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: 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 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 Biomarker disease HPO
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: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.320 Biomarker disease CTD_human These findings underline the importance of ARF1 in promoting metastasis and suggest that LM11 that inhibits ARF1 activation may represent a potential therapeutic approach to prevent or treat breast cancer metastasis. 27517156 2016
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.320 Biomarker disease BEFREE These findings underline the importance of ARF1 in promoting metastasis and suggest that LM11 that inhibits ARF1 activation may represent a potential therapeutic approach to prevent or treat breast cancer metastasis. 27517156 2016
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.320 Biomarker disease CTD_human These findings underline the importance of ARF1 in promoting metastasis and suggest that LM11 that inhibits ARF1 activation may represent a potential therapeutic approach to prevent or treat breast cancer metastasis. 27517156 2016
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.320 Biomarker disease BEFREE These findings underline the importance of ARF1 in promoting metastasis and suggest that LM11 that inhibits ARF1 activation may represent a potential therapeutic approach to prevent or treat breast cancer metastasis. 27517156 2016
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.320 Biomarker disease BEFREE In conclusion, this study provides a new mechanism by which ARF1 regulates cell migration and identifies this GTPase as a promising pharmacological target to reduce metastasis formation in breast cancer patients. 23707487 2013
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.320 Biomarker disease BEFREE In conclusion, this study provides a new mechanism by which ARF1 regulates cell migration and identifies this GTPase as a promising pharmacological target to reduce metastasis formation in breast cancer patients. 23707487 2013
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		0.310 Biomarker group CTD_human Suppression of breast cancer metastasis through the inactivation of ADP-ribosylation factor 1. 27517156 2016
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		0.310 AlteredExpression group LHGDN ADP-ribosylation factor 1 controls the activation of the phosphatidylinositol 3-kinase pathway to regulate epidermal growth factor-dependent growth and migration of breast cancer cells. 18990689 2008
CUI: C0027626
Disease: Neoplasm Invasiveness
Neoplasm Invasiveness 		0.300 Biomarker phenotype CTD_human Suppression of breast cancer metastasis through the inactivation of ADP-ribosylation factor 1. 27517156 2016
CUI: C1257931
Disease: Mammary Neoplasms, Human
Mammary Neoplasms, Human 		0.300 Biomarker disease CTD_human Suppression of breast cancer metastasis through the inactivation of ADP-ribosylation factor 1. 27517156 2016
CUI: C4704874
Disease: Mammary Carcinoma, Human
Mammary Carcinoma, Human 		0.300 Biomarker disease CTD_human Suppression of breast cancer metastasis through the inactivation of ADP-ribosylation factor 1. 27517156 2016
CUI: C0410702
Disease: Adolescent idiopathic scoliosis
Adolescent idiopathic scoliosis 		0.100 GeneticVariation disease GWASCAT Genome-wide association study identifies 14 previously unreported susceptibility loci for adolescent idiopathic scoliosis in Japanese. 31417091 2019
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: C0003486
Disease: Aortic Aneurysm
Aortic Aneurysm 		0.100 Biomarker disease HPO
CUI: C0003504
Disease: Aortic Valve Insufficiency
Aortic Valve Insufficiency 		0.100 Biomarker disease HPO
CUI: C0013274
Disease: Patent ductus arteriosus
Patent ductus arteriosus 		0.100 Biomarker disease HPO
CUI: C0017168
Disease: Gastroesophageal reflux disease
Gastroesophageal reflux disease 		0.100 Biomarker disease HPO
CUI: C0019270
Disease: Hernia
Hernia 		0.100 Biomarker phenotype HPO
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity 		0.100 Biomarker phenotype HPO
CUI: C0034194
Disease: Pyloric Stenosis
Pyloric Stenosis 		0.100 Biomarker phenotype HPO