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
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.400 GeneticVariation disease CLINVAR A recurrent de novo missense mutation in UBTF causes developmental neuroregression. 29300972 2018
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.400 Biomarker disease GENOMICS_ENGLAND Heterozygous De Novo UBTF Gain-of-Function Variant Is Associated with Neurodegeneration in Childhood. 28777933 2017
CUI: C1836830
Disease: Developmental regression
Developmental regression 		0.400 Biomarker disease GENOMICS_ENGLAND In seven unrelated affected individuals, all suffering from developmental regression starting at 2.5-7 years, we identified a heterozygous variant, c.628G>A in UBTF, encoding p.Glu210Lys in UBF, which occurred de novo in all cases. 28777933 2017
CUI: C1836830
Disease: Developmental regression
Developmental regression 		0.400 Biomarker disease HPO
CUI: C1836830
Disease: Developmental regression
Developmental regression 		0.400 CausalMutation disease CLINVAR
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		0.300 Biomarker phenotype GENOMICS_ENGLAND Heterozygous De Novo UBTF Gain-of-Function Variant Is Associated with Neurodegeneration in Childhood. 28777933 2017
CUI: C0424621
Disease: Body Fat Distribution
Body Fat Distribution 		0.100 GeneticVariation phenotype GWASCAT Genome-wide association study of body fat distribution identifies adiposity loci and sex-specific genetic effects. 30664634 2019
CUI: C0005938
Disease: Bone Density
Bone Density 		0.100 GeneticVariation phenotype GWASCAT Life-Course Genome-wide Association Study Meta-analysis of Total Body BMD and Assessment of Age-Specific Effects. 29304378 2018
CUI: C0027746
Disease: Nerve Degeneration
Nerve Degeneration 		0.100 GeneticVariation phenotype CLINVAR A recurrent de novo missense mutation in UBTF causes developmental neuroregression. 29300972 2018
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.100 GeneticVariation phenotype CLINVAR A recurrent de novo missense mutation in UBTF causes developmental neuroregression. 29300972 2018
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.100 GeneticVariation phenotype GWASCAT Genome-wide Trans-ethnic Meta-analysis Identifies Seven Genetic Loci Influencing Erythrocyte Traits and a Role for RBPMS in Erythropoiesis. 28017375 2017
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.100 GeneticVariation phenotype GWASDB Seventy-five genetic loci influencing the human red blood cell. 23222517 2012
CUI: C0008489
Disease: Chorea
Chorea 		0.100 Biomarker phenotype HPO
CUI: C0011168
Disease: Deglutition Disorders
Deglutition Disorders 		0.100 Biomarker group HPO
CUI: C0013421
Disease: Dystonia
Dystonia 		0.100 Biomarker phenotype HPO
CUI: C0013421
Disease: Dystonia
Dystonia 		0.100 CausalMutation phenotype CLINVAR
CUI: C0026837
Disease: Muscle Rigidity
Muscle Rigidity 		0.100 Biomarker phenotype HPO
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity 		0.100 Biomarker phenotype HPO
CUI: C0027746
Disease: Nerve Degeneration
Nerve Degeneration 		0.100 Biomarker phenotype HPO
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties 		0.100 Biomarker phenotype HPO