Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 112476
Gene Symbol: PRRT2
PRRT2 		0.700 CausalMutation disease CLINVAR The evolving spectrum of PRRT2-associated paroxysmal diseases. 26598493 2015
Entrez Id: 112476
Gene Symbol: PRRT2
PRRT2 		0.700 Biomarker disease GENOMICS_ENGLAND Mutations in PRRT2 responsible for paroxysmal kinesigenic dyskinesias also cause benign familial infantile convulsions. 22399141 2012
Entrez Id: 112476
Gene Symbol: PRRT2
PRRT2 		0.700 CausalMutation disease CLINVAR Mutations in PRRT2 result in paroxysmal dyskinesias with marked variability in clinical expression. 22209761 2012
Entrez Id: 112476
Gene Symbol: PRRT2
PRRT2 		0.700 GeneticVariation disease UNIPROT Mutations in PRRT2 responsible for paroxysmal kinesigenic dyskinesias also cause benign familial infantile convulsions. 22399141 2012
Entrez Id: 112476
Gene Symbol: PRRT2
PRRT2 		0.700 Biomarker disease GENOMICS_ENGLAND PRRT2 mutations: a major cause of paroxysmal kinesigenic dyskinesia in the European population. 22744660 2012
Entrez Id: 112476
Gene Symbol: PRRT2
PRRT2 		0.700 GeneticVariation disease UNIPROT PRRT2 mutations cause benign familial infantile epilepsy and infantile convulsions with choreoathetosis syndrome. 22243967 2012
Entrez Id: 112476
Gene Symbol: PRRT2
PRRT2 		0.700 CausalMutation disease CLINVAR Targeted genomic sequencing identifies PRRT2 mutations as a cause of paroxysmal kinesigenic choreoathetosis. 22131361 2012
Entrez Id: 112476
Gene Symbol: PRRT2
PRRT2 		0.700 GeneticVariation disease UNIPROT PRRT2 mutations are the major cause of benign familial infantile seizures. 22623405 2012
Entrez Id: 112476
Gene Symbol: PRRT2
PRRT2 		0.700 Biomarker disease GENOMICS_ENGLAND Exome sequencing identifies truncating mutations in PRRT2 that cause paroxysmal kinesigenic dyskinesia. 22101681 2011
Entrez Id: 112476
Gene Symbol: PRRT2
PRRT2 		0.700 CausalMutation disease CLINVAR Exome sequencing identifies truncating mutations in PRRT2 that cause paroxysmal kinesigenic dyskinesia. 22101681 2011
Entrez Id: 112476
Gene Symbol: PRRT2
PRRT2 		0.700 CausalMutation disease CLINVAR Identification of PRRT2 as the causative gene of paroxysmal kinesigenic dyskinesias. 22120146 2011
Entrez Id: 112476
Gene Symbol: PRRT2
PRRT2 		0.700 Biomarker disease CTD_human
Entrez Id: 112476
Gene Symbol: PRRT2
PRRT2 		0.700 GeneticVariation disease CLINVAR
Entrez Id: 81865
Gene Symbol: BFIC2
BFIC2 		0.010 Biomarker disease BEFREE The BFIC1 (MIM601764), BFIC2 (MIM605751) and BFIC4 (MIM612627) loci have been mapped to chromosome 19q, 16p and 1p, respectively, while BFIC3 (MIM607745) is caused by mutations in SCN2A on chromosome 2q24. 22399141 2012
Entrez Id: 100271922
Gene Symbol: BFIS4
BFIS4 		0.010 GeneticVariation disease BEFREE The BFIC1 (MIM601764), BFIC2 (MIM605751) and BFIC4 (MIM612627) loci have been mapped to chromosome 19q, 16p and 1p, respectively, while BFIC3 (MIM607745) is caused by mutations in SCN2A on chromosome 2q24. 22399141 2012