Property Summary

NCBI Gene PubMed Count 82
PubMed Score 172.16
PubTator Score 162.62

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (7)

Disease Target Count Z-score Confidence
Oculocerebrorenal syndrome 29 8.661 4.0
Dent Disease 2 1 0.0 0.0
Disease Target Count
Intellectual disability 1016
Cataract 297
Rickets 49
Glaucoma 239
Abnormal urinary amino-acid findings 38
Abnormality of calcium-phosphate metabolism 4
Abnormality of the renal tubule 7
Abnormality of the voice 46
Abnormally small eyeball 97
Absent reflex 92
Absent tendon reflex 92
Acquired scoliosis 281
Adult Fanconi syndrome 12
Aggressive behavior 75
Aggressive reaction 75
Amblyopia 38
Aminoaciduria 38
Anxiety 136
Anxiety disease 113
Arthritis 290
Attention deficit hyperactivity disorder 278
Benign neoplasm of central nervous system 2
Bicarbonaturia 2
Childhood onset 38
Chronic Kidney Diseases 13
Chubby cheeks 50
Clonus 18
Cognitive delay 608
Congenital Bilateral Cataracts 50
Congenital cataract 50
Constipation 181
Creatine phosphokinase serum increased 110
Cryptorchidism 296
Curvature of spine 282
Decreased platelet count 111
Decreased size of eyeball 97
Defective enamel matrix 35
Dehydration 40
Dense posterior cortical cataract 1
Dent disease 1 2
Dental Enamel Hypoplasia 43
Depressive disorder 409
Dilated ventricles (finding) 121
Dull intelligence 645
Dyschezia 135
Dysphasia 23
Dysplasia of tooth enamel 35
Electroencephalogram abnormal 101
Elevated amniotic fluid alpha-fetoprotein 3
Elevated creatine kinase 110
Elevated maternal serum alpha-fetoprotein 4
Elevated serum acid phosphatase 4
Enophthalmos 75
Epilepsy 792
Failure to gain weight 365
Feeding difficulties in infancy 175
Fine hair 42
Flexion contracture of proximal interphalangeal joint 75
Frequent fractures 53
Frontal bossing 157
Full cheeks 50
Generalized hypopigmentation 12
Global developmental delay 608
Globe of eye large 20
Hydrophthalmos 19
Hypercalciuria 27
Hypercholesterolemia 44
Hyperkyphosis 111
Hyperparathyroidism 48
Hyperphosphaturia 21
Hyperplasia of cheeks 50
Hypertrophy of cheeks 50
Hypokalemia 52
Hyponatremia 25
Impaired cognition 96
Increased fracture rate 53
Joint hyperflexibility 78
Joint swelling 26
Kidney Failure 111
Knee joint valgus deformity 56
Kyphosis deformity of spine 114
Lens Opacities 231
Long face 71
Low Vision 174
Low intelligence 645
Low-molecular-weight proteinuria 3
Low-set, posteriorly rotated ears 110
Malignant neoplasm of skin 15
Mental Retardation 645
Mental and motor retardation 608
Mental deficiency 645
Mental impairment 95
Microphthalmos 100
Multiple, subcutaneous nodules 53
Neonatal Hypotonia 64
Nystagmus 317
Obsessive compulsive behavior 25
Osteomalacia 35
Pathological fracture 20
Pediatric failure to thrive 365
Periventricular cysts 7
Physical aggression 76
Platyspondyly 56
Poor school performance 645
Progressive renal failure 13
Prominent ear 56
Proteinuria 144
Protruding ears 56
Proximal tubulopathy 9
Puffy cheeks 50
Pupillary abnormality 4
Range of joint movement increased 32
Reduced visual acuity 63
Reflex, Deep Tendon, Absent 92
Renal Insufficiency 90
Renal Tubular Acidosis, Type II 4
Renal failure in adulthood 76
Renal glomerular disease 12
Seizures 596
Self-Injurious Behavior 12
Serum cholesterol raised 22
Short stature 531
Skin Neoplasms 69
Sparse scalp hair 42
Stereotyped Behavior 37
Stereotypic Movement Disorder 42
Subcutaneous nodule 53
Sunken eyes 63
Thin dental enamel 35
Thrombocytopenia 197
Urine phosphorous concentration above normal 21
Varying degree of multiple fractures 53
Visual Impairment 174
Vitamin D Deficiency 3
Wrist swelling 2
X- linked recessive 110
obsessive-compulsive disorder 61
Disease Target Count P-value
lung carcinoma 2843 6.9e-34
osteosarcoma 7950 3.9e-05
lung cancer 4740 8.3e-03
Disease Target Count Z-score Confidence
Carcinoma 11493 0.0 0.9
Kidney cancer 2613 0.0 0.5
Disease Target Count Z-score Confidence
Dent disease 18 0.0 5.0
Disease Target Count Z-score Confidence
Calcinosis 70 4.857 2.4
Kidney disease 430 4.414 2.2
Ciliopathy 71 3.019 1.5

Expression

  Differential Expression (3)

Disease log2 FC p
lung cancer 1.100 8.3e-03
lung carcinoma 1.300 6.9e-34
osteosarcoma 1.485 3.9e-05

Protein-protein Interaction (6)

Gene RIF (55)

AA Sequence

MEPPLPVGAQPLATVEGMEMKGPLREPCALTLAQRNGQYELIIQLHEKEQHVQDIIPINSHFRCVQEAEE      1 - 70
TLLIDIASNSGCKIRVQGDWIRERRFEIPDEEHCLKFLSAVLAAQKAQSQLLVPEQKDSSSWYQKLDTKD     71 - 140
KPSVFSGLLGFEDNFSSMNLDKKINSQNQPTGIHREPPPPPFSVNKMLPREKEASNKEQPKVTNTMRKLF    141 - 210
VPNTQSGQREGLIKHILAKREKEYVNIQTFRFFVGTWNVNGQSPDSGLEPWLNCDPNPPDIYCIGFQELD    211 - 280
LSTEAFFYFESVKEQEWSMAVERGLHSKAKYKKVQLVRLVGMMLLIFARKDQCRYIRDIATETVGTGIMG    281 - 350
KMGNKGGVAVRFVFHNTTFCIVNSHLAAHVEDFERRNQDYKDICARMSFVVPNQTLPQLNIMKHEVVIWL    351 - 420
GDLNYRLCMPDANEVKSLINKKDLQRLLKFDQLNIQRTQKKAFVDFNEGEIKFIPTYKYDSKTDRWDSSG    421 - 490
KCRVPAWCDRILWRGTNVNQLNYRSHMELKTSDHKPVSALFHIGVKVVDERRYRKVFEDSVRIMDRMEND    491 - 560
FLPSLELSRREFVFENVKFRQLQKEKFQISNNGQVPCHFSFIPKLNDSQYCKPWLRAEPFEGYLEPNETV    561 - 630
DISLDVYVSKDSVTILNSGEDKIEDILVLHLDRGKDYFLTISGNYLPSCFGTSLEALCRMKRPIREVPVT    631 - 700
KLIDLEEDSFLEKEKSLLQMVPLDEGASERPLQVPKEIWLLVDHLFKYACHQEDLFQTPGMQEELQQIID    701 - 770
CLDTSIPETIPGSNHSVAEALLIFLEALPEPVICYELYQRCLDSAYDPRICRQVISQLPRCHRNVFRYLM    771 - 840
AFLRELLKFSEYNSVNANMIATLFTSLLLRPPPNLMARQTPSDRQRAIQFLLGFLLGSEED             841 - 901
//

Text Mined References (85)

PMID Year Title