Homo sapiens

12 known processes

SCN4A

sodium channel, voltage-gated, type IV, alpha subunit

(Aliases: NAC1A,Nav1.4,Na(V)1.4,HYKPP,HOKPP2,HYPP,SkM1)

SCN4A biological process predictions


Filter by process size:
Biological processGO term IDProcess sizeProbabilityFunc Analog Org
muscle system processGO:0003012810.452
Human
muscle contractionGO:0006936730.397
Human
ion transmembrane transportGO:00342203380.376
Human
system processGO:00030083490.365
Human
transmembrane transportGO:00550853990.310
Human
inorganic ion transmembrane transportGO:00986602310.300
Human
cation transmembrane transportGO:00986552380.246
Human
cation transportGO:00068123310.232
Human Rat
cellular response to endogenous stimulusGO:00714953360.226
cellular amine metabolic processGO:0044106410.216
blood circulationGO:00080151130.209
Human
regulation of ion transmembrane transportGO:00347651320.173
Human
regulation of cellular amine metabolic processGO:0033238110.160
amine metabolic processGO:0009308440.158
regulation of cellular ketone metabolic processGO:0010565500.142
regulation of ion transportGO:00432691890.136
Human
metal ion transportGO:00300012720.124
Human Rat
cellular ketone metabolic processGO:0042180800.123
regulation of cellular amino acid metabolic processGO:000652160.123
heart contractionGO:0060047620.123
Human
striated muscle contractionGO:0006941520.120
Human
response to oxygen containing compoundGO:19017003690.118
regulation of transmembrane transportGO:00347621390.116
Human
circulatory system processGO:00030131130.102
Human
positive regulation of cellular amino acid metabolic processGO:004576430.100
regulation of system processGO:00440571010.094
Human
chemical homeostasisGO:00488783060.094
Human
cell developmentGO:00484683280.089
actin filament based movementGO:0030048170.086
cellular amino acid metabolic processGO:00065201160.083
mapk cascadeGO:00001652880.082
heart processGO:0003015620.080
Human
inorganic cation transmembrane transportGO:00986621940.079
Human
secretionGO:00469032540.078
cellular chemical homeostasisGO:00550821800.074
ion homeostasisGO:00508012300.073
Human
monovalent inorganic cation transportGO:00156721280.072
Human Rat
circulatory system developmentGO:00723592620.071
biological adhesionGO:00226103310.070
response to abiotic stimulusGO:00096283360.065
positive regulation of cellular amine metabolic processGO:003324070.063
calcium ion transportGO:00068161470.061
cellular homeostasisGO:00197251960.059
cardiovascular system developmentGO:00723582620.058
muscle structure developmentGO:0061061980.056
regulation of cellular component biogenesisGO:00440872810.055
post embryonic developmentGO:000979120.055
cellular component morphogenesisGO:00329893140.055
cell cell signalingGO:00072671550.055
signal transduction by phosphorylationGO:00230142970.053
negative regulation of multicellular organismal processGO:00512413170.053
purine containing compound catabolic processGO:00725234110.052
divalent metal ion transportGO:00708381520.052
cellular response to organic cyclic compoundGO:00714071270.052
positive regulation of cellular component organizationGO:00511303760.052
positive regulation of developmental processGO:00510943140.052
cellular ion homeostasisGO:00068731680.052
negative regulation of protein metabolic processGO:00512483910.051
organonitrogen compound biosynthetic processGO:19015662000.051
negative regulation of cellular protein metabolic processGO:00322693530.051
regulation of muscle system processGO:0090257530.050
Human
regulation of muscle contractionGO:0006937450.050
Human
cation homeostasisGO:00550801890.050
organ morphogenesisGO:00098871470.050
negative regulation of transportGO:00510511760.049
negative regulation of phosphorus metabolic processGO:00105632670.049
striated muscle tissue developmentGO:0014706590.048
regulation of cellular component movementGO:00512703340.048
anatomical structure formation involved in morphogenesisGO:00486462840.048
positive regulation of phosphorylationGO:00423273940.048
cyclic nucleotide metabolic processGO:0009187820.047
negative regulation of catalytic activityGO:00430863350.047
cellular response to nitrogen compoundGO:19016991440.046
regulation of metal ion transportGO:00109591200.046
neurological system processGO:00508771630.046
regulation of blood circulationGO:1903522590.046
Human
nucleoside phosphate catabolic processGO:19012924120.045
regulation of transferase activityGO:00513383550.045
single organism cellular localizationGO:19025803320.045
multicellular organismal agingGO:001025930.045
cardiac muscle contractionGO:0060048340.045
Human
regulation of hormone levelsGO:00108171250.045
regulation of cell differentiationGO:00455953930.045
ribonucleoside catabolic processGO:00424544060.044
cellular cation homeostasisGO:00300031630.044
intracellular protein transportGO:00068862700.044
carbohydrate derivative biosynthetic processGO:19011372070.044
actin mediated cell contractionGO:0070252120.044
response to hormoneGO:00097251750.043
secretion by cellGO:00329402260.043
response to organonitrogen compoundGO:00102431560.043
segmentationGO:003528240.042
regulation of mapk cascadeGO:00434082620.042
divalent inorganic cation transportGO:00725111580.041
immune responseGO:00069553070.041
heart developmentGO:0007507950.041
nervous system developmentGO:00073992930.041
regulation of heart rateGO:0002027380.041
Human
protein localization to organelleGO:00333652800.041
nitrogen compound transportGO:00717051910.041
Rat
cell adhesionGO:00071553250.041
heart morphogenesisGO:0003007480.041
response to nitrogen compoundGO:19016981840.040
metal ion homeostasisGO:00550651690.040
cellular response to organonitrogen compoundGO:00714171240.040
divalent inorganic cation homeostasisGO:00725071360.040
membrane organizationGO:00610242920.039
cardiac muscle cell contractionGO:008600340.039
nucleoside phosphate biosynthetic processGO:19012931090.039
regulation of secretion by cellGO:19035301770.039
cell morphogenesisGO:00009022960.038
cytoplasmic transportGO:00164823790.038
regulation of locomotionGO:00400123290.038
actin filament based processGO:00300292240.037
hindbrain developmentGO:003090230.037
g protein coupled receptor signaling pathwayGO:00071862070.037
negative regulation of cellular amine metabolic processGO:003323930.037
purine ribonucleoside catabolic processGO:00461303980.037
nucleoside triphosphate metabolic processGO:00091414220.037
nucleoside catabolic processGO:00091644080.036
locomotory behaviorGO:000762610.036
purine nucleoside triphosphate catabolic processGO:00091463920.036
positive regulation of cytosolic calcium ion concentrationGO:0007204820.036
muscle tissue developmentGO:0060537620.036
regulation of cell cycleGO:00517263930.036
positive regulation of transportGO:00510503360.036
organophosphate biosynthetic processGO:00904071630.036
determination of adult lifespanGO:000834020.036
ras protein signal transductionGO:0007265730.035
single organism membrane organizationGO:00448022680.035
ribonucleoside triphosphate catabolic processGO:00092033910.035
regulation of proteolysisGO:00301622930.035
organophosphate catabolic processGO:00464344300.035
regulation of nucleotide metabolic processGO:00061402690.035
cellular response to oxygen containing compoundGO:19017012760.035
regulation of kinase activityGO:00435493140.034
detection of chemical stimulus involved in sensory perceptionGO:0050907330.034
ribonucleotide catabolic processGO:00092614050.034
cellular calcium ion homeostasisGO:00068741170.033
purine ribonucleotide catabolic processGO:00091544040.033
regulation of protein transportGO:00512232130.033
response to organic cyclic compoundGO:00140702040.033
cellular divalent inorganic cation homeostasisGO:00725031280.033
positive regulation of catabolic processGO:00098963100.033
regulation of protein kinase activityGO:00458592890.033
ribonucleoside monophosphate metabolic processGO:00091611870.033
negative regulation of phosphate metabolic processGO:00459362670.032
positive regulation of cell deathGO:00109422630.032
purine nucleotide catabolic processGO:00061954050.032
regulation of anatomical structure morphogenesisGO:00226032860.032
positive regulation of cell proliferationGO:00082843010.032
ribonucleoside triphosphate metabolic processGO:00091994120.032
regulation of membrane potentialGO:0042391950.032
Human
response to lipidGO:00339932060.032
oogenesisGO:004847720.032
mitotic cell cycleGO:00002783260.032
regulation of secretionGO:00510461940.032
purine nucleoside triphosphate metabolic processGO:00091444120.032
negative regulation of developmental processGO:00510932470.031
detection of chemical stimulus involved in sensory perception of smellGO:005091120.031
regulation of ion transmembrane transporter activityGO:0032412720.031
regulation of purine nucleotide metabolic processGO:19005422640.031
neuromuscular junction developmentGO:000752830.031
nucleoside triphosphate catabolic processGO:00091433940.031
female gamete generationGO:000729220.031
positive regulation of transferase activityGO:00513472270.031
cyclic nucleotide biosynthetic processGO:0009190610.031
regulation of cell motilityGO:20001452990.031
sodium ion transmembrane transportGO:0035725590.031
Human
regulation of calcium ion transportGO:0051924790.031
regulation of intracellular transportGO:00323861950.031
positive regulation of purine nucleotide metabolic processGO:19005442270.031
purine nucleoside catabolic processGO:00061523980.031
cytosolic calcium ion homeostasisGO:0051480890.030
cardiac muscle tissue developmentGO:0048738390.030
positive regulation of cellular catabolic processGO:00313312840.030
response to growth factorGO:00708482050.030
anion transportGO:00068201610.030
purine ribonucleotide biosynthetic processGO:0009152790.030
sensory perceptionGO:00076001030.030
purine nucleoside monophosphate catabolic processGO:00091281580.030
positive regulation of cell differentiationGO:00455972110.029
regulation of cytokine productionGO:00018172320.029
cellular response to hormone stimulusGO:00328701250.029
negative regulation of protein modification processGO:00314002000.029
regulation of cell cycle processGO:00105642660.029
negative regulation of cellular component organizationGO:00511292350.029
regulation of transmembrane transporter activityGO:0022898740.029
calcium ion homeostasisGO:00550741220.029
positive regulation of immune system processGO:00026842830.029
regulation of establishment of protein localizationGO:00702012420.029
single organism carbohydrate metabolic processGO:00447231930.029
adenylate cyclase modulating g protein coupled receptor signaling pathwayGO:0007188430.029
protein oligomerizationGO:00512591730.029
enzyme linked receptor protein signaling pathwayGO:00071673030.029
response to external biotic stimulusGO:00432072610.029
vesicle mediated transportGO:00161923710.029
nerve developmentGO:002167540.028
nucleoside monophosphate metabolic processGO:00091231910.028
cell morphogenesis involved in differentiationGO:00009041440.028
purine ribonucleoside triphosphate catabolic processGO:00092073910.028
peptidyl serine phosphorylationGO:00181051010.028
purine nucleoside monophosphate metabolic processGO:00091261860.028
calcium ion transmembrane transportGO:0070588760.028
reactive oxygen species metabolic processGO:0072593750.028
regulation of actin filament based processGO:00329701410.028
regulation of protein localizationGO:00328802960.028
organic hydroxy compound transportGO:0015850630.028
Rat
purine ribonucleoside triphosphate metabolic processGO:00092054110.028
reactive nitrogen species metabolic processGO:200105730.028
ossificationGO:00015031210.028
positive regulation of organelle organizationGO:00106381950.027
second messenger mediated signalingGO:0019932780.027
negative regulation of transcription from rna polymerase ii promoterGO:00001222810.027
small gtpase mediated signal transductionGO:0007264780.027
ribonucleotide biosynthetic processGO:0009260810.027
negative regulation of cellular amino acid metabolic processGO:004576320.027
response to other organismGO:00517072610.027
potassium ion transmembrane transportGO:0071805600.027
cyclic purine nucleotide metabolic processGO:0052652600.027
response to biotic stimulusGO:00096072760.027
purine ribonucleoside monophosphate metabolic processGO:00091671860.027
response to radiationGO:00093141510.027
oxidation reduction processGO:00551143960.026
glycosyl compound catabolic processGO:19016584130.026
cytokine productionGO:00018162470.026
purine containing compound biosynthetic processGO:0072522880.026
negative regulation of cytosolic calcium ion concentrationGO:005148110.026
ribose phosphate biosynthetic processGO:0046390820.026
anterior posterior axis specificationGO:000994820.026
purine nucleotide biosynthetic processGO:0006164840.026
reactive oxygen species biosynthetic processGO:190340940.026
negative regulation of cell deathGO:00605483450.026
regulation of transporter activityGO:0032409820.026
regenerationGO:003109940.026
positive regulation of cellular component biogenesisGO:00440891580.026
regulation of protein serine threonine kinase activityGO:00719001790.025
protein targetingGO:00066051870.025
carbohydrate metabolic processGO:00059752070.025
cellular lipid metabolic processGO:00442553030.025
regulation of cell migrationGO:00303342890.025
regulation of growthGO:00400081650.025
cellular potassium ion transportGO:0071804600.025
protein catabolic processGO:00301633250.024
cellular metal ion homeostasisGO:00068751460.024
chromatin organizationGO:00063253510.024
regulation of synaptic plasticityGO:004816730.024
camp metabolic processGO:0046058610.024
purine ribonucleoside metabolic processGO:00461284370.024
atp metabolic processGO:00460341760.024
immune system developmentGO:00025201950.024
g protein coupled receptor signaling pathway coupled to cyclic nucleotide second messengerGO:0007187430.024
dephosphorylationGO:00163112090.024
positive regulation of cytokine productionGO:00018191670.024
nucleotide catabolic processGO:00091664080.024
positive regulation of cell cycleGO:00457871400.024
negative regulation of immune system processGO:00026831360.024
mitotic cell cycle processGO:19030472860.024
circadian behaviorGO:004851220.024
ribonucleoside monophosphate catabolic processGO:00091581580.023
potassium ion transportGO:0006813620.023
Rat
negative regulation of secretionGO:0051048580.023
positive regulation of secretion by cellGO:19035321080.023
cellular macromolecule catabolic processGO:00442653800.023
protein localization to nucleusGO:00345041360.023
nucleotide biosynthetic processGO:00091651090.023
regulation of multi organism processGO:00439001570.023
negative regulation of phosphorylationGO:00423261740.023
positive regulation of hydrolase activityGO:00513453310.022
covalent chromatin modificationGO:00165692540.022
blastoderm segmentationGO:000735020.022
maintenance of locationGO:00512351120.022
regulation of camp biosynthetic processGO:0030817450.022
epithelium developmentGO:00604292270.022
negative regulation of hydrolase activityGO:00513461820.022
regulation of reactive oxygen species metabolic processGO:2000377410.022
peptidyl serine modificationGO:00182091060.022
nuclear transportGO:00511691790.022
positive regulation of ion transportGO:0043270870.022
rho protein signal transductionGO:0007266260.021
histone modificationGO:00165702510.021
protein homooligomerizationGO:00512601000.021
negative regulation of intracellular signal transductionGO:19025321830.021
multicellular organismal response to stressGO:003355510.021
lipid metabolic processGO:00066293810.021
cell divisionGO:00513011680.021
blood vessel developmentGO:00015681720.021
cellular macromolecular complex assemblyGO:00346223240.021
hair follicle morphogenesisGO:003106920.021
growthGO:00400072020.020
nucleoside monophosphate catabolic processGO:00091251590.020
regulation of heart contractionGO:0008016500.020
Human
regulation of cytoplasmic transportGO:19036491490.020
signal releaseGO:0023061700.020
regulation of lipid metabolic processGO:0019216960.020
negative regulation of cell proliferationGO:00082852280.020
purine ribonucleoside monophosphate catabolic processGO:00091691580.020
positive regulation of protein phosphorylationGO:00019343130.020
positive regulation of cell cycle processGO:00900681060.020
negative regulation of protein phosphorylationGO:00019331400.020
organelle assemblyGO:00709251760.020
action potentialGO:0001508340.020
rhythmic behaviorGO:000762220.020
positive regulation of secretionGO:00510471160.020
positive regulation of kinase activityGO:00336742040.020
hemopoiesisGO:00300971800.019
response to light stimulusGO:0009416870.019
sequestering of calcium ionGO:0051208170.019
cell activationGO:00017752130.019
skeletal system developmentGO:0001501790.019
cellular response to growth factor stimulusGO:00713631970.019
adult locomotory behaviorGO:000834410.019
regulation of cellular response to stressGO:00801352440.019
negative regulation of growthGO:0045926970.019
cell growthGO:00160491600.019
camp biosynthetic processGO:0006171470.019
regulation of protein catabolic processGO:00421761550.019
regulation of striated muscle contractionGO:0006942370.019
Human
organic acid transportGO:0015849650.019
stem cell differentiationGO:0048863930.019
protein modification by small protein conjugationGO:00324463420.019
positive regulation of reactive oxygen species biosynthetic processGO:190342820.019
syncytium formation by plasma membrane fusionGO:000076820.018
positive regulation of apoptotic processGO:00430652460.018
cerebellum developmentGO:002154920.018
regulation of reactive oxygen species biosynthetic processGO:190342630.018
detection of stimulusGO:0051606850.018
response to disaccharideGO:003428510.018
nucleocytoplasmic transportGO:00069131760.018
response to sucroseGO:000974410.018
somatic muscle developmentGO:000752510.018
anterior posterior axis specification embryoGO:000859520.018
positive regulation of cell motilityGO:20001471770.018
regulation of protein complex assemblyGO:00432541470.018
regulation of cyclic nucleotide biosynthetic processGO:0030802490.018
positive regulation of reactive oxygen species metabolic processGO:2000379240.018
regulation of purine nucleotide catabolic processGO:00331212050.018
regulation of cardiac muscle contractionGO:0055117330.018
Human
cellular response to dna damage stimulusGO:00069743790.018
atp catabolic processGO:00062001570.018
response to decreased oxygen levelsGO:0036293960.018
negative regulation of programmed cell deathGO:00430693210.018
positive regulation of mapk cascadeGO:00434101900.018
memoryGO:000761330.018
startle responseGO:000196430.018
cellular protein catabolic processGO:00442572610.017
cell projection organizationGO:00300302520.017
protein localization to membraneGO:00726571600.017
proteolysis involved in cellular protein catabolic processGO:00516032440.017
central nervous system developmentGO:00074171230.017
rna processingGO:00063962550.017
cardiac chamber morphogenesisGO:0003206260.017
atrial cardiac muscle tissue morphogenesisGO:005500910.017
negative regulation of secretion by cellGO:1903531520.017
gamma aminobutyric acid signaling pathwayGO:000721430.017
regulation of chromosome organizationGO:00330441030.017
cell substrate adhesionGO:00315891320.017
regulation of calcium ion transmembrane transporter activityGO:1901019280.017
establishment of protein localization to organelleGO:00725941720.017
hematopoietic or lymphoid organ developmentGO:00485341860.017
negative regulation of apoptotic processGO:00430663160.017
positive regulation of purine nucleotide biosynthetic processGO:1900373380.017
regulation of cyclic nucleotide metabolic processGO:0030799630.017
tripartite regional subdivisionGO:000735120.017
regulation of protein secretionGO:0050708860.017
regulation of cell adhesionGO:00301551660.017
oocyte differentiationGO:000999420.017
positive regulation of cyclic nucleotide biosynthetic processGO:0030804380.017
hormone secretionGO:0046879650.016
positive regulation of nucleotide metabolic processGO:00459812300.016
negative regulation of synaptic transmissionGO:005080520.016
response to cytokineGO:00340972320.016
protein ubiquitinationGO:00165673140.016
protein maturationGO:00516042330.016
positive regulation of hormone biosynthetic processGO:004688640.016
hormone transportGO:0009914680.016
regulation of mitotic cell cycleGO:00073461890.016
muscle organ morphogenesisGO:0048644190.016
wound healingGO:00420601150.016
metencephalon developmentGO:002203720.016
positive regulation of programmed cell deathGO:00430682490.016
cell cycle phase transitionGO:00447701730.016
cellular response to cytokine stimulusGO:00713451810.016
negative regulation of organelle organizationGO:00106391260.016
oocyte developmentGO:004859910.016
symbiosis encompassing mutualism through parasitismGO:00444031560.016
defense responseGO:00069523150.016
sensory perception of painGO:001923340.016
response to activityGO:001482300.016
synaptic transmissionGO:0007268610.016
amide transportGO:0042886760.016
posttranscriptional regulation of gene expressionGO:00106082130.016
leukocyte migrationGO:00509001070.016
positive regulation of proteolysisGO:00458621420.016
neurogenesisGO:00220081690.016
modification dependent macromolecule catabolic processGO:00436322120.015
regulation of dna metabolic processGO:00510521530.015
spermatid differentiationGO:004851540.015
regulation of homeostatic processGO:00328441210.015
Human
morphogenesis of embryonic epitheliumGO:001633140.015
response to virusGO:00096151260.015
immune effector processGO:00022521590.015
positive regulation of cellular component movementGO:00512721810.015
muscle cell differentiationGO:0042692630.015
response to fungusGO:000962040.015
positive regulation of protein transportGO:00512221350.015
renal system developmentGO:0072001630.015
negative regulation of catabolic processGO:00098951040.015
tissue morphogenesisGO:0048729960.015
aortic valve developmentGO:000317630.015
endomembrane system organizationGO:00102561960.015
positive regulation of steroid hormone biosynthetic processGO:009003120.015
response to woundingGO:00096111680.015
inorganic anion transportGO:0015698600.015
regulation of response to external stimulusGO:00321012220.015
regulation of cell growthGO:00015581350.015
response to transforming growth factor betaGO:0071559940.015
apoptotic signaling pathwayGO:00971902680.015
regulation of intracellular protein transportGO:00331571230.015
negative regulation of cell cycleGO:00457861930.015
osteoblast differentiationGO:0001649920.015
regulation of carbohydrate metabolic processGO:0006109540.015
myeloid cell differentiationGO:00300991170.015
positive regulation of nucleotide catabolic processGO:00308131850.015
blood vessel morphogenesisGO:00485141620.015
regulation of nucleotide catabolic processGO:00308112050.015
tissue regenerationGO:004224630.014
adenylate cyclase activating g protein coupled receptor signaling pathwayGO:0007189180.014
organic anion transportGO:00157111030.014
regulation of nucleoside metabolic processGO:00091182090.014
negative regulation of transferase activityGO:00513481240.014
cell part morphogenesisGO:00329901370.014
regulation of camp metabolic processGO:0030814520.014
multicellular organismal signalingGO:0035637340.014
Human
positive regulation of cell migrationGO:00303351720.014
carboxylic acid transportGO:0046942630.014
cranial nerve developmentGO:002154540.014
regulation of cell activationGO:00508651250.014
anion transmembrane transportGO:0098656760.014
positive regulation of camp biosynthetic processGO:0030819350.014
regulation of cytoskeleton organizationGO:00514931770.014
positive regulation of nucleotide biosynthetic processGO:0030810380.014
skeletal muscle contractionGO:0003009160.014
mitotic cell cycle phase transitionGO:00447721620.014
organelle fissionGO:00482851490.014
brain developmentGO:0007420970.014
mitochondrion organizationGO:00070051560.014
modification dependent protein catabolic processGO:00199412090.014
cellular protein complex assemblyGO:00436231880.014
cellular response to lipidGO:00713961270.014
post embryonic organ developmentGO:004856910.014
positive regulation of locomotionGO:00400171860.014
negative regulation of ion transportGO:0043271390.014
vasculature developmentGO:00019441810.014
sequestering of metal ionGO:0051238240.014
transmembrane receptor protein serine threonine kinase signaling pathwayGO:00071781250.014
positive regulation of protein kinase activityGO:00458601900.014
spermatid developmentGO:000728640.013
generation of neuronsGO:00486991520.013
small molecule biosynthetic processGO:00442831570.013
protein acylationGO:00435431380.013
regulation of calcium ion transmembrane transportGO:1903169280.013
response to peptideGO:1901652650.013
positive regulation of lipid metabolic processGO:0045834500.013
regulation of acrosome reactionGO:006004640.013
cellular carbohydrate metabolic processGO:0044262840.013
positive regulation of cyclic nucleotide metabolic processGO:0030801490.013
visual behaviorGO:000763220.013
response to inorganic substanceGO:00100351270.013
regulation of endopeptidase activityGO:00525481700.013
regulation of i kappab kinase nf kappab signalingGO:00431221620.013
organ formationGO:004864530.013
motor neuron axon guidanceGO:000804520.013
lipid biosynthetic processGO:00086101770.013

SCN4A disease predictions

DiseaseDO term IDSizeProbabilityFunc Analog Org
musculoskeletal system diseaseDOID:172230.232
muscle tissue diseaseDOID:661130.197
myopathyDOID:4231040.197
muscular diseaseDOID:00800001140.197
cardiovascular system diseaseDOID:12871060.123
nervous system diseaseDOID:8634310.053
Human
sensory system diseaseDOID:00501552030.053
retinal diseaseDOID:56791180.029
eye and adnexa diseaseDOID:14921500.029
eye diseaseDOID:56141490.029
cardiomyopathyDOID:0050700500.028
heart diseaseDOID:114680.028
intrinsic cardiomyopathyDOID:0060036500.028
disease of metabolismDOID:00146672950.020
central nervous system diseaseDOID:3311860.020
Human
inherited metabolic disorderDOID:6552420.019
disease of cellular proliferationDOID:145661740.016
cancerDOID:1621670.016
organ system cancerDOID:00506861640.014
neurodegenerative diseaseDOID:12891020.014