Property Summary

NCBI Gene PubMed Count 44
PubMed Score 107.12
PubTator Score 140.64

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (8)

Disease Target Count Z-score Confidence
Canavan disease 10 7.373 3.7
Disease Target Count
Abnormal vision 52
Abnormal visual evoked potential 26
Aplasia/Hypoplasia involving the central nervous system 1
Autosomal recessive predisposition 1442
Big calvaria 147
Blind Vision 111
Blindness, Legal 110
Central nervous system demyelination 28
Cerebral atrophy 178
Cognitive delay 608
Comatose 56
Congenital deafness 185
Deafness 198
Degenerative brain disorder 100
Deglutition Disorders 132
Delayed closure of the soft spot on the skull 11
Delayed speech and language development 112
Developmental regression 95
Dull intelligence 645
Electroencephalogram abnormal 101
Epilepsy 792
Gastroesophageal reflux disease 110
Generalized seizures 9
Generalized seizures, recurrent 9
Global developmental delay 608
Hearing Loss, Partial 185
Heartburn 78
Increased head circumference 147
Increased size of cranium 147
Increased size of skull 147
Intellectual disability 1016
Language Delay 112
Late closure of anterior fontanel 11
Lethargy 77
Loss of developmental milestones 95
Low intelligence 645
Mental Retardation 645
Mental and motor retardation 608
Mental deficiency 645
Mental deterioration in childhood 95
Mild global developmental delay 14
Muscle Spasticity 195
Muscle hypotonia 571
Neurodevelopmental regression 95
Nystagmus 317
Opisthotonus 14
Optic Atrophy 242
Poor school performance 645
Psychomotor regression 95
Psychomotor regression beginning in infancy 95
Psychomotor regression in infants 95
Psychomotor regression, progressive 95
Psychomotor retardation, mild 14
Seizures 596
Sleep disturbances 37
Speech Delay 112
Speech impairment 112
hearing impairment 199
Disease Target Count Z-score Confidence
Carcinoma 11493 0.0 0.6
Disease Target Count Z-score Confidence
Globe disease 67 0.0 3.0
Disease Target Count Z-score Confidence
Leukodystrophy 55 0.0 4.0
Disease Target Count Z-score Confidence
Sialuria 9 3.088 1.5
Argininosuccinic aciduria 17 3.072 1.5

Expression

  Differential Expression (33)

Disease log2 FC p
active ulcerative colitis -1.898 1.4e-02
adrenocortical carcinoma -1.432 4.2e-03
adult high grade glioma -1.600 2.1e-02
astrocytoma -1.100 9.2e-05
Astrocytoma, Pilocytic -2.500 1.6e-06
Atopic dermatitis -1.400 6.2e-04
atypical teratoid / rhabdoid tumor -2.800 9.1e-08
Breast cancer -1.400 4.7e-02
breast carcinoma -1.400 2.3e-03
colon cancer -3.700 8.3e-06
Down syndrome 1.600 2.8e-03
ductal carcinoma in situ -2.900 7.6e-04
fibroadenoma -2.000 1.4e-02
glioblastoma -1.800 1.3e-03
group 3 medulloblastoma -3.400 1.9e-04
intraductal papillary-mucinous adenoma (... -1.600 2.2e-02
intraductal papillary-mucinous carcinoma... -2.700 3.8e-04
intraductal papillary-mucinous neoplasm ... -2.300 5.1e-03
invasive ductal carcinoma -3.500 8.3e-04
lung adenocarcinoma -1.700 1.5e-14
lung cancer -3.000 2.1e-05
lung carcinoma -1.800 1.3e-13
medulloblastoma, large-cell -2.900 9.4e-05
mucosa-associated lymphoid tissue lympho... 1.523 2.8e-02
non-small cell lung cancer -2.162 2.6e-33
oligodendroglioma -1.300 5.3e-05
osteosarcoma -2.692 1.5e-04
ovarian cancer -2.200 9.7e-10
Pick disease -1.200 8.4e-03
primitive neuroectodermal tumor -2.400 4.5e-04
progressive supranuclear palsy -2.500 5.6e-03
psoriasis -1.500 3.8e-07
urothelial carcinoma -2.500 6.4e-04

 OMIM Phenotype (1)

 GWAS Trait (1)

Protein-protein Interaction (2)

Gene RIF (19)

AA Sequence

MTSCHIAEEHIQKVAIFGGTHGNELTGVFLVKHWLENGAEIQRTGLEVKPFITNPRAVKKCTRYIDCDLN      1 - 70
RIFDLENLGKKMSEDLPYEVRRAQEINHLFGPKDSEDSYDIIFDLHNTTSNMGCTLILEDSRNNFLIQMF     71 - 140
HYIKTSLAPLPCYVYLIEHPSLKYATTRSIAKYPVGIEVGPQPQGVLRADILDQMRKMIKHALDFIHHFN    141 - 210
EGKEFPPCAIEVYKIIEKVDYPRDENGEIAAIIHPNLQDQDWKPLHPGDPMFLTLDGKTIPLGGDCTVYP    211 - 280
VFVNEAAYYEKKEAFAKTTKLTLNAKSIRCCLH                                         281 - 313
//

Text Mined References (45)

PMID Year Title