CNTNAP2, contactin associated protein 2, 26047

N. diseases: 203; N. variants: 46
Disease: Autoimmune Diseases ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases 		0.050 GeneticVariation group BEFREE We identified 37 published paediatric cases of LGI1 and/or CASPR2 autoimmunity. 31352183 2019
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases 		0.050 Biomarker group BEFREE Syndrome of parkinsonism and ataxia is an important manifestation of CASPR2 autoimmunity where we can offer a definitive treatment. 29264691 2018
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases 		0.050 Biomarker group BEFREE In line with a role of CASPR2 in the mature nervous system, neurological autoimmune diseases have been described in patients without neurodevelopmental disorders but with antibodies directed against CASPR2. 30028556 2018
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases 		0.050 Biomarker group BEFREE LGI1 and CASPR2 neurological autoimmunity in children. 30076629 2018
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases 		0.050 Biomarker group BEFREE Twenty years since the discovery of voltage-gated potassium channel (VGKC)-related autoimmunity; it is currently known that the antibodies are not directed at the VGKC itself but to two closely associated proteins, anti-leucine-rich glioma-inactivated 1 (LGI1) and contactin-associated protein-like 2 (Caspr2). 28248701 2017