Property Summary

NCBI Gene PubMed Count 154
PubMed Score 252.71
PubTator Score 418.29

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (5)

Disease Target Count
diabetes mellitus 1728
Hyperglycemia 137
Abnormality of the immune system 18
Anteverted nostril 191
Arthrogryposis 54
Autosomal recessive predisposition 1442
Axial hypotonia 46
Beta-cell dysfunction 5
Bilateral ptosis 9
Blepharoptosis 231
Cognitive delay 608
Congenital Heart Defects 58
Congenital clinodactyly 57
Congenital ear anomaly NOS (disorder) 29
Congenital heart disease 93
Congenital hypoplasia of pancreas 2
Contracture of lower limb 6
Curvature of digit 57
Dehydration 40
Diabetes Mellitus, Non-Insulin-Dependent 145
Downturned corners of mouth 48
Epilepsies, Myoclonic 32
Epilepsy 792
Exocrine pancreatic insufficiency 32
Failure to gain weight 365
Fetal Growth Retardation 189
Generalized myoclonic seizures 30
Global developmental delay 608
Glycosuria 29
High urine albumin levels 5
Hypovolemia 8
Hypsarrhythmia 25
Infant, Small for Gestational Age 176
Intrauterine retardation 176
Ketoacidosis 11
Ketonuria 8
Limb contractures 6
Long philtrum 137
Low Birth Weights 69
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE IV (disorder) 1
Maturity onset diabetes mellitus in young 11
Mental and motor retardation 608
Microalbuminuria 5
Motor delay 147
Muscle Weakness 170
Myoclonic Epilepsies, Progressive 44
Neonatal insulin-dependent diabetes mellitus 6
Neuropathy 261
No development of motor milestones 147
Pancreatic Insufficiency 13
Pancreatic Neoplasm 85
Pediatric failure to thrive 365
Peripheral Neuropathy 134
Prominent metopic ridge 15
Radially deviated fingers 38
Reduced pancreatic beta cells 6
Retinal Diseases 55
Seizures 596
Short nose 132
Small for gestational age (disorder) 69
Small nose 132
Tonic - clonic seizures 44
Weight decreased 103
Disease Target Count Z-score Confidence
Acquired metabolic disease 336 0.0 3.0
Disease Target Count Z-score Confidence
Pancreatic agenesis 17 5.836 2.9
Insulinoma 24 3.65 1.8
Fibrosarcoma 14 3.47 1.7

Gene RIF (131)

AA Sequence

MNGEEQYYAATQLYKDPCAFQRGPAPEFSASPPACLYMGRQPPPPPPHPFPGALGALEQGSPPDISPYEV      1 - 70
PPLADDPAVAHLHHHLPAQLALPHPPAGPFPEGAEPGVLEEPNRVQLPFPWMKSTKAHAWKGQWAGGAYA     71 - 140
AEPEENKRTRTAYTRAQLLELEKEFLFNKYISRPRRVELAVMLNLTERHIKIWFQNRRMKWKKEEDKKRG    141 - 210
GGTAVGGGGVAEPEQDCAVTSGEELLALPPPPPPGGAVPPAAPVAAREGRLPPGLSASPQPSSVAPRRPQ    211 - 280
EPR                                                                       281 - 283
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Text Mined References (155)

PMID Year Title