Development Level

Tbio 1 | 11,445

IMPC Phenotype

abnormal brain morphology 1 | 13
preweaning lethality, complete... 1 | 979

Disease

Abnormal metaphyseal trabeculation 1 | 1
Abnormal skeletal development 1 | 60
Abnormality of vision 1 | 40
Acquired scoliosis 1 | 281
Adducted thumb 1 | 22
Atrophy of dorsum of tongue 1 | 1
Atrophy of lingual surface 1 | 1
Atrophy of tongue papillae 1 | 1
Autonomic nervous system disorders 1 | 19
Blotching pigmentation of the skin 1 | 2
Broad ischia 1 | 2
Camptodactyly of 5th fingers 1 | 2
Cloudy cornea 1 | 33
Congenital clubfoot 1 | 109
Corneal stromal opacities 1 | 33
Curvature of spine 1 | 282
Decrease in jaw opening 1 | 5
Decreased pain sensation 1 | 17
Decreased projection of midface 1 | 105
Defective tooth enamel 1 | 31
Deglutition Disorders 1 | 132
Dysautonomia 1 | 20
Dystrophic tooth enamel 1 | 31
Enamel abnormalities 1 | 31
Femoral bowing 1 | 20
Flexion contracture - elbow 1 | 32
Flexion contracture of proximal interphalangeal joint 1 | 75
Frequent fractures 1 | 53
Frontal bossing 1 | 157
Generalized osteopenia 1 | 99
Hoarseness 1 | 31
Hyperhidrosis disorder 1 | 81
Hypernasal voice 1 | 39
Hypohidrosis 1 | 34
Hypoplastic iliac body 1 | 2
Hypotrophic malar bone 1 | 129
Hypotrophic midface 1 | 105
Idiopathic pulmonary arterial hypertension 1 | 40
Increased fracture rate 1 | 53
Increased sweating 1 | 81
Intermittent fever 1 | 15
Knee joint valgus deformity 1 | 56
Knee reflex absent 1 | 1
Lacrimation abnormality 1 | 4
Limited jaw mobility 1 | 5
Limited jaw opening 1 | 5
Malar flattening 1 | 129
Melanoma 1 | 711
Metaphyseal widening 1 | 22
Micromelia 1 | 58
Midface retrusion 1 | 105
Myotonia 1 | 10
Nasal voice 1 | 39
Osteochondrodysplasias 1 | 72
Osteopenia 1 | 99
Osteoporosis 1 | 363
Paranoid delusion 1 | 1
Paresthesia 1 | 32
Pathological fracture 1 | 20
Polycystic ovary syndrome 1 | 360
Pulmonary artery wall hypertrophy 1 | 2
Pulmonary hypertension 1 | 85
Pursed lips 1 | 2
Rarefaction of the metaphyses 1 | 1
Reactive airway disease 1 | 21
Respiratory Insufficiency 1 | 132
Respiratory distress 1 | 43
Respiratory function loss 1 | 121
STUVE-WIEDEMANN SYNDROME 1 | 1
Schwartz-Jampel syndrome 1 1 | 3
Short nose 1 | 132
Short palpebral fissure 1 | 38
Short phalanx of finger 1 | 32
Short tibia 1 | 9
Single transverse palmar crease 1 | 29
Skin cancer 1 | 469
Small midface 1 | 105
Small nose 1 | 132
Smooth dorsum of tongue 1 | 1
Splayed metaphyses 1 | 19
Square face 1 | 3
Stuve-Wiedemann dysplasia 1 | 1
Sweating 1 | 81
Talipes valgus 1 | 3
Thickened cortex of long bones 1 | 4
Thin rib 1 | 21
Thin skin 1 | 47
Tibial bowing 1 | 19
Toe contractures 1 | 5
Trismus 1 | 6
Ulnar deviation of the fingers 1 | 21
Varying degree of multiple fractures 1 | 53
Wide nasal base 1 | 2
atypical teratoid/rhabdoid tumor 1 | 357
breast carcinoma 1 | 1,638
cold-induced sweating syndrome 1 | 7
colon cancer 1 | 1,478
interstitial lung disease 1 | 298
progressive supranuclear palsy 1 | 676
pulmonary arterial hypertension 1 | 75

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

Non-IDG 1 | 12,091

OMIM Phenotype

Phenotype: Stuve-Wiedemann syn... 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 
Leukemia inhibitory factor receptor LIFR Tbio Non-IDG -2.35146 221.3 249