Rare disease: Semilobar holoprosencephaly (Orphanet code 220386)
Associated genes:
Name: STAG2 cohesin complex component
Symbol: STAG2
Synonyms: lang: en
text: Cohesin subunit SA-2
lang: en
text: SA-2
lang: en
text: SA2
lang: en
text: SA2 stromalin
lang: en
text: SCC3B
lang: en
text: sister chromatid cohesion 3 homolog (S. cerevisiae) B
GeneType: Name: gene with protein product
Name: fibroblast growth factor receptor 1
Symbol: FGFR1
Synonyms: lang: en
text: BFGFR
lang: en
text: CD331
lang: en
text: CEK
lang: en
text: FLG
lang: en
text: H2
lang: en
text: H3
lang: en
text: H4
lang: en
text: H5
lang: en
text: N-SAM
lang: en
text: Pfeiffer syndrome
GeneType: Name: gene with protein product
Name: structural maintenance of chromosomes 1A
Symbol: SMC1A
Synonyms: lang: en
text: DXS423E
lang: en
text: KIAA0178
lang: en
text: SB1.8
lang: en
text: Smcb
GeneType: Name: gene with protein product
Name: STIL centriolar assembly protein
Symbol: STIL
Synonyms: lang: en
text: MCPH7
GeneType: Name: gene with protein product
Name: patched 1
Symbol: PTCH1
Synonyms: lang: en
text: BCNS
GeneType: Name: gene with protein product
Name: sonic hedgehog signaling molecule
Symbol: SHH
Synonyms: lang: en
text: HHG1
lang: en
text: MCOPCB5
lang: en
text: SMMCI
lang: en
text: TPT
lang: en
text: TPTPS
GeneType: Name: gene with protein product
Name: SIX homeobox 3
Symbol: SIX3
GeneType: Name: gene with protein product
Name: TGFB induced factor homeobox 1
Symbol: TGIF1
GeneType: Name: gene with protein product
Name: Zic family member 2
Symbol: ZIC2
Synonyms: lang: en
text: HPE5
lang: en
text: Zinc finger protein of the cerebellum 2
GeneType: Name: gene with protein product
Name: GLI family zinc finger 2
Symbol: GLI2
Synonyms: lang: en
text: HPE9
lang: en
text: THP1
lang: en
text: THP2
lang: en
text: tax helper protein 1
lang: en
text: tax helper protein 2
lang: en
text: tax-responsive element-2 holding protein
GeneType: Name: gene with protein product
Name: cripto, EGF-CFC family member
Symbol: CRIPTO
Synonyms: lang: en
text: CR
lang: en
text: CR-1
lang: en
text: Cripto-1
GeneType: Name: gene with protein product
Name: forkhead box H1
Symbol: FOXH1
Synonyms: lang: en
text: FAST1
lang: en
text: forkhead activin signal transducer-1
GeneType: Name: gene with protein product
Name: fibroblast growth factor 8
Symbol: FGF8
Synonyms: lang: en
text: AIGF
lang: en
text: androgen-induced growth factor
GeneType: Name: gene with protein product
Name: dispatched RND transporter family member 1
Symbol: DISP1
Synonyms: lang: en
text: DISPA
lang: en
text: DKFZP434I0428
lang: en
text: MGC13130
lang: en
text: MGC16796
GeneType: Name: gene with protein product
Name: cell adhesion associated, oncogene regulated
Symbol: CDON
Synonyms: lang: en
text: CDO
lang: en
text: CDON1
lang: en
text: Ihog
lang: en
text: ORCAM
lang: en
text: cell adhesion molecule-related/down-regulated by oncogenes
GeneType: Name: gene with protein product
Name: nodal growth differentiation factor
Symbol: NODAL
GeneType: Name: gene with protein product
Name: delta like canonical Notch ligand 1
Symbol: DLL1
GeneType: Name: gene with protein product
Name: growth arrest specific 1
Symbol: GAS1
Synonyms: lang: en
text: Growth arrest-specific gene-1
GeneType: Name: gene with protein product