HOXD13, homeobox D13, 3239

N. diseases: 259; N. variants: 19
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 		0.700 Biomarker disease CTD_human Human HOX gene disorders. 24239177 2014
CUI: C0220664
Disease: BRACHYDACTYLY, TYPE D
BRACHYDACTYLY, TYPE D 		0.700 Biomarker disease GENOMICS_ENGLAND Mutations in HOXD13 underlie syndactyly type V and a novel brachydactyly-syndactyly syndrome. 17236141 2007
CUI: C0220664
Disease: BRACHYDACTYLY, TYPE D
BRACHYDACTYLY, TYPE D 		0.700 GeneticVariation disease UNIPROT Missense mutations in the homeodomain of HOXD13 are associated with brachydactyly types D and E. 12649808 2003
CUI: C0220664
Disease: BRACHYDACTYLY, TYPE D
BRACHYDACTYLY, TYPE D 		0.700 Biomarker disease GENOMICS_ENGLAND Missense mutations in the homeodomain of HOXD13 are associated with brachydactyly types D and E. 12649808 2003
CUI: C0220664
Disease: BRACHYDACTYLY, TYPE D
BRACHYDACTYLY, TYPE D 		0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C0220664
Disease: BRACHYDACTYLY, TYPE D
BRACHYDACTYLY, TYPE D 		0.700 CausalMutation disease CLINVAR
CUI: C0220664
Disease: BRACHYDACTYLY, TYPE D
BRACHYDACTYLY, TYPE D 		0.700 Biomarker disease HPO