Property Summary

NCBI Gene PubMed Count 113
PubMed Score 225.32
PubTator Score 197.70

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (7)

Disease Target Count
Abnormal ocular motility 19
Abnormality of glycosphingolipid metabolism 2
Anemia 365
Autosomal recessive predisposition 1442
Babinski Reflex 100
Central nervous system demyelination 28
Cerebrospinal fluid protein increased above normal 14
Cognitive delay 608
Death in childhood 14
Death in early childhood 82
Death in infancy 82
Decreased nerve conduction velocity 35
Decreased platelet count 111
Decreased tendon reflex 122
Deglutition Disorders 132
Developmental regression 95
Dysarthria 192
Dysmyelination of the brain 6
Dystonia 164
Dystonic disease 106
Epilepsy 792
Erlenmeyer flask femora 4
Feeding difficulties 127
Gait Ataxia 51
Generalized clonic seizures 1
Generalized osteopenia 99
Global brain atrophy 7
Global developmental delay 608
Hemoglobin low 124
Hepatomegaly 285
Hepatosplenomegaly 22
Highly variable severity 157
Hyperactive behavior 91
Hyperreflexia 209
Hypoplasia of corpus callosum 90
Increased cerebral lipofuscin 1
Infantile Globoid Cell Leukodystrophy 2
Infantile onset 238
Loss of developmental milestones 95
Loss of speech 16
Mental and motor retardation 608
Mental deterioration 32
Mental deterioration in childhood 95
Metachromatic Leukodystrophy, Adult-Type (disorder) 2
Metachromatic leukodystrophy, juvenile type 2
Muscle Hypertonia 88
Muscle Weakness 170
Muscle hypotonia 571
Muscular fasciculation 22
Myoclonus 74
Neurodevelopmental regression 95
Neuronal loss 25
Osteopenia 99
Peripheral Neuropathy 134
Peripheral demyelination 16
Periventricular white matter abnormalities 8
Polyneuropathy 64
Prenatal onset 139
Psychomotor regression 95
Psychomotor regression beginning in infancy 95
Psychomotor regression in infants 95
Psychomotor regression, progressive 95
Recurrent respiratory infections 141
Respiratory Failure 104
Respiratory Insufficiency 132
Respiratory function loss 121
Seizures 596
Sleep Apnea, Central 8
Spasm 6
Spastic tetraparesis 12
Splenomegaly 190
Thrombocytopenia 197
Tonic - clonic seizures 44
Urinary Incontinence 50
Variable expressivity 157
White matter dysmyelination/demyelination 6
Disease Target Count P-value
ovarian cancer 8520 4.0e-10
acute quadriplegic myopathy 1158 2.1e-06
chronic lymphosyte leukemia 204 2.4e-06
Multiple myeloma 1332 7.7e-05
psoriasis 6694 1.5e-04
astrocytoma 1146 2.0e-02
Disease Target Count Z-score Confidence
Carcinoma 11493 0.0 0.8

Expression

  Differential Expression (6)

Disease log2 FC p
acute quadriplegic myopathy 1.223 2.1e-06
astrocytoma 1.900 2.0e-02
chronic lymphosyte leukemia -1.100 2.4e-06
Multiple myeloma 1.766 7.7e-05
ovarian cancer -2.700 4.0e-10
psoriasis -2.100 1.5e-04

Protein-protein Interaction (3)

Gene RIF (47)

AA Sequence

MYALFLLASLLGAALAGPVLGLKECTRGSAVWCQNVKTASDCGAVKHCLQTVWNKPTVKSLPCDICKDVV      1 - 70
TAAGDMLKDNATEEEILVYLEKTCDWLPKPNMSASCKEIVDSYLPVILDIIKGEMSRPGEVCSALNLCES     71 - 140
LQKHLAELNHQKQLESNKIPELDMTEVVAPFMANIPLLLYPQDGPRSKPQPKDNGDVCQDCIQMVTDIQT    141 - 210
AVRTNSTFVQALVEHVKEECDRLGPGMADICKNYISQYSEIAIQMMMHMQPKEICALVGFCDEVKEMPMQ    211 - 280
TLVPAKVASKNVIPALELVEPIKKHEVPAKSDVYCEVCEFLVKEVTKLIDNNKTEKEILDAFDKMCSKLP    281 - 350
KSLSEECQEVVDTYGSSILSILLEEVSPELVCSMLHLCSGTRLPALTVHVTQPKDGGFCEVCKKLVGYLD    351 - 420
RNLEKNSTKQEILAALEKGCSFLPDPYQKQCDQFVAEYEPVLIEILVEVMDPSFVCLKIGACPSAHKPLL    421 - 490
GTEKCIWGPSYWCQNTETAAQCNAVEHCKRHVWN                                        491 - 524
//

Text Mined References (124)

PMID Year Title