Source: BEFREE

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3239
Gene Symbol: HOXD13
HOXD13
CUI: C4551570
Disease: 2-3 toe syndactyly
2-3 toe syndactyly 		0.110 GeneticVariation BEFREE Polyalanine expansions in HOXD13 cause synpolydactyly, whereas amino acid substitutions in the homeodomain are associated with brachydactyly types D and E. We describe two large Han Chinese families with different limb malformations, one with syndactyly type V and the other with limb features overlapping brachydactyly types A4, D, and E and mild syndactyly of toes 2 and 3. 17236141

2007