Disease: LEUKOENCEPHALOPATHY, BRAIN CALCIFICATIONS, AND CYSTS ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3281200
Disease: LEUKOENCEPHALOPATHY, BRAIN CALCIFICATIONS, AND CYSTS
LEUKOENCEPHALOPATHY, BRAIN CALCIFICATIONS, AND CYSTS 		0.710 GeneticVariation disease BEFREE Leukoencephalopathy, Intracranial Calcifications, Cysts, and SNORD118 Mutation (Labrune Syndrome) with Obstructive Hydrocephalus. 30794980 2019
CUI: C3281200
Disease: LEUKOENCEPHALOPATHY, BRAIN CALCIFICATIONS, AND CYSTS
LEUKOENCEPHALOPATHY, BRAIN CALCIFICATIONS, AND CYSTS 		0.710 Biomarker disease GENOMICS_ENGLAND Identification of novel SNORD118 mutations in seven patients with leukoencephalopathy with brain calcifications and cysts. 28177126 2017
CUI: C3281200
Disease: LEUKOENCEPHALOPATHY, BRAIN CALCIFICATIONS, AND CYSTS
LEUKOENCEPHALOPATHY, BRAIN CALCIFICATIONS, AND CYSTS 		0.710 GermlineCausalMutation disease ORPHANET Identification of novel SNORD118 mutations in seven patients with leukoencephalopathy with brain calcifications and cysts. 28177126 2017
CUI: C3281200
Disease: LEUKOENCEPHALOPATHY, BRAIN CALCIFICATIONS, AND CYSTS
LEUKOENCEPHALOPATHY, BRAIN CALCIFICATIONS, AND CYSTS 		0.710 Biomarker disease GENOMICS_ENGLAND Identification of novel SNORD118 mutations in seven patients with leukoencephalopathy with brain calcifications and cysts. 28177126 2017
CUI: C3281200
Disease: LEUKOENCEPHALOPATHY, BRAIN CALCIFICATIONS, AND CYSTS
LEUKOENCEPHALOPATHY, BRAIN CALCIFICATIONS, AND CYSTS 		0.710 GermlineCausalMutation disease ORPHANET Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts. 27571260 2016
CUI: C3281200
Disease: LEUKOENCEPHALOPATHY, BRAIN CALCIFICATIONS, AND CYSTS
LEUKOENCEPHALOPATHY, BRAIN CALCIFICATIONS, AND CYSTS 		0.710 Biomarker disease GENOMICS_ENGLAND Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts. 27571260 2016
CUI: C3281200
Disease: LEUKOENCEPHALOPATHY, BRAIN CALCIFICATIONS, AND CYSTS
LEUKOENCEPHALOPATHY, BRAIN CALCIFICATIONS, AND CYSTS 		0.710 Biomarker disease GENOMICS_ENGLAND Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts. 27571260 2016
CUI: C3281200
Disease: LEUKOENCEPHALOPATHY, BRAIN CALCIFICATIONS, AND CYSTS
LEUKOENCEPHALOPATHY, BRAIN CALCIFICATIONS, AND CYSTS 		0.710 CausalMutation disease CLINVAR
CUI: C3281200
Disease: LEUKOENCEPHALOPATHY, BRAIN CALCIFICATIONS, AND CYSTS
LEUKOENCEPHALOPATHY, BRAIN CALCIFICATIONS, AND CYSTS 		0.710 Biomarker disease GENOMICS_ENGLAND
CUI: C3281200
Disease: LEUKOENCEPHALOPATHY, BRAIN CALCIFICATIONS, AND CYSTS
LEUKOENCEPHALOPATHY, BRAIN CALCIFICATIONS, AND CYSTS 		0.710 Biomarker disease CTD_human