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: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		0.020 Biomarker group BEFREE The results revealed 49 DEGs and three hub genes (CISH, UFM1, TSHZ1), all of them involved in insulin and diabetes mellitus metabolism. 31170441 2020
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: 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: 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: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach 		0.010 Biomarker disease BEFREE This study aims to clarify the role and potential molecular mechanisms of UFM1 in the invasion and metastasis of gastric cancer. 31533855 2019
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		0.010 Biomarker phenotype BEFREE This study aims to clarify the role and potential molecular mechanisms of UFM1 in the invasion and metastasis of gastric cancer. 31533855 2019
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma 		0.010 Biomarker disease BEFREE This study aims to clarify the role and potential molecular mechanisms of UFM1 in the invasion and metastasis of gastric cancer. 31533855 2019
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		0.010 Biomarker phenotype BEFREE The effects of UFM1 on the invasion and migration of gastric cancer cells were determined by the wound and trans-well assays, and the effect of UFM1 on subcutaneous tumor formation was verified in nude mice. 31533855 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: 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: 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 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: 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
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		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
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: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.010 Biomarker group BEFREE Western blotting revealed that Ufl1 (Ufm1-specific E3 ligase 1)-an enzyme essential for Ufm1 modification-was increased in hypertrophic mouse hearts but reduced in the failing hearts of patients with dilated cardiomyopathy. 30354401 2018
CUI: C0018801
Disease: Heart failure
Heart failure 		0.010 Biomarker disease BEFREE Ufm1-Specific Ligase Ufl1 Regulates Endoplasmic Reticulum Homeostasis and Protects Against Heart Failure. 30354401 2018
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure 		0.010 Biomarker disease BEFREE Ufm1-Specific Ligase Ufl1 Regulates Endoplasmic Reticulum Homeostasis and Protects Against Heart Failure. 30354401 2018
CUI: C0027765
Disease: nervous system disorder
nervous system disorder 		0.010 Biomarker group 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
CUI: C0178874
Disease: Tumor Progression
Tumor Progression 		0.010 Biomarker phenotype BEFREE Protein post-translational modification by ubiquitin-fold modifier 1, UFM1, regulates many biological processes such as response to endoplasmic reticulum stress and regulation of tumor progression. 29533670 2018
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 GeneticVariation disease UNIPROT UFM1 founder mutation in the Roma population causes recessive variant of H-ABC. 28931644 2017
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.030 Biomarker disease BEFREE The ubiquitin-fold modifier 1 (UFM1)-system, a ubiquitin-like protein conjugation system, is involved in the development of breast cancer and several hereditary neurological syndromes. 27926783 2017
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.030 Biomarker disease BEFREE The ubiquitin-fold modifier 1 (UFM1)-system, a ubiquitin-like protein conjugation system, is involved in the development of breast cancer and several hereditary neurological syndromes. 27926783 2017
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