IQSEC2, IQ motif and Sec7 domain ArfGEF 2, 23096

N. diseases: 155; N. variants: 33
Disease: Encephalopathies ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0085584
Disease: Encephalopathies
Encephalopathies 		0.030 Biomarker group BEFREE Correction: IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients. 30279470 2019
CUI: C0085584
Disease: Encephalopathies
Encephalopathies 		0.030 Biomarker group BEFREE IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients. 30206421 2019
CUI: C0085584
Disease: Encephalopathies
Encephalopathies 		0.030 GeneticVariation group BEFREE An IQSEC2 nonsense variant was detected in the female ID patient, providing further evidence for a role of this gene in encephalopathy in females. 25649377 2015