NKX3-2, NK3 homeobox 2, 579

N. diseases: 31; N. variants: 4
Disease: Spondylo-Megaepiphyseal-Metaphyseal Dysplasia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2750066
Disease: Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia 		0.720 GeneticVariation disease CLINVAR A novel NKX3-2 mutation associated with perinatal lethal phenotype of spondylo-megaepiphyseal-metaphyseal dysplasia in a neonate. 29704686 2019
CUI: C2750066
Disease: Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia 		0.720 GeneticVariation disease BEFREE SMMD is caused by inactivating mutations in NKX3-2, which encodes a homeobox-containing protein. 29704686 2019
CUI: C2750066
Disease: Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia 		0.720 GeneticVariation disease BEFREE Homozygous inactivating mutations in the NKX3-2 gene result in spondylo-megaepiphyseal-metaphyseal dysplasia. 20004766 2009
CUI: C2750066
Disease: Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia 		0.720 GermlineCausalMutation disease ORPHANET Striking similarities were found when comparing the vertebral ossification defects in SMMD patients with those observed in the Nkx3-2 null mice. 20004766 2009
CUI: C2750066
Disease: Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia 		0.720 Biomarker disease GENOMICS_ENGLAND Molecular cloning, chromosomal mapping and developmental expression of BAPX1, a novel human homeobox-containing gene homologous to Drosophila bagpipe. 9426254 1997
CUI: C2750066
Disease: Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia 		0.720 CausalMutation disease CLINVAR
CUI: C2750066
Disease: Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia 		0.720 Biomarker disease GENOMICS_ENGLAND
CUI: C2750066
Disease: Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia 		0.720 Biomarker disease CTD_human
CUI: C2750066
Disease: Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia 		0.720 Biomarker disease GENOMICS_ENGLAND