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SHH - sonic hedgehog signaling molecule
- Synonym(s) : HHG1, MCOPCB5, SMMCI, TPT, TPTPS
- Previous symbols and names : HLP3, HPE3, Sonic hedgehog homolog (Drosophila), sonic hedgehog (Drosophila) homolog
- Type : gene with protein product
- Chromosomal location : 7q36.3
- OMIM: 600725
- HGNC: 10848
- UniProtKB: Q15465
- Genatlas: SHH
- GenCC: SHH
- Ensembl: ENSG00000164690
- IUPHAR-DB: -
- Reactome: Q15465
- LOVD: SHH
Diseases list
- Disease-causing germline mutation(s) in Alobar holoprosencephaly
ORPHA:93925 
- Disease-causing germline mutation(s) in Autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome
ORPHA:476119 - Disease-causing germline mutation(s) in Colobomatous microphthalmia
ORPHA:98938 - 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 Polydactyly of a triphalangeal thumb
ORPHA:93336 - Disease-causing germline mutation(s) in Radial hemimelia
ORPHA:93321 - Disease-causing germline mutation(s) in Semilobar holoprosencephaly
ORPHA:220386 - Disease-causing germline mutation(s) in Septopreoptic holoprosencephaly
ORPHA:280195 - Disease-causing germline mutation(s) in Syndactyly type 4
ORPHA:93405 - Disease-causing germline mutation(s) in Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome
ORPHA:988 - Major susceptibility factor in Acquired schizencephaly
ORPHA:485275
: AssessedAdditional information
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