Property Summary

NCBI Gene PubMed Count 33
PubMed Score 170.15
PubTator Score 132.36

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (6)

Disease Target Count Z-score Confidence
Giant Axonal Neuropathy 1 0.0 0.0
Peripheral Nervous System Diseases 52 0.0 0.0
Disease Target Count
Abnormal hand morphology 2
Abnormality of the Achilles tendon 3
Absent reflex 92
Absent tendon reflex 92
Acquired flat foot 72
Acquired scoliosis 281
Afro-textured hair 13
Areflexia of lower limbs 9
Autosomal recessive predisposition 1442
Bell Palsy 58
CNS hypomyelination 17
Cerebellar abnormalities 4
Cerebellar signs 4
Congenital clubfoot 109
Congenital pes cavus 88
Curly hair (finding) 14
Curvature of spine 282
Decreased number of large and small myelinated fibers 20
Difficulty walking 28
Diffuse axonal swelling 2
Distal amyotrophy 51
Distal limb muscle weakness due to peripheral neuropathy 62
Distal motor neuropathy 3
Distal muscle weakness 62
Distal sensory impairment 52
Dull intelligence 645
Dysarthria 192
Facial Paresis 59
Facial muscle weakness of muscles innervated by CN VII 58
Flatfoot 73
GIANT AXONAL NEUROPATHY 1 1
Gait, Drop Foot 24
Gait, Unsteady 29
Generalized hypotonia 37
Hand deformities 32
Highly variable clinical phenotype 150
Highly variable phenotype and severity 150
Highly variable phenotype, even within families 150
Hyperreflexia 209
Hypomyelination 17
Hyporeflexia of lower limbs 10
Intellectual disability 1016
Kinky hair texture 13
Length dependent motor neuropathy 3
Low intelligence 645
Mental Retardation 645
Mental deficiency 645
Morphological abnormality of the pyramidal tract 12
Motor axonal neuropathy 3
Muscle Spasticity 195
Nappy hair texture 13
Nystagmus 317
Peripheral Neuropathy 134
Peripheral sensory axonal neuropathy 7
Phenotypic variability 150
Pili canaliculi 4
Poor school performance 645
Proximal muscle weakness 47
Proximal neurogenic muscle weakness 47
Pyramidal sign 29
Pyramidal tract disease 12
Range of joint movement increased 32
Reflex, Deep Tendon, Absent 92
Sensory axonal neuropathy 7
Slow progression 89
Spastic Paraplegia 42
Wooly hair 17
Disease Target Count Z-score Confidence
Carcinoma 11493 0.0 0.7
Disease Target Count Z-score Confidence
Neuropathy 261 5.152 2.6
Neurodegenerative disease 414 0.0 4.0
Disease Target Count Z-score Confidence
Jejunal neoplasm 1 3.803 1.9
Retinitis pigmentosa 42 9 3.719 1.9

Expression

  Differential Expression (7)

Disease log2 FC p
Atopic dermatitis -1.200 3.6e-03
interstitial cystitis -1.100 7.3e-03
intraductal papillary-mucinous neoplasm ... 1.100 7.3e-03
lung cancer 1.400 8.8e-03
medulloblastoma, large-cell -1.300 2.6e-03
psoriasis -1.700 4.3e-38
spina bifida -2.050 4.3e-02

 GWAS Trait (1)

Protein-protein Interaction (8)

Gene RIF (18)

AA Sequence

MAEGSAVSDPQHAARLLRALSSFREESRFCDAHLVLDGEEIPVQKNILAAASPYIRTKLNYNPPKDDGST      1 - 70
YKIELEGISVMVMREILDYIFSGQIRLNEDTIQDVVQAADLLLLTDLKTLCCEFLEGCIAAENCIGIRDF     71 - 140
ALHYCLHHVHYLATEYLETHFRDVSSTEEFLELSPQKLKEVISLEKLNVGNERYVFEAVIRWIAHDTEIR    141 - 210
KVHMKDVMSALWVSGLDSSYLREQMLNEPLVREIVKECSNIPLSQPQQGEAMLANFKPRGYSECIVTVGG    211 - 280
EERVSRKPTAAMRCMCPLYDPNRQLWIELAPLSMPRINHGVLSAEGFLFVFGGQDENKQTLSSGEKYDPD    281 - 350
ANTWTALPPMNEARHNFGIVEIDGMLYILGGEDGEKELISMECYDIYSKTWTKQPDLTMVRKIGCYAAMK    351 - 420
KKIYAMGGGSYGKLFESVECYDPRTQQWTAICPLKERRFGAVACGVAMELYVFGGVRSREDAQGSEMVTC    421 - 490
KSEFYHDEFKRWIYLNDQNLCIPASSSFVYGAVPIGASIYVIGDLDTGTNYDYVREFKRSTGTWHHTKPL    491 - 560
LPSDLRRTGCAALRIANCKLFRLQLQQGLFRIRVHSP                                     561 - 597
//

Text Mined References (35)

PMID Year Title