HOXA1, homeobox A1, 3198

N. diseases: 95; N. variants: 5
Disease: BRACHYDACTYLY, TYPE D ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0220664
Disease: BRACHYDACTYLY, TYPE D
BRACHYDACTYLY, TYPE D 		0.010 GeneticVariation disease BEFREE This is the first study to report significant linkage results for BDD/BDE using a large extended pedigree, and the first to suggest that mutations in TWIST and/or the HOXA1-A13 cluster may contribute to these specific skeletal anomalies. 24022874 2014