DDX25, DEAD-box helicase 25, 29118

N. diseases: 8; N. variants: 2
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.100 GeneticVariation disease GWASCAT Family-based association analyses of imputed genotypes reveal genome-wide significant association of Alzheimer's disease with OSBPL6, PTPRG, and PDCL3. 26830138 2016
CUI: C0004509
Disease: Azoospermia
Azoospermia 		0.030 Biomarker disease BEFREE A missense mutation of R to H at amino acid 242 of GRTH found in 5.8% of a patient population with azoospermia causes loss of the cytoplasmic phospho-GRTH species with preservation of the non-phospho form in transfected cells. 31555207 2019
CUI: C0004509
Disease: Azoospermia
Azoospermia 		0.030 GeneticVariation disease BEFREE Our early studies revealed a missense mutation (R242H) of GRTH in 5.8% of Japanese patient population with azoospermia. 31040297 2019
CUI: C0021364
Disease: Male infertility
Male infertility 		0.030 GeneticVariation phenotype BEFREE In Indian population, this is the first report on association of GRTH gene SNP polymorphism and male infertility and it underscores the significance of GRTH genotypes in modulating the risk of male infertility. 24168058 2014
CUI: C0021364
Disease: Male infertility
Male infertility 		0.030 GeneticVariation phenotype BEFREE The association of GRTH mutations with male infertility underlines the importance of GRTH as a central, post-transcriptional regulator of spermatogenesis. 17889551 2007
CUI: C0004509
Disease: Azoospermia
Azoospermia 		0.030 GeneticVariation disease BEFREE Results of the present study indicate that SNP IVS6+55G-->T and c.852C-->T of GRTH gene may be associated with male infertility with azoospermia or severe oligozoospermia, suggesting that variations in GRTH gene may contribute to susceptibility to spermatogenic impairment in humans. 16293649 2006
CUI: C0021364
Disease: Male infertility
Male infertility 		0.030 GeneticVariation phenotype BEFREE Results of the present study indicate that SNP IVS6+55G-->T and c.852C-->T of GRTH gene may be associated with male infertility with azoospermia or severe oligozoospermia, suggesting that variations in GRTH gene may contribute to susceptibility to spermatogenic impairment in humans. 16293649 2006
CUI: C4021107
Disease: Non-obstructive azoospermia
Non-obstructive azoospermia 		0.010 GeneticVariation disease BEFREE This study evaluated the incidence of GRTH/DDX25 gene mutations in a group of infertile patients with non-obstructive azoospermia (NOA), 85% with a preponderance of Sertoli cells in the seminiferous tubule and 15% with spermatogenic arrest, and compared them to a group of fertile subjects. 17848414 2007
CUI: C0028960
Disease: Oligospermia
Oligospermia 		0.010 GeneticVariation disease BEFREE Results of the present study indicate that SNP IVS6+55G-->T and c.852C-->T of GRTH gene may be associated with male infertility with azoospermia or severe oligozoospermia, suggesting that variations in GRTH gene may contribute to susceptibility to spermatogenic impairment in humans. 16293649 2006
CUI: C2931104
Disease: Hydrolethalus syndrome
Hydrolethalus syndrome 		0.010 GeneticVariation disease BEFREE The linkage disequilibrium (LD) and haplotype analyses of single nucleotide polymorphism (SNP) markers helped to further restrict the HLS locus to 476 kb between genes PKNOX2 and DDX25. 15843405 2005
CUI: C2940786
Disease: Thyroid Hormone Resistance Syndrome
Thyroid Hormone Resistance Syndrome 		0.010 Biomarker disease BEFREE Furthermore, when several clinical parameters of THR were compared in several affected members from two kindreds with GRTH, we found that two cases in one kindred exhibited a high mutant-to-normal hTR beta ratio and had considerably more bone resistance during their development. 8486789 1993
CUI: C4722330
Disease: Generalized Thyroid Hormone Resistance
Generalized Thyroid Hormone Resistance 		0.010 Biomarker disease BEFREE Furthermore, when several clinical parameters of THR were compared in several affected members from two kindreds with GRTH, we found that two cases in one kindred exhibited a high mutant-to-normal hTR beta ratio and had considerably more bone resistance during their development. 8486789 1993