Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 11133
Gene Symbol: KPTN
KPTN
0.120 GeneticVariation disease BEFREE Novel homozygous mutation in KPTN gene causing a familial intellectual disability-macrocephaly syndrome. 25847626 2015
Entrez Id: 11133
Gene Symbol: KPTN
KPTN
0.120 GeneticVariation disease BEFREE Mutations in KPTN cause macrocephaly, neurodevelopmental delay, and seizures. 24239382 2014
Entrez Id: 11133
Gene Symbol: KPTN
KPTN
0.120 Biomarker disease HPO