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 CausalMutation disease CLINVAR
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		0.020 AlteredExpression group BEFREE In conclusion, the present study demonstrated that Ufm 1 could activate NF-κB pathway by downregulating LZAP in macrophage of diabetes and its expression and activation was regulated by JNK/ATF2 and c-Jun pathway. 31829413 2020
CUI: C0003850
Disease: Arteriosclerosis
Arteriosclerosis 		0.010 AlteredExpression disease BEFREE UFM1 is dramatically upregulated under atherosclerosis conditions both in vivo and in vitro. 26040753 2015
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis 		0.010 AlteredExpression disease BEFREE UFM1 is dramatically upregulated under atherosclerosis conditions both in vivo and in vitro. 26040753 2015
CUI: C0011847
Disease: Diabetes
Diabetes 		0.010 AlteredExpression disease BEFREE In conclusion, the present study demonstrated that Ufm 1 could activate NF-κB pathway by downregulating LZAP in macrophage of diabetes and its expression and activation was regulated by JNK/ATF2 and c-Jun pathway. 31829413 2020
CUI: C0019187
Disease: Hepatitis, Alcoholic
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
CUI: C0027651
Disease: Neoplasms
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
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
CUI: C4553743
Disease: Spasticity, CTCAE
Spasticity, CTCAE 		0.100 Biomarker phenotype HPO
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.030 Biomarker disease BEFREE Ufm1 functions in endoplasmic reticulum homeostasis, cell cycle regulation, and dysfunctions of this protein can result in breast cancer and neurological disorders. 29251776 2018