Homo sapiens

48 known processes

NPC2

Niemann-Pick disease, type C2

(Aliases: EDDM1,HE1,MGC1333)

NPC2 biological process predictions


Filter by process size:
Biological processGO term IDProcess sizeProbabilityFunc Analog Org
regulation of rubidium ion transportGO:200068030.843
response to thyroid hormoneGO:009706690.635
regulation of peptidase activityGO:00525471800.592
determination of adult lifespanGO:000834020.459
regulation of blood vessel remodelingGO:006031220.412
rubidium ion transportGO:003582640.378
protein maturationGO:00516042330.334
cellular amide metabolic processGO:0043603690.302
epithelium developmentGO:00604292270.301
response to bacteriumGO:00096171440.293
peptide catabolic processGO:0043171100.272
regulation of protein processingGO:00706131500.272
regulation of proteolysisGO:00301622930.269
protein processingGO:00164852260.262
cellular response to thyroid hormone stimulusGO:009706790.262
collagen catabolic processGO:0030574100.255
negative regulation of glycoprotein metabolic processGO:190301980.248
detection of chemical stimulus involved in sensory perception of tasteGO:0050912310.238
regulation of metalloenzyme activityGO:004855230.237
multicellular organismal agingGO:001025930.216
kinin cascadeGO:000225410.215
regulation of vesicle mediated transportGO:00606271300.215
detection of chemical stimulusGO:0009593550.191
regulation of endopeptidase activityGO:00525481700.187
epithelial cell differentiationGO:00308551410.185
apoptotic signaling pathwayGO:00971902680.175
response to other organismGO:00517072610.171
negative regulation of endopeptidase activityGO:0010951840.159
negative regulation of blood vessel remodelingGO:006031310.158
response to lipidGO:00339932060.156
antigen processing and presentation of peptide antigenGO:0048002180.154
oogenesisGO:004847720.153
defense responseGO:00069523150.152
vesicle mediated transportGO:00161923710.148
regulation of integrin mediated signaling pathwayGO:200104430.148
epithelium migrationGO:00901321190.146
elastin catabolic processGO:006030910.141
negative regulation of elastin catabolic processGO:006031110.140
regulation of elastin catabolic processGO:006031010.139
autophagyGO:0006914880.138
negative regulation of cell deathGO:00605483450.136
ameboidal type cell migrationGO:00016671350.131
negative regulation of protein metabolic processGO:00512483910.130
negative regulation of proteolysisGO:00458611320.128
single organism membrane organizationGO:00448022680.128
regulation of protein maturationGO:19033171500.128
negative regulation of collagen catabolic processGO:001071110.126
detection of chemical stimulus involved in sensory perceptionGO:0050907330.124
innate immune responseGO:00450871780.122
vasculature developmentGO:00019441810.116
negative regulation of hydrolase activityGO:00513461820.116
negative regulation of cellular protein metabolic processGO:00322693530.110
post embryonic developmentGO:000979120.107
carbohydrate metabolic processGO:00059752070.104
anatomical structure homeostasisGO:00602491000.102
locomotory behaviorGO:000762610.102
blood vessel morphogenesisGO:00485141620.101
antigen processing and presentationGO:0019882330.097
response to hormoneGO:00097251750.097
neurological system processGO:00508771630.096
cytokine productionGO:00018162470.095
response to biotic stimulusGO:00096072760.095
negative regulation of catalytic activityGO:00430863350.095
angiogenesisGO:00015251470.094
matingGO:000761810.091
immune effector processGO:00022521590.087
signal transduction by phosphorylationGO:00230142970.086
negative regulation of metalloenzyme activityGO:004855310.083
response to external biotic stimulusGO:00432072610.079
response to woundingGO:00096111680.079
regulation of cell motilityGO:20001452990.078
negative regulation of peptidase activityGO:0010466910.078
negative regulation of trophoblast cell migrationGO:190116430.077
detection of biotic stimulusGO:0009595210.077
regulation of locomotionGO:00400123290.076
peptide metabolic processGO:0006518510.076
negative regulation of membrane protein ectodomain proteolysisGO:005104540.075
negative regulation of protein maturationGO:19033181420.074
female gamete generationGO:000729220.072
negative regulation of protein processingGO:00109551420.071
gtp metabolic processGO:00460392390.069
regulation of cellular component movementGO:00512703340.069
regulation of cell migrationGO:00303342890.068
sensory perception of tasteGO:0050909360.068
sensory perception of chemical stimulusGO:0007606380.067
cellular macromolecule catabolic processGO:00442653800.067
positive regulation of organelle organizationGO:00106381950.065
regulation of apoptotic signaling pathwayGO:20012331750.064
positive regulation of t cell tolerance inductionGO:000266620.062
negative regulation of programmed cell deathGO:00430693210.061
multicellular organismal homeostasisGO:0048871670.061
epithelial cell migrationGO:00106311190.060
cellular metal ion homeostasisGO:00068751460.057
immune responseGO:00069553070.057
regulation of defense responseGO:00313471540.056
negative regulation of cell proliferationGO:00082852280.055
system processGO:00030083490.053
membrane organizationGO:00610242920.052
defense response to bacteriumGO:0042742630.050
cellular response to endogenous stimulusGO:00714953360.049
detection of stimulusGO:0051606850.048
cell developmentGO:00484683280.048
anatomical structure formation involved in morphogenesisGO:00486462840.047
retina homeostasisGO:0001895420.047
tissue migrationGO:00901301190.047
single organism reproductive processGO:0044702980.047
g protein coupled receptor signaling pathway coupled to cyclic nucleotide second messengerGO:0007187430.046
organelle fusionGO:0048284360.046
angiogenesis involved in wound healingGO:006005540.046
tissue homeostasisGO:0001894630.045
negative regulation of multicellular organismal metabolic processGO:004425230.045
mapk cascadeGO:00001652880.044
extrinsic apoptotic signaling pathwayGO:00971911190.044
vesicle organizationGO:0016050620.044
tissue regenerationGO:004224630.043
neuronal action potentialGO:001922890.043
basement membrane organizationGO:007171130.043
negative regulation of cell migrationGO:00303361020.042
cellular response to hormone stimulusGO:00328701250.042
xenobiotic metabolic processGO:0006805280.041
regenerationGO:003109940.041
regulation of purine nucleotide metabolic processGO:19005422640.041
cellular response to lipidGO:00713961270.040
hematopoietic or lymphoid organ developmentGO:00485341860.040
blood vessel developmentGO:00015681720.040
endothelial cell migrationGO:0043542860.040
regulation of cell differentiationGO:00455953930.040
regulation of protein catabolic processGO:00421761550.040
lipid metabolic processGO:00066293810.039
positive regulation of transportGO:00510503360.039
positive regulation of ras gtpase activityGO:00323201170.039
positive regulation of cysteine type endopeptidase activity involved in apoptotic processGO:0043280690.038
positive regulation of catabolic processGO:00098963100.037
single organism membrane fusionGO:0044801370.037
cell activationGO:00017752130.037
proteolysis involved in cellular protein catabolic processGO:00516032440.037
ganglioside catabolic processGO:000668930.036
circulatory system developmentGO:00723592620.036
regulation of vascular endothelial growth factor signaling pathwayGO:190074660.035
transmembrane receptor protein tyrosine kinase signaling pathwayGO:00071691810.035
guanosine containing compound metabolic processGO:19010682440.035
regulation of multi organism processGO:00439001570.035
hemopoiesisGO:00300971800.034
negative regulation of cellular catabolic processGO:0031330830.034
negative regulation of cell motilityGO:20001461040.034
response to axon injuryGO:004867810.034
sensory perception of bitter tasteGO:0050913280.033
regulation of secretionGO:00510461940.033
protein localization to membraneGO:00726571600.033
negative regulation of serine type peptidase activityGO:190257220.033
regulation of collagen catabolic processGO:001071030.033
positive regulation of cell motilityGO:20001471770.033
response to xenobiotic stimulusGO:0009410300.033
extrinsic apoptotic signaling pathway via death domain receptorsGO:0008625420.033
protein tetramerizationGO:0051262470.033
endosomal transportGO:00161971290.033
regulation of secretion by cellGO:19035301770.033
leukocyte mediated immunityGO:0002443590.032
peripheral nervous system developmentGO:000742220.032
regulation of i kappab kinase nf kappab signalingGO:00431221620.032
regulation of response to external stimulusGO:00321012220.032
membrane raft assemblyGO:000176570.031
regulation of gtpase activityGO:00430871800.031
cell adhesionGO:00071553250.031
regulation of phospholipase a2 activityGO:003242940.031
response to inorganic substanceGO:00100351270.031
defense response to other organismGO:00985421290.031
prostate gland developmentGO:003085030.030
regulation of natural killer cell mediated immunityGO:0002715160.030
eye pigmentationGO:004806910.030
leukocyte differentiationGO:0002521980.030
single organism carbohydrate metabolic processGO:00447231930.030
ribonucleoside triphosphate catabolic processGO:00092033910.030
protein catabolic processGO:00301633250.030
purine ribonucleotide catabolic processGO:00091544040.030
cellular component morphogenesisGO:00329893140.029
cation transportGO:00068123310.029
positive regulation of programmed cell deathGO:00430682490.029
chemical homeostasisGO:00488783060.029
neuromuscular processGO:0050905150.029
negative regulation of multicellular organismal processGO:00512413170.029
multicellular organismal metabolic processGO:0044236340.029
nucleoside catabolic processGO:00091644080.029
decidualizationGO:004669740.028
reproductive processGO:00224141060.028
negative regulation of serine type endopeptidase activityGO:190000420.028
nervous system developmentGO:00073992930.028
small gtpase mediated signal transductionGO:0007264780.028
regulation of cell activationGO:00508651250.027
regulation of cytokine productionGO:00018172320.026
cellular response to xenobiotic stimulusGO:0071466290.026
positive regulation of cell deathGO:00109422630.026
antigen processing and presentation via mhc class ibGO:000247530.026
regulation of systemic arterial blood pressure by circulatory renin angiotensinGO:000199140.026
regulation of anatomical structure morphogenesisGO:00226032860.026
blastocyst developmentGO:000182430.025
regulation of vasculature developmentGO:1901342970.025
immune system developmentGO:00025201950.025
leukocyte activationGO:00453211640.025
regulation of protein localizationGO:00328802960.025
regulation of natural killer cell mediated cytotoxicityGO:0042269160.025
positive regulation of immune responseGO:00507781590.025
protein localization to plasma membraneGO:0072659930.025
purine nucleoside triphosphate catabolic processGO:00091463920.025
regulation of cellular response to stressGO:00801352440.024
detection of external biotic stimulusGO:0098581190.024
positive regulation of cellular catabolic processGO:00313312840.024
regulation of exocytosisGO:0017157460.024
rho protein signal transductionGO:0007266260.024
regulation of response to woundingGO:19030341010.024
negative regulation of apoptotic processGO:00430663160.024
regulation of glycoprotein metabolic processGO:1903018190.024
membrane protein proteolysisGO:0033619380.023
regulation of cell killingGO:0031341220.023
regulation of t cell activation via t cell receptor contact with antigen bound to mhc molecule on antigen presenting cellGO:200118820.022
endomembrane system organizationGO:00102561960.022
maintenance of locationGO:00512351120.022
cellular response to hydrogen peroxideGO:0070301370.022
positive regulation of defense responseGO:0031349870.022
response to oxygen containing compoundGO:19017003690.022
positive regulation of immune system processGO:00026842830.022
midbrain developmentGO:0030901450.022
transition metal ion transportGO:0000041230.022
positive regulation of cellular component organizationGO:00511303760.021
i kappab kinase nf kappab signalingGO:00072491660.021
secretionGO:00469032540.021
positive regulation of gtp catabolic processGO:00331261660.021
negative regulation of developmental processGO:00510932470.021
purine ribonucleoside metabolic processGO:00461284370.021
nucleoside phosphate catabolic processGO:19012924120.021
adult locomotory behaviorGO:000834410.021
negative regulation of locomotionGO:00400131180.021
regulation of blood coagulationGO:0030193420.021
embryo developmentGO:00097901230.021
positive regulation of cellular component movementGO:00512721810.021
positive regulation of integrin mediated signaling pathwayGO:200104620.020
negative regulation of blood pressureGO:004577630.020
positive regulation of transmembrane transportGO:0034764410.020
wound healingGO:00420601150.020
regulation of nucleotide metabolic processGO:00061402690.020
cell type specific apoptotic processGO:00972851250.020
negative regulation of cellular component movementGO:00512711060.020
osteoclast developmentGO:003603520.020
protein oligomerizationGO:00512591730.020
neutrophil homeostasisGO:000178030.019
cellular response to organic cyclic compoundGO:00714071270.019
cellular protein catabolic processGO:00442572610.019
cellular response to steroid hormone stimulusGO:0071383370.019
positive regulation of cysteine type endopeptidase activityGO:2001056790.019
cellular response to oxidative stressGO:0034599850.019
positive regulation of developmental processGO:00510943140.019
negative regulation of wnt signaling pathwayGO:0030178690.018
biological adhesionGO:00226103310.018
vacuole organizationGO:0007033440.018
protein heterooligomerizationGO:0051291160.018
cardiovascular system developmentGO:00723582620.018
negative regulation of cellular component organizationGO:00511292350.018
regulation of endocytosisGO:0030100720.018
negative regulation of catabolic processGO:00098951040.018
cellular response to reactive oxygen speciesGO:0034614500.018
gtp catabolic processGO:00061842370.018
positive regulation of cell migrationGO:00303351720.017
regulation of serine type endopeptidase activityGO:190000320.017
growthGO:00400072020.017
cellular protein complex assemblyGO:00436231880.017
protein homooligomerizationGO:00512601000.017
purine ribonucleoside triphosphate catabolic processGO:00092073910.017
integrin mediated signaling pathwayGO:0007229320.017
adaptive immune responseGO:0002250490.017
regulation of autophagyGO:0010506520.017
regulation of epithelial cell migrationGO:0010632930.017
enzyme linked receptor protein signaling pathwayGO:00071673030.016
negative regulation of cell differentiationGO:00455961710.016
purine ribonucleoside triphosphate metabolic processGO:00092054110.016
glial cell migrationGO:000834740.016
regulation of mapk cascadeGO:00434082620.016
cellular amino acid metabolic processGO:00065201160.016
neuromuscular process controlling balanceGO:005088570.016
endocytosisGO:00068971590.015
ras protein signal transductionGO:0007265730.015
membrane assemblyGO:0071709100.015
negative regulation of transportGO:00510511760.015
regulation of lymphocyte activationGO:00512491030.015
positive regulation of hydrolase activityGO:00513453310.015
positive regulation of lymphocyte activationGO:0051251730.015
purine containing compound catabolic processGO:00725234110.015
nucleic acid phosphodiester bond hydrolysisGO:00903051020.015
defense response to gram positive bacteriumGO:0050830290.015
purine nucleoside catabolic processGO:00061523980.015
ganglioside metabolic processGO:000157370.015
granulocyte chemotaxisGO:0071621370.015
lipid catabolic processGO:0016042840.015
negative regulation of protein transportGO:0051224750.015
positive regulation of leukocyte activationGO:0002696800.014
negative regulation of interleukin 8 secretionGO:200048320.014
regulation of cell adhesionGO:00301551660.014
positive regulation of proteolysisGO:00458621420.014
posttranscriptional regulation of gene expressionGO:00106082130.014
monovalent inorganic cation transportGO:00156721280.014
entry into cell of other organism involved in symbiotic interactionGO:0051806250.014
regulation of proteasomal protein catabolic processGO:0061136870.014
regulation of blood pressureGO:0008217300.014
regulation of epithelial cell proliferationGO:00506781130.014
epidermis developmentGO:0008544590.014
immune response regulating cell surface receptor signaling pathwayGO:0002768510.014
positive regulation of vesicle fusionGO:003134040.014
circadian sleep wake cycle processGO:002241020.014
activation of cysteine type endopeptidase activityGO:0097202570.014
negative regulation of apoptotic signaling pathwayGO:2001234970.014
regulation of serine type peptidase activityGO:190257120.014
regulation of innate immune responseGO:0045088970.014
positive regulation of nucleotide catabolic processGO:00308131850.013
cytoplasmic transportGO:00164823790.013
cellular response to growth factor stimulusGO:00713631970.013
energy homeostasisGO:009700930.013
agingGO:0007568660.013
regulation of protein stabilityGO:0031647870.013
regulation of membrane potentialGO:0042391950.013
positive regulation of nucleoside metabolic processGO:00459791860.013
proteasomal protein catabolic processGO:00104981760.013
sleepGO:003043120.013
regulation of ras gtpase activityGO:00323181280.013
cellular ion homeostasisGO:00068731680.013
positive regulation of gtpase activityGO:00435471660.013
protein localization to organelleGO:00333652800.013
cellular ketone metabolic processGO:0042180800.013
leukocyte migration involved in inflammatory responseGO:000252320.013
positive regulation of i kappab kinase nf kappab signalingGO:00431231320.013
cytokine secretionGO:0050663640.013
purine ribonucleoside catabolic processGO:00461303980.013
female pregnancyGO:0007565170.013
circulatory system processGO:00030131130.012
positive regulation of leukocyte degranulationGO:004330230.012
natural killer cell mediated immunityGO:0002228230.012
regulation of establishment of protein localizationGO:00702012420.012
regulation of gtp catabolic processGO:00331241800.012
cellular response to oxygen containing compoundGO:19017012760.012
multi organism reproductive processGO:0044703540.012
positive regulation of apoptotic processGO:00430652460.012
immune response regulating signaling pathwayGO:0002764970.012
extracellular matrix disassemblyGO:0022617160.012
lymphocyte mediated immunityGO:0002449480.012
cellular lipid catabolic processGO:0044242650.012
cell killingGO:0001906340.012
regulation of t cell activationGO:0050863770.012
rhythmic behaviorGO:000762220.012
regulation of proteolysis involved in cellular protein catabolic processGO:1903050910.012
interleukin 1 productionGO:0032612260.012
cellular cation homeostasisGO:00300031630.012
cellular response to extracellular stimulusGO:0031668720.012
positive regulation of endopeptidase activityGO:0010950840.012
inflammatory responseGO:0006954790.012
cell morphogenesisGO:00009022960.012
cellular chemical homeostasisGO:00550821800.012
cell activation involved in immune responseGO:0002263300.011
actin filament based movementGO:0030048170.011
membrane buddingGO:0006900280.011
cellular response to mechanical stimulusGO:0071260390.011
dna replicationGO:00062601160.011
developmental process involved in reproductionGO:0003006660.011
regulation of camp metabolic processGO:0030814520.011
regulation of nucleotide catabolic processGO:00308112050.011
positive regulation of purine nucleotide metabolic processGO:19005442270.011
response to starvationGO:0042594590.011
peptidyl glutamic acid modificationGO:001820040.011
leukocyte activation involved in immune responseGO:0002366300.011
chemical homeostasis within a tissueGO:004887530.011
cellular response to glucocorticoid stimulusGO:007138540.011
positive regulation of lymphocyte differentiationGO:0045621130.011
n acetylglucosamine metabolic processGO:000604470.011
transmembrane transportGO:00550853990.011
lysosome organizationGO:0007040240.011
positive regulation of cell proliferationGO:00082843010.011
basement membrane disassemblyGO:003476920.010
antigen processing and presentation of exogenous antigenGO:001988440.010
negative regulation of intracellular signal transductionGO:19025321830.010
multicellular organismal catabolic processGO:0044243120.010
circadian behaviorGO:004851220.010
protein heterotetramerizationGO:005129030.010
embryo implantationGO:000756670.010
positive regulation of cell differentiationGO:00455972110.010
wnt signaling pathwayGO:00160551560.010
nucleoside triphosphate metabolic processGO:00091414220.010
response to organic cyclic compoundGO:00140702040.010
regulation of stress activated mapk cascadeGO:0032872840.010
positive regulation of necrotic cell deathGO:001094040.010
purine nucleoside triphosphate metabolic processGO:00091444120.010
response to fungusGO:000962040.010
sulfur compound metabolic processGO:00067901010.010

NPC2 disease predictions

DiseaseDO term IDSizeProbabilityFunc Analog Org
inherited metabolic disorderDOID:6552420.979
disease of metabolismDOID:00146672950.979
lysosomal storage diseaseDOID:3211470.979
cerebral degenerationDOID:1443160.434
nervous system diseaseDOID:8634310.434
brain diseaseDOID:936730.434
central nervous system diseaseDOID:3311860.434
lipid storage diseaseDOID:9455280.430
epilepsy syndromeDOID:1826410.181
variable age at onset electroclinical syndromeDOID:005070680.181
electroclinical syndromeDOID:0050701320.181
acquired metabolic diseaseDOID:0060158580.142
eye diseaseDOID:56141490.080
eye and adnexa diseaseDOID:14921500.080
sensory system diseaseDOID:00501552030.080
retinal diseaseDOID:56791180.051
progressive myoclonus epilepsyDOID:89180.036
neuronal ceroid lipofuscinosisDOID:14503110.028
degeneration of macula and posterior poleDOID:2007170.026
macular degenerationDOID:4448200.026
retinal degenerationDOID:8466890.026
age related macular degenerationDOID:10871170.026
leukodystrophyDOID:1057980.018
sphingolipidosisDOID:1927140.009
immune system diseaseDOID:29141550.002
lymphatic system diseaseDOID:75120.001
histiocytosisDOID:340540.001
non langerhans cell histiocytosisDOID:433040.001
niemann pick diseaseDOID:1450430.000