCH1 notch 1
NOTCH4 notch 4
NPHP3 nephronophthisis 3 (adolescent)
NPPB natriuretic peptide B
NRP2 neuropilin 2
NUPR1 nuclear protein, transcriptional regulator, 1
OCLN occludin
OTX2 orthodenticle homeobox 2
PAFAH1B1 platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)
PAX2 paired box 2
PAX6 paired box 6
PAX8 paired box 8
PDCD10 programmed cell death 10
PIGV phosphatidylinositol glycan anchor biosynthesis, class V
PITX1 paired-like homeodomain 1
PITX2 paired-like homeodomain 2
PITX3 paired-like homeodomain 3
PLCB4 phospholipase C, beta 4
POR P450 (cytochrome) oxidoreductase
PRNP prion protein
PTGS2 prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)
RASA1 RAS p21 protein activator (GTPase activating protein) 1
RET ret proto-oncogene
RHOA ras homolog family member A
RIPK3 receptor-interacting serine-threonine kinase 3
ROBO3 roundabout, axon guidance receptor, homolog 3 (Drosophila)
SCN1A sodium channel, voltage gated, type I alpha subunit
SERPINB2 serpin peptidase inhibitor, clade B (ovalbumin), member 2
SHH sonic hedgehog
SIX6 SIX homeobox 6
SLC2A1 solute carrier family 2 (facilitated glucose transporter), member 1
SLC35A3 solute carrier family 35 (UDP-N-acetylglucosamine (UDP-GlcNAc) transporter), member A3
SMURF1 SMAD specific E3 ubiquitin protein ligase 1
SNAI2 snail family zinc finger 2
SNX8 sorting nexin 8
SOX2 SRY (sex determining region Y)-box 2
SPRY2 sprouty homolog 2 (Drosophila)
SRD5A3 steroid 5 alpha-reductase 3
STRA6 stimulated by retinoic acid 6
SUCLG1 succinate-CoA ligase, alpha subunit
SV2A synaptic vesicle glycoprotein 2A
T T, brachyury homolog (mouse)
TBX1 T-box 1
TBX2 T-box 2
TBX3 T-box 3
TBX5 T-box 5
TEK TEK tyrosine kinase, endothelial
TGFB1 transforming growth factor, beta 1
TNF tumor necrosis factor
TP53 tumor protein p53
TP63 tumor protein p63
TRIM11 tripartite motif containing 11
TRPV1 transient receptor potential cation channel, subfamily V, member 1
TUBA1A tubulin, alpha 1a
TUBB2B tubulin, beta 2B class IIb
UPK2 uroplakin 2
VANGL2 VANGL planar cell polarity protein 2
VEGFA vascular endothelial growth factor A
WDR62 WD repeat domain 62
WNT10B wingless-type MMTV integration site family, member 10B
WT1 Wilms tumor 1
ZIC2 Zic family member 2
ZIC3 Zic family member 3