Property Summary

NCBI Gene PubMed Count 349
PubMed Score 1853.61
PubTator Score 774.13

Knowledge Summary

Patent (24,095)

TINX Plot

  Disease (8)

Disease Target Count
diabetes mellitus 1683
Hypoglycemia 146
Epilepsy 775
Hyperglycemia 134
Abnormality of fatty-acid metabolism 6
Abnormality of the immune system 18
Abnormality of the pancreatic islet cells 4
Anteverted nostril 186
Arthrogryposis 52
Autosomal recessive predisposition 1407
Axial hypotonia 46
Beta-cell dysfunction 5
Bilateral ptosis 9
Blepharoptosis 229
Cognitive delay 596
Comatose 55
Congenital Heart Defects 57
Congenital clinodactyly 57
Congenital ear anomaly NOS (disorder) 28
Congenital heart disease 91
Contracture of lower limb 6
Curvature of digit 57
DIABETES MELLITUS, TRANSIENT NEONATAL, 3 (disorder) 1
Dehydration 39
Diabetes Mellitus, Insulin-Dependent 48
Diabetes Mellitus, Non-Insulin-Dependent 140
Diabetes Mellitus, Transient Neonatal, 1 4
Diarrhea 245
Downturned corners of mouth 47
Dull intelligence 634
Elevated heart rate 25
Epilepsies, Myoclonic 30
Failure to gain weight 359
Fatty acids abnormal 6
Fetal Growth Retardation 186
Generalized myoclonic seizures 28
Gestational diabetes 26
Global developmental delay 596
Glycosuria 29
Hepatomegaly 280
High urine albumin levels 5
Hyperhidrosis disorder 78
Hyperinsulinaemic hypoglycaemia 16
Hyperinsulinemic hypoglycemia, familial, 2 1
Hypoketotic hypoglycemia 11
Hypovolemia 8
Hypsarrhythmia 25
Increased HbA1c levels 2
Increased sweating 78
Infant, Small for Gestational Age 174
Intellectual disability 998
Intrauterine retardation 174
Islets of Langerhans hyperplasia 11
Ketoacidosis 11
Ketonuria 8
Large for gestational age 11
Lethargy 77
Limb contractures 6
Long philtrum 137
Low Birth Weights 69
Low intelligence 634
Maturity onset diabetes mellitus in young 11
Mental Retardation 634
Mental and motor retardation 596
Mental deficiency 634
Microalbuminuria 5
Mild global developmental delay 14
Motor delay 144
Muscle Weakness 168
Myoclonic Epilepsies, Progressive 42
Neonatal hypoglycemia 17
Neonatal insulin-dependent diabetes mellitus 6
Neuropathy 254
No development of motor milestones 144
Pallor 40
Pediatric failure to thrive 359
Peripheral Neuropathy 131
Poor school performance 634
Progressive neurologic deterioration 19
Prominent metopic ridge 15
Psychomotor retardation, mild 14
Radially deviated fingers 38
Reduced pancreatic beta cells 6
Retinal Diseases 54
Short nose 127
Small for gestational age (disorder) 69
Small head 366
Small nose 127
Sweating 78
Tachycardia 42
Thiamine Deficiency 4
Tonic - clonic seizures 43
Vomiting 116
Weight decreased 101
maternal hyperglycemia 3
Disease Target Count Z-score Confidence
Carcinoma 11192 0.0 0.6
Disease Target Count Z-score Confidence
Type 2 diabetes mellitus 268 0.0 3.0
Disease Target Count Z-score Confidence
Hyperinsulinemic hypoglycemia 17 5.391 2.7

Expression

Protein-protein Interaction (2)

Gene RIF (344)

AA Sequence

MLSRKGIIPEEYVLTRLAEDPAEPRYRARQRRARFVSKKGNCNVAHKNIREQGRFLQDVFTTLVDLKWPH      1 - 70
TLLIFTMSFLCSWLLFAMAWWLIAFAHGDLAPSEGTAEPCVTSIHSFSSAFLFSIEVQVTIGFGGRMVTE     71 - 140
ECPLAILILIVQNIVGLMINAIMLGCIFMKTAQAHRRAETLIFSKHAVIALRHGRLCFMLRVGDLRKSMI    141 - 210
ISATIHMQVVRKTTSPEGEVVPLHQVDIPMENGVGGNSIFLVAPLIIYHVIDANSPLYDLAPSDLHHHQD    211 - 280
LEIIVILEGVVETTGITTQARTSYLADEILWGQRFVPIVAEEDGRYSVDYSKFGNTIKVPTPLCTARQLD    281 - 350
EDHSLLEALTLASARGPLRKRSVPMAKAKPKFSISPDSLS                                  351 - 390
//

Text Mined References (353)

PMID Year Title