SPATA13, spermatogenesis associated 13, 221178

N. diseases: 15; N. variants: 5
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		0.010 Biomarker group BEFREE Corresponding tumour-derived DNA available from 5 of these 7 women had elevated methylation within the BRCA1 and SPHK2 promoter region and decreased methylation within the ADAP1, IGF2BP3 and SPATA13 promoter region when compared with the other breast tumours. 30423315 2018
CUI: C1337013
Disease: Differentiated Thyroid Gland Carcinoma
Differentiated Thyroid Gland Carcinoma 		0.010 GeneticVariation disease BEFREE A possible role in DTC susceptibility in the Italian populations was also found for rs13184587 (ARSB) (P = 8.54 × 10(-6)) and rs1220597 (SPATA13) (P = 3.25 × 10(-6)). 25029422 2014
CUI: C4722172
Disease: Primary differentiated carcinoma of thyroid gland
Primary differentiated carcinoma of thyroid gland 		0.010 GeneticVariation disease BEFREE A possible role in DTC susceptibility in the Italian populations was also found for rs13184587 (ARSB) (P = 8.54 × 10(-6)) and rs1220597 (SPATA13) (P = 3.25 × 10(-6)). 25029422 2014
CUI: C0001430
Disease: Adenoma
Adenoma 		0.010 AlteredExpression group BEFREE Here, we show that Asef and Asef2 expression is aberrantly enhanced in intestinal adenomas and tumours. 19893577 2009
CUI: C0178874
Disease: Tumor Progression
Tumor Progression 		0.010 Biomarker phenotype BEFREE These results suggest that Asef and Asef2 have a crucial role in intestinal adenoma formation and tumour progression, and might be promising molecular targets for the treatment of colorectal tumours. 19893577 2009
CUI: C1142339
Disease: Intestinal adenoma
Intestinal adenoma 		0.010 Biomarker disease BEFREE These results suggest that Asef and Asef2 have a crucial role in intestinal adenoma formation and tumour progression, and might be promising molecular targets for the treatment of colorectal tumours. 19893577 2009
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		0.010 GeneticVariation group LHGDN Furthermore, RNA interference experiments showed that Asef2 is required for migration of colorectal tumor cells expressing truncated APC. 17599059 2007
CUI: C0032580
Disease: Adenomatous Polyposis Coli
Adenomatous Polyposis Coli 		0.030 Biomarker disease BEFREE Loss of Spata13, also known as the adenomatous polyposis coli exchange factor Asef2, has no identifiable phenotype although it has been shown to reduce the number and size of intestinal tumours in Apc (Min/+) mice. 31020388 2019
CUI: C0032580
Disease: Adenomatous Polyposis Coli
Adenomatous Polyposis Coli 		0.030 Biomarker disease BEFREE We observed that the APC-Asef/Asef2 complex induces c-Jun amino-terminal kinase-mediated transactivation of matrix metalloproteinase 9, and is required for the invasive activity of colorectal tumour cells. 19893577 2009
CUI: C0032580
Disease: Adenomatous Polyposis Coli
Adenomatous Polyposis Coli 		0.030 Biomarker disease BEFREE Furthermore, RNA interference experiments showed that Asef2 is required for migration of colorectal tumor cells expressing truncated APC. 17599059 2007
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases 		0.100 GeneticVariation group GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C0020676
Disease: Hypothyroidism
Hypothyroidism 		0.100 GeneticVariation disease GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C3150797
Disease: AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 6
AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 6 		0.100 GeneticVariation disease GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C4014795
Disease: AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1
AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1 		0.100 GeneticVariation disease GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C4310768
Disease: AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2
AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2 		0.100 GeneticVariation disease GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C0202230
Disease: Thyroid stimulating hormone measurement
Thyroid stimulating hormone measurement 		0.100 GeneticVariation phenotype GWASCAT Genome-wide analyses identify a role for SLC17A4 and AADAT in thyroid hormone regulation. 30367059 2018
CUI: C0020676
Disease: Hypothyroidism
Hypothyroidism 		0.100 GeneticVariation disease GWASCAT Detection and interpretation of shared genetic influences on 42 human traits. 27182965 2016
CUI: C0035227
Disease: Respiratory Function Tests
Respiratory Function Tests 		0.100 GeneticVariation phenotype GWASCAT Genome-wide association studies identify CHRNA5/3 and HTR4 in the development of airflow obstruction. 22837378 2012
CUI: C0035227
Disease: Respiratory Function Tests
Respiratory Function Tests 		0.100 GeneticVariation phenotype GWASDB Genome-wide association studies identify CHRNA5/3 and HTR4 in the development of airflow obstruction. 22837378 2012