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SIX3 - SIX homeobox 3
- Synonym(s) :
- Previous symbols and names : HPE2, holoprosencephaly 2, alobar or semilobar, sine oculis homeobox homolog 3 (Drosophila)
- Type : gene with protein product
- Chromosomal location : 2p21
- OMIM: 603714
- HGNC: 10889
- UniProtKB: O95343
- Genatlas: SIX3
- GenCC: SIX3
- Ensembl: ENSG00000138083
- IUPHAR-DB: -
- Reactome: O95343
- LOVD: SIX3
Diseases list
- Disease-causing germline mutation(s) in Alobar holoprosencephaly
ORPHA:93925 
- Disease-causing germline mutation(s) in Lobar holoprosencephaly
ORPHA:93924 - Disease-causing germline mutation(s) in Microform holoprosencephaly
ORPHA:280200 - Disease-causing germline mutation(s) in Midline interhemispheric variant of holoprosencephaly
ORPHA:93926 - Disease-causing germline mutation(s) in Semilobar holoprosencephaly
ORPHA:220386 - Disease-causing germline mutation(s) in Septopreoptic holoprosencephaly
ORPHA:280195 - Major susceptibility factor in Acquired schizencephaly
ORPHA:485275
: AssessedAdditional information
Patient-centred resources for this gene
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