Property Summary

NCBI Gene PubMed Count 59
PubMed Score 199.58
PubTator Score 589.65

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (5)

Disease Target Count
Brachydactyly 156
VACTERL association 26
Esophageal atresia 43
2nd-5th toe middle phalangeal hypoplasia 2
3-4 toe syndactyly 3
6 metacarpals 2
Abnormal vertebral bodies 16
Abnormality of the nasopharynx 9
Abnormality of the ribs 32
Absence of radius and ulna 15
Absent distal interphalangeal creases 4
Absent radius 15
Acquired scoliosis 281
Anus, Imperforate 46
Aplasia/Hypoplasia of the lungs 13
Bilateral fifth finger clinodactyly 110
Brachydactyly syndrome type E 2
Broad distal phalanx (thumb) 3
Broad distal phalanx of the hallux 1
Bunion 26
Camptodactyly of 5th fingers 2
Carpal synostosis 12
Choanal Atresia 42
Congenital absence of kidney 31
Congenital anomaly of spine 16
Congenital diaphragmatic hernia 67
Congenital hypoplasia of clavicle 18
Congenital hypoplasia of radius 23
Contracture of joint of hand 30
Curvature of little finger 110
Curvature of spine 282
Cutaneous finger syndactyly 11
Defect of vertebral segmentation 17
Discordant ventriculoarterial connection 17
Ectopic kidney 11
Enlarged proximal interphalangeal joints 1
Failure to gain weight 365
Fetal Growth Retardation 189
Fibular polydactyly 12
Flexion contracture of proximal interphalangeal joint 75
Fused 4th-5th metacarpals 2
Hallux Valgus 26
Heart Septal Defects 24
Hydronephrosis 89
Hypoplasia of thumb 26
Infant, Small for Gestational Age 176
Intrauterine retardation 176
Isolated cases 72
Joint hyperflexibility 78
Large bregma sutures 46
Large fontanelle 46
Large, late-closing fontanelle 46
Laryngomalacia 14
Laryngostenosis 10
Mesoaxial hand polydactyly 4
Metacarpal synostosis 3
Metatarsal synostosis 4
Multiple buried teeth 2
Multiple impacted teeth 2
Multiple vertebral anomalies 16
Obstruction of pelviureteric junction 8
Occipital Encephalocele 10
Patent ductus arteriosus 90
Pediatric failure to thrive 365
Penile hypospadias 106
Persistent umbilical sinus 1
Polyhydramnios 108
Postaxial foot polydactyly 12
Postnatal growth retardation 57
Premature Birth 77
Premature birth of newborn 67
RENAL ADYSPLASIA 25
Radial aplasia 15
Radial aplasia/hypoplasia 29
Radial polydactyly 8
Radial ray hypoplasia 23
Radioulnar synostosis 35
Renal dysplasia 28
Rheumatoid arthritis 1191
Round face 45
Round, full face 45
Short 5th metacarpal 5
Short distal phalanges 50
Short fifth metatarsal 2
Short metacarpal 43
Short metatarsal 21
Short middle phalanx of the 2nd finger 2
Short middle phalanx of the 5th finger 13
Short stature 531
Short stature, moderate 3
Simple syndactyly of toes, first web space 23
Single umbilical artery 5
Sternal anomalies 19
Straight clavicles 1
Symphalangism affecting the phalanges of the hand 5
Syndactyly (4-5 toes) 3
Syndactyly of fingers 48
Syndactyly of the toes 45
Syndactyly, 3rd-4th finger 3
Tethered Cord Syndrome 7
Tetralogy of Fallot 63
Tracheal stenosis 23
Tracheoesophageal Fistula 36
Triphalangeal thumb 9
Ulnar deviation of the fingers 21
Ventricular Septal Defects 119
Vesico-Ureteral Reflux 33
Wide bregma sutures 46
Y-shaped metacarpals 2
spina bifida 1074
Disease Target Count P-value
psoriasis 6694 4.3e-09
lung cancer 4740 7.7e-07
medulloblastoma, large-cell 6241 1.1e-03
osteosarcoma 7950 3.4e-02
Disease Target Count
Brachydactyly type E 2
Synpolydactyly 1 1

Expression

  Differential Expression (4)

Disease log2 FC p
lung cancer 4.400 7.7e-07
medulloblastoma, large-cell 2.000 1.1e-03
osteosarcoma 2.084 3.4e-02
psoriasis 3.300 4.3e-09

 GO Component (1)

Gene RIF (44)

AA Sequence

MSRAGSWDMDGLRADGGGAGGAPASSSSSSVAAAAASGQCRGFLSAPVFAGTHSGRAAAAAAAAAAAAAA      1 - 70
ASGFAYPGTSERTGSSSSSSSSAVVAARPEAPPAKECPAPTPAAAAAAPPSAPALGYGYHFGNGYYSCRM     71 - 140
SHGVGLQQNALKSSPHASLGGFPVEKYMDVSGLASSSVPANEVPARAKEVSFYQGYTSPYQHVPGYIDMV    141 - 210
STFGSGEPRHEAYISMEGYQSWTLANGWNSQVYCTKDQPQGSHFWKSSFPGDVALNQPDMCVYRRGRKKR    211 - 280
VPYTKLQLKELENEYAINKFINKDKRRRISAATNLSERQVTIWFQNRRVKDKKIVSKLKDTVS           281 - 343
//

Text Mined References (62)

PMID Year Title