Property Summary

NCBI Gene PubMed Count 71
PubMed Score 213.89
PubTator Score 114.74

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (4)

Disease Target Count
Abnormal skeletal development 60
Abnormal upper motor neuron morphology 11
Abnormality of adipose tissue 3
Abnormality of epiphysis morphology 39
Aggressive behavior 75
Aggressive reaction 75
Agnosia 3
Apraxias 27
Arthralgia 90
Autosomal recessive predisposition 1442
Axonal loss 7
Babinski Reflex 100
Basal ganglia calcification 27
Bone Cysts 12
Bone pain 42
Caudate atrophy 3
Cerebral atrophy 178
Cerebral calcification 43
Chorea 29
Choreatic disease 52
Decreased bone mineral density Z score 31
Decreased joint mobility 53
Defective or absent horizontal voluntary eye movements 25
Degenerative brain disorder 100
Dementia of frontal lobe type 6
Developmental regression 95
Dilated ventricles (finding) 121
Electroencephalogram abnormal 101
Epilepsy 792
Foot Deformities 30
Forgetful 40
Gait abnormality 135
Gliosis 56
Hand deformities 32
Hypoplasia of corpus callosum 90
Irritation - emotion 68
Leukoencephalopathies 29
Loss of developmental milestones 95
Memory Loss 40
Memory impairment 40
Mental deterioration in childhood 95
Muscle Spasticity 195
Myoclonus 74
Neurodevelopmental regression 95
Oculomotor apraxia 25
Osteochondrodysplasias 72
Pathological fracture 20
Peripheral demyelination 16
Personality change 23
Physical aggression 76
Primitive reflexes (palmomental, snout, glabellar) 7
Psychomotor regression 95
Psychomotor regression beginning in infancy 95
Psychomotor regression in infants 95
Psychomotor regression, progressive 95
Schizophrenia 1160
Seizures 596
Social disinhibition 14
Speech Disorders 58
Supratentorial atrophy 94
Urinary Incontinence 50

Expression

 OMIM Phenotype (1)

Gene RIF (43)

AA Sequence

MGGLEPCSRLLLLPLLLAVSGLRPVQAQAQSDCSCSTVSPGVLAGIVMGDLVLTVLIALAVYFLGRLVPR      1 - 70
GRGAAEAATRKQRITETESPYQELQGQRSDVYSDLNTQRPYYK                                71 - 113
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Text Mined References (77)

PMID Year Title