Source: ALL

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 8241
Gene Symbol: RBM10
RBM10
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation 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
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR Expansion of the TARP syndrome phenotype associated with de novo mutations and mosaicism. 24259342

2014
Entrez Id: 8241
Gene Symbol: RBM10
RBM10
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR RBM10 regulates alternative splicing. 24530524

2014
Entrez Id: 8241
Gene Symbol: RBM10
RBM10
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation 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
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation 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
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR Robin's syndrome. A probably X-linked recessive subvariety exhibiting persistence of left superior vena cava and atrial septal defect. 5410571

1970