NKX3-2, NK3 homeobox 2, 579

N. diseases: 31; N. variants: 4
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
CUI: C0152423
Disease: Congenital small ears
Congenital small ears 		0.300 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: C0878659
Disease: Disproportionate short stature
Disproportionate short stature 		0.300 Biomarker phenotype GENOMICS_ENGLAND
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
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		0.100 Biomarker phenotype HPO
CUI: C0221355
Disease: Macrocephaly
Macrocephaly 		0.100 Biomarker disease HPO
CUI: C0239138
Disease: Hip joint varus deformity - observation
Hip joint varus deformity - observation 		0.100 Biomarker phenotype HPO
CUI: C0265294
Disease: Pyle metaphyseal dysplasia
Pyle metaphyseal dysplasia 		0.100 Biomarker disease HPO
CUI: C0333068
Disease: Flexion contracture
Flexion contracture 		0.100 Biomarker disease HPO
CUI: C0426817
Disease: Short ribs
Short ribs 		0.100 Biomarker phenotype HPO
CUI: C0521525
Disease: Short neck
Short neck 		0.100 Biomarker phenotype HPO
CUI: C0544755
Disease: Genu varum
Genu varum 		0.100 Biomarker phenotype HPO
CUI: C0576093
Disease: Knee joint valgus deformity
Knee joint valgus deformity 		0.100 Biomarker disease HPO
CUI: C1833328
Disease: Enlarged epiphyses
Enlarged epiphyses 		0.100 Biomarker phenotype HPO
CUI: C1838662
Disease: Metaphyseal irregularity
Metaphyseal irregularity 		0.100 Biomarker phenotype HPO
CUI: C1846435
Disease: Disproportionate short-trunk short stature
Disproportionate short-trunk short stature 		0.100 Biomarker phenotype HPO
CUI: C1854928
Disease: Protuberant abdomen
Protuberant abdomen 		0.100 Biomarker phenotype HPO