Development Level

Tchem 1 | 1,598

IMPC Phenotype

decreased red blood cell distr... 1 | 41
decreased spleen weight 1 | 10
embryonic lethality prior to t... 1 | 278
preweaning lethality, complete... 1 | 979

Disease

Abnormality of the immune system 1 | 18
Angle class 2 malocclusion 1 | 57
Angle class 3 malocclusion 1 | 57
Arthrogryposis 1 | 54
Autosomal recessive predisposition 1 | 1,442
Barrett's esophagus 1 | 182
Bell Palsy 1 | 58
Blepharoptosis 1 | 231
Breast cancer 1 | 3,578
Breast giant fibroadenoma 1 | 4
Byzanthine arch palate 1 | 194
Carcinoma 1 | 11,493
Class III malocclusion 1 | 78
Congenital myasthenic syndrome 1 | 25
Congenital myasthenic syndrome with tubular aggregates 1 1 | 1
Decreased muscle mass 1 | 28
Decreased size of nerve terminals 1 | 4
Deglutition Disorders 1 | 132
Dysarthria 1 | 192
EMG: decrement at repetitive stimulation 1 | 4
EMG: decremental response of compound muscle action potential to repetitive nerve stimulation 1 | 4
Easy fatigability 1 | 18
Exocrine pancreatic insufficiency 1 | 32
Facial Paresis 1 | 59
Facial muscle weakness of muscles innervated by CN VII 1 | 58
Feeding difficulties 1 | 127
Gowers sign 1 | 24
Gowers sign present 1 | 24
Highly variable severity 1 | 157
Hyperglycemia 1 | 137
Hypertrophy of lower jaw 1 | 78
Increased size of mandible 1 | 78
Infantile onset 1 | 238
Long face 1 | 71
MYASTHENIC SYNDROME, CONGENITAL, 12 1 | 1
Malocclusion 1 | 57
Mandibular hyperplasia 1 | 78
Mildly increased creatine kinase 1 | 20
Motor delay 1 | 147
Muscle Cramp 1 | 55
Muscle atrophy, proximal 1 | 11
Muscle hypotonia 1 | 571
Myasthenias 1 | 8
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency 1 | 5
Myasthenic Syndromes, Congenital 1 | 16
Myasthenic syndrome, congenital, type Id 1 | 2
Neck muscle weakness 1 | 17
Neurogenic Muscular Atrophy 1 | 139
Neurogenic muscle atrophy, especially in the lower limbs 1 | 139
No development of motor milestones 1 | 147
Nonprogressive 1 | 12
Obesity 1 | 678
Ophthalmoparesis 1 | 11
Pancreatic steatorrhea 1 | 6
Reduced fetal movement 1 | 51
Respiratory insufficiency due to muscle weakness 1 | 37
Skeletal muscle atrophy 1 | 139
Steatorrhea 1 | 34
Strabismus 1 | 270
Tires quickly 1 | 18
Type 2 fiber atrophy 1 | 8
Variable expressivity 1 | 157
Waddling gait 1 | 34
Weak cry 1 | 17
X-linked cerebral adrenoleukodystrophy 1 | 116
diabetes mellitus 1 | 1,728
gastric cancer 1 | 459
group 3 medulloblastoma 1 | 4,104
hepatocellular carcinoma 1 | 547
intraductal papillary-mucinous adenoma (IPMA) 1 | 2,955
intraductal papillary-mucinous carcinoma (IPMC) 1 | 2,989
intraductal papillary-mucinous neoplasm (IPMN) 1 | 3,291
invasive ductal carcinoma 1 | 2,951
juvenile dermatomyositis 1 | 1,187
lung adenocarcinoma 1 | 2,716
lung carcinoma 1 | 2,843
mandibular excess (physical finding) 1 | 78
muscle degeneration 1 | 139
non-small cell lung cancer 1 | 2,890
osteosarcoma 1 | 7,950
ovarian cancer 1 | 8,520
pancreatic cancer 1 | 2,398
pancreatic carcinoma 1 | 562
psoriasis 1 | 6,694
tuberculosis 1 | 2,010

Tissue

Blood and immune system 1 | 16,909
Cardiovascular System 1 | 15,192
Digestive Tract 1 | 17,369
Endocrine System 1 | 18,159
Female tissues 1 | 17,400
Liver and Pancreas 1 | 16,750
Male tissues 1 | 17,142
Nervous System 1 | 16,725
Respiratory system 1 | 16,393
Skin and soft tissues 1 | 17,230
Urinary Tract 1 | 16,678

Target Family

Enzyme 1 | 4,145

OMIM Phenotype

Phenotype: Myasthenia, congeni... 1 | 1
Abacavir hypersensitivity, sus... 35 | 35
Phenotype: {Spondyloarthropath... 35 | 35
Stevens-Johnson syndrome, susc... 35 | 35
Synovitis, chronic, susceptibi... 35 | 35
Toxic epidermal necrolysis, su... 35 | 35
Phenotype: {Hypersensitivity s... 21 | 21
HIV-1 viremia, susceptibility ... 14 | 14
Phenotype: {Psoriasis suscepti... 14 | 14
Multiple sclerosis, susceptibi... 13 | 13
Phenotype: {Sarcoidosis, susce... 13 | 13
Colorectal cancer, somatic 8 | 8
Gastric cancer, somatic 6 | 6
Diabetes mellitus, noninsulin-... 5 | 5
Pheochromocytoma 5 | 5
ACTH-independent macronodular ... 4 | 4
Alzheimer disease, susceptibil... 4 | 4
Malaria, resistance to 4 | 4
McCune-Albright syndrome, soma... 4 | 4
Mycobacterium tuberculosis, su... 4 | 4
Osseous heteroplasia, progress... 4 | 4
Phenotype: Colorectal cancer, ... 4 | 4
Phenotype: Pseudohypoparathyro... 4 | 4
Phenotype: [Blood group 4 | 4
Phenotype: {Myocardial infarct... 4 | 4
Phenotype: {Schizophrenia, sus... 4 | 4
Pituitary adenoma 3, multiple ... 4 | 4
Pseudohypoparathyroidism Ib 4 | 4
Pseudohypoparathyroidism Ic 4 | 4
Pseudopseudohypoparathyroidism 4 | 4
Renal tubular dysgenesis 4 | 4
Tetralogy of Fallot 4 | 4
Afibrinogenemia, congenital 3 | 3
Aplastic anemia 3 | 3
Bladder cancer, somatic 3 | 3
COACH syndrome 3 | 3
Central hypoventilation syndro... 3 | 3
Dejerine-Sottas disease 3 | 3
Diabetes mellitus, permanent n... 3 | 3
LADD syndrome 3 | 3
Leukemia, acute myeloid 3 | 3
Lung cancer, susceptibility to 3 | 3
Mismatch repair cancer syndrom... 3 | 3
Multiple pterygium syndrome, l... 3 | 3
Myocardial infarction, suscept... 3 | 3
Neuropathy, distal hereditary ... 3 | 3
Omenn syndrome 3 | 3
Paraganglioma and gastric stro... 3 | 3
Parkinson disease, susceptibil... 3 | 3
Phenotype: Anterior segment dy... 3 | 3
Phenotype: Bethlem myopathy 1 3 | 3
Phenotype: Dysfibrinogenemia, ... 3 | 3
Phenotype: Epilepsy, progressi... 3 | 3
Phenotype: Leigh syndrome due ... 3 | 3
Phenotype: Orthostatic intoler... 3 | 3
Phenotype: {Breast cancer, sus... 3 | 3
Prostate cancer, susceptibilit... 3 | 3
Retinitis punctata albescens 3 | 3
Roussy-Levy syndrome 3 | 3
Schimmelpenning-Feuerstein-Mim... 3 | 3
Schizencephaly 3 | 3
Ullrich congenital muscular dy... 3 | 3
Arthrogryposis, distal, type 2... 2 | 2
Asthma, susceptibility to 2 | 2
Brachydactyly, type A2 2 | 2
Cerebrooculofacioskeletal synd... 2 | 2
De Sanctis-Cacchione syndrome 2 | 2
Epidermolysis bullosa simplex,... 2 | 2
Epidermolysis bullosa simplex,... 2 | 2
Epidermolysis bullosa simplex,... 2 | 2
Hypercholesterolemia, familial... 2 | 2
Hypofibrinogenemia, congenital 2 | 2
Ichthyosis, cyclic, with epide... 2 | 2
Jackson-Weiss syndrome 2 | 2
Leukemia, acute lymphoblastic,... 2 | 2
Leukemia, acute myeloid, somat... 2 | 2
Macular degeneration, age-rela... 2 | 2
Melanoma, cutaneous malignant,... 2 | 2
Microvascular complications of... 2 | 2
Ovarian cancer, somatic 2 | 2
Phenotype: Cockayne syndrome, ... 2 | 2
Phenotype: Epidermodysplasia v... 2 | 2
Phenotype: Epidermolysis bullo... 2 | 2
Phenotype: Epidermolytic hyper... 2 | 2
Phenotype: Hemochromatosis 2 | 2
Phenotype: Lacticacidemia due ... 2 | 2
Phenotype: Meesmann corneal dy... 2 | 2
Phenotype: Obesity, severe 2 | 2
Phenotype: Paroxysmal nonkines... 2 | 2
Phenotype: T-cell immunodefici... 2 | 2
Phenotype: Vitreoretinopathy, ... 2 | 2
Phenotype: {Alcohol dependence... 2 | 2
Phenotype: {Diabetes mellitus,... 2 | 2
Phenotype: {Nephrolithiasis, u... 2 | 2
Pick disease 2 | 2
Porphyria cutanea tarda, susce... 2 | 2
Porphyria variegata, susceptib... 2 | 2
Premature ovarian failure 11 2 | 2
Restrictive dermopathy, lethal 2 | 2
UV-sensitive syndrome 1 2 | 2
[Transferrin serum level QTL2] 2 | 2

This is where graphics are reside..
Name Gene Development Level Target Family Log Novelty  Pubmed Score  Antibody Count  Knowledge Availability 
Glutamine--fructose-6-phosphate aminotransferase [isomerizing] 1 GFPT1 Tchem Enzyme -2.79406 584.2 135