Property Summary

NCBI Gene PubMed Count 68
PubMed Score 132.44
PubTator Score 148.45

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (5)

Disease Target Count
Intellectual disability 1016
Abnormal behavior 52
Acidosis, Lactic 97
Adenocarcinoma of lung (disorder) 60
Aggressive behavior 75
Aggressive reaction 75
Agitation 16
Arachnodactyly 49
Broad-based gait 19
Choreoathetoid movements 32
Choreoathetosis 32
Cognitive delay 608
Delayed speech and language development 112
Developmental regression 95
Dull intelligence 645
Dysarthria 192
Epilepsy 792
Global developmental delay 608
Hallucinations 34
Hallucinations, Sensory 33
Hydroxyacyl-CoA Dehydrogenase, Type 2, Deficiency 1
Hyperreflexia 209
Hypertrophic Cardiomyopathy 117
Hypoglycemia 152
Hypotonia, axial, in infancy 1
Infantile onset 238
Lactic acidemia 95
Language Delay 112
Loss of developmental milestones 95
Low intelligence 645
Lumbar lordosis 35
MENTAL RETARDATION, X-LINKED 17 1
Mental Retardation 645
Mental and motor retardation 608
Mental deficiency 645
Mental deterioration in childhood 95
Metabolic acidosis 90
Motor delay 147
Movement Disorders 55
Muscle Spasticity 195
Muscle hypotonia 571
Neurodevelopmental regression 95
No development of motor milestones 147
Nystagmus 317
Physical aggression 76
Poor school performance 645
Progressive neurologic deterioration 19
Psychomotor regression 95
Psychomotor regression beginning in infancy 95
Psychomotor regression in infants 95
Psychomotor regression, progressive 95
Psychotic Disorders 151
Restlessness 14
Retinal Degeneration 106
Seizures 596
Sensorineural Hearing Loss (disorder) 284
Speech Delay 112
Speech impairment 112
X- linked recessive 110
X-linked dominant 57
Disease Target Count Z-score Confidence
Neurodegenerative disease 414 0.0 4.0
Disease Target Count
2-methyl-3-hydroxybutyric aciduria 1

Expression

Protein-protein Interaction (3)

Gene RIF (42)

AA Sequence

MAAACRSVKGLVAVITGGASGLGLATAERLVGQGASAVLLDLPNSGGEAQAKKLGNNCVFAPADVTSEKD      1 - 70
VQTALALAKGKFGRVDVAVNCAGIAVASKTYNLKKGQTHTLEDFQRVLDVNLMGTFNVIRLVAGEMGQNE     71 - 140
PDQGGQRGVIINTASVAAFEGQVGQAAYSASKGGIVGMTLPIARDLAPIGIRVMTIAPGLFGTPLLTSLP    141 - 210
EKVCNFLASQVPFPSRLGDPAEYAHLVQAIIENPFLNGEVIRLDGAIRMQP                       211 - 261
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Text Mined References (75)

PMID Year Title