Development Level

Tbio 4 | 11,445

IMPC Phenotype

abnormal kidney morphology 1 | 65
abnormal spleen morphology 1 | 55
abnormal urinary bladder morph... 1 | 11
cystolithiasis 1 | 3
enlarged kidney 1 | 14
enlarged spleen 1 | 41
enlarged urinary bladder 1 | 8
improved glucose tolerance 1 | 79
increased body length 1 | 32
polycystic kidney 1 | 15
small kidney 1 | 16

Disease

Autosomal recessive predisposition 3 | 1,442
Carcinoma 3 | 11,493
Kidney Failure 3 | 111
Nephrolithiasis 3 | 56
Renal Insufficiency 3 | 90
Renal failure in adulthood 3 | 76
atypical teratoid / rhabdoid tumor 3 | 5,112
Argininuria 2 | 2
Cerebral atrophy 2 | 178
Cognitive delay 2 | 608
Congenital neurologic anomalies 2 | 20
Cystinuria 2 | 18
Degenerative brain disorder 2 | 100
Epilepsy 2 | 792
Failure to gain weight 2 | 365
Frontal bossing 2 | 157
Global developmental delay 2 | 608
Growth delay 2 | 114
Growth failure 2 | 114
Growth retardation 2 | 115
Highly variable severity 2 | 157
Hyperlysinuria 2 | 3
Lysinuric protein intolerance 2 | 15
Mental and motor retardation 2 | 608
Muscle hypotonia 2 | 571
Ornithinuria 2 | 2
Pediatric failure to thrive 2 | 365
Poor growth 2 | 114
Recurrent urinary tract infection 2 | 24
Supratentorial atrophy 2 | 94
Variable expressivity 2 | 157
Very poor growth 2 | 114
diabetes mellitus 2 | 1,728
glioblastoma 2 | 5,792
medulloblastoma, large-cell 2 | 6,241
nephrosclerosis 2 | 333
osteosarcoma 2 | 7,950
pancreatic cancer 2 | 2,398
ulcerative colitis 2 | 1,819
Abnormal urinary amino-acid findings 1 | 38
Adult Fanconi syndrome 1 | 12
Aminoaciduria 1 | 38
Barrett's esophagus 1 | 182
Blepharoptosis 1 | 231
Chronic kidney disease stage 5 1 | 31
Constipation 1 | 181
Cystinosis 1 | 14
Deglutition Disorders 1 | 132
Dehydration 1 | 40
Delayed Puberty 1 | 97
Dyschezia 1 | 135
Exocrine pancreatic insufficiency 1 | 32
Fanconi syndrome 1 | 14
Fatigue 1 | 182
Glycosuria 1 | 29
Hair hypopigmentation 1 | 12
Hartnup disease 1 | 13
Hyperactive behavior 1 | 91
Hyperchloremic metabolic acidosis 1 | 5
Hypernasal voice 1 | 39
Hyperphagia 1 | 23
Hyperphosphaturia 1 | 21
Hypocalcemia 1 | 32
Hypohidrosis 1 | 34
Hypokalemia 1 | 52
Hypophosphatemia 1 | 40
Hypopigmentation disorder 1 | 25
Increased appetite (finding) 1 | 23
Irritation - emotion 1 | 68
Kidney Diseases 1 | 114
Knee joint valgus deformity 1 | 56
Long eyelashes 1 | 37
Long narrow head 1 | 75
Microscopic hematuria 1 | 9
Mitochondrial respiratory chain defects 1 | 15
Moderate mental retardation (I.Q. 35-49) 1 | 28
Narrow cranium shape 1 | 75
Narrow head shape 1 | 75
Narrow skull shape 1 | 75
Nasal voice 1 | 39
Nephritis, Tubulointerstitial 1 | 8
Pancreatic Insufficiency 1 | 13
Photodysphoria 1 | 121
Photophobia 1 | 121
Polydipsia 1 | 15
Polyuria 1 | 23
Progressive neurologic deterioration 1 | 19
Reduced fetal movement 1 | 51
Reduced visual acuity 1 | 63
Renal tubular disorder 1 | 12
Retinal Diseases 1 | 55
Retinitis pigmentosa 28 1 | 19
Retrognathia 1 | 54
Rickets 1 | 49
Serine deficiency 1 | 9
Spastic Quadriplegia 1 | 42
Turridolichocephaly 1 | 75
Urine phosphorous concentration above normal 1 | 21
X-linked cerebral adrenoleukodystrophy 1 | 116
facioscapulohumeral dystrophy 1 | 288

Tissue

Blood and immune system 4 | 16,909
Digestive Tract 4 | 17,369
Endocrine System 4 | 18,159
Female tissues 4 | 17,400
Liver and Pancreas 4 | 16,750
Male tissues 4 | 17,142
Nervous System 4 | 16,725
Respiratory system 4 | 16,393
Skin and soft tissues 4 | 17,230
Urinary Tract 4 | 16,678
Cardiovascular System 3 | 15,192

Target Family

Transporter 3 | 473
Non-IDG 1 | 12,091

GO Process

L-cystine transport 4 | 4
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 
Neutral and basic amino acid transport protein rBAT SLC3A1 Tbio Transporter -2.60836 401.8 140
Cystinosin CTNS Tbio Non-IDG -2.31471 205.6 165
Neutral amino acid transporter A SLC1A4 Tbio Transporter -1.77799 59.3 148
b(0,+)-type amino acid transporter 1 SLC7A9 Tbio Transporter -1.94552 85.8 55