Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
NEURODEGENERATION, CHILDHOOD-ONSET, WITH BRAIN ATROPHY
CUI: C4540086
Disease: NEURODEGENERATION, CHILDHOOD-ONSET, WITH BRAIN ATROPHY
0.800 GeneticVariation CLINVAR Heterozygous De Novo UBTF Gain-of-Function Variant Is Associated with Neurodegeneration in Childhood. 28777933 2017
NEURODEGENERATION, CHILDHOOD-ONSET, WITH BRAIN ATROPHY
CUI: C4540086
Disease: NEURODEGENERATION, CHILDHOOD-ONSET, WITH BRAIN ATROPHY
0.800 GeneticVariation UNIPROT Heterozygous De Novo UBTF Gain-of-Function Variant Is Associated with Neurodegeneration in Childhood. 28777933 2017
NEURODEGENERATION, CHILDHOOD-ONSET, WITH BRAIN ATROPHY
CUI: C4540086
Disease: NEURODEGENERATION, CHILDHOOD-ONSET, WITH BRAIN ATROPHY
0.800 CausalMutation CLINVAR
Nerve Degeneration
CUI: C0027746
Disease: Nerve Degeneration
0.700 GeneticVariation CLINVAR A recurrent de novo missense mutation in UBTF causes developmental neuroregression. 29300972 2018
Poor school performance
CUI: C1843367
Disease: Poor school performance
0.700 GeneticVariation CLINVAR A recurrent de novo missense mutation in UBTF causes developmental neuroregression. 29300972 2018
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
0.700 GeneticVariation CLINVAR A recurrent de novo missense mutation in UBTF causes developmental neuroregression. 29300972 2018
Gait Ataxia
CUI: C0751837
Disease: Gait Ataxia
0.700 CausalMutation CLINVAR
Dysphasia
CUI: C0973461
Disease: Dysphasia
0.700 CausalMutation CLINVAR
Dystonia
CUI: C0013421
Disease: Dystonia
0.700 CausalMutation CLINVAR
Abnormal corpus callosum morphology
CUI: C1842581
Disease: Abnormal corpus callosum morphology
0.700 CausalMutation CLINVAR
Developmental regression
CUI: C1836830
Disease: Developmental regression
0.700 CausalMutation CLINVAR
Generalized hypotonia
CUI: C1858120
Disease: Generalized hypotonia
0.700 CausalMutation CLINVAR
Nasal, dysarthic speech
CUI: C1834664
Disease: Nasal, dysarthic speech
0.700 CausalMutation CLINVAR
Hyperactive behavior
CUI: C0424295
Disease: Hyperactive behavior
0.700 CausalMutation CLINVAR
Autistic behavior
CUI: C0856975
Disease: Autistic behavior
0.700 CausalMutation CLINVAR