anomalies Gene Set

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

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

Symbol Name
ACTA2 actin, alpha 2, smooth muscle, aorta
ACTC1 actin, alpha, cardiac muscle 1
ACVR2B activin A receptor, type IIB
ADAM12 ADAM metallopeptidase domain 12
ADAR adenosine deaminase, RNA-specific
AGTR2 angiotensin II receptor, type 2
AHSG alpha-2-HS-glycoprotein
ALDH2 aldehyde dehydrogenase 2 family (mitochondrial)
ALX3 ALX homeobox 3
ALX4 ALX homeobox 4
APOE apolipoprotein E
ATM ATM serine/threonine kinase
ATP6V1E1 ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E1
BMP4 bone morphogenetic protein 4
BMP6 bone morphogenetic protein 6
BMP7 bone morphogenetic protein 7
CDKN2A cyclin-dependent kinase inhibitor 2A
CECR2 cat eye syndrome chromosome region, candidate 2
CFAP53 cilia and flagella associated protein 53
CHD1L chromodomain helicase DNA binding protein 1-like
CHD7 chromodomain helicase DNA binding protein 7
CHN1 chimerin 1
CNTNAP2 contactin associated protein-like 2
COL12A1 collagen, type XII, alpha 1
COL4A1 collagen, type IV, alpha 1
CYP26B1 cytochrome P450, family 26, subfamily B, polypeptide 1
DDX58 DEAD (Asp-Glu-Ala-Asp) box polypeptide 58
DNMT3B DNA (cytosine-5-)-methyltransferase 3 beta
DUSP5 dual specificity phosphatase 5
EPHX1 epoxide hydrolase 1, microsomal (xenobiotic)
EYA1 EYA transcriptional coactivator and phosphatase 1
FAM20A family with sequence similarity 20, member A
FAM20C family with sequence similarity 20, member C
FGA fibrinogen alpha chain
FGF23 fibroblast growth factor 23
FGF3 fibroblast growth factor 3
FGFR2 fibroblast growth factor receptor 2
FGFR3 fibroblast growth factor receptor 3
FGG fibrinogen gamma chain
FLNA filamin A, alpha
FNBP4 formin binding protein 4
FOXC2 forkhead box C2
FOXE3 forkhead box E3
FOXN3 forkhead box N3
FRAS1 Fraser extracellular matrix complex subunit 1
FREM1 FRAS1 related extracellular matrix 1
GABRB3 gamma-aminobutyric acid (GABA) A receptor, beta 3
GATA2 GATA binding protein 2
GATA4 GATA binding protein 4
GDF3 growth differentiation factor 3
GJA5 gap junction protein, alpha 5, 40kDa
GJB2 gap junction protein, beta 2, 26kDa
GLI2 GLI family zinc finger 2
GPC5 glypican 5
GRIN2B glutamate receptor, ionotropic, N-methyl D-aspartate 2B
H19 H19, imprinted maternally expressed transcript (non-protein coding)
HNF1B HNF1 homeobox B
HOXA10 homeobox A10
HOXA11 homeobox A11
HOXD13 homeobox D13
HRAS Harvey rat sarcoma viral oncogene homolog
HSPA2 heat shock 70kDa protein 2
INSL3 insulin-like 3 (Leydig cell)
ISPD isoprenoid synthase domain containing
KRIT1 KRIT1, ankyrin repeat containing
LAMB2 laminin, beta 2 (laminin S)
LPP LIM domain containing preferred translocation partner in lipoma
MET MET proto-oncogene, receptor tyrosine kinase
MIF macrophage migration inhibitory factor (glycosylation-inhibiting factor)
MMP1 matrix metallopeptidase 1
MMP20 matrix metallopeptidase 20
MMP3 matrix metallopeptidase 3
MSX1 msh homeobox 1
MTHFR methylenetetrahydrofolate reductase (NAD(P)H)
MTR 5-methyltetrahydrofolate-homocysteine methyltransferase
MYH7 myosin, heavy chain 7, cardiac muscle, beta
NFATC2 nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2
NHEJ1 nonhomologous end-joining factor 1
NKX2-1 NK2 homeobox 1
NOG noggin
NOTCH1 notch 1
NPHP3 nephronophthisis 3 (adolescent)
OPHN1 oligophrenin 1
PALM2-AKAP2 PALM2-AKAP2 readthrough
PAX2 paired box 2
PAX6 paired box 6
PAX9 paired box 9
PHOX2B paired-like homeobox 2b
PITX2 paired-like homeodomain 2
PKD2 polycystic kidney disease 2 (autosomal dominant)
POMT1 protein-O-mannosyltransferase 1
POR P450 (cytochrome) oxidoreductase
POU3F4 POU class 3 homeobox 4
PTEN phosphatase and tensin homolog
PTGS1 prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase)
PTPN11 protein tyrosine phosphatase, non-receptor type 11
RB1 retinoblastoma 1
RNU4ATAC RNA, U4atac small nuclear (U12-dependent splicing)
ROBO2 roundabout, axon guidance receptor, homolog 2 (Drosophila)
RTN4R reticulon 4 receptor
SALL4 spalt-like transcription factor 4
SGCE sarcoglycan, epsilon
SHH sonic hedgehog
SHOX short stature homeobox
SIX2 SIX homeobox 2
SLC25A18 solute carrier family 25 (glutamate carrier), member 18
SLC26A4 solute carrier family 26 (anion exchanger), member 4
SLC34A1 solute carrier family 34 (type II sodium/phosphate cotransporter), member 1
SOX17 SRY (sex determining region Y)-box 17
SOX2 SRY (sex determining region Y)-box 2
SOX5 SRY (sex determining region Y)-box 5
SPRY2 sprouty homolog 2 (Drosophila)
SRY sex determining region Y
STAG2 stromal antigen 2
STOX1 storkhead box 1
STRA6 stimulated by retinoic acid 6
TEK TEK tyrosine kinase, endothelial
TFAP2A transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)
TGIF1 TGFB-induced factor homeobox 1
TMEM5 transmembrane protein 5
TNNI3 troponin I type 3 (cardiac)
TNNT2 troponin T type 2 (cardiac)
TP63 tumor protein p63
TSPYL1 TSPY-like 1
TXNDC2 thioredoxin domain containing 2 (spermatozoa)
UMOD uromodulin
WDR19 WD repeat domain 19
WT1 Wilms tumor 1
XIAP X-linked inhibitor of apoptosis, E3 ubiquitin protein ligase
ZBTB24 zinc finger and BTB domain containing 24
ZEB2 zinc finger E-box binding homeobox 2
ZIC2 Zic family member 2
ZIC3 Zic family member 3