ARMC2, armadillo repeat containing 2, 84071

N. diseases: 21; N. variants: 28
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0021364
Disease: Male infertility
Male infertility 		0.310 GeneticVariation phenotype BEFREE Overall, we showed that bi-allelic mutations in ARMC2 cause male infertility in humans and mice by inducing a typical MMAF phenotype, indicating that this gene is necessary for sperm flagellum structure and assembly. 30686508 2019
CUI: C0021364
Disease: Male infertility
Male infertility 		0.310 Biomarker phenotype MGD
CUI: C0021364
Disease: Male infertility
Male infertility 		0.310 Biomarker phenotype HPO
CUI: C0403823
Disease: Asthenozoospermia
Asthenozoospermia 		0.110 GeneticVariation disease BEFREE Bi-allelic Mutations in ARMC2 Lead to Severe Astheno-Teratozoospermia Due to Sperm Flagellum Malformations in Humans and Mice. 30686508 2019
CUI: C0403823
Disease: Asthenozoospermia
Asthenozoospermia 		0.110 Biomarker disease HPO
CUI: C0005612
Disease: Birth Weight
Birth Weight 		0.100 GeneticVariation phenotype GWASCAT Maternal and fetal genetic effects on birth weight and their relevance to cardio-metabolic risk factors. 31043758 2019
CUI: C0005890
Disease: Body Height
Body Height 		0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C0016529
Disease: Forced expiratory volume function
Forced expiratory volume function 		0.100 GeneticVariation phenotype GWASCAT New genetic signals for lung function highlight pathways and chronic obstructive pulmonary disease associations across multiple ancestries. 30804560 2019
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		0.100 GeneticVariation disease GWASCAT Genetic landscape of chronic obstructive pulmonary disease identifies heterogeneous cell-type and phenotype associations. 30804561 2019
CUI: C1518922
Disease: peak expiratory flow (procedure)
peak expiratory flow (procedure) 		0.100 GeneticVariation phenotype GWASCAT New genetic signals for lung function highlight pathways and chronic obstructive pulmonary disease associations across multiple ancestries. 30804560 2019
CUI: C4706677
Disease: Male infertility with teratozoospermia due to single gene mutation
Male infertility with teratozoospermia due to single gene mutation 		0.100 CausalMutation disease CLINVAR Bi-allelic Mutations in ARMC2 Lead to Severe Astheno-Teratozoospermia Due to Sperm Flagellum Malformations in Humans and Mice. 30686508 2019
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		0.100 GeneticVariation disease GWASCAT Association analyses of more than 140,000 men identify 63 new prostate cancer susceptibility loci. 29892016 2018
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		0.100 GeneticVariation disease GWASCAT Genetic loci associated with chronic obstructive pulmonary disease overlap with loci for lung function and pulmonary fibrosis. 28166215 2017
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		0.100 GeneticVariation disease GWASDB Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array. 23535732 2013
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		0.100 GeneticVariation disease GWASCAT Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array. 23535732 2013
CUI: C0016529
Disease: Forced expiratory volume function
Forced expiratory volume function 		0.100 GeneticVariation phenotype GWASCAT Genome-wide joint meta-analysis of SNP and SNP-by-smoking interaction identifies novel loci for pulmonary function. 23284291 2012
CUI: C0016529
Disease: Forced expiratory volume function
Forced expiratory volume function 		0.100 GeneticVariation phenotype GWASDB Genome-wide joint meta-analysis of SNP and SNP-by-smoking interaction identifies novel loci for pulmonary function. 23284291 2012
CUI: C0035227
Disease: Respiratory Function Tests
Respiratory Function Tests 		0.100 GeneticVariation phenotype GWASCAT Genome-wide joint meta-analysis of SNP and SNP-by-smoking interaction identifies novel loci for pulmonary function. 23284291 2012
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.100 GeneticVariation phenotype GWASDB Seventy-five genetic loci influencing the human red blood cell. 23222517 2012
CUI: C0035227
Disease: Respiratory Function Tests
Respiratory Function Tests 		0.100 GeneticVariation phenotype GWASCAT Genome-wide association and large-scale follow up identifies 16 new loci influencing lung function. 21946350 2011
CUI: C0231921
Disease: Pulmonary function
Pulmonary function 		0.100 GeneticVariation phenotype GWASDB Genome-wide association and large-scale follow up identifies 16 new loci influencing lung function. 21946350 2011
CUI: C3160731
Disease: Pulmonary function (finding)
Pulmonary function (finding) 		0.100 GeneticVariation phenotype GWASDB Genome-wide association and large-scale follow up identifies 16 new loci influencing lung function. 21946350 2011
CUI: C0028960
Disease: Oligospermia
Oligospermia 		0.100 Biomarker disease HPO
CUI: C2208973
Disease: Tapered sperm head
Tapered sperm head 		0.100 Biomarker phenotype HPO
CUI: C4022699
Disease: Sperm tail anomaly
Sperm tail anomaly 		0.100 CausalMutation phenotype CLINVAR