Source: UNIPROT

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 23328
Gene Symbol: SASH1
SASH1
CUI: C2675711
Disease: Dyschromatosis Universalis Hereditaria 1
Dyschromatosis Universalis Hereditaria 1 		0.700 GeneticVariation UNIPROT Novel mutations in SASH1 associated with dyschromatosis universalis hereditaria. 29956681

2020
Entrez Id: 23328
Gene Symbol: SASH1
SASH1
CUI: C2675711
Disease: Dyschromatosis Universalis Hereditaria 1
Dyschromatosis Universalis Hereditaria 1 		0.700 GeneticVariation UNIPROT A novel P53/POMC/Gαs/SASH1 autoregulatory feedback loop activates mutated SASH1 to cause pathologic hyperpigmentation. 27885802

2017
Entrez Id: 23328
Gene Symbol: SASH1
SASH1
CUI: C2675711
Disease: Dyschromatosis Universalis Hereditaria 1
Dyschromatosis Universalis Hereditaria 1 		0.700 GeneticVariation UNIPROT A Novel De novo Mutation of the SASH1 Gene in a Chinese Family with Multiple Lentigines. 27840890

2017
Entrez Id: 23328
Gene Symbol: SASH1
SASH1
CUI: C2675711
Disease: Dyschromatosis Universalis Hereditaria 1
Dyschromatosis Universalis Hereditaria 1 		0.700 GeneticVariation UNIPROT Lentiginous phenotypes caused by diverse pathogenic genes (SASH1 and PTPN11): clinical and molecular discrimination. 27659786

2016
Entrez Id: 23328
Gene Symbol: SASH1
SASH1
CUI: C2675711
Disease: Dyschromatosis Universalis Hereditaria 1
Dyschromatosis Universalis Hereditaria 1 		0.700 GeneticVariation UNIPROT SASH1 Is Involved in an Autosomal Dominant Lentiginous Phenotype. 26203640

2015
Entrez Id: 23328
Gene Symbol: SASH1
SASH1
CUI: C2675711
Disease: Dyschromatosis Universalis Hereditaria 1
Dyschromatosis Universalis Hereditaria 1 		0.700 GeneticVariation UNIPROT SASH1 regulates melanocyte transepithelial migration through a novel Gαs-SASH1-IQGAP1-E-Cadherin dependent pathway. 23333244

2013