Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0265205
Disease: Robinow Syndrome
Robinow Syndrome
0.100 GeneticVariation disease BEFREE Whole-exome sequencing identified compound heterozygous variants in ROR2 gene in a fetus with Robinow syndrome. 31617258 2020
CUI: C0265205
Disease: Robinow Syndrome
Robinow Syndrome
0.100 GeneticVariation disease BEFREE Mutations in the ROR2 gene cause autosomal recessive RS (RRS) whereas mutations in WNT5A are responsible for the autosomal dominant (AD) form of RS. 24932600 2014
CUI: C0265205
Disease: Robinow Syndrome
Robinow Syndrome
0.100 Biomarker disease BEFREE In the human, mutations of WNT5A or its receptor ROR2 cause the Robinow syndrome. 23850867 2013
CUI: C0265205
Disease: Robinow Syndrome
Robinow Syndrome
0.100 GeneticVariation disease BEFREE Identification of a novel causative mutation in the ROR2 gene in a Lebanese family with a mild form of recessive Robinow syndrome. 22178368 2012
CUI: C0265205
Disease: Robinow Syndrome
Robinow Syndrome
0.100 GeneticVariation disease BEFREE The deletion does not involve the PTCH1 gene, but instead 30 other gene,s including the ROR2 gene (MIM *602337) which causing both brachydactyly type 1 (MIM #113000) and Robinow syndrome (MIM #268310), and the immunologically active SYK gene (MIM *600085). 21693067 2011
CUI: C0265205
Disease: Robinow Syndrome
Robinow Syndrome
0.100 GeneticVariation disease BEFREE The etiology of dominant Robinow syndrome is unknown; however, the phenotypically more severe autosomal recessive form of Robinow syndrome has been associated with mutations in the orphan tyrosine kinase receptor, ROR2, which has recently been identified as a putative WNT5A receptor. 19918918 2010
CUI: C0265205
Disease: Robinow Syndrome
Robinow Syndrome
0.100 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: C0265205
Disease: Robinow Syndrome
Robinow Syndrome
0.100 Biomarker disease BEFREE A gradient of ROR2 protein stability and membrane localization confers brachydactyly type B or Robinow syndrome phenotypes. 19640924 2009
CUI: C0265205
Disease: Robinow Syndrome
Robinow Syndrome
0.100 GeneticVariation disease BEFREE We report on the clinical and molecular findings of two sib pairs from the same extended family with Robinow syndrome due to a novel intragenic ROR2 deletion involving exons 6 and 7 that could not be detected by sequencing. 18831060 2008
CUI: C0265205
Disease: Robinow Syndrome
Robinow Syndrome
0.100 GeneticVariation disease BEFREE Here we report the identification of two novel mutations in the frizzled-like cysteine-rich domain of ROR2 causing Robinow syndrome. 17665217 2007
CUI: C0265205
Disease: Robinow Syndrome
Robinow Syndrome
0.100 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: C0265205
Disease: Robinow Syndrome
Robinow Syndrome
0.100 Biomarker disease BEFREE The Ror2(-/-) mouse provides a suitable model that may help to explain many of the underlying developmental malformations in individuals with Robinow syndrome. 14745966 2004
CUI: C0265205
Disease: Robinow Syndrome
Robinow Syndrome
0.100 Biomarker disease BEFREE Mutations of the former cause the nevoid basal cell carcinoma syndrome (NBCCS) while mutations in the ROR2 gene have been found both in Robinow syndrome and in brachydactyly type 1B (BDB1). 12548386 2003
CUI: C0265205
Disease: Robinow Syndrome
Robinow Syndrome
0.100 GeneticVariation disease BEFREE The same gene, ROR2, has been shown to cause autosomal dominant brachydactyly B, but it is not known at present whether the autosomal dominant form of Robinow syndrome is also caused by mutations in ROR2. 12011143 2002
CUI: C0265205
Disease: Robinow Syndrome
Robinow Syndrome
0.100 GeneticVariation disease BEFREE In addition, he has vertebral anomalies, brachymelia of the arms, and a ventricular septal defect-features that are reminiscent of Robinow syndrome, which has also been shown to be caused by mutations in ROR2. 10986040 2000