Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0023895
Disease: Liver diseases
Liver diseases 		0.010 GeneticVariation group BEFREE Variations in several important genes, including SEC22B, FLG, ZNF717, MUC4, TRIL, CTAGE4, FOXG1, LOC100287399, KRTAP1-3, and LRRC37A3, were surveyed by alignment analysis.The results present new evidence that mutations in 11 genes may be associated with characteristic clinical growth retardation, intellectual disability, joint contracture, and hepatopathy. 30431579 2018
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1 		0.010 Biomarker disease BEFREE The novel NF1 microdeletions reported here provide further evidence for the unusually high recombinogenic potential of LRRC37-containing LCRs in the human genome. 20506354 2010