Property Summary

NCBI Gene PubMed Count 90
PubMed Score 841.02
PubTator Score 295.24

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (6)

Disease Target Count
tarsal-carpal coalition syndrome 3
Hyperopia 70
Brachydactyly 156
ANONYCHIA 20
Abnormal vertebral bodies 16
Abnormality of the ankles 5
Absent distal interphalangeal creases 4
Absent distal phalanges 1
Absent fingernails 7
Absent interphalangeal creases 5
Absent/hypoplastic nails 2
Acquired cubitus valgus 18
Ankylosis of the elbow joint 7
Aplasia of the interphalangeal creases 5
Aplasia/Hypoplasia of the distal phalanges of the toes 2
Aplasia/Hypoplasia of the middle phalanges of the toes 5
BRACHYDACTYLY, TYPE B1 2
BRACHYDACTYLY, TYPE B2 (disorder) 1
Broad hallux 29
Broad thumbs 28
Carpal synostosis 12
Conductive hearing loss 123
Congenital anomaly of spine 16
Congenital clinodactyly 57
Congenital dislocation of radial head 14
Congenital stapes ankylosis 1
Curvature of digit 57
Cutaneous finger syndactyly 11
Enlargement of the costochondral junction 4
Fifth finger symphalangism 2
Flexion contracture of proximal interphalangeal joint 75
Fusion of midphalangeal joints 1
Hypoplasia of lower limb 4
Hypoplasia/agenesis of distal phalanges of toes 2
Hypoplastic feet 66
Hypoplastic finger 17
Hypoplastic nasal septum 2
Hypoplastic spinal processes 1
Hypoplastic sternum 5
Hypoplastic-absent toenails 11
Hypoplastic/aplastic distal phalanges 3
Long nose 15
Low hanging columella 4
Metacarpophalangeal synostosis 2
Multiple synostosis syndrome 3
Multiple vertebral anomalies 16
Narrow face 54
Pectus excavatum 100
Progressive conductive deafness 1
Progressive fusion 2nd-5th PIP joints 1
Proximal symphalangism of hands 2
Proximally placed thumbs 17
Radially deviated fingers 38
Rounded columella 4
STAPES ANKYLOSIS WITH BROAD THUMB AND TOES (disorder) 1
SYMPHALANGISM, PROXIMAL 2
SYMPHALANGISM, PROXIMAL, 1A 1
Sensorineural Hearing Loss (disorder) 284
Short 5th metacarpal 5
Short distal phalanges 50
Short distal phalanx of toe 2
Short finger 17
Short first metacarpals 11
Short hallux 16
Short leg 3
Short philtrum 53
Short stature 531
Short sternum 5
Short to absent middle phalanges 5
Short upper arms 16
Simple syndactyly of toes, first web space 23
Single transverse palmar crease 29
Soft tissue syndactyly of toes 3
Spinal canal stenosis 12
Stapes ankylosis 4
Strabismus 270
Symphalangism affecting the phalanges of the hand 5
Symphalangism-brachydactyly syndrome 3
Syndactyly of fingers 48
Syndactyly of the toes 45
Synostosis of carpal bones 9
Tarsal Coalition 12
Thick upper lip vermilion 4
Thin face 54
Thin hypoplastic alae nasi 51
Thin upper lip vermilion 67
Waddling gait 34
Disease Target Count Z-score Confidence
Type 2 diabetes mellitus 272 0.0 2.4

Expression

  Differential Expression (8)

Disease log2 FC p
adult high grade glioma -1.100 2.6e-02
atypical teratoid/rhabdoid tumor 1.500 3.6e-03
group 4 medulloblastoma -1.700 4.5e-03
medulloblastoma, large-cell -2.200 3.6e-03
mucosa-associated lymphoid tissue lympho... -1.205 2.1e-02
oligodendroglioma 1.400 2.7e-05
osteosarcoma -2.161 1.9e-04
sarcoidosis -1.300 3.4e-02

Gene RIF (58)

AA Sequence

MERCPSLGVTLYALVVVLGLRATPAGGQHYLHIRPAPSDNLPLVDLIEHPDPIFDPKEKDLNETLLRSLL      1 - 70
GGHYDPGFMATSPPEDRPGGGGGAAGGAEDLAELDQLLRQRPSGAMPSEIKGLEFSEGLAQGKKQRLSKK     71 - 140
LRRKLQMWLWSQTFCPVLYAWNDLGSRFWPRYVKVGSCFSKRSCSVPEGMVCKPSKSVHLTVLRWRCQRR    141 - 210
GGQRCGWIPIQYPIISECKCSC                                                    211 - 232
//

Text Mined References (92)

PMID Year Title