RBM10, RNA binding motif protein 10, 8241

N. diseases: 99; N. variants: 8
Disease: TARP syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1839463
Disease: TARP syndrome
TARP syndrome 		0.770 Biomarker disease BEFREE Interest in RBM10 is rapidly increasing and its clinical importance is highlighted by its identification as the causative agent of TARP syndrome, a developmental condition that significantly impacts affected children. 29274279 2018
CUI: C1839463
Disease: TARP syndrome
TARP syndrome 		0.770 Biomarker disease BEFREE In 2010, RBM10 was identified as the disease-causing gene, and we describe the first adult patient with TARP syndrome at age 28 years, hereby expanding the phenotypic spectrum. 30462380 2018
CUI: C1839463
Disease: TARP syndrome
TARP syndrome 		0.770 GeneticVariation disease BEFREE Mutations in RBM10 are associated with TARP syndrome, an X-linked recessive disorder originally described with cardinal features of talipes equinovarus, atrial septal defect, Robin sequence, and persistent left superior vena cava. 28577551 2017
CUI: C1839463
Disease: TARP syndrome
TARP syndrome 		0.770 GeneticVariation disease BEFREE Mutations in the spliceosomal RNA binding protein RBM10 cause TARP syndrome and are frequently observed in lung adenocarcinoma (LUAD). 28586478 2017
CUI: C1839463
Disease: TARP syndrome
TARP syndrome 		0.770 Biomarker disease BEFREE To uncover the cellular functions of RBM10 in a cell line that is relevant to the phenotype observed in TARP syndrome, we used iCLIP to identify its endogenous RNA targets in a mouse embryonic mandibular cell line. 27763814 2017
CUI: C1839463
Disease: TARP syndrome
TARP syndrome 		0.770 Biomarker disease GENOMICS_ENGLAND The TARP syndrome (Talipes equinovarus, Atrial septal defect, Robin sequence, and Persistent left superior vena cava) is an X-linked disorder that was determined to be caused by mutations in RBM10 in two families, and confirmed in a subsequent case report. 24259342 2014
CUI: C1839463
Disease: TARP syndrome
TARP syndrome 		0.770 GeneticVariation disease BEFREE RBM10 encodes an RNA binding protein.Mutations in RBM10 are known to cause multiple congenital anomaly syndrome in male humans, the TARP syndrome. 24000153 2013
CUI: C1839463
Disease: TARP syndrome
TARP syndrome 		0.770 GermlineCausalMutation disease ORPHANET The mother's heterozygosity for the RBM10 mutation underscored the importance of accurate diagnosis and counseling for TARP syndrome. 21910224 2011
CUI: C1839463
Disease: TARP syndrome
TARP syndrome 		0.770 CausalMutation disease CLINVAR The mother's heterozygosity for the RBM10 mutation underscored the importance of accurate diagnosis and counseling for TARP syndrome. 21910224 2011
CUI: C1839463
Disease: TARP syndrome
TARP syndrome 		0.770 GeneticVariation disease BEFREE The mother's heterozygosity for the RBM10 mutation underscored the importance of accurate diagnosis and counseling for TARP syndrome. 21910224 2011
CUI: C1839463
Disease: TARP syndrome
TARP syndrome 		0.770 Biomarker disease GENOMICS_ENGLAND Here we characterize a second family with TARP syndrome, confirm linkage to Xp11.23-q13.3, perform massively parallel sequencing of X chromosome exons, filter the results via a number of criteria including the linkage region, use a unique algorithm to characterize sequence changes, and show that TARP syndrome is caused by mutations in the RBM10 gene, which encodes RNA binding motif 10. 20451169 2010
CUI: C1839463
Disease: TARP syndrome
TARP syndrome 		0.770 CausalMutation disease CLINVAR Here we characterize a second family with TARP syndrome, confirm linkage to Xp11.23-q13.3, perform massively parallel sequencing of X chromosome exons, filter the results via a number of criteria including the linkage region, use a unique algorithm to characterize sequence changes, and show that TARP syndrome is caused by mutations in the RBM10 gene, which encodes RNA binding motif 10. 20451169 2010
CUI: C1839463
Disease: TARP syndrome
TARP syndrome 		0.770 Biomarker disease GENOMICS_ENGLAND Robin's syndrome. A probably X-linked recessive subvariety exhibiting persistence of left superior vena cava and atrial septal defect. 5410571 1970
CUI: C1839463
Disease: TARP syndrome
TARP syndrome 		0.770 Biomarker disease CTD_human