sandhoff disease Gene Set

Dataset DISEASES Text-mining Gene-Disease Association Evidence Scores
Category disease or phenotype associations
Type disease
Description OMIM mapping confirmed by DO. [SN]. (Human Disease Ontology, DOID_3323)
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Genes

47 genes co-occuring with the disease sandhoff disease in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

Symbol Name Standardized Value
HEXB hexosaminidase B (beta polypeptide) 3.29601
HEXA hexosaminidase A (alpha polypeptide) 2.87636
GM2A GM2 ganglioside activator 2.19456
ETFA electron-transfer-flavoprotein, alpha polypeptide 2.02658
HEXDC hexosaminidase (glycosyl hydrolase family 20, catalytic domain) containing 1.86323
CTSA cathepsin A 1.26473
SHD Src homology 2 domain containing transforming protein D 1.19143
INTS5 integrator complex subunit 5 1.00288
ENC1 ectodermal-neural cortex 1 (with BTB domain) 0.866731
UGCG UDP-glucose ceramide glucosyltransferase 0.851583
GLB1 galactosidase, beta 1 0.805667
GAA glucosidase, alpha; acid 0.788033
NPC1 Niemann-Pick disease, type C1 0.761047
SNCB synuclein, beta 0.724502
GBA2 glucosidase, beta (bile acid) 2 0.700321
GCNT4 glucosaminyl (N-acetyl) transferase 4, core 2 0.605762
GBA glucosidase, beta, acid 0.572662
IGF2R insulin-like growth factor 2 receptor 0.569941
GCNT1 glucosaminyl (N-acetyl) transferase 1, core 2 0.557509
ENGASE endo-beta-N-acetylglucosaminidase 0.555568
IDS iduronate 2-sulfatase 0.551686
MPI mannose phosphate isomerase 0.531541
ARSH arylsulfatase family, member H 0.476772
GCNT2 glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group) 0.445429
LAMP1 lysosomal-associated membrane protein 1 0.441666
ASAH1 N-acylsphingosine amidohydrolase (acid ceramidase) 1 0.431144
AIF1 allograft inflammatory factor 1 0.424014
PSAP prosaposin 0.413153
CCL3 chemokine (C-C motif) ligand 3 0.410535
NAGLU N-acetylglucosaminidase, alpha 0.40904
APTX aprataxin 0.390397
NAGA N-acetylgalactosaminidase, alpha- 0.388166
KIF11 kinesin family member 11 0.38111
PTGDS prostaglandin D2 synthase 21kDa (brain) 0.37555
MBTPS1 membrane-bound transcription factor peptidase, site 1 0.352291
UBC ubiquitin C 0.334681
RPS27A ribosomal protein S27a 0.325916
GALNS galactosamine (N-acetyl)-6-sulfatase 0.30631
UBB ubiquitin B 0.281153
NPC2 Niemann-Pick disease, type C2 0.279724
SYN1 synapsin I 0.279011
NCR3 natural cytotoxicity triggering receptor 3 0.268332
SPHK1 sphingosine kinase 1 0.22145
MRC1 mannose receptor, C type 1 0.218374
PHEX phosphate regulating endopeptidase homolog, X-linked 0.192971
CHIT1 chitinase 1 (chitotriosidase) 0.169091
CCL21 chemokine (C-C motif) ligand 21 0.161139