Condition: NEUROPATHY, CONGENITAL HYPOMYELINATING, 3


rs761805324 in CNTNAP1 gene and NEUROPATHY, CONGENITAL HYPOMYELINATING, 3 PMID 27668699 2017 Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy.

PMID 29511323 2018 Phenotype of CNTNAP1: a study of patients demonstrating a specific severe congenital hypomyelinating neuropathy with survival beyond infancy.

PMID 27818385 2016 Contactin-Associated Protein 1 (CNTNAP1) Mutations Induce Characteristic Lesions of the Paranodal Region.

PMID 28374019 2017 CNTNAP1 mutations cause CNS hypomyelination and neuropathy with or without arthrogryposis.

rs11154178 in LOC105377982;TRDN gene and NEUROPATHY, CONGENITAL HYPOMYELINATING, 3 PMID 28672053 2017 A genome-wide association study suggests that MAPK14 is associated with diabetic foot ulcers.

rs80028505 in MAPK14 gene and NEUROPATHY, CONGENITAL HYPOMYELINATING, 3 PMID 28672053 2017 A genome-wide association study suggests that MAPK14 is associated with diabetic foot ulcers.

rs3761980 in MAPK14;SLC26A8 gene and NEUROPATHY, CONGENITAL HYPOMYELINATING, 3 PMID 28672053 2017 A genome-wide association study suggests that MAPK14 is associated with diabetic foot ulcers.

rs28485846 in UNC5D gene and NEUROPATHY, CONGENITAL HYPOMYELINATING, 3 PMID 28672053 2017 A genome-wide association study suggests that MAPK14 is associated with diabetic foot ulcers.