Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.100 GeneticVariation disease GWASCAT Genome-wide association study of schizophrenia in Ashkenazi Jews. 26198764 2015
CUI: C0022595
Disease: Keratosis Follicularis
Keratosis Follicularis 		0.100 GeneticVariation disease CLINVAR
CUI: C0042798
Disease: Low Vision
Low Vision 		0.100 GeneticVariation disease CLINVAR
CUI: C0152427
Disease: Polydactyly
Polydactyly 		0.100 GeneticVariation disease CLINVAR
CUI: C0220726
Disease: Diastrophic dysplasia
Diastrophic dysplasia 		0.100 GeneticVariation disease CLINVAR
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.100 GeneticVariation disease CLINVAR
CUI: C4054546
Disease: Melanocortin 4 Receptor Deficiency
Melanocortin 4 Receptor Deficiency 		0.100 GeneticVariation phenotype CLINVAR
CUI: C0494165
Disease: Secondary malignant neoplasm of liver
Secondary malignant neoplasm of liver 		0.010 Biomarker disease BEFREE Up-regulated genes of SLC10A1, MAPT, SHANK2, PTH1R, and C2, as well as down-regulated genes of CAB39, CFLAR, CTSC, THBS1, and TRAPPC3 were associated with both miRNA and DNA methylation, which might become promising biomarker of colorectal liver metastasis in future. 30604369 2019
CUI: C1998028
Disease: Photoreceptor degeneration
Photoreceptor degeneration 		0.010 Biomarker disease BEFREE Expression of BET2, but not BET3 and BET4, was significantly elevated during photoreceptor degeneration at postnatal day (PN)24 in retinas of rd10 mice relative to age-matched wild-type controls. siRNA knockdown of BET2 but not BET4, and the inhibitor of Brom2 (RVX208) but not of Brom1 (Olinone), decreased microglial activation. 28103888 2017