SHPK, sedoheptulokinase, 23729

N. diseases: 27; N. variants: 2
Disease: Deficiency of sedoheptulokinase ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1291373
Disease: Deficiency of sedoheptulokinase
Deficiency of sedoheptulokinase 		0.600 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
CUI: C1291373
Disease: Deficiency of sedoheptulokinase
Deficiency of sedoheptulokinase 		0.600 GermlineCausalMutation disease ORPHANET First two unrelated cases of isolated sedoheptulokinase deficiency: A benign disorder? 25647543 2015
CUI: C1291373
Disease: Deficiency of sedoheptulokinase
Deficiency of sedoheptulokinase 		0.600 GeneticVariation disease CLINVAR