SASH1, SAM and SH3 domain containing 1, 23328

N. diseases: 67; N. variants: 26
Disease: Dyschromatosis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4552243
Disease: Dyschromatosis
Dyschromatosis 		0.120 Biomarker disease BEFREE Comparisons between clinical presentations showed that SASH1-related phenotypes can exhibit hyper- and hypopigmentation on the trunk and extremities, similar to dyschromatosis, while scattered café au-lait spots usually appeared in PTPN11-related LEOPARD syndrome. 27659786 2016
CUI: C4552243
Disease: Dyschromatosis
Dyschromatosis 		0.120 GeneticVariation disease BEFREE Following the identification of SASH1 heterozygous variants in dyschromatosis, we used reverse phenotyping to show that autosomal-recessive variants of this gene could be responsible for an overlapping but more complex phenotype that affected skin appendages. 25315659 2015
CUI: C4552243
Disease: Dyschromatosis
Dyschromatosis 		0.120 GeneticVariation disease CLINVAR