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 |
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 |
LEUKODYSTROPHY, HYPOMYELINATING, 14
|
0.600 |
GeneticVariation
|
disease |
UNIPROT |
Biallelic UFM1 and UFC1 mutations expand the essential role of ufmylation in brain development.
|
29868776 |
2018 |
LEUKODYSTROPHY, HYPOMYELINATING, 14
|
0.600 |
GeneticVariation
|
disease |
UNIPROT |
UFM1 founder mutation in the Roma population causes recessive variant of H-ABC.
|
28931644 |
2017 |
LEUKODYSTROPHY, HYPOMYELINATING, 14
|
0.600 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
Microcephaly
|
0.420 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Biallelic UFM1 and UFC1 mutations expand the essential role of ufmylation in brain development.
|
29868776 |
2018 |
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 |
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 |
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 |
|
|
|
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 |
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 |
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 |
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 |