Development Level

Tbio 5 | 11,445
Tchem 1 | 1,598

IMPC Phenotype

abnormal bone structure 1 | 187
decreased total body fat amoun... 1 | 207
increased bone mineral content 1 | 108

Disease

Carcinoma 6 | 11,493
Mucopolysaccharidosis 5 | 26
Autosomal recessive predisposition 4 | 1,442
tuberculosis 3 | 2,010
Bullet vertebral body 2 | 17
Cancer 2 | 2,499
Cervical myelopathy 2 | 6
Cloudy cornea 2 | 33
Coarse facial features 2 | 108
Concave bridge of nose 2 | 195
Congenital deafness 2 | 185
Corneal stromal opacities 2 | 33
Cystitis cystica 2 | 2
Deafness 2 | 198
Depressed nasal bridge 2 | 195
Depressed nasal root/bridge 2 | 195
Gangliosidosis 2 | 20
Hearing Loss, Partial 2 | 185
Heart valve disease 2 | 39
Hepatomegaly 2 | 285
Hernia, Inguinal 2 | 89
Keratan sulfate excretion in urine 2 | 3
Knee joint valgus deformity 2 | 56
Metachromatic leukodystrophy 2 | 14
Metaphyseal widening 2 | 22
ODONTOID HYPOPLASIA 2 | 16
Ovoid vertebral bodies 2 | 17
Prominent sternum 2 | 4
Recurrent upper respiratory tract infection 2 | 21
Short-trunked dwarfism 2 | 13
Thickened facial skin with coarse facial features 2 | 108
VALVULAR ABNORMALITY 2 | 12
hearing impairment 2 | 199
ovarian cancer 2 | 8,520
psoriasis 2 | 6,694
Abnormal development of end part of bone 1 | 14
Abnormality of the acetabulum 1 | 2
Actual Aspiration 1 | 8
Apathy 1 | 16
Brain disease 1 | 96
Broad ribs 1 | 12
Cherry red spot of the macula 1 | 7
Childhood disintegrative disease 1 | 4
Class III malocclusion 1 | 78
Claw hand 1 | 26
Cleft uvula 1 | 27
Congenital stromal corneal dystrophy 1 | 5
Coxa valga 1 | 22
Coxa valga deformity 1 | 22
Dental caries 1 | 164
Dermatan sulfate excretion in urine 1 | 3
Epiphyseal dysplasia 1 | 14
Exaggerated acoustic startle response 1 | 8
Exaggerated startle response 1 | 8
Fabry disease 1 | 11
Flared iliac wings 1 | 13
Fucosidosis 1 | 10
Gm2-ganglioside accumulation 1 | 2
Goldenhar syndrome 1 | 20
Heparan sulfate excretion in urine 1 | 5
Hirsutism 1 | 47
Hyaluronidase Deficiency 1 | 1
Hyperexplexia 1 | 8
Hyperkyphosis 1 | 111
Hypertrophy of lower jaw 1 | 78
Hypoplastic acetabulae 1 | 3
Hypoplastic iliac wing 1 | 19
Increased size of mandible 1 | 78
Increased startle response 1 | 8
Iron metabolism disease 1 | 20
Joint laxity 1 | 54
Joint stiffness 1 | 84
Kniest dysplasia 1 | 3
Kyphosis deformity of spine 1 | 114
Larsen syndrome 1 | 10
Lordosis 1 | 54
Metaphyseal irregularity 1 | 23
Mucopolysaccharidosis VI 1 | 6
Neuronal ceroid lipofuscinosis 1 | 28
Niemann-Pick disease 1 | 14
Oxyphilic adenoma 1 | 22
Pfaundler-Hurler Syndrome 1 | 12
Platyspondyly 1 | 56
Poor head control 1 | 14
Pulmonary aspiration 1 | 8
Recurrent otitis media 1 | 42
Restrictive lung disease 1 | 11
Restrictive ventilatory defect 1 | 11
Rotting teeth 1 | 73
Skin Abnormalities 1 | 37
Spinal cord disease 1 | 25
Spondyloepiphyseal dysplasia congenita 1 | 4
Spondyloepiphyseal dysplasia with congenital joint dislocations 1 | 13
Submucous cleft of hard palate 1 | 11
Submucous clefting 1 | 9
Tay-Sachs disease 1 | 6
Widely spaced teeth 1 | 31
mandibular excess (physical finding) 1 | 78
mucopolysaccharidosis IX 1 | 2
pseudo-Hurler polydystrophy 1 | 6

Tissue

Digestive Tract 6 | 17,369
Endocrine System 6 | 18,159
Female tissues 6 | 17,400
Blood and immune system 5 | 16,909
Cardiovascular System 5 | 15,192
Liver and Pancreas 5 | 16,750
Male tissues 5 | 17,142
Nervous System 5 | 16,725
Respiratory system 5 | 16,393
Skin and soft tissues 5 | 17,230
Urinary Tract 5 | 16,678

Target Family

Enzyme 6 | 4,145

PathwayCommons: humancyc Pathway

http://pathwaycommons.org/pc2/... 6 | 6
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 
Arylsulfatase B ARSB Tbio Enzyme -2.51626 314.5 216
Hyaluronidase PH-20 SPAM1 Tbio Enzyme -2.18435 158.5 144
Hyaluronidase-1 HYAL1 Tbio Enzyme -1.88328 77.3 220
N-acetylgalactosamine-6-sulfatase GALNS Tbio Enzyme -2.43232 272.7 229
Beta-hexosaminidase subunit alpha HEXA Tchem Enzyme -2.83300 675.5 327
Hyaluronidase-4 HYAL4 Tbio Enzyme -0.79356 5.09 70