neuronal ceroid lipofuscinosis Gene Set

Dataset DISEASES Text-mining Gene-Disease Assocation Evidence Scores
Category disease or phenotype associations
Type disease
Description Neuronal ceroid lipofuscinoses (NCLs) are a group of inherited progressive degenerative brain diseases characterized clinically by a decline of mental and other capacities, epilepsy, and vision loss through retinal degeneration, and histopathologically by intracellular accumulation of an autofluorescent material, ceroid lipofuscin, in the neuronal cells in the brain and in the retina. (Orphanet Rare Disease Ontology, Orphanet_216)
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Genes

178 genes co-occuring with the disease neuronal ceroid lipofuscinosis in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

Symbol Name Standardized Value
CLN3 ceroid-lipofuscinosis, neuronal 3 3.69932
TPP1 tripeptidyl peptidase I 3.00086
PPT1 palmitoyl-protein thioesterase 1 2.98736
CLN6 ceroid-lipofuscinosis, neuronal 6, late infantile, variant 2.88611
CLN5 ceroid-lipofuscinosis, neuronal 5 2.83348
CLN8 ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation) 2.43927
MFSD8 major facilitator superfamily domain containing 8 2.22339
DNAJC5 DnaJ (Hsp40) homolog, subfamily C, member 5 1.66015
CTSD cathepsin D 1.58939
CAPN8 calpain 8 1.48208
C1QBP complement component 1, q subcomponent binding protein 1.46803
SKAP2 src kinase associated phosphoprotein 2 1.36684
HOOK1 hook microtubule-tethering protein 1 1.32891
CAPN5 calpain 5 1.2656
M6PR mannose-6-phosphate receptor (cation dependent) 1.2356
DOLPP1 dolichyldiphosphatase 1 1.22518
ATP5G3 ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C3 (subunit 9) 1.21089
ATP5G1 ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C1 (subunit 9) 1.18669
PQLC2 PQ loop repeat containing 2 1.18367
ATP13A2 ATPase type 13A2 1.15922
DOCK11 dedicator of cytokinesis 11 1.14178
ATP5G2 ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C2 (subunit 9) 1.13163
SULT1A4 sulfotransferase family, cytosolic, 1A, phenol-preferring, member 4 1.11561
PPT2 palmitoyl-protein thioesterase 2 1.08118
AGA aspartylglucosaminidase 1.06942
ZDHHC12 zinc finger, DHHC-type containing 12 1.0265
HEXA hexosaminidase A (alpha polypeptide) 1.0168
SNX4 sorting nexin 4 1.00414
ATP5O ATP synthase, H+ transporting, mitochondrial F1 complex, O subunit 0.942858
PRDM8 PR domain containing 8 0.939949
ARSG arylsulfatase G 0.925865
CTSF cathepsin F 0.925452
ZDHHC15 zinc finger, DHHC-type containing 15 0.878605
C19ORF12 chromosome 19 open reading frame 12 0.836837
PCYOX1 prenylcysteine oxidase 1 0.827409
BTNL9 butyrophilin-like 9 0.819206
LAMP1 lysosomal-associated membrane protein 1 0.805667
ATP6V0D2 ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d2 0.792541
GRN granulin 0.788442
ZDHHC13 zinc finger, DHHC-type containing 13 0.739894
NDUFB11 NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 11, 17.3kDa 0.738676
CTSH cathepsin H 0.729762
FA2H fatty acid 2-hydroxylase 0.722886
ACP2 acid phosphatase 2, lysosomal 0.683093
CERS5 ceramide synthase 5 0.682294
ZDHHC9 zinc finger, DHHC-type containing 9 0.676308
LAP3 leucine aminopeptidase 3 0.652484
NMB neuromedin B 0.633563
SLC39A7 solute carrier family 39 (zinc transporter), member 7 0.633169
SULT1A1 sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1 0.625319
CLCN6 chloride channel, voltage-sensitive 6 0.624143
ARHGAP21 Rho GTPase activating protein 21 0.618268
ZDHHC8 zinc finger, DHHC-type containing 8 0.610448
PLA2G6 phospholipase A2, group VI (cytosolic, calcium-independent) 0.610448
MPEG1 macrophage expressed 1 0.606152
CERS6 ceramide synthase 6 0.6003
ATP11A ATPase, class VI, type 11A 0.592116
GAD2 glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa) 0.580439
ZDHHC17 zinc finger, DHHC-type containing 17 0.580439
CLCN3 chloride channel, voltage-sensitive 3 0.556732
SULT1A3 sulfotransferase family, cytosolic, 1A, phenol-preferring, member 3 0.555956
CERS1 ceramide synthase 1 0.545093
CYTH1 cytohesin 1 0.544705
PISD phosphatidylserine decarboxylase 0.540055
MYCL v-myc avian myelocytomatosis viral oncogene lung carcinoma derived homolog 0.53928
CERS4 ceramide synthase 4 0.533861
KIF11 kinesin family member 11 0.524202
FUT3 fucosyltransferase 3 (galactoside 3(4)-L-fucosyltransferase, Lewis blood group) 0.523816
SLC1A3 solute carrier family 1 (glial high affinity glutamate transporter), member 3 0.521117
NBR1 neighbor of BRCA1 gene 1 0.517649
DUSP2 dual specificity phosphatase 2 0.509959
NAGLU N-acetylglucosaminidase, alpha 0.501527
LAMP2 lysosomal-associated membrane protein 2 0.501144
GAP43 growth associated protein 43 0.500379
TFEB transcription factor EB 0.495029
PSAP prosaposin 0.488549
FAM3B family with sequence similarity 3, member B 0.471468
CERS2 ceramide synthase 2 0.467684
STX6 syntaxin 6 0.466928
PRKCB protein kinase C, beta 0.465038
GGA3 golgi-associated, gamma adaptin ear containing, ARF binding protein 3 0.458996
NAGPA N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase 0.458996
RHO rhodopsin 0.433397
CTSS cathepsin S 0.425139
EPM2A epilepsy, progressive myoclonus type 2A, Lafora disease (laforin) 0.401572
GALNS galactosamine (N-acetyl)-6-sulfatase 0.396725
DNAH8 dynein, axonemal, heavy chain 8 0.390769
COX4I1 cytochrome c oxidase subunit IV isoform 1 0.387423
DHRS2 dehydrogenase/reductase (SDR family) member 2 0.383337
TMEM106B transmembrane protein 106B 0.377031
SOD2 superoxide dismutase 2, mitochondrial 0.37555
MCOLN1 mucolipin 1 0.374809
CAMK2A calcium/calmodulin-dependent protein kinase II alpha 0.372217
PITPNM1 phosphatidylinositol transfer protein, membrane-associated 1 0.341272
SPIB Spi-B transcription factor (Spi-1/PU.1 related) 0.337608
HP haptoglobin 0.33651
HPR haptoglobin-related protein 0.33066
ATP6V0A1 ATPase, H+ transporting, lysosomal V0 subunit a1 0.32993
CSTB cystatin B (stefin B) 0.329565
SLC29A3 solute carrier family 29 (equilibrative nucleoside transporter), member 3 0.328469
GRIA4 glutamate receptor, ionotropic, AMPA 4 0.322273
ANK3 ankyrin 3, node of Ranvier (ankyrin G) 0.32009
IGF2R insulin-like growth factor 2 receptor 0.318635
CASP3 caspase 3, apoptosis-related cysteine peptidase 0.30631
NPS neuropeptide S 0.305587
APOPT1 apoptogenic 1, mitochondrial 0.302698
OSTM1 osteopetrosis associated transmembrane protein 1 0.301976
IDS iduronate 2-sulfatase 0.301615
PRCD progressive rod-cone degeneration 0.289386
PEMT phosphatidylethanolamine N-methyltransferase 0.284728
C14ORF1 chromosome 14 open reading frame 1 0.28294
GAMT guanidinoacetate N-methyltransferase 0.282225
SLC29A2 solute carrier family 29 (equilibrative nucleoside transporter), member 2 0.28151
KCNA2 potassium channel, voltage gated shaker related subfamily A, member 2 0.275801
SERPINB8 serpin peptidase inhibitor, clade B (ovalbumin), member 8 0.275801
VPS35 vacuolar protein sorting 35 homolog (S. cerevisiae) 0.274732
SUMF2 sulfatase modifying factor 2 0.274376
GAD1 glutamate decarboxylase 1 (brain, 67kDa) 0.269398
MOGS mannosyl-oligosaccharide glucosidase 0.267622
RNH1 ribonuclease/angiogenin inhibitor 1 0.266203
SPN sialophorin 0.266203
GLB1 galactosidase, beta 1 0.26514
RD3 retinal degeneration 3 0.261245
SCP2 sterol carrier protein 2 0.260184
PRPH2 peripherin 2 (retinal degeneration, slow) 0.259124
POLG polymerase (DNA directed), gamma 0.256299
PANK1 pantothenate kinase 1 0.255594
ACO1 aconitase 1, soluble 0.254888
COL9A2 collagen, type IX, alpha 2 0.251366
ARSH arylsulfatase family, member H 0.247501
MFRP membrane frizzled-related protein 0.246799
BTG2 BTG family, member 2 0.244345
RNF31 ring finger protein 31 0.237357
SLC22A12 solute carrier family 22 (organic anion/urate transporter), member 12 0.237357
TUB tubby bipartite transcription factor 0.235616
ARF1 ADP-ribosylation factor 1 0.234225
POU4F1 POU class 4 homeobox 1 0.232142
DPAGT1 dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase) 0.231448
GOLPH3 golgi phosphoprotein 3 (coat-protein) 0.230063
CTSB cathepsin B 0.215653
SGSH N-sulfoglucosamine sulfohydrolase 0.214975
CLCN7 chloride channel, voltage-sensitive 7 0.212945
PVALB parvalbumin 0.206248
CA4 carbonic anhydrase IV 0.194865
DPYSL2 dihydropyrimidinase-like 2 0.194232
RPS6KA1 ribosomal protein S6 kinase, 90kDa, polypeptide 1 0.191719
CTSL cathepsin L 0.186811
ACLY ATP citrate lyase 0.184128
PDE6B phosphodiesterase 6B, cGMP-specific, rod, beta 0.176485
SAR1A secretion associated, Ras related GTPase 1A 0.174354
NR2E3 nuclear receptor subfamily 2, group E, member 3 0.174093
CUL3 cullin 3 0.174093
RAP2B RAP2B, member of RAS oncogene family 0.172038
VDAC1 voltage-dependent anion channel 1 0.171785
RAB1B RAB1B, member RAS oncogene family 0.169571
ARF3 ADP-ribosylation factor 3 0.162109
SYP synaptophysin 0.162109
MAP4 microtubule-associated protein 4 0.159302
RAPGEF1 Rap guanine nucleotide exchange factor (GEF) 1 0.158266
CACNA1B calcium channel, voltage-dependent, N type, alpha 1B subunit 0.158097
AGPS alkylglycerone phosphate synthase 0.144427
KCNJ12 potassium channel, inwardly rectifying subfamily J, member 12 0.14441
SBDS Shwachman-Bodian-Diamond syndrome 0.144377
SLC26A3 solute carrier family 26 (anion exchanger), member 3 0.144345
PANK2 pantothenate kinase 2 0.144018
UQCRC2 ubiquinol-cytochrome c reductase core protein II 0.143969
NR4A1 nuclear receptor subfamily 4, group A, member 1 0.14391
NSF N-ethylmaleimide-sensitive factor 0.143878
HES5 hes family bHLH transcription factor 5 0.143606
UBC ubiquitin C 0.143514
HGS hepatocyte growth factor-regulated tyrosine kinase substrate 0.143481
RPS27A ribosomal protein S27a 0.143379
RCVRN recoverin 0.143349
PTTG1 pituitary tumor-transforming 1 0.143216
FDPS farnesyl diphosphate synthase 0.142619
UBB ubiquitin B 0.142533
POU2F3 POU class 2 homeobox 3 0.142517
CYR61 cysteine-rich, angiogenic inducer, 61 0.14116