NAXE, NAD(P)HX epimerase, 128240

N. diseases: 41; N. variants: 8
Disease: Cerebellar edema ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4316985
Disease: Cerebellar edema
Cerebellar edema 		0.110 GeneticVariation disease BEFREE Exome sequencing revealed pathogenic biallelic mutations in NAXE in children from four families with (sub-) acute-onset ataxia, cerebellar edema, spinal myelopathy, and skin lesions. 27616477 2016
CUI: C4316985
Disease: Cerebellar edema
Cerebellar edema 		0.110 Biomarker disease HPO