ATL1, atlastin GTPase 1, 51062

N. diseases: 112; N. variants: 26
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		0.030 Biomarker phenotype BEFREE Our findings demonstrate that fsp1-mediated lineage tracing does not allow any conclusions about the requirement of EMT for metastasis. 31775027 2019
CUI: C0034152
Disease: Henoch-Schoenlein Purpura
Henoch-Schoenlein Purpura 		0.100 GeneticVariation disease BEFREE The mean age of AD-HSP onset for ATL1 mutation-positive patients was earlier than patients with SPAST, REEP1 mutations. 31745725 2019
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.010 Biomarker disease BEFREE These findings suggest that atlastin-1 likely contributes to the occurrence and development of epilepsy through inhibitory synaptic transmission. 31729196 2020
CUI: C0014556
Disease: Epilepsy, Temporal Lobe
Epilepsy, Temporal Lobe 		0.010 AlteredExpression disease BEFREE Here, we reported that the expression level of atlastin-1 protein was reduced in the temporal neocortex of patients with temporal lobe epilepsy and in the hippocampus and adjacent cortex of a pentylenetetrazol-kindled epileptic mouse model. 31729196 2020
CUI: C0036572
Disease: Seizures
Seizures 		0.010 AlteredExpression phenotype BEFREE The lentivirus-mediated overexpression of atlastin-1 protein in the hippocampus of mice suppressed seizure activity in behavioral experiments. 31729196 2020
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		0.030 Biomarker disease BEFREE We further find that FSP1 expression positively correlates with ferroptosis resistance across hundreds of cancer cell lines, and that FSP1 mediates resistance to ferroptosis in lung cancer cells in culture and in mouse tumour xenografts. 31634900 2019
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.030 Biomarker disease BEFREE We further find that FSP1 expression positively correlates with ferroptosis resistance across hundreds of cancer cell lines, and that FSP1 mediates resistance to ferroptosis in lung cancer cells in culture and in mouse tumour xenografts. 31634900 2019
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		0.030 Biomarker disease BEFREE We further find that FSP1 expression positively correlates with ferroptosis resistance across hundreds of cancer cell lines, and that FSP1 mediates resistance to ferroptosis in lung cancer cells in culture and in mouse tumour xenografts. 31634900 2019
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.020 Biomarker group BEFREE We further find that FSP1 expression positively correlates with ferroptosis resistance across hundreds of cancer cell lines, and that FSP1 mediates resistance to ferroptosis in lung cancer cells in culture and in mouse tumour xenografts. 31634900 2019
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.020 Biomarker group BEFREE We further find that FSP1 expression positively correlates with ferroptosis resistance across hundreds of cancer cell lines, and that FSP1 mediates resistance to ferroptosis in lung cancer cells in culture and in mouse tumour xenografts. 31634900 2019
CUI: C0037773
Disease: Spastic Paraplegia, Hereditary
Spastic Paraplegia, Hereditary 		0.400 Biomarker disease BEFREE Mutational Spectrum of Spast (Spg4) and Atl1 (Spg3a) Genes In Russian Patients With Hereditary Spastic Paraplegia. 31594988 2019
CUI: C0034152
Disease: Henoch-Schoenlein Purpura
Henoch-Schoenlein Purpura 		0.100 GeneticVariation disease BEFREE The most common autosomal dominant (AD) forms of HSP are SPG4 (SPAST gene) and SPG3 (ATL1 gene). 31594988 2019
CUI: C1561643
Disease: Chronic Kidney Diseases
Chronic Kidney Diseases 		0.010 AlteredExpression group BEFREE Furthermore, the CINA treatment abolished the upregulation of mesenchymal markers (FSP1 and α-SMA) and the downregulation of an endothelial marker (CD31) in bone tissues from rats with CKD. 31475182 2019
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		0.110 Biomarker disease BEFREE Using mice that express GFP under the FSP1 or αSMA promoter, we characterized two non-overlapping fibroblast subtypes from mouse hearts after myocardial infarction. 31289275 2019
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.050 Biomarker group BEFREE <b>Results:</b> While the population of LY6C<sup>hi</sup> monocytes was increased in non-treated tumor-bearing mice, the treatment with ATL-1 diminished the population of LY6C<sup>hi</sup> monocytes in spleen, blood and bone marrow, decreasing macrophage infiltration into the tumor and reducing the M2 markers expression on TAMs. 31275860 2019
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.020 Biomarker group BEFREE ATL-1 may become a new tool in cancer control. 31275860 2019
CUI: C0178874
Disease: Tumor Progression
Tumor Progression 		0.020 Biomarker phenotype BEFREE The data evidence the anti-tumor mechanism of ATL-1, by decreasing the availability of TAM-precursor monocytes and changing TAMs profile <i>in vivo</i>, impairing tumor progression. 31275860 2019
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.020 Biomarker group BEFREE ATL-1 may become a new tool in cancer control. 31275860 2019
CUI: C0037773
Disease: Spastic Paraplegia, Hereditary
Spastic Paraplegia, Hereditary 		0.400 GeneticVariation disease BEFREE Deletion of ATL results in long unbranched ER tubules in cells, and mutation of human ATL1 is linked to hereditary spastic paraplegia. 31239341 2019
CUI: C0034152
Disease: Henoch-Schoenlein Purpura
Henoch-Schoenlein Purpura 		0.100 Biomarker disease BEFREE <b>Results:</b> Fifty four patients with genetically confirmed HSP diagnosis, 36 with spastic paraplegia type 4 (SPG4), 5 SPG11, 4 SPG5, 4 cerebrotendinous xanthomatosis (CTX), 3 SPG7 and 2 SPG3A, and 10 healthy, unrelated control subjects, with similar age, sex, and education participated in the study. 31231294 2019
CUI: C0037773
Disease: Spastic Paraplegia, Hereditary
Spastic Paraplegia, Hereditary 		0.400 GeneticVariation disease BEFREE Mutant alleles of Atlastin-1 found in Hereditary Spastic Paraplegia (HSP) patients show similar ER phenotypes, suggesting that neuronal ER impairment contributes to HSP disease pathogenesis. 30718476 2019
CUI: C0034152
Disease: Henoch-Schoenlein Purpura
Henoch-Schoenlein Purpura 		0.100 Biomarker disease BEFREE Mutant alleles of Atlastin-1 found in Hereditary Spastic Paraplegia (HSP) patients show similar ER phenotypes, suggesting that neuronal ER impairment contributes to HSP disease pathogenesis. 30718476 2019
CUI: C0699739
Disease: Sensory Neuropathy, Hereditary
Sensory Neuropathy, Hereditary 		0.340 GeneticVariation disease BEFREE Mutations in ATL1 and ATL3 cause spastic paraplegia and hereditary sensory neuropathy. 30666337 2019
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia 		0.140 GeneticVariation disease BEFREE Mutations in ATL1 and ATL3 cause spastic paraplegia and hereditary sensory neuropathy. 30666337 2019
CUI: C0005890
Disease: Body Height
Body Height 		0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019