Occipital Encephalocele Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
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 https://www.disgenet.org/browser/0/1/0/C0014067
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Genes

33 genes associated with the disease Occipital Encephalocele in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
B3GNT1
B9D1 B9 protein domain 1
B9D2 B9 protein domain 2
C2CD3 C2 calcium-dependent domain containing 3
CC2D2A coiled-coil and C2 domain containing 2A
CEP290 centrosomal protein 290kDa
COL18A1 collagen, type XVIII, alpha 1
CSPP1 centrosome and spindle pole associated protein 1
CYP26B1 cytochrome P450, family 26, subfamily B, polypeptide 1
DACT1 dishevelled-binding antagonist of beta-catenin 1
FKRP fukutin related protein
FKTN fukutin
GLI3 GLI family zinc finger 3
GMPPB GDP-mannose pyrophosphorylase B
HOXD13 homeobox D13
INPP5E inositol polyphosphate-5-phosphatase, 72 kDa
KIAA0586 KIAA0586
LAMB1 laminin, beta 1
LARGE like-glycosyltransferase
MKS1 Meckel syndrome, type 1
POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
POMK protein-O-mannose kinase
POMT1 protein-O-mannosyltransferase 1
POMT2 protein-O-mannosyltransferase 2
RPGRIP1L RPGRIP1-like
SMARCC1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 1
TCTN1 tectonic family member 1
TMEM107 transmembrane protein 107
TMEM138 transmembrane protein 138
TMEM231 transmembrane protein 231
TMEM67 transmembrane protein 67
TXNDC15 thioredoxin domain containing 15
WDR63 WD repeat domain 63