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 103
Neuropathy 254
ATAXIA, FATAL X-LINKED, WITH DEAFNESS AND LOSS OF VISION 1
Abnormal nerve conduction velocity 4
Abnormal vision 51
Absent reflex 90
Absent speech 43
Absent tendon reflex 90
Areflexia of lower limbs 9
Arthritis, Gouty 9
CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 5 1
Cerebellar Ataxia 302
Childhood onset 38
Cognitive delay 596
Congenital deafness 180
Congenital pes cavus 86
DEAFNESS, X-LINKED 1 (disorder) 1
Deafness 193
Death in early childhood 82
Death in infancy 82
Decreased nerve conduction velocity 34
Decreased pain sensation 17
Decreased visual acuity, progressive 35
Deglutition Disorders 128
Distal amyotrophy 49
Distal limb muscle weakness due to peripheral neuropathy 60
Distal muscle weakness 60
Distal sensory impairment 50
Drooling 27
Dull intelligence 634
Epilepsy 775
Gait abnormality 129
Global developmental delay 596
Growth delay 112
Growth failure 112
Growth retardation 113
Hearing Loss, Partial 180
Immunologic Deficiency Syndromes 110
Intellectual disability 998
Kidney Failure 108
Low Vision 167
Low intelligence 634
Mental Retardation 634
Mental and motor retardation 596
Mental deficiency 634
Motor delay 144
Muscle Weakness 168
Muscle hypotonia 562
Muscle mounding 2
Muscle weakness, progressive 22
Neonatal Hypotonia 64
No development of motor milestones 144
Nystagmus 309
Onion bulb formation 18
Optic Atrophy 239
Peripheral Neuropathy 131
Polyneuropathy 63
Poor growth 112
Poor school performance 634
Progressive visual loss 35
Quadriplegia 20
Recurrent infections 48
Recurrent upper respiratory tract infection 21
Reflex, Deep Tendon, Absent 90
Renal Insufficiency 87
Renal failure in adulthood 75
Respiratory Insufficiency 130
Respiratory function loss 119
Segmental demyelination/remyelination 7
Seizures 584
Sensorineural Hearing Loss (disorder) 281
Sensory neuropathy 20
Sialorrhea 28
Skeletal muscle hypertrophy 15
Spinal cord posterior columns myelin loss 1
Uric acid concentration in urine above normal 3
Uric acid urolithiasis 1
Very poor growth 112
Visual Impairment 167
X- linked recessive 106
hearing impairment 194
nonverbal 43
Disease Target Count Z-score Confidence
Carcinoma 11192 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

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