Cobblestone Lissencephaly Gene Set
Genes
23 genes associated with the disease Cobblestone Lissencephaly in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
| Symbol |
Name |
|
ADGRG1
|
adhesion G protein-coupled receptor G1
|
|
AQP1
|
aquaporin 1 (Colton blood group)
|
|
B3GALNT2
|
beta-1,3-N-acetylgalactosaminyltransferase 2
|
|
B3GNT1
|
|
|
DAG1
|
dystroglycan 1 (dystrophin-associated glycoprotein 1)
|
|
FKRP
|
fukutin related protein
|
|
FKTN
|
fukutin
|
|
GMPPB
|
GDP-mannose pyrophosphorylase B
|
|
ISPD
|
isoprenoid synthase domain containing
|
|
LAMB1
|
laminin, beta 1
|
|
LARGE
|
like-glycosyltransferase
|
|
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
|
|
RIC8A
|
RIC8 guanine nucleotide exchange factor A
|
|
TMEM5
|
transmembrane protein 5
|
|
TMTC3
|
transmembrane and tetratricopeptide repeat containing 3
|
|
TPR
|
translocated promoter region, nuclear basket protein
|
|
TUBB3
|
tubulin, beta 3 class III
|
|
ZIC3
|
Zic family member 3
|
|
ZIC5
|
Zic family member 5
|
