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 998
Cataract 290
Rickets 46
Glaucoma 232
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 94
Absent reflex 90
Absent tendon reflex 90
Acquired scoliosis 274
Adult Fanconi syndrome 12
Aggressive behavior 75
Aggressive reaction 75
Amblyopia 38
Aminoaciduria 38
Anxiety 135
Anxiety disease 112
Arthritis 276
Attention deficit hyperactivity disorder 272
Benign neoplasm of central nervous system 2
Bicarbonaturia 2
Childhood onset 38
Chronic Kidney Diseases 12
Chubby cheeks 49
Clonus 18
Cognitive delay 596
Congenital Bilateral Cataracts 49
Congenital cataract 49
Constipation 174
Creatine phosphokinase serum increased 110
Cryptorchidism 287
Curvature of spine 275
Decreased platelet count 110
Decreased size of eyeball 94
Defective enamel matrix 34
Dehydration 39
Dense posterior cortical cataract 1
Dent disease 1 2
Dental Enamel Hypoplasia 42
Depressive disorder 401
Dilated ventricles (finding) 119
Dull intelligence 634
Dyschezia 129
Dysphasia 23
Dysplasia of tooth enamel 34
Electroencephalogram abnormal 100
Elevated amniotic fluid alpha-fetoprotein 3
Elevated creatine kinase 110
Elevated maternal serum alpha-fetoprotein 4
Elevated serum acid phosphatase 4
Enophthalmos 74
Epilepsy 775
Failure to gain weight 359
Feeding difficulties in infancy 174
Fine hair 42
Flexion contracture of proximal interphalangeal joint 74
Frequent fractures 52
Frontal bossing 154
Full cheeks 49
Generalized hypopigmentation 12
Global developmental delay 596
Globe of eye large 19
Hydrophthalmos 19
Hypercalciuria 27
Hypercholesterolemia 43
Hyperkyphosis 109
Hyperparathyroidism 46
Hyperphosphaturia 21
Hyperplasia of cheeks 49
Hypertrophy of cheeks 49
Hypokalemia 50
Hyponatremia 25
Impaired cognition 95
Increased fracture rate 52
Joint hyperflexibility 76
Joint swelling 25
Kidney Failure 108
Knee joint valgus deformity 54
Kyphosis deformity of spine 112
Lens Opacities 227
Long face 71
Low Vision 167
Low intelligence 634
Low-molecular-weight proteinuria 3
Low-set, posteriorly rotated ears 109
Malignant neoplasm of skin 15
Mental Retardation 634
Mental and motor retardation 596
Mental deficiency 634
Mental impairment 95
Microphthalmos 95
Multiple, subcutaneous nodules 49
Neonatal Hypotonia 64
Nystagmus 309
Obsessive compulsive behavior 25
Osteomalacia 33
Pathological fracture 19
Pediatric failure to thrive 359
Periventricular cysts 7
Physical aggression 76
Platyspondyly 53
Poor school performance 634
Progressive renal failure 12
Prominent ear 55
Proteinuria 143
Protruding ears 55
Proximal tubulopathy 9
Puffy cheeks 49
Pupillary abnormality 4
Range of joint movement increased 32
Reduced visual acuity 60
Reflex, Deep Tendon, Absent 90
Renal Insufficiency 87
Renal Tubular Acidosis, Type II 4
Renal failure in adulthood 75
Renal glomerular disease 12
Seizures 584
Self-Injurious Behavior 12
Serum cholesterol raised 22
Short stature 514
Skin Neoplasms 67
Sparse scalp hair 41
Stereotyped Behavior 36
Stereotypic Movement Disorder 41
Subcutaneous nodule 49
Sunken eyes 62
Thin dental enamel 34
Thrombocytopenia 193
Urine phosphorous concentration above normal 21
Varying degree of multiple fractures 52
Visual Impairment 167
Vitamin D Deficiency 3
Wrist swelling 2
X- linked recessive 106
obsessive-compulsive disorder 61
Disease Target Count P-value
lung carcinoma 2755 6.9e-34
osteosarcoma 7766 3.9e-05
lung cancer 4607 8.3e-03
Disease Target Count Z-score Confidence
Carcinoma 11192 0.0 0.9
Kidney cancer 2548 0.0 0.5
Disease Target Count Z-score Confidence
Dent disease 18 0.0 5.0
Disease Target Count Z-score Confidence
Calcinosis 63 4.857 2.4
Kidney disease 411 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