congenital nervous system abnormality Gene Set

Dataset DISEASES Curated Gene-Disease Assocation Evidence Scores
Category disease or phenotype associations
Type disease
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Genes

40 genes involed in the disease congenital nervous system abnormality from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

Symbol Name
ARX aristaless related homeobox
ASPM asp (abnormal spindle) homolog, microcephaly associated (Drosophila)
B3GALNT2 beta-1,3-N-acetylgalactosaminyltransferase 2
B3GNT1
CASC5 cancer susceptibility candidate 5
CDK5RAP2 CDK5 regulatory subunit associated protein 2
CDON cell adhesion associated, oncogene regulated
CENPJ centromere protein J
CEP135 centrosomal protein 135kDa
CEP152 centrosomal protein 152kDa
DCX doublecortin
FGFR1 fibroblast growth factor receptor 1
FKRP fukutin related protein
FKTN fukutin
GLI2 GLI family zinc finger 2
ISPD isoprenoid synthase domain containing
LAMB1 laminin, beta 1
MCPH1 microcephalin 1
NDE1 nudE neurodevelopment protein 1
PAFAH1B1 platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)
PHC1 polyhomeotic homolog 1 (Drosophila)
PNKP polynucleotide kinase 3'-phosphatase
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
PTCH1 patched 1
QARS glutaminyl-tRNA synthetase
RELN reelin
SHH sonic hedgehog
SIX3 SIX homeobox 3
STIL SCL/TAL1 interrupting locus
TCF4 transcription factor 4
TGIF1 TGFB-induced factor homeobox 1
TMEM5 transmembrane protein 5
TUBA1A tubulin, alpha 1a
WDR62 WD repeat domain 62
ZIC2 Zic family member 2
ZNF335 zinc finger protein 335