Property Summary

NCBI Gene PubMed Count 154
PubMed Score 591.05
PubTator Score 721.48

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (7)

Disease Target Count
Babinski Reflex 100
Cerebellar Ataxia 304
Cerebellar Dysmetria 56
Choreoathetoid movements 32
Choreoathetosis 32
Classic Pelizaeus-Merzbacher Disease 1
Cocaine abuse 19
Cognitive delay 608
Congenital pes cavus 88
Contracture 96
Contracture of joint 93
Degeneration of the lateral corticospinal tracts 6
Deglutition Disorders 132
Delayed speech and language development 112
Dull intelligence 645
Dysarthria 192
Dysmyelination of the brain 6
Dystonia 164
Dystonic disease 106
Explosive speech 9
Extrapyramidal Disorders 29
Extrapyramidal sign 29
Failure to gain weight 365
Fecal Incontinence 7
Flexion contracture 93
Flexion contractures of joints 93
Global developmental delay 608
Head titubation 3
Highly variable clinical phenotype 150
Highly variable phenotype and severity 150
Highly variable phenotype, even within families 150
Hyperreflexia 209
Increased susceptibility to schizophrenia 2
Infantile onset 238
Intellectual disability 1016
Language Delay 112
Low intelligence 645
Lower limb spasticity 10
Mental Retardation 645
Mental and motor retardation 608
Mental deficiency 645
Monoparesis - leg 27
Muscle Weakness 170
Muscle hypotonia 571
Neurogenic Muscular Atrophy 139
Neurogenic muscle atrophy, especially in the lower limbs 139
Nystagmus 317
Optic Atrophy 242
Paraparesis, Spastic 16
Pediatric failure to thrive 365
Pelizaeus-Merzbacher Disease, Transitional 1
Phenotypic variability 150
Poor school performance 645
Progressive spastic quadriplegia 2
Psychomotor degeneration 4
Pyramidal sign 29
Reduction of oligodendroglia 1
Rotary Nystagmus 1
SPASTIC PARAPLEGIA 2, X-LINKED (disorder) 1
Scanning speech 9
Schizophrenia 1160
Short stature 531
Skeletal muscle atrophy 139
Slow progression 89
Small head 374
Spastic Paraplegia 42
Spastic gait 23
Spastic/hyperactive bladder 1
Speech Delay 112
Speech impairment 112
Spinocerebellar tract degeneration 4
Tremor 113
Weakness of lower limb 27
White matter dysmyelination/demyelination 6
X- linked recessive 110
muscle degeneration 139
Disease Target Count Z-score Confidence
Carcinoma 11493 0.0 0.7
Disease Target Count Z-score Confidence
Hereditary spastic paraplegia 2 3 0.0 5.0

Expression

  Differential Expression (17)

Disease log2 FC p
Atopic dermatitis -1.300 1.4e-02
atypical teratoid / rhabdoid tumor -5.300 2.2e-05
colon cancer -4.700 4.3e-12
cutaneous lupus erythematosus -1.800 4.0e-02
ductal carcinoma in situ -1.100 2.5e-02
ependymoma -3.100 2.8e-06
glioblastoma -1.600 3.6e-02
group 3 medulloblastoma -6.400 9.2e-07
intraductal papillary-mucinous adenoma (... -1.800 2.6e-03
intraductal papillary-mucinous carcinoma... -1.700 4.7e-03
intraductal papillary-mucinous neoplasm ... -1.800 2.5e-02
invasive ductal carcinoma -1.712 1.3e-03
lung carcinoma 1.800 4.8e-10
medulloblastoma, large-cell -4.800 1.1e-04
pediatric high grade glioma -2.400 2.2e-03
psoriasis -1.200 6.0e-05
subependymal giant cell astrocytoma -5.813 1.9e-02

Gene RIF (67)

AA Sequence

MGLLECCARCLVGAPFASLVATGLCFFGVALFCGCGHEALTGTEKLIETYFSKNYQDYEYLINVIHAFQY      1 - 70
VIYGTASFFFLYGALLLAEGFYTTGAVRQIFGDYKTTICGKGLSATVTGGQKGRGSRGQHQAHSLERVCH     71 - 140
CLGKWLGHPDKFVGITYALTVVWLLVFACSAVPVYIYFNTWTTCQSIAFPSKTSASIGSLCADARMYGVL    141 - 210
PWNAFPGKVCGSNLLSICKTAEFQMTFHLFIAAFVGAAATLVSLLTFMIAATYNFAVLKLMGRGTKF       211 - 277
//

Text Mined References (152)

PMID Year Title