DisGeNET - a database of gene-disease associations

rs28933082, HOXD13

N. diseases: 2

Disease: Syndactyly, Type I ×

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

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.

2014