Property Summary

NCBI Gene PubMed Count 35
PubMed Score 14.29
PubTator Score 9.42

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (8)

Disease Target Count
Nephronophthisis 80
Retinal Degeneration 106
Abnormality of retinal pigmentation 111
Aphakia, congenital primary 5
Asthma 385
Autosomal recessive predisposition 1442
BILIARY TRACT ABNORMALITY 16
Biliary Tract Diseases 16
Brachydactyly 156
Broad feet 19
Bronchiolitis 18
Cerebellar Ataxia 304
Chronic kidney disease stage 5 31
Cognitive delay 608
Congenital absence of kidney 31
Congenital hypoplasia of ovary 30
Congenital hypoplasia of penis 176
Cystic Kidney Diseases 6
Cystic kidney 30
Decreased visual acuity, progressive 36
Delayed speech and language development 112
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
Impaired cognition 96
Inadequate arch length for tooth size 45
Increase in blood pressure 119
Intellectual disability 1016
Kidney Failure 111
Language Delay 112
Left Ventricular Hypertrophy 47
Low Vision 174
Low intelligence 645
Mental Retardation 645
Mental and motor retardation 608
Mental deficiency 645
Mental impairment 95
Multicystic Dysplastic Kidney 52
Nephrogenic Diabetes Insipidus 16
Nystagmus 317
Obesity 678
Polydactyly of toes 12
Poor coordination 11
Poor school performance 645
Premature Menopause 31
Progressive visual loss 36
RENAL ADYSPLASIA 25
Radially deviated fingers 38
Reactive airway disease 21
Recurrent otitis media 42
Recurrent respiratory infections 141
Renal Insufficiency 90
Renal cyst 30
Renal dysplasia 28
Renal dysplasia and retinal aplasia (disorder) 10
Renal failure in adulthood 76
Respiratory distress 43
Retinal Dystrophies 33
Retinal pigment epithelial abnormality 111
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
Visual Impairment 174
diabetes mellitus 1728
Disease Target Count P-value
tuberculosis 2010 7.0e-07
osteosarcoma 7950 1.5e-06
ovarian cancer 8520 3.7e-05
atypical teratoid / rhabdoid tumor 5112 1.3e-04
group 3 medulloblastoma 4104 3.8e-03
Disease Target Count Z-score Confidence
Carcinoma 11493 0.0 0.5
Disease Target Count Z-score Confidence
Schizophrenia 1160 0.0 3.0
Disease Target Count Z-score Confidence
Leber congenital amaurosis 69 0.0 4.0
Disease Target Count Z-score Confidence
Ciliopathy 71 4.58 2.3
Polydactyly 107 3.948 2.0

Expression

  Differential Expression (5)

Disease log2 FC p
atypical teratoid / rhabdoid tumor -1.200 1.3e-04
group 3 medulloblastoma 2.300 3.8e-03
osteosarcoma -1.590 1.5e-06
ovarian cancer 1.200 3.7e-05
tuberculosis 1.200 7.0e-07

Gene RIF (12)

AA Sequence

MAKSPENSTLEEILGQYQRSLREHASRSIHQLTCALKEGDVTIGEDAPNLSFSTSVGNEDARTAWPELQQ      1 - 70
SHAVNQLKDLLRQQADKESEVSPSRRRKMSPLRSLEHEETNMPTMHDLVHTINDQSQYIHHLEAEVKFCK     71 - 140
EELSGMKNKIQVVVLENEGLQQQLKSQRQEETLREQTLLDASGNMHNSWITTGEDSGVGETSKRPFSHDN    141 - 210
ADFGKAASAGEQLELEKLKLTYEEKCEIEESQLKFLRNDLAEYQRTCEDLKEQLKHKEFLLAANTCNRVG    211 - 280
GLCLKCAQHEAVLSQTHTNVHMQTIERLVKERDDLMSALVSVRSSLADTQQREASAYEQVKQVLQISEEA    281 - 350
NFEKTKALIQCDQLRKELERQAERLEKELASQQEKRAIEKDMMKKEITKEREYMGSKMLILSQNIAQLEA    351 - 420
QVEKVTKEKISAINQLEEIQSQLASREMDVTKVCGEMRYQLNKTNMEKDEAEKEHREFRAKTNRDLEIKD    421 - 490
QEIEKLRIELDESKQHLEQEQQKAALAREECLRLTELLGESEHQLHLTRQEKDSIQQSFSKEAKAQALQA    491 - 560
QQREQELTQKIQQMEAQHDKTENEQYLLLTSQNTFLTKLKEECCTLAKKLEQISQKTRSEIAQLSQEKRY    561 - 630
TYDKLGKLQRRNEELEEQCVQHGRVHETMKQRLRQLDKHSQATAQQLVQLLSKQNQLLLERQSLSEEVDR    631 - 700
LRTQLPSMPQSDC                                                             701 - 713
//

Text Mined References (34)

PMID Year Title