Development Level

Tbio 2 | 11,445
Tchem 1 | 1,598

IMPC Phenotype

abnormal behavior 1 | 298
abnormal bone structure 1 | 187
abnormal clavicle morphology 1 | 6
abnormal cranium morphology 1 | 36
abnormal femur morphology 1 | 14
abnormal fibula morphology 1 | 2
abnormal humerus morphology 1 | 11
abnormal joint morphology 1 | 23
abnormal pelvic girdle bone mo... 1 | 12
abnormal radius morphology 1 | 8
abnormal rib morphology 1 | 10
abnormal scapula morphology 1 | 3
abnormal tibia morphology 1 | 14
abnormal ulna morphology 1 | 8
abnormal vertebrae morphology 1 | 18
absent mammary gland 1 | 1
decreased body length 1 | 101
decreased bone mineral content 1 | 151
decreased bone mineral density 1 | 126
decreased circulating HDL chol... 1 | 68
decreased circulating calcium ... 1 | 36
decreased circulating choleste... 1 | 93
decreased circulating glucose ... 1 | 126
decreased circulating phosphat... 1 | 27
decreased grip strength 1 | 116
decreased skeletal muscle mass 1 | 1
decreased total body fat amoun... 1 | 207
decreased vertical activity 1 | 208
hypoactivity 1 | 132
increased circulating alkaline... 1 | 122
increased circulating bilirubi... 1 | 16
short tibia 1 | 97
small heart 1 | 10
small kidney 1 | 16
small ovary 1 | 1
small spleen 1 | 19
small uterus 1 | 3
thin skin 1 | 2

Disease

Carcinoma 3 | 11,493
Autosomal recessive predisposition 2 | 1,442
Cancer 2 | 2,499
Femoral bowing 2 | 20
Frontal bossing 2 | 157
Hypocalcemic vitamin D-dependent rickets 2 | 2
Rickets 2 | 49
Vitamin D-dependent rickets, type 1 2 | 2
malignant mesothelioma 2 | 3,232
osteosarcoma 2 | 7,950
ovarian cancer 2 | 8,520
psoriasis 2 | 6,694
'Bulging' epiphyses 1 | 3
ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS 1 | 1
ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS 1 | 3
Abnormal sex determination 1 | 11
Abnormalities of placenta or umbilical cord 1 | 1
Abnormality of the endocrine system 1 | 9
Abnormality of the labia majora 1 | 2
Abnormality of the menstrual cycle 1 | 4
Absence of secondary sex characteristics 1 | 22
Acute cor pulmonale 1 | 5
Addison's disease 1 | 31
Adrenal Hyperplasia, Congenital 1 | 9
Adrenocorticotropic hormone excess 1 | 5
Adrenogenital Syndrome 1 | 6
Ambiguous Genitalia 1 | 24
Amenorrhea 1 | 58
Antley-Bixler Syndrome Phenotype 1 | 2
Antley-Bixler Syndrome with Disordered Steroidogenesis 1 | 1
Antley-Bixler syndrome 1 | 16
Atresia of vagina 1 | 10
Bifid scrotum 1 | 16
Bone Diseases, Metabolic 1 | 14
Bronchomalacia 1 | 7
Cell Transformation, Neoplastic 1 | 97
Choanal Atresia 1 | 42
Choanal stenosis 1 | 11
Chordee 1 | 6
Congenital anomaly of the kidney 1 | 12
Decreased fertility in females 1 | 20
Decreased male fertility 1 | 7
Decreased testosterone level 1 | 4
Deficiency of testosterone biosynthesis 1 | 6
Delayed Puberty 1 | 97
Delayed epiphyseal ossification 1 | 10
Delayed maturation of end part of long bone 1 | 10
Ectopic adrenal gland 1 | 2
Endocrine System Diseases 1 | 11
Enlarged polycystic ovaries 1 | 10
Enlargement of the ankles 1 | 3
Enlargement of the costochondral junction 1 | 4
Enlargement of the wrists 1 | 5
Female external genitalia in males 1 | 13
Female sexual dysfunction 1 | 2
Fibular bowing 1 | 5
Fused labia minora 1 | 5
Generalized aminoaciduria 1 | 9
Generalized hyperpigmentation 1 | 22
Hyperparathyroidism, Secondary 1 | 7
Hyperpigmented genitalia 1 | 3
Hypoplasia of scrotum 1 | 24
Hypoplasia of vagina 1 | 14
Hypospadias, perineal 1 | 5
Increased serum parathyroid hormone 1 | 14
Increased serum testosterone level 1 | 4
Increased testosterone 1 | 4
Irritation - emotion 1 | 68
Labial hypoplasia 1 | 3
Laryngomalacia 1 | 14
Learning Disorders 1 | 29
Low maternal serum estriol 1 | 2
Low serum estradiol levels 1 | 22
Low serum testosterone levels 1 | 4
Maternal virilization in pregnancy 1 | 2
Metabolic Bone Disorder 1 | 11
Metaphyseal irregularity 1 | 23
Narrow pelvis 1 | 6
Narrowing of ear canal 1 | 13
Neoplastic Cell Transformation 1 | 89
Pear-shaped nose 1 | 2
Penile melanosis 1 | 3
Polymyositis 1 | 5
Premature adrenarche 1 | 3
Protuberant abdomen 1 | 16
Radiohumeral synostosis of elbow 1 | 8
Ramer Ladda syndrome 1 | 8
Rudimentary vagina 1 | 14
Sick sinus syndrome 1 | 15
Small labia majora 1 | 16
Sparse bone trabeculae 1 | 3
Stenosis of external auditory canal 1 | 13
Tarsal Coalition 1 | 12
Tibial bowing 1 | 19
Ulnar bowing 1 | 10
Upper airway obstruction 1 | 6
Urogenital sinus anomaly 1 | 15
Vesicovaginal Fistula 1 | 2
Widely patent fontanels and sutures 1 | 12
menstrual abnormality 1 | 4

Tissue

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

Target Family

Enzyme 3 | 4,145

PathwayCommons: humancyc Pathway

http://pathwaycommons.org/pc2/... 3 | 3
http://pathwaycommons.org/pc2/... 68 | 68
http://pathwaycommons.org/pc2/... 38 | 38
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This is where graphics are reside..
Name Gene Development Level Target Family Log Novelty  Pubmed Score  Antibody Count  Knowledge Availability 
NADPH--cytochrome P450 reductase POR Tbio Enzyme -2.43541 216.2 257
Vitamin D 25-hydroxylase CYP2R1 Tbio Enzyme -1.96830 95.4 152
25-hydroxyvitamin D-1 alpha hydroxylase, mitochondrial CYP27B1 Tchem Enzyme -2.70628 492.9 68