Sandhoff 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_3323)
External Link https://www.disgenet.org/browser/0/1/0/C1849320
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Genes

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

Symbol Name
APP amyloid beta (A4) precursor protein
ARSA arylsulfatase A
CCL3 chemokine (C-C motif) ligand 3
GLB1 galactosidase, beta 1
GM2A GM2 ganglioside activator
HEXA hexosaminidase A (alpha polypeptide)
HEXB hexosaminidase B (beta polypeptide)
HEXDC hexosaminidase (glycosyl hydrolase family 20, catalytic domain) containing
HHEX hematopoietically expressed homeobox
IL15 interleukin 15
MIP major intrinsic protein of lens fiber
NPC2 Niemann-Pick disease, type C2
NPTX1 neuronal pentraxin I
OGA O-GlcNAcase
RPS27A ribosomal protein S27a
SNCB synuclein, beta
TNF tumor necrosis factor
UBC ubiquitin C
UCHL1 ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase)
UGCG UDP-glucose ceramide glucosyltransferase