Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 8241
Gene Symbol: RBM10
RBM10
0.100 CausalMutation group CLINVAR Clinical diagnostic exome evaluation for an infant with a lethal disorder: genetic diagnosis of TARP syndrome and expansion of the phenotype in a patient with a newly reported RBM10 alteration. 28577551 2017
Entrez Id: 8241
Gene Symbol: RBM10
RBM10
0.100 CausalMutation group CLINVAR Expansion of the TARP syndrome phenotype associated with de novo mutations and mosaicism. 24259342 2014
Entrez Id: 8241
Gene Symbol: RBM10
RBM10
0.100 CausalMutation group CLINVAR RBM10 regulates alternative splicing. 24530524 2014
Entrez Id: 8241
Gene Symbol: RBM10
RBM10
0.100 CausalMutation group CLINVAR Long-term survival in TARP syndrome and confirmation of RBM10 as the disease-causing gene. 21910224 2011
Entrez Id: 8241
Gene Symbol: RBM10
RBM10
0.100 CausalMutation group CLINVAR Massively parallel sequencing of exons on the X chromosome identifies RBM10 as the gene that causes a syndromic form of cleft palate. 20451169 2010
Entrez Id: 8241
Gene Symbol: RBM10
RBM10
0.100 CausalMutation group CLINVAR Robin's syndrome. A probably X-linked recessive subvariety exhibiting persistence of left superior vena cava and atrial septal defect. 5410571 1970