Property Summary

NCBI Gene PubMed Count 31
PubMed Score 8.18
PubTator Score 11.18

Knowledge Summary

Patent (985)

Expression

  Differential Expression (1)

Disease log2 FC p
medulloblastoma, large-cell 1.300 0.005

Gene RIF (21)

PMID Text
20583128 Observational study of gene-disease association. (HuGE Navigator)
20468064 Observational study of gene-disease association. (HuGE Navigator)
20436377 Observational study of gene-disease association. (HuGE Navigator)
20398908 Observational study of gene-disease association. (HuGE Navigator)
20379614 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
19874574 Observational study of gene-disease association. (HuGE Navigator)
19736351 Observational study of gene-disease association. (HuGE Navigator)
19727025 suggestive evidence was found for association between rs8036270 in the GABRG3 gene and exercise participation
19727025 Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
19598235 Observational study of gene-disease association. (HuGE Navigator)
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AA Sequence

MAPKLLLLLCLFSGLHARSRKVEEDEYEDSSSNQKWVLAPKSQDTDVTLILNKLLREYDKKLRPDIGIKP      1 - 70
TVIDVDIYVNSIGPVSSINMEYQIDIFFAQTWTDSRLRFNSTMKILTLNSNMVGLIWIPDTIFRNSKTAE     71 - 140
AHWITTPNQLLRIWNDGKILYTLRLTINAECQLQLHNFPMDEHSCPLIFSSYGYPKEEMIYRWRKNSVEA    141 - 210
ADQKSWRLYQFDFMGLRNTTEIVTTSAGDYVVMTIYFELSRRMGYFTIQTYIPCILTVVLSWVSFWIKKD    211 - 280
ATPARTALGITTVLTMTTLSTIARKSLPRVSYVTAMDLFVTVCFLFVFAALMEYATLNYYSSCRKPTTTK    281 - 350
KTTSLLHPDSSRWIPERISLQAPSNYSLLDMRPPPTAMITLNNSVYWQEFEDTCVYECLDGKDCQSFFCC    351 - 420
YEECKSGSWRKGRIHIDILELDSYSRVFFPTSFLLFNLVYWVGYLYL                           421 - 467
//

Text Mined References (34)

PMID Year Title
26566883 2016 Homozygous missense mutation in the LMAN2L gene segregates with intellectual disability in a large consanguineous Pakistani family.
24709693 2014 Genome-wide data reveal novel genes for methotrexate response in a large cohort of juvenile idiopathic arthritis cases.
23535033 2014 Genome-wide association study of the rate of cognitive decline in Alzheimer's disease.
22969067 2012 Genetic variants near PDGFRA are associated with corneal curvature in Australians.
20583128 2010 Variation at the GABAA receptor gene, Rho 1 (GABRR1) associated with susceptibility to bipolar schizoaffective disorder.
20468064 2010 Association study of 182 candidate genes in anorexia nervosa.
20436377 2010 Polymorphisms of candidate genes in Slovak autistic patients.
20398908 2010 Comprehensive copy number variant (CNV) analysis of neuronal pathways genes in psychiatric disorders identifies rare variants within patients.
20379614 Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
19874574 2009 Genetical genomic determinants of alcohol consumption in rats and humans.
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