KLHL24, kelch like family member 24, 54800

N. diseases: 17; N. variants: 4
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.010 AlteredExpression group BEFREE Cardiomyopathy with lethal arrhythmias associated with inactivation of KLHL24. 30715372 2019
CUI: C0011175
Disease: Dehydration
Dehydration 		0.010 Biomarker phenotype BEFREE MaRAP2-4 interacted with multiple cis-elements like dehydration response elements (DRE1/2), anoxia/jasmonic acid response element (JARE) and GCC box showing its involvement in multiple responses. 28636266 2018
CUI: C0014527
Disease: Epidermolysis Bullosa
Epidermolysis Bullosa 		0.010 GeneticVariation disease BEFREE We have identified start-codon mutations in the KLHL24 gene in five patients with EB. 27798626 2016