Property Summary

Ligand Count 319
NCBI Gene PubMed Count 451
PubMed Score 1050.14
PubTator Score 1032.93

Knowledge Summary

Patent (162,971)

TINX Plot

  Disease (8)

Disease Target Count
Craniosynostosis 74
Acanthosis Nigricans 27
Brachydactyly 156
Abnormal skeletal development 60
Abnormality of lower limb joint 1
Abnormality of metabolism/homeostasis 134
Abnormality of pelvic girdle bone morphology 37
Abnormality of the antihelix 10
Abnormality of the clavicle 14
Abnormality of the elbow 6
Abnormality of the femur 6
Abnormality of the metacarpal bones 17
Abnormality of the metaphyses 48
Abnormality of the ribs 32
Abnormally-shaped vertebrae 31
Absence of Stensen duct 4
Absence of radius and ulna 15
Absence of the parotid gland 3
Absent mandible 6
Absent proximal phalanx of thumb 3
Absent radius 15
Acquired scoliosis 281
Acrocephaly 12
Agenesis of parotid duct 4
Agenesis of punctum lacrimale 4
Alacrima 9
Angle class 2 malocclusion 57
Angle class 3 malocclusion 57
Anteverted nostril 191
Aplasia of the parotid gland 3
Aplasia/Hypoplasia of the lungs 13
Aplasia/Hypoplasia of the mandible 3
Arachnodactyly 49
Arnold Chiari Malformation 11
Asymmetry of the posterior cranium 20
Autosomal recessive predisposition 1442
Big calvaria 147
Bilateral fifth finger clinodactyly 110
Bilateral single transverse palmar creases 34
Bilateral triphalangeal thumbs 3
Bladder Neoplasm 112
Blepharoptosis 231
Blepharospasm 13
Bowing of the long bones 31
Brachycephaly 88
Broad cranium shape 88
Broad femoral metaphyses 1
Broad forehead 59
Broad hallux 29
Byzanthine arch palate 194
CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS (disorder) 1
Camptodactyly of toe 4
Capitate-hamate fusion 5
Capuchin ears 17
Carpal synostosis 12
Cartilaginous exostosis 2
Cerebellar hypoplasia and atrophy 41
Cerebral atrophy 178
Cervical vertebral abnormalities 6
Choanal Atresia 42
Chronic otitis media 52
Claw hand 26
Cloverleaf cranium shape 6
Cloverleaf skull 7
Cognitive delay 608
Concave bridge of nose 195
Conductive hearing loss 123
Cone-shaped epiphyses 24
Cone-shaped epiphyses of phalanges 15
Congenital absence of kidney 31
Congenital clinodactyly 57
Congenital deafness 185
Congenital hypoplasia of femur 8
Congenital hypoplasia of radius 23
Congenital small ears 48
Contracture of joint of hand 30
Convex nasal bridge 57
Convex nasal ridge 37
Corneal Ulcer 21
Coronal craniosynostosis 14
Coronal hypospadias 4
Cryptorchidism 296
Cupped ears (finding) 17
Curvature of digit 57
Curvature of little finger 110
Curvature of spine 282
Dacryocystitis 11
Deafness 198
Decreased projection of lower jaw 3
Decreased projection of maxilla 66
Decreased projection of midface 105
Defective enamel matrix 35
Deficiency of lower jaw 3
Deficiency of upper jaw bones 66
Degenerative brain disorder 100
Delayed eruption of primary teeth 10
Dental Enamel Hypoplasia 43
Dental caries 164
Depressed nasal bridge 195
Depressed nasal root/bridge 195
Diaphyseal thickening 11
Dilated ventricles (finding) 121
Downward slant of palpebral fissure 158
Dull intelligence 645
Dwarfism 37
Dwarfism, lethal micromelic 1
Dysplasia of tooth enamel 35
Ectopic Tissue 14
Enlarged cerebellum 3
Epilepsy 792
Epithelial corneal erosions 12
Excessive wrinkled skin 16
Exophthalmos 112
Facial asymmetry 32
Femoral bowing 20
Fetal Growth Retardation 189
Fibular bowing 5
Flat face 52
Flattening of cranial vault 20
Flattening of head 20
Flexion contracture of proximal interphalangeal joint 75
Frontal bossing 157
Generalized joint laxity 6
Generalized seizures 9
Generalized seizures, recurrent 9
Genu varum 29
Global developmental delay 608
Global developmental delay, severe 47
Gonadal Dysgenesis 28
Gonadal Dysgenesis, Mixed 19
Hearing Loss, Mixed Conductive-Sensorineural 12
Hearing Loss, Partial 185
Hereditary nonpolyposis colorectal carcinoma 18
High forehead 102
High, narrow palate 32
Hydrocephalus 152
Hyperhidrosis disorder 81
Hyperkyphosis 111
Hypochondroplasia (disorder) 1
Hypodontia 81
Hypoplasia of corpus callosum 90
Hypoplasia of foramen magnum 1
Hypoplasia of the lacrimal puncta 3
Hypoplasia of the maxilla 66
Hypoplastic feet 66
Hypoplastic ilia 12
Hypoplastic lacrimal duct 3
Hypoplastic lacrimal gland 3
Hypoplastic toes 29
Hypotrophic malar bone 129
Hypotrophic maxilla 66
Hypotrophic midface 105
Impaired cognition 96
Inadequate arch length for tooth size 45
Increased gastric cancer 21
Increased head circumference 147
Increased nuchal translucency 6
Increased size of cranium 147
Increased size of skull 147
Increased sweating 81
Increased vertebral height 4
Infant, Small for Gestational Age 176
Infantile muscular hypotonia 12
Inflammatory abnormality of the eye 10
Intellectual disability 1016
Intracranial hypertension 32
Intrauterine retardation 176
Iridocele 3
Isolated cases 72
Joint hyperflexibility 78
Kyphosis deformity of spine 114
Lacrimal Duct Obstruction 16
Lacrimal Puncta, Absence of 4
Lacrimal gland aplasia 3
Late fontanel closure 28
Leiomyosarcoma of uterus 13
Limited elbow extension 19
Limited hip extension 4
Long thorax 1
Lordosis 54
Low anterior hairline 30
Low intelligence 645
Lumbar kyphosis in infancy 1
Lumbar lordosis 35
Macrocephaly 11
Malar flattening 129
Malformed pinnae 37
Malignant neoplasm of urinary bladder 1
Malocclusion 57
Mandibular Retrusion 3
Maxillary retrognathia 66
Melanocytic nevus 43
Mental Retardation 645
Mental and motor retardation 608
Mental deficiency 645
Mental impairment 95
Mesomelia 8
Metaphyseal chondrodysplasia 7
Metaphyseal irregularity 23
Micromelia 58
Midface retrusion 105
Motor delay 147
Muscle hypotonia 571
NEVUS, EPIDERMAL (disorder) 5
Narrow internal auditory canal 8
Narrow palate 20
Narrow sacroiliac notch 4
Narrow thorax 53
Neonatal Death 14
No development of motor milestones 147
Noncancerous mole 28
Numerous nevi 5
Obesity 678
Obstruction of nasolacrimal duct 9
Open Bite 21
Orbital separation excessive 244
Osteochondrodysplasias 72
Otitis Media 52
Parotid gland hypoplasia 3
Partial duplication of thumb phalanx 6
Pectus excavatum 100
Peg shaped front tooth 6
Peg-shaped incisors 6
Periorbital fullness 9
Plagiocephaly 20
Plagiocephaly, Nonsynostotic 20
Platyspondyly 56
Pointed front tooth 6
Pointed incisor 6
Polyhydramnios 108
Poor school performance 645
Posterior fossa compression syndrome 2
Profound Mental Retardation 31
Profound intellectual disabilities 31
Prominent crus of helix 3
Prominent eyes 96
Prominent globes 96
Prominent nasal bridge 57
Protruding eyes 96
Pure gonadal dysgenesis 19
Radial aplasia 15
Radial deviation of the 3rd finger 4
Radial polydactyly 8
Radial ray hypoplasia 23
Radially deviated fingers 38
Recurrent erosion of cornea 12
Recurrent otitis media 42
Reduced fetal movement 51
Redundant skin 28
Respiratory Insufficiency 132
Respiratory function loss 121
Retrusion of upper jaw bones 66
Rhizomelia 25
Rhomboid shaped head 20
Rotting teeth 73
Seborrheic keratosis 8
Seizures 596
Sensorineural Hearing Loss (disorder) 284
Severe mental retardation (I.Q. 20-34) 99
Severe platyspondyly 5
Severe psychomotor retardation 47
Short extremities 7
Short femoral neck 15
Short hands 50
Short limb dwarfism recognizable at birth 9
Short middle phalanges 12
Short middle phalanx of toe 3
Short ribs 30
Short stature 531
Short thorax 21
Short tubular bones 22
Short ulnae 24
Short-limb dwarfism identifiable during childhood 2
Shortened sacroiliac notches 4
Simple syndactyly of fingers - first web 9
Skeletal dysplasia, San Diego type 1
Skin hyperelastic 32
Skull malformation 38
Sleep Apnea Syndromes 13
Sleep Apnea, Central 8
Sleep Apnea, Obstructive 10
Small abnormally formed scapulae 2
Small face 10
Small foramen magnum 1
Small head 374
Small midface 105
Small wings of the pelvic girdle 12
Somatic mutation 61
Spinal stenosis with reduced interpedicular distance 1
Splayed metaphyses 19
Stenosis of foramen magnum 1
Stomach Neoplasms 300
Strabismus 270
Structure of wormian bone 24
Subcoronal hypospadias 4
Sweating 81
Syndactyly of fingers 48
THANATOPHORIC DYSPLASIA, TYPE I (disorder) 1
Tall forehead 102
Tall stature 34
Tarsal Coalition 12
Telecanthus 62
Teratoma 8
Thenar hypoplasia 4
Thimble-shaped middle phalanges of hand 1
Thin dental enamel 35
Tibial bowing 19
Tooth Crowding 45
Tooth mass arch size discrepancy 45
Tooth size discrepancy 45
Transitional cell carcinoma of bladder 17
Trident hand 1
ULNAR HYPOPLASIA 24
Underdeveloped brows 38
Underdeveloped supraorbital ridges 38
Upper airway obstruction 6
Uterine Cervical Neoplasm 25
Visual field defects 19
Wide anterior fontanel 44
Wide skull shape 88
Wide-cupped costochondral junctions 1
Xerostomia 42
ear infection chronic 52
hearing impairment 199
nephrosclerosis 333
Disease Target Count Z-score Confidence
Urinary bladder cancer 36 0.0 5.0

Expression

  Differential Expression (20)

Disease log2 FC p
adult high grade glioma -1.100 4.1e-02
Astrocytoma, Pilocytic -1.400 5.7e-03
atypical teratoid / rhabdoid tumor -3.600 4.1e-05
Breast cancer 1.200 5.5e-03
breast carcinoma 1.500 4.5e-03
colon cancer -1.600 1.3e-02
cutaneous lupus erythematosus -2.000 6.0e-03
glioblastoma -1.600 1.0e-02
group 3 medulloblastoma -3.700 8.0e-06
interstitial cystitis -3.200 2.1e-04
invasive ductal carcinoma 2.100 1.5e-02
malignant mesothelioma 4.000 1.8e-09
medulloblastoma, large-cell -4.900 2.8e-06
oligodendroglioma -1.200 6.0e-05
osteosarcoma 1.168 5.0e-02
pancreatic cancer -1.700 2.4e-02
pituitary cancer -2.900 8.4e-03
primary pancreatic ductal adenocarcinoma -1.625 9.7e-03
psoriasis -1.400 6.8e-05
ulcerative colitis -1.800 8.6e-06

 CSPA Cell Line (2)

Gene RIF (356)

AA Sequence

MGAPACALALCVAVAIVAGASSESLGTEQRVVGRAAEVPGPEPGQQEQLVFGSGDAVELSCPPPGGGPMG      1 - 70
PTVWVKDGTGLVPSERVLVGPQRLQVLNASHEDSGAYSCRQRLTQRVLCHFSVRVTDAPSSGDDEDGEDE     71 - 140
AEDTGVDTGAPYWTRPERMDKKLLAVPAANTVRFRCPAAGNPTPSISWLKNGREFRGEHRIGGIKLRHQQ    141 - 210
WSLVMESVVPSDRGNYTCVVENKFGSIRQTYTLDVLERSPHRPILQAGLPANQTAVLGSDVEFHCKVYSD    211 - 280
AQPHIQWLKHVEVNGSKVGPDGTPYVTVLKTAGANTTDKELEVLSLHNVTFEDAGEYTCLAGNSIGFSHH    281 - 350
SAWLVVLPAEEELVEADEAGSVYAGILSYGVGFFLFILVVAAVTLCRLRSPPKKGLGSPTVHKISRFPLK    351 - 420
RQVSLESNASMSSNTPLVRIARLSSGEGPTLANVSELELPADPKWELSRARLTLGKPLGEGCFGQVVMAE    421 - 490
AIGIDKDRAAKPVTVAVKMLKDDATDKDLSDLVSEMEMMKMIGKHKNIINLLGACTQGGPLYVLVEYAAK    491 - 560
GNLREFLRARRPPGLDYSFDTCKPPEEQLTFKDLVSCAYQVARGMEYLASQKCIHRDLAARNVLVTEDNV    561 - 630
MKIADFGLARDVHNLDYYKKTTNGRLPVKWMAPEALFDRVYTHQSDVWSFGVLLWEIFTLGGSPYPGIPV    631 - 700
EELFKLLKEGHRMDKPANCTHDLYMIMRECWHAAPSQRPTFKQLVEDLDRVLTVTSTDEYLDLSAPFEQY    701 - 770
SPGGQDTPSSSSSGDDSVFAHDLLPPAPPSSGGSRT                                      771 - 806
//

Text Mined References (461)

PMID Year Title