Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1334807
Disease: Mucinous carcinoma of breast
Mucinous carcinoma of breast
0.300 GeneticVariation disease UNIPROT
CUI: C1335167
Disease: Ovarian Mucinous Adenocarcinoma
Ovarian Mucinous Adenocarcinoma
0.300 GeneticVariation disease UNIPROT
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.110 GeneticVariation disease GWASCAT Association analysis identifies 65 new breast cancer risk loci. 29059683 2017
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.110 Biomarker disease BEFREE MAST2 and NOTCH1 translocations in breast carcinoma and associated pre-invasive lesions. 24140425 2013
CUI: C0005890
Disease: Body Height
Body Height
0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement
0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure
0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C1305855
Disease: Body mass index
Body mass index
0.100 GeneticVariation phenotype GWASCAT Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry. 30239722 2019
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement
0.100 GeneticVariation phenotype GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
CUI: C0200633
Disease: Neutrophil count (procedure)
Neutrophil count (procedure)
0.100 GeneticVariation phenotype GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
CUI: C0200641
Disease: Blood basophil count (lab test)
Blood basophil count (lab test)
0.100 GeneticVariation phenotype GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
CUI: C0206161
Disease: Reticulocyte count (procedure)
Reticulocyte count (procedure)
0.100 GeneticVariation phenotype GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
CUI: C0857490
Disease: Granulocyte count
Granulocyte count
0.100 GeneticVariation phenotype GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
CUI: C1305855
Disease: Body mass index
Body mass index
0.100 GeneticVariation phenotype GWASCAT The Influence of Age and Sex on Genetic Associations with Adult Body Size and Shape: A Large-Scale Genome-Wide Interaction Study. 26426971 2015
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders
0.010 Biomarker group BEFREE In summary, our findings indicate that virus-derived peptides targeted to MAST2-PDZ stimulate neurite outgrowth in several neuron types, opening up promising avenues for potentially using NVs in the management of neurodegenerative diseases. 31346033 2019
CUI: C0154084
Disease: Stage 0 Breast Carcinoma
Stage 0 Breast Carcinoma
0.010 GeneticVariation disease BEFREE ACVR2A-rs2382112 (OR<sub>hom</sub>  = 3.05, 95%CI = 1.72-5.44, P<sub>hom</sub>  = 1.47 × 10<sup>-4</sup> ), MAST2-rs12124649 (OR<sub>hom</sub>  = 1.73, 95% CI =1.18-2.54, P<sub>hom</sub>  = 5.24 × 10<sup>-3</sup> ), and INSR-rs10500204 (OR<sub>hom</sub>  = 1.96, 95% CI = 1.44-2.67, P<sub>hom</sub> =1.68 × 10<sup>-5</sup> ) were associated with increased risk of BCIS; however, only the latter association was significant after correcting for multiple testing. 29114882 2018
Stage 0 Breast Cancer AJCC v6 and v7
0.010 GeneticVariation disease BEFREE ACVR2A-rs2382112 (OR<sub>hom</sub>  = 3.05, 95%CI = 1.72-5.44, P<sub>hom</sub>  = 1.47 × 10<sup>-4</sup> ), MAST2-rs12124649 (OR<sub>hom</sub>  = 1.73, 95% CI =1.18-2.54, P<sub>hom</sub>  = 5.24 × 10<sup>-3</sup> ), and INSR-rs10500204 (OR<sub>hom</sub>  = 1.96, 95% CI = 1.44-2.67, P<sub>hom</sub> =1.68 × 10<sup>-5</sup> ) were associated with increased risk of BCIS; however, only the latter association was significant after correcting for multiple testing. 29114882 2018
CUI: C0014070
Disease: Encephalomyelitis
Encephalomyelitis
0.010 AlteredExpression disease BEFREE Upregulation of Cul9, Mast2, and C4b expression is significantly higher in HFD-EAE mice than ND-EAE mice. 27956064 2017
CUI: C1847540
Disease: Azoospermia, Nonobstructive
Azoospermia, Nonobstructive
0.010 Biomarker disease BEFREE A Screen for Genomic Disorders of Infertility Identifies MAST2 Duplications Associated with Nonobstructive Azoospermia in Humans. 26203179 2015
CUI: C0017636
Disease: Glioblastoma
Glioblastoma
0.010 AlteredExpression disease BEFREE Using a subcutaneous xenograft mouse model, we also demonstrated that glioblastoma tumor growth requires MAST2 expression. 23717670 2013
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.010 AlteredExpression group BEFREE Using a subcutaneous xenograft mouse model, we also demonstrated that glioblastoma tumor growth requires MAST2 expression. 23717670 2013
CUI: C0278878
Disease: Adult Glioblastoma
Adult Glioblastoma
0.010 AlteredExpression disease BEFREE Using a subcutaneous xenograft mouse model, we also demonstrated that glioblastoma tumor growth requires MAST2 expression. 23717670 2013
CUI: C0280474
Disease: Childhood Glioblastoma
Childhood Glioblastoma
0.010 AlteredExpression disease BEFREE Using a subcutaneous xenograft mouse model, we also demonstrated that glioblastoma tumor growth requires MAST2 expression. 23717670 2013
CUI: C1334274
Disease: Invasive Carcinoma
Invasive Carcinoma
0.010 GeneticVariation phenotype BEFREE Translocations were identified in 16 cases of invasive carcinoma; 10 with MAST2 translocations (2.0%) and 6 cases with NOTCH1 translocations (1.2%). 24140425 2013
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme
0.010 AlteredExpression disease BEFREE Using a subcutaneous xenograft mouse model, we also demonstrated that glioblastoma tumor growth requires MAST2 expression. 23717670 2013