Arnold-Chiari Malformation Gene Set

Dataset HuGE Navigator Gene-Phenotype 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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14 genes associated with the Arnold-Chiari Malformation phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

Symbol Name
ALDH1A2 aldehyde dehydrogenase 1 family, member A2
BMPR1A bone morphogenetic protein receptor, type IA
CDX1 caudal type homeobox 1
FGFR1 fibroblast growth factor receptor 1
FLT1 fms-related tyrosine kinase 1
KDR kinase insert domain receptor
LFNG LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase
MSGN1 mesogenin 1
NKD2 naked cuticle homolog 2 (Drosophila)
NOG noggin
RARA retinoic acid receptor, alpha
RARG retinoic acid receptor, gamma
RBPJP1 RBPJ pseudogene 1
RDH10 retinol dehydrogenase 10 (all-trans)