Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1842563
Disease: Heterotopia, Periventricular, Autosomal Recessive
Heterotopia, Periventricular, Autosomal Recessive 		0.700 GeneticVariation disease UNIPROT Periventricular nodular heterotopia and dystonia due to an ARFGEF2 mutation. 25160555 2014
CUI: C1842563
Disease: Heterotopia, Periventricular, Autosomal Recessive
Heterotopia, Periventricular, Autosomal Recessive 		0.700 GeneticVariation disease UNIPROT West syndrome, microcephaly, grey matter heterotopia and hypoplasia of corpus callosum due to a novel ARFGEF2 mutation. 23812912 2013
CUI: C1842563
Disease: Heterotopia, Periventricular, Autosomal Recessive
Heterotopia, Periventricular, Autosomal Recessive 		0.700 GeneticVariation disease UNIPROT Mutations in ARFGEF2 implicate vesicle trafficking in neural progenitor proliferation and migration in the human cerebral cortex. 14647276 2004
CUI: C1842563
Disease: Heterotopia, Periventricular, Autosomal Recessive
Heterotopia, Periventricular, Autosomal Recessive 		0.700 Biomarker disease GENOMICS_ENGLAND Mutations in ARFGEF2 implicate vesicle trafficking in neural progenitor proliferation and migration in the human cerebral cortex. 14647276 2004
CUI: C1842563
Disease: Heterotopia, Periventricular, Autosomal Recessive
Heterotopia, Periventricular, Autosomal Recessive 		0.700 CausalMutation disease CLINVAR
CUI: C1842563
Disease: Heterotopia, Periventricular, Autosomal Recessive
Heterotopia, Periventricular, Autosomal Recessive 		0.700 Biomarker disease CTD_human
CUI: C1842563
Disease: Heterotopia, Periventricular, Autosomal Recessive
Heterotopia, Periventricular, Autosomal Recessive 		0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C1868720
Disease: Periventricular Nodular Heterotopia
Periventricular Nodular Heterotopia 		0.680 GermlineCausalMutation disease ORPHANET The presence of dyskinetic movements in individuals with acquired microcephaly could be a manifestation of periventricular nodular heterotopia due to ARFGEF2 mutation. 25160555 2014
CUI: C1868720
Disease: Periventricular Nodular Heterotopia
Periventricular Nodular Heterotopia 		0.680 GeneticVariation disease BEFREE The presence of dyskinetic movements in individuals with acquired microcephaly could be a manifestation of periventricular nodular heterotopia due to ARFGEF2 mutation. 25160555 2014
CUI: C1868720
Disease: Periventricular Nodular Heterotopia
Periventricular Nodular Heterotopia 		0.680 GeneticVariation disease BEFREE Mutations in filamin A (FLNA) or ADP-ribosylation factor guanine nucleotide-exchange factor 2 (ARFGEF2) cause periventricular nodular heterotopia, but most patients with this malformation do not have a known aetiology. 24056535 2013
CUI: C1868720
Disease: Periventricular Nodular Heterotopia
Periventricular Nodular Heterotopia 		0.680 GeneticVariation disease BEFREE A mutation in ARFGEF2 has been previously described only once, causing microcephaly and periventricular heterotopia. 23812912 2013
CUI: C1868720
Disease: Periventricular Nodular Heterotopia
Periventricular Nodular Heterotopia 		0.680 GeneticVariation disease BEFREE The presence of periventricular heterotopia, acquired microcephaly and suspected recessive inheritance led to mutation analysis of ARFGEF2 in two affected siblings and their healthy consanguineous parents, after mutations in FLNA had been ruled out. 23755938 2013
CUI: C1868720
Disease: Periventricular Nodular Heterotopia
Periventricular Nodular Heterotopia 		0.680 GeneticVariation disease BEFREE Mutations in either of two human genes, Filamin A (FLNA) or ADP-ribosylation factor guanine exchange factor 2 (ARFGEF2), cause PH (Fox et al. in 'Mutations in filamin 1 prevent migration of cerebral cortical neurons in human periventricular heterotopia'. 18996916 2009
CUI: C1868720
Disease: Periventricular Nodular Heterotopia
Periventricular Nodular Heterotopia 		0.680 Biomarker disease BEFREE Mutations in FLNA (Xq28) and ARFGEF2 (20q13) are responsible for X-linked bilateral PH and a rare autosomal recessive form of PH with microcephaly. 19073947 2009
CUI: C1868720
Disease: Periventricular Nodular Heterotopia
Periventricular Nodular Heterotopia 		0.680 Biomarker disease BEFREE Here we characterize the expression patterns for ARFGEF2 within the central nervous systems of human and mouse in order to better understand their potential roles in causing PH. 16320251 2006
CUI: C1868720
Disease: Periventricular Nodular Heterotopia
Periventricular Nodular Heterotopia 		0.680 GeneticVariation disease BEFREE A much rarer autosomal recessive form due to ARFGEF2 mutations leads to microcephaly and developmental delay in addition to PH. 15996530 2005
CUI: C1868720
Disease: Periventricular Nodular Heterotopia
Periventricular Nodular Heterotopia 		0.680 GermlineCausalMutation disease ORPHANET Here we show that an autosomal recessive condition characterized by microcephaly and periventricular heterotopia maps to chromosome 20 and is caused by mutations in the gene ADP-ribosylation factor guanine nucleotide-exchange factor-2 (ARFGEF2). 14647276 2004
CUI: C1868720
Disease: Periventricular Nodular Heterotopia
Periventricular Nodular Heterotopia 		0.680 Biomarker disease HPO
CUI: C1868720
Disease: Periventricular Nodular Heterotopia
Periventricular Nodular Heterotopia 		0.680 Biomarker disease GENOMICS_ENGLAND
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.330 Biomarker disease BEFREE Dissecting the effect of hormone receptor status in patients with HER2-positive early breast cancer: exploratory analysis from the ALTTO (BIG 2-06) randomized clinical trial. 31134488 2019
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.330 Biomarker disease BEFREE Pregnancies during and after trastuzumab and/or lapatinib in patients with human epidermal growth factor receptor 2-positive early breast cancer: Analysis from the NeoALTTO (BIG 1-06) and ALTTO (BIG 2-06) trials. 30335191 2019
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.330 Biomarker disease BEFREE p-STAT3 in luminal breast cancer: Integrated RNA-protein pooled analysis and results from the BIG 2-98 phase III trial. 29207087 2018
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.330 GeneticVariation disease UNIPROT
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		0.110 GeneticVariation disease BEFREE West syndrome, microcephaly, grey matter heterotopia and hypoplasia of corpus callosum due to a novel ARFGEF2 mutation. 23812912 2013
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.110 GeneticVariation disease BEFREE A much rarer autosomal recessive form due to ARFGEF2 mutations leads to microcephaly and developmental delay in addition to PH. 15996530 2005