Property Summary

NCBI Gene PubMed Count 303
PubMed Score 724.36
PubTator Score 619.52

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (7)

Disease Target Count
Hypochondrogenesis 3
Brachydactyly 156
Arthropathy 43
Tracheomalacia 22
'Pugilistic facies' 1
ANONYCHIA 20
Abdomen distended 43
Abnormal cartilage collagen 1
Abnormal development of end part of bone 14
Abnormal enchondral ossification 3
Abnormal hyaline collagen 1
Abnormal skeletal development 60
Abnormal type II collagen 1
Abnormality of epiphysis morphology 39
Abnormality of pelvic girdle bone morphology 37
Abnormality of the abdominal wall 10
Abnormality of the fibula 1
Abnormality of the metaphyses 48
Abnormality of the vitreous humor 2
Abnormality of the wrist 2
Abnormality of ulnar metaphysis 3
Abnormality of vertebral epiphysis morphology 1
Absent styloid process of ulna 1
Absent vertebral body mineralization 1
Acetabular spurs 3
Acquired flat foot 72
Acquired scoliosis 281
Anisospondyly 2
Anterior rib cupping 6
Anteverted nostril 191
Aplasia/Hypoplasia of the capital femoral epiphysis 2
Aplasia/Hypoplasia of the lungs 13
Arachnodactyly 49
Arthralgia 90
Aseptic Necrosis of Bone 8
Aseptic necrosis 8
Asteroid hyalosis 1
Autosomal recessive predisposition 1442
Avascular Necrosis of Femur Head 1
BRACHYDACTYLY, TYPE E1 5
Barrel chest 12
Beaked vertebral bodies 9
Big calvaria 147
Blind Vision 111
Blindness, Legal 110
Bone infarction 8
Bone necrosis 9
Broad forehead 59
Broad long bones 5
Broad thumbs 28
Bulbous nasal tip 48
Bulbous nose 48
Bulging forehead 66
Bullet vertebral body 17
C1-C2 subluxation 3
Carpal bone anomalies 5
Cartilage destruction 2
Cervical myelopathy 6
Coarse facial features 108
Concave bridge of nose 195
Conductive hearing loss 123
Cone-shaped epiphyses 24
Cone-shaped epiphyses of phalanges 15
Congenital clubfoot 109
Congenital deafness 185
Congenital hypoplasia of lung 48
Congenital pectus carinatum 52
Contracture 96
Contracture of joint 93
Coronal cleft vertebrae 8
Coxa valga 22
Coxa valga deformity 22
Curvature of spine 282
Deafness 198
Decreased cranial base ossification 1
Decreased joint mobility 53
Decreased projection of maxilla 66
Decreased projection of midface 105
Defect of vertebral segmentation 17
Deficiency of upper jaw bones 66
Degenerative polyarthritis 115
Delayed bone age 136
Delayed calcaneal ossification 1
Delayed epiphyseal ossification 10
Delayed heel bone maturation 1
Delayed maturation fo pubic bone 3
Delayed maturation of end part of long bone 10
Delayed mineralization of pubic bone 3
Delayed pubic bone ossification 3
Dental abnormalities 60
Depressed nasal bridge 195
Depressed nasal root/bridge 195
Disc-like vertebral bodies 1
Disproportionately short middle phalanges 6
Dumbbell-shaped long bones 4
Dwarfism 37
Dwarfism, short-trunk, identifiable at birth 1
Enchondromatosis 5
Enlarged joints 3
Enlarged thorax 18
Epidermolysis bullosa, pretibial 3
Epiphyseal dysplasia 14
Excess nuchal skin 30
Exophthalmos 112
Exostoses 11
Flat acetabular roof 10
Flat epiphyses 7
Flat face 52
Flat proximal femoral epiphyses 8
Flatfoot 73
Flattened, squared-off epiphyses of tubular bones 1
Flexion contracture 93
Flexion contracture of hip 10
Flexion contractures of joints 93
Foot Deformities 30
Frequent fractures 53
Frontal bossing 157
Gait abnormality 135
Generalized joint laxity 6
Genu varum 29
Glaucoma 239
Hearing Loss, Mixed Conductive-Sensorineural 12
Hearing Loss, Partial 185
Heberden's node 1
Hernia, Femoral 7
Hernia, Inguinal 89
Hip joint varus deformity - observation 24
Horizontal ribs 5
Hydrops Fetalis 21
Hyperkyphosis 111
Hypoplasia of the maxilla 66
Hypoplasia of thumb 26
Hypoplastic feet 66
Hypoplastic ilia 12
Hypoplastic iliac wing 19
Hypoplastic ischia 11
Hypoplastic mandible condyle 275
Hypoplastic pelvis 9
Hypoplastic pubic bone 7
Hypoplastic scapulae 14
Hypoplastic toes 29
Hypotrophic malar bone 129
Hypotrophic maxilla 66
Hypotrophic midface 105
Increased fracture rate 53
Increased head circumference 147
Increased size of cranium 147
Increased size of skull 147
Infectious disease of lung 29
Irregular femoral epiphyses 2
Irregular vertebral endplates 16
Joint hyperflexibility 78
Joint stiffness 84
Knee joint valgus deformity 56
Kyphoscoliosis deformity of spine 60
Kyphosis deformity of spine 114
Large tarsal bones 2
Leg Length Inequality 6
Lens Opacities 231
Lethal skeletal dysplasia 6
Limitation of knee mobility 1
Limited elbow extension 19
Limited elbow movement 6
Limited hip movement 4
Long philtrum 137
Lordosis 54
Low set ears 181
Lumbar kyphoscoliosis 1
Lumbar lordosis 35
Lymphangioma, Cystic 21
Malar flattening 129
Mandibular hypoplasia 275
Marfanoid body habitus 11
Maxillary retrognathia 66
Metaphyseal cupping 10
Metaphyseal dappling 1
Metaphyseal enchondromatosis 1
Metaphyseal irregularity 23
Micrognathism 275
Micromelia 58
Microstomia 78
Midface retrusion 105
Mitral Valve Prolapse Syndrome 39
Motor delay 147
Multiple pulmonary infections 29
Muscle hypotonia 571
Narrow femoral necks 2
Narrow iliac wings 7
Narrow sacrosciatic notch 6
Narrow thorax 53
Narrowing of intervertebral disc space 3
Neurogenic Muscular Atrophy 139
Neurogenic muscle atrophy, especially in the lower limbs 139
No development of motor milestones 147
ODONTOID HYPOPLASIA 16
Orbital separation excessive 244
Osteoarthritis of hip 6
Osteoarthritis, Knee 3
Ovoid vertebral bodies 17
Pectus excavatum 100
Pierre Robin Syndrome 11
Pierre Robin syndrome with fetal chondrodysplasia 2
Platyspondyly 56
Polyhydramnios 108
Potato nose 48
Premature osteoarthritis 6
Prominent eyes 96
Prominent forehead 66
Prominent globes 96
Prominent interphalangeal joints 3
Protruding eyes 96
Protuberant abdomen 16
Proximal club shaped femurs 2
Pyle metaphyseal dysplasia 8
Recurrent otitis media 42
Recurrent pneumonia 29
Recurrent pulmonary infections 29
Relative short stature 13
Respiratory distress 43
Restrictive lung disease 11
Restrictive ventilatory defect 11
Retinal Diseases 55
Retinal Dysplasia 11
Retinal thinning 7
Retrusion of upper jaw bones 66
Rhegmatogenous retinal detachment 1
Rhizomelia 25
Round face 45
Round, full face 45
Schmorl's nodes 2
Sensorineural Hearing Loss (disorder) 284
Severe limb shortening 1
Severe platyspondyly 5
Short distal phalanges 50
Short distal phalanx (5th finger) 2
Short distal phalanx of the 2nd finger 1
Short distal phalanx of the 3rd finger 1
Short distal phalanx of the 4th finger 1
Short extremities 7
Short femoral neck 15
Short hands 50
Short limb dwarfism recognizable at birth 9
Short limb dwarfism, disproportionate 22
Short metacarpal 43
Short metatarsal 21
Short neck 140
Short nose 132
Short phalanx of finger 32
Short ribs 30
Short stature 531
Short stature, disproportionate 9
Short stature, mild 13
Short stature, severe disproportionate 9
Short thorax 21
Short tubular bones 22
Short tubular bones of the hand 1
Short ulnae 24
Short-trunked dwarfism 13
Shortening of all proximal phalanges of the fingers 2
Skeletal muscle atrophy 139
Skin Erosion 12
Small capital femoral epiphyses 10
Small midface 105
Small nose 132
Small wings of the pelvic girdle 12
Spade-like hand 16
Splayed epiphyses 1
Splayed metaphyses 19
Spondyloepimetaphyseal disorder 9
Spondyloepiphyseal Dysplasia 7
Spondylometaphyseal dysplasia, 'corner fracture' type 1
Spondyloperipheral dysplasia short ulna 1
Sternal anomalies 19
Stillbirth 17
Thickened facial skin with coarse facial features 108
Thin rib 21
Thoracic kyphosis 6
Tooth Abnormalities 69
ULNAR HYPOPLASIA 24
Umbilical hernia 93
Uranostaphyloschisis 167
Varying degree of multiple fractures 53
Vitreoretinal degeneration 9
Waddling gait 34
Wedging of vertebra 9
Weight decreased 103
abnormal growth 26
hearing impairment 199
muscle degeneration 139
Disease Target Count Z-score Confidence
Carcinoma 11493 0.0 1.1
Kidney cancer 2613 0.0 0.6
Skin cancer 469 0.0 0.7

Expression

  Differential Expression (11)

Disease log2 FC p
adult high grade glioma 1.700 8.9e-03
Astrocytoma, Pilocytic 1.600 1.4e-04
atypical teratoid / rhabdoid tumor 2.900 2.2e-03
ependymoma 1.300 1.4e-02
gastric carcinoma -4.200 8.9e-03
glioblastoma 1.300 1.9e-02
group 3 medulloblastoma 2.900 1.2e-04
lung cancer 1.300 6.9e-03
medulloblastoma, large-cell 2.200 1.3e-03
pituitary cancer 2.400 3.9e-06
primitive neuroectodermal tumor 2.700 3.9e-02

 CSPA Cell Line (3)

Protein-protein Interaction (1)

Gene RIF (186)

AA Sequence

MIRLGAPQTLVLLTLLVAAVLRCQGQDVQEAGSCVQDGQRYNDKDVWKPEPCRICVCDTGTVLCDDIICE      1 - 70
DVKDCLSPEIPFGECCPICPTDLATASGQPGPKGQKGEPGDIKDIVGPKGPPGPQGPAGEQGPRGDRGDK     71 - 140
GEKGAPGPRGRDGEPGTPGNPGPPGPPGPPGPPGLGGNFAAQMAGGFDEKAGGAQLGVMQGPMGPMGPRG    141 - 210
PPGPAGAPGPQGFQGNPGEPGEPGVSGPMGPRGPPGPPGKPGDDGEAGKPGKAGERGPPGPQGARGFPGT    211 - 280
PGLPGVKGHRGYPGLDGAKGEAGAPGVKGESGSPGENGSPGPMGPRGLPGERGRTGPAGAAGARGNDGQP    281 - 350
GPAGPPGPVGPAGGPGFPGAPGAKGEAGPTGARGPEGAQGPRGEPGTPGSPGPAGASGNPGTDGIPGAKG    351 - 420
SAGAPGIAGAPGFPGPRGPPGPQGATGPLGPKGQTGEPGIAGFKGEQGPKGEPGPAGPQGAPGPAGEEGK    421 - 490
RGARGEPGGVGPIGPPGERGAPGNRGFPGQDGLAGPKGAPGERGPSGLAGPKGANGDPGRPGEPGLPGAR    491 - 560
GLTGRPGDAGPQGKVGPSGAPGEDGRPGPPGPQGARGQPGVMGFPGPKGANGEPGKAGEKGLPGAPGLRG    561 - 630
LPGKDGETGAAGPPGPAGPAGERGEQGAPGPSGFQGLPGPPGPPGEGGKPGDQGVPGEAGAPGLVGPRGE    631 - 700
RGFPGERGSPGAQGLQGPRGLPGTPGTDGPKGASGPAGPPGAQGPPGLQGMPGERGAAGIAGPKGDRGDV    701 - 770
GEKGPEGAPGKDGGRGLTGPIGPPGPAGANGEKGEVGPPGPAGSAGARGAPGERGETGPPGPAGFAGPPG    771 - 840
ADGQPGAKGEQGEAGQKGDAGAPGPQGPSGAPGPQGPTGVTGPKGARGAQGPPGATGFPGAAGRVGPPGS    841 - 910
NGNPGPPGPPGPSGKDGPKGARGDSGPPGRAGEPGLQGPAGPPGEKGEPGDDGPSGAEGPPGPQGLAGQR    911 - 980
GIVGLPGQRGERGFPGLPGPSGEPGKQGAPGASGDRGPPGPVGPPGLTGPAGEPGREGSPGADGPPGRDG    981 - 1050
AAGVKGDRGETGAVGAPGAPGPPGSPGPAGPTGKQGDRGEAGAQGPMGPSGPAGARGIQGPQGPRGDKGE   1051 - 1120
AGEPGERGLKGHRGFTGLQGLPGPPGPSGDQGASGPAGPSGPRGPPGPVGPSGKDGANGIPGPIGPPGPR   1121 - 1190
GRSGETGPAGPPGNPGPPGPPGPPGPGIDMSAFAGLGPREKGPDPLQYMRADQAAGGLRQHDAEVDATLK   1191 - 1260
SLNNQIESIRSPEGSRKNPARTCRDLKLCHPEWKSGDYWIDPNQGCTLDAMKVFCNMETGETCVYPNPAN   1261 - 1330
VPKKNWWSSKSKEKKHIWFGETINGGFHFSYGDDNLAPNTANVQMTFLRLLSTEGSQNITYHCKNSIAYL   1331 - 1400
DEAAGNLKKALLIQGSNDVEIRAEGNSRFTYTALKDGCTKHTGKWGKTVIEYRSQKTSRLPIIDIAPMDI   1401 - 1470
GGPEQEFGVDIGPVCFL                                                        1471 - 1487
//

Text Mined References (308)

PMID Year Title