Homo sapiens

0 known processes

RS1

retinoschisin 1

(Aliases: XLRS1,RS)

RS1 biological process predictions


Filter by process size:
Biological processGO term IDProcess sizeProbabilityFunc Analog Org
g protein coupled receptor signaling pathwayGO:00071862070.164
cation transportGO:00068123310.140
positive regulation of cell proliferationGO:00082843010.102
positive regulation of developmental processGO:00510943140.083
response to abiotic stimulusGO:00096283360.082
post embryonic developmentGO:000979120.079
transmembrane transportGO:00550853990.079
system processGO:00030083490.076
metal ion transportGO:00300012720.065
cellular amine metabolic processGO:0044106410.063
cation transmembrane transportGO:00986552380.061
regulation of ion transportGO:00432691890.058
purine containing compound catabolic processGO:00725234110.054
chemical homeostasisGO:00488783060.054
ion transmembrane transportGO:00342203380.053
purine ribonucleoside triphosphate catabolic processGO:00092073910.053
positive regulation of cellular component organizationGO:00511303760.052
nucleoside triphosphate catabolic processGO:00091433940.052
cellular divalent inorganic cation homeostasisGO:00725031280.052
cellular ketone metabolic processGO:0042180800.052
positive regulation of transportGO:00510503360.051
glycosyl compound catabolic processGO:19016584130.051
vesicle mediated transportGO:00161923710.050
cellular chemical homeostasisGO:00550821800.050
ion homeostasisGO:00508012300.050
purine nucleoside triphosphate catabolic processGO:00091463920.049
negative regulation of cell deathGO:00605483450.048
purine ribonucleoside metabolic processGO:00461284370.048
purine ribonucleoside triphosphate metabolic processGO:00092054110.048
ribonucleoside catabolic processGO:00424544060.047
cellular homeostasisGO:00197251960.047
neurological system processGO:00508771630.047
purine ribonucleotide catabolic processGO:00091544040.047
organonitrogen compound biosynthetic processGO:19015662000.047
ribonucleotide catabolic processGO:00092614050.046
lipid metabolic processGO:00066293810.046
purine nucleoside triphosphate metabolic processGO:00091444120.046
purine nucleoside catabolic processGO:00061523980.046
divalent inorganic cation homeostasisGO:00725071360.045
cellular amino acid metabolic processGO:00065201160.045
regulation of cellular amino acid metabolic processGO:000652160.044
metal ion homeostasisGO:00550651690.044
purine nucleotide catabolic processGO:00061954050.044
inorganic ion transmembrane transportGO:00986602310.043
regulation of cell differentiationGO:00455953930.043
regulation of cellular amine metabolic processGO:0033238110.043
ribonucleoside triphosphate metabolic processGO:00091994120.042
regulation of cellular component movementGO:00512703340.041
cellular ion homeostasisGO:00068731680.041
cytoplasmic transportGO:00164823790.041
purine ribonucleoside catabolic processGO:00461303980.041
cellular component morphogenesisGO:00329893140.040
cellular cation homeostasisGO:00300031630.040
regulation of cell migrationGO:00303342890.040
nucleotide catabolic processGO:00091664080.040
single organism cellular localizationGO:19025803320.040
regulation of purine nucleotide metabolic processGO:19005422640.040
regulation of response to external stimulusGO:00321012220.039
ribonucleoside triphosphate catabolic processGO:00092033910.039
negative regulation of protein metabolic processGO:00512483910.039
positive regulation of catabolic processGO:00098963100.039
single organism membrane organizationGO:00448022680.039
multicellular organismal agingGO:001025930.039
nucleoside phosphate catabolic processGO:19012924120.039
locomotory behaviorGO:000762610.039
negative regulation of programmed cell deathGO:00430693210.039
determination of adult lifespanGO:000834020.039
negative regulation of apoptotic processGO:00430663160.038
positive regulation of cellular catabolic processGO:00313312840.037
positive regulation of phosphorylationGO:00423273940.037
Human
positive regulation of hydrolase activityGO:00513453310.037
cytosolic calcium ion homeostasisGO:0051480890.037
nucleoside triphosphate metabolic processGO:00091414220.037
organophosphate catabolic processGO:00464344300.037
cell morphogenesisGO:00009022960.037
regulation of cellular ketone metabolic processGO:0010565500.037
positive regulation of cell differentiationGO:00455972110.036
enzyme linked receptor protein signaling pathwayGO:00071673030.036
Human
amine metabolic processGO:0009308440.036
cation homeostasisGO:00550801890.036
cell adhesionGO:00071553250.035
negative regulation of multicellular organismal processGO:00512413170.035
cell developmentGO:00484683280.034
muscle contractionGO:0006936730.034
ras protein signal transductionGO:0007265730.034
cell projection organizationGO:00300302520.033
regulation of nucleotide metabolic processGO:00061402690.033
positive regulation of nucleotide metabolic processGO:00459812300.033
secretionGO:00469032540.033
calcium ion homeostasisGO:00550741220.033
regulation of cell motilityGO:20001452990.033
negative regulation of cellular protein metabolic processGO:00322693530.033
monocarboxylic acid metabolic processGO:00327871850.032
regulation of secretion by cellGO:19035301770.032
positive regulation of purine nucleotide metabolic processGO:19005442270.032
cellular lipid metabolic processGO:00442553030.032
regulation of secretionGO:00510461940.032
signal transduction by phosphorylationGO:00230142970.032
nervous system developmentGO:00073992930.032
small gtpase mediated signal transductionGO:0007264780.031
response to growth factorGO:00708482050.031
Human
cellular metal ion homeostasisGO:00068751460.031
anatomical structure formation involved in morphogenesisGO:00486462840.031
Human
divalent metal ion transportGO:00708381520.031
sensory perception of light stimulusGO:0050953350.030
mapk cascadeGO:00001652880.030
intracellular protein transportGO:00068862700.030
regulation of locomotionGO:00400123290.030
nucleoside catabolic processGO:00091644080.030
detection of stimulusGO:0051606850.029
protein modification by small protein conjugationGO:00324463420.029
regulation of transferase activityGO:00513383550.029
cellular calcium ion homeostasisGO:00068741170.029
cellular response to endogenous stimulusGO:00714953360.028
regulation of transmembrane transportGO:00347621390.028
neuromuscular junction developmentGO:000752830.028
regulation of cell cycleGO:00517263930.028
negative regulation of phosphate metabolic processGO:00459362670.028
regulation of nucleotide catabolic processGO:00308112050.028
regulation of cell developmentGO:00602841610.027
divalent inorganic cation transportGO:00725111580.027
memoryGO:000761330.027
regulation of cellular component biogenesisGO:00440872810.027
sensory perceptionGO:00076001030.027
regulation of protein localizationGO:00328802960.027
membrane organizationGO:00610242920.027
regenerationGO:003109940.026
regulation of ion transmembrane transportGO:00347651320.026
positive regulation of locomotionGO:00400171860.026
regulation of anatomical structure morphogenesisGO:00226032860.026
female gamete generationGO:000729220.026
positive regulation of synaptic transmissionGO:005080640.026
regulation of protein transportGO:00512232130.026
inorganic cation transmembrane transportGO:00986621940.026
calcium ion transportGO:00068161470.026
immune responseGO:00069553070.026
response to oxygen containing compoundGO:19017003690.026
nitrogen compound transportGO:00717051910.026
response to lipidGO:00339932060.026
carbohydrate derivative biosynthetic processGO:19011372070.026
regulation of protein kinase activityGO:00458592890.025
positive regulation of programmed cell deathGO:00430682490.025
positive regulation of cytosolic calcium ion concentrationGO:0007204820.025
regulation of proteolysisGO:00301622930.025
organophosphate biosynthetic processGO:00904071630.025
defense responseGO:00069523150.025
secretion by cellGO:00329402260.025
protein maturationGO:00516042330.025
positive regulation of cell migrationGO:00303351720.025
segmentationGO:003528240.025
guanosine containing compound catabolic processGO:19010692390.025
organic hydroxy compound metabolic processGO:19016151470.025
gtp catabolic processGO:00061842370.025
sensory perception of painGO:001923340.024
regulation of kinase activityGO:00435493140.024
negative regulation of phosphorus metabolic processGO:00105632670.024
protein catabolic processGO:00301633250.024
gtp metabolic processGO:00460392390.024
positive regulation of cell deathGO:00109422630.024
mitotic cell cycleGO:00002783260.024
guanosine containing compound metabolic processGO:19010682440.024
cell fate determinationGO:000170930.024
positive regulation of cellular amino acid metabolic processGO:004576430.024
response to hormoneGO:00097251750.024
small molecule biosynthetic processGO:00442831570.024
positive regulation of cellular amine metabolic processGO:003324070.023
growthGO:00400072020.023
Human
response to woundingGO:00096111680.023
Human
cell cell signalingGO:00072671550.023
biological adhesionGO:00226103310.023
cell growthGO:00160491600.023
Human
cellular response to oxygen containing compoundGO:19017012760.023
protein localization to membraneGO:00726571600.023
regulation of cytokine productionGO:00018172320.023
response to nitrogen compoundGO:19016981840.023
positive regulation of immune system processGO:00026842830.023
cytokine productionGO:00018162470.022
regulation of cellular response to stressGO:00801352440.022
positive regulation of mapk cascadeGO:00434101900.022
nucleoside phosphate biosynthetic processGO:19012931090.022
cellular macromolecule catabolic processGO:00442653800.022
regulation of establishment of protein localizationGO:00702012420.022
rhythmic behaviorGO:000762220.022
organ formationGO:004864530.022
regulation of hormone levelsGO:00108171250.022
positive regulation of transferase activityGO:00513472270.022
actin filament based processGO:00300292240.021
muscle system processGO:0003012810.021
cellular response to growth factor stimulusGO:00713631970.021
Human
hindbrain developmentGO:003090230.021
lipid biosynthetic processGO:00086101770.021
regulation of purine nucleotide catabolic processGO:00331212050.021
regulation of cytoplasmic transportGO:19036491490.021
peptidyl tyrosine phosphorylationGO:00181081700.021
Human
maintenance of locationGO:00512351120.021
positive regulation of nucleoside metabolic processGO:00459791860.021
response to radiationGO:00093141510.021
cellular macromolecular complex assemblyGO:00346223240.021
protein processingGO:00164852260.021
organic acid biosynthetic processGO:0016053970.020
response to light stimulusGO:0009416870.020
positive regulation of apoptotic processGO:00430652460.020
circulatory system developmentGO:00723592620.020
Human
single organism carbohydrate metabolic processGO:00447231930.020
cellular protein catabolic processGO:00442572610.020
positive regulation of purine nucleotide catabolic processGO:00331231850.020
positive regulation of gtp catabolic processGO:00331261660.020
epithelium developmentGO:00604292270.020
cellular response to dna damage stimulusGO:00069743790.020
positive regulation of nucleotide catabolic processGO:00308131850.020
protein ubiquitinationGO:00165673140.020
positive regulation of cellular component movementGO:00512721810.020
generation of neuronsGO:00486991520.020
regulation of growthGO:00400081650.020
Human
regulation of system processGO:00440571010.020
response to organic cyclic compoundGO:00140702040.020
positive regulation of cell developmentGO:0010720920.020
positive regulation of cell motilityGO:20001471770.020
regulation of membrane potentialGO:0042391950.020
cell type specific apoptotic processGO:00972851250.020
fatty acid metabolic processGO:00066311150.020
proteolysis involved in cellular protein catabolic processGO:00516032440.020
apoptotic signaling pathwayGO:00971902680.020
carbohydrate metabolic processGO:00059752070.019
mitotic cell cycle processGO:19030472860.019
regulation of mapk cascadeGO:00434082620.019
regulation of nucleoside metabolic processGO:00091182090.019
negative regulation of catalytic activityGO:00430863350.019
rho protein signal transductionGO:0007266260.019
endomembrane system organizationGO:00102561960.019
oogenesisGO:004847720.019
negative regulation of protein modification processGO:00314002000.019
sequestering of metal ionGO:0051238240.019
regulation of metal ion transportGO:00109591200.019
positive regulation of cytokine productionGO:00018191670.019
negative regulation of cellular amine metabolic processGO:003323930.019
ribose phosphate biosynthetic processGO:0046390820.019
protein localization to organelleGO:00333652800.019
ribonucleotide biosynthetic processGO:0009260810.019
purine ribonucleotide biosynthetic processGO:0009152790.019
regulation of ion transmembrane transporter activityGO:0032412720.019
single organism cell adhesionGO:00986021790.019
positive regulation of ion transportGO:0043270870.019
posttranscriptional regulation of gene expressionGO:00106082130.018
reactive oxygen species metabolic processGO:0072593750.018
phototransductionGO:000760230.018
blood circulationGO:00080151130.018
matingGO:000761810.018
negative regulation of cellular amino acid metabolic processGO:004576320.018
taxisGO:00423301570.018
Human
adult locomotory behaviorGO:000834410.018
response to organonitrogen compoundGO:00102431560.018
oxidation reduction processGO:00551143960.018
anion transportGO:00068201610.018
metencephalon developmentGO:002203720.018
negative regulation of cell proliferationGO:00082852280.018
regulation of gtpase activityGO:00430871800.017
circadian behaviorGO:004851220.017
protein targetingGO:00066051870.017
specification of organ identityGO:001009230.017
wnt signaling pathwayGO:00160551560.017
morphogenesis of embryonic epitheliumGO:001633140.017
response to other organismGO:00517072610.017
positive regulation of organelle organizationGO:00106381950.017
behaviorGO:00076101120.017
innate immune responseGO:00450871780.017
regulation of cell cycle processGO:00105642660.017
blastoderm segmentationGO:000735020.017
response to biotic stimulusGO:00096072760.017
positive regulation of secretionGO:00510471160.017
lung alveolus developmentGO:004828640.016
cyclic purine nucleotide metabolic processGO:0052652600.016
inner ear morphogenesisGO:004247240.016
cellular protein complex assemblyGO:00436231880.016
sequestering of calcium ionGO:0051208170.016
positive regulation of secretion by cellGO:19035321080.016
negative regulation of intracellular signal transductionGO:19025321830.016
regulation of homeostatic processGO:00328441210.016
endocytosisGO:00068971590.016
cellular response to abiotic stimulusGO:00712141170.016
organelle assemblyGO:00709251760.016
regulation of protein serine threonine kinase activityGO:00719001790.016
positive regulation of protein kinase activityGO:00458601900.016
cell activationGO:00017752130.016
positive regulation of sequence specific dna binding transcription factor activityGO:00510911310.016
regulation of ras protein signal transductionGO:00465781550.016
nucleotide biosynthetic processGO:00091651090.016
establishment of protein localization to membraneGO:00901501210.016
positive regulation of protein transportGO:00512221350.016
positive regulation of kinase activityGO:00336742040.016
regulation of cell adhesionGO:00301551660.016
regulation of immune responseGO:00507762010.016
purine ribonucleoside monophosphate metabolic processGO:00091671860.015
compound eye developmentGO:004874910.015
regulation of wnt signaling pathwayGO:00301111230.015
response to external biotic stimulusGO:00432072610.015
cyclic nucleotide biosynthetic processGO:0009190610.015
purine containing compound biosynthetic processGO:0072522880.015
regulation of epithelial cell proliferationGO:00506781130.015
monovalent inorganic cation transportGO:00156721280.015
associative learningGO:000830610.015
regulation of intracellular transportGO:00323861950.015
ubiquitin dependent protein catabolic processGO:00065112060.015
cardiac muscle cell contractionGO:008600340.015
negative regulation of transcription from rna polymerase ii promoterGO:00001222810.015
cell cycle phase transitionGO:00447701730.015
regulation of cell morphogenesisGO:00226041530.015
chemotaxisGO:00069351570.015
Human
regulation of transmembrane transporter activityGO:0022898740.015
modification dependent macromolecule catabolic processGO:00436322120.015
nucleoside monophosphate metabolic processGO:00091231910.015
regulation of ras gtpase activityGO:00323181280.015
purine nucleoside monophosphate metabolic processGO:00091261860.015
neuroblast proliferationGO:000740540.015
cell substrate adhesionGO:00315891320.015
phospholipid metabolic processGO:0006644990.015
regulation of transporter activityGO:0032409820.015
dephosphorylationGO:00163112090.015
carboxylic acid biosynthetic processGO:0046394970.015
regulation of nervous system developmentGO:0051960880.015
regulation of gtp catabolic processGO:00331241800.015
ameboidal type cell migrationGO:00016671350.015
Human
ribonucleoside monophosphate metabolic processGO:00091611870.015
chromatin organizationGO:00063253510.015
protein oligomerizationGO:00512591730.015
regulation of synaptic plasticityGO:004816730.014
purine nucleotide biosynthetic processGO:0006164840.014
steroid metabolic processGO:0008202940.014
epidermis morphogenesisGO:004873030.014
cerebellum developmentGO:002154920.014
regulation of endopeptidase activityGO:00525481700.014
organic hydroxy compound biosynthetic processGO:1901617710.014
regulation of neurogenesisGO:0050767820.014
covalent chromatin modificationGO:00165692540.014
negative regulation of cellular component organizationGO:00511292350.014
regulation of defense responseGO:00313471540.014
cellular response to nitrogen compoundGO:19016991440.014
regulation of cyclic nucleotide biosynthetic processGO:0030802490.014
stem cell differentiationGO:0048863930.014
negative regulation of phosphorylationGO:00423261740.014
cardiovascular system developmentGO:00723582620.014
Human
regulation of meiotic cell cycleGO:005144540.014
response to fungusGO:000962040.014
positive regulation of epithelial cell proliferationGO:0050679650.014
embryonic epithelial tube formationGO:000183840.014
startle responseGO:000196430.014
spermatid developmentGO:000728640.014
response to cytokineGO:00340972320.014
positive regulation of protein phosphorylationGO:00019343130.014
Human
actin cytoskeleton organizationGO:00300362070.014
reactive oxygen species biosynthetic processGO:190340940.014
regulation of response to woundingGO:19030341010.014
reactive nitrogen species metabolic processGO:200105730.014
proteasomal protein catabolic processGO:00104981760.014
negative regulation of hydrolase activityGO:00513461820.014
peripheral nervous system developmentGO:000742220.014
negative regulation of developmental processGO:00510932470.014
regulation of small gtpase mediated signal transductionGO:00510561560.014
regulation of sequence specific dna binding transcription factor activityGO:00510902110.014
modification dependent protein catabolic processGO:00199412090.014
negative regulation of cell cycleGO:00457861930.013
regulation of cell projection organizationGO:00313441070.013
cell projection morphogenesisGO:00488581290.013
spermatid differentiationGO:004851540.013
rna processingGO:00063962550.013
single organismal cell cell adhesionGO:00163371480.013
regulation of behaviorGO:0050795820.013
vasculature developmentGO:00019441810.013
Human
regulation of calcium ion transportGO:0051924790.013
angiogenesisGO:00015251470.013
Human
regulation of lipid metabolic processGO:0019216960.013
positive regulation of gtpase activityGO:00435471660.013
positive regulation of cellular component biogenesisGO:00440891580.013
organic anion transportGO:00157111030.013
purine nucleoside monophosphate catabolic processGO:00091281580.013
regulation of vesicle mediated transportGO:00606271300.013
lipid catabolic processGO:0016042840.013
regulation of reactive oxygen species metabolic processGO:2000377410.013
positive regulation of response to external stimulusGO:0032103880.013
nucleocytoplasmic transportGO:00069131760.013
central nervous system developmentGO:00074171230.013
positive regulation of immune responseGO:00507781590.013
cyclic nucleotide metabolic processGO:0009187820.013
anterior posterior axis specificationGO:000994820.013
regulation of reactive oxygen species biosynthetic processGO:190342630.013
negative regulation of protein processingGO:00109551420.013
epithelial cell differentiationGO:00308551410.013
regulation of protein catabolic processGO:00421761550.013
purine ribonucleoside monophosphate catabolic processGO:00091691580.013
regulation of apoptotic signaling pathwayGO:20012331750.013
regulation of protein complex assemblyGO:00432541470.013
regulation of cyclase activityGO:0031279190.013
microtubule based processGO:00070172100.013
regulation of acrosome reactionGO:006004640.013
cell part morphogenesisGO:00329901370.013
regulation of protein maturationGO:19033171500.013
positive regulation of ras gtpase activityGO:00323201170.013
copulationGO:000762010.013
atp metabolic processGO:00460341760.013
cell divisionGO:00513011680.013
transmembrane receptor protein serine threonine kinase signaling pathwayGO:00071781250.013
regulation of peptidase activityGO:00525471800.013
plasma membrane organizationGO:00070091150.013
peptidyl tyrosine modificationGO:00182121700.013
Human
syncytium formation by plasma membrane fusionGO:000076820.012
negative regulation of protein phosphorylationGO:00019331400.012
regulation of canonical wnt signaling pathwayGO:0060828880.012
mitotic cell cycle phase transitionGO:00447721620.012
regulation of multi organism processGO:00439001570.012
glycerolipid metabolic processGO:00464861070.012
cell projection assemblyGO:00300311260.012
regulation of chemotaxisGO:0050920740.012
sleepGO:003043120.012
epidermal growth factor activated receptor transactivation by g protein coupled receptor signaling pathwayGO:003562540.012
myoblast fusionGO:000752010.012
extrinsic apoptotic signaling pathwayGO:00971911190.012
positive regulation of intracellular transportGO:00323881040.012
i kappab kinase nf kappab signalingGO:00072491660.012
neuron differentiationGO:00301821380.012
histone modificationGO:00165702510.012
regulation of i kappab kinase nf kappab signalingGO:00431221620.012
cell morphogenesis involved in differentiationGO:00009041440.012
cell chemotaxisGO:00603261120.012
Human
circulatory system processGO:00030131130.012
neurogenesisGO:00220081690.012
regulation of cell growthGO:00015581350.012
Human
tissue regenerationGO:004224630.012
establishment of protein localization to organelleGO:00725941720.012
atp catabolic processGO:00062001570.012
regulation of neuron differentiationGO:0045664700.012
regulation of neural precursor cell proliferationGO:200017740.012
wound healingGO:00420601150.012
Human
oocyte developmentGO:004859910.012
cardiac muscle contractionGO:0060048340.012
protein homooligomerizationGO:00512601000.012
positive regulation of i kappab kinase nf kappab signalingGO:00431231320.012
nuclear transportGO:00511691790.012
response to inorganic substanceGO:00100351270.012
positive regulation of behaviorGO:0048520600.012
positive regulation of nervous system developmentGO:0051962540.012
detection of mechanical stimulusGO:005098240.012
regulation of cytoskeleton organizationGO:00514931770.012
tissue migrationGO:00901301190.012
Human
positive regulation of protein serine threonine kinase activityGO:00719021190.012
positive regulation of cytoplasmic transportGO:1903651820.012
monocarboxylic acid biosynthetic processGO:0072330670.012
neuron developmentGO:00486661130.012
transmembrane receptor protein tyrosine kinase signaling pathwayGO:00071691810.012
Human
negative regulation of protein maturationGO:19033181420.012
positive regulation of proteolysisGO:00458621420.012
regulation of vasculature developmentGO:1901342970.012
calcium ion transmembrane transportGO:0070588760.012
response to oxidative stressGO:00069791210.012
sex determinationGO:000753030.011
multicellular organismal signalingGO:0035637340.011
protein importGO:00170381300.011
chromatin modificationGO:00165682980.011
blood vessel morphogenesisGO:00485141620.011
Human
negative regulation of cell motilityGO:20001461040.011
positive regulation of erk1 and erk2 cascadeGO:0070374750.011
regulation of blood circulationGO:1903522590.011
alcohol metabolic processGO:00060661140.011
regulation of mitotic cell cycleGO:00073461890.011
regulation of dna metabolic processGO:00510521530.011
negative regulation of transportGO:00510511760.011
negative regulation of locomotionGO:00400131180.011
response to hypoxiaGO:0001666960.011
immune effector processGO:00022521590.011
response to extracellular stimulusGO:0009991850.011
positive regulation of acrosome reactionGO:200034440.011
regulation of intracellular protein transportGO:00331571230.011

RS1 disease predictions

DiseaseDO term IDSizeProbabilityFunc Analog Org
eye and adnexa diseaseDOID:14921500.134
sensory system diseaseDOID:00501552030.134
nervous system diseaseDOID:8634310.134
eye diseaseDOID:56141490.134
retinal diseaseDOID:56791180.078
retinal degenerationDOID:8466890.031
night blindnessDOID:8499100.030
musculoskeletal system diseaseDOID:172230.028
disease of metabolismDOID:00146672950.023
disease of cellular proliferationDOID:145661740.021
central nervous system diseaseDOID:3311860.021
cancerDOID:1621670.020
organ system cancerDOID:00506861640.017
muscular diseaseDOID:00800001140.016
muscle tissue diseaseDOID:661130.016
inherited metabolic disorderDOID:6552420.016
cardiovascular system diseaseDOID:12871060.015
myopathyDOID:4231040.015
neurodegenerative diseaseDOID:12891020.013
retinitis pigmentosaDOID:10584510.012
connective tissue diseaseDOID:651090.011
bone diseaseDOID:0080001880.011