Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 128
Gene Symbol: ADH5
ADH5
0.060 GeneticVariation disease BEFREE The search terms we used were "SJOGREN-LARSSON SYNDROME" AND "HYPERMELANNOSIS" OR "FALDH" (from 1985). 31697031 2019
Entrez Id: 128
Gene Symbol: ADH5
ADH5
0.060 Biomarker disease BEFREE Nevertheless, studies in SLS highlight the critical importance of FALDH and normal fatty aldehyde/alcohol metabolism for epidermal function. 24036493 2014
Entrez Id: 128
Gene Symbol: ADH5
ADH5
0.060 Biomarker disease BEFREE Bezafibrate induces FALDH in human fibroblasts; implications for Sjögren-Larsson syndrome. 16837225 2006
Entrez Id: 128
Gene Symbol: ADH5
ADH5
0.060 GeneticVariation disease BEFREE Spectrum of mutations and sequence variants in the FALDH gene in patients with Sjögren-Larsson syndrome. 9829906 1998
Entrez Id: 128
Gene Symbol: ADH5
ADH5
0.060 GeneticVariation disease BEFREE A missense mutation in the FALDH gene identified in Sjögren-Larsson syndrome patients originating from the northern part of Sweden. 9254849 1997
Entrez Id: 128
Gene Symbol: ADH5
ADH5
0.060 AlteredExpression disease BEFREE FALDH activity (nmol min-1 (mg protein)-1) in normal controls was 8.54 +/- 1.16 (mean +/- SD; range 6.95-10.77; n = 12) and in SLS heterozygotes was 5.12 +/- 1.31 (range 3.28-6.96; n = 11), or 60 +/- 15% of mean normal activity. 1583866 1992