Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0008073
Disease: Developmental Disabilities
Developmental Disabilities 		0.300 Biomarker group CTD_human A genotype-first approach for the molecular and clinical characterization of uncommon de novo microdeletion of 20q13.33. 20805988 2010
CUI: C0027765
Disease: nervous system disorder
nervous system disorder 		0.300 Biomarker group CTD_human A genotype-first approach for the molecular and clinical characterization of uncommon de novo microdeletion of 20q13.33. 20805988 2010
CUI: C0085996
Disease: Child Development Deviations
Child Development Deviations 		0.300 Biomarker disease CTD_human A genotype-first approach for the molecular and clinical characterization of uncommon de novo microdeletion of 20q13.33. 20805988 2010
CUI: C0085997
Disease: Child Development Disorders, Specific
Child Development Disorders, Specific 		0.300 Biomarker disease CTD_human A genotype-first approach for the molecular and clinical characterization of uncommon de novo microdeletion of 20q13.33. 20805988 2010
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.010 Biomarker disease BEFREE Small ArfGAP1 (stromal membrane-associated protein 1, SMAP1), a GTPase-activating protein specific for ADP-ribosylation factor 6 (Arf6), which is a small GTPase acting on membrane trafficking and actin remodeling, is frequently mutated in various tumors displaying microsatellite instability (MSI), notably in MSI colorectal cancers (CRC). 23752192 2014
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.010 GeneticVariation group BEFREE Small ArfGAP1 (stromal membrane-associated protein 1, SMAP1), a GTPase-activating protein specific for ADP-ribosylation factor 6 (Arf6), which is a small GTPase acting on membrane trafficking and actin remodeling, is frequently mutated in various tumors displaying microsatellite instability (MSI), notably in MSI colorectal cancers (CRC). 23752192 2014
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.010 Biomarker disease BEFREE ArfGAP1 may represent a promising target for interfering with LRRK2-dependent neurodegeneration in familial and sporadic PD. 22363216 2012
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.010 Biomarker disease BEFREE ArfGAP1 may represent a promising target for interfering with LRRK2-dependent neurodegeneration in familial and sporadic PD. 22363216 2012