CNTNAP2, contactin associated protein 2, 26047

N. diseases: 203; N. variants: 46
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.030 Biomarker group BEFREE With the limitations imposed by the low number of cases, differences to published adult cohorts included: absence of faciobrachial dystonic seizures and hyponatremia in patients with LGI1-positive encephalitis; slightly higher proportion of isolated epilepsy syndromes in CASPR2-positive patients; absence of tumour in the whole cohort. 31352183 2019
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.030 Biomarker group BEFREE These results indicate that CASPR2 acts as a tumor suppressor gene in glioma. 20711234 2010
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.030 Biomarker group BEFREE The identification of leucine-rich, glioma inactivated 1 protein and contactin-associated protein-2 as the major targets of potassium channel antibodies, and their associations with different clinical features, begins to explain the diversity of these syndromes; furthermore, detection of contactin-associated protein-2 antibodies should help identify the risk of an underlying tumour and a poor prognosis in future patients. 20663977 2010