SIAH1, siah E3 ubiquitin protein ligase 1, 6477

N. diseases: 54; N. variants: 2
Disease: Conn Syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1384514
Disease: Conn Syndrome
Conn Syndrome 		0.010 GeneticVariation disease BEFREE In addition, SIAH1 sequence variants were identified in patients with PA; such variants impaired SIAH1 ubiquitin ligase activity, resulting in elevated PIAS1 expression. 29212953 2017