malformation Gene Set

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

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

Symbol Name
ABCA12 ATP-binding cassette, sub-family A (ABC1), member 12
ACVR1 activin A receptor, type I
AKT3 v-akt murine thymoma viral oncogene homolog 3
AQP4 aquaporin 4
AR androgen receptor
BDNF brain-derived neurotrophic factor
BTRC beta-transducin repeat containing E3 ubiquitin protein ligase
CASK calcium/calmodulin-dependent serine protein kinase (MAGUK family)
CCM2 cerebral cavernous malformation 2
CDH1 cadherin 1, type 1, E-cadherin (epithelial)
CFC1 cripto, FRL-1, cryptic family 1
CHRM3 cholinergic receptor, muscarinic 3
CKAP4 cytoskeleton-associated protein 4
COL1A1 collagen, type I, alpha 1
COL3A1 collagen, type III, alpha 1
CREB1 cAMP responsive element binding protein 1
CST3 cystatin C
DLX5 distal-less homeobox 5
DYNC1I1 dynein, cytoplasmic 1, intermediate chain 1
EGFR epidermal growth factor receptor
EML4 echinoderm microtubule associated protein like 4
ENG endoglin
EP300 E1A binding protein p300
FABP7 fatty acid binding protein 7, brain
FANCB Fanconi anemia, complementation group B
FBN1 fibrillin 1
FBXW4 F-box and WD repeat domain containing 4
FHL1 four and a half LIM domains 1
FIG4 FIG4 phosphoinositide 5-phosphatase
FOXC1 forkhead box C1
FOXI1 forkhead box I1
GATA4 GATA binding protein 4
GJB2 gap junction protein, beta 2, 26kDa
GLI3 GLI family zinc finger 3
GLMN glomulin, FKBP associated protein
GSC goosecoid homeobox
GSTP1 glutathione S-transferase pi 1
HEG1 heart development protein with EGF-like domains 1
HNF1B HNF1 homeobox B
HOXD13 homeobox D13
HSPG2 heparan sulfate proteoglycan 2
IHH indian hedgehog
IL17A interleukin 17A
IL1B interleukin 1, beta
IL6 interleukin 6
ITGA2 integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)
ITGA3 integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor)
ITGB1 integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12)
KCNH2 potassium channel, voltage gated eag related subfamily H, member 2
KCNJ10 potassium channel, inwardly rectifying subfamily J, member 10
KRAS Kirsten rat sarcoma viral oncogene homolog
KRIT1 KRIT1, ankyrin repeat containing
LHX1 LIM homeobox 1
LTBP2 latent transforming growth factor beta binding protein 2
MASP1 mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)
MKI67 marker of proliferation Ki-67
MMP3 matrix metallopeptidase 3
MMP9 matrix metallopeptidase 9
MTHFR methylenetetrahydrofolate reductase (NAD(P)H)
MTR 5-methyltetrahydrofolate-homocysteine methyltransferase
MTRR 5-methyltetrahydrofolate-homocysteine methyltransferase reductase
NFIA nuclear factor I/A
NGB neuroglobin
NOS2 nitric oxide synthase 2, inducible
OFD1 oral-facial-digital syndrome 1
OTX2 orthodenticle homeobox 2
PAFAH1B1 platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)
PAX2 paired box 2
PAX6 paired box 6
PDCD10 programmed cell death 10
PDGFA platelet-derived growth factor alpha polypeptide
PDGFB platelet-derived growth factor beta polypeptide
PDGFRB platelet-derived growth factor receptor, beta polypeptide
PIGP phosphatidylinositol glycan anchor biosynthesis, class P
PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
PIK3R2 phosphoinositide-3-kinase, regulatory subunit 2 (beta)
RASA1 RAS p21 protein activator (GTPase activating protein) 1
RELN reelin
RUNX1 runt-related transcription factor 1
SALL1 spalt-like transcription factor 1
SALL4 spalt-like transcription factor 4
SHC1 SHC (Src homology 2 domain containing) transforming protein 1
SIX3 SIX homeobox 3
SLC26A4 solute carrier family 26 (anion exchanger), member 4
SLC2A1 solute carrier family 2 (facilitated glucose transporter), member 1
SMAD6 SMAD family member 6
SOX2 SRY (sex determining region Y)-box 2
STAMBP STAM binding protein
STAT1 signal transducer and activator of transcription 1, 91kDa
STAT3 signal transducer and activator of transcription 3 (acute-phase response factor)
STK26 serine/threonine protein kinase 26
SUFU suppressor of fused homolog (Drosophila)
TBC1D24 TBC1 domain family, member 24
TBX6 T-box 6
TEK TEK tyrosine kinase, endothelial
TFAP2A transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)
TGFBR2 transforming growth factor, beta receptor II (70/80kDa)
TGIF1 TGFB-induced factor homeobox 1
THBS1 thrombospondin 1
TP53 tumor protein p53
TP63 tumor protein p63
TUBA1A tubulin, alpha 1a
TUBB2B tubulin, beta 2B class IIb
TUBB3 tubulin, beta 3 class III
VEGFA vascular endothelial growth factor A
VIM vimentin
VPS13B vacuolar protein sorting 13 homolog B (yeast)
VSX2 visual system homeobox 2
WNT10B wingless-type MMTV integration site family, member 10B
WNT5A wingless-type MMTV integration site family, member 5A
WT1 Wilms tumor 1
ZEB2 zinc finger E-box binding homeobox 2
ZIC1 Zic family member 1
ZIC2 Zic family member 2
ZIC4 Zic family member 4
ZIC5 Zic family member 5
ZPLD1 zona pellucida-like domain containing 1