SIX1, SIX homeobox 1, 6495

N. diseases: 200; N. variants: 12
Disease: Preauricular dimple ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0266610
Disease: Preauricular dimple
Preauricular dimple 		0.110 GeneticVariation disease BEFREE Herein, we identified a novel mutation in SIX1 (p.E125K) in a Tunisian family with variable HI and preauricular pits. 21700001 2011
CUI: C0266610
Disease: Preauricular dimple
Preauricular dimple 		0.110 Biomarker disease HPO
CUI: C0266610
Disease: Preauricular dimple
Preauricular dimple 		0.110 GeneticVariation disease CLINVAR