Property Summary

NCBI Gene PubMed Count 58
PubMed Score 121.78
PubTator Score 116.01

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (5)

Disease Target Count
Intellectual disability 1016
Epilepsy 792
Abnormality of creatine metabolism 4
Abnormality of metabolism/homeostasis 134
Aggressive behavior 75
Aggressive reaction 75
Athetosis 16
Attention deficit hyperactivity disorder 278
Autism Spectrum Disorders 75
Autistic behavior 20
Blepharoptosis 231
Broad forehead 59
Cachexia 50
Cerebellar Ataxia 304
Chorea 29
Choreatic disease 52
Class III malocclusion 78
Cognitive delay 608
Congenital pes cavus 88
Constipation 181
Decreased projection of midface 105
Delayed myelination 22
Delayed speech and language development 112
Dull intelligence 645
Dyschezia 135
Dystonia 164
Dystonic disease 106
Exotropia 35
Failure to gain weight 365
Feeding difficulties in infancy 175
Gait abnormality 135
Global developmental delay 608
Hirschsprung Disease 31
Hyperactive behavior 91
Hyperopia 70
Hypertrophy of lower jaw 78
Hypoplasia of corpus callosum 90
Hypotrophic malar bone 129
Hypotrophic midface 105
Ileus 19
Increased size of mandible 78
Infantile onset 238
Language Delay 112
Long face 71
Low intelligence 645
Malar flattening 129
Mandibular hyperplasia 78
Megacolon 29
Mental Retardation 645
Mental and motor retardation 608
Mental deficiency 645
Midface retrusion 105
Motor delay 147
Muscle Hypertonia 88
Muscle Spasticity 195
Muscle hypotonia 571
Myopathic facies 13
Narrow face 54
Neonatal Hypotonia 64
No development of motor milestones 147
Open mouth 45
Pediatric failure to thrive 365
Physical aggression 76
Poor hand-eye coordination 1
Poor school performance 645
Range of joint movement increased 32
Seizures 596
Self Mutilation 14
Short stature 531
Small head 374
Small midface 105
Social Communication Disorder 4
Speech Delay 112
Speech impairment 112
Stereotyped Behavior 37
Stereotypic Movement Disorder 42
Tall stature 34
Thin face 54
Underfolded superior helices 2
Vomiting 116
X- linked recessive 110
mandibular excess (physical finding) 78
Disease Target Count
Creatine transporter deficiency 4

Expression

Gene RIF (42)

AA Sequence

MAKKSAENGIYSVSGDEKKGPLIAPGPDGAPAKGDGPVGLGTPGGRLAVPPRETWTRQMDFIMSCVGFAV      1 - 70
GLGNVWRFPYLCYKNGGGVFLIPYVLIALVGGIPIFFLEISLGQFMKAGSINVWNICPLFKGLGYASMVI     71 - 140
VFYCNTYYIMVLAWGFYYLVKSFTTTLPWATCGHTWNTPDCVEIFRHEDCANASLANLTCDQLADRRSPV    141 - 210
IEFWENKVLRLSGGLEVPGALNWEVTLCLLACWVLVYFCVWKGVKSTGKIVYFTATFPYVVLVVLLVRGV    211 - 280
LLPGALDGIIYYLKPDWSKLGSPQVWIDAGTQIFFSYAIGLGALTALGSYNRFNNNCYKDAIILALINSG    281 - 350
TSFFAGFVVFSILGFMAAEQGVHISKVAESGPGLAFIAYPRAVTLMPVAPLWAALFFFMLLLLGLDSQFV    351 - 420
GVEGFITGLLDLLPASYYFRFQREISVALCCALCFVIDLSMVTDGGMYVFQLFDYYSASGTTLLWQAFWE    421 - 490
CVVVAWVYGADRFMDDIACMIGYRPCPWMKWCWSFFTPLVCMGIFIFNVVYYEPLVYNNTYVYPWWGEAM    491 - 560
GWAFALSSMLCVPLHLLGCLLRAKGTMAERWQHLTQPIWGLHHLEYRAQDADVRGLTTLTPVSESSKVVV    561 - 630
VESVM                                                                     631 - 635
//

Text Mined References (66)

PMID Year Title