Property Summary

NCBI Gene PubMed Count 45
PubMed Score 284.11
PubTator Score 134.79

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (7)

Disease Target Count
Multiple epiphyseal dysplasia 18
Cleft Palate 271
Abdomen distended 43
Abnormal development of end part of bone 14
Abnormal enchondral ossification 3
Abnormality of epiphysis morphology 39
Abnormality of metabolism/homeostasis 134
Abnormality of the clavicle 14
Abnormality of the metacarpal bones 17
Abnormality of the metaphyses 48
Abnormality of the patella 2
Abnormality of the ribs 32
Abnormally-shaped vertebrae 31
Absent or minimally ossified vertebral bodies 3
Achondrogenesis, type IB (disorder) 1
Acquired scoliosis 281
Anteverted nostril 191
Aplasia/Hypoplasia of the lungs 13
Arthralgia 90
Autosomal recessive predisposition 1442
Big calvaria 147
Bilateral fifth finger clinodactyly 110
Blue sclera 32
Bowing of the long bones 31
Brachydactyly 156
Breech Presentation 10
Cervical kyphosis 2
Chubby cheeks 50
Compression of spinal cord 10
Concave bridge of nose 195
Congenital clubfoot 109
Congenital deafness 185
Congenital hypoplasia of lung 48
Coronal cleft vertebrae 8
Costal cartilage calcification 2
Curvature of little finger 110
Curvature of spine 282
Cystic lesions of the pinnae 1
Deafness 198
Decreased projection of midface 105
Degenerative polyarthritis 115
Depressed nasal bridge 195
Depressed nasal root/bridge 195
Dumbbell-shaped femur 1
Dwarfism 37
Edema 81
Epiphyseal dysplasia 14
Excess nuchal skin 30
Fetal Growth Retardation 189
Flat acetabular roof 10
Flat epiphyses 7
Flat face 52
Flat proximal femoral epiphyses 8
Fleshy earlobes 8
Flexion contracture of hip 10
Flexion contracture of proximal interphalangeal joint 75
Frontal bossing 157
Full cheeks 50
Glabellar hemangioma 1
Hearing Loss, Partial 185
Hernia, Femoral 7
Hernia, Inguinal 89
Hip Dislocation, Congenital 48
Hitchhiker thumb 3
Hoarseness 31
Horizontal sacrum 3
Hydrops Fetalis 21
Hyperkyphosis 111
Hyperplasia of cheeks 50
Hypertrophic auricular cartilage 1
Hypertrophy of cheeks 50
Hypoplastic cervical vertebrae 3
Hypoplastic feet 66
Hypoplastic finger 17
Hypoplastic ilia 12
Hypoplastic mandible condyle 275
Hypotrophic malar bone 129
Hypotrophic midface 105
Increased head circumference 147
Increased size of cranium 147
Increased size of skull 147
Infant, Small for Gestational Age 176
Intrauterine retardation 176
Irregular epiphyses 10
Joint stiffness 84
Kyphoscoliosis deformity of spine 60
Kyphosis deformity of spine 114
Laryngotracheal stenosis 2
Lethal skeletal dysplasia 6
Limited elbow flexion 3
Long philtrum 137
Low-set, posteriorly rotated ears 110
Lumbar lordosis 35
Malar flattening 129
Mandibular hypoplasia 275
Micrognathism 275
Micromelia 58
Midface retrusion 105
Muscle hypotonia 571
Narrow thorax 53
Orbital separation excessive 244
Osteosclerosis 31
Overfolded helix 24
Platyspondyly 56
Polyhydramnios 108
Proximally placed thumbs 17
Puffy cheeks 50
Recurrent respiratory infections 141
Respiratory Insufficiency 132
Respiratory function loss 121
Sandal gap 24
Short finger 17
Short limb dwarfism recognizable at birth 9
Short limb dwarfism, disproportionate 22
Short metacarpal 43
Short middle phalanges 12
Short neck 140
Short nose 132
Short ribs 30
Short stature 531
Short stature, disproportionate 9
Short stature, severe disproportionate 9
Short thorax 21
Short tubular bones 22
Shortened sacroiliac notches 4
Small femoral heads 2
Small hand 36
Small midface 105
Small nose 132
Small wings of the pelvic girdle 12
Stillbirth 17
Symphalangism affecting the phalanges of the hand 5
Thoracic hypoplasia 14
Ulnar deviation of the fingers 21
Umbilical hernia 93
Uranostaphyloschisis 167
hearing impairment 199
Disease Target Count Z-score Confidence
Carcinoma 11493 0.0 0.5
Disease Target Count Z-score Confidence
Achondrogenesis 6 6.88 3.4

Expression

  Differential Expression (28)

Disease log2 FC p
active Crohn's disease -2.640 1.6e-02
active ulcerative colitis -4.658 1.2e-02
acute myeloid leukemia -1.600 6.7e-03
acute quadriplegic myopathy 1.293 1.9e-06
adult high grade glioma 2.000 5.0e-03
Astrocytoma, Pilocytic 3.000 2.1e-06
atypical teratoid / rhabdoid tumor 1.600 1.5e-03
Breast cancer -1.200 1.3e-04
colon cancer -3.200 2.1e-03
ependymoma 1.400 1.4e-04
gastric cancer 1.200 4.9e-04
glioblastoma 1.800 7.9e-05
interstitial cystitis -1.300 7.9e-04
invasive ductal carcinoma 1.006 3.5e-02
juvenile dermatomyositis 1.141 5.0e-10
lung adenocarcinoma -1.100 1.3e-11
lung cancer -2.400 1.2e-04
malignant mesothelioma 1.500 1.4e-06
medulloblastoma 1.100 3.6e-03
medulloblastoma, large-cell 1.200 3.4e-03
osteosarcoma 3.807 2.4e-07
ovarian cancer 1.600 1.4e-03
pancreatic cancer 1.100 2.2e-03
pancreatic carcinoma 1.100 2.2e-03
Pick disease 2.600 2.1e-04
primitive neuroectodermal tumor 1.900 4.0e-03
psoriasis -1.100 1.4e-12
tuberculosis -1.600 8.0e-04

Gene RIF (26)

AA Sequence

MSSESKEQHNVSPRDSAEGNDSYPSGIHLELQRESSTDFKQFETNDQCRPYHRILIERQEKSDTNFKEFV      1 - 70
IKKLQKNCQCSPAKAKNMILGFLPVLQWLPKYDLKKNILGDVMSGLIVGILLVPQSIAYSLLAGQEPVYG     71 - 140
LYTSFFASIIYFLLGTSRHISVGIFGVLCLMIGETVDRELQKAGYDNAHSAPSLGMVSNGSTLLNHTSDR    141 - 210
ICDKSCYAIMVGSTVTFIAGVYQVAMGFFQVGFVSVYLSDALLSGFVTGASFTILTSQAKYLLGLNLPRT    211 - 280
NGVGSLITTWIHVFRNIHKTNLCDLITSLLCLLVLLPTKELNEHFKSKLKAPIPIELVVVVAATLASHFG    281 - 350
KLHENYNSSIAGHIPTGFMPPKVPEWNLIPSVAVDAIAISIIGFAITVSLSEMFAKKHGYTVKANQEMYA    351 - 420
IGFCNIIPSFFHCFTTSAALAKTLVKESTGCHTQLSGVVTALVLLLVLLVIAPLFYSLQKSVLGVITIVN    421 - 490
LRGALRKFRDLPKMWSISRMDTVIWFVTMLSSALLSTEIGLLVGVCFSIFCVILRTQKPKSSLLGLVEES    491 - 560
EVFESVSAYKNLQIKPGIKIFRFVAPLYYINKECFKSALYKQTVNPILIKVAWKKAAKRKIKEKVVTLGG    561 - 630
IQDEMSVQLSHDPLELHTIVIDCSAIQFLDTAGIHTLKEVRRDYEAIGIQVLLAQCNPTVRDSLTNGEYC    631 - 700
KKEEENLLFYSVYEAMAFAEVSKNQKGVCVPNGLSLSSD                                   701 - 739
//

Text Mined References (45)

PMID Year Title