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.