Property Summary

NCBI Gene PubMed Count 64
PubMed Score 205.58
PubTator Score 115.70

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (5)

Disease Target Count
Kidney Failure 108
Abnormal urinary amino-acid findings 38
Abnormality of the voice 46
Abnormality of thyroid physiology 1
Abnormality of vitamin D metabolism 1
Acquired hypothyroidism 2
Adult Fanconi syndrome 12
Aminoaciduria 38
Autosomal recessive predisposition 1407
Beading of ribs 5
Carnitine deficiency 6
Cerebral atrophy 175
Chronic kidney disease stage 5 31
Constipation 174
Corneal Ulcer 20
Corneal crystalline deposits 1
Cystinosis, benign, nonnephropathic 1
Degenerative brain disorder 98
Deglutition Disorders 128
Dehydration 39
Delayed Puberty 94
Delayed bone age 132
Dyschezia 129
Elevated intracellular cystine 1
Epithelial corneal erosions 11
Exocrine pancreatic insufficiency 30
Failure to gain weight 359
Failure to thrive in infancy 32
Frontal bossing 154
Generalized aminoaciduria 9
Glycosuria 29
Growth delay 112
Growth failure 112
Growth retardation 113
Hair hypopigmentation 12
Hepatomegaly 280
Hyperchloremic metabolic acidosis 5
Hyperphosphaturia 21
Hypohidrosis 32
Hypokalemia 50
Hyponatremia 25
Hypophosphatemia 38
Hypophosphatemic Rickets 10
Hypopigmentation disorder 24
Juvenile nephropathic cystinosis (disorder) 1
Knee joint valgus deformity 54
Low Vision 167
Low-molecular-weight proteinuria 3
Male infertility 199
Metaphyseal widening 19
Microscopic hematuria 9
Myopathy 185
Nephritis, Tubulointerstitial 8
Nephrolithiasis 55
Neurogenic Muscular Atrophy 136
Neurogenic muscle atrophy, especially in the lower limbs 136
Pancreatic Insufficiency 13
Pediatric failure to thrive 359
Photodysphoria 117
Photophobia 117
Polydipsia 15
Polyuria 23
Poor growth 112
Progressive neurologic deterioration 19
Proteinuria 143
Recurrent episodes of acidosis 2
Recurrent erosion of cornea 11
Reduced visual acuity 60
Renal Insufficiency 87
Renal failure in adulthood 75
Renal tubular disorder 11
Retinal Diseases 54
Retinitis Pigmentosa 223
Rickets 46
Salt and pepper retinal pigmentation 8
Short stature 514
Skeletal muscle atrophy 136
Splenomegaly 186
Supratentorial atrophy 93
Tubulointerstitial abnormality 1
Urine phosphorous concentration above normal 21
Very poor growth 112
Visual Impairment 167
Vomiting 116
abnormal growth 26
diabetes mellitus 1683
muscle degeneration 136
Disease Target Count Z-score Confidence
Carcinoma 11192 0.0 0.6

Expression

  Differential Expression (4)

Disease log2 FC p
astrocytoma 1.200 8.9e-04
atypical teratoid / rhabdoid tumor 1.400 2.1e-05
glioblastoma 1.300 2.0e-04
posterior fossa group A ependymoma 1.200 8.5e-11

Gene RIF (38)

AA Sequence

MIRNWLTIFILFPLKLVEKCESSVSLTVPPVVKLENGSSTNVSLTLRPPLNATLVITFEITFRSKNITIL      1 - 70
ELPDEVVVPPGVTNSSFQVTSQNVGQLTVYLHGNHSNQTGPRIRFLVIRSSAISIINQVIGWIYFVAWSI     71 - 140
SFYPQVIMNWRRKSVIGLSFDFVALNLTGFVAYSVFNIGLLWVPYIKEQFLLKYPNGVNPVNSNDVFFSL    141 - 210
HAVVLTLIIIVQCCLYERGGQRVSWPAIGFLVLAWLFAFVTMIVAAVGVTTWLQFLFCFSYIKLAVTLVK    211 - 280
YFPQAYMNFYYKSTEGWSIGNVLLDFTGGSFSLLQMFLQSYNNDQWTLIFGDPTKFGLGVFSIVFDVVFF    281 - 350
IQHFCLYRKRPGYDQLN                                                         351 - 367
//

Text Mined References (67)

PMID Year Title