Mus musculus

105 known processes

Myo7a

myosin VIIA

(Aliases: sh1,Myo7,nmf371,sh-1,Hdb,polka,USH1B)

Myo7a biological process predictions


Filter by process size:
Biological processGO term IDProcess sizeProbabilityFunc Analog Org
auditory receptor cell morphogenesisGO:0002093150.985
detection of mechanical stimulus involved in sensory perception of soundGO:0050910160.979
inner ear receptor cell developmentGO:0060119390.977
sensory perception of soundGO:0007605970.975
photoreceptor cell maintenanceGO:0045494190.960
sensory perception of mechanical stimulusGO:00509541070.947
ear developmentGO:00435832000.936
inner ear receptor stereocilium organizationGO:0060122230.889
cardiac muscle tissue growth involved in heart morphogenesisGO:000324510.879
retina homeostasisGO:0001895230.877
vestibular receptor cell developmentGO:006011820.854
inner ear receptor cell differentiationGO:0060113610.834
actin filament organizationGO:00070151130.799
Fly
actin cytoskeleton organizationGO:00300362200.733
Fly
neuromuscular process controlling balanceGO:0050885590.703
Human
single organismal cell cell adhesionGO:00163371310.695
blood coagulationGO:0007596760.656
sensory organ morphogenesisGO:00905962420.601
actin filament bundle assemblyGO:0051017400.552
cellular response to fructose stimulusGO:007133220.523
hair cell differentiationGO:0035315400.503
cell adhesionGO:00071553290.495
ear morphogenesisGO:00424711180.469
sensory perception of light stimulusGO:0050953540.453
detection of mechanical stimulus involved in sensory perceptionGO:0050974230.439
leukocyte migrationGO:00509001240.419
equilibrioceptionGO:005095730.408
Human
coagulationGO:0050817780.400
ras protein signal transductionGO:0007265770.397
mechanoreceptor differentiationGO:0042490670.393
auditory receptor cell stereocilium organizationGO:0060088120.366
embryonic organ morphogenesisGO:00485622760.287
positive regulation of dipeptide transmembrane transportGO:200115020.264
regulation of blood pressureGO:0008217930.257
anatomical structure homeostasisGO:00602491450.255
eye photoreceptor cell developmentGO:0042462310.252
parallel actin filament bundle assemblyGO:003004620.251
bicarbonate transportGO:001570170.246
cellular ion homeostasisGO:00068731650.244
neuron projection guidanceGO:00974851410.242
blood vessel morphogenesisGO:00485142850.233
multicellular organismal homeostasisGO:00488711640.226
skin developmentGO:00435882200.220
filtration diaphragm assemblyGO:003605810.217
epidermis developmentGO:00085441870.200
regulation of actin cytoskeleton organizationGO:0032956840.199
regulation of mapk cascadeGO:00434082480.199
chemotaxisGO:00069352470.188
regulation of rho protein signal transductionGO:0035023710.186
oligopeptide transmembrane transportGO:003567240.181
multicellular organism growthGO:00352641610.181
detection of mechanical stimulusGO:0050982270.181
mitotic cell cycleGO:00002781950.180
sphingosine 1 phosphate signaling pathwayGO:000337630.168
auditory receptor cell differentiationGO:0042491370.167
detection of mechanical stimulus involved in equilibrioceptionGO:005097320.164
regulation of transferase activityGO:00513382630.155
tissue homeostasisGO:00018941150.152
sphingolipid mediated signaling pathwayGO:009052050.148
small gtpase mediated signal transductionGO:0007264970.147
detection of external stimulusGO:0009581610.145
eye photoreceptor cell differentiationGO:0001754410.145
mannitol transportGO:001579710.143
endocytosisGO:00068971680.143
negative regulation of transferase activityGO:0051348850.141
axonogenesisGO:00074092740.138
negative regulation of phosphorus metabolic processGO:00105631840.138
hemostasisGO:0007599780.137
immunoglobulin secretion involved in immune responseGO:000238020.136
lymphocyte migrationGO:0072676260.133
intracellular ph elevationGO:005145430.131
macromolecule catabolic processGO:00090572810.130
g protein coupled receptor signaling pathwayGO:00071862430.123
rho protein signal transductionGO:0007266320.118
regulation of cellular component biogenesisGO:00440871810.115
righting reflexGO:006001390.114
nucleoside phosphate metabolic processGO:00067533380.114
Fly
regulation of ras protein signal transductionGO:00465781140.113
regulation of vesicle mediated transportGO:00606271390.112
response to growth factorGO:00708481980.110
regulation of excitatory postsynaptic membrane potentialGO:0060079410.105
neuromuscular processGO:0050905990.104
Human
heart morphogenesisGO:00030071780.102
adult behaviorGO:00305341350.101
purine ribonucleoside metabolic processGO:00461282410.100
Fly
regulation of map kinase activityGO:00434051200.097
sensory perceptionGO:00076002450.096
morphogenesis of a polarized epitheliumGO:0001738370.095
spermatid differentiationGO:00485151150.094
detection of stimulus involved in sensory perceptionGO:0050906440.094
synaptic transmissionGO:00072683290.093
cellular component assembly involved in morphogenesisGO:00109271390.092
cellular chemical homeostasisGO:00550822150.092
organic hydroxy compound transportGO:0015850930.091
regulation of organelle organizationGO:00330432890.090
dicarboxylic acid transportGO:0006835290.089
regulation of cytoskeleton organizationGO:00514931220.088
cellular amino acid metabolic processGO:00065201030.088
regulation of postsynaptic membrane potentialGO:0060078480.083
striated muscle tissue developmentGO:00147062930.083
positive regulation of thyroid hormone generationGO:200061120.082
negative regulation of intracellular signal transductionGO:19025321670.079
negative regulation of canonical wnt signaling pathwayGO:0090090510.076
vagus nerve developmentGO:002156430.076
activation of immune responseGO:00022531380.073
regulation of cell projection organizationGO:00313442060.070
regulation of cell adhesionGO:00301551540.069
cytokine productionGO:00018163190.069
response to molecule of bacterial originGO:00022371430.069
carboxylic acid transportGO:00469421000.069
regulation of cell migrationGO:00303342190.068
transmembrane receptor protein serine threonine kinase signaling pathwayGO:00071781940.068
hindlimb morphogenesisGO:0035137420.067
nucleotide metabolic processGO:00091173320.066
Fly
endothelial cell developmentGO:0001885200.065
wnt signaling pathwayGO:00160551880.065
regulation of membrane potentialGO:00423911920.065
oxidation reduction processGO:00551143420.064
inner ear morphogenesisGO:00424721010.063
organic anion transportGO:00157111370.063
sulfate transmembrane transportGO:190235830.063
intracellular protein transportGO:00068862040.063
amino acid transportGO:0006865610.062
cell migration in hindbrainGO:0021535160.062
angiogenesisGO:00015252010.061
locomotory behaviorGO:00076261950.061
embryonic epithelial tube formationGO:00018381300.061
skeletal system morphogenesisGO:00487052030.060
muscle contractionGO:00069361010.060
cation homeostasisGO:00550802120.060
positive regulation of dipeptide transportGO:200088020.060
cellular metal ion homeostasisGO:00068751510.059
membrane hyperpolarizationGO:0060081210.059
leukocyte chemotaxisGO:0030595690.058
regulation of cell motilityGO:20001452360.058
platelet activationGO:0030168400.057
regulation of protein localizationGO:00328802310.057
adult locomotory behaviorGO:0008344910.057
embryonic hindlimb morphogenesisGO:0035116320.056
mapk cascadeGO:00001652810.056
granulocyte migrationGO:0097530430.056
nonmotile primary cilium assemblyGO:003505880.056
protein catabolic processGO:00301632210.056
cellular lipid metabolic processGO:00442553230.056
regulation of anatomical structure sizeGO:00900661780.055
response to radiationGO:00093141650.055
organic acid transportGO:00158491010.055
positive regulation of cell adhesionGO:0045785800.055
cellular macromolecule catabolic processGO:00442652060.055
organelle assemblyGO:00709251770.054
vestibular receptor cell morphogenesisGO:006011610.053
regulation of cell activationGO:00508652890.053
circulatory system processGO:00030131970.053
positive regulation of cell migrationGO:00303351090.052
single organism cell adhesionGO:00986021560.052
epithelial cell developmentGO:00020641590.052
visual perceptionGO:0007601520.052
t cell migrationGO:0072678190.051
ectodermal cell fate commitmentGO:000171210.051
organelle localizationGO:00516401790.051
negative regulation of phosphorylationGO:00423261660.050
negative regulation of phosphate metabolic processGO:00459361840.050
cellular homeostasisGO:00197252400.050
small molecule biosynthetic processGO:00442831320.050
nucleobase containing small molecule metabolic processGO:00550863520.049
Fly
leukocyte activation involved in immune responseGO:00023661260.049
renal system developmentGO:00720012250.047
regulation of defense responseGO:00313472330.047
biomineral tissue developmentGO:0031214640.047
purine nucleotide metabolic processGO:00061633020.047
Fly
metal ion homeostasisGO:00550651890.047
negative regulation of cellular component organizationGO:00511291940.047
granulocyte chemotaxisGO:0071621390.046
regulation of blood coagulationGO:0030193280.046
basal protein localizationGO:004517510.045
regulation of phospholipid effluxGO:190299420.045
ribonucleoside metabolic processGO:00091192450.045
Fly
sterol homeostasisGO:0055092450.045
regulation of actin filament based processGO:0032970990.045
sterol metabolic processGO:0016125580.044
neural tube closureGO:0001843900.044
cellularizationGO:000734910.043
purine ribonucleotide metabolic processGO:00091502900.042
Fly
positive regulation of mapk cascadeGO:00434101700.042
negative regulation of protein modification processGO:00314001630.042
muscle tissue morphogenesisGO:0060415530.041
single fertilizationGO:0007338820.041
cardiac muscle cell differentiationGO:0055007690.041
canonical wnt signaling pathwayGO:00600701300.041
detection of abiotic stimulusGO:0009582600.040
cellular response to lipidGO:00713961450.040
anion transportGO:00068201770.040
response to organonitrogen compoundGO:00102432460.040
embryonic placenta developmentGO:0001892980.040
regulation of hemostasisGO:1900046280.040
alcohol metabolic processGO:00060661160.040
positive regulation of cellular component biogenesisGO:0044089940.040
dendritic spine maintenanceGO:009706240.040
organ growthGO:00352651170.039
cellular protein complex assemblyGO:00436231160.039
carbohydrate derivative catabolic processGO:19011362310.038
Fly
negative regulation of wnt signaling pathwayGO:0030178730.038
memoryGO:0007613580.038
proteolysis involved in cellular protein catabolic processGO:00516031470.038
negative regulation of immune system processGO:00026832090.037
platelet derived growth factor receptor signaling pathwayGO:0048008320.037
formation of radial glial scaffoldsGO:002194340.037
regulation of antigen receptor mediated signaling pathwayGO:0050854290.037
cochlea developmentGO:0090102350.036
retina development in camera type eyeGO:00600411190.036
detection of stimulusGO:0051606840.035
developmental growth involved in morphogenesisGO:00605601380.035
cardiac muscle tissue morphogenesisGO:0055008440.035
germ cell developmentGO:00072811850.035
pulmonary valve formationGO:000319310.035
regulation of resting membrane potentialGO:006007530.035
lipid catabolic processGO:0016042690.034
antigen receptor mediated signaling pathwayGO:0050851640.034
nucleotide catabolic processGO:00091662170.034
Fly
positive regulation of protein kinase activityGO:00458601440.034
organic cyclic compound catabolic processGO:19013612950.034
Fly
regulation of cellular component sizeGO:00325351210.034
neural tube developmentGO:00219151600.034
tissue remodelingGO:00487711020.034
dephosphorylationGO:00163111290.034
transepithelial chloride transportGO:003032140.033
cellular divalent inorganic cation homeostasisGO:00725031270.033
inorganic cation transmembrane transportGO:00986622070.033
regulation of protein serine threonine kinase activityGO:00719001570.033
sensory system developmentGO:004888030.033
purine nucleoside triphosphate metabolic processGO:00091442260.033
Fly
negative regulation of protein metabolic processGO:00512482820.032
immune response regulating signaling pathwayGO:00027641250.032
negative regulation of sterol transportGO:003237240.032
ceramide metabolic processGO:0006672310.031
cell chemotaxisGO:0060326810.031
inflammatory responseGO:00069542440.031
regulation of cell morphogenesis involved in differentiationGO:00107691510.031
rac protein signal transductionGO:0016601130.031
establishment of mitochondrion localizationGO:005165440.031
myosin filament organizationGO:003103330.031
regulation of b cell activationGO:0050864810.031
negative regulation of growthGO:0045926990.031
cholesterol homeostasisGO:0042632440.030
developmental maturationGO:00217001930.030
renal system processGO:0003014480.030
negative regulation of cell proliferationGO:00082852960.030
embryonic limb morphogenesisGO:00303261260.030
lysosome organizationGO:0007040210.030
palate developmentGO:0060021760.029
heterocycle catabolic processGO:00467002800.029
Fly
glycosyl compound metabolic processGO:19016572460.029
Fly
bundle of his developmentGO:000316640.029
regulation of kinase activityGO:00435492490.029
sperm individualizationGO:000729110.029
endocrine system developmentGO:0035270980.029
negative regulation of inflammatory responseGO:0050728610.029
morphogenesis of embryonic epitheliumGO:00163311590.029
g protein coupled acetylcholine receptor signaling pathwayGO:000721340.029
regulation of phGO:0006885260.028
phospholipid transfer to membraneGO:000664920.028
muscle system processGO:00030121410.028
fat cell differentiationGO:00454441600.028
b cell activationGO:00421131610.028
positive regulation of membrane protein ectodomain proteolysisGO:005104430.028
positive regulation of digestive system processGO:006045620.028
myotube differentiationGO:00149021050.027
sterol esterificationGO:003443430.027
negative regulation of protein phosphorylationGO:00019331260.027
cellular response to acid chemicalGO:0071229680.027
regulation of systemic arterial blood pressureGO:0003073610.027
positive regulation of lymphocyte activationGO:00512511400.027
cellular response to amino acid stimulusGO:0071230290.027
nitrogen compound transportGO:00717052710.027
negative regulation of molecular functionGO:00440922580.027
photoreceptor cell differentiationGO:0046530520.027
regulation of canonical wnt signaling pathwayGO:0060828820.027
hindbrain developmentGO:00309021280.027
respiratory tube developmentGO:00303231670.026
glucose homeostasisGO:00425931280.026
cellular response to biotic stimulusGO:0071216920.026
positive regulation of cell activationGO:00508671580.025
limb morphogenesisGO:00351081490.025
bone developmentGO:00603481200.025
myeloid cell homeostasisGO:00022621140.025
positive regulation of kinase activityGO:00336741550.025
cell substrate adhesionGO:00315891300.025
regulation of cytokine productionGO:00018172660.025
regulation of meiotic cell cycleGO:0051445340.025
cellular response to growth factor stimulusGO:00713631970.025
positive regulation of macrophage chemotaxisGO:001075950.025
negative regulation of cell migrationGO:0030336590.025
establishment of tissue polarityGO:0007164280.025
tissue migrationGO:0090130680.025
neural precursor cell proliferationGO:00613511210.025
dipeptide transmembrane transportGO:003544220.024
ectodermal cell differentiationGO:001066830.024
myelination in peripheral nervous systemGO:0022011190.024
nucleoside catabolic processGO:00091642060.024
Fly
smad protein complex assemblyGO:000718310.024
organonitrogen compound catabolic processGO:19015652640.024
Fly
cellular response to transforming growth factor beta stimulusGO:0071560880.024
regulation of cellular response to oxidative stressGO:1900407190.024
organelle fissionGO:00482851700.024
posttranscriptional regulation of gene expressionGO:00106081550.024
regulation of bone resorptionGO:0045124240.024
response to lipopolysaccharideGO:00324961280.024
ph elevationGO:004585230.024
positive regulation of cell projection organizationGO:0031346950.024
t cell receptor signaling pathwayGO:0050852460.024
regulation of membrane protein ectodomain proteolysisGO:005104330.023
lipoprotein metabolic processGO:0042157430.023
regulation of oligopeptide transportGO:009008820.023
cognitionGO:00508901490.023
peptide metabolic processGO:0006518460.023
muscle cell differentiationGO:00426922610.023
cardiocyte differentiationGO:0035051870.023
establishment of body hair or bristle planar orientationGO:004810420.023
activation of mapk activityGO:0000187590.023
blood circulationGO:00080151950.023
cell differentiation in spinal cordGO:0021515530.023
regulation of adaptive immune responseGO:0002819900.023
ventricular compact myocardium morphogenesisGO:000322320.023
epithelial tube formationGO:00721751300.023
negative regulation of cardiac chamber morphogenesisGO:190122020.023
cholesterol metabolic processGO:0008203560.023
intracellular distribution of mitochondriaGO:004831210.023
reverse cholesterol transportGO:004369160.022
g protein coupled receptor signaling pathway coupled to cyclic nucleotide second messengerGO:0007187550.022
digestive tract morphogenesisGO:00485461470.022
cation transmembrane transportGO:00986552660.022
regulation of platelet activationGO:0010543170.022
regulation of cellular amino acid metabolic processGO:000652150.022
potassium ion transmembrane transportGO:0071805430.022
ion transmembrane transportGO:00342203610.022
vestibular reflexGO:006000540.022
calcium ion homeostasisGO:00550741270.022
cell fate specificationGO:0001708720.022
head morphogenesisGO:0060323340.022
fertilizationGO:00095661270.022
regulation of hydrolase activityGO:00513362460.022
organophosphate catabolic processGO:00464342320.021
Fly
placenta developmentGO:00018901400.021
immune response activating signal transductionGO:00027571160.021
adult walking behaviorGO:0007628410.021
auditory receptor cell developmentGO:0060117200.021
bone resorptionGO:0045453380.021
anatomical structure maturationGO:0071695490.021
maintenance of locationGO:0051235890.021
nuclear divisionGO:00002801580.021
cgmp metabolic processGO:0046068200.020
cell activation involved in immune responseGO:00022631260.020
positive regulation of leukocyte mediated immunityGO:0002705700.020
cardiac muscle tissue developmentGO:00487381300.020
positive regulation of protein catabolic processGO:0045732600.020
negative regulation of mapk cascadeGO:0043409650.020
neural tube formationGO:00018411080.020
positive regulation of protein serine threonine kinase activityGO:00719021060.020
sclerotome developmentGO:006105640.020
establishment of planar polarityGO:0001736280.020
oocyte anterior posterior axis specificationGO:000731420.020
regulation of protein complex assemblyGO:0043254830.020
purine ribonucleoside triphosphate catabolic processGO:00092071990.020
Fly
cellular nitrogen compound catabolic processGO:00442702800.020
Fly
body morphogenesisGO:0010171450.020
adenylate cyclase inhibiting g protein coupled receptor signaling pathwayGO:0007193200.019
membrane protein proteolysisGO:0033619100.019
purine containing compound metabolic processGO:00725213110.019
Fly
cilium morphogenesisGO:00602711020.019
regulation of coagulationGO:0050818310.019
carbohydrate biosynthetic processGO:0016051740.019
sensory perception of chemical stimulusGO:0007606510.019
positive regulation of transferase activityGO:00513471670.019
cellular response to cytokine stimulusGO:00713451890.019
gland developmentGO:00487323300.019
pilomotor reflexGO:009719530.019
divalent inorganic cation transportGO:00725111780.019
regulation of proteolysisGO:00301621640.019
cellular response to electrical stimulusGO:007125760.019
plasma lipoprotein particle clearanceGO:0034381130.019
regulation of renal sodium excretionGO:003581330.019
appendage developmentGO:00487361660.019
Fly
regulation of hormone levelsGO:00108172110.019
cofactor transportGO:005118140.019
negative regulation of membrane potentialGO:004583740.019
regulation of gtp catabolic processGO:00331241130.019
purine ribonucleoside catabolic processGO:00461302050.019
Fly
mitochondrion distributionGO:004831140.019
cellular protein catabolic processGO:00442571550.019
skeletal muscle organ developmentGO:00605381630.019
myeloid leukocyte migrationGO:0097529570.019
blastocyst developmentGO:0001824800.018
carbohydrate homeostasisGO:00335001280.018
proteasomal protein catabolic processGO:0010498980.018
negative regulation of type b pancreatic cell apoptotic processGO:200067530.018
regulation of cardiac chamber morphogenesisGO:190121920.018
myofibril assemblyGO:0030239340.018
skeletal system developmentGO:00015013560.018
leukocyte mediated immunityGO:00024431740.018
regulation of plasma lipoprotein particle levelsGO:0097006230.018
muscle tissue developmentGO:00605373080.018
purine ribonucleotide catabolic processGO:00091542080.018
Fly
regulation of transmembrane transportGO:00347621280.018
face developmentGO:0060324380.018
glycosyl compound catabolic processGO:19016582060.018
Fly
intracellular receptor signaling pathwayGO:0030522740.018
cellular response to ammonium ionGO:007124220.018
epithalamus developmentGO:002153820.018
regulation of wnt signaling pathwayGO:00301111230.018
myosin filament assemblyGO:003103420.018
regulation of protein kinase activityGO:00458592320.018
negative regulation of cholesterol transportGO:003237540.017
regulation of exocytosisGO:0017157610.017
calcium ion dependent exocytosisGO:0017156350.017
artery developmentGO:0060840530.017
regulation of organ morphogenesisGO:20000271440.017
positive regulation of neuron differentiationGO:00456661410.017
carboxylic acid biosynthetic processGO:0046394860.017
mammary placode formationGO:006059640.017
regulation of ras gtpase activityGO:0032318880.017
divalent metal ion transportGO:00708381720.017
triglyceride metabolic processGO:0006641510.017
spermatid developmentGO:00072861080.017
cardiac muscle cell developmentGO:0055013390.017
lamellipodium organizationGO:0097581290.017
positive regulation of protein modification processGO:00314012990.017
metanephric ascending thin limb developmentGO:007221820.017
regulation of phospholipase a2 activityGO:003242930.016
adenylate cyclase modulating g protein coupled receptor signaling pathwayGO:0007188540.016
regulation of t cell receptor signaling pathwayGO:0050856210.016
regulation of synaptic growth at neuromuscular junctionGO:000858240.016
positive regulation of skeletal muscle cell differentiationGO:200101640.016
renal system process involved in regulation of blood volumeGO:000197740.016
lipid biosynthetic processGO:00086101790.016
organic hydroxy compound metabolic processGO:19016152030.016
response to inorganic substanceGO:0010035960.016
regulation of intracellular transportGO:00323861590.016
response to oxidative stressGO:00069791230.016
striated muscle myosin thick filament assemblyGO:007168810.016
regulation of platelet derived growth factor receptor signaling pathwayGO:001064090.016
positive regulation of cell substrate adhesionGO:0010811470.016
positive regulation of potassium ion transportGO:004326830.016
regulation of endocytosisGO:0030100690.016
lipid modificationGO:0030258650.016
dna recombinationGO:0006310920.016
limb developmentGO:00601731660.016
regulation of skeletal muscle fiber differentiationGO:190280930.016
immune response activating cell surface receptor signaling pathwayGO:0002429720.016
positive regulation of gtp catabolic processGO:0033126850.016
vagus nerve morphogenesisGO:002164420.016
digestive system developmentGO:00551232000.016
dna metabolic processGO:00062593030.016
primary neural tube formationGO:0014020950.016
forebrain developmentGO:00309003020.016
regulation of systemic arterial blood pressure by atrial natriuretic peptideGO:000305020.016
retinal cone cell developmentGO:004654980.016
positive regulation of homeostatic processGO:0032846640.015
regulation of bone remodelingGO:0046850280.015
negative regulation of cellular protein metabolic processGO:00322692470.015
actomyosin structure organizationGO:0031032560.015
regulation of ossificationGO:00302781120.015
male gamete generationGO:00482322850.015
regulation of lipid transportGO:0032368360.015
exocytosisGO:00068871210.015
negative regulation of cellular amino acid metabolic processGO:004576300.015
pallium developmentGO:00215431200.015
response to light stimulusGO:00094161350.015
signal transduction by p53 class mediatorGO:0072331510.015
sperm motilityGO:0030317470.015
cholesterol transportGO:0030301380.015
metanephric dct cell differentiationGO:007224030.015
phospholipid transportGO:0015914210.015
adenylate cyclase activating g protein coupled receptor signaling pathwayGO:0007189300.015

Myo7a disease predictions

Disease predictions are made from cross-annotation of human disease genes to the identified functional analogs in mouse and predicted with the mouse functional network.

DiseaseDO term IDSizeProbabilityFunc Analog Org
nonsyndromic deafnessDOID:005056300.973
Human
auditory system diseaseDOID:274200.973
Human
sensory system diseaseDOID:005015500.973
Human
disease of anatomical entityDOID:700.973
Human
nervous system diseaseDOID:86300.973
Human
eye and adnexa diseaseDOID:149200.448
inherited metabolic disorderDOID:65500.382
disease of metabolismDOID:001466700.382
autosomal recessive nonsyndromic deafnessDOID:005056500.332
Human
eye diseaseDOID:561400.073
retinal diseaseDOID:567900.073
lysosomal storage diseaseDOID:321100.065
central nervous system diseaseDOID:33100.065
retinal degenerationDOID:846600.050
lipid storage diseaseDOID:945500.031
sphingolipidosisDOID:192700.031
cardiovascular system diseaseDOID:128700.026
autosomal dominant nonsyndromic deafnessDOID:005056400.020
Human
brain diseaseDOID:93600.017
cerebral degenerationDOID:144300.017
connective tissue diseaseDOID:6500.016
musculoskeletal system diseaseDOID:1700.016