Disease | Gene symbol | Gene name |
---|---|---|
Microcephaly | DYRK1A | Dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A |
MCPH1 | Microcephalin 1 | |
CASK | Calcium/calmodulin-dependent serine protein kinase (MAGUK family) | |
PHGDH | Phosphoglycerate dehydrogenase | |
ARFGEF2 | ADP-ribosylation factor guanine nucleotide-exchange factor 2 | |
ASPM | Asp (abnormal spindle) homolog, microcephaly associated | |
CENPJ | Centromere protein J | |
CEP152 | Centrosomal protein 152Â kDa | |
SLC25A19 | Solute carrier family 25 (mitochondrial thiamine pyrophosphate carrier), member 19 | |
WDR62 | WD repeat domain 62 | |
CDK5RAP2 | CDK5 regulatory subunit associated protein 2 | |
CASC5 | Cancer susceptibility candidate 5 | |
NBN | Nibrin | |
EFTUD2 | Elongation factor Tu GTP binding domain containing 2 | |
IER3IP1 | Immediate early response 3 interacting protein 1 | |
STIL | SCL/TAL1 interrupting locus | |
CEP135 | Centrosomal protein 135Â kDa | |
ZNF335 | Zinc finger protein 335 | |
NDE1 | nudE nuclear distribution E homolog 1 | |
DIAPH1 | Diaphanous homolog 1 | |
KIF11 | Kinesin family member 11 | |
Congenital nervous system disorders | MCPH1 | Microcephalin 1 |
ARFGEF2 | ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited) | |
TGIF1 | TGFB-induced factor homeobox 1 | |
GRIN2B | Glutamate receptor, ionotropic, N-methyl d-aspartate 2B | |
SLC12A5 | Solute carrier family 12 (potassium/chloride transporter), member 5 | |
FLNA | Filamin A, alpha | |
SIX3 | SIX homeobox 3 | |
SHH | Sonic hedgehog | |
CDK5RAP2 | CDK5 regulatory subunit associated protein 2 | |
NDE1 | nudE nuclear distribution E homolog 1 | |
WDR62 | WD repeat domain 62 | |
ASPM | Asp (abnormal spindle) homolog, microcephaly associated | |
CENPJ | Centromere protein J | |
STIL | SCL/TAL1 interrupting locus | |
FKTN | Fukutin | |
POMGNT1 | Protein O−linked mannose beta1,2−N−acetylglucosaminyltransferase | |
CEP152 | Centrosomal protein 152Â kDa | |
POMT2 | Protein−O−mannosyltransferase 2 | |
GLI2 | GLI family zinc finger 2 | |
ZNF335 | Zinc finger protein 335 | |
Epilepsy syndrome | CDKL5 | Cyclin−dependent kinase−like 5 |
CSTB | Cystatin B (stefin B) | |
TSC1 | Tuberous sclerosis 1 | |
CACNB4 | Calcium channel, voltage−dependent, beta 4 subunit | |
CLCN2 | Chloride channel, voltage−sensitive 2 | |
PCDH19 | Protocadherin 19 | |
KCNQ2 | Potassium voltage−gated channel, KQT−like subfamily, member 2 | |
CLN5 | Ceroid−lipofuscinosis, neuronal 5 | |
ATP1A2 | ATPase, Na +/K + transporting, alpha 2 polypeptide | |
LGI1 | Leucine−rich, glioma inactivated 1 | |
SCN1B | Sodium channel, voltage−gated, type I, beta subunit | |
ALDH5A1 | Aldehyde dehydrogenase 5 family, member A1 | |
EFHC1 | EF−hand domain (C−terminal) containing 1 | |
Encephalitis | DDX58 | DEAD (Asp−Glu−Ala−Asp) box polypeptide 58 |
RPSA | Ribosomal protein SA | |
TREX1 | Three prime repair exonuclease 1 | |
Demyelinating disease | PLP1 | Proteolipid protein 1 |
RTN4 | Reticulon 4 | |
GALC | Galactosylceramidase | |
GBS | FAS | Fas (TNF receptor superfamily, member 6) |