Arnold Chiari Malformation Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
External Link https://www.disgenet.org/browser/0/1/0/C0750929
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Genes

82 genes associated with the disease Arnold Chiari Malformation in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
AKT1 v-akt murine thymoma viral oncogene homolog 1
ALDH1A2 aldehyde dehydrogenase 1 family, member A2
AQP1 aquaporin 1 (Colton blood group)
BAZ1B bromodomain adjacent to zinc finger domain, 1B
BMPR1A bone morphogenetic protein receptor, type IA
CD48 CD48 molecule
CDC45 cell division cycle 45
CDX1 caudal type homeobox 1
CHD4 chromodomain helicase DNA binding protein 4
CLIP2 CAP-GLY domain containing linker protein 2
CNTNAP2 contactin associated protein-like 2
CREBBP CREB binding protein
CSF2 colony stimulating factor 2 (granulocyte-macrophage)
DACT1 dishevelled-binding antagonist of beta-catenin 1
DKK1 dickkopf WNT signaling pathway inhibitor 1
DNMT3A DNA (cytosine-5-)-methyltransferase 3 alpha
ELN elastin
ERF Ets2 repressor factor
FANCI Fanconi anemia, complementation group I
FBN1 fibrillin 1
FGF8 fibroblast growth factor 8 (androgen-induced)
FGFR1 fibroblast growth factor receptor 1
FGFR2 fibroblast growth factor receptor 2
FGFR3 fibroblast growth factor receptor 3
FLNA filamin A, alpha
FUZ fuzzy planar cell polarity protein
GDF3 growth differentiation factor 3
GDF6 growth differentiation factor 6
GH1 growth hormone 1
GNAQ guanine nucleotide binding protein (G protein), q polypeptide
GTF2I general transcription factor IIi
GTF2IRD1 GTF2I repeat domain containing 1
HMGA2 high mobility group AT-hook 2
HRAS Harvey rat sarcoma viral oncogene homolog
KIAA0195 KIAA0195
KMT2C lysine (K)-specific methyltransferase 2C
LAMC2 laminin, gamma 2
LEMD3 LEM domain containing 3
LHX3 LIM homeobox 3
LIMK1 LIM domain kinase 1
LRP5 low density lipoprotein receptor-related protein 5
MECP2 methyl CpG binding protein 2
MIPEP mitochondrial intermediate peptidase
MKS1 Meckel syndrome, type 1
NFIA nuclear factor I/A
NONO non-POU domain containing, octamer-binding
NOTCH2 notch 2
NOTCH3 notch 3
NSD1 nuclear receptor binding SET domain protein 1
PAX2 paired box 2
PHEX phosphate regulating endopeptidase homolog, X-linked
PHOX2B paired-like homeobox 2b
PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
PIK3CB phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta
PIK3CD phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta
PIK3CG phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma
POLR3A polymerase (RNA) III (DNA directed) polypeptide A, 155kDa
POR P450 (cytochrome) oxidoreductase
PORCN porcupine homolog (Drosophila)
PPP1CB protein phosphatase 1, catalytic subunit, beta isozyme
PPP1R2P9 protein phosphatase 1, regulatory (inhibitor) subunit 2 pseudogene 9
PRKAR1A protein kinase, cAMP-dependent, regulatory, type I, alpha
PTCH1 patched 1
PTEN phosphatase and tensin homolog
RFC2 replication factor C (activator 1) 2, 40kDa
RFWD3 ring finger and WD repeat domain 3
SALL1 spalt-like transcription factor 1
SC5D sterol-C5-desaturase
SETBP1 SET binding protein 1
SETD2 SET domain containing 2
SIK3 SIK family kinase 3
SKI SKI proto-oncogene
SON SON DNA binding protein
TBL1XR1 transducin (beta)-like 1 X-linked receptor 1
TBL2 transducin (beta)-like 2
UCN2 urocortin 2
UNC50 unc-50 homolog (C. elegans)
UTS2B urotensin 2B
VANGL1 VANGL planar cell polarity protein 1
XYLT1 xylosyltransferase I
ZIC1 Zic family member 1
ZRSR2 zinc finger (CCCH type), RNA-binding motif and serine/arginine rich 2