Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0014175
Disease: Endometriosis
Endometriosis 		0.300 Biomarker disease CTD_human Unique transcriptome, pathways, and networks in the human endometrial fibroblast response to progesterone in endometriosis. 20864642 2011
CUI: C0269102
Disease: Endometrioma
Endometrioma 		0.300 Biomarker disease CTD_human Unique transcriptome, pathways, and networks in the human endometrial fibroblast response to progesterone in endometriosis. 20864642 2011
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.100 GeneticVariation phenotype GWASCAT Co-regulatory networks of human serum proteins link genetics to disease. 30072576 2018
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.100 GeneticVariation phenotype GWASCAT Genomic atlas of the human plasma proteome. 29875488 2018
CUI: C0028064
Disease: Niemann-Pick Diseases
Niemann-Pick Diseases 		0.010 GeneticVariation group BEFREE Human sphingomyelinase phosphodiesterase like 3a (SMPDL3a) is a secreted enzyme that shares a conserved catalytic domain with human acid sphingomyelinase (aSMase), the enzyme carrying mutations causative of Niemann-Pick disease. 26783088 2016
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm 		0.010 AlteredExpression disease BEFREE ASML3a protein was also differentially expressed in 8 of 12 bladder tumors relative to corresponding normal urothelial tissue. 12442002 2002
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.010 Biomarker phenotype BEFREE It appears that DBCCR1 and ASML3a are involved in the process of bladder tumorigenesis. 12442002 2002