CNTNAP1, contactin associated protein 1, 8506

N. diseases: 166; N. variants: 16
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4225386
Disease: LETHAL CONGENITAL CONTRACTURE SYNDROME 7
LETHAL CONGENITAL CONTRACTURE SYNDROME 7 		0.700 GeneticVariation disease UNIPROT Two novel variants in CNTNAP1 in two siblings presenting with congenital hypotonia and hypomyelinating neuropathy. 27782105 2017
CUI: C4225386
Disease: LETHAL CONGENITAL CONTRACTURE SYNDROME 7
LETHAL CONGENITAL CONTRACTURE SYNDROME 7 		0.700 GeneticVariation disease CLINVAR Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy. 27668699 2017
CUI: C4225386
Disease: LETHAL CONGENITAL CONTRACTURE SYNDROME 7
LETHAL CONGENITAL CONTRACTURE SYNDROME 7 		0.700 GeneticVariation disease UNIPROT CNTNAP1 mutations cause CNS hypomyelination and neuropathy with or without arthrogryposis. 28374019 2017
CUI: C4225386
Disease: LETHAL CONGENITAL CONTRACTURE SYNDROME 7
LETHAL CONGENITAL CONTRACTURE SYNDROME 7 		0.700 CausalMutation disease CLINVAR
CUI: C4225386
Disease: LETHAL CONGENITAL CONTRACTURE SYNDROME 7
LETHAL CONGENITAL CONTRACTURE SYNDROME 7 		0.700 Biomarker disease GENOMICS_ENGLAND Mutations in CNTNAP1 and ADCY6 are responsible for severe arthrogryposis multiplex congenita with axoglial defects. 24319099 2014
CUI: C4225386
Disease: LETHAL CONGENITAL CONTRACTURE SYNDROME 7
LETHAL CONGENITAL CONTRACTURE SYNDROME 7 		0.700 GeneticVariation disease UNIPROT Mutations in CNTNAP1 and ADCY6 are responsible for severe arthrogryposis multiplex congenita with axoglial defects. 24319099 2014
CUI: C4225386
Disease: LETHAL CONGENITAL CONTRACTURE SYNDROME 7
LETHAL CONGENITAL CONTRACTURE SYNDROME 7 		0.700 GeneticVariation disease UNIPROT Identification of a novel CNTNAP1 mutation causing arthrogryposis multiplex congenita with cerebral and cerebellar atrophy. 28254648 2017
CUI: C4225386
Disease: LETHAL CONGENITAL CONTRACTURE SYNDROME 7
LETHAL CONGENITAL CONTRACTURE SYNDROME 7 		0.700 Biomarker disease GENOMICS_ENGLAND Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy. 27668699 2017
CUI: C4225386
Disease: LETHAL CONGENITAL CONTRACTURE SYNDROME 7
LETHAL CONGENITAL CONTRACTURE SYNDROME 7 		0.700 Biomarker disease CTD_human
CUI: C4225386
Disease: LETHAL CONGENITAL CONTRACTURE SYNDROME 7
LETHAL CONGENITAL CONTRACTURE SYNDROME 7 		0.700 Biomarker disease GENOMICS_ENGLAND Mutations in CNTNAP1 and ADCY6 are responsible for severe arthrogryposis multiplex congenita with axoglial defects. 24319099 2014
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 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 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 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 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 Biomarker disease GENOMICS_ENGLAND
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis 		0.140 Biomarker disease BEFREE These 2 families illustrate severe progressive peripheral demyelinating neuropathy due to the absence of septate paranodal junctions and central hypomyelination with neurodegeneration in CNTNAP1-associated arthrogryposis multiplex congenita. 29882456 2018
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis 		0.140 GeneticVariation disease BEFREE Here we report a consanguineous Arab family from Qatar with three children having an early lethal form of arthrogryposis multiplex congenita and a novel frameshift mutation in CNTNAP1. 28254648 2017
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis 		0.140 GeneticVariation disease BEFREE Homozygous frameshift variants in CNTNAP1 have recently been reported in patients with arthrogryposis and abnormal axon myelination. 27782105 2017
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis 		0.140 GeneticVariation disease BEFREE Mutations in CNTNAP1 and ADCY6 are responsible for severe arthrogryposis multiplex congenita with axoglial defects. 24319099 2014
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis 		0.140 Biomarker disease HPO
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis 		0.140 CausalMutation disease CLINVAR
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy 		0.110 CausalMutation disease CLINVAR