Property Summary

NCBI Gene PubMed Count 169
PubMed Score 260.23
PubTator Score 243.32

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (8)

Disease Target Count
Optic Atrophy 242
Diabetes insipidus 18
diabetes mellitus 1728
Abnormal behavior 52
Abnormality of the mesentery 1
Abnormality of the upper urinary tract 1
Anemia, Megaloblastic 16
Anxiety 136
Anxiety disease 113
Atrophy of testis 14
Auricular malformation 41
Autism Spectrum Disorders 75
Autistic behavior 20
Autosomal recessive predisposition 1442
Axonal neuropathy 27
Bipolar Disorder 666
Blepharoptosis 231
Cardiomyopathies 110
Central Diabetes Insipidus 5
Cerebellar Ataxia 304
Cerebral atrophy 178
Congenital Bilateral Cataracts 50
Congenital cataract 50
Congenital deafness 185
Congenital sensorineural hearing loss 12
Deafness 198
Decreased platelet count 111
Degenerative brain disorder 100
Deglutition Disorders 132
Delayed Puberty 97
Dementia 175
Depression, Bipolar 12
Depressive disorder 409
Diabetes Mellitus, Non-Insulin-Dependent 145
Dilatation of ureter 15
Dull intelligence 645
Dysarthria 192
Dysuria 26
Epilepsy 792
Feeding difficulties in infancy 175
Gastrointestinal dysmotility 5
Glaucoma 239
Growth delay 114
Growth failure 114
Growth retardation 115
Hearing Loss, Partial 185
Hearing loss, progressive sensorineural 23
Hearing loss, sensorineural, low-frequency 1
Hydronephrosis 89
Hypothyroidism 122
Impaired glucose tolerance 28
Intellectual disability 1016
Kidney Diseases 114
Kidney damage 25
Limited mobility of proximal interphalangeal joint 1
Low intelligence 645
Mental Depression 333
Mental Retardation 645
Mental deficiency 645
Mood Disorders 184
Neurogenic Urinary Bladder 6
Nuclear cataract 19
Nuclear non-senile cataract 18
Nystagmus 317
Peripheral axonal neuropathy 18
Polydipsia 15
Poor growth 114
Poor school performance 645
Primary gonadal insufficiency 9
Progressive cerebellar ataxia 13
Psychotic Disorders 151
Recurrent urinary tract infection 24
Retinitis Pigmentosa 226
Seizures 596
Sensorineural Hearing Loss (disorder) 284
Sideroblastic anemia 20
Simple ear 41
Stroke-like episodes 10
Supratentorial atrophy 94
Testicular hypogonadism 21
Thrombocytopenia 197
Tremor 113
Uroureter 15
Very poor growth 114
hearing impairment 199
Disease Target Count Z-score Confidence
Carcinoma 11493 0.0 0.6
Disease Target Count Z-score Confidence
Type 2 diabetes mellitus 272 0.0 3.0
Disease Target Count Z-score Confidence
Nonsyndromic deafness 142 4.737 2.4
Cataract 297 0.0 4.0

Expression

  Differential Expression (15)

Disease log2 FC p
adult high grade glioma -1.100 4.0e-05
aldosterone-producing adenoma 1.299 1.4e-02
astrocytoma 1.800 1.8e-02
Astrocytoma, Pilocytic -1.100 1.2e-07
atypical teratoid / rhabdoid tumor -1.100 1.6e-05
group 3 medulloblastoma -1.700 9.2e-07
intraductal papillary-mucinous neoplasm ... 1.600 1.3e-02
lung adenocarcinoma -1.100 2.3e-14
lung cancer -1.300 3.6e-04
medulloblastoma, large-cell -1.600 6.0e-04
non-small cell lung cancer -1.206 1.8e-11
osteosarcoma -2.452 1.1e-04
posterior fossa group B ependymoma 1.100 2.1e-06
primitive neuroectodermal tumor -1.100 1.3e-02
psoriasis -2.400 1.7e-05

Gene RIF (155)

AA Sequence

MDSNTAPLGPSCPQPPPAPQPQARSRLNATASLEQERSERPRAPGPQAGPGPGVRDAAAPAEPQAQHTRS      1 - 70
RERADGTGPTKGDMEIPFEEVLERAKAGDPKAQTEVGKHYLQLAGDTDEELNSCTAVDWLVLAAKQGRRE     71 - 140
AVKLLRRCLADRRGITSENEREVRQLSSETDLERAVRKAALVMYWKLNPKKKKQVAVAELLENVGQVNEH    141 - 210
DGGAQPGPVPKSLQKQRRMLERLVSSESKNYIALDDFVEITKKYAKGVIPSSLFLQDDEDDDELAGKSPE    211 - 280
DLPLRLKVVKYPLHAIMEIKEYLIDMASRAGMHWLSTIIPTHHINALIFFFIVSNLTIDFFAFFIPLVIF    281 - 350
YLSFISMVICTLKVFQDSKAWENFRTLTDLLLRFEPNLDVEQAEVNFGWNHLEPYAHFLLSVFFVIFSFP    351 - 420
IASKDCIPCSELAVITGFFTVTSYLSLSTHAEPYTRRALATEVTAGLLSLLPSMPLNWPYLKVLGQTFIT    421 - 490
VPVGHLVVLNVSVPCLLYVYLLYLFFRMAQLRNFKGTYCYLVPYLVCFMWCELSVVILLESTGLGLLRAS    491 - 560
IGYFLFLFALPILVAGLALVGVLQFARWFTSLELTKIAVTVAVCSVPLLLRWWTKASFSVVGMVKSLTRS    561 - 630
SMVKLILVWLTAIVLFCWFYVYRSEGMKVYNSTLTWQQYGALCGPRAWKETNMARTQILCSHLEGHRVTW    631 - 700
TGRFKYVRVTDIDNSAESAINMLPFFIGDWMRCLYGEAYPACSPGNTSTAEEELCRLKLLAKHPCHIKKF    701 - 770
DRYKFEITVGMPFSSGADGSRSREEDDVTKDIVLRASSEFKSVLLSLRQGSLIEFSTILEGRLGSKWPVF    771 - 840
ELKAISCLNCMAQLSPTRRHVKIEHDWRSTVHGAVKFAFDFFFFPFLSAA                        841 - 890
//

Text Mined References (179)

PMID Year Title