Property Summary

NCBI Gene PubMed Count 49
PubMed Score 236.87
PubTator Score 196.71

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (7)

Disease Target Count
Muscular dystrophy 75
Intellectual disability 1016
Hydrocephalus 152
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
Acquired scoliosis 281
Agenesis of corpus callosum 83
Anus, Imperforate 46
Asymmetry of the posterior cranium 20
Atresia of the external auditory canal 23
Atretic auditory canal 23
Atrial Septal Defects 85
Atrophic retina 7
Autosomal recessive predisposition 1442
Blind Vision 111
Blindness, Legal 110
Brachycephaly 88
Broad cranium shape 88
Calf muscle hypertrophy 9
Cardiomyopathy, Dilated 83
Cataract 297
Cerebellar Hypoplasia 61
Cerebellar cyst 5
Cerebellar dysplasia 8
Cleft Lip 141
Cleft Palate 271
Clouding of corneal stroma 50
Cobblestone Lissencephaly 8
Cognitive delay 608
Congenital cerebral hernia 21
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
Corneal Opacity 53
Corneal diameter increased 13
Creatine phosphokinase serum increased 110
Curvature of spine 282
Dandy-Walker Syndrome 39
Decreased size of eyeball 97
Decreased tendon reflex 122
Delayed speech and language development 112
Dilated ventricles (finding) 121
Discordant ventriculoarterial connection 17
Dull intelligence 645
Electroencephalogram abnormal 101
Electromyogram abnormal 49
Elevated creatine kinase 110
Epilepsy 792
Excessive daytime somnolence 14
Flattening of cranial vault 20
Flattening of head 20
Flexion contracture 93
Flexion contracture of proximal interphalangeal joint 75
Flexion contractures of joints 93
Fukuyama Type Congenital Muscular Dystrophy 1
Gait abnormality 135
Glaucoma 239
Global developmental delay 608
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
Highly variable severity 157
Hydrophthalmos 19
Hyperopia 70
Hypoglycosylation of alpha-dystroglycan 1
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
Irido-corneo-trabecular dysgenesis (disorder) 10
LEFT VENTRICULAR NONCOMPACTION 10 40
LEFT VENTRICULAR NONCOMPACTION 8 40
Language Delay 112
Lens Opacities 231
Lordosis 54
Low Vision 174
Low intelligence 645
MUSCULAR DYSTROPHY, CONGENITAL, 1C 9
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2M 1
Mask-like facies 25
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 Weakness 170
Muscle biopsy shows dystrophic changes 39
Muscle eye brain disease 8
Muscle hypotonia 571
Myocardial fibrosis 3
Myopathy 185
Myopia 176
Neurogenic Muscular Atrophy 139
Neurogenic muscle atrophy, especially in the lower limbs 139
No development of motor milestones 147
Occipital Encephalocele 10
Optic Atrophy 242
Pachygyria 41
Pectus excavatum 100
Phenotypic variability 150
Plagiocephaly 20
Plagiocephaly, Nonsynostotic 20
Polymicrogyria 48
Poor school performance 645
Posterior fossa cyst 8
Profound Mental Retardation 31
Profound intellectual disabilities 31
Progressive disorder 142
Proximal muscle weakness 47
Proximal neurogenic muscle weakness 47
Pulmonary Stenosis 45
Pyramidal tract hypoplasia 1
RENAL ADYSPLASIA 25
Reflex, Deep Tendon, Absent 92
Renal dysplasia 28
Respiratory Insufficiency 132
Respiratory function loss 121
Retinal Degeneration 106
Retinal Detachment 51
Retinal Dysplasia 11
Rhomboid shaped head 20
Seizures 596
Severe mental retardation (I.Q. 20-34) 99
Skeletal muscle atrophy 139
Skeletal muscle hypertrophy 16
Small head 374
Speech Delay 112
Speech Disorders 58
Speech impairment 112
Spinal rigidity 13
Strabismus 270
Thick cerebral cortex 5
Uranostaphyloschisis 167
Variable expressivity 157
Visual Impairment 174
Walker-Warburg congenital muscular dystrophy 14
Weak cry 17
Wide skull shape 88
muscle degeneration 139
Disease Target Count P-value
Pick disease 1894 2.2e-05
ovarian cancer 8520 9.1e-04
progressive supranuclear palsy 676 1.9e-02
Disease Target Count Z-score Confidence
Carcinoma 11493 0.0 0.7
Disease Target Count Z-score Confidence
Werdnig-Hoffmann disease 4 3.359 1.7
Muscular atrophy 71 3.086 1.5

Expression

  Differential Expression (3)

Disease log2 FC p
ovarian cancer 1.100 9.1e-04
Pick disease -1.300 2.2e-05
progressive supranuclear palsy -1.100 1.9e-02

 GO Function (1)

Gene RIF (21)

AA Sequence

MSRINKNVVLALLTLTSSAFLLFQLYYYKHYLSTKNGAGLSKSKGSRIGFDSTQWRAVKKFIMLTSNQNV      1 - 70
PVFLIDPLILELINKNFEQVKNTSHGSTSQCKFFCVPRDFTAFALQYHLWKNEEGWFRIAENMGFQCLKI     71 - 140
ESKDPRLDGIDSLSGTEIPLHYICKLATHAIHLVVFHERSGNYLWHGHLRLKEHIDRKFVPFRKLQFGRY    141 - 210
PGAFDRPELQQVTVDGLEVLIPKDPMHFVEEVPHSRFIECRYKEARAFFQQYLDDNTVEAVAFRKSAKEL    211 - 280
LQLAAKTLNKLGVPFWLSSGTCLGWYRQCNIIPYSKDVDLGIFIQDYKSDIILAFQDAGLPLKHKFGKVE    281 - 350
DSLELSFQGKDDVKLDVFFFYEETDHMWNGGTQAKTGKKFKYLFPKFTLCWTEFVDMKVHVPCETLEYIE    351 - 420
ANYGKTWKIPVKTWDWKRSPPNVQPNGIWPISEWDEVIQLY                                 421 - 461
//

Text Mined References (48)

PMID Year Title