Homo sapiens

13 known processes

CASQ1

calsequestrin 1 (fast-twitch, skeletal muscle)

(Aliases: PDIB1,CASQ)

CASQ1 biological process predictions


Filter by process size:
Biological processGO term IDProcess sizeProbabilityFunc Analog Org
ion transmembrane transportGO:00342203380.435
Human
inorganic ion transmembrane transportGO:00986602310.282
Human
cation transportGO:00068123310.273
Human
transmembrane transportGO:00550853990.234
Human
cation transmembrane transportGO:00986552380.233
Human
metal ion transportGO:00300012720.202
Human
system processGO:00030083490.202
Human
inorganic cation transmembrane transportGO:00986621940.188
Human
muscle contractionGO:0006936730.168
Human
cardiac muscle contractionGO:0060048340.151
Human
muscle system processGO:0003012810.128
Human
chemical homeostasisGO:00488783060.125
Human Rat
striated muscle contractionGO:0006941520.125
Human
ion homeostasisGO:00508012300.116
Human Rat
purine ribonucleotide catabolic processGO:00091544040.113
organophosphate catabolic processGO:00464344300.112
glycosyl compound catabolic processGO:19016584130.111
actin filament based movementGO:0030048170.104
regulation of cellular ketone metabolic processGO:0010565500.094
regulation of ion transmembrane transportGO:00347651320.094
Human
ribonucleoside catabolic processGO:00424544060.093
regulation of transmembrane transportGO:00347621390.092
Human
amine metabolic processGO:0009308440.092
heart contractionGO:0060047620.091
Human
circulatory system processGO:00030131130.089
Human
purine nucleoside triphosphate metabolic processGO:00091444120.088
ribonucleotide catabolic processGO:00092614050.085
purine ribonucleoside triphosphate catabolic processGO:00092073910.083
ribonucleoside triphosphate catabolic processGO:00092033910.083
regulation of system processGO:00440571010.082
Human Rat
cellular amino acid metabolic processGO:00065201160.080
nucleoside triphosphate catabolic processGO:00091433940.080
purine ribonucleoside triphosphate metabolic processGO:00092054110.079
nucleoside triphosphate metabolic processGO:00091414220.078
nucleoside catabolic processGO:00091644080.077
nucleoside phosphate catabolic processGO:19012924120.077
regulation of muscle system processGO:0090257530.076
Human Rat
purine containing compound catabolic processGO:00725234110.075
purine nucleoside catabolic processGO:00061523980.075
ribonucleoside monophosphate metabolic processGO:00091611870.075
purine ribonucleoside metabolic processGO:00461284370.074
purine nucleotide catabolic processGO:00061954050.073
actin filament based processGO:00300292240.073
cardiac muscle cell contractionGO:008600340.073
calcium ion transportGO:00068161470.072
Human
cellular amine metabolic processGO:0044106410.072
biological adhesionGO:00226103310.072
locomotory behaviorGO:000762610.071
cellular ketone metabolic processGO:0042180800.067
regulation of cellular amine metabolic processGO:0033238110.066
purine nucleoside triphosphate catabolic processGO:00091463920.066
regulation of heart contractionGO:0008016500.065
Human
purine ribonucleoside monophosphate catabolic processGO:00091691580.065
nucleotide catabolic processGO:00091664080.064
purine nucleoside monophosphate catabolic processGO:00091281580.064
response to abiotic stimulusGO:00096283360.064
ribonucleoside triphosphate metabolic processGO:00091994120.063
atp catabolic processGO:00062001570.062
regulation of transmission of nerve impulseGO:005196920.062
heart processGO:0003015620.062
Human
regulation of cellular amino acid metabolic processGO:000652160.061
regulation of ion transportGO:00432691890.060
Human
positive regulation of cellular amine metabolic processGO:003324070.059
cellular chemical homeostasisGO:00550821800.059
Human Rat
purine nucleoside monophosphate metabolic processGO:00091261860.057
blood circulationGO:00080151130.057
Human
g protein coupled receptor signaling pathwayGO:00071862070.056
atrial cardiac muscle tissue morphogenesisGO:005500910.055
actin mediated cell contractionGO:0070252120.055
regulation of ion transmembrane transporter activityGO:0032412720.054
Human
post embryonic developmentGO:000979120.054
regulation of membrane potentialGO:0042391950.054
positive regulation of cellular amino acid metabolic processGO:004576430.054
cellular ion homeostasisGO:00068731680.052
Human Rat
regulation of nucleotide catabolic processGO:00308112050.051
regulation of nucleotide metabolic processGO:00061402690.051
purine ribonucleoside monophosphate metabolic processGO:00091671860.051
atp metabolic processGO:00460341760.050
regulation of cardiac muscle contractionGO:0055117330.049
Human
nucleoside monophosphate metabolic processGO:00091231910.048
divalent metal ion transportGO:00708381520.047
Human
positive regulation of transportGO:00510503360.047
monovalent inorganic cation transportGO:00156721280.046
regulation of striated muscle contractionGO:0006942370.046
Human
neurological system processGO:00508771630.046
nucleoside monophosphate catabolic processGO:00091251590.045
ribonucleoside monophosphate catabolic processGO:00091581580.044
cellular cation homeostasisGO:00300031630.043
Human Rat
cellular metal ion homeostasisGO:00068751460.043
Human Rat
regulation of purine nucleotide metabolic processGO:19005422640.042
cation homeostasisGO:00550801890.042
Human Rat
cell adhesionGO:00071553250.042
muscle structure developmentGO:0061061980.041
Rat
sodium ion transmembrane transportGO:0035725590.041
musculoskeletal movementGO:0050881170.041
regulation of purine nucleotide catabolic processGO:00331212050.040
sodium ion transportGO:0006814610.040
divalent inorganic cation homeostasisGO:00725071360.039
Human Rat
positive regulation of nucleotide metabolic processGO:00459812300.039
calcium ion homeostasisGO:00550741220.039
Human Rat
regulation of nucleoside metabolic processGO:00091182090.038
multicellular organismal agingGO:001025930.038
purine ribonucleoside catabolic processGO:00461303980.038
calcium ion transmembrane transportGO:0070588760.038
Human
positive regulation of cellular catabolic processGO:00313312840.037
positive regulation of cellular component organizationGO:00511303760.037
cellular response to organic cyclic compoundGO:00714071270.037
Human
metal ion homeostasisGO:00550651690.037
Human Rat
determination of adult lifespanGO:000834020.036
divalent inorganic cation transportGO:00725111580.036
Human
regulation of metal ion transportGO:00109591200.035
Human
neuromuscular junction developmentGO:000752830.035
female gamete generationGO:000729220.034
protein oligomerizationGO:00512591730.034
sodium ion export from cellGO:003637660.034
skeletal muscle contractionGO:0003009160.033
regulation of muscle contractionGO:0006937450.033
Human
cellular component morphogenesisGO:00329893140.033
apoptotic signaling pathwayGO:00971902680.033
negative regulation of catalytic activityGO:00430863350.033
negative regulation of transmission of nerve impulseGO:005197010.033
positive regulation of hydrolase activityGO:00513453310.032
regulation of actin filament based processGO:00329701410.032
positive regulation of catabolic processGO:00098963100.032
negative regulation of phosphate metabolic processGO:00459362670.032
negative regulation of transportGO:00510511760.032
Human
memoryGO:000761330.032
signal transduction by phosphorylationGO:00230142970.031
circulatory system developmentGO:00723592620.031
negative regulation of cellular protein metabolic processGO:00322693530.031
oogenesisGO:004847720.031
oxidation reduction processGO:00551143960.031
ras protein signal transductionGO:0007265730.031
cellular response to histamineGO:007142030.031
response to oxygen containing compoundGO:19017003690.031
positive regulation of nucleotide catabolic processGO:00308131850.031
mapk cascadeGO:00001652880.030
regulation of blood circulationGO:1903522590.030
Human
regulation of cellular component biogenesisGO:00440872810.030
protein localization to organelleGO:00333652800.029
regulation of cell cycleGO:00517263930.029
cellular calcium ion homeostasisGO:00068741170.029
Human Rat
regulation of protein localizationGO:00328802960.029
negative regulation of phosphorus metabolic processGO:00105632670.029
positive regulation of purine nucleotide metabolic processGO:19005442270.029
cellular homeostasisGO:00197251960.028
Human Rat
atrial cardiac muscle tissue developmentGO:000322810.028
regulation of secretion by cellGO:19035301770.028
single organism cellular localizationGO:19025803320.028
nerve developmentGO:002167540.028
carbohydrate metabolic processGO:00059752070.028
membrane organizationGO:00610242920.028
negative regulation of protein metabolic processGO:00512483910.027
voluntary skeletal muscle contractionGO:000301010.027
vesicle mediated transportGO:00161923710.027
response to organic cyclic compoundGO:00140702040.026
Human
regulation of transporter activityGO:0032409820.026
Human
immune responseGO:00069553070.026
striated muscle tissue developmentGO:0014706590.026
Rat
multicellular organismal signalingGO:0035637340.026
cellular response to dna damage stimulusGO:00069743790.026
startle responseGO:000196430.026
regenerationGO:003109940.026
nervous system developmentGO:00073992930.026
response to radiationGO:00093141510.025
dephosphorylationGO:00163112090.025
positive regulation of phosphorylationGO:00423273940.025
mitotic cell cycleGO:00002783260.025
small gtpase mediated signal transductionGO:0007264780.025
detection of stimulusGO:0051606850.025
response to organonitrogen compoundGO:00102431560.024
Human
single organism membrane organizationGO:00448022680.024
associative learningGO:000830610.024
regulation of cellular component movementGO:00512703340.024
protein catabolic processGO:00301633250.024
cellular divalent inorganic cation homeostasisGO:00725031280.024
Human Rat
anion transportGO:00068201610.024
response to nitrogen compoundGO:19016981840.024
Human
regulation of cell growthGO:00015581350.024
cellular lipid metabolic processGO:00442553030.024
adult locomotory behaviorGO:000834410.024
cardiac muscle tissue developmentGO:0048738390.023
regulation of synaptic plasticityGO:004816730.023
muscle tissue developmentGO:0060537620.023
Rat
regulation of heart rateGO:0002027380.023
Human
regulation of transmembrane transporter activityGO:0022898740.023
Human
secretionGO:00469032540.023
regulation of protein kinase activityGO:00458592890.022
positive regulation of cell deathGO:00109422630.022
cellular response to organonitrogen compoundGO:00714171240.022
Human
single organismal cell cell adhesionGO:00163371480.022
lipid metabolic processGO:00066293810.022
single organism carbohydrate metabolic processGO:00447231930.022
monocarboxylic acid metabolic processGO:00327871850.022
heart developmentGO:0007507950.022
positive regulation of nucleoside metabolic processGO:00459791860.022
cytokine productionGO:00018162470.021
regulation of growthGO:00400081650.021
mitotic cell cycle processGO:19030472860.021
regulation of establishment of protein localizationGO:00702012420.021
cellular protein catabolic processGO:00442572610.021
organelle assemblyGO:00709251760.021
regulation of secretionGO:00510461940.021
cell developmentGO:00484683280.021
protein homooligomerizationGO:00512601000.021
cellular macromolecular complex assemblyGO:00346223240.021
sequestering of calcium ionGO:0051208170.020
Human Rat
negative regulation of cellular amino acid metabolic processGO:004576320.020
regulation of mapk cascadeGO:00434082620.020
potassium ion transmembrane transportGO:0071805600.020
protein modification by small protein conjugationGO:00324463420.020
sequestering of metal ionGO:0051238240.020
Human Rat
negative regulation of cellular component organizationGO:00511292350.020
rhythmic behaviorGO:000762220.020
negative regulation of protein modification processGO:00314002000.020
organophosphate biosynthetic processGO:00904071630.020
muscle organ morphogenesisGO:0048644190.020
positive regulation of organelle organizationGO:00106381950.020
response to metal ionGO:0010038840.020
regulation of acrosome reactionGO:006004640.020
cellular macromolecule catabolic processGO:00442653800.020
regulation of protein transportGO:00512232130.020
secretion by cellGO:00329402260.020
chromatin organizationGO:00063253510.020
cellular response to endogenous stimulusGO:00714953360.020
Human
response to inorganic substanceGO:00100351270.020
cardiovascular system developmentGO:00723582620.019
regulation of reactive oxygen species metabolic processGO:2000377410.019
intracellular protein transportGO:00068862700.019
cellular response to nitrogen compoundGO:19016991440.019
Human
regulation of cellular response to stressGO:00801352440.019
regulation of transferase activityGO:00513383550.019
regulation of intracellular transportGO:00323861950.019
Human
maintenance of locationGO:00512351120.019
Human Rat
innate immune responseGO:00450871780.019
negative regulation of cellular amine metabolic processGO:003323930.019
protein ubiquitinationGO:00165673140.019
action potentialGO:0001508340.019
growthGO:00400072020.019
myoblast fusionGO:000752010.019
positive regulation of purine nucleotide catabolic processGO:00331231850.019
regulation of cell cycle processGO:00105642660.019
cell morphogenesisGO:00009022960.019
matingGO:000761810.019
regulation of the force of heart contractionGO:000202660.019
circadian behaviorGO:004851220.019
cellular protein complex assemblyGO:00436231880.019
response to hypoxiaGO:0001666960.019
cell growthGO:00160491600.019
chromatin modificationGO:00165682980.019
response to growth factorGO:00708482050.019
single organism cell adhesionGO:00986021790.018
response to biotic stimulusGO:00096072760.018
response to decreased oxygen levelsGO:0036293960.018
small molecule biosynthetic processGO:00442831570.018
negative regulation of growthGO:0045926970.018
potassium ion transportGO:0006813620.018
positive regulation of ion transportGO:0043270870.018
cellular potassium ion transportGO:0071804600.018
reactive oxygen species biosynthetic processGO:190340940.018
rho protein signal transductionGO:0007266260.018
regulation of cell differentiationGO:00455953930.018
reactive nitrogen species metabolic processGO:200105730.018
cytoplasmic transportGO:00164823790.018
Human
multicellular organismal movementGO:0050879170.018
limbic system developmentGO:002176130.018
response to lipidGO:00339932060.018
anatomical structure formation involved in morphogenesisGO:00486462840.018
regulation of small gtpase mediated signal transductionGO:00510561560.018
response to light stimulusGO:0009416870.018
reactive oxygen species metabolic processGO:0072593750.018
segmentationGO:003528240.018
regulation of ras protein signal transductionGO:00465781550.018
guanosine containing compound catabolic processGO:19010692390.018
regulation of kinase activityGO:00435493140.017
regulation of anatomical structure morphogenesisGO:00226032860.017
cell activationGO:00017752130.017
syncytium formation by plasma membrane fusionGO:000076820.017
response to oxygen levelsGO:00704821000.017
regulation of atp catabolic processGO:1903289250.017
multicellular organismal response to stressGO:003355510.017
regulation of ion homeostasisGO:2000021730.017
Human Rat
proteolysis involved in cellular protein catabolic processGO:00516032440.017
negative regulation of intracellular signal transductionGO:19025321830.017
negative regulation of catabolic processGO:00098951040.017
response to hormoneGO:00097251750.017
response to external biotic stimulusGO:00432072610.017
negative regulation of programmed cell deathGO:00430693210.017
detection of mechanical stimulusGO:005098240.017
positive regulation of programmed cell deathGO:00430682490.017
regulation of lipid metabolic processGO:0019216960.017
negative regulation of hydrolase activityGO:00513461820.017
defense responseGO:00069523150.017
response to other organismGO:00517072610.016
regulation of proteolysisGO:00301622930.016
cell projection organizationGO:00300302520.016
cellular response to oxygen containing compoundGO:19017012760.016
regulation of cytoskeleton organizationGO:00514931770.016
actin cytoskeleton organizationGO:00300362070.016
negative regulation of phosphorylationGO:00423261740.016
organonitrogen compound biosynthetic processGO:19015662000.016
regulation of calcium ion transportGO:0051924790.016
Human
regulation of cytokine productionGO:00018172320.016
positive regulation of developmental processGO:00510943140.016
covalent chromatin modificationGO:00165692540.016
sensory perceptionGO:00076001030.016
positive regulation of synaptic transmissionGO:005080640.016
gamma aminobutyric acid signaling pathwayGO:000721430.016
oocyte developmentGO:004859910.016
small molecule catabolic processGO:0044282920.015
muscle cell differentiationGO:0042692630.015
response to axon injuryGO:004867810.015
inorganic anion transmembrane transportGO:0098661470.015
protein maturationGO:00516042330.015
microtubule based processGO:00070172100.015
regulation of atpase activityGO:0043462250.015
positive regulation of transferase activityGO:00513472270.015
positive regulation of cell differentiationGO:00455972110.015
positive regulation of secretionGO:00510471160.015
regulation of reactive oxygen species biosynthetic processGO:190342630.015
oocyte differentiationGO:000999420.015
carbohydrate derivative biosynthetic processGO:19011372070.015
cell cycle phase transitionGO:00447701730.015
cellular response to growth factor stimulusGO:00713631970.015
regulation of apoptotic signaling pathwayGO:20012331750.015
regulation of dna metabolic processGO:00510521530.015
av node cell to bundle of his cell communicationGO:008606740.015
prostate gland developmentGO:003085030.015
positive regulation of apoptotic processGO:00430652460.015
mitotic cell cycle phase transitionGO:00447721620.014
cellular response to hormone stimulusGO:00328701250.014
lipid biosynthetic processGO:00086101770.014
positive regulation of cellular component biogenesisGO:00440891580.014
cardiac ventricle morphogenesisGO:0003208200.014
gtp catabolic processGO:00061842370.014
cytosolic calcium ion homeostasisGO:0051480890.014
Human
negative regulation of neurological system processGO:003164520.014
tissue regenerationGO:004224630.014
visual behaviorGO:000763220.014
motor neuron axon guidanceGO:000804520.014
anion transmembrane transportGO:0098656760.014
neuroblast proliferationGO:000740540.014
striated muscle adaptationGO:001488840.014
positive regulation of cell proliferationGO:00082843010.014
long term memoryGO:000761620.014
somatic muscle developmentGO:000752510.014
regulation of atrial cardiac muscle cell membrane repolarizationGO:006037240.014
regulation of cardiac muscle contraction by calcium ion signalingGO:001088230.014
Human
regulation of protein complex assemblyGO:00432541470.014
organ morphogenesisGO:00098871470.014
modification dependent macromolecule catabolic processGO:00436322120.014
nitrogen compound transportGO:00717051910.014
negative regulation of protein phosphorylationGO:00019331400.014
regulation of response to external stimulusGO:00321012220.014
response to oxidative stressGO:00069791210.014
cell divisionGO:00513011680.014
nucleotide biosynthetic processGO:00091651090.014
twitch skeletal muscle contractionGO:001472110.014
establishment of protein localization to organelleGO:00725941720.014
regulation of homeostatic processGO:00328441210.014
Human Rat
fatty acid metabolic processGO:00066311150.014
cellular response to toxic substanceGO:009723740.014
ubiquitin dependent protein catabolic processGO:00065112060.014
mitochondrion organizationGO:00070051560.014
regulation of protein serine threonine kinase activityGO:00719001790.014
regulation of cell morphogenesisGO:00226041530.014
cellular component assembly involved in morphogenesisGO:0010927730.014
cell part morphogenesisGO:00329901370.013
protein targetingGO:00066051870.013
cellular response to lipidGO:00713961270.013
negative regulation of multicellular organismal processGO:00512413170.013
cardiac muscle tissue morphogenesisGO:0055008180.013
potassium ion importGO:001010790.013
negative regulation of cell cycleGO:00457861930.013
cellular response to abiotic stimulusGO:00712141170.013
endomembrane system organizationGO:00102561960.013
enzyme linked receptor protein signaling pathwayGO:00071673030.013
symbiosis encompassing mutualism through parasitismGO:00444031560.013
modification dependent protein catabolic processGO:00199412090.013
positive regulation of protein phosphorylationGO:00019343130.013
muscle organ developmentGO:0007517560.013
Rat
blastoderm segmentationGO:000735020.013
positive regulation of reactive oxygen species metabolic processGO:2000379240.013
heart morphogenesisGO:0003007480.013
sensory perception of painGO:001923340.013
behaviorGO:00076101120.013
intrinsic apoptotic signaling pathwayGO:00971931270.013
dna repairGO:00062811980.013
transmission of nerve impulseGO:0019226110.013
histone modificationGO:00165702510.013
positive regulation of secretion by cellGO:19035321080.013
regulation of cell motilityGO:20001452990.013
regulation of atp metabolic processGO:1903578290.013
regulation of body fluid levelsGO:0050878990.013
endocytosisGO:00068971590.013
visual learningGO:000854210.013
regulation of neuronal synaptic plasticityGO:004816810.013
protein localization to membraneGO:00726571600.013
positive regulation of cellular component movementGO:00512721810.013
gtp metabolic processGO:00460392390.013
tissue morphogenesisGO:0048729960.013
spermatid differentiationGO:004851540.013
anterior posterior axis specification embryoGO:000859520.013
epithelium migrationGO:00901321190.013
proteasomal protein catabolic processGO:00104981760.013
positive regulation of protein kinase activityGO:00458601900.013
interspecies interaction between organismsGO:00444191560.013
negative regulation of apoptotic processGO:00430663160.013
response to cytokineGO:00340972320.013
chloride transmembrane transportGO:1902476380.013
receptor metabolic processGO:0043112810.013
chloride transportGO:0006821410.013
tripartite regional subdivisionGO:000735120.013
regulation of protein catabolic processGO:00421761550.012
protein processingGO:00164852260.012
muscle tissue morphogenesisGO:0060415190.012
response to woundingGO:00096111680.012
post embryonic organ developmentGO:004856910.012
positive regulation of reactive oxygen species biosynthetic processGO:190342820.012
negative regulation of organelle organizationGO:00106391260.012
neuron differentiationGO:00301821380.012
negative regulation of ion transportGO:0043271390.012
Human
regulation of ras gtpase activityGO:00323181280.012
negative regulation of transferase activityGO:00513481240.012
erk1 and erk2 cascadeGO:00703711040.012
regulation of erk1 and erk2 cascadeGO:0070372990.012
multi organism cellular processGO:00447641560.012
stem cell divisionGO:001714520.012
rna processingGO:00063962550.012
hindbrain developmentGO:003090230.012
guanosine containing compound metabolic processGO:19010682440.012
wound healingGO:00420601150.012
epidermal growth factor activated receptor transactivation by g protein coupled receptor signaling pathwayGO:003562540.012
proteasome mediated ubiquitin dependent protein catabolic processGO:00431611560.012
positive regulation of mapk cascadeGO:00434101900.012
positive regulation of proteolysisGO:00458621420.012
positive regulation of gtpase activityGO:00435471660.012
regulation of multi organism processGO:00439001570.012
negative regulation of cell proliferationGO:00082852280.012
regulation of gtpase activityGO:00430871800.012
positive regulation of protein transportGO:00512221350.012
regulation of gtp catabolic processGO:00331241800.012
negative regulation of cell deathGO:00605483450.012
negative regulation of cellular catabolic processGO:0031330830.012
organic acid biosynthetic processGO:0016053970.012
peptidyl serine modificationGO:00182091060.012
second messenger mediated signalingGO:0019932780.012
Human
regulation of sequence specific dna binding transcription factor activityGO:00510902110.012
detection of stimulus involved in sensory perceptionGO:0050906430.012
regulation of phosphatase activityGO:0010921810.012
protein secretionGO:0009306980.012
positive regulation of cytokine productionGO:00018191670.012
regulation of epithelial cell migrationGO:0010632930.012
ventricular cardiac muscle tissue developmentGO:0003229140.012
regulation of cytoplasmic transportGO:19036491490.012
Human
posttranscriptional regulation of gene expressionGO:00106082130.011
ventricular cardiac muscle tissue morphogenesisGO:0055010140.011
compound eye developmentGO:004874910.011
cell cell signalingGO:00072671550.011
positive regulation of cell cycleGO:00457871400.011
peptidyl serine phosphorylationGO:00181051010.011
microtubule cytoskeleton organizationGO:00002261760.011
negative regulation of synaptic transmissionGO:005080520.011
anterior posterior axis specificationGO:000994820.011
cellular response to cytokine stimulusGO:00713451810.011
synaptic transmission cholinergicGO:000727120.011
immune effector processGO:00022521590.011
carboxylic acid biosynthetic processGO:0046394970.011
regulation of cell divisionGO:00513021160.011

CASQ1 disease predictions

DiseaseDO term IDSizeProbabilityFunc Analog Org
muscle tissue diseaseDOID:661130.310
musculoskeletal system diseaseDOID:172230.310
muscular diseaseDOID:00800001140.310
myopathyDOID:4231040.179
cardiomyopathyDOID:0050700500.179
heart diseaseDOID:114680.179
cardiovascular system diseaseDOID:12871060.179
intrinsic cardiomyopathyDOID:0060036500.134
hypertrophic cardiomyopathyDOID:11984210.134
nervous system diseaseDOID:8634310.042
central nervous system diseaseDOID:3311860.042
inherited metabolic disorderDOID:6552420.041
disease of metabolismDOID:00146672950.041
sensory system diseaseDOID:00501552030.040
eye and adnexa diseaseDOID:14921500.032
retinal diseaseDOID:56791180.028
eye diseaseDOID:56141490.028
disease of cellular proliferationDOID:145661740.020
dilated cardiomyopathyDOID:12930320.019
cancerDOID:1621670.018
organ system cancerDOID:00506861640.017
neurodegenerative diseaseDOID:12891020.016
retinal degenerationDOID:8466890.014
brain diseaseDOID:936730.012