ARF1, ADP ribosylation factor 1, 375

N. diseases: 61; N. variants: 4
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		0.050 Biomarker phenotype BEFREE Furthermore, we demonstrated that Arf GEFs and GAPs colocalize at invading Salmonella and collaborate to drive Arf1-dependent pathogen invasion. 25670778 2015
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		0.050 AlteredExpression phenotype BEFREE Elevated ARF1 expression was strongly correlated with lymph node metastasis (P = 0.008), serosal invasion (P = 0.046), lymphatic invasion (P = 0.035), and pathological staging (P = 0.010). 22348287 2012
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		0.050 Biomarker phenotype BEFREE Knockdown of ARF1 leads to significant suppression of migration and invasion in breast cancer cells. 27517156 2016
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		0.050 Biomarker phenotype BEFREE Decreased EGFR phosphorylation is associated with reduced EGFR protein levels in the presence of TSA, which inactivates Arf1 and eventually inhibits invasion in HNSCC cells. 30777099 2019
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		0.050 AlteredExpression phenotype BEFREE Recently, we demonstrated that the small GTPases ARF1 and ARF6 were shown to be activated downstream of the epidermal growth factor receptor (EGFR) and act as a key regulator of growth, migration, and invasion of breast cancer cells. 24407288 2014
CUI: C4722518
Disease: Triple-Negative Breast Carcinoma
Triple-Negative Breast Carcinoma 		0.010 Biomarker disease BEFREE Together our findings uncover a new mechanism by which ARF1 regulates cell migration and provide this GTPase as a target for the development of new therapeutics in triple negative breast cancer. 25530216 2015
CUI: C3539878
Disease: Triple Negative Breast Neoplasms
Triple Negative Breast Neoplasms 		0.010 Biomarker disease BEFREE Together our findings uncover a new mechanism by which ARF1 regulates cell migration and provide this GTPase as a target for the development of new therapeutics in triple negative breast cancer. 25530216 2015
CUI: C0423757
Disease: Thin skin
Thin skin 		0.100 Biomarker phenotype HPO
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma 		0.010 Biomarker disease BEFREE These findings collectively support the utility of ARF1 as a novel prognostic marker for gastric cancer and its role in cell invasion. 22348287 2012
CUI: C1168401
Disease: Squamous cell carcinoma of the head and neck
Squamous cell carcinoma of the head and neck 		0.010 AlteredExpression disease BEFREE Mechanistically, high levels of Arf1 activity are maintained by binding to phosphorylated EGFR which is localized on HNSCC cell plasma membrane. 30777099 2019
CUI: C4553743
Disease: Spasticity, CTCAE
Spasticity, CTCAE 		0.100 Biomarker phenotype HPO
CUI: C0751495
Disease: Seizures, Focal
Seizures, Focal 		0.100 Biomarker phenotype HPO
CUI: C0686619
Disease: Secondary malignant neoplasm of lymph node
Secondary malignant neoplasm of lymph node 		0.010 AlteredExpression disease BEFREE Elevated ARF1 expression was strongly correlated with lymph node metastasis (P = 0.008), serosal invasion (P = 0.046), lymphatic invasion (P = 0.035), and pathological staging (P = 0.010). 22348287 2012
CUI: C0153676
Disease: Secondary malignant neoplasm of lung
Secondary malignant neoplasm of lung 		0.010 AlteredExpression disease BEFREE Using the orthotopic xenograft model in NSG mice, we demonstrate that loss of ARF1 expression in breast cancer cells inhibits pulmonary metastasis. 27517156 2016
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		0.100 Biomarker disease HPO
CUI: C1837461
Disease: SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 		0.100 GeneticVariation disease GWASCAT Genome-wide association study identifies 14 previously unreported susceptibility loci for adolescent idiopathic scoliosis in Japanese. 31417091 2019
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.010 AlteredExpression disease BEFREE Lower ARF1-21 levels were associated with the previously reported increased SNAP25-syntaxin interaction in schizophrenia (r = -0.39, P = 0.04). 30610939 2019
CUI: C0034194
Disease: Pyloric Stenosis
Pyloric Stenosis 		0.100 Biomarker phenotype HPO
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		0.010 AlteredExpression disease BEFREE Activation of small GTPases such as Ras and Arf1 is a critical component of the signaling pathways for most of the receptors shown to be upregulated in advanced prostate cancer. 28830537 2017
CUI: C4748602
Disease: PERIVENTRICULAR NODULAR HETEROTOPIA 8
PERIVENTRICULAR NODULAR HETEROTOPIA 8 		0.400 GeneticVariation disease UNIPROT Missense-depleted regions in population exomes implicate ras superfamily nucleotide-binding protein alteration in patients with brain malformation. 28868155 2016
CUI: C4748602
Disease: PERIVENTRICULAR NODULAR HETEROTOPIA 8
PERIVENTRICULAR NODULAR HETEROTOPIA 8 		0.400 CausalMutation disease CLINVAR
CUI: C1868720
Disease: Periventricular Nodular Heterotopia
Periventricular Nodular Heterotopia 		0.410 GeneticVariation disease BEFREE Mutations in the BIG2 Arf1 GEF have been linked to autosomal recessive periventricular heterotopia, a disorder of neuronal migration that leads to severe malformation of the cerebral cortex. 19669794 2009
CUI: C1868720
Disease: Periventricular Nodular Heterotopia
Periventricular Nodular Heterotopia 		0.410 GermlineCausalMutation disease ORPHANET Missense-depleted regions in population exomes implicate ras superfamily nucleotide-binding protein alteration in patients with brain malformation. 28868155 2016
CUI: C1868720
Disease: Periventricular Nodular Heterotopia
Periventricular Nodular Heterotopia 		0.410 Biomarker disease HPO
CUI: C0013274
Disease: Patent ductus arteriosus
Patent ductus arteriosus 		0.100 Biomarker disease HPO