Property Summary

NCBI Gene PubMed Count 161
PubMed Score 484.58
PubTator Score 296.28

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (7)

Disease Target Count
Abnormal color vision 31
Abnormal visual evoked potential 26
Absent reflex 92
Absent tendon reflex 92
Acquired scoliosis 281
Anosmia 22
Arthralgia 90
Autosomal recessive predisposition 1442
Axonal degeneration/regeneration 7
Babinski Reflex 100
Benign symmetrical lipomatosis 1
Blind spot located at fixation point 21
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A2 (disorder) 1
Color vision defect 33
Color vision defect, severe 31
Congenital pes cavus 88
Contracture 96
Contracture of joint 93
Curvature of spine 282
Decreased motor NCV 22
Decreased number of large and small myelinated fibers 20
Decreased tendon reflex 122
Decreased to absent deep tendon reflexes 42
Decreased visual acuity, slowly progressive 13
Distal amyotrophy 51
Distal limb muscle weakness due to peripheral neuropathy 62
Distal muscle weakness 62
Distal sensory impairment 52
Distal sensory impairment of all modalities 7
Dysmetric saccades 9
Flexion contracture 93
Flexion contractures of joints 93
Foot dorsiflexor weakness 27
Foot-drop 27
Gait abnormality 135
Gait, Drop Foot 24
Hammer Toe 23
Hepatomegaly 285
Hereditary motor and sensory neuropathy with optic atrophy (disorder) 2
Highly variable severity 157
Hoarse voice due to vocal cord paresis 3
Infantile onset 238
Insulin Resistance 72
Joint stiffness 84
Lipoma 32
Lumbar lordosis 35
Multiple lipomata 7
Muscle weakness of limb 21
Onion bulb formation 19
Optic Atrophy 242
Pain 103
Pallor of optic disc 39
Paresthesia 32
Partial Paralysis (Paresis) Vocal Cords 3
Peripheral axonal atrophy 4
Proximal muscle weakness 47
Proximal neurogenic muscle weakness 47
Reflex, Deep Tendon, Absent 92
Romberg's sign positive 4
Scotoma, Central 21
Slow decrease in visual acuity 13
Slow progression 89
Spastic Paraplegia, Hereditary 5
Tinnitus 19
Variable expressivity 157
Vocal cord paresis in severe cases 3
Weakness of vocal cord 3
Disease Target Count Z-score Confidence
Carcinoma 11493 0.0 0.8
Disease Target Count Z-score Confidence
Polyneuropathy 64 3.49 1.7
diabetes mellitus 1728 3.027 1.5

Expression

  Differential Expression (9)

Disease log2 FC p
aldosterone-producing adenoma -1.086 4.1e-02
Amyotrophic lateral sclerosis -1.009 4.3e-04
dermatomyositis -1.100 2.6e-02
Gaucher disease type 1 -1.700 6.3e-03
glioblastoma 1.100 2.1e-02
group 4 medulloblastoma 1.300 1.2e-02
limb girdle muscular dystrophy 2B -1.133 4.5e-04
medulloblastoma, large-cell 1.400 6.4e-04
osteosarcoma 2.037 4.0e-05

Gene RIF (143)

AA Sequence

MSLLFSRCNSIVTVKKNKRHMAEVNASPLKHFVTAKKKINGIFEQLGAYIQESATFLEDTYRNAELDPVT      1 - 70
TEEQVLDVKGYLSKVRGISEVLARRHMKVAFFGRTSNGKSTVINAMLWDKVLPSGIGHTTNCFLRVEGTD     71 - 140
GHEAFLLTEGSEEKRSAKTVNQLAHALHQDKQLHAGSLVSVMWPNSKCPLLKDDLVLMDSPGIDVTTELD    141 - 210
SWIDKFCLDADVFVLVANSESTLMQTEKHFFHKVSERLSRPNIFILNNRWDASASEPEYMEEVRRQHMER    211 - 280
CTSFLVDELGVVDRSQAGDRIFFVSAKEVLNARIQKAQGMPEGGGALAEGFQVRMFEFQNFERRFEECIS    281 - 350
QSAVKTKFEQHTVRAKQIAEAVRLIMDSLHMAAREQQVYCEEMREERQDRLKFIDKQLELLAQDYKLRIK    351 - 420
QITEEVERQVSTAMAEEIRRLSVLVDDYQMDFHPSPVVLKVYKNELHRHIEEGLGRNMSDRCSTAITNSL    421 - 490
QTMQQDMIDGLKPLLPVSVRSQIDMLVPRQCFSLNYDLNCDKLCADFQEDIEFHFSLGWTMLVNRFLGPK    491 - 560
NSRRALMGYNDQVQRPIPLTPANPSMPPLPQGSLTQEEFMVSMVTGLASLTSRTSMGILVVGGVVWKAVG    561 - 630
WRLIALSFGLYGLLYVYERLTWTTKAKERAFKRQFVEHASEKLQLVISYTGSNCSHQVQQELSGTFAHLC    631 - 700
QQVDVTRENLEQEIAAMNKKIEVLDSLQSKAKLLRNKAGWLDSELNMFTHQYLQPSR                 701 - 757
//

Text Mined References (165)

PMID Year Title