STOM, stomatin, 2040

N. diseases: 39; N. variants: 1
Disease: Pseudohyperkalemia Cardiff ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1861453
Disease: Pseudohyperkalemia Cardiff
Pseudohyperkalemia Cardiff 		0.030 GeneticVariation disease BEFREE The cryohydrocytosis phenotype, including South-east Asian Ovalocytosis, results from mutations in <i>SLC4A1</i>, and the very rare condition, stomatin-deficient cryohydrocytosis, is caused by mutations in <i>SLC2A1</i>. 29713289 2018
CUI: C1861453
Disease: Pseudohyperkalemia Cardiff
Pseudohyperkalemia Cardiff 		0.030 Biomarker disease BEFREE Recently paroxysmal exertion-induced dyskinesia and stomatin-deficient cryohydrocytosis have been identified as an allelic disorder to GLUT1 deficiency equally responding to a ketogenic diet. 23622389 2013
CUI: C1861453
Disease: Pseudohyperkalemia Cardiff
Pseudohyperkalemia Cardiff 		0.030 Biomarker disease BEFREE Stomatin-deficient cryohydrocytosis results from mutations in SLC2A1: a novel form of GLUT1 deficiency syndrome. 21791420 2011