Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1507149
Disease: Partial chromosome Y deletion
Partial chromosome Y deletion
0.300 GeneticVariation phenotype ORPHANET Genetic dissection of the AZF regions of the human Y chromosome: thriller or filler for male (in)fertility? 20671934 2010
Male sterility due to Y-chromosome deletions
0.300 GeneticVariation phenotype ORPHANET Genetic dissection of the AZF regions of the human Y chromosome: thriller or filler for male (in)fertility? 20671934 2010
CUI: C1507149
Disease: Partial chromosome Y deletion
Partial chromosome Y deletion
0.300 GeneticVariation phenotype ORPHANET The human Y chromosome's azoospermia factor b (AZFb) region: sequence, structure, and deletion analysis in infertile men. 12525536 2003
Male sterility due to Y-chromosome deletions
0.300 GeneticVariation phenotype ORPHANET The human Y chromosome's azoospermia factor b (AZFb) region: sequence, structure, and deletion analysis in infertile men. 12525536 2003
Spermatogenic Failure, Nonobstructive, Y-Linked
0.300 Biomarker disease CTD_human
CUI: C4021107
Disease: Non-obstructive azoospermia
Non-obstructive azoospermia
0.110 GeneticVariation disease BEFREE To investigate the associations of autosomal and X-chromosome homologs of the RNA-binding-motif (RNA-binding-motif on the Y chromosome, RBMY) gene with non-obstructive azoospermia (NOA), as genetic factors for NOA may map to chromosomes other than the Y chromosome. 16491274 2006
CUI: C0004509
Disease: Azoospermia
Azoospermia
0.110 Biomarker disease BEFREE Deletion of RBM and DAZ in azoospermia: evaluation by PRINS. 11807882 2002
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism
0.110 GeneticVariation disease BEFREE Polymerase chain reaction (PCR) amplification of 51 DNA loci encompassing all of the regions for azoospermia factor (AZF) of the Y chromosome, including the deleted in azoospermia (DAZ) and ribonucleic acid-binding motif (RBM) genes, were examined for microdeletions in 10 PWS males with cryptorchidism and 20 healthy control male subjects. 11869370 2002
CUI: C0028960
Disease: Oligospermia
Oligospermia
0.110 Biomarker disease BEFREE The RBM gene was deleted in two patients with Sertoli cell only who had particularly large deletions, but in no patients with arrest or hypospermatogenesis. 11532470 2001
CUI: C0004509
Disease: Azoospermia
Azoospermia
0.110 Biomarker disease HPO
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism
0.110 Biomarker disease HPO
CUI: C0028960
Disease: Oligospermia
Oligospermia
0.110 Biomarker disease HPO
CUI: C4021107
Disease: Non-obstructive azoospermia
Non-obstructive azoospermia
0.110 Biomarker disease HPO
CUI: C0021364
Disease: Male infertility
Male infertility
0.100 Biomarker phenotype HPO
CUI: C0241355
Disease: Small testicle
Small testicle
0.100 Biomarker phenotype HPO
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.020 Biomarker disease BEFREE Although RNA binding motif (RBM) proteins are closely related to various cancers, the clinical importance and underlying mechanisms of RBM8A in HCC remain elusive. 28259942 2017
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.020 Biomarker disease BEFREE The expression of mRNA corresponding to BRMS1, BCL2, BAX, CASP3 and the apoptosis-related X-chromosome RNA binding motif (RBM) genes (RBMX, RBM3, RBM10 small and large variant) was studied by means of differential RT-PCR in 94 samples obtained from previously untreated patients with breast carcinoma. 21737612 2011
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.020 Biomarker disease BEFREE From these results, it seems that the X-chromosome, through its RBM genes, plays a formerly unknown role in the regulation of programmed cell death (apoptosis) in breast cancer. 16552754 2006
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.020 GeneticVariation disease BEFREE HBV integrant of one HCC tissue (1217T) was integrated into a RNA binding motif Y chromosome (RBMY) gene. 12376959 2002
Myelodysplastic-Myeloproliferative Diseases
0.010 GeneticVariation group BEFREE Three patients were diagnosed with myelodysplastic/myeloproliferative neoplasm (MDS/MPN), while 61 revealed a "reactive" bone marrow ("RBM" group). 31102331 2019
CUI: C3463824
Disease: MYELODYSPLASTIC SYNDROME
MYELODYSPLASTIC SYNDROME
0.010 Biomarker group BEFREE Statistical analysis revealed significant differences in Hb, RDW-CV%, NRBC%, and RET% values between the "MDS" and the "RBM" group. 31102331 2019
CUI: C0014457
Disease: Eosinophilia
Eosinophilia
0.010 Biomarker disease BEFREE Airway inflammation (eosinophilic/neutrophilic) and remodeling were not present in wheezers at a mean age of 12 months, but in older pre-school children (mean 2.5 years), remodeling (mainly increased reticular basement membrane [RBM] thickness and increased area of airway smooth muscle) and also airway eosinophilia was reported.This was worse in school-age children. 29469196 2018
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder)
0.010 GeneticVariation disease BEFREE In conclusion, <i>RBM 10</i> mutation at exon 10 (c.763 C>T) occurs frequently and is an independent prognostic predictor in lung adenocarcinoma. 30405763 2018
CUI: C1306759
Disease: Eosinophilic disorder
Eosinophilic disorder
0.010 Biomarker group BEFREE Airway inflammation (eosinophilic/neutrophilic) and remodeling were not present in wheezers at a mean age of 12 months, but in older pre-school children (mean 2.5 years), remodeling (mainly increased reticular basement membrane [RBM] thickness and increased area of airway smooth muscle) and also airway eosinophilia was reported.This was worse in school-age children. 29469196 2018
CUI: C0549473
Disease: Thyroid carcinoma
Thyroid carcinoma
0.010 GeneticVariation disease BEFREE Vemurafenib-resistance via de novo RBM genes mutations and chromosome 5 aberrations is overcome by combined therapy with palbociclib in thyroid carcinoma with BRAF<sup>V600E</sup>. 29156680 2017