arnold-chiari malformation Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Arnold-Chiari malformation consists of a downward displacement of the cerebellar tonsils and the medulla through the foramen magnum, sometimes causing hydrocephalus as a result of obstruction of CSF outflow. (Human Phenotype Ontology, HP_0002308)
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30 genes associated with the arnold-chiari malformation phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
BAZ1B bromodomain adjacent to zinc finger domain, 1B
CLIP2 CAP-GLY domain containing linker protein 2
ELN elastin
ERF Ets2 repressor factor
FBN1 fibrillin 1
FGFR1 fibroblast growth factor receptor 1
FGFR2 fibroblast growth factor receptor 2
FGFR3 fibroblast growth factor receptor 3
FUZ fuzzy planar cell polarity protein
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
LEMD3 LEM domain containing 3
LIMK1 LIM domain kinase 1
MKS1 Meckel syndrome, type 1
NOTCH2 notch 2
PAX2 paired box 2
PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
POR P450 (cytochrome) oxidoreductase
PORCN porcupine homolog (Drosophila)
RFC2 replication factor C (activator 1) 2, 40kDa
SALL1 spalt-like transcription factor 1
SC5D sterol-C5-desaturase
SKI SKI proto-oncogene
TBL2 transducin (beta)-like 2
TGFBR1 transforming growth factor, beta receptor 1
TGFBR2 transforming growth factor, beta receptor II (70/80kDa)
VANGL1 VANGL planar cell polarity protein 1