Development Level

Tbio 8 | 11,445

Disease

Deafness dystonia syndrome 5 | 21
Dystonia 5 | 164
lung cancer 4 | 4,740
ovarian cancer 4 | 8,520
Carcinoma 3 | 11,493
osteosarcoma 3 | 7,950
pancreatic ductal adenocarcinoma liver metastasis 3 | 1,962
psoriasis 3 | 6,694
Abnormal posture 2 | 3
Barth syndrome 2 | 23
Cortical blindness 2 | 16
Dysarthria 2 | 192
Hyperreflexia 2 | 209
Low Vision 2 | 174
Muscle Spasticity 2 | 195
Muscle hypotonia 2 | 571
Optic Atrophy 2 | 242
Tremor 2 | 113
Visual Impairment 2 | 174
Visual field constriction 2 | 36
acute myeloid leukemia 2 | 783
diabetes mellitus 2 | 1,728
non primary Sjogren syndrome sicca 2 | 891
3-methylglutaconic aciduria type 3 1 | 7
Abnormal cortical bone morphology 1 | 22
Abnormal skeletal development 1 | 60
Abnormality of cranium shape 1 | 5
Abnormality of head shape 1 | 5
Abnormality of metabolism/homeostasis 1 | 134
Abnormality of the liver 1 | 21
Abnormality of the palate 1 | 17
Addison's disease 1 | 31
Appendiceal neoplasm 1 | 4
Asymmetry of head 1 | 5
Big calvaria 1 | 147
Blindness, Cortical 1 | 24
Celiac disease 1 | 116
Central nervous system demyelination 1 | 28
Cerebral calcification 1 | 43
Cervical Dystonia 1 | 26
Childhood onset 1 | 38
Cholelithiasis 1 | 33
Cortical visual impairment 1 | 24
Cranial asymmetry 1 | 5
Degenerative brain disorder 1 | 100
Deglutition Disorders 1 | 132
Dermatitis herpetiformis 1 | 12
Difficulties with night vision 1 | 87
Dystonia Disorders 1 | 6
Dystonia Musculorum Deformans 1 | 5
Dystonic Disorders 1 | 7
Elevated levels of phytanic acid 1 | 15
Flat back of the head 1 | 26
Hearing loss, progressive sensorineural 1 | 23
Hyperkyphosis 1 | 111
Immunoglobulin alpha deficiency 1 | 11
Increased bilirubin level (finding) 1 | 18
Increased head circumference 1 | 147
Increased size of cranium 1 | 147
Increased size of skull 1 | 147
Intermittent claudication 1 | 20
Intestinal disease 1 | 14
Iris disease 1 | 10
Irritable bowel syndrome 1 | 60
Jensen syndrome 1 | 6
Kyphosis deformity of spine 1 | 114
Lens subluxation 1 | 12
Lordosis 1 | 54
Malabsorption 1 | 82
Malformation of cranial vault shape 1 | 5
Malformation of cranium shape 1 | 5
Malformation of head shape 1 | 5
Mental deterioration 1 | 32
Microsporidiosis 1 | 13
Myoclonic dystonia 1 | 5
Narrow cranium shape 1 | 75
Narrow head shape 1 | 75
Narrow skull shape 1 | 75
Neonatal adrenoleukodystrophy 1 | 14
Ocular hypertension 1 | 42
Optic nerve disease 1 | 10
Organic writer's cramp 1 | 10
Paraganglioma 1 | 15
Peroxisome Biogenesis Disorder 1A (Zellweger) 1 | 12
Peroxisome Biogenesis Disorder 3B 1 | 11
Persistent generalized lymphadenopathy 1 | 15
Phimosis 1 | 5
Photodysphoria 1 | 121
Photophobia 1 | 121
Profound global developmental delay 1 | 17
Reduced visual acuity 1 | 63
Renal tubular disorder 1 | 12
Rhabdomyosarcoma 1 | 39
Sensorineural hearing loss 1 | 106
Spasmodic torticollis 1 | 17
Supratentorial atrophy 1 | 94
Torticollis 1 | 18
Turridolichocephaly 1 | 75
Underdeveloped brows 1 | 38
X- linked recessive 1 | 110

Tissue

Blood and immune system 8 | 16,909
Cardiovascular System 8 | 15,192
Digestive Tract 8 | 17,369
Endocrine System 8 | 18,159
Female tissues 8 | 17,400
Liver and Pancreas 8 | 16,750
Male tissues 8 | 17,142
Nervous System 8 | 16,725
Respiratory system 8 | 16,393
Skin and soft tissues 8 | 17,230
Urinary Tract 8 | 16,678

Target Family

Enzyme 5 | 4,145
Non-IDG 3 | 12,091

GO Process

chaperone-mediated protein tra... 8 | 8
transcription, DNA-templated 1,742 | 1,742
regulation of transcription, D... 1,135 | 1,135
G-protein coupled receptor sig... 1,053 | 1,053
signal transduction 1,005 | 1,005
positive regulation of transcr... 932 | 932
negative regulation of transcr... 683 | 683
positive regulation of transcr... 529 | 529
apoptotic process 511 | 511
cell differentiation 511 | 511
negative regulation of transcr... 492 | 492
neutrophil degranulation 484 | 484
negative regulation of apoptot... 479 | 479
positive regulation of cell pr... 470 | 470
innate immune response 469 | 469
multicellular organism develop... 460 | 460
cell adhesion 458 | 458
immune response 426 | 426
viral process 405 | 405
negative regulation of cell pr... 398 | 398
spermatogenesis 389 | 389
intracellular signal transduct... 376 | 376
inflammatory response 373 | 373
cell proliferation 366 | 366
post-translational protein mod... 356 | 356
protein transport 348 | 348
protein ubiquitination 347 | 347
cell division 345 | 345
regulation of transcription fr... 345 | 345
protein phosphorylation 334 | 334
nervous system development 321 | 321
positive regulation of apoptot... 320 | 320
response to drug 303 | 303
cell-cell signaling 300 | 300
positive regulation of gene ex... 297 | 297
transcription from RNA polymer... 286 | 286
protein deubiquitination 271 | 271
cell cycle 268 | 268
regulation of immune response 259 | 259
transport 255 | 255
regulation of apoptotic proces... 250 | 250
MAPK cascade 242 | 242
cell surface receptor signalin... 239 | 239
mRNA splicing, via spliceosome 236 | 236
protein polyubiquitination 222 | 222
angiogenesis 220 | 220
chemical synaptic transmission 219 | 219
cellular response to DNA damag... 217 | 217
proteolysis 217 | 217
proteasome-mediated ubiquitin-... 210 | 210
adaptive immune response 209 | 209
intracellular protein transpor... 209 | 209
DNA repair 206 | 206
leukocyte migration 206 | 206
protein homooligomerization 206 | 206
rRNA processing 204 | 204
extracellular matrix organizat... 198 | 198
visual perception 198 | 198
positive regulation of ERK1 an... 194 | 194
cellular protein metabolic pro... 192 | 192
brain development 188 | 188
axon guidance 186 | 186
Fc-epsilon receptor signaling ... 182 | 182
keratinization 182 | 182
cell migration 181 | 181
defense response to virus 181 | 181
positive regulation of cell mi... 179 | 179
regulation of cell proliferati... 177 | 177
in utero embryonic development 176 | 176
Wnt signaling pathway 175 | 175
cilium assembly 175 | 175
blood coagulation 170 | 170
RNA splicing 169 | 169
translation 169 | 169
mRNA processing 168 | 168
protein autophosphorylation 168 | 168
aging 167 | 167
response to hypoxia 166 | 166
T cell receptor signaling path... 164 | 164
heart development 164 | 164
negative regulation of canonic... 164 | 164
positive regulation of I-kappa... 164 | 164
ubiquitin-dependent protein ca... 164 | 164
ER to Golgi vesicle-mediated t... 162 | 162
protein stabilization 160 | 160
response to lipopolysaccharide 160 | 160
transcription initiation from ... 160 | 160
defense response to bacterium 159 | 159
protein folding 159 | 159
sensory perception of smell 157 | 157
homophilic cell adhesion via p... 156 | 156
transmembrane transport 154 | 154
negative regulation of gene ex... 151 | 151
interferon-gamma-mediated sign... 150 | 150
receptor-mediated endocytosis 150 | 150
ion transmembrane transport 148 | 148
peptidyl-serine phosphorylatio... 148 | 148
positive regulation of protein... 148 | 148
antigen processing and present... 143 | 143
DNA replication 142 | 142
cell cycle arrest 142 | 142

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