Property Summary

NCBI Gene PubMed Count 42
PubMed Score 109.69
PubTator Score 67.81

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (6)

Disease Target Count
Brachydactyly 156
Acquired scoliosis 281
Anteverted nostril 191
Bilateral fifth finger clinodactyly 110
Blepharoptosis 231
Broad feet 19
Broad flat nasal bridge 236
Broad forehead 59
Broad philtrum 4
Cervical spine hypermobility 1
Cleft Lip 141
Cleft Palate 271
Congenital Foot Deformity 4
Congenital clinodactyly 57
Congenital neurologic anomalies 20
Cryptorchidism 296
Curvature of digit 57
Curvature of little finger 110
Curvature of spine 282
Curved linear dimple below the lower lip 1
Decreased projection of maxilla 66
Deficiency of upper jaw bones 66
Delayed Puberty 97
Downward slant of palpebral fissure 158
Dull intelligence 645
Everted lower lip vermilion 54
Failure to gain weight 365
Fleshy earlobes 8
Flexion contracture of proximal interphalangeal joint 75
Hernia, Inguinal 89
High anterior hairline 7
Hyperextensible digits 7
Hyperopia 70
Hypodontia 81
Hypoplasia of the maxilla 66
Hypoplastic feet 66
Hypotrophic maxilla 66
Impaired cognition 96
Increased upper to lower segment ratio 1
Intellectual disability 1016
Joint hyperflexibility 78
Long philtrum 137
Low intelligence 645
Low-set, posteriorly rotated ears 110
Malformed pinnae 37
Maxillary retrognathia 66
Mental Retardation 645
Mental deficiency 645
Mental impairment 95
Nasal bridge wide 236
ODONTOID HYPOPLASIA 16
Orbital separation excessive 244
Pectus excavatum 100
Pediatric failure to thrive 365
Poor school performance 645
Prominent umbilicus 3
Protruding lower lip 54
Radially deviated fingers 38
Relative short stature 13
Retrusion of upper jaw bones 66
Round face 45
Round, full face 45
Shawl scrotum 9
Short hands 50
Short neck 140
Short nose 132
Short stature 531
Short stature, mild 13
Single transverse palmar crease 29
Skin hyperelastic 32
Small hand 36
Small nose 132
Spade-like hand 16
Strabismus 270
Syndactyly 88
Syndactyly of fingers 48
Umbilical hernia 93
Uranostaphyloschisis 167
WIDOW'S PEAK 6
X- linked recessive 110
Disease Target Count P-value
osteosarcoma 7950 6.0e-05
Disease Target Count Z-score Confidence
Carcinoma 11493 0.0 1.0
Kidney cancer 2613 0.0 0.6
Disease Target Count Z-score Confidence
Hepatic infarction 4 3.647 1.8
Swine influenza 8 3.539 1.8

Expression

  Differential Expression (1)

Disease log2 FC p
osteosarcoma 2.250 6.0e-05

Gene RIF (23)

AA Sequence

MHGHRAPGGAGPSEPEHPATNPPGAAPPACADSDPGASEPGLLARRGSGSALGGPLDPQFVGPSDTSLGA      1 - 70
APGHRVLPCGPSPQHHRALRFSYHLEGSQPRPGLHQGNRILVKSLSLDPGQSLEPHPEGPQRLRSDPGPP     71 - 140
TETPSQRPSPLKRAPGPKPQVPPKPSYLQMPRMPPPLEPIPPPPSRPLPADPRVAKGLAPRAEASPSSAA    141 - 210
VSSLIEKFEREPVIVASDRPVPGPSPGPPEPVMLPQPTSQPPVPQLPEGEASRCLFLLAPGPRDGEKVPN    211 - 280
RDSGIDSISSPSNSEETCFVSDDGPPSHSLCPGPPALASVPVALADPHRPGSQEVDSDLEEEDDEEEEEE    281 - 350
KDREIPVPLMERQESVELTVQQKVFHIANELLQTEKAYVSRLHLLDQVFCARLLEEARNRSSFPADVVHG    351 - 420
IFSNICSIYCFHQQFLLPELEKRMEEWDRYPRIGDILQKLAPFLKMYGEYVKNFDRAVELVNTWTERSTQ    421 - 490
FKVIIHEVQKEEACGNLTLQHHMLEPVQRIPRYELLLKDYLLKLPHGSPDSKDAQKSLELIATAAEHSNA    491 - 560
AIRKMERMHKLLKVYELLGGEEDIVSPTKELIKEGHILKLSAKNGTTQDRYLILFNDRLLYCVPRLRLLG    561 - 630
QKFSVRARIDVDGMELKESSNLNLPRTFLVSGKQRSLELQARTEEEKKDWVQAINSTLLKHEQTLETFKL    631 - 700
LNSTNREDEDTPPNSPNVDLGKRAPTPIREKEVTMCMRCQEPFNSITKRRHHCKACGHVVCGKCSEFRAR    701 - 770
LVYDNNRSNRVCTDCYVALHGVPGSSPACSQHTPQRRRSILEKQASVAAENSVICSFLHYMEKGGKGWHK    771 - 840
AWFVVPENEPLVLYIYGAPQDVKAQRSLPLIGFEVGPPEAGERPDRRHVFKITQSHLSWYFSPETEELQR    841 - 910
RWMAVLGRAGRGDTFCPGPTLSEDREMEEAPVAALGATAEPPESPQTRDKT                       911 - 961
//

Text Mined References (46)

PMID Year Title