Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
0.010 GeneticVariation phenotype BEFREE Overexpression of the most common progeroid lamin A mutation (LMNA c.1824C>T, p.G608G) during skin development results in a severe phenotype, characterized by dry scaly skin. 24305605 2014
Entrez Id: 26154
Gene Symbol: ABCA12
ABCA12
0.010 GeneticVariation phenotype BEFREE Biallelic loss of function of the ABCA12 gene is causative of some forms of recessive congenital ichthyosis, an intractable disease marked by dry, thickened and scaly skin on the whole body. 25338618 2014
Entrez Id: 341
Gene Symbol: APOC1
APOC1
0.010 Biomarker phenotype BEFREE In addition to hyperlipidemia, APOC1 transgenic mice developed dry and scaly skin with loss of hair, dependent on the amount of APOC1 expression in the skin. 9421476 1998
Entrez Id: 412
Gene Symbol: STS
STS
0.010 AlteredExpression phenotype BEFREE Absence of STS enzymatic activity occurs frequently in human populations and produces a visible phenotype of scaly skin or ichthyosis. 3032454 1987