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PTCH1 - patched 1
- Synonym(s) : BCNS
- Previous symbols and names : NBCCS, PTCH, patched (Drosophila) homolog, patched (drosophila) homolog, patched homolog (Drosophila), patched homolog (drosophila), patched homolog 1 (Drosophila), patched homolog 1 (drosophila)
- Type : gene with protein product
- Chromosomal location : 9q22.32
- OMIM: 601309
- HGNC: 9585
- UniProtKB: Q13635
- Genatlas: PTCH1
- GenCC: PTCH1
- Ensembl: ENSG00000185920
- IUPHAR-DB: -
- Reactome: Q13635
- LOVD: PTCH1
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 - Disease-causing germline mutation(s) (loss of function) in Gorlin syndrome
ORPHA:377 - Role in the phenotype of Monosomy 9q22.3
ORPHA:77301 - Role in the phenotype of Schilbach-Rott syndrome
ORPHA:2353
: AssessedAdditional information
Patient-centred resources for this gene
Research activities on this gene
Specialised Social Services
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