Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3151064
Disease: 46,XY SEX REVERSAL 6
46,XY SEX REVERSAL 6
0.700 GeneticVariation disease UNIPROT Mutations in MAP3K1 cause 46,XY disorders of sex development and implicate a common signal transduction pathway in human testis determination. 21129722 2010
CUI: C3151064
Disease: 46,XY SEX REVERSAL 6
46,XY SEX REVERSAL 6
0.700 Biomarker disease GENOMICS_ENGLAND 46,XY gonadal dysgenesis: evidence for autosomal dominant transmission in a large kindred. 12476449 2003
CUI: C3151064
Disease: 46,XY SEX REVERSAL 6
46,XY SEX REVERSAL 6
0.700 Biomarker disease CTD_human
CUI: C3151064
Disease: 46,XY SEX REVERSAL 6
46,XY SEX REVERSAL 6
0.700 GeneticVariation disease CLINVAR
CUI: C3151064
Disease: 46,XY SEX REVERSAL 6
46,XY SEX REVERSAL 6
0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C3151064
Disease: 46,XY SEX REVERSAL 6
46,XY SEX REVERSAL 6
0.700 CausalMutation disease CLINVAR
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.530 Biomarker group LHGDN We examined FGFR2 and MAP3K1 variants, breast tumor characteristics and hormone exposures in a population-based case-control sample of 1225 European-American (EA) and 584 African-American (AA) women. 19028704 2009
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.530 GeneticVariation group LHGDN Common breast cancer-predisposition alleles are associated with breast cancer risk in BRCA1 and BRCA2 mutation carriers. 18355772 2008
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.530 Biomarker group CTD_human Genome-wide association study identifies novel breast cancer susceptibility loci. 17529967 2007
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.530 GeneticVariation group LHGDN Clinical correlates of low-risk variants in FGFR2, TNRC9, MAP3K1, LSP1 and 8q24 in a Dutch cohort of incident breast cancer cases. 17997823 2007
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.530 CausalMutation group CGI
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.500 GeneticVariation disease BEFREE In axillary node-positive, HR+, and HER2- early BC, amplifications of FGFR1 gene were strongly associated with increased risk for distant disease, while mutations of MAP3K1 gene were significantly associated with decreased risk. 31620934 2020
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.500 GeneticVariation disease BEFREE Significant association with BC was confirmed in 2 SNPs: rs2981582 FGFR2 and rs889312 MAP3K1, and the odds ratios of homozygotes with two risk alleles in both SNP's were higher than in heterozygotes with one mutant allele, as follows: FGFR2 TT: 1.953 (95%CI 1.014-3.834, p = 0.049), CT 1.771 (95%CI 1.088-2.899, p = 0.026) and MAP3K1 CC 2.894 (95%CI 1.028-9.566, p = 0.048), AC 1.760 (95%CI 1.108-2.813, p = 0.019). 31002855 2019
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.500 Biomarker disease BEFREE To determine the role of the MEKK1/SEK1/JNK1/AP-1 pathway in the action of Xihuang pill (XHP) in reducing regulatory T (Treg) cell numbers in the tumor microenvironment in a 4T1 mouse breast cancer model, and to clarify the anti-tumor mechanism of XHP in breast cancer. 29710529 2018
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.500 Biomarker disease BEFREE Polymorphisms of ESR1, UGT1A1, HCN1, MAP3K1 and CYP2B6 are associated with the prognosis of hormone receptor-positive early breast cancer. 28178648 2017
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.500 GeneticVariation disease BEFREE Two of these SNVs, rs252913 and rs331499, located in the MAP3K1/SETD9 gene boundary, were confirmed to be associated with somatic PIK3CA variants in the large cohort with OR 2.97 (1.17-7.75) and 1.76 (1.11-2.77), respectively, notably higher than their BC risk-associated values, both around 1.1. 28029147 2017
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.500 GeneticVariation disease BEFREE We have revealed significant association of FGFR2 and MAP3K1 polymorphisms with breast cancer. 29372690 2017
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.500 GeneticVariation disease BEFREE BC patients (n = 1687) randomly sampled in an adjuvant, randomized phase III trial (SUCCESS A study) were genotyped for nine BC risk SNPs: rs17468277 <i>(CASP8)</i> , rs2981582 <i>(FGFR2)</i> , rs13281615(8q24), rs3817198 <i>(LSP1)</i> , rs889312 <i>(MAP3K1)</i> , rs3803662 <i>(TOX3)</i> , rs13387042(2q35), rs4973768 <i>(SLC4A7)</i> , rs6504950 <i>(COX11)</i> . 28757652 2017
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.500 Biomarker disease BEFREE Our results indicate that miR-302 cooperatively sensitizes breast cancer cells to adriamycin via suppressing P-glycoprotein by targeting MEKK1 of ERK pathway. miR-302 gene cluster may be a potential target for reversing P-gp-mediated chemoresistance in breast cancer. 26842910 2016
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.500 GeneticVariation disease BEFREE The genotype of rs2046210 (6q25.1), rs2981582 (EGFR2), rs889312 (MAP3K1), and rs3803662 (TOX3/TNRC9) has no statistical differences in different subtypes of breast cancer. 26803517 2016
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.500 GeneticVariation disease BEFREE A case‑control study (90‑100 cases; 90‑100 controls) was performed to evaluate five genetic variants of three genes, including FGFR2 (SNPs: rs1219648, rs2981582), TNRC9 (SNPs: rs8051542, rs3803662) and MAP3K1 (SNP: rs889312) as BC risk factors in Pakistani women. 27572905 2016
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.500 AlteredExpression disease BEFREE We propose that the cancer risk alleles act to increase MAP3K1 expression in vivo and might promote breast cancer cell survival. 25529635 2015
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.500 Biomarker disease BEFREE Single-SNP tests for SNPs with pairwise linkage disequilibrium r (2) < 0.8 in the top genes identified 12 common SNPs (in CALM2, CETP, NR0B1, IGF2R, CYP1B1, PGR, MAPK3, and MAP3K1) associated with overall or subtype-specific breast cancer after gene-level correction for multiple testing. 26458823 2015
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.500 GeneticVariation disease BEFREE Genome-wide association studies (GWAS) have demonstrated that the single nucleotide polymorphism (SNP) MAP3K1 rs889312 is a genetic susceptibility marker significantly associated with a risk of hormone-related tumors such as breast cancer. 24759887 2014
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.500 GeneticVariation disease BEFREE SNPs in the mitochondrial ribosomal protein S30 gene (MRPS30), mitogen-activated protein kinase kinase kinase 1 gene (MAP3K1), zinc finger, MIZ-type containing 1 gene (ZMIZ1), and H19, imprinted maternally expressed transcript gene (H19) were associated with breast cancer in whites, and SNPs in the estrogen receptor 1 gene (ESR1) and H19 gene were associated with breast cancer in African Americans. 24218030 2014