NFKBIA, NFKB inhibitor alpha, 4792

N. diseases: 226; N. variants: 19
Disease: Hypodontia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0020608
Disease: Hypodontia
Hypodontia 		0.110 Biomarker disease BEFREE The Brain-Lung-Thyroid syndrome (OMIM#610978; ORPHA:209905) associated with other clinical phenotypes should suggest monoallelic deletions of chromosome 14 causing haploinsufficiency of NKX2-1, and other contiguous genes like PAX9 (hypodontia) or other dosage-sensitive genes in the chromosomal vicinity that emerge as candidates for hypogammaglobulinemia, mainly NFKBIA. 29477862 2018
CUI: C0020608
Disease: Hypodontia
Hypodontia 		0.110 Biomarker disease HPO