Disease: Klein's Syndrome ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Klein's Syndrome
CUI: C0079661
Disease: Klein's Syndrome
0.810 GeneticVariation UNIPROT Homozygous and heterozygous inheritance of PAX3 mutations causes different types of Waardenburg syndrome. 12949970 2003
Klein's Syndrome
CUI: C0079661
Disease: Klein's Syndrome
0.810 GeneticVariation BEFREE A previously described missense mutation in this same codon (Asn47His) is associated with Waardenburg syndrome type 3 (Hoth et al., 1993). 8664898 1996
Klein's Syndrome
CUI: C0079661
Disease: Klein's Syndrome
0.810 GeneticVariation UNIPROT Homozygosity for Waardenburg syndrome. 7726174 1995
Klein's Syndrome
CUI: C0079661
Disease: Klein's Syndrome
0.810 GeneticVariation UNIPROT Mutations in the paired domain of the human PAX3 gene cause Klein-Waardenburg syndrome (WS-III) as well as Waardenburg syndrome type I (WS-I). 8447316 1993
Klein's Syndrome
CUI: C0079661
Disease: Klein's Syndrome
0.810 CausalMutation CLINVAR