occipital encephalocele Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description A type of encephalocele (that is, a a protrusion of part of the cranial contents including brain tissue through a congenital opening in the cranium, typically covered with skin or mucous membrane) in the occipital region of the skull. Occipital encephalocele presents as a midline swelling over the occipital bone. It is usually covered with normal full-thickness scalp. (Human Phenotype Ontology, HP_0002085)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0002085
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Genes

13 genes associated with the occipital encephalocele phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
B9D1 B9 protein domain 1
B9D2 B9 protein domain 2
CC2D2A coiled-coil and C2 domain containing 2A
COL18A1 collagen, type XVIII, alpha 1
CSPP1 centrosome and spindle pole associated protein 1
CYP26B1 cytochrome P450, family 26, subfamily B, polypeptide 1
HOXD13 homeobox D13
LAMB1 laminin, beta 1
MKS1 Meckel syndrome, type 1
POMT1 protein-O-mannosyltransferase 1
RPGRIP1L RPGRIP1-like
TMEM231 transmembrane protein 231
TMEM67 transmembrane protein 67