Property Summary

NCBI Gene PubMed Count 28
PubMed Score 31.55
PubTator Score 33.08

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (6)

Disease Target Count
Muscular dystrophy 75
Hydrocephalus 152
Intellectual disability 1016
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
Atresia of the external auditory canal 23
Atretic auditory canal 23
Atrophic retina 7
Autosomal recessive predisposition 1442
Bell Palsy 58
Blind Vision 111
Blindness, Legal 110
Cataract 297
Cerebellar Hypoplasia 61
Cerebellar cyst 5
Cerebellar dysplasia 8
Cerebral atrophy 178
Cleft Lip 141
Cleft Palate 271
Clouding of corneal stroma 50
Cobblestone Lissencephaly 8
Cognitive delay 608
Congenital hypoplasia of penis 176
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
Cryptorchidism 296
Curvature of spine 282
Dandy-Walker Syndrome 39
Decreased size of eyeball 97
Decreased tendon reflex 122
Dilated ventricles (finding) 121
Dull intelligence 645
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 contractures of joints 93
Gait abnormality 135
Generalized muscle weakness 57
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
Highly variable severity 157
Hydrophthalmos 19
Hyperopia 70
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
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, 2 1
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1 7
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14 7
Macroglossia 65
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
Myopathy 185
Myopia 176
No development of motor milestones 147
Occipital Encephalocele 10
Open mouth 45
Optic Atrophy 242
Pachygyria 41
Phenotypic variability 150
Polymicrogyria 48
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
Respiratory Insufficiency 132
Respiratory function loss 121
Retinal Degeneration 106
Retinal Detachment 51
Retinal Dysplasia 11
Seizures 596
Severe mental retardation (I.Q. 20-34) 99
Skeletal muscle hypertrophy 16
Small head 374
Speech Disorders 58
Spinal rigidity 13
Strabismus 270
Thick cerebral cortex 5
Uranostaphyloschisis 167
Variable expressivity 157
Visual Impairment 174
Walker-Warburg congenital muscular dystrophy 14
Disease Target Count Z-score Confidence
Carcinoma 11493 0.0 0.6
Disease Target Count Z-score Confidence
Carpenter syndrome 10 3.403 1.7

Expression

Protein-protein Interaction (1)

Gene RIF (19)

AA Sequence

MPPATGGGLAESELRPRRGRCGPQAARAAGRDVAAEAVARSPKRPAWGSRRFEAVGWWALLALVTLLSFA      1 - 70
TRFHRLDEPPHICWDETHFGKMGSYYINRTFFFDVHPPLGKMLIGLAGYLSGYDGTFLFQKPGDKYEHHS     71 - 140
YMGMRGFCAFLGSWLVPFAYLTVLDLSKSLSAALLTAALLTFDTGCLTLSQYILLDPILMFFIMAAMLSM    141 - 210
VKYNSCADRPFSAPWWFWLSLTGVSLAGALGVKFVGLFIILQVGLNTIADLWYLFGDLSLSLVTVGKHLT    211 - 280
ARVLCLIVLPLALYTATFAVHFMVLSKSGPGDGFFSSAFQARLSGNNLHNASIPEHLAYGSVITVKNLRM    281 - 350
AIGYLHSHRHLYPEGIGARQQQVTTYLHKDYNNLWIIKKHNTNSDPLDPSFPVEFVRHGDIIRLEHKETS    351 - 420
RNLHSHYHEAPMTRKHYQVTGYGINGTGDSNDFWRIEVVNRKFGNRIKVLRSRIRFIHLVTGCVLGSSGK    421 - 490
VLPKWGWEQLEVTCTPYLKETLNSIWNVEDHINPKLPNISLDVLQPSFPEILLESHMVMIRGNSGLKPKD    491 - 560
NEFTSKPWHWPINYQGLRFSGVNDTDFRVYLLGNPVVWWLNLLSIALYLLSGSIIAVAMQRGARLPAEVA    561 - 630
GLSQVLLRGGGQVLLGWTLHYFPFFLMGRVLYFHHYFPAMLFSSMLTGILWDTLLRLCAWGLASWPLARG    631 - 700
IHVAGILSLLLGTAYSFYLFHPLAYGMVGPLAQDPQSPMAGLRWLDSWDF                        701 - 750
//

Text Mined References (30)

PMID Year Title