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 254
Abnormality of the cranial nerves 6
Abnormality of the immune system 18
Abnormality of the respiratory system 4
Absent reflex 90
Absent tendon reflex 90
Ataxia, Sensory 5
Autosomal recessive predisposition 1407
Axonal degeneration/regeneration 7
Cerebrospinal fluid protein increased above normal 14
Charcot-Marie-Tooth Disease, Type Ib 1
Claw hand 25
Cold-induced muscle cramps 2
Congenital hypomyelinating neuropathy 2
Congenital pes cavus 86
Cranial nerve abnormality 6
Decreased motor NCV 22
Decreased number of large and small myelinated fibers 20
Decreased tendon reflex 121
Deglutition Disorders 128
Dejerine-Sottas Disease (disorder) 5
Disorder of eye 26
Distal amyotrophy 49
Distal limb muscle weakness due to peripheral neuropathy 60
Distal muscle weakness 60
Distal sensory impairment 50
Eye Abnormalities 34
Foot dorsiflexor weakness 27
Foot-drop 27
Gait Ataxia 49
Gait abnormality 129
Gait, Drop Foot 24
Hammer Toe 23
Hearing loss, progressive sensorineural 23
Hereditary Motor and Sensory Neuropathies 5
Highly variable severity 149
Hypertrophic nerve changes 5
Infantile onset 236
Irregular myelin foldings 4
Kyphoscoliosis deformity of spine 59
Motor delay 144
Muscle hypotonia 562
Muscle weakness of upper limb 5
Neonatal Hypotonia 64
No development of motor milestones 144
Onion bulb formation 18
Peripheral Neuropathy 131
Peripheral demyelination 16
Peripheral hypomyelination 7
Prenatal onset 137
Reflex, Deep Tendon, Absent 90
Roussy-Levy Syndrome (disorder) 2
Segmental demyelination/remyelination 7
Sensorineural Hearing Loss (disorder) 281
Slow progression 88
Spinal ataxia 5
Tonic Pupil 1
Ulnar claw 6
Upper limb postural tremor 2
Variable expressivity 149
Disease Target Count P-value
ovarian cancer 8297 9.9e-10
colon cancer 1428 5.7e-06
psoriasis 6514 1.4e-04
lung cancer 4607 1.5e-02
Disease Target Count Z-score Confidence
Acquired metabolic disease 329 0.0 0.8
Disease Target Count Z-score Confidence
Polyneuropathy 63 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