Property Summary

NCBI Gene PubMed Count 133
PubMed Score 401.84
PubTator Score 263.40

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (7)

Disease Target Count
Brachydactyly 156
Abnormal finger flexion creases 3
Abnormal skeletal development 60
Abnormality of epiphysis morphology 39
Abnormality of the ankles 5
Abnormality of the fingernails 51
Abnormality of the hip bone 16
Abnormality of the radius 3
Abnormality of the tibia 9
Abnormality of the ulna 10
Abnormally shaped carpal bones 1
Absent toes 4
Absent/hypoplastic middle phalanx of 5th finger 4
Acquired deformity of finger 3
Acquired flat foot 72
Acquired scoliosis 281
Acromesomelia 2
Acromesomelic dysplasia Hunter-Thompson type 1
Angel shaped phalangoepiphyseal dysplasia 1
Ankylosis of the elbow joint 7
Aplasia of the middle phalanges of the toes 2
Aplasia/Hypoplasia involving the metacarpal bones 5
Aplasia/Hypoplasia of metatarsal bones 3
Aplasia/Hypoplasia of the 1st metacarpal 2
Aplasia/Hypoplasia of the middle phalanges of the toes 5
Autosomal recessive predisposition 1442
BRACHYDACTYLY, TYPE A1 (disorder) 3
Bilateral fifth finger clinodactyly 110
Bilateral single transverse palmar creases 34
Bowing of the long bones 31
Brachydactyly syndrome type C 2
Bracket epiphysis of the middle phalanx of the 2nd finger 3
Bracket epiphysis of the middle phalanx of the 5th finger 3
Broad hallux 29
Bunion 26
Carpal synostosis 12
Complete duplication of distal phalanx of the thumb 2
Cone-shaped epiphyses 24
Cone-shaped epiphyses of middle phalanges 2
Congenital hypoplasia of femur 8
Congenital hypoplasia of radius 23
Contracture 96
Contracture of joint 93
Cuboidal metacarpal 1
Curvature of little finger 110
Curvature of spine 282
Death in early childhood 82
Death in infancy 82
Decreased joint mobility 53
Deformed tarsal bones 1
Degenerative polyarthritis 115
Disproportionately short middle phalanges 6
Distal femoral bowing 3
Enlarged epiphysis of the middle phalanx of the 2nd finger 1
Enlarged epiphysis of the middle phalanx of the 3rd finger 1
Enlarged epiphysis of the proximal phalanx of the 2nd finger 1
Enlarged epiphysis of the proximal phalanx of the 3rd finger 1
Equinovalgus deformity 4
Fibular aplasia 6
Fibular hypoplasia 9
Fifth finger symphalangism 2
Finger symphalangism 1
Flatfoot 73
Flexion contracture 93
Flexion contracture of proximal interphalangeal joint 75
Flexion contractures of joints 93
Fused vertebrae 25
Hallux Valgus 26
Hip Dislocation, Congenital 48
Hypersegmentation of proximal phalanx of second finger 1
Hypersegmentation of proximal phalanx of third finger 1
Hypodontia 81
Hypoplasia of thumb 26
Hypoplastic feet 66
Hypoplastic toes 29
Hypoplastic-absent toenails 11
Hypoplastic/aplastic fibulae 5
Hypoplastic/aplastic middle phalanx (2nd finger) 4
Impaired cognition 96
Joint stiffness 84
Late tooth eruption 61
Madelung Deformity 5
Malaligned carpal bone 1
Medially deviated second toe 3
Mental impairment 95
Metacarpophalangeal synostosis 2
Micromelia 58
Micronychia (disorder) 24
Multiple synostosis syndrome 3
Narrow nose 20
Osteoarthritis of hip 6
Osteochondrodysplasias 72
Patella aplasia-hypoplasia 12
Pinched bridge of nose 14
Pinched nasal bridge 14
Polydactyly 107
Pseudoepiphyses of the 2nd finger 2
Pseudoepiphyses of the 3rd finger 1
Radial bowing 13
Radial ray hypoplasia 23
Radiohumeral synostosis of elbow 8
Ramer Ladda syndrome 8
Rheumatoid arthritis 1191
Rhizomelia 25
SYMPHALANGISM, PROXIMAL 2
Sarcoma 62
Second finger clinodactyly 5
Sensorineural Hearing Loss (disorder) 284
Severe short-limb dwarfism 4
Short 3rd finger 1
Short digit 2
Short first metacarpals 11
Short hallux 16
Short index finger 6
Short limb dwarfism, disproportionate 22
Short metacarpal 43
Short metatarsal 21
Short middle phalanges 12
Short middle phalanx of the 5th finger 13
Short phalanx of finger 32
Short stature 531
Short tibia 9
Short ulnae 24
Short upper arms 16
Shortening of all proximal phalanges of the fingers 2
Simple syndactyly of toes, first web space 23
Single transverse palmar crease 29
Speech Disorders 58
Spinal fusion 25
Stillbirth 17
Stippling of the epiphysis of the distal phalanx of the thumb 2
Symphalangism-brachydactyly syndrome 3
Synostosis of carpal bones 9
Talipes Equinovalgus 4
Tarsal Coalition 12
Thumb absent or hypoplastic 9
Thumb deformity 3
Triangular epiphysis of the middle phalanx of the 2nd finger 1
Triangular epiphysis of the middle phalanx of the 3rd finger 1
Triangular epiphysis of the proximal phalanx of the 2nd finger 1
Triangular epiphysis of the proximal phalanx of the 3rd finger 1
Triangular shaped middle phalanx of the 2nd finger 3
Triangular shaped middle phalanx of the 3rd finger 1
Triangular shaped middle phalanx of the 5th finger 3
Triangular shaped proximal phalanx of the 2nd finger 1
Triangular shaped proximal phalanx of the 3rd finger 1
ULNAR HYPOPLASIA 24
Ulnar angulation of the index finger 5
Ulnar deviation of 3rd fingers 1
Ulnar deviation of the fingers 21
Ulnar polydactyly of fingers 47
Valgus deformities of feet 1
Valgus hand deformity 1
Vertebral body fusion 25
Very short digits 2
Wide nose 35
Disease Target Count Z-score Confidence
Carcinoma 11493 0.0 0.9
Disease Target Count Z-score Confidence
Acquired metabolic disease 336 0.0 3.0

Expression

  Differential Expression (4)

Disease log2 FC p
atypical teratoid / rhabdoid tumor 1.600 6.4e-03
malignant mesothelioma -3.900 8.8e-09
medulloblastoma, large-cell 1.100 2.7e-04
osteosarcoma 1.555 2.0e-05

Gene RIF (107)

AA Sequence

MRLPKLLTFLLWYLAWLDLEFICTVLGAPDLGQRPQGTRPGLAKAEAKERPPLARNVFRPGGHSYGGGAT      1 - 70
NANARAKGGTGQTGGLTQPKKDEPKKLPPRPGGPEPKPGHPPQTRQATARTVTPKGQLPGGKAPPKAGSV     71 - 140
PSSFLLKKAREPGPPREPKEPFRPPPITPHEYMLSLYRTLSDADRKGGNSSVKLEAGLANTITSFIDKGQ    141 - 210
DDRGPVVRKQRYVFDISALEKDGLLGAELRILRKKPSDTAKPAAPGGGRAAQLKLSSCPSGRQPASLLDV    211 - 280
RSVPGLDGSGWEVFDIWKLFRNFKNSAQLCLELEAWERGRAVDLRGLGFDRAARQVHEKALFLVFGRTKK    281 - 350
RDLFFNEIKARSGQDDKTVYEYLFSQRRKRRAPLATRQGKRPSKNLKARCSRKALHVNFKDMGWDDWIIA    351 - 420
PLEYEAFHCEGLCEFPLRSHLEPTNHAVIQTLMNSMDPESTPPTCCVPTRLSPISILFIDSANNVVYKQY    421 - 490
EDMVVESCGCR                                                               491 - 501
//

Text Mined References (139)

PMID Year Title