SIX2, SIX homeobox 2, 10736

N. diseases: 79; N. variants: 1
Disease: Frontonasal dysplasia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1876203
Disease: Frontonasal dysplasia
Frontonasal dysplasia 		0.020 GeneticVariation disease BEFREE SIX1 and SIX2 encode closely related transcription factors of which disruptions have been associated with distinct craniofacial syndromes, with mutations in SIX1 associated with branchiootic syndrome 3 (BOS3) and heterozygous deletions of SIX2 associated with frontonasal dysplasia defects. 30905259 2019
CUI: C1876203
Disease: Frontonasal dysplasia
Frontonasal dysplasia 		0.020 GeneticVariation disease BEFREE We report the first human autosomal dominant frontonasal dysplasia syndrome associated with SIX2 deletion and with phenotypic similarities to murine models of Six2 Loss-of-function. 26581443 2016