encephalocele Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
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 http://compbio.charite.de/hpoweb/showterm?id=HP:0002084
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Genes

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

Symbol Name
AHI1 Abelson helper integration site 1
AIPL1 aryl hydrocarbon receptor interacting protein-like 1
ALX3 ALX homeobox 3
ALX4 ALX homeobox 4
ARHGAP31 Rho GTPase activating protein 31
ARL13B ADP-ribosylation factor-like 13B
B3GALNT2 beta-1,3-N-acetylgalactosaminyltransferase 2
B3GNT1
B9D1 B9 protein domain 1
B9D2 B9 protein domain 2
C5ORF42 chromosome 5 open reading frame 42
CC2D2A coiled-coil and C2 domain containing 2A
CEP290 centrosomal protein 290kDa
CEP41 centrosomal protein 41kDa
COL18A1 collagen, type XVIII, alpha 1
COL4A1 collagen, type IV, alpha 1
CRB1 crumbs family member 1, photoreceptor morphogenesis associated
CRX cone-rod homeobox
CSPP1 centrosome and spindle pole associated protein 1
CYP26B1 cytochrome P450, family 26, subfamily B, polypeptide 1
DOCK6 dedicator of cytokinesis 6
EOGT EGF domain-specific O-linked N-acetylglucosamine (GlcNAc) transferase
ESCO2 establishment of sister chromatid cohesion N-acetyltransferase 2
FGFR1 fibroblast growth factor receptor 1
FGFR3 fibroblast growth factor receptor 3
FKRP fukutin related protein
FKTN fukutin
FLNA filamin A, alpha
FLNB filamin B, beta
FRAS1 Fraser extracellular matrix complex subunit 1
FREM2 FRAS1 related extracellular matrix protein 2
GDF6 growth differentiation factor 6
GRIP1 glutamate receptor interacting protein 1
GUCY2D guanylate cyclase 2D, membrane (retina-specific)
HOXD13 homeobox D13
IMPDH1 IMP (inosine 5'-monophosphate) dehydrogenase 1
INPP5E inositol polyphosphate-5-phosphatase, 72 kDa
IQCB1 IQ motif containing B1
ISPD isoprenoid synthase domain containing
KCNJ13 potassium channel, inwardly rectifying subfamily J, member 13
KIF7 kinesin family member 7
LAMB1 laminin, beta 1
LARGE like-glycosyltransferase
LCA5 Leber congenital amaurosis 5
LRAT lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase)
MKS1 Meckel syndrome, type 1
MSX2 msh homeobox 2
NMNAT1 nicotinamide nucleotide adenylyltransferase 1
NOTCH1 notch 1
NPHP1 nephronophthisis 1 (juvenile)
OFD1 oral-facial-digital syndrome 1
PDE6D phosphodiesterase 6D, cGMP-specific, rod, delta
POLR1C polymerase (RNA) I polypeptide C, 30kDa
POLR1D polymerase (RNA) I polypeptide D, 16kDa
POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
POMGNT2 protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-)
POMK protein-O-mannose kinase
POMT1 protein-O-mannosyltransferase 1
POMT2 protein-O-mannosyltransferase 2
RBPJ recombination signal binding protein for immunoglobulin kappa J region
RD3 retinal degeneration 3
RDH12 retinol dehydrogenase 12 (all-trans/9-cis/11-cis)
RPE65 retinal pigment epithelium-specific protein 65kDa
RPGRIP1 retinitis pigmentosa GTPase regulator interacting protein 1
RPGRIP1L RPGRIP1-like
SPATA7 spermatogenesis associated 7
TCOF1 Treacher Collins-Franceschetti syndrome 1
TCTN1 tectonic family member 1
TCTN2 tectonic family member 2
TCTN3 tectonic family member 3
TMEM138 transmembrane protein 138
TMEM216 transmembrane protein 216
TMEM231 transmembrane protein 231
TMEM237 transmembrane protein 237
TMEM5 transmembrane protein 5
TMEM67 transmembrane protein 67
TULP1 tubby like protein 1
VSX1 visual system homeobox 1
WDPCP WD repeat containing planar cell polarity effector
ZNF423 zinc finger protein 423
ZSWIM6 zinc finger, SWIM-type containing 6