Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2745948
Disease: Hyalinosis, Systemic
Hyalinosis, Systemic
0.010 GeneticVariation disease BEFREE Grade 2 or higher HFS was associated with 300 DNA variants at genome-wide significance (P < 5 × 10-8), including a novel DPYD variant (rs75267292; P = 1.57 × 10-10), and variants in the MACF1 (rs183324967, P = 4.80 × 10-11; rs148221738, P = 5.73 × 10-10) and SPRY2 (rs117876855, P < 1.01 × 10-8; rs139544515, P = 1.30 × 10-8) genes involved in wound healing. 28715540 2017