PMID 23422942 2013 Disruption of EXOC6B in a patient with developmental delay, epilepsy, and a de novo balanced t(2;8) translocation.
rs6066181 in
EYA2 gene and
Eczema
PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
rs2070901 in
FCER1G gene and
Eczema
PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
rs831497 in
FGD2 gene and
Eczema
PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
rs558269137 in
FLG;FLG-AS1 gene and
Eczema
PMID 16444271 2006 Loss-of-function mutations in the gene encoding filaggrin cause ichthyosis vulgaris.