Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0023465
Disease: Acute monocytic leukemia
Acute monocytic leukemia
0.010 GeneticVariation disease BEFREE Here, we report a second case--an infant acute monocytic leukemia (AML M5b)--with an MLL/GRAF fusion. 15382263 2004
CUI: C0280634
Disease: Adult Acute Monocytic Leukemia
Adult Acute Monocytic Leukemia
0.010 GeneticVariation disease BEFREE Here, we report a second case--an infant acute monocytic leukemia (AML M5b)--with an MLL/GRAF fusion. 15382263 2004
CUI: C0278878
Disease: Adult Glioblastoma
Adult Glioblastoma
0.010 Biomarker disease BEFREE Also, knockdown- or pharmacological agent-based attenuation of EGFR, FAK or Graf (ARHGAP26)/small GTPase-mediated pathways markedly mitigated the aggressiveness of glioblastoma cells. 26377974 2015
CUI: C3900098
Disease: Adult Myelodysplastic Syndrome
Adult Myelodysplastic Syndrome
0.020 PosttranslationalModification disease BEFREE In contrast to normal tissues, which tested negative for GRAF promoter methylation, 11 of 29 (38%) bone marrow samples from patients with acute myeloid leukaemia or myelodysplastic syndrome were positive. 16404424 2006
CUI: C3900098
Disease: Adult Myelodysplastic Syndrome
Adult Myelodysplastic Syndrome
0.020 PosttranslationalModification disease BEFREE GTPase regulator associated with focal adhesion kinase (GRAF), a putative tumor suppressor gene, was revealed with mutations and promoter methylation in AML and myelodysplastic syndrome. 21074269 2011
ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED
0.010 AlteredExpression disease BEFREE Our data support the hypothesis of a primary role for altered gene expression in ATRX syndrome and suggest that the GRAF1/OPHN-1-L gene might be involved in the pathogenesis of the mental retardation. 20602808 2010
CUI: C2861614
Disease: AML M5b
AML M5b
0.010 Biomarker disease BEFREE MLL/GRAF fusion in an infant acute monocytic leukemia (AML M5b) with a cytogenetically cryptic ins(5;11)(q31;q23q23). 15382263 2004
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
0.010 Biomarker group BEFREE This case indicates that the clinical spectrum of ARHGAP26-related autoimmunity might be broader than expected. 26298328 2015
CUI: C0005890
Disease: Body Height
Body Height
0.100 GeneticVariation phenotype GWASCAT Characterizing rare and low-frequency height-associated variants in the Japanese population. 31562340 2019
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.010 Biomarker disease BEFREE Consistent with the tumor suppressive role of claudins shown in mice, in humans, claudin-low breast cancer has been described as a distinct entity with a poor prognosis, and claudin-18-Rho GTPase activating protein 26 (CLDN18-ARHGAP26) fusion protein as a driver gene aberration in diffuse-type gastric cancer due to effects on RhoA. 31332482 2019
CUI: C0206696
Disease: Carcinoma, Signet Ring Cell
Carcinoma, Signet Ring Cell
0.010 Biomarker disease BEFREE Overall, this study provides insights into the clinical and genomic features of SRCC, and highlights the importance of frequent CLDN18-ARHGAP26/6 fusions in chemotherapy response for SRCC. 29961079 2018
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia
0.030 Biomarker phenotype BEFREE Here, we report a newly diagnosed anti-Ca/ARHGAP26-IgG-positive patient who presented with recurrent psychotic symptoms but no cerebellar ataxia. 26298328 2015
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia
0.030 Biomarker phenotype BEFREE Autoantibodies against the RhoGTPase-activating protein 26 (ARHGAP26) were originally identified in the context of subacute autoimmune cerebellar ataxia. 30158896 2018
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia
0.030 Biomarker phenotype BEFREE The field of movement disorders with neuronal antibodies keeps expanding with the discovery for example of antibodies against leucine rich glioma inactivated protein 1 (LGI1) and contactin associated protein 2 (Caspr2) in chorea, or antibodies targeting ARHGAP26- or Na/K ATPase alpha 3 subunit (ATP1A3) in cerebellar ataxia. 27262149 2016
CUI: C0279646
Disease: Childhood Acute Monocytic Leukemia
Childhood Acute Monocytic Leukemia
0.010 GeneticVariation disease BEFREE Here, we report a second case--an infant acute monocytic leukemia (AML M5b)--with an MLL/GRAF fusion. 15382263 2004
CUI: C0280474
Disease: Childhood Glioblastoma
Childhood Glioblastoma
0.010 Biomarker disease BEFREE Also, knockdown- or pharmacological agent-based attenuation of EGFR, FAK or Graf (ARHGAP26)/small GTPase-mediated pathways markedly mitigated the aggressiveness of glioblastoma cells. 26377974 2015
CUI: C2347761
Disease: Childhood Myelodysplastic Syndrome
Childhood Myelodysplastic Syndrome
0.020 PosttranslationalModification disease BEFREE In contrast to normal tissues, which tested negative for GRAF promoter methylation, 11 of 29 (38%) bone marrow samples from patients with acute myeloid leukaemia or myelodysplastic syndrome were positive. 16404424 2006
CUI: C2347761
Disease: Childhood Myelodysplastic Syndrome
Childhood Myelodysplastic Syndrome
0.020 PosttranslationalModification disease BEFREE GTPase regulator associated with focal adhesion kinase (GRAF), a putative tumor suppressor gene, was revealed with mutations and promoter methylation in AML and myelodysplastic syndrome. 21074269 2011
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
0.100 GeneticVariation disease GWASCAT Identification of 64 Novel Genetic Loci Provides an Expanded View on the Genetic Architecture of Coronary Artery Disease. 29212778 2018
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
0.100 GeneticVariation disease GWASDB Large-scale association analysis identifies new risk loci for coronary artery disease. 23202125 2013
CUI: C0200638
Disease: Eosinophil count procedure
Eosinophil count procedure
0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C0017636
Disease: Glioblastoma
Glioblastoma
0.010 Biomarker disease BEFREE Also, knockdown- or pharmacological agent-based attenuation of EGFR, FAK or Graf (ARHGAP26)/small GTPase-mediated pathways markedly mitigated the aggressiveness of glioblastoma cells. 26377974 2015
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme
0.010 Biomarker disease BEFREE Also, knockdown- or pharmacological agent-based attenuation of EGFR, FAK or Graf (ARHGAP26)/small GTPase-mediated pathways markedly mitigated the aggressiveness of glioblastoma cells. 26377974 2015
CUI: C0376545
Disease: Hematologic Neoplasms
Hematologic Neoplasms
0.010 GeneticVariation group BEFREE The particular position of the human GRAF gene at 5q31 and the proposed antiproliferative and tumor suppressor properties of its avian homologue suggest that it also might be pathogenetically relevant for hematologic malignancies with deletions of 5q. 10908648 2000
CUI: C0019196
Disease: Hepatitis C
Hepatitis C
0.100 GeneticVariation disease GWASCAT Impact of IFNL4 Genetic Variants on Sustained Virologic Response and Viremia in Hepatitis C Virus Genotype 3 Patients. 31260374 2019