Development Level

Tbio 2 | 11,445
Tclin 1 | 613

IMPC Phenotype

increased circulating alkaline... 1 | 122

Disease

Angiokeratoma 2 | 9
Cataract 2 | 297
Coarse facial features 2 | 108
Epilepsy 2 | 792
Fabry disease 2 | 11
Full lower lip 2 | 64
Gaucher's disease 2 | 26
Hyperkeratosis 2 | 50
Impaired cognition 2 | 96
Lens Opacities 2 | 231
Lymphatic obstruction 2 | 21
Lymphedema 2 | 42
Mental impairment 2 | 95
Multiple, subcutaneous nodules 2 | 53
Onset of lymphedema around puberty 2 | 21
Optic Atrophy 2 | 242
Prominent lower lip 2 | 64
Seizures 2 | 596
Subcutaneous nodule 2 | 53
Telangiectasia of the skin 2 | 39
Thickened facial skin with coarse facial features 2 | 108
colon cancer 2 | 1,478
glioblastoma 2 | 5,792
subependymal giant cell astrocytoma 2 | 2,287
Abdominal Pain 1 | 98
Abnormal urinary amino-acid findings 1 | 38
Abnormality of aortic valve 1 | 9
Abnormality of the renal tubule 1 | 7
Aminoaciduria 1 | 38
Angina Pectoris 1 | 32
Angioectasias of the lip 1 | 4
Anorexia 1 | 43
Arthralgia 1 | 90
Atrioventricular block 1 | 35
Atrioventricular nodal disease 1 | 10
Autonomic nervous system disorders 1 | 19
Axonal degeneration 1 | 7
Axonal neuropathy 1 | 27
Blindness, Cortical 1 | 24
Brainstem abnormalities 1 | 7
Bundle-Branch Block 1 | 8
Cardiac conduction abnormalities 1 | 78
Cardiomegaly 1 | 116
Cloudy cornea 1 | 33
Conjunctival telangiectasis 1 | 14
Corneal stromal opacities 1 | 33
Cortical visual impairment 1 | 24
Delayed Puberty 1 | 97
Diabetic cataract 1 | 7
Distal sensory impairment 1 | 52
Distal sensory impairment of all modalities 1 | 7
Dizziness 1 | 26
Dry skin 1 | 75
Dysautonomia 1 | 20
EKG abnormalities 1 | 78
Electrocardiogram change 1 | 78
Extrapyramidal Disorders 1 | 29
Extrapyramidal sign 1 | 29
Fabry's disease 1 | 2
Fatigue 1 | 182
Fucosidosis 1 | 10
Generalized osteopenia 1 | 99
Hand deformities 1 | 32
Hematuria 1 | 36
Hemiplegia and hemiparesis 1 | 38
Hyperlipidemia 1 | 43
Kidney Diseases 1 | 114
Kidney damage 1 | 25
Left Ventricular Hypertrophy 1 | 47
Lip telangiectases 1 | 4
Mild Mental Retardation 1 | 70
Mitral regurgitation, mild 1 | 32
Mitral valve insufficiency 1 | 49
Muscle Cramp 1 | 55
Muscle Weakness 1 | 170
Muscular fasciculation 1 | 22
Myalgia 1 | 54
Myocardial Infarction 1 | 151
Myoclonus 1 | 74
Nausea 1 | 20
Nausea and vomiting 1 | 97
Nephrotic Syndrome 1 | 78
Neuroaxonal Dystrophies 1 | 2
Neuroaxonal dystrophy 1 | 8
Osteopenia 1 | 99
Papule 1 | 43
Paresthesia 1 | 32
Perinatal necrotizing enterocolitis 1 | 21
Peripheral Neuropathy 1 | 134
Peripheral axonal neuropathy 1 | 18
Pulmonary emphysema 1 | 48
Pyramidal sign 1 | 29
Spider veins of the lip 1 | 4
Tay-Sachs disease 1 | 6
Thick vermilion border 1 | 25
Tinnitus 1 | 19
Transient Cerebral Ischemia 1 | 25
Vertigo 1 | 29
X- linked recessive 1 | 110
Xerosis 1 | 75

Tissue

Blood and immune system 2 | 16,909
Cardiovascular System 2 | 15,192
Digestive Tract 2 | 17,369
Endocrine System 2 | 18,159
Female tissues 2 | 17,400
Liver and Pancreas 2 | 16,750
Male tissues 2 | 17,142
Nervous System 2 | 16,725
Respiratory system 2 | 16,393
Skin and soft tissues 2 | 17,230
Urinary Tract 2 | 16,678

Target Family

Enzyme 3 | 4,145

GO Process

glycosylceramide catabolic pro... 3 | 3
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

This is where graphics are reside..
Name Gene Development Level Target Family Log Novelty  Pubmed Score  Antibody Count  Knowledge Availability 
Alpha-galactosidase A GLA Tclin Enzyme -3.00418 985.0 249
Alpha-N-acetylgalactosaminidase NAGA Tbio Enzyme -2.21917 159.3 96
Cytosolic beta-glucosidase GBA3 Tbio Enzyme -1.57209 25.2 0