Development Level

Tbio 2 | 11,445
Tclin 2 | 613

IMPC Phenotype

decreased heart left ventricle... 1 | 28
increased circulating chloride... 1 | 41
increased circulating sodium l... 1 | 71
thin ventricular wall 1 | 24

Disease

Carcinoma 4 | 11,493
Succinic semialdehyde dehydrogenase deficiency 4 | 16
adult high grade glioma 4 | 3,801
atypical teratoid / rhabdoid tumor 4 | 5,112
glioblastoma 4 | 5,792
medulloblastoma, large-cell 4 | 6,241
oligodendroglioma 4 | 2,850
Autistic Disorder 3 | 364
Autosomal recessive predisposition 3 | 1,442
Cognitive delay 3 | 608
Epilepsy 3 | 792
Global developmental delay 3 | 608
Mental and motor retardation 3 | 608
Seizures 3 | 596
astrocytic glioma 3 | 2,597
group 3 medulloblastoma 3 | 4,104
intraductal papillary-mucinous carcinoma (IPMC) 3 | 2,989
ovarian cancer 3 | 8,520
primitive neuroectodermal tumor 3 | 3,035
Alcoholic Intoxication, Chronic 2 | 289
Astrocytoma, Pilocytic 2 | 3,081
Bipolar Disorder 2 | 666
Cocaine-Related Disorders 2 | 92
Depressive Disorder, Major 2 | 19
Dull intelligence 2 | 645
Epilepsy characterized by intractable complex partial seizures 2 | 28
Hyperreflexia 2 | 209
Infantile onset 2 | 238
Intellectual disability 2 | 1,016
Low intelligence 2 | 645
Major Depressive Disorder 2 | 301
Mental Retardation 2 | 645
Mental deficiency 2 | 645
Mood Disorders 2 | 184
Muscle hypotonia 2 | 571
Pick disease 2 | 1,894
Poor school performance 2 | 645
Schizophrenia 2 | 1,160
adrenocortical carcinoma 2 | 1,428
cystic fibrosis 2 | 1,696
diabetes mellitus 2 | 1,728
ependymoma 2 | 4,679
interstitial cystitis 2 | 2,312
intraductal papillary-mucinous adenoma (IPMA) 2 | 2,955
intraductal papillary-mucinous neoplasm (IPMN) 2 | 3,291
lung cancer 2 | 4,740
lung carcinoma 2 | 2,843
nasopharyngeal carcinoma 2 | 1,058
non primary Sjogren syndrome sicca 2 | 891
osteosarcoma 2 | 7,950
pancreatic ductal adenocarcinoma liver metastasis 2 | 1,962
Abnormal behavior 1 | 52
Abnormal ocular motility 1 | 19
Abnormality of metabolism/homeostasis 1 | 134
Acquired scoliosis 1 | 281
Aggressive behavior 1 | 75
Aggressive reaction 1 | 75
Alzheimer's disease 1 | 658
Babinski Reflex 1 | 100
Cardiovascular system disease 1 | 246
Cerebral palsy 1 | 40
Contracture 1 | 96
Contracture of joint 1 | 93
Curvature of spine 1 | 282
Decreased tendon reflex 1 | 122
Delayed speech and language development 1 | 112
Downward slant of palpebral fissure 1 | 158
Dyskinesia, Drug-Induced 1 | 15
Electroencephalogram abnormal 1 | 101
Flexion contracture 1 | 93
Flexion contractures of joints 1 | 93
Gastroesophageal reflux disease 1 | 110
Gout 1 | 106
Hallucinations 1 | 34
Hallucinations, Sensory 1 | 33
Highly variable clinical phenotype 1 | 150
Highly variable phenotype and severity 1 | 150
Highly variable phenotype, even within families 1 | 150
Hypersensitivity reaction type II disease 1 | 253
Hypotonia, severe 1 | 33
Language Delay 1 | 112
Leukodystrophy 1 | 55
Liver Cirrhosis, Experimental 1 | 769
Motor delay 1 | 147
No development of motor milestones 1 | 147
Paraplegia 1 | 74
Parkinson's disease 1 | 392
Phenotypic variability 1 | 150
Physical aggression 1 | 76
Posterior fossa cyst 1 | 8
Psychotic Disorders 1 | 151
Retrognathia 1 | 54
Speech Delay 1 | 112
Speech impairment 1 | 112
Status Epilepticus 1 | 98
Unipolar Depression 1 | 250
Waldenstrons macroglobulinemia 1 | 765
active ulcerative colitis 1 | 764
breast carcinoma 1 | 1,638
medulloblastoma 1 | 720

Tissue

Digestive Tract 4 | 17,369
Endocrine System 4 | 18,159
Liver and Pancreas 4 | 16,750
Male tissues 4 | 17,142
Nervous System 4 | 16,725
Skin and soft tissues 4 | 17,230
Blood and immune system 3 | 16,909
Female tissues 3 | 17,400
Respiratory system 3 | 16,393
Urinary Tract 3 | 16,678
Cardiovascular System 2 | 15,192

Target Family

Enzyme 4 | 4,145

PathwayCommons: humancyc Pathway

http://pathwaycommons.org/pc2/... 4 | 4
http://pathwaycommons.org/pc2/... 68 | 68
http://pathwaycommons.org/pc2/... 38 | 38
http://pathwaycommons.org/pc2/... 37 | 37
http://pathwaycommons.org/pc2/... 27 | 27
http://pathwaycommons.org/pc2/... 27 | 27
http://pathwaycommons.org/pc2/... 27 | 27
http://pathwaycommons.org/pc2/... 25 | 25
http://pathwaycommons.org/pc2/... 23 | 23
http://pathwaycommons.org/pc2/... 22 | 22
http://pathwaycommons.org/pc2/... 22 | 22
http://pathwaycommons.org/pc2/... 21 | 21
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http://pathwaycommons.org/pc2/... 19 | 19
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http://pathwaycommons.org/pc2/... 5 | 5

This is where graphics are reside..
Name Gene Development Level Target Family Log Novelty  Pubmed Score  Antibody Count  Knowledge Availability 
Succinate-semialdehyde dehydrogenase, mitochondrial ALDH5A1 Tclin Enzyme -2.23586 168.4 347
Glutamate decarboxylase 2 GAD2 Tbio Enzyme -3.03047 1065.4 459
4-aminobutyrate aminotransferase, mitochondrial ABAT Tclin Enzyme -2.02391 104.3 204
Glutamate decarboxylase 1 GAD1 Tbio Enzyme -2.96960 896.3 529