Property Summary

NCBI Gene PubMed Count 1,337
Grant Count 32
R01 Count 12
Funding $7,974,624.2
PubMed Score 256.47
PubTator Score 486.31

Knowledge Summary

Patent

No data available

TINX Plot

  Disease Relevance (59)

Disease Z-score Confidence
diabetes mellitus 1,663 4.695 2.3
Hypersensitivity reaction type II diseas... 235  4.355 2.2
Narcolepsy 58 4.213 2.1
Kleine-Levin syndrome 5 4.024 2.0
Collagen disease 25 3.193 1.6
Geographic tongue 5 3.081 1.5
Angioedema 36
Asthma 349
Bullous pemphigoid 17
Celiac disease 112 5.0
Creutzfeldt-Jakob disease 19
Diabetes Mellitus, Insulin-Dependent 76
Drug Eruptions 18
Drug-Induced Liver Injury 118
Duchenne muscular dystrophy 602
Esophageal Achalasia 2
Hypersensitivity 63
IGA Glomerulonephritis 454
Juvenile rheumatoid arthritis 104 5.0
Multiple Sclerosis 498
Narcolepsy-Cataplexy Syndrome 9
Primary achalasia 3
Systemic scleroderma 66
Type 1 diabetes mellitus 101 5.0
Urticaria 53
Waldenstrons macroglobulinemia 765
active Crohn's disease 918
active ulcerative colitis 477
astrocytoma 1,493
atypical teratoid/rhabdoid tumor 1,095
breast carcinoma 1,614
colon cancer 1,475
cystic fibrosis 1,665
ductal carcinoma in situ 1,745
esophageal adenocarcinoma 737
glioblastoma 5,572
group 4 medulloblastoma 1,875
interstitial cystitis 2,299
intraductal papillary-mucinous adenoma (... 2,956 
intraductal papillary-mucinous carcinoma... 2,988 
intraductal papillary-mucinous neoplasm ... 3,289 
invasive ductal carcinoma 2,950
juvenile dermatomyositis 1,189
limb girdle muscular dystrophy 2I 56
lung cancer 4,466
lung carcinoma 2,844
medulloblastoma, large-cell 6,234
nephrosclerosis 329
non-small cell lung cancer 2,798
ovarian cancer 8,484
pancreatic cancer 2,300
pancreatic carcinoma 567
pilocytic astrocytoma 3,086
pituitary cancer 1,972
primary Sjogren syndrome 789
primary pancreatic ductal adenocarcinoma 1,271
subependymal giant cell astrocytoma 2,287
tuberculosis 1,557
type I diabetes mellitus 22

Expression

Gene

PDB

1UVQ   1JK8   4GG6   4OZF   4OZG   4OZH   4OZI   1NBN   1S9V   2NNA  

Gene RIF (1432)

PMID Text
27049564 This study findings indicate a possibly increased prevalence of neuromyelitis optica in Muslim Arabs in Israel with distinct (positive and negative) HLA associations.
26829741 HLA-DQB1*03:03 allele is predisposing factor for unexplained recurrent spontaneous abortion.
26818121 HLA-DQA1*0102 and HLA-DQB1*0201 alleles may be involved in the production of anti-beta2-glycoprotein I antibody in recurrent miscarriage patients.
26744784 The results of this study confirm that HLA-DQB1 alleles, genotypes and haplotypes are associated with MS risk in the Slovak population.
26681219 HLA-DQB1*0325 and HLA-DQB1*0332 probably act as cervical cancer susceptibility genes in Uyghur women from Xinjiang; HLA-DQB1*0317 and HLA-DQB1*040302 may be protective genes
26671138 DRB1*04 (DR4) (41/214 vs 42/400, Pc = 0.042, OR = 2.02, 95% CI 1.27-3.22) and DQB1*0302 (35/214 vs 32/400, Pc = 0.014, OR = 2.25, 95% CI 1.35-3.75) had significant positive association with AChR MG compared to controls, and
26476208 genetic polymorphism influences the clinical course of red blood cells transfusion in patients with sickle cell disease
26443252 distribution of HLA-DQB1*0602 was not statistically different among multiple sclerosis patients and controls in Khuzestan Province, Iran
26398634 DQ7 (presence of DQB1*0301/0304 (DRB1*11/12/X) alleles) represents an additive or independent celiac disease risk haplotype.
26362370 Pharmacoresistant temporal lobe epilepsy associated with mesial hippocampal sclerosis is not determined by HLA class II alleles in the DRB1, DQB1, and DQA1 regions but the HLA DRB1*1302 allele exhibited a tendency to behave as a susceptibility factor
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AA Sequence

MSWKKALRIPGGLRAATVTLMLAMLSTPVAEGRDSPEDFVYQFKAMCYFTNGTERVRYVTRYIYNREEYA      1 - 70
RFDSDVEVYRAVTPLGPPDAEYWNSQKEVLERTRAELDTVCRHNYQLELRTTLQRRVEPTVTISPSRTEA     71 - 140
LNHHNLLVCSVTDFYPAQIKVRWFRNDQEETTGVVSTPLIRNGDWTFQILVMLEMTPQHGDVYTCHVEHP    141 - 210
SLQNPITVEWRAQSESAQSKMLSGIGGFVLGLIFLGLGLIIHHRSQKGLLH                       211 - 261
//

Text Mined References (1362)

PMID Year Title
27049564 2016 Increased occurrence of anti-AQP4 seropositivity and unique HLA Class II associations with neuromyelitis optica (NMO), among Muslim Arabs in Israel.
26829741 2016 [Analysis of the association of human leukocyte antigen DQ gene polymorphisms with unexplained recurrent spontaneous abortion among ethnic Han Chinese from Wenzhou region].
26818121 2016 Association of HLA-DQ alleles with the presence of an anti-?2-glycoprotein I antibody in patients with recurrent miscarriage.
26744784 2015 The association of HLA-DRB1 and HLA-DQB1 alleles with genetic susceptibility to multiple sclerosis in the Slovak population.
26681219 2015 Analysis of HLA-DQB1 allele polymorphisms in Uyghur women with cervical cancer.
26671138 2015 Association of HLA class II (DRB1, DQA1, DQB1) alleles and haplotypes with myasthenia gravis and its subgroups in the Iranian population.
26476208 2016 Protective effect of HLA-DQB1 alleles against alloimmunization in patients with sickle cell disease.
26443252 2015 Analysis of HLA-DQB1*0602 in Multiple Sclerosis Patients in Khuzestan Province, Iran.
26398634 2015 High Frequency of Haplotype HLA-DQ7 in Celiac Disease Patients from South Italy: Retrospective Evaluation of 5,535 Subjects at Risk of Celiac Disease.
26362370 2015 Genetic association study of the HLA class II alleles DRB1, DQA1, and DQB1 in patients with pharmacoresistant temporal lobe epilepsy associated with mesial hippocampal sclerosis.
More...