Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0010093
Disease: Corpus Luteum Cyst
Corpus Luteum Cyst 		0.300 Biomarker disease CTD_human New insights into the pathogenesis of cystic follicles in cattle: microarray analysis of gene expression in granulosa cells. 21239663 2011
CUI: C0029927
Disease: Ovarian Cysts
Ovarian Cysts 		0.300 Biomarker disease CTD_human New insights into the pathogenesis of cystic follicles in cattle: microarray analysis of gene expression in granulosa cells. 21239663 2011
CUI: C0013595
Disease: Eczema
Eczema 		0.100 GeneticVariation disease 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: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		0.010 Biomarker disease BEFREE In further whole-exome-sequencing analysis using the patient's blood DNA, which was followed by a comparison analysis with the results of our previously reported genome-wide association study (GWAS) of HSCR, three genes (ZNF827, FGD2, and KCNJ12) with significance for HSCR from our previous GWAS were overlapped among the genes showing variants in the exome sequencing.ConclusionThis is the first reported patient with SoS and HSCR. 28399120 2017
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases 		0.010 GeneticVariation group BEFREE To investigate these subtype-specific changes in detail we determined the expression levels of seven splicing factors (DUSP11, HNRPAB, HNRPH3, SLU7, SFR2IP, SFPQ, SF3B14) and three intron retention events (PARC, IER3, FGD2) in a cohort of 165 patients with inflammatory diseases of the colon (120 with IBD) and 30 healthy controls by real time PCR (TaqMan). 21324547 2011