DNAH17, dynein axonemal heavy chain 17, 8632

N. diseases: 11; N. variants: 11
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0205682
Disease: Waist-Hip Ratio
Waist-Hip Ratio
0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C0022661
Disease: Kidney Failure, Chronic
Kidney Failure, Chronic
0.100 GeneticVariation disease GWASCAT Genome-Wide Association Studies of Metabolites in Patients with CKD Identify Multiple Loci and Illuminate Tubular Transport Mechanisms. 29545352 2018
CUI: C1561643
Disease: Chronic Kidney Diseases
Chronic Kidney Diseases
0.100 GeneticVariation group GWASCAT Genome-Wide Association Studies of Metabolites in Patients with CKD Identify Multiple Loci and Illuminate Tubular Transport Mechanisms. 29545352 2018
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.100 GeneticVariation disease GWASCAT Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia. 27903959 2017
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement
0.100 GeneticVariation phenotype GWASCAT Amerindian-specific regions under positive selection harbour new lipid variants in Latinos. 24886709 2014
CUI: C0349588
Disease: Short stature
Short stature
0.100 GeneticVariation phenotype CLINVAR
CUI: C0021364
Disease: Male infertility
Male infertility
0.020 GeneticVariation phenotype BEFREE Altogether, we first report that a homozygous DNAH17 missense variant specifically induces doublets 4-7 destabilization and consequently causes asthenozoospermia, providing a novel marker for genetic counseling and diagnosis of male infertility. 31658987 2020
CUI: C0403823
Disease: Asthenozoospermia
Asthenozoospermia
0.020 GeneticVariation disease BEFREE Altogether, we first report that a homozygous DNAH17 missense variant specifically induces doublets 4-7 destabilization and consequently causes asthenozoospermia, providing a novel marker for genetic counseling and diagnosis of male infertility. 31658987 2020
CUI: C0021364
Disease: Male infertility
Male infertility
0.020 GeneticVariation phenotype BEFREE Overall, this study demonstrates that mutations in DNAH17 are responsible for isolated male infertility and provides information regarding ODA composition in human spermatozoa. 31178125 2019
CUI: C0403823
Disease: Asthenozoospermia
Asthenozoospermia
0.020 Biomarker disease BEFREE DNAH17 is associated with asthenozoospermia and multiple morphological abnormalities of sperm flagella. 31841227 2019
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.010 AlteredExpression disease BEFREE DNMT inhibitor decitabine treatment could increase the expression of DNAH17 in HCC cell lines. 30575322 2019
CUI: C2242635
Disease: Tumour thrombosis
Tumour thrombosis
0.010 Biomarker disease BEFREE These findings suggested that aberrant methylation of DNAH17 was associated with comprehensive HCC clinicopathological factors and could be a promising biomarker for tumor thrombosis in HCC patients. 30575322 2019
CUI: C3163918
Disease: Tumor thrombus
Tumor thrombus
0.010 AlteredExpression phenotype BEFREE Receiver operator characteristic (ROC) curve analysis demonstrated the methylation levels of DNAH17 could efficiently predict the existence of the fibrous capsule (AUC = 0.695) and tumor thrombus (AUC = 0.806). 30575322 2019