NKX3-2, NK3 homeobox 2, 579

N. diseases: 31; N. variants: 4
Disease: Abnormality of the skeletal system ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4021790
Disease: Abnormality of the skeletal system
Abnormality of the skeletal system 		0.100 GeneticVariation disease CLINVAR A novel NKX3-2 mutation associated with perinatal lethal phenotype of spondylo-megaepiphyseal-metaphyseal dysplasia in a neonate. 29704686 2019