Pelizaeus-Merzbacher Disease Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description OMIM mapping confirmed by DO. [SN]. (Human Disease Ontology, DOID_3210)
External Link https://www.disgenet.org/browser/0/1/0/C0751915
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Genes

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

Symbol Name
AFP alpha-fetoprotein
AIMP1 aminoacyl tRNA synthetase complex-interacting multifunctional protein 1
AMH anti-Mullerian hormone
CAPN1 calpain 1, (mu/I) large subunit
CAPN2 calpain 2, (m/II) large subunit
CAPN3 calpain 3, (p94)
CDT1 chromatin licensing and DNA replication factor 1
FAM126A family with sequence similarity 126, member A
FIGF c-fos induced growth factor (vascular endothelial growth factor D)
GJA1 gap junction protein, alpha 1, 43kDa
GJA3 gap junction protein, alpha 3, 46kDa
GJC2 gap junction protein, gamma 2, 47kDa
GPM6B glycoprotein M6B
HSPD1 heat shock 60kDa protein 1 (chaperonin)
IFT122 intraflagellar transport 122
L1CAM L1 cell adhesion molecule
LMNB1 lamin B1
MAG myelin associated glycoprotein
MBP myelin basic protein
MSH3 mutS homolog 3
PDXP pyridoxal (pyridoxine, vitamin B6) phosphatase
PLP1 proteolipid protein 1
PMP22 peripheral myelin protein 22
POLR3A polymerase (RNA) III (DNA directed) polypeptide A, 155kDa
PRDX5 peroxiredoxin 5
PTHLH parathyroid hormone-like hormone
RARS1 arginyl-tRNA synthetase 1
RNF6 ring finger protein (C3H2C3 type) 6
SLC16A2 solute carrier family 16, member 2 (thyroid hormone transporter)
SOX10 SRY (sex determining region Y)-box 10
TBPL1 TBP-like 1
TUBB4A tubulin, beta 4A class IVa
TYRP1 tyrosinase-related protein 1