rs28933082, HOXD13

N. diseases: 2
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Syndactyly, type 2
CUI: C2699746
Disease: Syndactyly, type 2
0.800 GeneticVariation UNIPROT A homozygous HOXD13 missense mutation causes a severe form of synpolydactyly with metacarpal to carpal transformation. 26581570 2016
Syndactyly, type 2
CUI: C2699746
Disease: Syndactyly, type 2
0.800 GeneticVariation UNIPROT Mutations in the homeodomain of HOXD13 cause syndactyly type 1-c in two Chinese families. 24789103 2014
Syndactyly, type 2
CUI: C2699746
Disease: Syndactyly, type 2
0.800 GeneticVariation UNIPROT A 72-year-old Danish puzzle resolved--comparative analysis of phenotypes in families with different-sized HOXD13 polyalanine expansions. 16222680 2005
Syndactyly, type 2
CUI: C2699746
Disease: Syndactyly, type 2
0.800 GeneticVariation UNIPROT Severe digital abnormalities in a patient heterozygous for both a novel missense mutation in HOXD13 and a polyalanine tract expansion in HOXA13. 12414828 2002
Syndactyly, type 2
CUI: C2699746
Disease: Syndactyly, type 2
0.800 GeneticVariation UNIPROT Genomic structure of HOXD13 gene: a nine polyalanine duplication causes synpolydactyly in two unrelated families. 8817328 1996
Syndactyly, type 2
CUI: C2699746
Disease: Syndactyly, type 2
0.800 CausalMutation CLINVAR
Syndactyly, type 2
CUI: C2699746
Disease: Syndactyly, type 2
0.800 CausalMutation CLINVAR
Syndactyly, Type I
CUI: C1861380
Disease: Syndactyly, Type I
0.010 GeneticVariation BEFREE Mutations (p.R306Q and p.R306G) in the homeodomain of HOXD13 cause SD1-c. 24789103 2014