Disease: LEUKODYSTROPHY, HYPOMYELINATING, 12 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4225247
Disease: LEUKODYSTROPHY, HYPOMYELINATING, 12
LEUKODYSTROPHY, HYPOMYELINATING, 12 		0.700 Biomarker disease GENOMICS_ENGLAND A Founder Mutation in VPS11 Causes an Autosomal Recessive Leukoencephalopathy Linked to Autophagic Defects. 27120463 2016
CUI: C4225247
Disease: LEUKODYSTROPHY, HYPOMYELINATING, 12
LEUKODYSTROPHY, HYPOMYELINATING, 12 		0.700 Biomarker disease GENOMICS_ENGLAND A Founder Mutation in VPS11 Causes an Autosomal Recessive Leukoencephalopathy Linked to Autophagic Defects. 27120463 2016
CUI: C4225247
Disease: LEUKODYSTROPHY, HYPOMYELINATING, 12
LEUKODYSTROPHY, HYPOMYELINATING, 12 		0.700 GermlineCausalMutation disease ORPHANET Hypomyelination and developmental delay associated with VPS11 mutation in Ashkenazi-Jewish patients. 26307567 2015
CUI: C4225247
Disease: LEUKODYSTROPHY, HYPOMYELINATING, 12
LEUKODYSTROPHY, HYPOMYELINATING, 12 		0.700 GeneticVariation disease UNIPROT Hypomyelination and developmental delay associated with VPS11 mutation in Ashkenazi-Jewish patients. 26307567 2015
CUI: C4225247
Disease: LEUKODYSTROPHY, HYPOMYELINATING, 12
LEUKODYSTROPHY, HYPOMYELINATING, 12 		0.700 Biomarker disease GENOMICS_ENGLAND Hypomyelination and developmental delay associated with VPS11 mutation in Ashkenazi-Jewish patients. 26307567 2015
CUI: C4225247
Disease: LEUKODYSTROPHY, HYPOMYELINATING, 12
LEUKODYSTROPHY, HYPOMYELINATING, 12 		0.700 Biomarker disease CTD_human
CUI: C4225247
Disease: LEUKODYSTROPHY, HYPOMYELINATING, 12
LEUKODYSTROPHY, HYPOMYELINATING, 12 		0.700 CausalMutation disease CLINVAR