Property Summary

Ligand Count 22
NCBI Gene PubMed Count 217
PubMed Score 869.93
PubTator Score 565.03

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (8)

Disease Target Count
Hypoglycemia 152
diabetes mellitus 1728
Hyperglycemia 137
Epilepsy 792
Abnormality of fatty-acid metabolism 6
Abnormality of the immune system 18
Abnormality of the pancreatic islet cells 4
Anteverted nostril 191
Arthrogryposis 54
Autosomal recessive predisposition 1442
Axial hypotonia 46
Beta-cell dysfunction 5
Bilateral ptosis 9
Blepharoptosis 231
Cerebellar Ataxia 304
Cognitive delay 608
Comatose 56
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
DIABETES MELLITUS, TRANSIENT NEONATAL, 2 (disorder) 1
Dehydration 40
Diabetes Mellitus, Insulin-Dependent 48
Diabetes Mellitus, Non-Insulin-Dependent 145
Diabetes Mellitus, Transient Neonatal, 1 4
Diarrhea 253
Downturned corners of mouth 48
Drowsiness 7
Dull intelligence 645
Elevated heart rate 25
Epilepsies, Myoclonic 32
Failure to gain weight 365
Fatty acids abnormal 6
Fetal Growth Retardation 189
Generalized myoclonic seizures 30
Global developmental delay 608
Glycosuria 29
Hepatomegaly 285
High urine albumin levels 5
Hyperhidrosis disorder 81
Hyperinsulinaemic hypoglycaemia 16
Hyperinsulinemic hypoglycemia, familial, 1 1
Hyperreflexia 209
Hypoglycaemic seizure 10
Hypoglycemic coma 10
Hypoketotic hypoglycemia 11
Hypovolemia 8
Hypsarrhythmia 25
Increased HbA1c levels 2
Increased sweating 81
Infant, Small for Gestational Age 176
Insulin Resistance 72
Intellectual disability 1016
Intrauterine retardation 176
Irritation - emotion 68
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 645
Mental Retardation 645
Mental and motor retardation 608
Mental deficiency 645
Microalbuminuria 5
Mild global developmental delay 14
Motor delay 147
Muscle Spasticity 195
Muscle Weakness 170
Myoclonic Epilepsies, Progressive 44
Neonatal hypoglycemia 17
Neonatal insulin-dependent diabetes mellitus 6
Neuropathy 261
No development of motor milestones 147
Pallor 40
Pediatric failure to thrive 365
Peripheral Neuropathy 134
Poor school performance 645
Progressive neurologic deterioration 19
Prominent metopic ridge 15
Psychomotor retardation, mild 14
Radially deviated fingers 38
Reduced pancreatic beta cells 6
Retinal Diseases 55
Seizures 596
Short nose 132
Small for gestational age (disorder) 69
Small head 374
Small nose 132
Strabismus 270
Sweating 81
Tachycardia 43
Thiamine Deficiency 4
Tonic - clonic seizures 44
Vomiting 116
Weight decreased 103
Disease Target Count Z-score Confidence
Carcinoma 11493 0.0 1.0
Kidney cancer 2613 0.0 0.6
Disease Target Count Z-score Confidence
Hyperinsulinemic hypoglycemia 17 6.115 3.1

Expression

  Differential Expression (18)

Disease log2 FC p
adult high grade glioma -2.200 3.1e-06
Alzheimer's disease -1.200 1.9e-02
atypical teratoid / rhabdoid tumor -2.200 2.6e-06
Endometriosis -1.448 5.7e-03
ependymoma -2.100 7.4e-15
facioscapulohumeral dystrophy 1.400 1.3e-02
fibroadenoma 2.000 2.6e-03
gastric carcinoma -1.200 4.0e-02
glioblastoma -1.900 5.9e-09
lung carcinoma 3.400 5.6e-49
oligodendroglioma 1.900 4.4e-03
Pick disease -1.800 3.4e-06
pituitary cancer -1.900 1.4e-04
primary pancreatic ductal adenocarcinoma -1.019 1.6e-02
primitive neuroectodermal tumor -1.900 5.0e-04
psoriasis -1.500 1.4e-13
sonic hedgehog group medulloblastoma -1.500 2.3e-04
subependymal giant cell astrocytoma -2.669 6.1e-03

Gene RIF (189)

AA Sequence

MPLAFCGSENHSAAYRVDQGVLNNGCFVDALNVVPHVFLLFITFPILFIGWGSQSSKVHIHHSTWLHFPG      1 - 70
HNLRWILTFMLLFVLVCEIAEGILSDGVTESHHLHLYMPAGMAFMAAVTSVVYYHNIETSNFPKLLIALL     71 - 140
VYWTLAFITKTIKFVKFLDHAIGFSQLRFCLTGLLVILYGMLLLVEVNVIRVRRYIFFKTPREVKPPEDL    141 - 210
QDLGVRFLQPFVNLLSKGTYWWMNAFIKTAHKKPIDLRAIGKLPIAMRALTNYQRLCEAFDAQVRKDIQG    211 - 280
TQGARAIWQALSHAFGRRLVLSSTFRILADLLGFAGPLCIFGIVDHLGKENDVFQPKTQFLGVYFVSSQE    281 - 350
FLANAYVLAVLLFLALLLQRTFLQASYYVAIETGINLRGAIQTKIYNKIMHLSTSNLSMGEMTAGQICNL    351 - 420
VAIDTNQLMWFFFLCPNLWAMPVQIIVGVILLYYILGVSALIGAAVIILLAPVQYFVATKLSQAQRSTLE    421 - 490
YSNERLKQTNEMLRGIKLLKLYAWENIFRTRVETTRRKEMTSLRAFAIYTSISIFMNTAIPIAAVLITFV    491 - 560
GHVSFFKEADFSPSVAFASLSLFHILVTPLFLLSSVVRSTVKALVSVQKLSEFLSSAEIREEQCAPHEPT    561 - 630
PQGPASKYQAVPLRVVNRKRPAREDCRGLTGPLQSLVPSADGDADNCCVQIMGGYFTWTPDGIPTLSNIT    631 - 700
IRIPRGQLTMIVGQVGCGKSSLLLAALGEMQKVSGAVFWSSLPDSEIGEDPSPERETATDLDIRKRGPVA    701 - 770
YASQKPWLLNATVEENIIFESPFNKQRYKMVIEACSLQPDIDILPHGDQTQIGERGINLSGGQRQRISVA    771 - 840
RALYQHANVVFLDDPFSALDIHLSDHLMQAGILELLRDDKRTVVLVTHKLQYLPHADWIIAMKDGTIQRE    841 - 910
GTLKDFQRSECQLFEHWKTLMNRQDQELEKETVTERKATEPPQGLSRAMSSRDGLLQDEEEEEEEAAESE    911 - 980
EDDNLSSMLHQRAEIPWRACAKYLSSAGILLLSLLVFSQLLKHMVLVAIDYWLAKWTDSALTLTPAARNC    981 - 1050
SLSQECTLDQTVYAMVFTVLCSLGIVLCLVTSVTVEWTGLKVAKRLHRSLLNRIILAPMRFFETTPLGSI   1051 - 1120
LNRFSSDCNTIDQHIPSTLECLSRSTLLCVSALAVISYVTPVFLVALLPLAIVCYFIQKYFRVASRDLQQ   1121 - 1190
LDDTTQLPLLSHFAETVEGLTTIRAFRYEARFQQKLLEYTDSNNIASLFLTAANRWLEVRMEYIGACVVL   1191 - 1260
IAAVTSISNSLHRELSAGLVGLGLTYALMVSNYLNWMVRNLADMELQLGAVKRIHGLLKTEAESYEGLLA   1261 - 1330
PSLIPKNWPDQGKIQIQNLSVRYDSSLKPVLKHVNALIAPGQKIGICGRTGSGKSSFSLAFFRMVDTFEG   1331 - 1400
HIIIDGIDIAKLPLHTLRSRLSIILQDPVLFSGTIRFNLDPERKCSDSTLWEALEIAQLKLVVKALPGGL   1401 - 1470
DAIITEGGENFSQGQRQLFCLARAFVRKTSIFIMDEATASIDMATENILQKVVMTAFADRTVVTIAHRVH   1471 - 1540
TILSADLVIVLKRGAILEFDKPEKLLSRKDSVFASFVRADK                                1541 - 1581
//

Text Mined References (217)

PMID Year Title