Property Summary

NCBI Gene PubMed Count 56
PubMed Score 65.97
PubTator Score 72.02

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (7)

Disease Target Count
Gout 106
Neuropathy 261
ATAXIA, FATAL X-LINKED, WITH DEAFNESS AND LOSS OF VISION 1
Abnormal nerve conduction velocity 4
Abnormal vision 52
Absent reflex 92
Absent speech 43
Absent tendon reflex 92
Areflexia of lower limbs 9
Arthritis, Gouty 9
CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 5 1
Cerebellar Ataxia 304
Childhood onset 38
Cognitive delay 608
Congenital deafness 185
Congenital pes cavus 88
DEAFNESS, X-LINKED 1 (disorder) 1
Deafness 198
Death in early childhood 82
Death in infancy 82
Decreased nerve conduction velocity 35
Decreased pain sensation 17
Decreased visual acuity, progressive 36
Deglutition Disorders 132
Distal amyotrophy 51
Distal limb muscle weakness due to peripheral neuropathy 62
Distal muscle weakness 62
Distal sensory impairment 52
Drooling 27
Dull intelligence 645
Epilepsy 792
Gait abnormality 135
Global developmental delay 608
Growth delay 114
Growth failure 114
Growth retardation 115
Hearing Loss, Partial 185
Immunologic Deficiency Syndromes 113
Intellectual disability 1016
Kidney Failure 111
Low Vision 174
Low intelligence 645
Mental Retardation 645
Mental and motor retardation 608
Mental deficiency 645
Motor delay 147
Muscle Weakness 170
Muscle hypotonia 571
Muscle mounding 2
Muscle weakness, progressive 22
Neonatal Hypotonia 64
No development of motor milestones 147
Nystagmus 317
Onion bulb formation 19
Optic Atrophy 242
Peripheral Neuropathy 134
Polyneuropathy 64
Poor growth 114
Poor school performance 645
Progressive visual loss 36
Quadriplegia 20
Recurrent infections 48
Recurrent upper respiratory tract infection 21
Reflex, Deep Tendon, Absent 92
Renal Insufficiency 90
Renal failure in adulthood 76
Respiratory Insufficiency 132
Respiratory function loss 121
Segmental demyelination/remyelination 8
Seizures 596
Sensorineural Hearing Loss (disorder) 284
Sensory neuropathy 20
Sialorrhea 28
Skeletal muscle hypertrophy 16
Spinal cord posterior columns myelin loss 1
Uric acid concentration in urine above normal 3
Uric acid urolithiasis 1
Very poor growth 114
Visual Impairment 174
X- linked recessive 110
hearing impairment 199
nonverbal 43
Disease Target Count Z-score Confidence
Carcinoma 11493 0.0 0.6

Expression

  Differential Expression (12)

Disease log2 FC p
Alzheimer's disease -1.200 2.0e-02
colon cancer 1.300 2.4e-02
cystic fibrosis -1.190 5.1e-05
intraductal papillary-mucinous adenoma (... -1.100 1.6e-03
intraductal papillary-mucinous carcinoma... -1.200 1.2e-03
malignant mesothelioma 1.300 3.2e-06
osteosarcoma 1.394 6.3e-03
ovarian cancer -1.800 2.0e-10
pancreatic ductal adenocarcinoma liver m... -1.275 7.1e-03
posterior fossa group B ependymoma 1.400 1.1e-05
psoriasis 2.700 4.6e-05
ulcerative colitis 1.200 1.2e-04

PDB (12)

Gene RIF (26)

AA Sequence

MPNIKIFSGSSHQDLSQKIADRLGLELGKVVTKKFSNQETCVEIGESVRGEDVYIVQSGCGEINDNLMEL      1 - 70
LIMINACKIASASRVTAVIPCFPYARQDKKDKSRAPISAKLVANMLSVAGADHIITMDLHASQIQGFFDI     71 - 140
PVDNLYAEPAVLKWIRENISEWRNCTIVSPDAGGAKRVTSIADRLNVDFALIHKERKKANEVDRMVLVGD    141 - 210
VKDRVAILVDDMADTCGTICHAADKLLSAGATRVYAILTHGIFSGPAISRINNACFEAVVVTNTIPQEDK    211 - 280
MKHCSKIQVIDISMILAEAIRRTHNGESVSYLFSHVPL                                    281 - 318
//

Text Mined References (54)

PMID Year Title