Property Summary

Ligand Count 20
NCBI Gene PubMed Count 144
PubMed Score 573.55
PubTator Score 296.11

Knowledge Summary

Patent (22,805)

TINX Plot

  Disease (8)

Disease Target Count
Hypercalcemia 59
Abnormal development of end part of bone 14
Abnormal skeletal development 60
Abnormal trabecular bone morphology 6
Abnormality of epiphysis morphology 39
Abnormality of position of teeth 8
Abnormality of the acetabulum 2
Abnormality of the fingertips 2
Abnormality of the metaphyses 48
Accelerated ankle bone maturation 2
Accelerated wrist bone maturation 2
Acquired cubitus valgus 18
Advanced bone age 35
Advanced tarsal ossification 2
Alkaline phosphatase serum increased 29
Anteverted nostril 191
Aplastic clavicles 6
Arthralgia 90
Autosomal recessive predisposition 1442
Bilateral fifth finger clinodactyly 110
Bone pain 42
Bowing of the long bones 31
Brachycephaly 88
Broad clavicle 5
Broad cranium shape 88
Broad feet 19
Cataract 297
Choanal Atresia 42
Choanal stenosis 11
Clubbed Fingers 4
Concave bridge of nose 195
Congenital deafness 185
Congenital hypoplasia of lung 48
Curvature of little finger 110
Deafness 198
Delayed epiphyseal ossification 10
Delayed maturation of end part of long bone 10
Depressed nasal bridge 195
Depressed nasal root/bridge 195
Diffuse, symmetrical osteosclerosis 5
Distal shortening of limbs 3
Dwarfism 37
Enchondromatosis 5
Epiphyseal dysplasia 14
Exophthalmos 112
Failure of eruption of permanent teeth 1
Failure of exfoliation of primary tooth 8
Fibular hypoplasia 9
Flexion contracture of hip 10
Generalized osteopenia 99
Hearing Loss, Partial 185
Hydrops Fetalis 21
Hypercalciuria 27
Hyperphosphaturia 21
Hypodontia 81
Hypophosphatemia 40
Hypoplastic feet 66
Hypoplastic mandible condyle 275
Hypoplastic toes 29
Hypotrophic malar bone 129
Increased bone density in skeletal bones 5
Increased calcium level in kidney 21
Joint stiffness 84
Laryngeal calcification 2
Lens Opacities 231
Lethal skeletal dysplasia 6
Limited elbow flexion 3
Limited hip movement 4
Long philtrum 137
Low set ears 181
Lytic lesion 32
Malar flattening 129
Mandibular hypoplasia 275
Mesomelia 8
Metaphyseal chondrodysplasia 7
Metaphyseal cupping 10
Metaphyseal irregularity 23
Micrognathism 275
Micromelia 58
Misalignment of teeth 8
Multiple, subcutaneous nodules 53
Narrow pelvis 6
Narrow thorax 53
Narrow, high iliac wings 2
Natal Teeth 9
Nephrocalcinosis 35
Orbital separation excessive 244
Osteochondrodysplasias 72
Osteopenia 99
Osteosclerosis 31
Pathological fracture 20
Platyspondyly 56
Polyhydramnios 108
Precociously ossified carpal bones 2
Premature Birth 77
Premature birth of newborn 67
Prominent eyes 96
Prominent globes 96
Prominent supraorbital arches in adult 1
Protruding eyes 96
Protrusion of tongue 11
Protuberant abdomen 16
Rhizomelia 25
Sacral agenesis 3
Short hands 50
Short limb dwarfism recognizable at birth 9
Short metacarpal 43
Short nose 132
Short phalanx of finger 32
Short ribs 30
Short stature 531
Short thorax 21
Short tubular bones 22
Small nose 132
Spade-like hand 16
Splayed metaphyses 19
Square iliac bones 4
Stillbirth 17
Subcutaneous nodule 53
Synostosis of joints 2
Telecanthus 62
Thick skull base 2
Thin bony cortex 9
Unerupted adult dentition 1
Urine phosphorous concentration above normal 21
Visceral angiomatosis 13
Waddling gait 34
Wide skull shape 88
hearing impairment 199
Disease Target Count Z-score Confidence
Carcinoma 11493 0.0 0.6
Disease Target Count Z-score Confidence
Type 2 diabetes mellitus 272 0.0 1.0

Expression

  Differential Expression (8)

Disease log2 FC p
adrenocortical adenoma -1.703 2.7e-05
adrenocortical carcinoma -2.574 1.1e-14
adult high grade glioma -1.200 6.0e-04
glioblastoma -1.100 4.9e-03
group 4 medulloblastoma -1.100 8.7e-04
malignant mesothelioma 1.100 4.8e-06
medulloblastoma, large-cell -1.400 4.4e-05
psoriasis -1.100 5.1e-04

Gene RIF (119)

AA Sequence

MGTARIAPGLALLLCCPVLSSAYALVDADDVMTKEEQIFLLHRAQAQCEKRLKEVLQRPASIMESDKGWT      1 - 70
SASTSGKPRKDKASGKLYPESEEDKEAPTGSRYRGRPCLPEWDHILCWPLGAPGEVVAVPCPDYIYDFNH     71 - 140
KGHAYRRCDRNGSWELVPGHNRTWANYSECVKFLTNETREREVFDRLGMIYTVGYSVSLASLTVAVLILA    141 - 210
YFRRLHCTRNYIHMHLFLSFMLRAVSIFVKDAVLYSGATLDEAERLTEEELRAIAQAPPPPATAAAGYAG    211 - 280
CRVAVTFFLYFLATNYYWILVEGLYLHSLIFMAFFSEKKYLWGFTVFGWGLPAVFVAVWVSVRATLANTG    281 - 350
CWDLSSGNKKWIIQVPILASIVLNFILFINIVRVLATKLRETNAGRCDTRQQYRKLLKSTLVLMPLFGVH    351 - 420
YIVFMATPYTEVSGTLWQVQMHYEMLFNSFQGFFVAIIYCFCNGEVQAEIKKSWSRWTLALDFKRKARSG    421 - 490
SSSYSYGPMVSHTSVTNVGPRVGLGLPLSPRLLPTATTNGHPQLPGHAKPGTPALETLETTPPAMAAPKD    491 - 560
DGFLNGSCSGLDEEASGPERPPALLQEEWETVM                                         561 - 593
//

Text Mined References (149)

PMID Year Title