BRDT, bromodomain testis associated, 676

N. diseases: 17; N. variants: 3
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs754258809
rs754258809
Entrez Id: 676
Gene Symbol: BRDT
BRDT
CUI: C4022698
Disease:
Acephalic spermatozoa 		0.010 GeneticVariation BEFREE Furthermore, by Gene Ontology analysis, the upregulated genes in p.G928D cells were enriched in the processes of intracellular transport, RNA splicing, cell cycle and DNA metabolic process, revealing the underlying mechanism of the pathology that leads to acephalic spermatozoa. 28199965 2017
dbSNP: rs3088232
rs3088232
Entrez Id: 676
Gene Symbol: BRDT
BRDT
CUI: C4021107
Disease:
Non-obstructive azoospermia 		0.010 GeneticVariation BEFREE Further assessment of rs3088232 frequency in a large group of non-obstructive azoospermia men and fertile controls demonstrated no significant difference between them (27.2 and 21.7% respectively; p = 0.122, Fisher's exact test). 24865796 2014
dbSNP: rs754258809
rs754258809
Entrez Id: 676
Gene Symbol: BRDT
BRDT
CUI: C4539991
Disease:
SPERMATOGENIC FAILURE 21 		0.700 GeneticVariation UNIPROT Whole-exome sequencing identified a homozygous BRDT mutation in a patient with acephalic spermatozoa. 28199965 2017
dbSNP: rs781375003
rs781375003
Entrez Id: 676
Gene Symbol: BRDT
BRDT
CUI: C0278701
Disease:
Gastric Adenocarcinoma 		0.700 GeneticVariation UNIPROT