myelomeningocele Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description A spina bifida characterized by protrusion of the spinal cord through an opening, covered by meningeal membranes. (Human Disease Ontology, DOID_0060326)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0002475
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Genes

17 genes associated with the myelomeningocele phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
BMPER BMP binding endothelial regulator
FLNA filamin A, alpha
FRAS1 Fraser extracellular matrix complex subunit 1
FREM2 FRAS1 related extracellular matrix protein 2
FUZ fuzzy planar cell polarity protein
GRIP1 glutamate receptor interacting protein 1
H19 H19, imprinted maternally expressed transcript (non-protein coding)
HES7 hes family bHLH transcription factor 7
IGF2 insulin-like growth factor 2
KCNQ1OT1 KCNQ1 opposite strand/antisense transcript 1 (non-protein coding)
NSDHL NAD(P) dependent steroid dehydrogenase-like
OFD1 oral-facial-digital syndrome 1
PAX3 paired box 3
PORCN porcupine homolog (Drosophila)
SC5D sterol-C5-desaturase
VANGL1 VANGL planar cell polarity protein 1
VANGL2 VANGL planar cell polarity protein 2