PAX3, paired box 3, 5077

N. diseases: 257; N. variants: 62
Disease: Deformity of limb ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0239337
Disease: Deformity of limb
Deformity of limb 		0.020 GeneticVariation group BEFREE Crosses of white-spotted mice showed that homozygosity for the mutation caused tail and limb abnormalities and embryonic lethality as a result of exencephaly; these phenotypes were analogous to those found in other Pax3 mutants. 28381738 2017
CUI: C0239337
Disease: Deformity of limb
Deformity of limb 		0.020 GeneticVariation group BEFREE Although homozygosity or compound heterozygosity has also been documented in patients with severe limb involvement, a consistent genotype-phenotype correlation for limb abnormalities associated with heterozygous PAX3 mutations has not previously been apparent. 11683776 2001