Source: ALL

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 50863
Gene Symbol: NTM
NTM
CUI: C0221355
Disease: Macrocephaly
Macrocephaly 		0.010 GeneticVariation BEFREE We identified two patients with Copy Number Variants (CNV) encompassing NTM, one with a large de novo deletion, and a clinical phenotype of JS (including macrocephaly), and a second with a paternally inherited duplication, not consistent with JS. 26334118

2015