SASH1, SAM and SH3 domain containing 1, 23328

N. diseases: 67; N. variants: 26
Disease: Dyschromatosis Universalis Hereditaria 1 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2675711
Disease: Dyschromatosis Universalis Hereditaria 1
Dyschromatosis Universalis Hereditaria 1 		0.700 GeneticVariation disease UNIPROT Novel mutations in SASH1 associated with dyschromatosis universalis hereditaria. 29956681 2020
CUI: C2675711
Disease: Dyschromatosis Universalis Hereditaria 1
Dyschromatosis Universalis Hereditaria 1 		0.700 GeneticVariation disease UNIPROT A novel P53/POMC/Gαs/SASH1 autoregulatory feedback loop activates mutated SASH1 to cause pathologic hyperpigmentation. 27885802 2017
CUI: C2675711
Disease: Dyschromatosis Universalis Hereditaria 1
Dyschromatosis Universalis Hereditaria 1 		0.700 GeneticVariation disease UNIPROT A Novel De novo Mutation of the SASH1 Gene in a Chinese Family with Multiple Lentigines. 27840890 2017
CUI: C2675711
Disease: Dyschromatosis Universalis Hereditaria 1
Dyschromatosis Universalis Hereditaria 1 		0.700 GeneticVariation disease UNIPROT Lentiginous phenotypes caused by diverse pathogenic genes (SASH1 and PTPN11): clinical and molecular discrimination. 27659786 2016
CUI: C2675711
Disease: Dyschromatosis Universalis Hereditaria 1
Dyschromatosis Universalis Hereditaria 1 		0.700 Biomarker disease GENOMICS_ENGLAND Lentiginous phenotypes caused by diverse pathogenic genes (SASH1 and PTPN11): clinical and molecular discrimination. 27659786 2016
CUI: C2675711
Disease: Dyschromatosis Universalis Hereditaria 1
Dyschromatosis Universalis Hereditaria 1 		0.700 GeneticVariation disease UNIPROT SASH1 Is Involved in an Autosomal Dominant Lentiginous Phenotype. 26203640 2015
CUI: C2675711
Disease: Dyschromatosis Universalis Hereditaria 1
Dyschromatosis Universalis Hereditaria 1 		0.700 GeneticVariation disease UNIPROT SASH1 regulates melanocyte transepithelial migration through a novel Gαs-SASH1-IQGAP1-E-Cadherin dependent pathway. 23333244 2013
CUI: C2675711
Disease: Dyschromatosis Universalis Hereditaria 1
Dyschromatosis Universalis Hereditaria 1 		0.700 Biomarker disease CTD_human
CUI: C2675711
Disease: Dyschromatosis Universalis Hereditaria 1
Dyschromatosis Universalis Hereditaria 1 		0.700 CausalMutation disease CLINVAR