LOXL1, lysyl oxidase like 1, 4016

N. diseases: 93; N. variants: 27
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0010495
Disease: Cutis Laxa
Cutis Laxa
0.020 PosttranslationalModification disease BEFREE Several evidences of LOXL1 epigenetic silencing by promoter methylation were reported in cancer and cutis laxa syndrome. 27396912 2017
CUI: C0010495
Disease: Cutis Laxa
Cutis Laxa
0.020 AlteredExpression disease BEFREE It is not yet known whether LOXL1 gene expression is affected in all cases of cutis laxa arising from fibulin-5 mutation. 20613779 2010