Property Summary

NCBI Gene PubMed Count 40
PubMed Score 552.79
PubTator Score 12.28

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (7)

Disease Target Count
Abnormality of the voice 46
Abnormally small eyeball 97
Absent auditory canals 23
Absent external auditory canals 23
Absent reflex 92
Absent tendon reflex 92
Agenesis of corpus callosum 83
Anus, Imperforate 46
Atresia of the external auditory canal 23
Atretic auditory canal 23
Atrophic retina 7
Autosomal recessive predisposition 1442
Babinski Reflex 100
Bell Palsy 58
Blind Vision 111
Blindness, Legal 110
Cataract 297
Cerebellar Hypoplasia 61
Cerebellar dysplasia 8
Cleft Lip 141
Cleft Palate 271
Clouding of corneal stroma 50
Cobblestone Lissencephaly 8
Cognitive delay 608
Congenital joint contractures 9
Congenital keratoglobus 14
Congenital muscular dystrophy (disorder) 14
Congenital ocular coloboma (disorder) 40
Congenital small ears 48
Contracture 96
Contracture of joint 93
Contracture of joint of hand 30
Contracture of tendo achilles 10
Corneal Opacity 53
Corneal diameter increased 13
Creatine phosphokinase serum increased 110
Dandy-Walker Syndrome 39
Decreased amplitudes on flash visual electroretinogram 13
Decreased size of eyeball 97
Dull intelligence 645
EMG: myopathic abnormalities 22
Electroencephalogram abnormal 101
Electromyogram abnormal 49
Elevated creatine kinase 110
Epilepsy 792
Excessive daytime somnolence 14
Facial Paresis 59
Facial muscle weakness of muscles innervated by CN VII 58
Flexion contracture 93
Flexion contracture - elbow 32
Flexion contractures of joints 93
Gait abnormality 135
Glaucoma 239
Global developmental delay 608
Globe of eye large 20
Highly variable clinical phenotype 150
Highly variable phenotype and severity 150
Highly variable phenotype, even within families 150
Horizontal Nystagmus 10
Hydrocephalus 152
Hydrophthalmos 19
Hypoplasia of corpus callosum 90
Hypoplasia of the brainstem 22
Hypoplasia of the optic nerve 17
Hypoplastic male genitalia 7
Hypotonia, severe 33
Impaired cognition 96
Infantile onset 238
Intellectual disability 1016
Irido-corneo-trabecular dysgenesis (disorder) 10
Lens Opacities 231
Low Vision 174
Low intelligence 645
Lower limb hyperreflexia 10
MUSCULAR DYSTROPHY, CONGENITAL, 1C 9
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
Macroglossia 65
Malformations of Cortical Development, Group II 31
Meningoencephalocele 4
Mental Retardation 645
Mental and motor retardation 608
Mental deficiency 645
Mental impairment 95
Microphthalmos 100
Motor delay 147
Muscle Hypertonia 88
Muscle biopsy shows dystrophic changes 39
Muscle eye brain disease 8
Muscle hypotonia 571
Muscular Dystrophy, Congenital, Type 1D 5
Muscular dystrophy 75
Myopathy 185
Myopia 176
No development of motor milestones 147
Occipital Encephalocele 10
Optic Atrophy 242
Pachygyria 41
Periventricular white matter abnormalities 8
Phenotypic variability 150
Polymicrogyria 48
Pontine hypoplasia 7
Poor school performance 645
Posterior fossa cyst 8
Profound Mental Retardation 31
Profound intellectual disabilities 31
Proximal muscle weakness 47
Proximal neurogenic muscle weakness 47
RENAL ADYSPLASIA 25
Reflex, Deep Tendon, Absent 92
Renal dysplasia 28
Retinal Degeneration 106
Retinal Detachment 51
Retinal Dysplasia 11
Seizures 596
Severe mental retardation (I.Q. 20-34) 99
Short stature 531
Small head 374
Speech Disorders 58
Strabismus 270
Thick cerebral cortex 5
Uranostaphyloschisis 167
Visual Impairment 174
Walker-Warburg congenital muscular dystrophy 14
Disease Target Count Z-score Confidence
Carcinoma 11493 0.0 0.9
Kidney cancer 2613 0.0 0.6
Disease Target Count Z-score Confidence
Acquired metabolic disease 336 0.0 1.9
Disease Target Count Z-score Confidence
Congenital muscular dystrophy 29 0.0 4.0
Lissencephaly 69 0.0 4.0

Expression

  Differential Expression (14)

Disease log2 FC p
adult high grade glioma -1.300 3.2e-04
atypical teratoid / rhabdoid tumor -1.400 1.3e-05
colon cancer -1.400 4.8e-02
cutaneous lupus erythematosus -1.100 4.5e-03
ependymoma -1.100 2.7e-02
glioblastoma -1.100 1.8e-08
group 4 medulloblastoma -1.200 4.3e-04
Hydrolethalus syndrome -1.311 3.9e-02
lung cancer -1.200 4.7e-02
malignant mesothelioma 4.300 4.1e-08
medulloblastoma, large-cell -1.400 4.8e-05
osteosarcoma -1.332 4.6e-05
primitive neuroectodermal tumor -1.300 2.7e-05
psoriasis -2.500 1.8e-05

Protein-protein Interaction (1)

Gene RIF (20)

AA Sequence

MLGICRGRRKFLAASLSLLCIPAITWIYLFSGSFEDGKPVSLSPLESQAHSPRYTASSQRERESLEVRMR      1 - 70
EVEEENRALRRQLSLAQGRAPSHRRGNHSKTYSMEEGTGDSENLRAGIVAGNSSECGQQPVVEKCETIHV     71 - 140
AIVCAGYNASRDVVTLVKSVLFHRRNPLHFHLIADSIAEQILATLFQTWMVPAVRVDFYNADELKSEVSW    141 - 210
IPNKHYSGIYGLMKLVLTKTLPANLERVIVLDTDITFATDIAELWAVFHKFKGQQVLGLVENQSDWYLGN    211 - 280
LWKNHRPWPALGRGYNTGVILLLLDKLRKMKWEQMWRLTAERELMGMLSTSLADQDIFNAVIKQNPFLVY    281 - 350
QLPCFWNVQLSDHTRSEQCYRDVSDLKVIHWNSPKKLRVKNKHVEFFRNLYLTFLEYDGNLLRRELFGCP    351 - 420
SEADVNSENLQKQLSELDEDDLCYEFRRERFTVHRTHLYFLHYEYEPAADSTDVTLVAQLSMDRLQMLEA    421 - 490
ICKHWEGPISLALYLSDAEAQQFLRYAQGSEVLMSRHNVGYHIVYKEGQFYPVNLLRNVAMKHISTPYMF    491 - 560
LSDIDFLPMYGLYEYLRKSVIQLDLANTKKAMIVPAFETLRYRLSFPKSKAELLSMLDMGTLFTFRYHVW    561 - 630
TKGHAPTNFAKWRTATTPYRVEWEADFEPYVVVRRDCPEYDRRFVGFGWNKVAHIMELDVQEYEFIVLPN    631 - 700
AYMIHMPHAPSFDITKFRSNKQYRICLKTLKEEFQQDMSRRYGFAALKYLTAENNS                  701 - 756
//

Text Mined References (41)

PMID Year Title