CNTNAP1, contactin associated protein 1, 8506

N. diseases: 166; N. variants: 16
Disease: NEUROPATHY, CONGENITAL HYPOMYELINATING, 3 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4748608
Disease: NEUROPATHY, CONGENITAL HYPOMYELINATING, 3
NEUROPATHY, CONGENITAL HYPOMYELINATING, 3 		0.600 GeneticVariation disease UNIPROT Phenotype of CNTNAP1: a study of patients demonstrating a specific severe congenital hypomyelinating neuropathy with survival beyond infancy. 29511323 2018
CUI: C4748608
Disease: NEUROPATHY, CONGENITAL HYPOMYELINATING, 3
NEUROPATHY, CONGENITAL HYPOMYELINATING, 3 		0.600 GeneticVariation disease UNIPROT CNTNAP1 mutations cause CNS hypomyelination and neuropathy with or without arthrogryposis. 28374019 2017
CUI: C4748608
Disease: NEUROPATHY, CONGENITAL HYPOMYELINATING, 3
NEUROPATHY, CONGENITAL HYPOMYELINATING, 3 		0.600 GeneticVariation disease UNIPROT Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy. 27668699 2017
CUI: C4748608
Disease: NEUROPATHY, CONGENITAL HYPOMYELINATING, 3
NEUROPATHY, CONGENITAL HYPOMYELINATING, 3 		0.600 Biomarker disease GENOMICS_ENGLAND Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy. 27668699 2017
CUI: C4748608
Disease: NEUROPATHY, CONGENITAL HYPOMYELINATING, 3
NEUROPATHY, CONGENITAL HYPOMYELINATING, 3 		0.600 GeneticVariation disease UNIPROT Contactin-Associated Protein 1 (CNTNAP1) Mutations Induce Characteristic Lesions of the Paranodal Region. 27818385 2016
CUI: C4748608
Disease: NEUROPATHY, CONGENITAL HYPOMYELINATING, 3
NEUROPATHY, CONGENITAL HYPOMYELINATING, 3 		0.600 CausalMutation disease CLINVAR
CUI: C4748608
Disease: NEUROPATHY, CONGENITAL HYPOMYELINATING, 3
NEUROPATHY, CONGENITAL HYPOMYELINATING, 3 		0.600 Biomarker disease GENOMICS_ENGLAND
CUI: C4748608
Disease: NEUROPATHY, CONGENITAL HYPOMYELINATING, 3
NEUROPATHY, CONGENITAL HYPOMYELINATING, 3 		0.600 Biomarker disease GENOMICS_ENGLAND