Property Summary

NCBI Gene PubMed Count 184
PubMed Score 344.39
PubTator Score 606.91

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (7)

Disease Target Count
Abnormality of the immune system 18
Absent reflex 92
Absent tendon reflex 92
Acquired scoliosis 281
Acute demyelinating polyneuropathy 1
Acute inflammatory demyelinating polyneuropathy 1
Ataxia, Sensory 5
Autosomal recessive predisposition 1442
Cerebrospinal fluid protein increased above normal 14
Charcot-Marie-Tooth Disease, Type Ia (disorder) 1
Charcot-Marie-Tooth disease, Type 1E 1
Childhood onset 38
Claw hand 26
Cold-induced muscle cramps 2
Congenital deafness 185
Congenital pes cavus 88
Curvature of spine 282
Deafness 198
Decreased motor NCV 22
Decreased number of large and small myelinated fibers 20
Decreased tendon reflex 122
Dejerine-Sottas Disease (disorder) 5
Distal amyotrophy 51
Distal limb muscle weakness due to peripheral neuropathy 62
Distal muscle weakness 62
Distal sensory impairment 52
Foot dorsiflexor weakness 27
Foot-drop 27
Gait Ataxia 51
Gait abnormality 135
Gait, Drop Foot 24
Hammer Toe 23
Hearing Loss, Partial 185
Hereditary Motor and Sensory Neuropathies 5
Hereditary liability to pressure palsies 1
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
No development of motor milestones 147
Onion bulb formation 19
Peripheral Neuropathy 134
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
Talipes Calcaneovalgus 6
Ulnar claw 6
Upper limb postural tremor 2
Variable expressivity 157
Vocal Cord Paralysis 7
hearing impairment 199
Disease Target Count Z-score Confidence
Hereditary neuropathy with liability to pressure palsies 9 0.0 5.0
Disease Target Count Z-score Confidence
Polyneuropathy 64 4.935 2.5
Brachial plexus neuropathy 6 4.283 2.1

Expression

  Differential Expression (27)

Disease log2 FC p
active Crohn's disease 1.806 1.8e-02
active ulcerative colitis 3.385 4.5e-02
acute quadriplegic myopathy 1.060 1.3e-02
autosomal dominant Emery-Dreifuss muscul... 1.144 2.9e-02
breast carcinoma -1.200 2.0e-05
colon cancer -2.600 5.6e-03
cystic fibrosis -3.427 1.6e-08
dermatomyositis 1.500 3.2e-03
Down syndrome 1.300 6.6e-04
ductal carcinoma in situ -1.400 5.9e-03
gastric carcinoma 1.100 1.2e-02
group 3 medulloblastoma -2.000 1.0e-04
intraductal papillary-mucinous adenoma (... -2.300 3.2e-03
intraductal papillary-mucinous neoplasm ... -2.000 3.9e-02
invasive ductal carcinoma -1.900 8.3e-04
lung adenocarcinoma -1.800 3.4e-08
lung cancer -3.200 2.8e-05
lung carcinoma -1.900 1.3e-19
malignant mesothelioma -7.100 7.3e-10
medulloblastoma, large-cell -1.700 3.7e-02
non primary Sjogren syndrome sicca 1.300 1.6e-02
non-small cell lung cancer -1.381 3.3e-15
ovarian cancer -4.300 2.2e-11
pancreatic cancer 2.200 3.8e-05
pituitary cancer -2.500 1.7e-07
primary pancreatic ductal adenocarcinoma 2.184 2.9e-04
tuberculosis -3.500 6.1e-06

Gene RIF (108)

AA Sequence

MLLLLLSIIVLHVAVLVLLFVSTIVSQWIVGNGHATDLWQNCSTSSSGNVHHCFSSSPNEWLQSVQATMI      1 - 70
LSIIFSILSLFLFFCQLFTLTKGGRFYITGIFQILAGLCVMSAAAIYTVRHPEWHLNSDYSYGFAYILAW     71 - 140
VAFPLALLSGVIYVILRKRE                                                      141 - 160
//

Text Mined References (184)

PMID Year Title