SIX3, SIX homeobox 3, 6496

N. diseases: 117; N. variants: 14
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1864827
Disease: HOLOPROSENCEPHALY 5
HOLOPROSENCEPHALY 5
0.300 Biomarker disease GENOMICS_ENGLAND A new mutation in the six-domain of SIX3 gene causes holoprosencephaly. 11039582 2000