Property Summary

NCBI Gene PubMed Count 143
PubMed Score 360.07
PubTator Score 432.78

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (7)

Disease Target Count
Neuropathy 261
Abnormality of the cranial nerves 7
Abnormality of the immune system 18
Abnormality of the respiratory system 4
Absent reflex 92
Absent tendon reflex 92
Ataxia, Sensory 5
Autosomal recessive predisposition 1442
Axonal degeneration/regeneration 7
Cerebrospinal fluid protein increased above normal 14
Charcot-Marie-Tooth Disease, Type Ib 1
Claw hand 26
Cold-induced muscle cramps 2
Congenital hypomyelinating neuropathy 2
Congenital pes cavus 88
Cranial nerve abnormality 7
Decreased motor NCV 22
Decreased number of large and small myelinated fibers 20
Decreased tendon reflex 122
Deglutition Disorders 132
Dejerine-Sottas Disease (disorder) 5
Disorder of eye 27
Distal amyotrophy 51
Distal limb muscle weakness due to peripheral neuropathy 62
Distal muscle weakness 62
Distal sensory impairment 52
Eye Abnormalities 35
Foot dorsiflexor weakness 27
Foot-drop 27
Gait Ataxia 51
Gait abnormality 135
Gait, Drop Foot 24
Hammer Toe 23
Hearing loss, progressive sensorineural 23
Hereditary Motor and Sensory Neuropathies 5
Highly variable severity 157
Hypertrophic nerve changes 5
Infantile onset 238
Irregular myelin foldings 4
Kyphoscoliosis deformity of spine 60
Motor delay 147
Muscle hypotonia 571
Muscle weakness of upper limb 6
Neonatal Hypotonia 64
No development of motor milestones 147
Onion bulb formation 19
Peripheral Neuropathy 134
Peripheral demyelination 16
Peripheral hypomyelination 7
Prenatal onset 139
Reflex, Deep Tendon, Absent 92
Roussy-Levy Syndrome (disorder) 2
Segmental demyelination/remyelination 8
Sensorineural Hearing Loss (disorder) 284
Slow progression 89
Spinal ataxia 5
Tonic Pupil 1
Ulnar claw 6
Upper limb postural tremor 2
Variable expressivity 157
Disease Target Count P-value
ovarian cancer 8520 9.9e-10
colon cancer 1478 5.7e-06
psoriasis 6694 1.4e-04
lung cancer 4740 1.5e-02
Disease Target Count Z-score Confidence
Acquired metabolic disease 336 0.0 0.8
Disease Target Count Z-score Confidence
Polyneuropathy 64 5.168 2.6
Amyotrophic neuralgia 13 3.071 1.5

Expression

  Differential Expression (4)

Disease log2 FC p
colon cancer -1.500 5.7e-06
lung cancer -1.400 1.5e-02
ovarian cancer 1.200 9.9e-10
psoriasis -2.700 1.4e-04

Gene RIF (78)

AA Sequence

MAPGAPSSSPSPILAVLLFSSLVLSPAQAIVVYTDREVHGAVGSRVTLHCSFWSSEWVSDDISFTWRYQP      1 - 70
EGGRDAISIFHYAKGQPYIDEVGTFKERIQWVGDPRWKDGSIVIHNLDYSDNGTFTCDVKNPPDIVGKTS     71 - 140
QVTLYVFEKVPTRYGVVLGAVIGGVLGVVLLLLLLFYVVRYCWLRRQAALQRRLSAMEKGKLHKPGKDAS    141 - 210
KRGRQTPVLYAMLDHSRSTKAVSEKKAKGLGESRKDKK                                    211 - 248
//

Text Mined References (151)

PMID Year Title