Alexander Disease Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description A leukodystrophy that is characterized by the destruction of white matter and the formation of Rosenthal fibers consisting of abnormal clumps of protein that accumulate in astrocytes. (Human Disease Ontology, DOID_4252)
External Link https://www.disgenet.org/browser/0/1/0/C0270726
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Genes

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

Symbol Name
AVP arginine vasopressin
BTG3 BTG family, member 3
CASP3 caspase 3, apoptosis-related cysteine peptidase
CASP6 caspase 6, apoptosis-related cysteine peptidase
CD38 CD38 molecule
CHI3L1 chitinase 3-like 1 (cartilage glycoprotein-39)
COL4A1 collagen, type IV, alpha 1
CRYAB crystallin, alpha B
DES desmin
GABPA GA binding protein transcription factor, alpha subunit 60kDa
GFAP glial fibrillary acidic protein
HSPB1 heat shock 27kDa protein 1
HSPB2 heat shock 27kDa protein 2
HSPB3 heat shock 27kDa protein 3
HSPB8 heat shock 22kDa protein 8
ITPR2 inositol 1,4,5-trisphosphate receptor, type 2
KRT8 keratin 8, type II
MAPK14 mitogen-activated protein kinase 14
MTOR mechanistic target of rapamycin (serine/threonine kinase)
NFE2L2 nuclear factor, erythroid 2-like 2
PLEC plectin
SLC1A2 solute carrier family 1 (glial high affinity glutamate transporter), member 2
SNCA synuclein, alpha (non A4 component of amyloid precursor)
SYNM synemin, intermediate filament protein
TARDBP TAR DNA binding protein
TRH thyrotropin-releasing hormone
WDHD1 WD repeat and HMG-box DNA binding protein 1