UFM1, ubiquitin fold modifier 1, 51569

N. diseases: 36; N. variants: 2
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4693535
Disease: LEUKODYSTROPHY, HYPOMYELINATING, 14
LEUKODYSTROPHY, HYPOMYELINATING, 14 		0.600 GeneticVariation disease UNIPROT Biallelic UFM1 and UFC1 mutations expand the essential role of ufmylation in brain development. 29868776 2018
CUI: C4693535
Disease: LEUKODYSTROPHY, HYPOMYELINATING, 14
LEUKODYSTROPHY, HYPOMYELINATING, 14 		0.600 GeneticVariation disease UNIPROT UFM1 founder mutation in the Roma population causes recessive variant of H-ABC. 28931644 2017
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.420 GeneticVariation disease BEFREE Here, we establish a locus for severe early-onset encephalopathy with progressive microcephaly based on two families, and map the phenotype to a novel homozygous UFM1 mutation. 29868776 2018
CUI: C0085584
Disease: Encephalopathies
Encephalopathies 		0.020 GeneticVariation group BEFREE Biallelic Variants in UBA5 Reveal that Disruption of the UFM1 Cascade Can Result in Early-Onset Encephalopathy. 27545681 2016
CUI: C0085584
Disease: Encephalopathies
Encephalopathies 		0.020 GeneticVariation group BEFREE Here, we establish a locus for severe early-onset encephalopathy with progressive microcephaly based on two families, and map the phenotype to a novel homozygous UFM1 mutation. 29868776 2018
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		0.010 GeneticVariation phenotype BEFREE The finding of a UBA5 mutation in cerebellar ataxia suggests that impairment of the UFM1 pathway may contribute to the neurological phenotypes of ARCA. 26872069 2016
CUI: C0017154
Disease: Gastritis, Atrophic
Gastritis, Atrophic 		0.010 GeneticVariation disease BEFREE SNPs rs9315542 (UFM1 gene), rs6878265 (THBS4 gene), rs1042194 (CYP2C19 gene) and rs10505799 (MGST1 gene) were significantly associated with atrophic gastritis, complete intestinal metaplasia, incomplete metaplasia with foci of dysplasia and dysplasia, respectively. 23801863 2013
CUI: C0334037
Disease: Intestinal metaplasia
Intestinal metaplasia 		0.010 GeneticVariation phenotype BEFREE SNPs rs9315542 (UFM1 gene), rs6878265 (THBS4 gene), rs1042194 (CYP2C19 gene) and rs10505799 (MGST1 gene) were significantly associated with atrophic gastritis, complete intestinal metaplasia, incomplete metaplasia with foci of dysplasia and dysplasia, respectively. 23801863 2013
CUI: C1840572
Disease: HIP DYSPLASIA, BEUKES TYPE
HIP DYSPLASIA, BEUKES TYPE 		0.010 GeneticVariation disease BEFREE A unique variant of the ubiquitin-fold modifier 1 (Ufm1)-specific peptidase 2 (UFSP2) gene (c.868T>C) has been reported in all individuals from Beukes family with clinical and radiological diagnosis of Beukes hip dysplasia. 28892125 2018
CUI: C4693535
Disease: LEUKODYSTROPHY, HYPOMYELINATING, 14
LEUKODYSTROPHY, HYPOMYELINATING, 14 		0.600 Biomarker disease GENOMICS_ENGLAND Which genes to assess in the NGS diagnostics of intellectual disability? The case for a consensus database-driven and expert-curated approach. 30914295 2019
CUI: C4693535
Disease: LEUKODYSTROPHY, HYPOMYELINATING, 14
LEUKODYSTROPHY, HYPOMYELINATING, 14 		0.600 Biomarker disease GENOMICS_ENGLAND Biallelic UFM1 and UFC1 mutations expand the essential role of ufmylation in brain development. 29868776 2018
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.420 Biomarker disease GENOMICS_ENGLAND Biallelic UFM1 and UFC1 mutations expand the essential role of ufmylation in brain development. 29868776 2018
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.420 Biomarker disease HPO
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.420 Biomarker disease BEFREE Finally, we show that the CNS-specific knockout of Ufm1 in mice causes neonatal death accompanied by microcephaly and apoptosis in specific neurons, further suggesting that the UFM1 system is essential for CNS development and function. 27545674 2016
CUI: C0013421
Disease: Dystonia
Dystonia 		0.100 Biomarker phenotype HPO
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity 		0.100 Biomarker phenotype HPO
CUI: C0035229
Disease: Respiratory Insufficiency
Respiratory Insufficiency 		0.100 Biomarker phenotype HPO
CUI: C0036572
Disease: Seizures
Seizures 		0.100 Biomarker phenotype HPO
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties 		0.100 Biomarker phenotype HPO
CUI: C0235946
Disease: Cerebral atrophy
Cerebral atrophy 		0.100 Biomarker disease HPO
CUI: C0456070
Disease: Growth delay
Growth delay 		0.100 Biomarker phenotype HPO
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy 		0.100 Biomarker disease HPO
CUI: C1854882
Disease: Absent speech
Absent speech 		0.100 Biomarker phenotype HPO
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		0.100 Biomarker phenotype HPO
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.100 Biomarker group HPO