Property Summary

Ligand Count 65
NCBI Gene PubMed Count 279
PubMed Score 758.62
PubTator Score 1037.16

Knowledge Summary

Patent (102,103)

TINX Plot

  Disease (8)

Disease Target Count
diabetes mellitus 1728
Abnormality of the immune system 18
Anteverted nostril 191
Arthrogryposis 54
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
Contracture of lower limb 6
Curvature of digit 57
Dehydration 40
Diabetes Mellitus, Non-Insulin-Dependent 145
Diabetes mellitus autosomal dominant type II (disorder) 1
Downturned corners of mouth 48
Dull intelligence 645
Epilepsies, Myoclonic 32
Epilepsy 792
Failure to gain weight 365
Fetal Growth Retardation 189
Generalized myoclonic seizures 30
Global developmental delay 608
Glycosuria 29
High urine albumin levels 5
Hyperinsulinaemic hypoglycaemia 16
Hypoglycaemic seizure 10
Hypoglycemic coma 10
Hypovolemia 8
Hypsarrhythmia 25
Infant, Small for Gestational Age 176
Insulin Resistance 72
Intellectual disability 1016
Intrauterine retardation 176
Ketoacidosis 11
Ketonuria 8
Limb contractures 6
Long philtrum 137
Low Birth Weights 69
Low intelligence 645
Maturity onset diabetes mellitus in young 11
Mental Retardation 645
Mental and motor retardation 608
Mental deficiency 645
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
Pediatric failure to thrive 365
Peripheral Neuropathy 134
Poor school performance 645
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 P-value
group 4 medulloblastoma 1855 4.3e-08
primitive neuroectodermal tumor 3035 1.8e-03
Disease Target Count Z-score Confidence
Carcinoma 11493 0.0 0.6
Disease Target Count Z-score Confidence
Hyperinsulinemic hypoglycemia 17 4.278 2.1
Gestational diabetes 26 0.0 5.0

Expression

  Differential Expression (2)

Disease log2 FC p
group 4 medulloblastoma -1.500 4.3e-08
primitive neuroectodermal tumor -1.300 1.8e-03

Protein-protein Interaction (1)

Gene RIF (253)

AA Sequence

MLDDRARMEAAKKEKVEQILAEFQLQEEDLKKVMRRMQKEMDRGLRLETHEEASVKMLPTYVRSTPEGSE      1 - 70
VGDFLSLDLGGTNFRVMLVKVGEGEEGQWSVKTKHQMYSIPEDAMTGTAEMLFDYISECISDFLDKHQMK     71 - 140
HKKLPLGFTFSFPVRHEDIDKGILLNWTKGFKASGAEGNNVVGLLRDAIKRRGDFEMDVVAMVNDTVATM    141 - 210
ISCYYEDHQCEVGMIVGTGCNACYMEEMQNVELVEGDEGRMCVNTEWGAFGDSGELDEFLLEYDRLVDES    211 - 280
SANPGQQLYEKLIGGKYMGELVRLVLLRLVDENLLFHGEASEQLRTRGAFETRFVSQVESDTGDRKQIYN    281 - 350
ILSTLGLRPSTTDCDIVRRACESVSTRAAHMCSAGLAGVINRMRESRSEDVMRITVGVDGSVYKLHPSFK    351 - 420
ERFHASVRRLTPSCEITFIESEEGSGRGAALVSAVACKKACMLGQ                             421 - 465
//

Text Mined References (285)

PMID Year Title