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 111
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 1442
Beading of ribs 6
Carnitine deficiency 6
Cerebral atrophy 178
Chronic kidney disease stage 5 31
Constipation 181
Corneal Ulcer 21
Corneal crystalline deposits 1
Cystinosis, benign, nonnephropathic 1
Degenerative brain disorder 100
Deglutition Disorders 132
Dehydration 40
Delayed Puberty 97
Delayed bone age 136
Dyschezia 135
Elevated intracellular cystine 1
Epithelial corneal erosions 12
Exocrine pancreatic insufficiency 32
Failure to gain weight 365
Failure to thrive in infancy 32
Frontal bossing 157
Generalized aminoaciduria 9
Glycosuria 29
Growth delay 114
Growth failure 114
Growth retardation 115
Hair hypopigmentation 12
Hepatomegaly 285
Hyperchloremic metabolic acidosis 5
Hyperphosphaturia 21
Hypohidrosis 34
Hypokalemia 52
Hyponatremia 25
Hypophosphatemia 40
Hypophosphatemic Rickets 11
Hypopigmentation disorder 25
Juvenile nephropathic cystinosis (disorder) 1
Knee joint valgus deformity 56
Low Vision 174
Low-molecular-weight proteinuria 3
Male infertility 206
Metaphyseal widening 22
Microscopic hematuria 9
Myopathy 185
Nephritis, Tubulointerstitial 8
Nephrolithiasis 56
Neurogenic Muscular Atrophy 139
Neurogenic muscle atrophy, especially in the lower limbs 139
Pancreatic Insufficiency 13
Pediatric failure to thrive 365
Photodysphoria 121
Photophobia 121
Polydipsia 15
Polyuria 23
Poor growth 114
Progressive neurologic deterioration 19
Proteinuria 144
Recurrent episodes of acidosis 2
Recurrent erosion of cornea 12
Reduced visual acuity 63
Renal Insufficiency 90
Renal failure in adulthood 76
Renal tubular disorder 12
Retinal Diseases 55
Retinitis Pigmentosa 226
Rickets 49
Salt and pepper retinal pigmentation 8
Short stature 531
Skeletal muscle atrophy 139
Splenomegaly 190
Supratentorial atrophy 94
Tubulointerstitial abnormality 1
Urine phosphorous concentration above normal 21
Very poor growth 114
Visual Impairment 174
Vomiting 116
abnormal growth 26
diabetes mellitus 1728
muscle degeneration 139
Disease Target Count Z-score Confidence
Carcinoma 11493 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