CNTNAP1, contactin associated protein 1, 8506

N. diseases: 166; N. variants: 16
Disease: Hypoplastic fifth fingernail ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4024682
Disease: Hypoplastic fifth fingernail
Hypoplastic fifth fingernail 		0.100 GeneticVariation disease CLINVAR Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy. 27668699 2017