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: C0431363
Disease: Alobar Holoprosencephaly
Alobar Holoprosencephaly
0.500 Biomarker disease CTD_human Mutations in the homeodomain of the human SIX3 gene cause holoprosencephaly. 10369266 1999
CUI: C0431363
Disease: Alobar Holoprosencephaly
Alobar Holoprosencephaly
0.500 GermlineCausalMutation disease ORPHANET