Property Summary

NCBI Gene PubMed Count 31
PubMed Score 159.27
PubTator Score 123.57

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (5)

Disease Target Count Z-score Confidence
Neuroaxonal Dystrophies 2 0.0 0.0
Schindler Disease, Type I 1 0.0 0.0
Disease Target Count
Fabry disease 11
Abnormal urinary amino-acid findings 38
Adult onset 82
Aminoaciduria 38
Angioectasias of the lip 4
Autistic Disorder 364
Autosomal recessive predisposition 1442
Axonal degeneration 7
Axonal neuropathy 27
Blindness, Cortical 24
Brainstem abnormalities 7
Cardiomegaly 116
Cataract 297
Cerebral atrophy 178
Cloudy cornea 33
Coarse facial features 108
Cognitive delay 608
Concave bridge of nose 195
Congenital deafness 185
Corneal stromal opacities 33
Cortical visual impairment 24
Deafness 198
Degenerative brain disorder 100
Depressed nasal bridge 195
Depressed nasal root/bridge 195
Developmental regression 95
Disorder of eye 27
Distal limb muscle weakness due to peripheral neuropathy 62
Distal muscle weakness 62
Distal sensory impairment 52
Distal sensory impairment of all modalities 7
Dizziness 26
Dry skin 75
Dull intelligence 645
Epilepsy 792
Extrapyramidal Disorders 29
Extrapyramidal sign 29
Eye Abnormalities 35
Full lower lip 64
Generalized amyotrophy 20
Generalized osteopenia 99
Global developmental delay 608
Hearing Loss, Partial 185
Hemiplegia and hemiparesis 38
Hepatomegaly 285
Hyperkeratosis 50
Hyperreflexia 209
Hypertrophic Cardiomyopathy 117
Impaired cognition 96
Increased urinary O-linked sialopeptides 2
Infantile onset 238
Intellectual disability 1016
Lens Opacities 231
Lip telangiectases 4
Loss of developmental milestones 95
Low intelligence 645
Lymphatic obstruction 21
Lymphedema 42
Mental Retardation 645
Mental and motor retardation 608
Mental deficiency 645
Mental deterioration in childhood 95
Mental impairment 95
Mild Mental Retardation 70
Multiple, subcutaneous nodules 53
Muscle Spasticity 195
Muscle Weakness 170
Muscle hypotonia 571
Myoclonus 74
Neurodevelopmental regression 95
Neuropathy 261
Nystagmus 317
Onset of lymphedema around puberty 21
Optic Atrophy 242
Osteopenia 99
Papule 43
Peripheral Neuropathy 134
Peripheral axonal neuropathy 18
Poor school performance 645
Prominent lower lip 64
Psychomotor regression 95
Psychomotor regression beginning in infancy 95
Psychomotor regression in infants 95
Psychomotor regression, progressive 95
Pyramidal sign 29
Schindler Disease, Type II 1
Seizures 596
Sensorineural Hearing Loss (disorder) 284
Severe mental retardation (I.Q. 20-34) 99
Spider veins of the lip 4
Strabismus 270
Subcutaneous nodule 53
Supratentorial atrophy 94
Telangiectasia of the oral mucosa 1
Telangiectasia of the skin 39
Thick vermilion border 25
Thickened facial skin with coarse facial features 108
Tinnitus 19
Vertigo 29
White mater abnormalities in the posterior periventricular region 1
Xerosis 75
hearing impairment 199

Expression

  Differential Expression (8)

Disease log2 FC p
astrocytoma 1.100 2.5e-02
Astrocytoma, Pilocytic 1.400 9.1e-10
ependymoma 1.200 3.1e-11
glioblastoma 1.200 2.0e-02
malignant mesothelioma -1.400 1.2e-06
osteosarcoma -1.142 4.8e-03
subependymal giant cell astrocytoma 1.221 1.4e-02
tuberculosis 1.900 3.5e-09

Gene RIF (8)

AA Sequence

MLLKTVLLLGHVAQVLMLDNGLLQTPPMGWLAWERFRCNINCDEDPKNCISEQLFMEMADRMAQDGWRDM      1 - 70
GYTYLNIDDCWIGGRDASGRLMPDPKRFPHGIPFLADYVHSLGLKLGIYADMGNFTCMGYPGTTLDKVVQ     71 - 140
DAQTFAEWKVDMLKLDGCFSTPEERAQGYPKMAAALNATGRPIAFSCSWPAYEGGLPPRVNYSLLADICN    141 - 210
LWRNYDDIQDSWWSVLSILNWFVEHQDILQPVAGPGHWNDPDMLLIGNFGLSLEQSRAQMALWTVLAAPL    211 - 280
LMSTDLRTISAQNMDILQNPLMIKINQDPLGIQGRRIHKEKSLIEVYMRPLSNKASALVFFSCRTDMPYR    281 - 350
YHSSLGQLNFTGSVIYEAQDVYSGDIISGLRDETNFTVIINPSGVVMWYLYPIKNLEMSQQ             351 - 411
//

Text Mined References (34)

PMID Year Title