rs779027563, CNTNAP1

N. diseases: 58
Disease: Peripheral hypomyelination ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Peripheral hypomyelination
CUI: C4024927
Disease: Peripheral hypomyelination
0.700 GeneticVariation CLINVAR Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy. 27668699 2017