Property Summary

NCBI Gene PubMed Count 30
PubMed Score 163.15
PubTator Score 70.16

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (6)

Disease Target Count
Abnormally small eyeball 97
Absence of rib 7
Absent auditory canals 23
Absent external auditory canals 23
Accessory rib 10
Agenesis of corpus callosum 83
Anophthalmos 13
Anterior pituitary hypoplasia 13
Atresia of the external auditory canal 23
Atretic auditory canal 23
Autosomal recessive predisposition 1442
Blepharoptosis 231
Brachycephaly 88
Broad cranium shape 88
Butterfly vertebrae 7
Capuchin ears 17
Cataract 297
Cognitive delay 608
Congenital Epicanthus 177
Congenital hemivertebra 25
Congenital hypoplasia of penis 176
Congenital ocular coloboma (disorder) 40
Cryptorchidism 296
Cupped ears (finding) 17
Decreased size of eyeball 97
Diabetes insipidus 18
Dilated ventricles (finding) 121
Downturned corners of mouth 48
Downward slant of palpebral fissure 158
Esophageal atresia 43
Exophthalmos 112
Frias syndrome 2
Frontal bossing 157
Fused vertebrae 25
Global developmental delay 608
High forehead 102
Horizontal Nystagmus 10
Hypogonadism, Isolated Hypogonadotropic 71
Hypogonadotropic hypogonadism 89
Hypoplasia of corpus callosum 90
Hypoplasia of scrotum 24
Hypoplasia of spine 2
Hypoplasia of the optic nerve 17
Hypoplastic mandible condyle 275
Hypothalamic hamartomas 4
Hypotrophic malar bone 129
Lens Opacities 231
Little's Disease 14
MICROPHTHALMIA, ISOLATED 1 7
Malar flattening 129
Mandibular hypoplasia 275
Mental and motor retardation 608
Micrognathism 275
Microphthalmos 100
Miosis disorder 6
Muscle hypotonia 571
OPTIC DISC ANOMALIES WITH RETINAL AND/OR MACULAR DYSTROPHY 1
Optic nerve aplasia 3
Orbital separation excessive 244
Patent ductus arteriosus 90
Penile hypospadias 106
Pituitary hypoplasia 23
Posteriorly rotated ear 61
Postnatal growth retardation 57
Preauricular skin tag 19
Prominent eyes 96
Prominent globes 96
Protruding eyes 96
Retinal Dystrophies 33
Rib fusion 16
Sensorineural Hearing Loss (disorder) 284
Short stature 531
Skin tag on the posterior cheek 19
Small head 374
Spastic Quadriplegia 42
Specific learning disability 47
Spinal fusion 25
Tall forehead 102
Thin hypoplastic alae nasi 51
Ventricular Septal Defects 119
Vertebral body fusion 25
Wide skull shape 88
Disease Target Count P-value
osteosarcoma 7950 2.1e-05
group 3 medulloblastoma 4104 3.5e-05
pituitary cancer 1972 9.6e-05
medulloblastoma, large-cell 6241 1.7e-02
Disease Target Count Z-score Confidence
Microphthalmia 76 3.88 1.9

Expression

  Differential Expression (4)

Disease log2 FC p
group 3 medulloblastoma 2.000 3.5e-05
medulloblastoma, large-cell 1.400 1.7e-02
osteosarcoma -1.112 2.1e-05
pituitary cancer 1.200 9.6e-05

Gene RIF (15)

AA Sequence

MFQLPILNFSPQQVAGVCETLEESGDVERLGRFLWSLPVAPAACEALNKNESVLRARAIVAFHGGNYREL      1 - 70
YHILENHKFTKESHAKLQALWLEAHYQEAEKLRGRPLGPVDKYRVRKKFPLPRTIWDGEQKTHCFKERTR     71 - 140
HLLREWYLQDPYPNPSKKRELAQATGLTPTQVGNWFKNRRQRDRAAAAKNRLQQQVLSQGSGRALRAEGD    141 - 210
GTPEVLGVATSPAASLSSKAATSAISITSSDSECDI                                      211 - 246
//

Text Mined References (33)

PMID Year Title