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BMPR1B - bone morphogenetic protein receptor type 1B
- Synonym(s) : ALK6, CDw293
- Previous symbols and names : bone morphogenetic protein receptor, type IB
- Type : gene with protein product
- Chromosomal location : 4q22.3
- OMIM: 603248
- HGNC: 1077
- UniProtKB: O00238
- Genatlas: BMPR1B
- GenCC: BMPR1B
- Ensembl: ENSG00000138696
- IUPHAR-DB: 1789
- Reactome: O00238
- LOVD: BMPR1B
Diseases list
- Disease-causing germline mutation(s) in Brachydactyly type A2
ORPHA:93396 
- Disease-causing germline mutation(s) in Fibular aplasia-complex brachydactyly syndrome
ORPHA:2639 - Disease-causing germline mutation(s) (loss of function) in Acromesomelic dysplasia, Grebe type
ORPHA:2098 - Disease-causing germline mutation(s) (loss of function) in Brachydactyly type A1
ORPHA:93388 - Candidate gene tested in Brachydactyly type C
ORPHA:93384
: AssessedAdditional information
Patient-centred resources for this gene
Research activities on this gene
Specialised Social Services
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