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: 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