LEUKODYSTROPHY, HYPOMYELINATING, 14
|
0.600 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
Microcephaly
|
0.420 |
Biomarker
|
disease |
HPO |
|
|
|
Dystonia
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Muscle Spasticity
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Respiratory Insufficiency
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Seizures
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Feeding difficulties
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Cerebral atrophy
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Growth delay
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Cerebellar atrophy
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Absent speech
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Generalized hypotonia
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Intellectual Disability
|
0.100 |
Biomarker
|
group |
HPO |
|
|
|
Spasticity, CTCAE
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
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 |
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 |
Malignant neoplasm of breast
|
0.030 |
Biomarker
|
disease |
BEFREE |
Modification of ASC1 by UFM1 is crucial for ERα transactivation and breast cancer development.
|
25219498 |
2014 |
Breast Carcinoma
|
0.030 |
Biomarker
|
disease |
BEFREE |
Modification of ASC1 by UFM1 is crucial for ERα transactivation and breast cancer development.
|
25219498 |
2014 |
Hepatitis, Alcoholic
|
0.010 |
AlteredExpression
|
disease |
BEFREE |
The DNA methylation levels of Ufm1, Ufc1 and UfSP1 in the promoter CpG region were significantly increased both in AH and NASH patients compared to normal subjects.
|
25290169 |
2014 |
Neoplasms
|
0.010 |
AlteredExpression
|
group |
BEFREE |
In contrast, expression of ufmylation-deficient ASC1 mutant or knockdown of the UFM1-activating E1 enzyme UBA5 prevented tumor growth.
|
25219498 |
2014 |
Arteriosclerosis
|
0.010 |
AlteredExpression
|
disease |
BEFREE |
UFM1 is dramatically upregulated under atherosclerosis conditions both in vivo and in vitro.
|
26040753 |
2015 |
Atherosclerosis
|
0.010 |
AlteredExpression
|
disease |
BEFREE |
UFM1 is dramatically upregulated under atherosclerosis conditions both in vivo and in vitro.
|
26040753 |
2015 |
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 |
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 |
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 |