Property Summary

NCBI Gene PubMed Count 21
PubMed Score 16.04
PubTator Score 6.54

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (6)

Disease Target Count
Muscular dystrophy 75
Abnormality of the voice 46
Absent speech 43
Autosomal recessive predisposition 1442
Cataract 297
Cerebellar Ataxia 304
Cerebellar Hypoplasia 61
Cleft Palate 271
Cognitive delay 608
Congenital muscular dystrophy (disorder) 14
Creatine phosphokinase serum increased 110
Dull intelligence 645
Electroencephalogram abnormal 101
Electromyogram abnormal 49
Elevated creatine kinase 110
Epilepsy 792
Feeding difficulties 127
Gait abnormality 135
Glaucoma 239
Global developmental delay 608
Highly variable clinical phenotype 150
Highly variable phenotype and severity 150
Highly variable phenotype, even within families 150
Highly variable severity 157
Hydrocephalus 152
Impaired cognition 96
Impaired exercise tolerance 42
Intellectual disability 1016
Lens Opacities 231
Low Vision 174
Low intelligence 645
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, 2 7
Maternal oligohydramnios 31
Mental Retardation 645
Mental and motor retardation 608
Mental deficiency 645
Mental impairment 95
Muscle Hypertonia 88
Muscle Weakness 170
Muscle biopsy shows dystrophic changes 39
Muscle eye brain disease 8
Muscle hypotonia 571
Muscular Dystrophy, Congenital, Type 1D 5
Myopathic facies 13
Myopathy 185
Myopia 176
Oligohydramnios 52
Optic Atrophy 242
Phenotypic variability 150
Pontine hypoplasia 7
Poor head control 14
Poor school performance 645
Prenatal onset 139
Proximal muscle weakness 47
Proximal neurogenic muscle weakness 47
Reduced fetal movement 51
Seizures 596
Sensorineural Hearing Loss (disorder) 284
Severe mental retardation (I.Q. 20-34) 99
Small head 374
Speech Disorders 58
Strabismus 270
Uranostaphyloschisis 167
Variable expressivity 157
Visual Impairment 174
nonverbal 43
Disease Target Count P-value
osteosarcoma 7950 1.9e-06
pituitary cancer 1972 1.7e-04
pancreatic ductal adenocarcinoma liver metastasis 1962 7.4e-04
Disease Target Count Z-score Confidence
Granulomatous amebic encephalitis 8 3.8 1.9
Achalasia 13 3.067 1.5

Expression

  Differential Expression (3)

Disease log2 FC p
osteosarcoma -1.980 1.9e-06
pancreatic ductal adenocarcinoma liver m... -1.249 7.4e-04
pituitary cancer -1.200 1.7e-04

Protein-protein Interaction (5)

Gene RIF (8)

AA Sequence

MKALILVGGYGTRLRPLTLSTPKPLVDFCNKPILLHQVEALAAAGVDHVILAVSYMSQVLEKEMKAQEQR      1 - 70
LGIRISMSHEEEPLGTAGPLALARDLLSETADPFFVLNSDVICDFPFQAMVQFHRHHGQEGSILVTKVEE     71 - 140
PSKYGVVVCEADTGRIHRFVEKPQVFVSNKINAGMYILSPAVLQRIQLQPTSIEKEVFPIMAKEGQLYAM    141 - 210
ELQGFWMDIGQPKDFLTGMCLFLQSLRQKQPERLCSGPGIVGNVLVDPSARIGQNCSIGPNVSLGPGVVV    211 - 280
EDGVCIRRCTVLRDARIRSHSWLESCIVGWRCRVGQWVRMENVTVLGEDVIVNDELYLNGASVLPHKSIG    281 - 350
ESVPEPRIIM                                                                351 - 360
//

Text Mined References (26)

PMID Year Title