Property Summary

NCBI Gene PubMed Count 31
PubMed Score 5.60
PubTator Score 11.96

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (4)

Disease Target Count
Wolf-Hirschhorn syndrome 32
Abnormally-shaped vertebrae 31
Acquired scoliosis 274
Aplasia/Hypoplasia of the lungs 13
Arachnodactyly 49
Atrial Septal Defects 81
Blepharoptosis 229
Bowed and upward slanting eyebrows 39
Broad flat nasal bridge 232
Calvarial defect 10
Cerebellar Ataxia 302
Claw hand 25
Cleft Lip 141
Cognitive delay 596
Coloboma of iris 37
Congenital Epicanthus 175
Congenital anomaly of the kidney 12
Congenital clubfoot 108
Congenital deafness 180
Congenital diaphragmatic hernia 66
Congenital small ears 46
Cranial defect 10
Cryptorchidism 287
Curvature of spine 275
Deafness 193
Delayed bone age 132
Downturned corners of mouth 47
Downward slant of palpebral fissure 158
Epilepsy 775
Failure to gain weight 359
Fetal Growth Retardation 186
Focal absence of scalp tissue 5
Frontal bossing 154
Global developmental delay 596
Hearing Loss, Partial 180
Heart valve disease 38
Hemangioma 69
High anterior hairline 7
High forehead 101
Hyperkyphosis 109
Hypodontia 81
Hypoplasia of thumb 26
Hypoplastic mandible condyle 273
Hypoplastic pubic rami 3
Infant, Small for Gestational Age 174
Intrauterine retardation 174
Kidney Diseases 110
Kyphosis deformity of spine 112
Long narrow head 75
Low posterior hairline 52
Low-set, posteriorly rotated ears 109
Mandibular hypoplasia 273
Mental and motor retardation 596
Micrognathism 273
Muscle hypotonia 562
Narrow cranium shape 75
Narrow head shape 75
Narrow skull shape 75
Nasal bridge wide 232
Optic Atrophy 239
Orbital separation excessive 240
Pediatric failure to thrive 359
Penile hypospadias 102
Polydactyly preaxial type 1 8
Reduced fetal movement 51
Rib fusion 15
Rib segmentation abnormalities 8
Sacral dimples 18
Scalp aplasia cutis congenita 5
Scalp defect 5
Seizures 584
Severe mental retardation (I.Q. 20-34) 97
Short hallux 16
Short philtrum 51
Skull defect 10
Small head 366
Solitary scalp defect 5
Tall forehead 101
Tethered Cord Syndrome 7
Thick, flared eyebrows 39
Turridolichocephaly 75
VALVULAR ABNORMALITY 12
hearing impairment 194
Disease Target Count Z-score Confidence
Carcinoma 11192 0.0 0.6
Disease Target Count Z-score Confidence
Microcephaly 166 3.522 1.8

Expression

  Differential Expression (9)

Disease log2 FC p
adult high grade glioma -2.000 3.6e-04
astrocytic glioma -1.600 1.4e-02
Astrocytoma, Pilocytic -1.700 2.6e-05
atypical teratoid / rhabdoid tumor -1.900 1.3e-04
glioblastoma -1.700 7.5e-07
group 3 medulloblastoma -1.900 5.5e-03
lung cancer 1.100 2.4e-03
medulloblastoma, large-cell -3.200 3.4e-06
primitive neuroectodermal tumor -1.300 3.0e-02

 GWAS Trait (1)

Protein-protein Interaction (5)

Gene RIF (14)

AA Sequence

MASMRESDTGLWLHNKLGATDELWAPPSIASLLTAAVIDNIRLCFHGLSSAVKLKLLLGTLHLPRRTVDE      1 - 70
MKGALMEIIQLASLDSDPWVLMVADILKSFPDTGSLNLELEEQNPNVQDILGELREKVGECEASAMLPLE     71 - 140
CQYLNKNALTTLAGPLTPPVKHFQLKRKPKSATLRAELLQKSTETAQQLKRSAGVPFHAKGRGLLRKMDT    141 - 210
TTPLKGIPKQAPFRSPTAPSVFSPTGNRTPIPPSRTLLRKERGVKLLDISELDMVGAGREAKRRRKTLDA    211 - 280
EVVEKPAKEETVVENATPDYAAGLVSTQKLGSLNNEPALPSTSYLPSTPSVVPASSYIPSSETPPAPSSR    281 - 350
EASRPPEEPSAPSPTLPAQFKQRAPMYNSGLSPATPTPAAPTSPLTPTTPPAVAPTTQTPPVAMVAPQTQ    351 - 420
APAQQQPKKNLSLTREQMFAAQEMFKTANKVTRPEKALILGFMAGSRENPCQEQGDVIQIKLSEHTEDLP    421 - 490
KADGQGSTTMLVDTVFEMNYATGQWTRFKKYKPMTNVS                                    491 - 528
//

Text Mined References (38)

PMID Year Title