Development Level

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

'Bulging' epiphyses 1 | 3
'Bulging' of the costochondral junction 1 | 2
Abdominal wall muscle weakness 1 | 6
Addison's disease 1 | 31
Alkaline phosphatase serum increased 1 | 29
Alopecia 1 | 115
Autosomal recessive predisposition 1 | 1,442
Bone pain 1 | 42
Cancer 1 | 2,499
Carcinoma 1 | 11,493
Defective enamel matrix 1 | 35
Deformed rib cage 1 | 2
Delayed epiphyseal ossification 1 | 10
Delayed maturation of end part of long bone 1 | 10
Dental Enamel Hypoplasia 1 | 43
Difficulty standing 1 | 3
Difficulty walking 1 | 28
Dysplasia of tooth enamel 1 | 35
Enlargement of the ankles 1 | 3
Enlargement of the costochondral junction 1 | 4
Enlargement of the wrists 1 | 5
Failure to gain weight 1 | 365
Femoral bowing 1 | 20
Fibular bowing 1 | 5
Flat back of the head 1 | 26
Flat occiput 1 | 26
Frequent fractures 1 | 53
Frontal bossing 1 | 157
Generalized aminoaciduria 1 | 9
Genu varum 1 | 29
Growth delay 1 | 114
Growth failure 1 | 114
Growth retardation 1 | 115
Hypercalcemia 1 | 59
Hyperparathyroidism 1 | 48
Hyperparathyroidism, Secondary 1 | 7
Hyperphosphatemia 1 | 32
Hypervitaminosis D 1 | 8
Hypocalcaemic seizure 1 | 4
Hypocalcemic vitamin D-dependent rickets 1 | 2
Hypophosphatemia 1 | 40
Increased fracture rate 1 | 53
Increased serum parathyroid hormone 1 | 14
Irritation - emotion 1 | 68
Late tooth eruption 1 | 61
Metaphyseal irregularity 1 | 23
Motor delay 1 | 147
Multiple Sclerosis 1 | 540
Muscle hypotonia 1 | 571
No development of motor milestones 1 | 147
Nonorganic psychosis 1 | 84
Osteomalacia 1 | 35
Pediatric failure to thrive 1 | 365
Polymyositis 1 | 5
Poor growth 1 | 114
Protuberant abdomen 1 | 16
Psychotic Disorders 1 | 151
Rickets 1 | 49
Sick sinus syndrome 1 | 15
Sparse bone trabeculae 1 | 3
Subperiosteal erosions due to secondary hyperparathyroidism 1 | 2
Thin bony cortex 1 | 9
Thin dental enamel 1 | 35
Tibial bowing 1 | 19
Varying degree of multiple fractures 1 | 53
Very poor growth 1 | 114
Vitamin D Hydroxylation-Deficient Rickets, Type 1A 1 | 1
Vitamin D-dependent rickets, type 1 1 | 2
Widely patent fontanels and sutures 1 | 12
adult high grade glioma 1 | 3,801
glioblastoma 1 | 5,792
invasive ductal carcinoma 1 | 2,951
malignant mesothelioma 1 | 3,232
medulloblastoma, large-cell 1 | 6,241
nephrosclerosis 1 | 333
non-small cell lung cancer 1 | 2,890
osteosarcoma 1 | 7,950
psoriasis 1 | 6,694

Tissue

Blood and immune system 1 | 16,909
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: Vitamin D-dependent... 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 
25-hydroxyvitamin D-1 alpha hydroxylase, mitochondrial CYP27B1 Tchem Enzyme -2.70628 492.9 68