Source: ALL

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 8506
Gene Symbol: CNTNAP1
CNTNAP1
CUI: C0270971
Disease: Floppy infant syndrome
Floppy infant syndrome 		0.010 GeneticVariation BEFREE Two novel variants in CNTNAP1 in two siblings presenting with congenital hypotonia and hypomyelinating neuropathy. 27782105

2017