SHOX, short stature homeobox, 6473

N. diseases: 138; N. variants: 16
Disease: Madelung Deformity ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397514461
rs397514461
Entrez Id: 6473
Gene Symbol: SHOX
SHOX
CUI: C0152441
Disease:
Madelung Deformity 		0.020 GeneticVariation BEFREE A170P mutation in SHOX gene in a patient not presenting with Madelung deformity. 22461651 2012
dbSNP: rs397514461
rs397514461
Entrez Id: 6473
Gene Symbol: SHOX
SHOX
CUI: C0152441
Disease:
Madelung Deformity 		0.020 GeneticVariation BEFREE In all studied families, the A170P mutation co-segregated with the fully penetrant phenotype of mesomelic limb shortening and Madelung deformity. 21712857 2011