Homo sapiens

43 known processes

USH1C

Usher syndrome 1C (autosomal recessive, severe)

(Aliases: ush1cpst,PDZ-73,PDZ-45,PDZ-73/NY-CO-38,DFNB18,NY-CO-38,PDZ73,NY-CO-37,AIE-75)

USH1C biological process predictions


Filter by process size:
Biological processGO term IDProcess sizeProbabilityFunc Analog Org
equilibrioceptionGO:005095760.987
sensory perception of light stimulusGO:0050953350.566
inner ear morphogenesisGO:004247240.374
Mouse
system processGO:00030083490.332
retina homeostasisGO:0001895420.259
sensory perception of mechanical stimulusGO:0050954370.240
neurological system processGO:00508771630.231
g protein coupled receptor signaling pathwayGO:00071862070.180
biological adhesionGO:00226103310.156
cell adhesionGO:00071553250.149
metal ion transportGO:00300012720.127
cation transportGO:00068123310.112
sensory perceptionGO:00076001030.106
divalent metal ion transportGO:00708381520.101
epithelium developmentGO:00604292270.096
Mouse
post embryonic developmentGO:000979120.095
vesicle mediated transportGO:00161923710.095
anatomical structure homeostasisGO:00602491000.094
lipid metabolic processGO:00066293810.092
transmembrane transportGO:00550853990.087
tissue homeostasisGO:0001894630.085
cell projection organizationGO:00300302520.081
purine ribonucleoside triphosphate catabolic processGO:00092073910.078
small gtpase mediated signal transductionGO:0007264780.078
actin filament based processGO:00300292240.078
Mouse
cellular lipid metabolic processGO:00442553030.076
photoreceptor cell maintenanceGO:0045494130.074
nervous system developmentGO:00073992930.072
Mouse
cellular metal ion homeostasisGO:00068751460.070
single organism cellular localizationGO:19025803320.068
purine nucleoside triphosphate catabolic processGO:00091463920.068
actin filament based movementGO:0030048170.066
metal ion homeostasisGO:00550651690.065
neuron differentiationGO:00301821380.065
Mouse
hair cell differentiationGO:003531520.060
Mouse
nucleotide catabolic processGO:00091664080.060
cellular homeostasisGO:00197251960.059
cellular ketone metabolic processGO:0042180800.057
anion transportGO:00068201610.056
positive regulation of cellular component organizationGO:00511303760.056
generation of neuronsGO:00486991520.055
Mouse
cellular divalent inorganic cation homeostasisGO:00725031280.055
small molecule biosynthetic processGO:00442831570.055
ribonucleoside triphosphate catabolic processGO:00092033910.052
locomotory behaviorGO:000762610.052
cellular amino acid metabolic processGO:00065201160.052
negative regulation of growthGO:0045926970.052
nucleoside triphosphate catabolic processGO:00091433940.052
regulation of growthGO:00400081650.051
secretion by cellGO:00329402260.051
cellular amine metabolic processGO:0044106410.051
regulation of transferase activityGO:00513383550.051
neuromuscular process controlling balanceGO:005088570.050
muscle contractionGO:0006936730.050
purine nucleoside triphosphate metabolic processGO:00091444120.047
regulation of cellular amine metabolic processGO:0033238110.047
regulation of protein localizationGO:00328802960.046
ion homeostasisGO:00508012300.046
nucleoside triphosphate metabolic processGO:00091414220.046
peripheral nervous system developmentGO:000742220.046
cytoplasmic transportGO:00164823790.045
ras protein signal transductionGO:0007265730.044
membrane organizationGO:00610242920.044
adult locomotory behaviorGO:000834410.044
multicellular organismal homeostasisGO:0048871670.043
amine metabolic processGO:0009308440.042
cardiac muscle cell contractionGO:008600340.042
organic anion transportGO:00157111030.042
organ morphogenesisGO:00098871470.042
Mouse
sensory organ developmentGO:0007423520.041
Mouse
negative regulation of catalytic activityGO:00430863350.041
cation homeostasisGO:00550801890.041
ion transmembrane transportGO:00342203380.039
single organism cell adhesionGO:00986021790.039
negative regulation of cellular component organizationGO:00511292350.039
post embryonic organ developmentGO:004856910.038
regulation of cellular ketone metabolic processGO:0010565500.038
protein localization to organelleGO:00333652800.038
purine ribonucleoside metabolic processGO:00461284370.038
single organism membrane organizationGO:00448022680.038
regulation of kinase activityGO:00435493140.038
multicellular organismal agingGO:001025930.038
regulation of nucleotide metabolic processGO:00061402690.038
purine ribonucleotide catabolic processGO:00091544040.037
regulation of ion transportGO:00432691890.037
positive regulation of phosphorylationGO:00423273940.037
rho protein signal transductionGO:0007266260.037
purine nucleoside catabolic processGO:00061523980.037
positive regulation of protein phosphorylationGO:00019343130.036
negative regulation of cell proliferationGO:00082852280.036
nucleoside catabolic processGO:00091644080.036
regulation of cellular amino acid metabolic processGO:000652160.036
glycosyl compound catabolic processGO:19016584130.035
purine containing compound catabolic processGO:00725234110.035
calcium ion transportGO:00068161470.035
organonitrogen compound biosynthetic processGO:19015662000.035
single organism carbohydrate metabolic processGO:00447231930.035
positive regulation of cellular amine metabolic processGO:003324070.035
divalent inorganic cation homeostasisGO:00725071360.034
neurogenesisGO:00220081690.034
Mouse
determination of adult lifespanGO:000834020.034
actin cytoskeleton organizationGO:00300362070.034
Mouse
purine ribonucleoside triphosphate metabolic processGO:00092054110.034
neuromuscular processGO:0050905150.034
regulation of protein transportGO:00512232130.032
negative regulation of phosphate metabolic processGO:00459362670.032
response to external biotic stimulusGO:00432072610.031
regulation of cell growthGO:00015581350.031
single organismal cell cell adhesionGO:00163371480.030
regulation of cytokine productionGO:00018172320.030
regulation of cellular component movementGO:00512703340.030
signal transduction by phosphorylationGO:00230142970.030
positive regulation of cellular amino acid metabolic processGO:004576430.030
cellular cation homeostasisGO:00300031630.029
regulation of secretionGO:00510461940.029
female gamete generationGO:000729220.028
intracellular protein transportGO:00068862700.028
response to abiotic stimulusGO:00096283360.028
cellular component morphogenesisGO:00329893140.028
carbohydrate derivative biosynthetic processGO:19011372070.027
regulation of cellular component biogenesisGO:00440872810.027
divalent inorganic cation transportGO:00725111580.027
negative regulation of transportGO:00510511760.027
nucleoside phosphate catabolic processGO:19012924120.027
cytosolic calcium ion homeostasisGO:0051480890.027
chemical homeostasisGO:00488783060.027
sodium ion transmembrane transportGO:0035725590.026
epithelial cell developmentGO:0002064340.026
regulation of vesicle mediated transportGO:00606271300.026
nitrogen compound transportGO:00717051910.026
cellular response to histamineGO:007142030.025
purine nucleotide catabolic processGO:00061954050.025
carbohydrate metabolic processGO:00059752070.025
regulation of cell projection organizationGO:00313441070.025
gtp catabolic processGO:00061842370.025
establishment or maintenance of apical basal cell polarityGO:003508820.024
cell morphogenesisGO:00009022960.024
cell growthGO:00160491600.024
response to nitrogen compoundGO:19016981840.024
organophosphate catabolic processGO:00464344300.024
cellular ion homeostasisGO:00068731680.024
detection of mechanical stimulusGO:005098240.024
protein maturationGO:00516042330.024
dephosphorylationGO:00163112090.024
regulation of intracellular transportGO:00323861950.023
regulation of gtp catabolic processGO:00331241800.023
memoryGO:000761330.023
actin mediated cell contractionGO:0070252120.023
glial cell migrationGO:000834740.023
positive regulation of hydrolase activityGO:00513453310.023
establishment of tissue polarityGO:000716430.023
positive regulation of purine nucleotide metabolic processGO:19005442270.023
sensory perception of soundGO:0007605370.023
regulation of cell differentiationGO:00455953930.023
negative regulation of cellular protein metabolic processGO:00322693530.023
sensory organ morphogenesisGO:0090596210.023
Mouse
epithelial cell migrationGO:00106311190.023
neuromuscular junction developmentGO:000752830.022
negative regulation of cellular amine metabolic processGO:003323930.022
morphogenesis of a polarized epitheliumGO:000173830.022
blastoderm segmentationGO:000735020.022
segmentationGO:003528240.022
microtubule based processGO:00070172100.022
positive regulation of transportGO:00510503360.022
regulation of actin filament based processGO:00329701410.022
anterior posterior axis specificationGO:000994820.022
immune responseGO:00069553070.022
nuclear transportGO:00511691790.021
regulation of mapk cascadeGO:00434082620.021
positive regulation of immune system processGO:00026842830.021
detection of mechanical stimulus involved in sensory perceptionGO:005097410.021
ribonucleoside monophosphate metabolic processGO:00091611870.021
oogenesisGO:004847720.021
positive regulation of nucleotide metabolic processGO:00459812300.021
regulation of lipid metabolic processGO:0019216960.021
response to other organismGO:00517072610.021
calcium dependent cell cell adhesion via plasma membrane cell adhesion moleculesGO:001633920.021
positive regulation of acrosome reactionGO:200034440.021
cation transmembrane transportGO:00986552380.021
negative regulation of protein modification processGO:00314002000.020
regulation of protein kinase activityGO:00458592890.020
positive regulation of transferase activityGO:00513472270.020
negative regulation of cellular amino acid metabolic processGO:004576320.020
negative regulation of phosphorus metabolic processGO:00105632670.020
endocytosisGO:00068971590.020
regulation of dephosphorylationGO:0035303960.020
oxidation reduction processGO:00551143960.020
regulation of hormone levelsGO:00108171250.020
response to drugGO:0042493810.020
purine ribonucleoside monophosphate metabolic processGO:00091671860.020
cellular protein complex assemblyGO:00436231880.020
establishment of protein localization to membraneGO:00901501210.020
protein targetingGO:00066051870.020
glycerolipid metabolic processGO:00464861070.020
regulation of nucleoside metabolic processGO:00091182090.020
negative regulation of cell growthGO:0030308830.020
positive regulation of protein kinase activityGO:00458601900.020
regulation of acrosome reactionGO:006004640.019
response to lipidGO:00339932060.019
organic hydroxy compound biosynthetic processGO:1901617710.019
mitotic cell cycle processGO:19030472860.019
inner ear developmentGO:004883980.019
Mouse
detection of stimulusGO:0051606850.019
positive regulation of catabolic processGO:00098963100.019
purine ribonucleoside catabolic processGO:00461303980.019
guanosine containing compound metabolic processGO:19010682440.019
myeloid cell differentiationGO:00300991170.019
embryonic morphogenesisGO:0048598850.019
Mouse
cellular response to endogenous stimulusGO:00714953360.019
establishment of protein localization to organelleGO:00725941720.019
inorganic anion transmembrane transportGO:0098661470.019
activation of protein kinase activityGO:0032147900.019
regulation of purine nucleotide catabolic processGO:00331212050.019
protein importGO:00170381300.018
epithelial cell differentiationGO:00308551410.018
Mouse
negative regulation of protein metabolic processGO:00512483910.018
establishment or maintenance of epithelial cell apical basal polarityGO:004519710.018
establishment of planar polarityGO:000173630.018
protein ubiquitinationGO:00165673140.018
ameboidal type cell migrationGO:00016671350.018
cellular chemical homeostasisGO:00550821800.018
regulation of purine nucleotide metabolic processGO:19005422640.018
nucleocytoplasmic transportGO:00069131760.018
wnt signaling pathwayGO:00160551560.018
regulation of establishment of protein localizationGO:00702012420.018
positive regulation of cell proliferationGO:00082843010.018
taxisGO:00423301570.018
regulation of apoptotic signaling pathwayGO:20012331750.018
growthGO:00400072020.018
ribonucleoside triphosphate metabolic processGO:00091994120.018
response to hormoneGO:00097251750.018
regulation of small gtpase mediated signal transductionGO:00510561560.017
secretionGO:00469032540.017
cellular macromolecule catabolic processGO:00442653800.017
ribonucleotide catabolic processGO:00092614050.017
defense responseGO:00069523150.017
regulation of phosphatase activityGO:0010921810.017
cellular macromolecular complex assemblyGO:00346223240.017
cellular amide metabolic processGO:0043603690.017
calcium ion homeostasisGO:00550741220.017
inorganic ion transmembrane transportGO:00986602310.017
endomembrane system organizationGO:00102561960.017
response to biotic stimulusGO:00096072760.017
ribonucleoside catabolic processGO:00424544060.017
protein oligomerizationGO:00512591730.017
detection of stimulus involved in sensory perceptionGO:0050906430.017
inorganic cation transmembrane transportGO:00986621940.017
cellular calcium ion homeostasisGO:00068741170.017
tissue migrationGO:00901301190.017
steroid metabolic processGO:0008202940.017
regulation of cell cycleGO:00517263930.017
regulation of proteolysisGO:00301622930.016
cell developmentGO:00484683280.016
regulation of secretion by cellGO:19035301770.016
response to oxygen containing compoundGO:19017003690.016
microtubule cytoskeleton organizationGO:00002261760.016
negative regulation of phosphorylationGO:00423261740.016
atp catabolic processGO:00062001570.016
negative regulation of cell deathGO:00605483450.016
regulation of intracellular protein transportGO:00331571230.016
positive regulation of cellular catabolic processGO:00313312840.015
rhythmic behaviorGO:000762220.015
cell morphogenesis involved in differentiationGO:00009041440.015
guanosine containing compound catabolic processGO:19010692390.015
gtp metabolic processGO:00460392390.015
regulation of nucleotide catabolic processGO:00308112050.015
epithelial cell proliferationGO:00506731280.015
positive regulation of purine nucleotide catabolic processGO:00331231850.015
nucleotide biosynthetic processGO:00091651090.015
negative regulation of intracellular signal transductionGO:19025321830.015
embryo developmentGO:00097901230.015
Mouse
startle responseGO:000196430.015
single organism nuclear importGO:19025931040.015
negative regulation of programmed cell deathGO:00430693210.015
cilium morphogenesisGO:0060271750.015
motor neuron axon guidanceGO:000804520.015
negative regulation of transferase activityGO:00513481240.015
establishment of monopolar cell polarityGO:006116210.015
protein localization to nucleusGO:00345041360.015
modification dependent protein catabolic processGO:00199412090.015
positive regulation of gtpase activityGO:00435471660.015
regulation of cell motilityGO:20001452990.015
regulation of membrane potentialGO:0042391950.015
cellular response to nitrogen compoundGO:19016991440.015
negative regulation of phosphatase activityGO:0010923610.015
photoreceptor cell differentiationGO:004653020.015
protein modification by small protein conjugationGO:00324463420.015
transmembrane receptor protein tyrosine kinase signaling pathwayGO:00071691810.015
anterior posterior axis specification embryoGO:000859520.015
neuroblast proliferationGO:000740540.015
ribonucleotide biosynthetic processGO:0009260810.015
protein localization to membraneGO:00726571600.014
regulation of homeostatic processGO:00328441210.014
response to cytokineGO:00340972320.014
phospholipid metabolic processGO:0006644990.014
hindbrain developmentGO:003090230.014
actin filament organizationGO:00070151280.014
Mouse
tissue morphogenesisGO:0048729960.014
protein catabolic processGO:00301633250.014
hormone metabolic processGO:0042445610.014
protein processingGO:00164852260.014
regulation of protein targetingGO:1903533910.014
cellular protein catabolic processGO:00442572610.014
positive regulation of cell deathGO:00109422630.014
regulation of multi organism processGO:00439001570.014
regulation of anatomical structure sizeGO:00900661010.014
endosomal transportGO:00161971290.014
cellular response to lipidGO:00713961270.014
organic hydroxy compound metabolic processGO:19016151470.014
positive regulation of mapk cascadeGO:00434101900.014
proteolysis involved in cellular protein catabolic processGO:00516032440.014
positive regulation of kinase activityGO:00336742040.014
circadian behaviorGO:004851220.014
tonic smooth muscle contractionGO:001482030.014
regulation of cell cycle processGO:00105642660.014
response to virusGO:00096151260.014
positive regulation of apoptotic processGO:00430652460.014
tripartite regional subdivisionGO:000735120.014
cell projection assemblyGO:00300311260.014
mitotic cell cycleGO:00002783260.013
positive regulation of nucleotide catabolic processGO:00308131850.013
regulation of cell morphogenesisGO:00226041530.013
regulation of protein complex assemblyGO:00432541470.013
sensory perception of smellGO:000760820.013
positive regulation of cell migrationGO:00303351720.013
response to organonitrogen compoundGO:00102431560.013
positive regulation of cellular component biogenesisGO:00440891580.013
morphogenesis of embryonic epitheliumGO:001633140.013
regulation of ras gtpase activityGO:00323181280.013
muscle system processGO:0003012810.013
regulation of ras protein signal transductionGO:00465781550.013
hormone secretionGO:0046879650.013
organelle assemblyGO:00709251760.013
behaviorGO:00076101120.013
lipid transportGO:0006869900.013
regulation of actin cytoskeleton organizationGO:00329561160.013
regulation of gtpase activityGO:00430871800.013
neuron developmentGO:00486661130.013
sulfur compound metabolic processGO:00067901010.013
ear developmentGO:0043583140.013
Mouse
oocyte developmentGO:004859910.013
cell cell signalingGO:00072671550.013
multicellular organismal signalingGO:0035637340.013
enzyme linked receptor protein signaling pathwayGO:00071673030.013
atp metabolic processGO:00460341760.013
histone modificationGO:00165702510.013
positive regulation of programmed cell deathGO:00430682490.013
multi organism cellular processGO:00447641560.013
stem cell divisionGO:001714520.013
negative regulation of protein phosphorylationGO:00019331400.013
organic acid transportGO:0015849650.013
embryonic organ developmentGO:0048568360.013
Mouse
cardiac muscle contractionGO:0060048340.013
cell type specific apoptotic processGO:00972851250.013
purine nucleoside monophosphate catabolic processGO:00091281580.013
positive regulation of cysteine type endopeptidase activityGO:2001056790.012
peptidyl tyrosine phosphorylationGO:00181081700.012
cellular response to cytokine stimulusGO:00713451810.012
oocyte differentiationGO:000999420.012
apoptotic signaling pathwayGO:00971902680.012
type b pancreatic cell developmentGO:000332340.012
protein targeting to nucleusGO:00447441040.012
negative regulation of cell cycleGO:00457861930.012
purine containing compound biosynthetic processGO:0072522880.012
monosaccharide metabolic processGO:0005996740.012
cellular response to oxygen containing compoundGO:19017012760.012
mapk cascadeGO:00001652880.012
cell projection morphogenesisGO:00488581290.012
regulation of protein catabolic processGO:00421761550.012
response to organic cyclic compoundGO:00140702040.012
regulation of cytoplasmic transportGO:19036491490.012
acrosome reactionGO:000734060.012
response to bacteriumGO:00096171440.012
tachykinin receptor signaling pathwayGO:000721730.012
epithelium migrationGO:00901321190.012
nucleoside monophosphate metabolic processGO:00091231910.012
posttranscriptional regulation of gene expressionGO:00106082130.012
regulation of hormone secretionGO:0046883570.012
circulatory system processGO:00030131130.012
positive regulation of organelle organizationGO:00106381950.012
anion transmembrane transportGO:0098656760.012
glycerophospholipid metabolic processGO:0006650840.012
ectodermal placode formationGO:006078810.012
regulation of protein import into nucleusGO:0042306780.012
monocarboxylic acid biosynthetic processGO:0072330670.012
regulation of transmembrane transportGO:00347621390.012
regulation of peptidase activityGO:00525471800.011
nuclear importGO:00511701060.011
vasculature developmentGO:00019441810.011
protein autophosphorylationGO:00467771230.011
regulation of response to external stimulusGO:00321012220.011
positive regulation of ras gtpase activityGO:00323201170.011
cellular response to dna damage stimulusGO:00069743790.011
modification dependent macromolecule catabolic processGO:00436322120.011
lipid biosynthetic processGO:00086101770.011
regulation of cell adhesionGO:00301551660.011
regulation of cellular component sizeGO:0032535820.011
regulation of metal ion transportGO:00109591200.011
cellular response to external stimulusGO:00714961110.011
regulation of protein serine threonine kinase activityGO:00719001790.011
organophosphate biosynthetic processGO:00904071630.011
regulation of nucleocytoplasmic transportGO:0046822980.011
actin polymerization or depolymerizationGO:0008154560.011
regulation of purine nucleotide biosynthetic processGO:1900371500.011
regulation of protein stabilityGO:0031647870.011
organelle localizationGO:0051640840.011
interspecies interaction between organismsGO:00444191560.011
pancreatic a cell differentiationGO:000331010.011
regulation of rho protein signal transductionGO:0035023790.011
negative regulation of apoptotic processGO:00430663160.011
regulation of cell migrationGO:00303342890.011
chloride transportGO:0006821410.011
plasma membrane organizationGO:00070091150.011
embryonic epithelial tube formationGO:000183840.011
fatty acid metabolic processGO:00066311150.011
positive regulation of ion transportGO:0043270870.011
regulation of immune responseGO:00507762010.011
negative regulation of dephosphorylationGO:0035305630.011
visual behaviorGO:000763220.011
sensory perception of chemical stimulusGO:0007606380.011
positive regulation of immune responseGO:00507781590.011
cyclic purine nucleotide metabolic processGO:0052652600.011
morphogenesis of an epitheliumGO:0002009600.011
negative regulation of developmental processGO:00510932470.011
negative regulation of lipid metabolic processGO:0045833380.011
associative learningGO:000830610.011
positive regulation of protein transportGO:00512221350.011
organic acid biosynthetic processGO:0016053970.011
positive regulation of nucleoside metabolic processGO:00459791860.011
regulation of endopeptidase activityGO:00525481700.011
i kappab kinase nf kappab signalingGO:00072491660.011
cell part morphogenesisGO:00329901370.011
methylationGO:00322591060.011
regulation of dna metabolic processGO:00510521530.011
positive regulation of proteolysisGO:00458621420.011
alkaloid metabolic processGO:000982040.011
intrinsic apoptotic signaling pathwayGO:00971931270.010
regulation of cytoskeleton organizationGO:00514931770.010
astrocyte differentiationGO:004870840.010
midgut developmentGO:000749410.010
sodium ion transportGO:0006814610.010
positive regulation of cellular component movementGO:00512721810.010
regenerationGO:003109940.010
negative regulation of hydrolase activityGO:00513461820.010
chemotaxisGO:00069351570.010
monovalent inorganic cation transportGO:00156721280.010
regulation of nucleotide biosynthetic processGO:0030808500.010
axis elongationGO:000340140.010
ectodermal placode developmentGO:007169610.010
inorganic anion transportGO:0015698600.010
establishment or maintenance of monopolar cell polarityGO:006133910.010
somatic stem cell maintenanceGO:003501940.010
glycoprotein biosynthetic processGO:0009101910.010
exocytosisGO:0006887710.010
positive regulation of cytokine productionGO:00018191670.010
artery smooth muscle contractionGO:001482430.010
cdc42 protein signal transductionGO:003248840.010
maintenance of locationGO:00512351120.010
regulation of rho gtpase activityGO:0032319660.010

USH1C disease predictions

DiseaseDO term IDSizeProbabilityFunc Analog Org
usher syndromeDOID:0050439120.968
nervous system diseaseDOID:8634310.237
sensory system diseaseDOID:00501552030.237
auditory system diseaseDOID:2742530.075
eye and adnexa diseaseDOID:14921500.038
eye diseaseDOID:56141490.028
nonsyndromic deafnessDOID:0050563500.028
autosomal recessive nonsyndromic deafnessDOID:0050565330.028
central nervous system diseaseDOID:3311860.018
disease of cellular proliferationDOID:145661740.018
cancerDOID:1621670.017
organ system cancerDOID:00506861640.016
disease of metabolismDOID:00146672950.016
retinal diseaseDOID:56791180.014
neurodegenerative diseaseDOID:12891020.012