Property Summary

NCBI Gene PubMed Count 47
PubMed Score 31.46
PubTator Score 25.06

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (6)

Disease Target Count Z-score Confidence
Bardet-Biedl syndrome 1 22 0.0 0.0
Bardet-Biedl syndrome 4 1 0.0 0.0
Disease Target Count
Polydactyly 107
Retinal Degeneration 106
Obesity 678
Intellectual disability 1016
Aphakia, congenital primary 5
Asthma 385
Autosomal recessive predisposition 1442
BILIARY TRACT ABNORMALITY 16
Bardet-Biedl syndrome 4 (disorder) 1
Biliary Tract Diseases 16
Brachydactyly 156
Broad feet 19
Cerebellar Ataxia 304
Cognitive delay 608
Congenital hypoplasia of ovary 30
Congenital hypoplasia of penis 176
Cryptorchidism 296
Cystic kidney 30
Delayed speech and language development 112
Difficulties with night vision 87
Dull intelligence 645
Electroretinogram abnormal 95
Fibrosis, Liver 32
Gait imbalance 17
Global developmental delay 608
High, narrow palate 32
Hirsutism 47
Hypertensive disease 292
Hypodontia 81
Hypogonadism 173
Hypoplastic feet 66
Hypoplastic ovary 30
Inadequate arch length for tooth size 45
Increase in blood pressure 119
Language Delay 112
Left Ventricular Hypertrophy 47
Low intelligence 645
Mental Retardation 645
Mental and motor retardation 608
Mental deficiency 645
Multicystic Dysplastic Kidney 52
Nephrogenic Diabetes Insipidus 16
Night Blindness 101
Nystagmus 317
Polydactyly of toes 12
Poor coordination 11
Poor school performance 645
Radially deviated fingers 38
Reactive airway disease 21
Renal cyst 30
Retinitis Pigmentosa 226
Short stature 531
Small genitalia 13
Small testicle 75
Specific learning disability 47
Speech Delay 112
Speech Disorders 58
Speech impairment 112
Strabismus 270
Syndactyly 88
Tooth Crowding 45
Tooth mass arch size discrepancy 45
Tooth size discrepancy 45
Ulnar polydactyly of fingers 47
diabetes mellitus 1728
Disease Target Count P-value
lung carcinoma 2843 4.2e-19
ovarian cancer 8519 2.6e-09
ependymoma 4679 2.3e-06
malignant mesothelioma 3232 3.3e-05
psoriasis 6694 9.8e-04
group 3 medulloblastoma 4104 1.5e-03
chronic rhinosinusitis 512 2.5e-02
Disease Target Count Z-score Confidence
Carcinoma 11493 0.0 0.7
Disease Target Count
Bardet-Biedl syndrome 51

Expression

  Differential Expression (7)

Disease log2 FC p
chronic rhinosinusitis -1.019 2.5e-02
ependymoma 1.100 2.3e-06
group 3 medulloblastoma 1.300 1.5e-03
lung carcinoma 1.300 4.2e-19
malignant mesothelioma -1.100 3.3e-05
ovarian cancer -1.500 2.6e-09
psoriasis -1.200 9.8e-04

Gene RIF (16)

AA Sequence

MAEERVATRTQFPVSTESQKPRQKKAPEFPILEKQNWLIHLHYIRKDYEACKAVIKEQLQETQGLCEYAI      1 - 70
YVQALIFRLEGNIQESLELFQTCAVLSPQSADNLKQVARSLFLLGKHKAAIEVYNEAAKLNQKDWEISHN     71 - 140
LGVCYIYLKQFNKAQDQLHNALNLNRHDLTYIMLGKIHLLEGDLDKAIEVYKKAVEFSPENTELLTTLGL    141 - 210
LYLQLGIYQKAFEHLGNALTYDPTNYKAILAAGSMMQTHGDFDVALTKYRVVACAVPESPPLWNNIGMCF    211 - 280
FGKKKYVAAISCLKRANYLAPFDWKILYNLGLVHLTMQQYASAFHFLSAAINFQPKMGELYMLLAVALTN    281 - 350
LEDIENAKRAYAEAVHLDKCNPLVNLNYAVLLYNQGEKKNALAQYQEMEKKVSLLKDNSSLEFDSEMVEM    351 - 420
AQKLGAALQVGEALVWTKPVKDPKSKHQTTSTSKPASFQQPLGSNQALGQAMSSAAAYRTLPSGAGGTSQ    421 - 490
FTKPPSLPLEPEPAVESSPTETSEQIREK                                             491 - 519
//

Text Mined References (51)

PMID Year Title