Development Level

Tchem 5 | 1,598
Tbio 4 | 11,445
Tclin 2 | 613

Disease

Carcinoma 8 | 11,493
Autosomal recessive predisposition 7 | 1,442
Hepatomegaly 5 | 285
Big calvaria 4 | 147
Cerebellar Ataxia 4 | 304
Cognitive delay 4 | 608
Epilepsy 4 | 792
Failure to gain weight 4 | 365
Global developmental delay 4 | 608
Increased head circumference 4 | 147
Increased size of cranium 4 | 147
Increased size of skull 4 | 147
Mental and motor retardation 4 | 608
Pediatric failure to thrive 4 | 365
Seizures 4 | 596
Short stature 4 | 531
Splenomegaly 4 | 190
diabetes mellitus 4 | 1,728
group 4 medulloblastoma 4 | 1,855
lung cancer 4 | 4,740
lung carcinoma 4 | 2,843
ovarian cancer 4 | 8,520
psoriasis 4 | 6,694
Abnormality of the metaphyses 3 | 48
Anemia 3 | 365
Anteverted nostril 3 | 191
Aseptic Necrosis of Bone 3 | 8
Aseptic necrosis 3 | 8
Bone infarction 3 | 8
Bone necrosis 3 | 9
Bone pain 3 | 42
Breast cancer 3 | 3,578
Coarse facial features 3 | 108
Concave bridge of nose 3 | 195
Congenital deafness 3 | 185
Deafness 3 | 198
Delayed bone age 3 | 136
Depressed nasal bridge 3 | 195
Depressed nasal root/bridge 3 | 195
Dull intelligence 3 | 645
Gait abnormality 3 | 135
Glaucoma 3 | 239
Hearing Loss, Partial 3 | 185
Hemoglobin low 3 | 124
Hydrocephalus 3 | 152
Hyperreflexia 3 | 209
Intellectual disability 3 | 1,016
Knee joint valgus deformity 3 | 56
Long philtrum 3 | 137
Low intelligence 3 | 645
Mental Retardation 3 | 645
Mental deficiency 3 | 645
Muscle Spasticity 3 | 195
Muscle Weakness 3 | 170
Osteopetrosis 3 | 43
Osteoporosis 3 | 363
Poor school performance 3 | 645
Short nose 3 | 132
Small head 3 | 374
Small nose 3 | 132
Thickened facial skin with coarse facial features 3 | 108
Weight decreased 3 | 103
gastric carcinoma 3 | 807
hearing impairment 3 | 199
intraductal papillary-mucinous adenoma (IPMA) 3 | 2,955
intraductal papillary-mucinous carcinoma (IPMC) 3 | 2,989
intraductal papillary-mucinous neoplasm (IPMN) 3 | 3,291
lung adenocarcinoma 3 | 2,716
malignant mesothelioma 3 | 3,232
medulloblastoma, large-cell 3 | 6,241
osteosarcoma 3 | 7,950
pancreatic cancer 3 | 2,398
pancreatic ductal adenocarcinoma liver metastasis 3 | 1,962
pituitary cancer 3 | 1,972
Abnormal skeletal development 2 | 60
Arthrogryposis 2 | 54
Bell Palsy 2 | 58
Congenital pes cavus 2 | 88
Dysarthria 2 | 192
Facial Paresis 2 | 59
Facial muscle weakness of muscles innervated by CN VII 2 | 58
Frequent fractures 2 | 53
Frontal bossing 2 | 157
Highly variable clinical phenotype 2 | 150
Highly variable phenotype and severity 2 | 150
Highly variable phenotype, even within families 2 | 150
Increased fracture rate 2 | 53
Liver Cirrhosis, Experimental 2 | 769
Low Vision 2 | 174
Microstomia 2 | 78
Motor delay 2 | 147
Neuropathy 2 | 261
No development of motor milestones 2 | 147
Osteochondrodysplasias 2 | 72
Phenotypic variability 2 | 150
Recurrent respiratory infections 2 | 141
Retinal Diseases 2 | 55
Speech Disorders 2 | 58
Varying degree of multiple fractures 2 | 53
Visual Impairment 2 | 174

Tissue

Blood and immune system 11 | 16,909
Digestive Tract 11 | 17,369
Endocrine System 11 | 18,159
Female tissues 11 | 17,400
Liver and Pancreas 11 | 16,750
Male tissues 11 | 17,142
Nervous System 11 | 16,725
Respiratory system 11 | 16,393
Skin and soft tissues 11 | 17,230
Urinary Tract 11 | 16,678
Cardiovascular System 10 | 15,192

Target Family

Enzyme 4 | 4,145
Ion Channel 4 | 344
Non-IDG 2 | 12,091
Transporter 1 | 473

GO Process

response to pH 11 | 11
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 
Peptidyl-glycine alpha-amidating monooxygenase PAM Tchem Enzyme -2.61669 398.2 81
Arylsulfatase B ARSB Tbio Enzyme -2.51626 314.5 216
ATP-binding cassette sub-family C member 8 ABCC8 Tclin Transporter -2.92120 869.9 193
Alpha-tocopherol transfer protein TTPA Tbio Non-IDG -2.38323 247.5 79
Carbonic anhydrase 2 CA2 Tclin Enzyme -3.56786 3526.1 418
ATP-sensitive inward rectifier potassium channel 8 KCNJ8 Tbio Ion Channel -2.31405 197.3 142
Glucosylceramidase GBA Tchem Enzyme -3.22080 1617.1 299
H(+)/Cl(-) exchange transporter 7 CLCN7 Tchem Ion Channel -1.96458 100.7 151
Voltage-gated hydrogen channel 1 HVCN1 Tchem Ion Channel -2.68215 486.1 110
Gap junction alpha-1 protein GJA1 Tbio Non-IDG -3.59195 4122.5 889