CNTNAP1, contactin associated protein 1, 8506

N. diseases: 166; N. variants: 16
Disease: Elevated brain lactate level by MRS ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs779027563
rs779027563
Entrez Id: 8506
Gene Symbol: CNTNAP1
CNTNAP1
CUI: C4022762
Disease:
Elevated brain lactate level by MRS 		C 0.700 GeneticVariation CLINVAR Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy. 27668699 2017