Disease: NEURODEGENERATION, CHILDHOOD-ONSET, WITH BRAIN ATROPHY ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4540086
Disease: NEURODEGENERATION, CHILDHOOD-ONSET, WITH BRAIN ATROPHY
NEURODEGENERATION, CHILDHOOD-ONSET, WITH BRAIN ATROPHY 		0.700 Biomarker disease GENOMICS_ENGLAND Heterozygous De Novo UBTF Gain-of-Function Variant Is Associated with Neurodegeneration in Childhood. 28777933 2017
CUI: C4540086
Disease: NEURODEGENERATION, CHILDHOOD-ONSET, WITH BRAIN ATROPHY
NEURODEGENERATION, CHILDHOOD-ONSET, WITH BRAIN ATROPHY 		0.700 GeneticVariation disease CLINVAR Heterozygous De Novo UBTF Gain-of-Function Variant Is Associated with Neurodegeneration in Childhood. 28777933 2017
CUI: C4540086
Disease: NEURODEGENERATION, CHILDHOOD-ONSET, WITH BRAIN ATROPHY
NEURODEGENERATION, CHILDHOOD-ONSET, WITH BRAIN ATROPHY 		0.700 GeneticVariation disease UNIPROT Heterozygous De Novo UBTF Gain-of-Function Variant Is Associated with Neurodegeneration in Childhood. 28777933 2017
CUI: C4540086
Disease: NEURODEGENERATION, CHILDHOOD-ONSET, WITH BRAIN ATROPHY
NEURODEGENERATION, CHILDHOOD-ONSET, WITH BRAIN ATROPHY 		0.700 GermlineCausalMutation disease ORPHANET Heterozygous De Novo UBTF Gain-of-Function Variant Is Associated with Neurodegeneration in Childhood. 28777933 2017
CUI: C4540086
Disease: NEURODEGENERATION, CHILDHOOD-ONSET, WITH BRAIN ATROPHY
NEURODEGENERATION, CHILDHOOD-ONSET, WITH BRAIN ATROPHY 		0.700 CausalMutation disease CLINVAR