Encephalocele Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description A neural tube defect characterized by sac-like protrusions of the brain and the membranes that cover it through openings in the skull. (Human Phenotype Ontology, HP_0002084)
External Link https://www.disgenet.org/browser/0/1/0/C4551722
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Genes

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

Symbol Name
ALX3 ALX homeobox 3
BBS2 Bardet-Biedl syndrome 2
CASP3 caspase 3, apoptosis-related cysteine peptidase
CASP8 caspase 8, apoptosis-related cysteine peptidase
CASP9 caspase 9, apoptosis-related cysteine peptidase
CC2D2A coiled-coil and C2 domain containing 2A
COL18A1 collagen, type XVIII, alpha 1
CSF2 colony stimulating factor 2 (granulocyte-macrophage)
FKTN fukutin
FUZ fuzzy planar cell polarity protein
GRHL3 grainyhead-like 3 (Drosophila)
LAMC2 laminin, gamma 2
MKS1 Meckel syndrome, type 1
MSX2 msh homeobox 2
PAX3 paired box 3
RMND5A required for meiotic nuclear division 5 homolog A (S. cerevisiae)
SOX2 SRY (sex determining region Y)-box 2
SUFU suppressor of fused homolog (Drosophila)
TFAP2A transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)
TMEM67 transmembrane protein 67
TP53 tumor protein p53
TXNDC15 thioredoxin domain containing 15
WDR63 WD repeat domain 63