Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0338474
Disease: Central nervous system demyelination
Central nervous system demyelination 		0.100 Biomarker disease HPO
CUI: C2677328
Disease: Cerebral hypomyelination
Cerebral hypomyelination 		0.100 Biomarker phenotype HPO
CUI: C4025319
Disease: Cessation of head growth
Cessation of head growth 		0.100 Biomarker disease HPO
CUI: C1858991
Disease: Childhood Ataxia with Central Nervous System Hypomyelinization
Childhood Ataxia with Central Nervous System Hypomyelinization 		0.700 CausalMutation disease CLINVAR Vanishing white matter disease in French-Canadian patients from Quebec. 25079571 2014
CUI: C1858991
Disease: Childhood Ataxia with Central Nervous System Hypomyelinization
Childhood Ataxia with Central Nervous System Hypomyelinization 		0.700 GeneticVariation disease UNIPROT Identification of novel EIF2B mutations in Chinese patients with vanishing white matter disease. 19158808 2009
CUI: C1858991
Disease: Childhood Ataxia with Central Nervous System Hypomyelinization
Childhood Ataxia with Central Nervous System Hypomyelinization 		0.700 GeneticVariation disease UNIPROT Mutations in each of the five subunits of translation initiation factor eIF2B can cause leukoencephalopathy with vanishing white matter. 11835386 2002
CUI: C1858991
Disease: Childhood Ataxia with Central Nervous System Hypomyelinization
Childhood Ataxia with Central Nervous System Hypomyelinization 		0.700 GermlineCausalMutation disease ORPHANET The effect of genotype on the natural history of eIF2B-related leukodystrophies. 15136673 2004
CUI: C1858991
Disease: Childhood Ataxia with Central Nervous System Hypomyelinization
Childhood Ataxia with Central Nervous System Hypomyelinization 		0.700 Biomarker disease GENOMICS_ENGLAND Postmortem Whole Exome Sequencing Identifies Novel EIF2B3 Mutation With Prenatal Phenotype in 2 Siblings. 28597716 2017
CUI: C1858991
Disease: Childhood Ataxia with Central Nervous System Hypomyelinization
Childhood Ataxia with Central Nervous System Hypomyelinization 		0.700 Biomarker disease GENOMICS_ENGLAND A practical approach to diagnosing adult onset leukodystrophies. 24357685 2014
CUI: C1858991
Disease: Childhood Ataxia with Central Nervous System Hypomyelinization
Childhood Ataxia with Central Nervous System Hypomyelinization 		0.700 GeneticVariation disease UNIPROT Adult-onset leukoencephalopathies with vanishing white matter with novel missense mutations in EIF2B2, EIF2B3, and EIF2B5. 21484434 2011
CUI: C1858991
Disease: Childhood Ataxia with Central Nervous System Hypomyelinization
Childhood Ataxia with Central Nervous System Hypomyelinization 		0.700 Biomarker disease GENOMICS_ENGLAND Identification of novel EIF2B mutations in Chinese patients with vanishing white matter disease. 19158808 2009
CUI: C1858991
Disease: Childhood Ataxia with Central Nervous System Hypomyelinization
Childhood Ataxia with Central Nervous System Hypomyelinization 		0.700 CausalMutation disease CLINVAR Fifteen novel EIF2B1-5 mutations identified in Chinese children with leukoencephalopathy with vanishing white matter and a long term follow-up. 25761052 2015
CUI: C1858991
Disease: Childhood Ataxia with Central Nervous System Hypomyelinization
Childhood Ataxia with Central Nervous System Hypomyelinization 		0.700 GeneticVariation disease CLINVAR
CUI: C1858995
Disease: Decreased circulating progesterone
Decreased circulating progesterone 		0.100 Biomarker phenotype HPO
CUI: C0011253
Disease: Delusions
Delusions 		0.100 Biomarker disease HPO
CUI: C1836830
Disease: Developmental regression
Developmental regression 		0.100 Biomarker disease HPO
CUI: C0013362
Disease: Dysarthria
Dysarthria 		0.100 Biomarker disease HPO
CUI: C0015967
Disease: Fever
Fever 		0.100 Biomarker phenotype HPO
CUI: C0542476
Disease: Forgetful
Forgetful 		0.100 Biomarker phenotype HPO
CUI: C0575081
Disease: Gait abnormality
Gait abnormality 		0.100 Biomarker group HPO
CUI: C4551915
Disease: Gait Disturbance, CTCAE
Gait Disturbance, CTCAE 		0.100 Biomarker phenotype HPO
CUI: C0231686
Disease: Gait, Unsteady
Gait, Unsteady 		0.100 Biomarker phenotype HPO
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		0.100 Biomarker phenotype HPO
CUI: C0017639
Disease: Gliosis
Gliosis 		0.100 Biomarker phenotype HPO
CUI: C0023380
Disease: Lethargy
Lethargy 		0.100 Biomarker phenotype HPO