Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1096202
Disease: Lipoprotein (a) measurement
Lipoprotein (a) measurement
0.100 GeneticVariation phenotype GWASCAT A genome-wide association meta-analysis on lipoprotein (a) concentrations adjusted for apolipoprotein (a) isoforms. 28512139 2017
CUI: C1096202
Disease: Lipoprotein (a) measurement
Lipoprotein (a) measurement
0.100 GeneticVariation phenotype GWASCAT Evidence for several independent genetic variants affecting lipoprotein (a) cholesterol levels. 25575512 2015
Malignant neoplasm of urinary bladder
0.010 AlteredExpression disease BEFREE In RNA-sequencing analysis, expression levels of basal cell markers (CK5 and DSG3) and several novel genes (MMP28, CTSE, CNN3, TFPI2, COL17A1, and AGPAT4) were upregulated in BC organoids compared with normal bladder tissues or two-dimensional (2D) BC cell lines. 31254429 2019
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm
0.010 AlteredExpression disease BEFREE In RNA-sequencing analysis, expression levels of basal cell markers (CK5 and DSG3) and several novel genes (MMP28, CTSE, CNN3, TFPI2, COL17A1, and AGPAT4) were upregulated in BC organoids compared with normal bladder tissues or two-dimensional (2D) BC cell lines. 31254429 2019
CUI: C0008073
Disease: Developmental Disabilities
Developmental Disabilities
0.010 GeneticVariation group BEFREE We also identify a deletion overlapping KDM3B and a duplication overlapping MAP3K4 and AGPAT4, both overlapping variants previously reported in developmental disorders. 31694657 2019
CUI: C0699885
Disease: Carcinoma of bladder
Carcinoma of bladder
0.010 AlteredExpression disease BEFREE In RNA-sequencing analysis, expression levels of basal cell markers (CK5 and DSG3) and several novel genes (MMP28, CTSE, CNN3, TFPI2, COL17A1, and AGPAT4) were upregulated in BC organoids compared with normal bladder tissues or two-dimensional (2D) BC cell lines. 31254429 2019