Development Level

Tbio 1 | 11,445

IMPC Phenotype

abnormal bone structure 1 | 187
decreased circulating serum al... 1 | 82
decreased total body fat amoun... 1 | 207
hypoactivity 1 | 132
increased blood urea nitrogen ... 1 | 48
increased bone mineral content 1 | 108
increased circulating alkaline... 1 | 122
increased circulating potassiu... 1 | 29
short tibia 1 | 97
thrombocytosis 1 | 27

Disease

Astrocytoma, Pilocytic 1 | 3,081
Asymmetric Septal Hypertrophy 1 | 7
Autosomal recessive predisposition 1 | 1,442
Carcinoma 1 | 11,493
Coarse facial features 1 | 108
Coarse hair 1 | 31
Congenital deafness 1 | 185
Deafness 1 | 198
Dense calvaria 1 | 2
Diarrhea 1 | 253
Dull intelligence 1 | 645
Epilepsy 1 | 792
Hearing Loss, Partial 1 | 185
Heparan sulfate excretion in urine 1 | 5
Hepatomegaly 1 | 285
Hirsutism 1 | 47
Hyperactive behavior 1 | 91
Intellectual disability 1 | 1,016
Joint stiffness 1 | 84
Kluver-Bucy syndrome 1 | 6
Low intelligence 1 | 645
Mental Retardation 1 | 645
Mental deficiency 1 | 645
Metachromatic leukodystrophy 1 | 14
Mucopolysaccharidosis 1 | 26
Mucopolysaccharidosis III 1 | 7
Mucopolysaccharidosis Type IIIA 1 | 1
Mucosulfatidosis 1 | 5
Ovoid thoracolumbar vertebrae 1 | 3
Pfaundler-Hurler Syndrome 1 | 12
Poor school performance 1 | 645
Recurrent upper respiratory tract infection 1 | 21
Rough hair texture 1 | 31
Sanfilippo syndrome type A 1 | 2
Seizures 1 | 596
Sleep disturbances 1 | 37
Splenomegaly 1 | 190
Synophrys 1 | 40
Thick rib 1 | 5
Thickened facial skin with coarse facial features 1 | 108
abnormal growth 1 | 26
atypical teratoid / rhabdoid tumor 1 | 5,112
group 4 medulloblastoma 1 | 1,855
hearing impairment 1 | 199
malignant mesothelioma 1 | 3,232
ovarian cancer 1 | 8,520
subependymal giant cell astrocytoma 1 | 2,287

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: Mucopolysaccharidos... 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 
N-sulphoglucosamine sulphohydrolase SGSH Tbio Enzyme -2.17271 151.8 156