Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1300267
Disease: Brachydactyly syndrome type B
Brachydactyly syndrome type B
0.300 GermlineCausalMutation disease ORPHANET Distinct mutations in the receptor tyrosine kinase gene ROR2 cause brachydactyly type B. 10986040 2000
CUI: C1300267
Disease: Brachydactyly syndrome type B
Brachydactyly syndrome type B
0.300 GermlineCausalMutation disease ORPHANET Dominant mutations in ROR2, encoding an orphan receptor tyrosine kinase, cause brachydactyly type B. 10700182 2000