Property Summary

NCBI Gene PubMed Count 62
PubMed Score 105.86
PubTator Score 113.25

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (7)

Disease Target Count
Neuropathy 261
Absent reflex 92
Absent tendon reflex 92
Acquired scoliosis 281
Autosomal recessive predisposition 1442
Axonal degeneration/regeneration 7
Axonal regeneration 3
Basal lamina 'onion bulb' formations on nerve biopsy 1
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2K 1
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A (disorder) 1
CNS hypomyelination 17
Charcot-Marie-Tooth disease, Type 2H 1
Charcot-Marie-Tooth disease, Type 4A, axonal form 2
Childhood onset 38
Claw hand 26
Congenital clubfoot 109
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
Deformity of spine 1
Depletion of large myelinated fibers 7
Distal amyotrophy 51
Distal limb muscle weakness due to peripheral neuropathy 62
Distal muscle weakness 62
Distal sensory impairment 52
EMG: neuropathic changes 15
Flexion contracture 93
Flexion contractures of joints 93
Foot dorsiflexor weakness 27
Foot-drop 27
Gait, Drop Foot 24
Hammer Toe 23
Hoarse voice due to vocal cord paresis 3
Hypertrophic nerve changes 5
Hypomyelination 17
Inability to walk by childhood/adolescence 1
Infantile onset 238
Kyphoscoliosis deformity of spine 60
Motor delay 147
Muscle weakness of limb 21
Neonatal onset 21
No development of motor milestones 147
Onion bulb formation 19
Partial Paralysis (Paresis) Vocal Cords 3
Peripheral Neuropathy 134
Peripheral axonal degeneration 4
Peripheral demyelination 16
Peripheral hypomyelination 7
Proximal muscle weakness 47
Proximal neurogenic muscle weakness 47
Rapidly progressive 27
Rapidly progressive disorder 27
Reflex, Deep Tendon, Absent 92
Ulnar claw 6
Vocal cord paresis in severe cases 3
Weakness of vocal cord 3
Disease Target Count Z-score Confidence
Obesity 678 0.0 2.4
Rheumatoid arthritis 1191 0.0 2.1
Disease Target Count Z-score Confidence
Charcot-Marie-Tooth disease 62 0.0 4.0
Neurodegenerative disease 414 0.0 4.0
Disease Target Count Z-score Confidence
Polyneuropathy 64 3.741 1.9

Expression

  Differential Expression (19)

Disease log2 FC p
acute quadriplegic myopathy 1.633 6.0e-08
adult high grade glioma -1.200 1.4e-02
Alzheimer's disease -1.600 2.3e-02
astrocytic glioma -1.500 3.0e-02
Astrocytoma, Pilocytic -1.400 1.6e-06
atypical teratoid / rhabdoid tumor -2.800 1.3e-05
ependymoma -1.600 4.9e-13
glioblastoma -1.600 2.3e-05
intraductal papillary-mucinous adenoma (... -1.100 3.7e-02
intraductal papillary-mucinous neoplasm ... -1.800 4.3e-02
juvenile dermatomyositis 1.171 1.1e-08
lung cancer 1.100 1.7e-02
lung carcinoma 3.100 2.0e-43
malignant mesothelioma -1.700 1.1e-06
medulloblastoma -1.100 3.8e-03
medulloblastoma, large-cell -1.400 2.0e-04
ovarian cancer -2.700 3.5e-08
Pick disease -1.800 1.1e-04
subependymal giant cell astrocytoma -1.023 1.6e-02

Gene RIF (42)

AA Sequence

MAERQEEQRGSPPLRAEGKADAEVKLILYHWTHSFSSQKVRLVIAEKALKCEEHDVSLPLSEHNEPWFMR      1 - 70
LNSTGEVPVLIHGENIICEATQIIDYLEQTFLDERTPRLMPDKESMYYPRVQHYRELLDSLPMDAYTHGC     71 - 140
ILHPELTVDSMIPAYATTRIRSQIGNTESELKKLAEENPDLQEAYIAKQKRLKSKLLDHDNVKYLKKILD    141 - 210
ELEKVLDQVETELQRRNEETPEEGQQPWLCGESFTLADVSLAVTLHRLKFLGFARRNWGNGKRPNLETYY    211 - 280
ERVLKRKTFNKVLGHVNNILISAVLPTAFRVAKKRAPKVLGTTLVVGLLAGVGYFAFMLFRKRLGSMILA    281 - 350
FRPRPNYF                                                                  351 - 358
//

Text Mined References (66)

PMID Year Title