Property Summary

NCBI Gene PubMed Count 41
PubMed Score 153.58
PubTator Score 74.13

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (7)

Disease Target Count
Muscular dystrophy 75
Hydrocephalus 152
Intellectual disability 1016
Abnormality of retinal pigmentation 111
Abnormality of the retinal vasculature 59
Abnormality of the voice 46
Abnormally small eyeball 97
Anteverted nostril 191
Atrophic retina 7
Atypical scarring of skin 62
Autosomal recessive predisposition 1442
Blind Vision 111
Blindness, Legal 110
Broad flat nasal bridge 236
Cataract 297
Cerebellar Hypoplasia 61
Cerebellar cyst 5
Cerebellar dysplasia 8
Cloudy cornea 33
Cobblestone Lissencephaly 8
Conductive hearing loss 123
Congenital anomaly of testis 52
Congenital hypoplasia of penis 176
Congenital keratoglobus 14
Congenital muscular dystrophy (disorder) 14
Congenital myopia 1
Congenital ocular coloboma (disorder) 40
Corneal diameter increased 13
Corneal stromal opacities 33
Creatine phosphokinase serum increased 110
Decreased amplitudes on flash visual electroretinogram 13
Decreased projection of midface 105
Decreased size of eyeball 97
Difficulty walking up stairs 12
Dilated ventricles (finding) 121
Dull intelligence 645
Electroencephalogram abnormal 101
Electromyogram abnormal 49
Electroretinogram abnormal 95
Elevated creatine kinase 110
Enlarged flash visual evoked potentials 1
Epilepsy 792
Everted lower lip vermilion 54
Extinguished electroretinogram 15
Fatigue 182
Gait abnormality 135
Generalized hypotonia 37
Generalized muscle weakness 57
Glaucoma 239
Global developmental delay, severe 47
Globe of eye large 20
Gowers sign 24
Gowers sign present 24
Highly variable clinical phenotype 150
Highly variable phenotype and severity 150
Highly variable phenotype, even within families 150
Hydrophthalmos 19
Hyperinsulinism 133
Hypogonadism 173
Hypoplasia of the brainstem 22
Hypoplastic mandible condyle 275
Hypotonia, severe 33
Hypotrophic malar bone 129
Hypotrophic midface 105
Impaired cognition 96
Keratoconus 113
Lens Opacities 231
Lordosis 54
Low Vision 174
Low intelligence 645
MUSCULAR DYSTROPHY, CONGENITAL, 1C 9
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 3 1
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1 7
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14 7
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2 7
Malar flattening 129
Mandibular hypoplasia 275
Mental Retardation 645
Mental deficiency 645
Mental impairment 95
Micrognathism 275
Microphthalmos 100
Midface retrusion 105
Motor delay 147
Muscle Hypertonia 88
Muscle Spasticity 195
Muscle Weakness 170
Muscle biopsy shows dystrophic changes 39
Muscle hypotonia 571
Myoclonus 74
Myopathy 185
Myopia 176
Nasal bridge wide 236
Night blindness, progressive 51
No development of motor milestones 147
Nystagmus 317
Obesity 678
Ophthalmoplegia 106
Optic Atrophy 242
Pachygyria 41
Pallor 40
Phenotypic variability 150
Photodysphoria 121
Photophobia 121
Polymicrogyria 48
Pontine hypoplasia 7
Poor school performance 645
Prenatal onset 139
Profound Mental Retardation 31
Profound intellectual disabilities 31
Progressive disorder 142
Protruding lower lip 54
Retinal Degeneration 106
Retinal Dysplasia 11
Retinal hypoplasia 1
Retinal pigment epithelial abnormality 111
Seizures 596
Sensorineural Hearing Loss (disorder) 284
Severe mental retardation (I.Q. 20-34) 99
Severe psychomotor retardation 47
Short nasal bridge 2
Skeletal muscle hypertrophy 16
Small head 374
Small midface 105
Speech Disorders 58
Strabismus 270
Uncontrolled eye movements 1
Visual Impairment 174
Walker-Warburg congenital muscular dystrophy 14
Disease Target Count Z-score Confidence
Carcinoma 11493 0.0 0.9
Disease Target Count Z-score Confidence
Periventricular nodular heterotopia 30 3.269 1.6

Expression

  Differential Expression (8)

Disease log2 FC p
atypical teratoid / rhabdoid tumor 1.600 4.1e-04
ependymoma 1.300 7.9e-04
glioblastoma 1.600 6.6e-03
group 4 medulloblastoma 1.300 8.3e-03
lung carcinoma 1.300 2.1e-35
medulloblastoma, large-cell 1.500 5.8e-05
osteosarcoma 1.475 8.2e-07
pediatric high grade glioma 1.100 1.9e-02

PDB (10)

Gene RIF (23)

AA Sequence

MDDWKPSPLIKPFGARKKRSWYLTWKYKLTNQRALRRFCQTGAVLFLLVTVIVNIKLILDTRRAISEANE      1 - 70
DPEPEQDYDEALGRLEPPRRRGSGPRRVLDVEVYSSRSKVYVAVDGTTVLEDEAREQGRGIHVIVLNQAT     71 - 140
GHVMAKRVFDTYSPHEDEAMVLFLNMVAPGRVLICTVKDEGSFHLKDTAKALLRSLGSQAGPALGWRDTW    141 - 210
AFVGRKGGPVFGEKHSKSPALSSWGDPVLLKTDVPLSSAEEAECHWADTELNRRRRRFCSKVEGYGSVCS    211 - 280
CKDPTPIEFSPDPLPDNKVLNVPVAVIAGNRPNYLYRMLRSLLSAQGVSPQMITVFIDGYYEEPMDVVAL    281 - 350
FGLRGIQHTPISIKNARVSQHYKASLTATFNLFPEAKFAVVLEEDLDIAVDFFSFLSQSIHLLEEDDSLY    351 - 420
CISAWNDQGYEHTAEDPALLYRVETMPGLGWVLRRSLYKEELEPKWPTPEKLWDWDMWMRMPEQRRGREC    421 - 490
IIPDVSRSYHFGIVGLNMNGYFHEAYFKKHKFNTVPGVQLRNVDSLKKEAYEVEVHRLLSEAEVLDHSKN    491 - 560
PCEDSFLPDTEGHTYVAFIRMEKDDDFTTWTQLAKCLHIWDLDVRGNHRGLWRLFRKKNHFLMVGVPASP    561 - 630
YSVKKPPSVTPIFLEPPPKEEGAPGAPEQT                                            631 - 660
//

Text Mined References (43)

PMID Year Title