Disease: BRACHYDACTYLY, TYPE B1 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1862112
Disease: BRACHYDACTYLY, TYPE B1
BRACHYDACTYLY, TYPE B1 		0.700 GeneticVariation disease BEFREE Mutations in the human receptor tyrosine kinase ROR2 are associated with Robinow syndrome (RRS) and brachydactyly type B1. 30801848 2019
CUI: C1862112
Disease: BRACHYDACTYLY, TYPE B1
BRACHYDACTYLY, TYPE B1 		0.700 GeneticVariation disease BEFREE In humans, mutations in the ROR2 gene cause two distinct developmental syndromes, recessive Robinow syndrome (RRS; MIM 268310) and dominant brachydactyly type B1 (BDB1; MIM 113000). 28236965 2017
CUI: C1862112
Disease: BRACHYDACTYLY, TYPE B1
BRACHYDACTYLY, TYPE B1 		0.700 GeneticVariation disease BEFREE BDB1 is caused by mutations in the receptor tyrosine kinase gene ROR2, which maps to chromosome 9q22, whereas BDB2 is caused by point mutations in the bone morphogenetic protein antagonist NOGGIN. 24954533 2014
CUI: C1862112
Disease: BRACHYDACTYLY, TYPE B1
BRACHYDACTYLY, TYPE B1 		0.700 Biomarker disease BEFREE The C-terminus of Ror2, which is deleted in brachydactyly type B (BDB), is essential for the mutual interaction with the SH1 domain of Src. 23142633 2012
CUI: C1862112
Disease: BRACHYDACTYLY, TYPE B1
BRACHYDACTYLY, TYPE B1 		0.700 GeneticVariation disease BEFREE Furthermore, mutations within the human Ror2 gene are responsible for the genetic skeletal disorders dominant brachydactyly type B and recessive Robinow syndrome. 19530173 2010
CUI: C1862112
Disease: BRACHYDACTYLY, TYPE B1
BRACHYDACTYLY, TYPE B1 		0.700 GeneticVariation disease BEFREE To the best of our knowledge, the deletion represents the second ROR2 mutation associated with a BDB1-syndactyly phenotype. 19461659 2009
CUI: C1862112
Disease: BRACHYDACTYLY, TYPE B1
BRACHYDACTYLY, TYPE B1 		0.700 Biomarker disease GENOMICS_ENGLAND To the best of our knowledge, the deletion represents the second ROR2 mutation associated with a BDB1-syndactyly phenotype. 19461659 2009
CUI: C1862112
Disease: BRACHYDACTYLY, TYPE B1
BRACHYDACTYLY, TYPE B1 		0.700 Biomarker disease GENOMICS_ENGLAND A novel subtype of distal symphalangism affecting only the 4th finger. 19533773 2009
CUI: C1862112
Disease: BRACHYDACTYLY, TYPE B1
BRACHYDACTYLY, TYPE B1 		0.700 GeneticVariation disease BEFREE BDB1-causing mutations in ROR2 result from heterozygous premature termination codons (PTCs) in downstream exons and the conveyed phenotype segregates as an autosomal dominant trait, whereas heterozygous missense mutations and PTCs in upstream exons result in carrier status for RRS. 19236432 2009
CUI: C1862112
Disease: BRACHYDACTYLY, TYPE B1
BRACHYDACTYLY, TYPE B1 		0.700 Biomarker disease BEFREE To investigate the apparent discrepancy in phenotypic outcome, we analysed ROR2 protein stability and distribution in stably transfected cell lines expressing exact copies of several human RRS and BDB1 intracellular mutations. 19640924 2009
CUI: C1862112
Disease: BRACHYDACTYLY, TYPE B1
BRACHYDACTYLY, TYPE B1 		0.700 GeneticVariation disease BEFREE Brachydactyly type B (BDB) is an autosomal dominant disease caused by mutations in the ROR2 gene. 19146779 2009
CUI: C1862112
Disease: BRACHYDACTYLY, TYPE B1
BRACHYDACTYLY, TYPE B1 		0.700 GeneticVariation disease BEFREE Mutations in ROR2 result in a spectrum of genetic disorders in humans that are classified, depending on the nature of the mutation and the clinical phenotype, as either autosomal dominant brachydactyly type B (BDB, MIM 113000) or recessive Robinow syndrome (RRS, MIM 268310). 18353862 2008
CUI: C1862112
Disease: BRACHYDACTYLY, TYPE B1
BRACHYDACTYLY, TYPE B1 		0.700 GeneticVariation disease BEFREE Mutations in ROR2 have been shown to cause two distinct human disorders, autosomal recessive Robinow syndrome and dominantly inherited Brachydactyly type B. 17665217 2007
CUI: C1862112
Disease: BRACHYDACTYLY, TYPE B1
BRACHYDACTYLY, TYPE B1 		0.700 GeneticVariation disease BEFREE Cloning and expression pattern of chicken Ror2 and functional characterization of truncating mutations in Brachydactyly type B and Robinow syndrome. 17061261 2006
CUI: C1862112
Disease: BRACHYDACTYLY, TYPE B1
BRACHYDACTYLY, TYPE B1 		0.700 GeneticVariation disease BEFREE Mutation analysis of NOG and ROR2, the genes responsible for proximal symphalangism and brachydactyly type B, respectively, was negative. 11932993 2002
CUI: C1862112
Disease: BRACHYDACTYLY, TYPE B1
BRACHYDACTYLY, TYPE B1 		0.700 GeneticVariation disease BEFREE Heterozygous (presumed gain of function) mutations in ROR2 were previously shown to cause dominant brachydactyly type B (BDB; ref.7). 10932187 2000
CUI: C1862112
Disease: BRACHYDACTYLY, TYPE B1
BRACHYDACTYLY, TYPE B1 		0.700 GeneticVariation disease BEFREE The recent identification of ROR2, encoding an orphan receptor tyrosine kinase, as the gene mutated in brachydactyly type B (BDB1; ref. 10932186 2000
CUI: C1862112
Disease: BRACHYDACTYLY, TYPE B1
BRACHYDACTYLY, TYPE B1 		0.700 GeneticVariation disease BEFREE We report four novel mutations in ROR2 (two frameshifts, one splice mutation, and one nonsense mutation) in five families with BDB. 10986040 2000
CUI: C1862112
Disease: BRACHYDACTYLY, TYPE B1
BRACHYDACTYLY, TYPE B1 		0.700 Biomarker disease HPO
CUI: C1862112
Disease: BRACHYDACTYLY, TYPE B1
BRACHYDACTYLY, TYPE B1 		0.700 Biomarker disease CTD_human
CUI: C1862112
Disease: BRACHYDACTYLY, TYPE B1
BRACHYDACTYLY, TYPE B1 		0.700 CausalMutation disease CLINVAR