Source: ALL

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0221355
Disease: Macrocephaly
Macrocephaly 		0.110 GeneticVariation BEFREE We diagnosed a patient with NF1 at 25 months of age, before any cutaneous stigmata of this disease had appeared, because we decided to screen for the NF1 gene mutation because of his presentation with multiple JXGs and moderate macrocephaly (2.5 standard deviations) at 9 months of age and JMML diagnosed at 20 months of age. 25516272

2015
Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0221355
Disease: Macrocephaly
Macrocephaly 		0.110 Biomarker HPO