Congenital Microcephaly Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description Microcephaly (HP:0000252) that is present already at the time of birth. (Human Phenotype Ontology, HP_0011451)
External Link https://www.disgenet.org/browser/0/1/0/C2677180
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Genes

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

Symbol Name
ABCD1 ATP-binding cassette, sub-family D (ALD), member 1
ALG1 ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase
ALG11 ALG11, alpha-1,2-mannosyltransferase
ASNS asparagine synthetase (glutamine-hydrolyzing)
ASPM asp (abnormal spindle) homolog, microcephaly associated (Drosophila)
CASK calcium/calmodulin-dependent serine protein kinase (MAGUK family)
CDK5RAP2 CDK5 regulatory subunit associated protein 2
CENPJ centromere protein J
CLPB ClpB homolog, mitochondrial AAA ATPase chaperonin
CTNNB1 catenin (cadherin-associated protein), beta 1, 88kDa
DARS1 aspartyl-tRNA synthetase 1
DHCR7 7-dehydrocholesterol reductase
DISC1 disrupted in schizophrenia 1
EOMES eomesodermin
FIG4 FIG4 phosphoinositide 5-phosphatase
FOXG1 forkhead box G1
FRMD4A FERM domain containing 4A
GRIN2A glutamate receptor, ionotropic, N-methyl D-aspartate 2A
JAM3 junctional adhesion molecule 3
KATNB1 katanin p80 (WD repeat containing) subunit B 1
KCNQ1 potassium channel, voltage gated KQT-like subfamily Q, member 1
KIF11 kinesin family member 11
MTM1 myotubularin 1
NBN nibrin
NDE1 nudE neurodevelopment protein 1
NLRP2 NLR family, pyrin domain containing 2
PCDH12 protocadherin 12
PHGDH phosphoglycerate dehydrogenase
PIGH phosphatidylinositol glycan anchor biosynthesis, class H
PNKP polynucleotide kinase 3'-phosphatase
POMT1 protein-O-mannosyltransferase 1
PSAT1 phosphoserine aminotransferase 1
RBBP8 retinoblastoma binding protein 8
RNF13 ring finger protein 13
RTTN rotatin
SLC1A4 solute carrier family 1 (glutamate/neutral amino acid transporter), member 4
SMARCAL1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1
SNRPE small nuclear ribonucleoprotein polypeptide E
TAF13 TAF13 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 18kDa
TBCD tubulin folding cofactor D
TBX4 T-box 4
TMX2 thioredoxin-related transmembrane protein 2
TRIO trio Rho guanine nucleotide exchange factor
TSEN54 TSEN54 tRNA splicing endonuclease subunit
TUBA1A tubulin, alpha 1a
TUBB3 tubulin, beta 3 class III
TXN thioredoxin
TXN2 thioredoxin 2
VAC14 Vac14 homolog (S. cerevisiae)
WDR62 WD repeat domain 62
ZMPSTE24 zinc metallopeptidase STE24