niemann-pick 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_14504)
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Genes

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

Symbol Name Standardized Value
SMPD1 sphingomyelin phosphodiesterase 1, acid lysosomal 3.27973
NPC1 Niemann-Pick disease, type C1 3.02064
NPC2 Niemann-Pick disease, type C2 2.76779
CHIT1 chitinase 1 (chitotriosidase) 1.57957
SMPD2 sphingomyelin phosphodiesterase 2, neutral membrane (neutral sphingomyelinase) 1.42147
NPB neuropeptide B 1.3433
HEXA hexosaminidase A (alpha polypeptide) 1.24341
M6PR mannose-6-phosphate receptor (cation dependent) 1.15027
UGCG UDP-glucose ceramide glucosyltransferase 1.14136
RAB9A RAB9A, member RAS oncogene family 1.11309
NPC1L1 NPC1-like 1 0.994439
GDI2 GDP dissociation inhibitor 2 0.898282
PLA2G15 phospholipase A2, group XV 0.89582
ABCA1 ATP-binding cassette, sub-family A (ABC1), member 1 0.845031
GBA glucosidase, beta, acid 0.795002
APOD apolipoprotein D 0.757786
PRSS30P protease, serine, 30, pseudogene 0.699116
CCL18 chemokine (C-C motif) ligand 18 (pulmonary and activation-regulated) 0.698313
MFSD10 major facilitator superfamily domain containing 10 0.679898
ASAH1 N-acylsphingosine amidohydrolase (acid ceramidase) 1 0.654463
VPS4A vacuolar protein sorting 4 homolog A (S. cerevisiae) 0.648533
GAA glucosidase, alpha; acid 0.635921
PSAP prosaposin 0.635528
UGT8 UDP glycosyltransferase 8 0.613574
ACPP acid phosphatase, prostate 0.613574
LY96 lymphocyte antigen 96 0.60342
SERPINA4 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4 0.6003
LCAT lecithin-cholesterol acyltransferase 0.58005
ARSH arylsulfatase family, member H 0.563335
GALC galactosylceramidase 0.547807
HCRT hypocretin (orexin) neuropeptide precursor 0.536957
GAL3ST1 galactose-3-O-sulfotransferase 1 0.528449
GLB1 galactosidase, beta 1 0.503058
LPA lipoprotein, Lp(a) 0.48893
NR1H2 nuclear receptor subfamily 1, group H, member 2 0.482084
TMPRSS13 transmembrane protease, serine 13 0.463527
HMGCR 3-hydroxy-3-methylglutaryl-CoA reductase 0.462394
PSMD4 proteasome (prosome, macropain) 26S subunit, non-ATPase, 4 0.453339
SREBF1 sterol regulatory element binding transcription factor 1 0.449947
HSPBP1 HSPA (heat shock 70kDa) binding protein, cytoplasmic cochaperone 1 0.443923
CALB1 calbindin 1, 28kDa 0.443923
ARSA arylsulfatase A 0.442418
PVALB parvalbumin 0.436026
INSIG1 insulin induced gene 1 0.433021
SERPINB8 serpin peptidase inhibitor, clade B (ovalbumin), member 8 0.41465
CDK5 cyclin-dependent kinase 5 0.414276
B4GALNT1 beta-1,4-N-acetyl-galactosaminyl transferase 1 0.380739
SOAT1 sterol O-acyltransferase 1 0.378514
GM2A GM2 ganglioside activator 0.373698
GRIA3 glutamate receptor, ionotropic, AMPA 3 0.371107
CTSS cathepsin S 0.365932
IL6ST interleukin 6 signal transducer 0.349717
BCL11B B-cell CLL/lymphoma 11B (zinc finger protein) 0.335046
SLC5A7 solute carrier family 5 (sodium/choline cotransporter), member 7 0.330295
LDLR low density lipoprotein receptor 0.32373
CAV1 caveolin 1, caveolae protein, 22kDa 0.320454
MT3 metallothionein 3 0.304503
LAMP1 lysosomal-associated membrane protein 1 0.301976
APOE apolipoprotein E 0.301254
CNP 2',3'-cyclic nucleotide 3' phosphodiesterase 0.296931
OSTC oligosaccharyltransferase complex subunit (non-catalytic) 0.290462
GRIA4 glutamate receptor, ionotropic, AMPA 4 0.28294
ETFA electron-transfer-flavoprotein, alpha polypeptide 0.282225
KIF11 kinesin family member 11 0.275801
NAGLU N-acetylglucosaminidase, alpha 0.270464
TPP1 tripeptidyl peptidase I 0.263368
CTSB cathepsin B 0.257358
TRADD TNFRSF1A-associated via death domain 0.255241
APTX aprataxin 0.252774
NAGA N-acetylgalactosaminidase, alpha- 0.251015
KLK8 kallikrein-related peptidase 8 0.246098
SKAP2 src kinase associated phosphoprotein 2 0.23945
APOA1 apolipoprotein A-I 0.235964
SI sucrase-isomaltase (alpha-glucosidase) 0.232489
SORT1 sortilin 1 0.224196
NR1H3 nuclear receptor subfamily 1, group H, member 3 0.215992
GBE1 glucan (1,4-alpha-), branching enzyme 1 0.214636
GRIA2 glutamate receptor, ionotropic, AMPA 2 0.208245
PTGS1 prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase) 0.198064
LRP6 low density lipoprotein receptor-related protein 6 0.19742
ABCG5 ATP-binding cassette, sub-family G (WHITE), member 5 0.18472
CNOT2 CCR4-NOT transcription complex, subunit 2 0.177576
ICAM1 intercellular adhesion molecule 1 0.172799
HSPA4 heat shock 70kDa protein 4 0.162707
STAR steroidogenic acute regulatory protein 0.160021
FTL ferritin, light polypeptide 0.159302
GALNS galactosamine (N-acetyl)-6-sulfatase 0.157765