Development Level

Tchem 11 | 1,598
Tbio 6 | 11,445
Tdark 1 | 6,588

IMPC Phenotype

decreased circulating creatini... 1 | 39
enlarged lymph nodes 1 | 37
male infertility 1 | 123
small adrenal glands 1 | 16
small superior vagus ganglion 1 | 74

Disease

Carcinoma 14 | 11,493
ovarian cancer 12 | 8,520
Autosomal recessive predisposition 8 | 1,442
Intellectual disability 7 | 1,016
Muscle hypotonia 7 | 571
glioblastoma 7 | 5,792
Coarse facial features 6 | 108
Dull intelligence 6 | 645
Epilepsy 6 | 792
Hepatomegaly 6 | 285
Low intelligence 6 | 645
Mental Retardation 6 | 645
Mental deficiency 6 | 645
Multiple myeloma 6 | 1,332
Poor school performance 6 | 645
Seizures 6 | 596
Thickened facial skin with coarse facial features 6 | 108
diabetes mellitus 6 | 1,728
osteosarcoma 6 | 7,950
psoriasis 6 | 6,694
Cerebellar Ataxia 5 | 304
Gangliosidosis 5 | 20
Glycoproteinosis 5 | 12
Short stature 5 | 531
Splenomegaly 5 | 190
Vacuolated lymphocytes 5 | 8
malignant mesothelioma 5 | 3,232
Acquired scoliosis 4 | 281
Cardiomegaly 4 | 116
Cerebral atrophy 4 | 178
Cherry red spot of the macula 4 | 7
Congenital deafness 4 | 185
Curvature of spine 4 | 282
Deafness 4 | 198
Degenerative brain disorder 4 | 100
Frontal bossing 4 | 157
Fucosidosis 4 | 10
Hearing Loss, Partial 4 | 185
Hyperkyphosis 4 | 111
Hyperreflexia 4 | 209
Kidney cancer 4 | 2,613
Kyphosis deformity of spine 4 | 114
Macroglossia 4 | 65
Neurodegenerative disease 4 | 414
Orbital separation excessive 4 | 244
Pfaundler-Hurler Syndrome 4 | 12
Recurrent respiratory infections 4 | 141
Speech Disorders 4 | 58
Supratentorial atrophy 4 | 94
alpha-mannosidosis 4 | 8
atypical teratoid / rhabdoid tumor 4 | 5,112
hearing impairment 4 | 199
intraductal papillary-mucinous neoplasm (IPMN) 4 | 3,291
lung cancer 4 | 4,740
medulloblastoma, large-cell 4 | 6,241
tuberculosis 4 | 2,010
Angiokeratoma 3 | 9
Anterior beaking of lumbar vertebrae 3 | 4
Class III malocclusion 3 | 78
Cognitive delay 3 | 608
Congenital pectus carinatum 3 | 52
Corneal Opacity 3 | 53
Delayed bone age 3 | 136
Fabry disease 3 | 11
Full lower lip 3 | 64
Gait abnormality 3 | 135
Gaucher's disease 3 | 26
Gingival Hyperplasia 3 | 34
Gingival Hypertrophy 3 | 34
Gingival Overgrowth 3 | 36
Global developmental delay 3 | 608
Hernia 3 | 9
Hernia, Inguinal 3 | 89
Hypertrophy of lower jaw 3 | 78
Increased size of mandible 3 | 78
Laryngotracheitis 3 | 10
Mandibular hyperplasia 3 | 78
Mental and motor retardation 3 | 608
Muscle Spasticity 3 | 195
Myoclonic Epilepsies, Progressive 3 | 44
Neurogenic Muscular Atrophy 3 | 139
Neurogenic muscle atrophy, especially in the lower limbs 3 | 139
Prominent lower lip 3 | 64
Skeletal muscle atrophy 3 | 139
Spastic Quadriplegia 3 | 42
astrocytoma 3 | 1,146
ependymoma 3 | 4,679
inclusion-cell disease 3 | 16
intraductal papillary-mucinous carcinoma (IPMC) 3 | 2,989
mandibular excess (physical finding) 3 | 78
muscle degeneration 3 | 139
Brachycephaly 2 | 88
Broad cranium shape 2 | 88
Clouding of corneal stroma 2 | 50
Congenital anomaly of face 2 | 56
Dilated ventricles (finding) 2 | 121
Dysarthria 2 | 192
Flexion contractures of joints 2 | 93
Sensorineural Hearing Loss (disorder) 2 | 284
Wide skull shape 2 | 88

Tissue

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

Target Family

Enzyme 18 | 4,145

KEGG Pathway

Other glycan degradation 18 | 18
Metabolic pathways 1,263 | 1,263
Pathways in cancer 530 | 530
Olfactory transduction 414 | 414
Human papillomavirus infection 388 | 388
PI3K-Akt signaling pathway 349 | 349
HTLV-I infection 336 | 336
Endocytosis 310 | 310
MAPK signaling pathway 295 | 295
Epstein-Barr virus infection 280 | 280
Neuroactive ligand-receptor in... 276 | 276
Cytokine-cytokine receptor int... 267 | 267
Herpes simplex infection 262 | 262
Kaposi's sarcoma-associated he... 252 | 252
Viral carcinogenesis 251 | 251
Thermogenesis 232 | 232
Ras signaling pathway 230 | 230
Phagosome 229 | 229
Cellular senescence 228 | 228
Cell adhesion molecules (CAMs) 225 | 225
Rap1 signaling pathway 209 | 209
Regulation of actin cytoskelet... 207 | 207
cAMP signaling pathway 201 | 201
Focal adhesion 198 | 198
Proteoglycans in cancer 198 | 198
Natural killer cell mediated c... 197 | 197
Huntington's disease 194 | 194
Tuberculosis 189 | 189
Calcium signaling pathway 183 | 183
Chemokine signaling pathway 183 | 183
Influenza A 182 | 182
Axon guidance 174 | 174
Purine metabolism 172 | 172
Alzheimer's disease 171 | 171
Transcriptional misregulation ... 171 | 171
Tight junction 169 | 169
Hepatocellular carcinoma 168 | 168
NOD-like receptor signaling pa... 166 | 166
Protein processing in endoplas... 164 | 164
RNA transport 163 | 163
cGMP-PKG signaling pathway 162 | 162
Jak-STAT signaling pathway 161 | 161
Cushing's syndrome 158 | 158
Antigen processing and present... 156 | 156
Hippo signaling pathway 154 | 154
Necroptosis 154 | 154
Oxytocin signaling pathway 154 | 154
MicroRNAs in cancer 150 | 150
mTOR signaling pathway 150 | 150
Non-alcoholic fatty liver dise... 149 | 149
Gastric cancer 148 | 148
Retrograde endocannabinoid sig... 148 | 148
Adrenergic signaling in cardio... 147 | 147
Alcoholism 147 | 147
Breast cancer 147 | 147
Phospholipase D signaling path... 147 | 147
Wnt signaling pathway 145 | 145
Hepatitis B 143 | 143
Parkinson's disease 142 | 142
Estrogen signaling pathway 139 | 139
Apoptosis 138 | 138
Fluid shear stress and atheros... 138 | 138
Signaling pathways regulating ... 138 | 138
Insulin signaling pathway 137 | 137
Ubiquitin mediated proteolysis 137 | 137
Viral myocarditis 137 | 137
Apelin signaling pathway 136 | 136
Dopaminergic synapse 135 | 135
Ribosome 134 | 134
Measles 133 | 133
Oxidative phosphorylation 133 | 133
Relaxin signaling pathway 133 | 133
Spliceosome 132 | 132
Autoimmune thyroid disease 130 | 130
FoxO signaling pathway 130 | 130
Hepatitis C 130 | 130
Autophagy - animal 128 | 128
Osteoclast differentiation 127 | 127
Cell cycle 125 | 125
Platelet activation 125 | 125
Toxoplasmosis 125 | 125
Lysosome 123 | 123
Vascular smooth muscle contrac... 123 | 123
Type I diabetes mellitus 122 | 122
Oocyte meiosis 121 | 121
AMPK signaling pathway 120 | 120
Graft-versus-host disease 120 | 120
Neurotrophin signaling pathway 119 | 119
Th17 cell differentiation 119 | 119
Sphingolipid signaling pathway 118 | 118
Allograft rejection 116 | 116
Carbon metabolism 116 | 116
Glutamatergic synapse 116 | 116
Thyroid hormone signaling path... 116 | 116
Serotonergic synapse 114 | 114
Leukocyte transendothelial mig... 112 | 112
Cholinergic synapse 111 | 111
Hematopoietic cell lineage 108 | 108
Systemic lupus erythematosus 108 | 108
TNF signaling pathway 108 | 108
Insulin resistance 107 | 107

This is where graphics are reside..
Name Gene Development Level Target Family Log Novelty  Pubmed Score  Antibody Count  Knowledge Availability 
Non-lysosomal glucosylceramidase GBA2 Tchem Enzyme -1.62330 43.1 59
Hexosaminidase D HEXDC Tbio Enzyme -0.60206 3.83 63
Sialidase-3 NEU3 Tbio Enzyme -2.02704 118.2 35
Lysosomal alpha-mannosidase MAN2B1 Tchem Enzyme -2.18158 152.9 35
Cytosolic endo-beta-N-acetylglucosaminidase ENGASE Tchem Enzyme -1.91874 76.6 60
Beta-mannosidase MANBA Tchem Enzyme -2.02551 103.8 50
Sialidase-1 NEU1 Tbio Enzyme -2.07548 116.0 278
Alpha-mannosidase 2C1 MAN2C1 Tbio Enzyme -2.29349 188.5 81
Glucosylceramidase GBA Tchem Enzyme -3.22080 1617.1 299
Epididymis-specific alpha-mannosidase MAN2B2 Tdark Enzyme -0.56418 3.49 38