Development Level

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

IMPC Phenotype

abnormal kidney morphology 1 | 65
abnormal lens morphology 1 | 81
cataract 1 | 92
increased circulating alkaline... 1 | 122

Disease

Autosomal recessive predisposition 3 | 1,442
Carcinoma 3 | 11,493
glioblastoma 3 | 5,792
ovarian cancer 3 | 8,520
pediatric high grade glioma 3 | 1,064
astrocytoma 2 | 1,146
atypical teratoid / rhabdoid tumor 2 | 5,112
lung cancer 2 | 4,740
malignant mesothelioma 2 | 3,232
medulloblastoma, large-cell 2 | 6,241
osteosarcoma 2 | 7,950
pancreatic ductal adenocarcinoma liver metastasis 2 | 1,962
psoriasis 2 | 6,694
Abnormality of the face 1 | 10
Abnormality of the spleen 1 | 13
Abnormality of the urinary system 1 | 21
Acute thyroiditis 1 | 1
Anterior beaking of lumbar vertebrae 1 | 4
Aortic valve stenosis 1 | 28
Beaked vertebral bodies 1 | 9
Beta-galactosidase deficiency in fibroblasts and white blood cells 1 | 2
Bone Diseases, Developmental 1 | 27
Bullet vertebral body 1 | 17
Cervical myelopathy 1 | 6
Cervical subluxation 1 | 2
Cherry red spot of the macula 1 | 7
Class III malocclusion 1 | 78
Cloudy cornea 1 | 33
Congestive heart failure 1 | 113
Constricted iliac wings 1 | 2
Corneal stromal opacities 1 | 33
Coxa valga 1 | 22
Coxa valga deformity 1 | 22
Deficiency of galactokinase 1 | 1
Dental caries 1 | 164
Developmental arrest 1 | 4
Diffuse cerebral atrophy 1 | 8
Disorder of face 1 | 10
Epilepsies, Myoclonic 1 | 32
Epiphyseal deformities of tubular bones 1 | 2
Fabry disease 1 | 11
Flared iliac wings 1 | 13
Flaring of rib cage 1 | 2
Galactokinase Deficiency 1 | 2
Galactosemia 1 | 19
Galactosemias 1 | 3
Galactosuria 1 | 4
Gangliosidosis 1 | 20
Gangliosidosis GM1 1 | 4
Generalized myoclonic seizures 1 | 30
Glycoproteinosis 1 | 12
Grayish enamel 1 | 2
Heart failure 1 | 162
Heart valve disease 1 | 39
Hypergalactosemia 1 | 3
Hyperkyphosis 1 | 111
Hypertrichosis 1 | 46
Hypertrophic Cardiomyopathy 1 | 117
Hypertrophy of lower jaw 1 | 78
Hypoplastic acetabulae 1 | 3
Hypoplastic vertebral bodies 1 | 7
Impairment of galactose metabolism 1 | 3
Increased size of mandible 1 | 78
Joint laxity 1 | 54
Joint stiffness 1 | 84
Keratan sulfate excretion in urine 1 | 3
Knee joint valgus deformity 1 | 56
Krabbe disease 1 | 12
Kyphosis deformity of spine 1 | 114
Laryngotracheitis 1 | 10
Lordosis 1 | 54
Mandibular hyperplasia 1 | 78
Mastitis 1 | 48
Metachromatic leukodystrophy 1 | 14
Metaphyseal widening 1 | 22
Mild Mental Retardation 1 | 70
Mucopolysaccharidosis IV 1 | 5
Myoclonic Epilepsies, Progressive 1 | 44
Niemann-Pick disease 1 | 14
ODONTOID HYPOPLASIA 1 | 16
Ovoid vertebral bodies 1 | 17
Platyspondyly 1 | 56
Pointed proximal second through fifth metacarpals 1 | 2
Prominent sternum 1 | 4
Recurrent upper respiratory tract infection 1 | 21
Restrictive lung disease 1 | 11
Restrictive ventilatory defect 1 | 11
Rotting teeth 1 | 73
Sea-Blue Histiocyte Syndrome 1 | 7
Short-trunked dwarfism 1 | 13
Slurred speech 1 | 7
Spastic Quadriplegia 1 | 42
Thick rib 1 | 5
Ulnar deviation of the wrist 1 | 8
VALVULAR ABNORMALITY 1 | 12
Vacuolated lymphocytes 1 | 8
Wedging of vertebra 1 | 9
Widely spaced teeth 1 | 31
inclusion-cell disease 1 | 16
mandibular excess (physical finding) 1 | 78

Tissue

Digestive Tract 6 | 17,369
Endocrine System 6 | 18,159
Female tissues 6 | 17,400
Male tissues 6 | 17,142
Blood and immune system 5 | 16,909
Cardiovascular System 5 | 15,192
Liver and Pancreas 5 | 16,750
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 4 | 4,145
Kinase 2 | 634

PathwayCommons: inoh Pathway

http://pathwaycommons.org/pc2/... 6 | 6
http://pathwaycommons.org/pc2/... 236 | 236
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http://pathwaycommons.org/pc2/... 15 | 15

This is where graphics are reside..
Name Gene Development Level Target Family Log Novelty  Pubmed Score  Antibody Count  Knowledge Availability 
Beta-1,4-galactosyltransferase 1 B4GALT1 Tbio Enzyme -2.34454 211.1 130
Galactokinase GALK1 Tbio Kinase -2.57441 372.4 197
Beta-1,4-galactosyltransferase 2 B4GALT2 Tbio Enzyme -0.88995 7.16 122
N-acetylgalactosamine kinase GALK2 Tbio Kinase -1.25867 17.2 203
Beta-galactosidase GLB1 Tchem Enzyme -2.66211 439.4 477
Alpha-lactalbumin LALBA Tbio Enzyme -3.23301 1695.2 254