Name

COPD14 Gene

Chronic obstructive pulmonary disease QTL 14

COPD3 Gene

Chronic obstructive pulmonary disease QTL 3

COPD2 Gene

Chronic obstructive pulmonary disease QTL 2

COPD1 Gene

Chronic obstructive pulmonary disease QTL 1

COPD6 Gene

Chronic obstructive pulmonary disease QTL 6

COPD5 Gene

Chronic obstructive pulmonary disease QTL 5

COPD4 Gene

Chronic obstructive pulmonary disease QTL 4

COPD8 Gene

Chronic obstructive pulmonary disease QTL 8

COPD17 Gene

Chronic obstructive pulmonary disease QTL 17

COPD7 Gene

Chronic obstructive pulmonary disease QTL 7

COPD9 Gene

Chronic obstructive pulmonary disease QTL 9

COPD13 Gene

Chronic obstructive pulmonary disease QTL 13

COPD12 Gene

Chronic obstructive pulmonary disease QTL 12

COPD11 Gene

Chronic obstructive pulmonary disease QTL 11

COPD10 Gene

Chronic obstructive pulmonary disease QTL 10

COPD16 Gene

Chronic obstructive pulmonary disease QTL 16

COPD15 Gene

Chronic obstructive pulmonary disease QTL 15

COPD19 Gene

Chronic obstructive pulmonary disease QTL 19

COPD18 Gene

Chronic obstructive pulmonary disease QTL 18

COPD Gene

Pulmonary disease, chronic obstructive, severe early-onset

COPD28 Gene

Chronic obstructive pulmonary disease QTL 28

COPD29 Gene

Chronic obstructive pulmonary disease QTL 29

COPD22 Gene

Chronic obstructive pulmonary disease QTL 22

COPD23 Gene

Chronic obstructive pulmonary disease QTL 23

COPD20 Gene

Chronic obstructive pulmonary disease QTL 20

COPD21 Gene

Chronic obstructive pulmonary disease QTL 21

COPD26 Gene

Chronic obstructive pulmonary disease QTL 26

COPD27 Gene

Chronic obstructive pulmonary disease QTL 27

COPD24 Gene

Chronic obstructive pulmonary disease QTL 24

COPD25 Gene

Chronic obstructive pulmonary disease QTL 25

Obstructive Ventilatory Defect Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Obstructive Ventilatory Defect in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Ventilatory Defect Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Ventilatory Defect in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Restrictive Ventilatory Defect Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Restrictive Ventilatory Defect in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

ventilatory Gene Set

From GeneRIF Biological Term Annotations

genes co-occuring with the biological term ventilatory in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.

Ventilatory Threshold Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Ventilatory Threshold in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Chronic Obstructive Asthma (With Obstructive Pulmonary Disease) Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Chronic Obstructive Asthma (With Obstructive Pulmonary Disease) in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Left ventricular obstructive tract defect (inherited effect) Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Left ventricular obstructive tract defect (inherited effect) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Left ventricular obstructive tract defect (maternal effect) Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Left ventricular obstructive tract defect (maternal effect) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Pulmonary Disease, Chronic Obstructive Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Pulmonary Disease, Chronic Obstructive from the curated CTD Gene-Disease Associations dataset.

Jaundice, Obstructive Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Jaundice, Obstructive from the curated CTD Gene-Disease Associations dataset.

Sleep Apnea, Obstructive Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Sleep Apnea, Obstructive from the curated CTD Gene-Disease Associations dataset.

Lung Diseases, Obstructive Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Lung Diseases, Obstructive from the curated CTD Gene-Disease Associations dataset.

Pulmonary Disease, Chronic Obstructive Gene Set

From dbGAP Gene-Trait Associations

genes associated with the trait Pulmonary Disease, Chronic Obstructive in GWAS and other genetic association datasets from the dbGAP Gene-Trait Associations dataset.

obstructive lung disease Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores

genes involed in the disease obstructive lung disease from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

obstructive lung disease Gene Set

From DISEASES Experimental Gene-Disease Association Evidence Scores

genes associated with the disease obstructive lung disease in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores dataset.

chronic obstructive pulmonary disease Gene Set

From DISEASES Experimental Gene-Disease Association Evidence Scores

genes associated with the disease chronic obstructive pulmonary disease in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores dataset.

obstructive hydrocephalus Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

genes co-occuring with the disease obstructive hydrocephalus in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

obstructive jaundice Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

genes co-occuring with the disease obstructive jaundice in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

obstructive lung disease Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

genes co-occuring with the disease obstructive lung disease in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

chronic obstructive pulmonary disease Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

genes co-occuring with the disease chronic obstructive pulmonary disease in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

hypertension; inflammation; obesity; sleep apnea, obstructive Gene Set

From GAD Gene-Disease Associations

genes associated with the disease hypertension; inflammation; obesity; sleep apnea, obstructive in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

alpha 1-antitrypsin deficiency; lung neoplasms; neoplasm of lung ; pulmonary disease, chronic obstructive Gene Set

From GAD Gene-Disease Associations

genes associated with the disease alpha 1-antitrypsin deficiency; lung neoplasms; neoplasm of lung ; pulmonary disease, chronic obstructive in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

hypertension, pulmonary; pulmonary disease, chronic obstructive Gene Set

From GAD Gene-Disease Associations

genes associated with the disease hypertension, pulmonary; pulmonary disease, chronic obstructive in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

muscular atrophy; pulmonary disease, chronic obstructive Gene Set

From GAD Gene-Disease Associations

genes associated with the disease muscular atrophy; pulmonary disease, chronic obstructive in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

chronic obstructive pulmonary disease/copd; bronchiectatic disease Gene Set

From GAD Gene-Disease Associations

genes associated with the disease chronic obstructive pulmonary disease/copd; bronchiectatic disease in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

alpha 1-antitrypsin deficiency; bronchitis, chronic; chronic bronchitis ; pulmonary disease, chronic obstructive Gene Set

From GAD Gene-Disease Associations

genes associated with the disease alpha 1-antitrypsin deficiency; bronchitis, chronic; chronic bronchitis ; pulmonary disease, chronic obstructive in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

occupational diseases; pulmonary disease, chronic obstructive Gene Set

From GAD Gene-Disease Associations

genes associated with the disease occupational diseases; pulmonary disease, chronic obstructive in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

cardiovascular diseases; sleep apnea, obstructive Gene Set

From GAD Gene-Disease Associations

genes associated with the disease cardiovascular diseases; sleep apnea, obstructive in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

chronic obstructive pulmonary disease/copd Gene Set

From GAD Gene-Disease Associations

genes associated with the disease chronic obstructive pulmonary disease/copd in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

airway obstruction; alpha 1-antitrypsin deficiency; pulmonary disease, chronic obstructive Gene Set

From GAD Gene-Disease Associations

genes associated with the disease airway obstruction; alpha 1-antitrypsin deficiency; pulmonary disease, chronic obstructive in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

chronic obstructive airways disease. Gene Set

From GAD Gene-Disease Associations

genes associated with the disease chronic obstructive airways disease. in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

alpha 1-antitrypsin deficiency; pulmonary disease, chronic obstructive; pulmonary emphysema Gene Set

From GAD Gene-Disease Associations

genes associated with the disease alpha 1-antitrypsin deficiency; pulmonary disease, chronic obstructive; pulmonary emphysema in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

myocardial infarct; asthma; thromboembolism, venous; chronic obstructive pulmonary disease/copd Gene Set

From GAD Gene-Disease Associations

genes associated with the disease myocardial infarct; asthma; thromboembolism, venous; chronic obstructive pulmonary disease/copd in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

asthma; pulmonary disease, chronic obstructive; pulmonary emphysema Gene Set

From GAD Gene-Disease Associations

genes associated with the disease asthma; pulmonary disease, chronic obstructive; pulmonary emphysema in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

nephropathy, congenital obstructive Gene Set

From GAD Gene-Disease Associations

genes associated with the disease nephropathy, congenital obstructive in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

chronic obstructive pulmonary disease Gene Set

From GAD Gene-Disease Associations

genes associated with the disease chronic obstructive pulmonary disease in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

anoxia; hypercapnia; hypertension, pulmonary; pulmonary disease, chronic obstructive Gene Set

From GAD Gene-Disease Associations

genes associated with the disease anoxia; hypercapnia; hypertension, pulmonary; pulmonary disease, chronic obstructive in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

copd ; chronic obstructive pulmonary disease Gene Set

From GAD Gene-Disease Associations

genes associated with the disease copd ; chronic obstructive pulmonary disease in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

bronchial hyperreactivity; pulmonary disease, chronic obstructive Gene Set

From GAD Gene-Disease Associations

genes associated with the disease bronchial hyperreactivity; pulmonary disease, chronic obstructive in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

alpha 1-antitrypsin deficiency; lung diseases, obstructive Gene Set

From GAD Gene-Disease Associations

genes associated with the disease alpha 1-antitrypsin deficiency; lung diseases, obstructive in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

inflammation; pulmonary disease, chronic obstructive Gene Set

From GAD Gene-Disease Associations

genes associated with the disease inflammation; pulmonary disease, chronic obstructive in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

asthma; dermatitis, atopic; eczema allergic; pulmonary disease, chronic obstructive Gene Set

From GAD Gene-Disease Associations

genes associated with the disease asthma; dermatitis, atopic; eczema allergic; pulmonary disease, chronic obstructive in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

alpha 1-antitrypsin deficiency; pulmonary disease, chronic obstructive Gene Set

From GAD Gene-Disease Associations

genes associated with the disease alpha 1-antitrypsin deficiency; pulmonary disease, chronic obstructive in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

lung diseases, obstructive; scleroderma, systemic; systemic scleroderma Gene Set

From GAD Gene-Disease Associations

genes associated with the disease lung diseases, obstructive; scleroderma, systemic; systemic scleroderma in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

lupus erythematosus; chronic obstructive pulmonary disease/copd Gene Set

From GAD Gene-Disease Associations

genes associated with the disease lupus erythematosus; chronic obstructive pulmonary disease/copd in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

emphysema; pulmonary disease, chronic obstructive; substance-related disorders Gene Set

From GAD Gene-Disease Associations

genes associated with the disease emphysema; pulmonary disease, chronic obstructive; substance-related disorders in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

hypertension; sleep apnea, obstructive; snoring Gene Set

From GAD Gene-Disease Associations

genes associated with the disease hypertension; sleep apnea, obstructive; snoring in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

bronchiectasis; bronchitis; bronchitis unspecified; emphysema; lung diseases, obstructive Gene Set

From GAD Gene-Disease Associations

genes associated with the disease bronchiectasis; bronchitis; bronchitis unspecified; emphysema; lung diseases, obstructive in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

sleep apnea, obstructive; sleep deprivation Gene Set

From GAD Gene-Disease Associations

genes associated with the disease sleep apnea, obstructive; sleep deprivation in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

cardiovascular diseases; pulmonary disease, chronic obstructive Gene Set

From GAD Gene-Disease Associations

genes associated with the disease cardiovascular diseases; pulmonary disease, chronic obstructive in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

asthma; dermatitis, atopic; chronic obstructive pulmonary disease Gene Set

From GAD Gene-Disease Associations

genes associated with the disease asthma; dermatitis, atopic; chronic obstructive pulmonary disease in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

cardiovascular diseases; kidney failure, acute; postoperative complications; pulmonary disease, chronic obstructive Gene Set

From GAD Gene-Disease Associations

genes associated with the disease cardiovascular diseases; kidney failure, acute; postoperative complications; pulmonary disease, chronic obstructive in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

emphysema; pulmonary disease, chronic obstructive Gene Set

From GAD Gene-Disease Associations

genes associated with the disease emphysema; pulmonary disease, chronic obstructive in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

asthenia; pulmonary disease, chronic obstructive Gene Set

From GAD Gene-Disease Associations

genes associated with the disease asthenia; pulmonary disease, chronic obstructive in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

sleep apnea, obstructive Gene Set

From GAD Gene-Disease Associations

genes associated with the disease sleep apnea, obstructive in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

cystic fibrosis; chronic bronchopulmonary diseases; chronic obstructive pulmonary disease/copd; 21-hydroxylase deficiency Gene Set

From GAD Gene-Disease Associations

genes associated with the disease cystic fibrosis; chronic bronchopulmonary diseases; chronic obstructive pulmonary disease/copd; 21-hydroxylase deficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

cystic fibrosis; chronic bronchopulmonary diseases; chronic obstructive pulmonary disease/copd Gene Set

From GAD Gene-Disease Associations

genes associated with the disease cystic fibrosis; chronic bronchopulmonary diseases; chronic obstructive pulmonary disease/copd in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

asthma; chronic obstructive pulmonary disease/copd Gene Set

From GAD Gene-Disease Associations

genes associated with the disease asthma; chronic obstructive pulmonary disease/copd in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

alpha 1-antitrypsin deficiency; liver diseases; pulmonary disease, chronic obstructive Gene Set

From GAD Gene-Disease Associations

genes associated with the disease alpha 1-antitrypsin deficiency; liver diseases; pulmonary disease, chronic obstructive in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

pulmonary disease, chronic obstructive Gene Set

From GAD Gene-Disease Associations

genes associated with the disease pulmonary disease, chronic obstructive in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

cardiovascular diseases; hyperlipidemias; hypertension; obesity; sleep apnea, obstructive Gene Set

From GAD Gene-Disease Associations

genes associated with the disease cardiovascular diseases; hyperlipidemias; hypertension; obesity; sleep apnea, obstructive in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

obstructive pulmonary disease and disseminated bronchiectasis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease obstructive pulmonary disease and disseminated bronchiectasis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

pulmonary disease, chronic obstructive; pulmonary emphysema Gene Set

From GAD Gene-Disease Associations

genes associated with the disease pulmonary disease, chronic obstructive; pulmonary emphysema in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

obesity; sleep apnea, obstructive Gene Set

From GAD Gene-Disease Associations

genes associated with the disease obesity; sleep apnea, obstructive in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

asthma; chronic obstructive pulmonary disease Gene Set

From GAD Gene-Disease Associations

genes associated with the disease asthma; chronic obstructive pulmonary disease in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

asthma; pulmonary disease, chronic obstructive Gene Set

From GAD Gene-Disease Associations

genes associated with the disease asthma; pulmonary disease, chronic obstructive in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

alzheimer's disease; chronic obstructive pulmonary disease/copd Gene Set

From GAD Gene-Disease Associations

genes associated with the disease alzheimer's disease; chronic obstructive pulmonary disease/copd in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

chronic obstructive pulmonary disease ; asthma Gene Set

From GAD Gene-Disease Associations

genes associated with the disease chronic obstructive pulmonary disease ; asthma in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

myocardial infarction; sleep apnea, obstructive Gene Set

From GAD Gene-Disease Associations

genes associated with the disease myocardial infarction; sleep apnea, obstructive in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

cough; dyspnea; pulmonary disease, chronic obstructive Gene Set

From GAD Gene-Disease Associations

genes associated with the disease cough; dyspnea; pulmonary disease, chronic obstructive in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

obstructive sleep apnea syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease obstructive sleep apnea syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

chronic obstructive pulmonary disease/copd; emphysema Gene Set

From GAD Gene-Disease Associations

genes associated with the disease chronic obstructive pulmonary disease/copd; emphysema in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

obstructive Gene Set

From GeneRIF Biological Term Annotations

genes co-occuring with the biological term obstructive in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.

COPD - Chronic obstructive pulmonary disease_Lung Tissue_GSE1650 Gene Set

From GEO Signatures of Differentially Expressed Genes for Diseases

genes differentially expressed during COPD - Chronic obstructive pulmonary disease_Lung Tissue_GSE1650 disease perturbation from the GEO Signatures of Differentially Expressed Genes for Diseases dataset.

COPD - Chronic obstructive pulmonary disease_Bronchial epithelium_GSE3320 Gene Set

From GEO Signatures of Differentially Expressed Genes for Diseases

genes differentially expressed during COPD - Chronic obstructive pulmonary disease_Bronchial epithelium_GSE3320 disease perturbation from the GEO Signatures of Differentially Expressed Genes for Diseases dataset.

COPD - Chronic obstructive pulmonary disease_Muscle - Striated (Skeletal) - Diaphragm (MMHCC)_GSE475 Gene Set

From GEO Signatures of Differentially Expressed Genes for Diseases

genes differentially expressed during COPD - Chronic obstructive pulmonary disease_Muscle - Striated (Skeletal) - Diaphragm (MMHCC)_GSE475 disease perturbation from the GEO Signatures of Differentially Expressed Genes for Diseases dataset.

Obstructive sleep apnea_Hepatic Tissue_GSE1873 Gene Set

From GEO Signatures of Differentially Expressed Genes for Diseases

genes differentially expressed during Obstructive sleep apnea_Hepatic Tissue_GSE1873 disease perturbation from the GEO Signatures of Differentially Expressed Genes for Diseases dataset.

Asthma or chronic obstructive pulmonary disease Gene Set

From GWAS Catalog SNP-Phenotype Associations

genes associated with the Asthma or chronic obstructive pulmonary disease phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset.

Body mass in chronic obstructive pulmonary disease Gene Set

From GWAS Catalog SNP-Phenotype Associations

genes associated with the Body mass in chronic obstructive pulmonary disease phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset.

Chronic obstructive pulmonary disease (severe) Gene Set

From GWAS Catalog SNP-Phenotype Associations

genes associated with the Chronic obstructive pulmonary disease (severe) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset.

Non-obstructive azoospermia Gene Set

From GWAS Catalog SNP-Phenotype Associations

genes associated with the Non-obstructive azoospermia phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset.

Chronic obstructive pulmonary disease Gene Set

From GWAS Catalog SNP-Phenotype Associations

genes associated with the Chronic obstructive pulmonary disease phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset.

Chronic obstructive pulmonary disease (moderate to severe) Gene Set

From GWAS Catalog SNP-Phenotype Associations

genes associated with the Chronic obstructive pulmonary disease (moderate to severe) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset.

Chronic obstructive pulmonary disease-related biomarkers Gene Set

From GWAS Catalog SNP-Phenotype Associations

genes associated with the Chronic obstructive pulmonary disease-related biomarkers phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset.

obstructive lung disease Gene Set

From GWASdb SNP-Disease Associations

genes associated with the disease obstructive lung disease in GWAS and other genetic association datasets from the GWASdb SNP-Disease Associations dataset.

chronic obstructive pulmonary disease Gene Set

From GWASdb SNP-Disease Associations

genes associated with the disease chronic obstructive pulmonary disease in GWAS and other genetic association datasets from the GWASdb SNP-Disease Associations dataset.

non-obstructive azoospermia Gene Set

From GWASdb SNP-Phenotype Associations

genes associated with the non-obstructive azoospermia phenotype in GWAS datasets from the GWASdb SNP-Phenotype Associations dataset.

obstructive lung disease Gene Set

From GWASdb SNP-Phenotype Associations

genes associated with the obstructive lung disease phenotype in GWAS datasets from the GWASdb SNP-Phenotype Associations dataset.

chronic obstructive pulmonary disease Gene Set

From GWASdb SNP-Phenotype Associations

genes associated with the chronic obstructive pulmonary disease phenotype in GWAS datasets from the GWASdb SNP-Phenotype Associations dataset.

chronic obstructive pulmonary disease Gene Set

From HPO Gene-Disease Associations

genes associated with the chronic obstructive pulmonary disease phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

obstructive sleep apnea Gene Set

From HPO Gene-Disease Associations

genes associated with the obstructive sleep apnea phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

obstructive lung disease Gene Set

From HPO Gene-Disease Associations

genes associated with the obstructive lung disease phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Pulmonary Disease, Chronic Obstructive Gene Set

From HuGE Navigator Gene-Phenotype Associations

genes associated with the Pulmonary Disease, Chronic Obstructive phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

Sleep Apnea, Obstructive Gene Set

From HuGE Navigator Gene-Phenotype Associations

genes associated with the Sleep Apnea, Obstructive phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

Lung Diseases, Obstructive Gene Set

From HuGE Navigator Gene-Phenotype Associations

genes associated with the Lung Diseases, Obstructive phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

non-obstructive hydrocephaly Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the non-obstructive hydrocephaly phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

obstructive hydrocephaly Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the obstructive hydrocephaly phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

{pulmonary disease, chronic obstructive, susceptibility to} Gene Set

From OMIM Gene-Disease Associations

genes associated with the {pulmonary disease, chronic obstructive, susceptibility to} phenotype from the curated OMIM Gene-Disease Associations dataset.

pulmonary disease, chronic obstructive, severe early-onset Gene Set

From OMIM Gene-Disease Associations

genes associated with the pulmonary disease, chronic obstructive, severe early-onset phenotype from the curated OMIM Gene-Disease Associations dataset.

Chronic Obstructive Airway Disease Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Chronic Obstructive Airway Disease in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Non-Obstructive Azoospermia Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Non-Obstructive Azoospermia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Hypertrophic Obstructive Cardiomyopathy Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Hypertrophic Obstructive Cardiomyopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Non-Obstructive Reflux-Associated Chronic Pyelonephritis (Disorder) Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Non-Obstructive Reflux-Associated Chronic Pyelonephritis (Disorder) in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Obstructive Sleep Apnea Hypopnea Syndrome Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Obstructive Sleep Apnea Hypopnea Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Obstructive Azoospermia Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Obstructive Azoospermia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Severe Chronic Obstructive Pulmonary Disease Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Severe Chronic Obstructive Pulmonary Disease in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Autoimmune Encephalopathy With Parasomnia And Obstructive Sleep Apnea Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Autoimmune Encephalopathy With Parasomnia And Obstructive Sleep Apnea in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Congenital Obstructive Azoospermia Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Congenital Obstructive Azoospermia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Obstructive Nephropathy Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Obstructive Nephropathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Ahdc1-Related Intellectual Disability, Obstructive Sleep Apnea, Mild Dysmorphism Syndrome Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Ahdc1-Related Intellectual Disability, Obstructive Sleep Apnea, Mild Dysmorphism Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Obstructive Ureterocele Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Obstructive Ureterocele in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Obstructive Chronic Pancreatitis Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Obstructive Chronic Pancreatitis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Obstructive Sleep Apnea Hypopnea Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Obstructive Sleep Apnea Hypopnea in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Obstructive Hydrocephalus Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Obstructive Hydrocephalus in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Obstructive Apnea Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Obstructive Apnea in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Acquired Obstructive Azoospermia Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Acquired Obstructive Azoospermia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Chronic Obstructive Pulmonary Disease Exacerbation Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Chronic Obstructive Pulmonary Disease Exacerbation in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Severe Pediatric Obstructive Sleep Apnea Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Severe Pediatric Obstructive Sleep Apnea in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Moderate Chronic Obstructive Pulmonary Disease Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Moderate Chronic Obstructive Pulmonary Disease in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Congenital Obstructive Hydrocephalus Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Congenital Obstructive Hydrocephalus in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Obstructive Asymmetric Septal Hypertrophy Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Obstructive Asymmetric Septal Hypertrophy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Obstructive Sialadenitis Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Obstructive Sialadenitis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Acute Exacerbation Of Chronic Obstructive Bronchitis Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Acute Exacerbation Of Chronic Obstructive Bronchitis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Obstructive Emphysema Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Obstructive Emphysema in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Acute Obstructive Cholangitis Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Acute Obstructive Cholangitis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Acute Exacerbation Of Chronic Obstructive Airways Disease Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Acute Exacerbation Of Chronic Obstructive Airways Disease in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

non-obstructive hydrocephaly Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the non-obstructive hydrocephaly phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

obstructive hydrocephaly Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the obstructive hydrocephaly phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

Obstructive lung disease Gene Set

From DISEASES Experimental Gene-Disease Association Evidence Scores 2025

genes associated with the disease Obstructive lung disease in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores 2025 dataset.

Chronic obstructive pulmonary disease Gene Set

From DISEASES Experimental Gene-Disease Association Evidence Scores 2025

genes associated with the disease Chronic obstructive pulmonary disease in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores 2025 dataset.

Obstructive sleep apnea Gene Set

From DISEASES Experimental Gene-Disease Association Evidence Scores 2025

genes associated with the disease Obstructive sleep apnea in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores 2025 dataset.

Chronic obstructive pulmonary disease Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Chronic obstructive pulmonary disease in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Obstructive lung disease Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Obstructive lung disease in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Obstructive jaundice Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Obstructive jaundice in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Obstructive sleep apnea Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Obstructive sleep apnea in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Obstructive nephropathy Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Obstructive nephropathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Obstructive hydrocephalus Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Obstructive hydrocephalus in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Obstructive azoospermia Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Obstructive azoospermia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Chronic obstructive pulmonary disease Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Chronic obstructive pulmonary disease phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Non-obstructive azoospermia Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Non-obstructive azoospermia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Chronic obstructive pulmonary disease Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Chronic obstructive pulmonary disease phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Chronic bronchitis and chronic obstructive pulmonary disease Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Chronic bronchitis and chronic obstructive pulmonary disease phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Chronic bronchitis in chronic obstructive pulmonary disease Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Chronic bronchitis in chronic obstructive pulmonary disease phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Obstructive sleep apnea trait (apnea hypopnea index) Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Obstructive sleep apnea trait (apnea hypopnea index) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Obstructive sleep apnea (average oxygen saturation during sleep) Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Obstructive sleep apnea (average oxygen saturation during sleep) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Obstructive sleep apnea trait (average respiratory event duration) Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Obstructive sleep apnea trait (average respiratory event duration) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Body mass index (change over time) in gastrointestinal cancer or chronic obstructive pulmonary disease Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Body mass index (change over time) in gastrointestinal cancer or chronic obstructive pulmonary disease phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Body mass index (change over time) in cancer or chronic obstructive pulmonary disease Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Body mass index (change over time) in cancer or chronic obstructive pulmonary disease phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Body mass index (change over time) in chronic obstructive pulmonary disease Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Body mass index (change over time) in chronic obstructive pulmonary disease phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Body mass index (change over time) in lung cancer or chronic obstructive pulmonary disease Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Body mass index (change over time) in lung cancer or chronic obstructive pulmonary disease phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Obstructive sleep apnea during REM sleep (apnea hypopnea index) Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Obstructive sleep apnea during REM sleep (apnea hypopnea index) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Current cigarettes per day in chronic obstructive pulmonary disease Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Current cigarettes per day in chronic obstructive pulmonary disease phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Chronic obstructive pulmonary disease or high blood pressure (pleiotropy) Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Chronic obstructive pulmonary disease or high blood pressure (pleiotropy) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Chronic obstructive pulmonary disease or resting heart rate (pleiotropy) Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Chronic obstructive pulmonary disease or resting heart rate (pleiotropy) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Chronic obstructive pulmonary disease or coronary artery disease (pleiotropy) Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Chronic obstructive pulmonary disease or coronary artery disease (pleiotropy) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Obstructive sleep apnea Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Obstructive sleep apnea phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Obstructive sleep apnea (BMI adjusted) Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Obstructive sleep apnea (BMI adjusted) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Pulmonary artery enlargement and chronic obstructive pulmonary disease Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Pulmonary artery enlargement and chronic obstructive pulmonary disease phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Pulmonary artery enlargement in chronic obstructive pulmonary disease Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Pulmonary artery enlargement in chronic obstructive pulmonary disease phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Chronic obstructive pulmonary disease (moderate to severe) Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Chronic obstructive pulmonary disease (moderate to severe) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Chronic obstructive pulmonary disease (severe) Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Chronic obstructive pulmonary disease (severe) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Airway responsiveness in chronic obstructive pulmonary disease Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Airway responsiveness in chronic obstructive pulmonary disease phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Asthma or chronic obstructive pulmonary disease Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Asthma or chronic obstructive pulmonary disease phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Chronic obstructive pulmonary disease-related biomarkers Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Chronic obstructive pulmonary disease-related biomarkers phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Cotinine levels in smokers with chronic obstructive pulmonary disease Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Cotinine levels in smokers with chronic obstructive pulmonary disease phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Smoking cessation in chronic obstructive pulmonary disease Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Smoking cessation in chronic obstructive pulmonary disease phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Exhaled carbon monoxide levels in smokers with chronic obstructive pulmonary disease Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Exhaled carbon monoxide levels in smokers with chronic obstructive pulmonary disease phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Asthma-chronic obstructive pulmonary disease overlap syndrome Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Asthma-chronic obstructive pulmonary disease overlap syndrome phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Early chronic obstructive pulmonary disease in never smokers Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Early chronic obstructive pulmonary disease in never smokers phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Non-obstructive azoospermia Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Non-obstructive azoospermia phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Body mass in chronic obstructive pulmonary disease Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Body mass in chronic obstructive pulmonary disease phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Age at smoking initiation in chronic obstructive pulmonary disease Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Age at smoking initiation in chronic obstructive pulmonary disease phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Lifetime average cigarettes per day in chronic obstructive pulmonary disease Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Lifetime average cigarettes per day in chronic obstructive pulmonary disease phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Response to bronchodilator in chronic obstructive pulmonary disease (change in FEV1) Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Response to bronchodilator in chronic obstructive pulmonary disease (change in FEV1) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Change in quality of life in response to fluticasone propionate/salmeterol in chronic obstructive pulmonary disease Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Change in quality of life in response to fluticasone propionate/salmeterol in chronic obstructive pulmonary disease phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Response to fluticasone propionate/salmeterol in chronic obstructive pulmonary disease Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Response to fluticasone propionate/salmeterol in chronic obstructive pulmonary disease phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Chronic obstructive pulmonary disease x ever smoker interaction (2df) Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Chronic obstructive pulmonary disease x ever smoker interaction (2df) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Chronic obstructive pulmonary disease in ever smokers Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Chronic obstructive pulmonary disease in ever smokers phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Chronic obstructive pulmonary disease x current smoker interaction (2df) Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Chronic obstructive pulmonary disease x current smoker interaction (2df) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Chronic obstructive pulmonary disease x ever smoker interaction (1df) Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Chronic obstructive pulmonary disease x ever smoker interaction (1df) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Chronic obstructive pulmonary disease in non-current smokers Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Chronic obstructive pulmonary disease in non-current smokers phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Chronic obstructive pulmonary disease x current smoker interaction (main effect) Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Chronic obstructive pulmonary disease x current smoker interaction (main effect) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Chronic obstructive pulmonary disease x current smoker interaction (1df) Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Chronic obstructive pulmonary disease x current smoker interaction (1df) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Chronic obstructive pulmonary disease in current smokers Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Chronic obstructive pulmonary disease in current smokers phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Dandy-Walker like malformation with atrioventricular septal defect Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Dandy-Walker like malformation with atrioventricular septal defect phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Protan defect Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Protan defect phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cardiac conduction defect, nonspecific Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cardiac conduction defect, nonspecific phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Atrial septal defect 7 with or without atrioventricular conduction defects Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Atrial septal defect 7 with or without atrioventricular conduction defects phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Immunodeficiency, X-Linked, with magnesium defect, Epstein-Barr virus infection, and neoplasia Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Immunodeficiency, X-Linked, with magnesium defect, Epstein-Barr virus infection, and neoplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Phosphate transport defect Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Phosphate transport defect phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Neutral 1 amino acid transport defect Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Neutral 1 amino acid transport defect phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Ventricular septal defect 3 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Ventricular septal defect 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Ventricular septal defect 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Ventricular septal defect 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Atrial septal defect 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Atrial septal defect 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Laron-type isolated somatotropin defect Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Laron-type isolated somatotropin defect phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Neural tube defect Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Neural tube defect phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Atrioventricular septal defect, partial, with heterotaxy syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Atrioventricular septal defect, partial, with heterotaxy syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Bile acid synthesis defect, congenital, 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Bile acid synthesis defect, congenital, 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Bile acid synthesis defect, congenital, 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Bile acid synthesis defect, congenital, 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Glucose-6-phosphate transport defect Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Glucose-6-phosphate transport defect phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Iodotyrosine deiodination defect Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Iodotyrosine deiodination defect phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Thrombophilia due to thrombomodulin defect Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Thrombophilia due to thrombomodulin defect phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Renal carnitine transport defect Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Renal carnitine transport defect phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Atrioventricular septal defect 4 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Atrioventricular septal defect 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Atrioventricular septal defect 5 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Atrioventricular septal defect 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Immunodeficiency due to defect in cd3-zeta Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Immunodeficiency due to defect in cd3-zeta phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Erythrocyte lactate transporter defect Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Erythrocyte lactate transporter defect phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Atrial septal defect 6 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Atrial septal defect 6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Atrial septal defect 4 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Atrial septal defect 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Atrial septal defect 3 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Atrial septal defect 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Homocystinuria-Megaloblastic anemia due to defect in cobalamin metabolism, cblE complementation type Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Homocystinuria-Megaloblastic anemia due to defect in cobalamin metabolism, cblE complementation type phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital defect of folate absorption Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital defect of folate absorption phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Oocyte maturation defect Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Oocyte maturation defect phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Immune dysfunction with T-cell inactivation due to calcium entry defect 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Immune dysfunction with T-cell inactivation due to calcium entry defect 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Immune dysfunction with T-cell inactivation due to calcium entry defect 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Immune dysfunction with T-cell inactivation due to calcium entry defect 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Iodotyrosyl coupling defect Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Iodotyrosyl coupling defect phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Thrombophilia, X-Linked, Due To Factor Ix Defect Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Thrombophilia, X-Linked, Due To Factor Ix Defect from the curated CTD Gene-Disease Associations dataset.

Sacral defect and anterior sacral meningocele Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Sacral defect and anterior sacral meningocele from the curated CTD Gene-Disease Associations dataset.

Homocystinuria-Megaloblastic Anemia due to Defect in Cobalamin Metabolism, CblE Complementation Type Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Homocystinuria-Megaloblastic Anemia due to Defect in Cobalamin Metabolism, CblE Complementation Type from the curated CTD Gene-Disease Associations dataset.

Cardiac Conduction Defect Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Cardiac Conduction Defect from the curated CTD Gene-Disease Associations dataset.

Atrial septal defect 2 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Atrial septal defect 2 from the curated CTD Gene-Disease Associations dataset.

ATRIOVENTRICULAR SEPTAL DEFECT 3 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease ATRIOVENTRICULAR SEPTAL DEFECT 3 from the curated CTD Gene-Disease Associations dataset.

Atrioventricular Septal Defect, Partial, with Heterotaxy Syndrome Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Atrioventricular Septal Defect, Partial, with Heterotaxy Syndrome from the curated CTD Gene-Disease Associations dataset.

Bile acid synthesis defect, congenital, 2 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Bile acid synthesis defect, congenital, 2 from the curated CTD Gene-Disease Associations dataset.

Bile acid synthesis defect, congenital, 4 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Bile acid synthesis defect, congenital, 4 from the curated CTD Gene-Disease Associations dataset.

METHYLMALONIC ACIDURIA DUE TO TRANSCOBALAMIN RECEPTOR DEFECT Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease METHYLMALONIC ACIDURIA DUE TO TRANSCOBALAMIN RECEPTOR DEFECT from the curated CTD Gene-Disease Associations dataset.

Atrial Septal Defect 4 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Atrial Septal Defect 4 from the curated CTD Gene-Disease Associations dataset.

Atrioventricular Canal Defect Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Atrioventricular Canal Defect from the curated CTD Gene-Disease Associations dataset.

Bile acid synthesis defect, congenital, 1 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Bile acid synthesis defect, congenital, 1 from the curated CTD Gene-Disease Associations dataset.

Neural tube defect, folate-sensitive Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Neural tube defect, folate-sensitive from the curated CTD Gene-Disease Associations dataset.

Atrial Septal Defect 6 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Atrial Septal Defect 6 from the curated CTD Gene-Disease Associations dataset.

NATURAL KILLER CELL AND GLUCOCORTICOID DEFICIENCY WITH DNA REPAIR DEFECT Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease NATURAL KILLER CELL AND GLUCOCORTICOID DEFICIENCY WITH DNA REPAIR DEFECT from the curated CTD Gene-Disease Associations dataset.

Immunodeficiency due to Defect in CD3-Zeta Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Immunodeficiency due to Defect in CD3-Zeta from the curated CTD Gene-Disease Associations dataset.

Atrial Septal Defect 5 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Atrial Septal Defect 5 from the curated CTD Gene-Disease Associations dataset.

Atrial Septal Defect 1 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Atrial Septal Defect 1 from the curated CTD Gene-Disease Associations dataset.

Erythrocyte Lactate Transporter Defect Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Erythrocyte Lactate Transporter Defect from the curated CTD Gene-Disease Associations dataset.

Immunodeficiency due to Defect in MAPBP-Interacting Protein Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Immunodeficiency due to Defect in MAPBP-Interacting Protein from the curated CTD Gene-Disease Associations dataset.

Immune dysfunction with T-cell inactivation due to calcium entry defect 1 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Immune dysfunction with T-cell inactivation due to calcium entry defect 1 from the curated CTD Gene-Disease Associations dataset.

Immune dysfunction with T-cell inactivation due to calcium entry defect 2 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Immune dysfunction with T-cell inactivation due to calcium entry defect 2 from the curated CTD Gene-Disease Associations dataset.

ATRIAL SEPTAL DEFECT 7 WITH OR WITHOUT ATRIOVENTRICULAR CONDUCTION DEFECTS Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease ATRIAL SEPTAL DEFECT 7 WITH OR WITHOUT ATRIOVENTRICULAR CONDUCTION DEFECTS from the curated CTD Gene-Disease Associations dataset.

atrial heart septal defect Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores

genes involed in the disease atrial heart septal defect from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

heart septal defect Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores

genes involed in the disease heart septal defect from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

heart septal defect Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

genes co-occuring with the disease heart septal defect in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

ventricular septal defect Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

genes co-occuring with the disease ventricular septal defect in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

alcohol-related birth defect Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

genes co-occuring with the disease alcohol-related birth defect in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

atrioventricular septal defect Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

genes co-occuring with the disease atrioventricular septal defect in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

congenital bile acid synthesis defect Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

genes co-occuring with the disease congenital bile acid synthesis defect in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

atrial heart septal defect Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

genes co-occuring with the disease atrial heart septal defect in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

qualitative platelet defect Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

genes co-occuring with the disease qualitative platelet defect in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

human spermatogenic defect Gene Set

From GAD Gene-Disease Associations

genes associated with the disease human spermatogenic defect in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

defect Gene Set

From GeneRIF Biological Term Annotations

genes co-occuring with the biological term defect in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.

conotruncal defect Gene Set

From GWASdb SNP-Phenotype Associations

genes associated with the conotruncal defect phenotype in GWAS datasets from the GWASdb SNP-Phenotype Associations dataset.

thyroid hormone receptor defect Gene Set

From HPO Gene-Disease Associations

genes associated with the thyroid hormone receptor defect phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

ventricular septal defect Gene Set

From HPO Gene-Disease Associations

genes associated with the ventricular septal defect phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

midline defect of mandible Gene Set

From HPO Gene-Disease Associations

genes associated with the midline defect of mandible phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

vertebral segmentation defect Gene Set

From HPO Gene-Disease Associations

genes associated with the vertebral segmentation defect phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

electron transfer flavoprotein-ubiquinone oxidoreductase defect Gene Set

From HPO Gene-Disease Associations

genes associated with the electron transfer flavoprotein-ubiquinone oxidoreductase defect phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

secundum atrial septal defect Gene Set

From HPO Gene-Disease Associations

genes associated with the secundum atrial septal defect phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

dynein arm defect of respiratory motile cilia Gene Set

From HPO Gene-Disease Associations

genes associated with the dynein arm defect of respiratory motile cilia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

inlet ventricular septal defect Gene Set

From HPO Gene-Disease Associations

genes associated with the inlet ventricular septal defect phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

thyroid defect in oxidation and organification of iodide Gene Set

From HPO Gene-Disease Associations

genes associated with the thyroid defect in oxidation and organification of iodide phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

adrenocorticotropin (acth) receptor (acthr) defect Gene Set

From HPO Gene-Disease Associations

genes associated with the adrenocorticotropin (acth) receptor (acthr) defect phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

sacral segmentation defect Gene Set

From HPO Gene-Disease Associations

genes associated with the sacral segmentation defect phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

abdominal wall defect Gene Set

From HPO Gene-Disease Associations

genes associated with the abdominal wall defect phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

visual field defect Gene Set

From HPO Gene-Disease Associations

genes associated with the visual field defect phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

atrioventricular canal defect with right ventricle aorta and pulmonary atresia Gene Set

From HPO Gene-Disease Associations

genes associated with the atrioventricular canal defect with right ventricle aorta and pulmonary atresia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

muscular ventricular septal defect Gene Set

From HPO Gene-Disease Associations

genes associated with the muscular ventricular septal defect phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

defect in the atrial septum Gene Set

From HPO Gene-Disease Associations

genes associated with the defect in the atrial septum phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

congenital septal defect Gene Set

From HPO Gene-Disease Associations

genes associated with the congenital septal defect phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

skull defect Gene Set

From HPO Gene-Disease Associations

genes associated with the skull defect phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

generalized hypotonia due to defect at the neuromuscular junction Gene Set

From HPO Gene-Disease Associations

genes associated with the generalized hypotonia due to defect at the neuromuscular junction phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

cervical segmentation defect Gene Set

From HPO Gene-Disease Associations

genes associated with the cervical segmentation defect phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

atrioventricular canal defect Gene Set

From HPO Gene-Disease Associations

genes associated with the atrioventricular canal defect phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

perimembranous ventricular septal defect Gene Set

From HPO Gene-Disease Associations

genes associated with the perimembranous ventricular septal defect phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

midline defect of the nose Gene Set

From HPO Gene-Disease Associations

genes associated with the midline defect of the nose phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

complete atrioventricular canal defect Gene Set

From HPO Gene-Disease Associations

genes associated with the complete atrioventricular canal defect phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

large central visual field defect Gene Set

From HPO Gene-Disease Associations

genes associated with the large central visual field defect phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

conotruncal defect Gene Set

From HPO Gene-Disease Associations

genes associated with the conotruncal defect phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

primum atrial septal defect Gene Set

From HPO Gene-Disease Associations

genes associated with the primum atrial septal defect phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Mannose-P-dolichol utilization defect 1 protein Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Mannose-P-dolichol utilization defect 1 protein protein domain from the InterPro Predicted Protein Domain Annotations dataset.

atrial septal defect Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the atrial septal defect phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

ventricular septal defect Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the ventricular septal defect phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

perimembraneous ventricular septal defect Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the perimembraneous ventricular septal defect phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

partial atrioventricular septal defect Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the partial atrioventricular septal defect phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

inlet ventricular septal defect Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the inlet ventricular septal defect phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

double outlet right ventricle with atrioventricular septal defect Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the double outlet right ventricle with atrioventricular septal defect phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

iodide oxidation defect Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the iodide oxidation defect phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

aorticopulmonary septal defect Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the aorticopulmonary septal defect phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

double outlet right ventricle, ventricular defect committed to aorta Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the double outlet right ventricle, ventricular defect committed to aorta phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

muscular ventricular septal defect Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the muscular ventricular septal defect phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

ostium primum atrial septal defect Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the ostium primum atrial septal defect phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

complete atrioventricular septal defect Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the complete atrioventricular septal defect phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

ostium secundum atrial septal defect Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the ostium secundum atrial septal defect phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

atrioventricular septal defect Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the atrioventricular septal defect phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

thrombophilia due to thrombomodulin defect Gene Set

From OMIM Gene-Disease Associations

genes associated with the thrombophilia due to thrombomodulin defect phenotype from the curated OMIM Gene-Disease Associations dataset.

bleeding disorder due to p2rx1 defect Gene Set

From OMIM Gene-Disease Associations

genes associated with the bleeding disorder due to p2rx1 defect phenotype from the curated OMIM Gene-Disease Associations dataset.

schizophrenia, neurophysiologic defect in Gene Set

From OMIM Gene-Disease Associations

genes associated with the schizophrenia, neurophysiologic defect in phenotype from the curated OMIM Gene-Disease Associations dataset.

{atrioventricular septal defect, susceptibility to, 1} Gene Set

From OMIM Gene-Disease Associations

genes associated with the {atrioventricular septal defect, susceptibility to, 1} phenotype from the curated OMIM Gene-Disease Associations dataset.

?isolated growth hormone deficiency due to defect in ghrf Gene Set

From OMIM Gene-Disease Associations

genes associated with the ?isolated growth hormone deficiency due to defect in ghrf phenotype from the curated OMIM Gene-Disease Associations dataset.

erythrocyte lactate transporter defect Gene Set

From OMIM Gene-Disease Associations

genes associated with the erythrocyte lactate transporter defect phenotype from the curated OMIM Gene-Disease Associations dataset.

natural killer cell and glucocorticoid deficiency with dna repair defect Gene Set

From OMIM Gene-Disease Associations

genes associated with the natural killer cell and glucocorticoid deficiency with dna repair defect phenotype from the curated OMIM Gene-Disease Associations dataset.

ventricular septal defect 2 Gene Set

From OMIM Gene-Disease Associations

genes associated with the ventricular septal defect 2 phenotype from the curated OMIM Gene-Disease Associations dataset.

ventricular septal defect 3 Gene Set

From OMIM Gene-Disease Associations

genes associated with the ventricular septal defect 3 phenotype from the curated OMIM Gene-Disease Associations dataset.

selective t-cell defect Gene Set

From OMIM Gene-Disease Associations

genes associated with the selective t-cell defect phenotype from the curated OMIM Gene-Disease Associations dataset.

{hypercholesterolemia, familial, due to ldlr defect, modifier of} Gene Set

From OMIM Gene-Disease Associations

genes associated with the {hypercholesterolemia, familial, due to ldlr defect, modifier of} phenotype from the curated OMIM Gene-Disease Associations dataset.

atrial septal defect 6 Gene Set

From OMIM Gene-Disease Associations

genes associated with the atrial septal defect 6 phenotype from the curated OMIM Gene-Disease Associations dataset.

atrial septal defect 5 Gene Set

From OMIM Gene-Disease Associations

genes associated with the atrial septal defect 5 phenotype from the curated OMIM Gene-Disease Associations dataset.

atrial septal defect 4 Gene Set

From OMIM Gene-Disease Associations

genes associated with the atrial septal defect 4 phenotype from the curated OMIM Gene-Disease Associations dataset.

atrial septal defect 3 Gene Set

From OMIM Gene-Disease Associations

genes associated with the atrial septal defect 3 phenotype from the curated OMIM Gene-Disease Associations dataset.

atrial septal defect 2 Gene Set

From OMIM Gene-Disease Associations

genes associated with the atrial septal defect 2 phenotype from the curated OMIM Gene-Disease Associations dataset.

atrial septal defect 1 Gene Set

From OMIM Gene-Disease Associations

genes associated with the atrial septal defect 1 phenotype from the curated OMIM Gene-Disease Associations dataset.

atrial septal defect 9 Gene Set

From OMIM Gene-Disease Associations

genes associated with the atrial septal defect 9 phenotype from the curated OMIM Gene-Disease Associations dataset.

atrial septal defect 8 Gene Set

From OMIM Gene-Disease Associations

genes associated with the atrial septal defect 8 phenotype from the curated OMIM Gene-Disease Associations dataset.

atrioventricular septal defect, partial, with heterotaxy syndrome Gene Set

From OMIM Gene-Disease Associations

genes associated with the atrioventricular septal defect, partial, with heterotaxy syndrome phenotype from the curated OMIM Gene-Disease Associations dataset.

bile acid synthesis defect, congenital, 1 Gene Set

From OMIM Gene-Disease Associations

genes associated with the bile acid synthesis defect, congenital, 1 phenotype from the curated OMIM Gene-Disease Associations dataset.

bile acid synthesis defect, congenital, 3 Gene Set

From OMIM Gene-Disease Associations

genes associated with the bile acid synthesis defect, congenital, 3 phenotype from the curated OMIM Gene-Disease Associations dataset.

bile acid synthesis defect, congenital, 2 Gene Set

From OMIM Gene-Disease Associations

genes associated with the bile acid synthesis defect, congenital, 2 phenotype from the curated OMIM Gene-Disease Associations dataset.

bile acid synthesis defect, congenital, 4 Gene Set

From OMIM Gene-Disease Associations

genes associated with the bile acid synthesis defect, congenital, 4 phenotype from the curated OMIM Gene-Disease Associations dataset.

ventricular septal defect 1 Gene Set

From OMIM Gene-Disease Associations

genes associated with the ventricular septal defect 1 phenotype from the curated OMIM Gene-Disease Associations dataset.

cardiac conduction defect, nonspecific Gene Set

From OMIM Gene-Disease Associations

genes associated with the cardiac conduction defect, nonspecific phenotype from the curated OMIM Gene-Disease Associations dataset.

rickets due to defect in vitamin d 25-hydroxylation Gene Set

From OMIM Gene-Disease Associations

genes associated with the rickets due to defect in vitamin d 25-hydroxylation phenotype from the curated OMIM Gene-Disease Associations dataset.

{atrioventricular septal defect, susceptibility to, 2} Gene Set

From OMIM Gene-Disease Associations

genes associated with the {atrioventricular septal defect, susceptibility to, 2} phenotype from the curated OMIM Gene-Disease Associations dataset.

oocyte maturation defect Gene Set

From OMIM Gene-Disease Associations

genes associated with the oocyte maturation defect phenotype from the curated OMIM Gene-Disease Associations dataset.

methylmalonic aciduria due to transcobalamin receptor defect Gene Set

From OMIM Gene-Disease Associations

genes associated with the methylmalonic aciduria due to transcobalamin receptor defect phenotype from the curated OMIM Gene-Disease Associations dataset.

atrioventricular septal defect 3 Gene Set

From OMIM Gene-Disease Associations

genes associated with the atrioventricular septal defect 3 phenotype from the curated OMIM Gene-Disease Associations dataset.

atrioventricular septal defect 4 Gene Set

From OMIM Gene-Disease Associations

genes associated with the atrioventricular septal defect 4 phenotype from the curated OMIM Gene-Disease Associations dataset.

atrioventricular septal defect 5 Gene Set

From OMIM Gene-Disease Associations

genes associated with the atrioventricular septal defect 5 phenotype from the curated OMIM Gene-Disease Associations dataset.

thrombophilia, x-linked, due to factor ix defect Gene Set

From OMIM Gene-Disease Associations

genes associated with the thrombophilia, x-linked, due to factor ix defect phenotype from the curated OMIM Gene-Disease Associations dataset.

atrial septal defect 7, with or without av conduction defects Gene Set

From OMIM Gene-Disease Associations

genes associated with the atrial septal defect 7, with or without av conduction defects phenotype from the curated OMIM Gene-Disease Associations dataset.

immunodeficiency due to defect in mapbp-interacting protein Gene Set

From OMIM Gene-Disease Associations

genes associated with the immunodeficiency due to defect in mapbp-interacting protein phenotype from the curated OMIM Gene-Disease Associations dataset.

goiter, familial, due to ttf-1 defect Gene Set

From OMIM Gene-Disease Associations

genes associated with the goiter, familial, due to ttf-1 defect phenotype from the curated OMIM Gene-Disease Associations dataset.

immunodeficiency, x-linked, with magnesium defect, epstein-barr virus infection and neoplasia Gene Set

From OMIM Gene-Disease Associations

genes associated with the immunodeficiency, x-linked, with magnesium defect, epstein-barr virus infection and neoplasia phenotype from the curated OMIM Gene-Disease Associations dataset.

thrombophilia due to thrombin defect Gene Set

From OMIM Gene-Disease Associations

genes associated with the thrombophilia due to thrombin defect phenotype from the curated OMIM Gene-Disease Associations dataset.

{cardiac conduction defect, susceptibility to} Gene Set

From OMIM Gene-Disease Associations

genes associated with the {cardiac conduction defect, susceptibility to} phenotype from the curated OMIM Gene-Disease Associations dataset.

methylmalonic aciduria, vitamin b12-responsive, due to defect in synthesis of adenosylcobalamin, cblb complementation type Gene Set

From OMIM Gene-Disease Associations

genes associated with the methylmalonic aciduria, vitamin b12-responsive, due to defect in synthesis of adenosylcobalamin, cblb complementation type phenotype from the curated OMIM Gene-Disease Associations dataset.

Defective CYP7B1 causes Spastic paraplegia 5A, autosomal recessive (SPG5A) and Congenital bile acid synthesis defect 3 (CBAS3) Gene Set

From Reactome Pathways 2014

proteins participating in the Defective CYP7B1 causes Spastic paraplegia 5A, autosomal recessive (SPG5A) and Congenital bile acid synthesis defect 3 (CBAS3) pathway from the Reactome Pathways dataset.

Histidinuria Renal Tubular Defect Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Histidinuria Renal Tubular Defect in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Bile Acid Synthesis Defect Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Bile Acid Synthesis Defect in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Renal Carnitine Transport Defect Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Renal Carnitine Transport Defect in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Atrioventricular Canal Defect Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Atrioventricular Canal Defect in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Atrioventricular Septal Defect Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Atrioventricular Septal Defect in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Aortopulmonary Septal Defect Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Aortopulmonary Septal Defect in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Atrial Septal Defect Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Atrial Septal Defect in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Ostium Secundum Atrial Septal Defect Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Ostium Secundum Atrial Septal Defect in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Alcohol Related Birth Defect Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Alcohol Related Birth Defect in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Glucose-6-Phosphate Transport Defect Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Glucose-6-Phosphate Transport Defect in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Calvarial Skull Defect Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Calvarial Skull Defect in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Single Ventricle Defect Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Single Ventricle Defect in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Congenital Defect Of Skull And Scalp Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Congenital Defect Of Skull And Scalp in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Coronary Sinus Defect Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Coronary Sinus Defect in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Muscular Ventricular Septum Defect Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Muscular Ventricular Septum Defect in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Perimembranous Ventricular Septal Defect Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Perimembranous Ventricular Septal Defect in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Triple Gene Defect Alpha Thalassemia Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Triple Gene Defect Alpha Thalassemia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Defect Of Vertebral Segmentation Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Defect Of Vertebral Segmentation in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Glycosylphosphatidylinositol Biosynthesis Defect Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Glycosylphosphatidylinositol Biosynthesis Defect in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Cardiac Conduction Defect Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Cardiac Conduction Defect in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Patent Or Persistent Ostium Secundum Defect (Type Ii) Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Patent Or Persistent Ostium Secundum Defect (Type Ii) in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Patent Or Persistent Sinus Venosus Defect Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Patent Or Persistent Sinus Venosus Defect in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Antibody Deficiency Due To Defect In Cd19 Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Antibody Deficiency Due To Defect In Cd19 in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Conotruncal Defect Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Conotruncal Defect in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Ventricular Septal Defect Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Ventricular Septal Defect in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Atrioventricular Septal Defect, Partial, With Heterotaxy Syndrome Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Atrioventricular Septal Defect, Partial, With Heterotaxy Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Partial Defect Of Atrioventricular Canal Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Partial Defect Of Atrioventricular Canal in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Synthetic Defect Of Bile Acids Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Synthetic Defect Of Bile Acids in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Congenital Bile Acid Synthesis Defect Type 3 Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Congenital Bile Acid Synthesis Defect Type 3 in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Transitional Atrioventricular Canal Defect Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Transitional Atrioventricular Canal Defect in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Hereditary Bundle Branch System Defect Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Hereditary Bundle Branch System Defect in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Midline Defect Of The Nose Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Midline Defect Of The Nose in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Thyroid Hormone Plasma Membrane Transport Defect Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Thyroid Hormone Plasma Membrane Transport Defect in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Defect Of Articular Cartilage Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Defect Of Articular Cartilage in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Thoracoabdominal Wall Defect Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Thoracoabdominal Wall Defect in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Pulmonary Atresia With Ventricular Septal Defect Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Pulmonary Atresia With Ventricular Septal Defect in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Membranous Ventricular Septum Defect Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Membranous Ventricular Septum Defect in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Congenital Defect Of The Pericardium Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Congenital Defect Of The Pericardium in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Insulin Receptor, Defect In Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Insulin Receptor, Defect In in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Iodide Transport Defect Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Iodide Transport Defect in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Neural Tube Defect, Folate-Sensitive Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Neural Tube Defect, Folate-Sensitive in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Double Outlet Right Ventricle With Doubly Committed Ventricular Septal Defect And Pulmonary Stenosis Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Double Outlet Right Ventricle With Doubly Committed Ventricular Septal Defect And Pulmonary Stenosis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Adenosylcobalamin Synthesis Defect Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Adenosylcobalamin Synthesis Defect in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Oocyte Maturation Defect Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Oocyte Maturation Defect in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Sacral Defect And Anterior Sacral Meningocele Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Sacral Defect And Anterior Sacral Meningocele in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Renal Tubular Defect Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Renal Tubular Defect in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Congenitally Corrected Transposition Of The Great Arteries With Ventricular Septal Defect Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Congenitally Corrected Transposition Of The Great Arteries With Ventricular Septal Defect in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Cardiac Valvular Defect, Developmental Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Cardiac Valvular Defect, Developmental in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Ulnar-Fibular Ray Defect And Brachydactyly Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Ulnar-Fibular Ray Defect And Brachydactyly in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Cardiac Conduction Defect, Nonprogressive Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Cardiac Conduction Defect, Nonprogressive in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Corneal Defect Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Corneal Defect in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Fibrinolytic Defect Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Fibrinolytic Defect in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Erythrocyte Lactate Transporter Defect Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Erythrocyte Lactate Transporter Defect in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Mondini Defect Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Mondini Defect in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Heart Defect, Tongue Hamartoma And Polysyndactyly Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Heart Defect, Tongue Hamartoma And Polysyndactyly in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Mucociliary Clearance Defect Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Mucociliary Clearance Defect in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Adrenocorticotropin Receptor Defect Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Adrenocorticotropin Receptor Defect in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Color Vision Defect Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Color Vision Defect in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Maturation Defect Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Maturation Defect in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Heart Defect (In Some Patients) Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Heart Defect (In Some Patients) in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Cardiac Conduction Defect Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Cardiac Conduction Defect in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Retinal Defect Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Retinal Defect in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Glaucomatous Visual Field Defect Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Glaucomatous Visual Field Defect in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Dynein Arm Defect Of Respiratory Motile Cilia Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Dynein Arm Defect Of Respiratory Motile Cilia in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Generalized Hypotonia Due To Defect At The Neuromuscular Junction Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Generalized Hypotonia Due To Defect At The Neuromuscular Junction in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Iris Transillumination Defect Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Iris Transillumination Defect in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Iodide Organification Defect Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Iodide Organification Defect in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Electron Transfer Flavoprotein-Ubiquinone Oxidoreductase Defect Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Electron Transfer Flavoprotein-Ubiquinone Oxidoreductase Defect in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Cervical Segmentation Defect Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Cervical Segmentation Defect in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Lacrimal Duct Defect Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Lacrimal Duct Defect in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Large Central Visual Field Defect Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Large Central Visual Field Defect in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Unbalanced Atrioventricular Canal Defect Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Unbalanced Atrioventricular Canal Defect in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Afferent Pupillary Defect Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Afferent Pupillary Defect in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Ventral Septal Defect Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Ventral Septal Defect in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Thyroid Defect In Oxidation And Organification Of Iodide Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Thyroid Defect In Oxidation And Organification Of Iodide in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Activating Thyroid-Stimulating Hormone Receptor Defect Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Activating Thyroid-Stimulating Hormone Receptor Defect in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

perimembraneous ventricular septal defect Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the perimembraneous ventricular septal defect phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

ventricular septal defect Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the ventricular septal defect phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

double outlet right ventricle with atrioventricular septal defect Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the double outlet right ventricle with atrioventricular septal defect phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

atrial septal defect Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the atrial septal defect phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

atrioventricular septal defect Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the atrioventricular septal defect phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

ostium secundum atrial septal defect Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the ostium secundum atrial septal defect phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

complete atrioventricular septal defect Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the complete atrioventricular septal defect phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

muscular ventricular septal defect Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the muscular ventricular septal defect phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

ostium primum atrial septal defect Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the ostium primum atrial septal defect phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

inlet ventricular septal defect Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the inlet ventricular septal defect phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

aorticopulmonary septal defect Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the aorticopulmonary septal defect phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

iodide oxidation defect Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the iodide oxidation defect phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

partial atrioventricular septal defect Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the partial atrioventricular septal defect phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

double outlet right ventricle, ventricular defect committed to aorta Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the double outlet right ventricle, ventricular defect committed to aorta phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

double outlet right ventricle, noncommitted ventricular septal defect Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the double outlet right ventricle, noncommitted ventricular septal defect phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

subarterial ventricular septal defect Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the subarterial ventricular septal defect phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

repair of mitotic kinetochore microtubule attachment defect Gene Set

From GO Biological Process Annotations 2025

genes participating in the repair of mitotic kinetochore microtubule attachment defect biological process from the curated GO Biological Process Annotations 2025 dataset.

Atrial heart septal defect Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores 2025

genes involed in the disease Atrial heart septal defect from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.

Heart septal defect Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores 2025

genes involed in the disease Heart septal defect from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.

Neural tube defect Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores 2025

genes involed in the disease Neural tube defect from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.

Congenital bile acid synthesis defect Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores 2025

genes involed in the disease Congenital bile acid synthesis defect from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.

Congenital bile acid synthesis defect 2 Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores 2025

genes involed in the disease Congenital bile acid synthesis defect 2 from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.

X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores 2025

genes involed in the disease X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.

Neural tube defect Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Neural tube defect in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Heart septal defect Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Heart septal defect in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Ventricular septal defect Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Ventricular septal defect in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Atrial heart septal defect Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Atrial heart septal defect in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Atrioventricular septal defect Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Atrioventricular septal defect in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Congenital bile acid synthesis defect Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Congenital bile acid synthesis defect in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Congenital bile acid synthesis defect 5 Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Congenital bile acid synthesis defect 5 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Atrial heart septal defect 2 Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Atrial heart septal defect 2 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Atrial heart septal defect 1 Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Atrial heart septal defect 1 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Atrial heart septal defect 9 Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Atrial heart septal defect 9 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Atrial heart septal defect 4 Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Atrial heart septal defect 4 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Glycosylphosphatidylinositol biosynthesis defect 16 Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Glycosylphosphatidylinositol biosynthesis defect 16 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Atrial heart septal defect 3 Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Atrial heart septal defect 3 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Atrial heart septal defect 6 Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Atrial heart septal defect 6 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Atrial heart septal defect 5 Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Atrial heart septal defect 5 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Thrombophilia due to thrombin defect Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Thrombophilia due to thrombin defect in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Qualitative platelet defect Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Qualitative platelet defect in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Congenital bile acid synthesis defect 2 Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Congenital bile acid synthesis defect 2 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Congenital bile acid synthesis defect 3 Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Congenital bile acid synthesis defect 3 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Joubert syndrome with orofaciodigital defect Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Joubert syndrome with orofaciodigital defect in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

X-linked thrombophilia due to factor IX defect Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease X-linked thrombophilia due to factor IX defect in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Atrial heart septal defect 8 Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Atrial heart septal defect 8 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Developmental cardiac valvular defect Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Developmental cardiac valvular defect in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Congenital bile acid synthesis defect 1 Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Congenital bile acid synthesis defect 1 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

hypotrichosis-lymphedema-telangiectasia-renal defect syndrome Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease hypotrichosis-lymphedema-telangiectasia-renal defect syndrome in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Thrombophilia due to thrombomodulin defect Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Thrombophilia due to thrombomodulin defect in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Nerve fibre bundle defect Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Nerve fibre bundle defect in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Combined oxidative phosphorylation defect Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Combined oxidative phosphorylation defect phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Thyroglobulin synthesis defect Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Thyroglobulin synthesis defect phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Iodotyrosine deiodination defect Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Iodotyrosine deiodination defect phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Congenital defect of folate absorption Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Congenital defect of folate absorption phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Neutral 1 amino acid transport defect Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Neutral 1 amino acid transport defect phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Congenital bile acid synthesis defect Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Congenital bile acid synthesis defect phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Atrioventricular septal defect Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Atrioventricular septal defect phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Thrombophilia due to thrombin defect Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Thrombophilia due to thrombin defect phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Iris transillumination defect Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Iris transillumination defect phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Hepatoencephalopathy due to combined oxidative phosphorylation defect Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Hepatoencephalopathy due to combined oxidative phosphorylation defect phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Atrial septal defect Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Atrial septal defect phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Fatal mitochondrial disease due to combined oxidative phosphorylation defect Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Fatal mitochondrial disease due to combined oxidative phosphorylation defect phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Renal carnitine transport defect Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Renal carnitine transport defect phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Ventricular septal defect Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Ventricular septal defect phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Glucose-6-phosphate transport defect Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Glucose-6-phosphate transport defect phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Phosphate transport defect Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Phosphate transport defect phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Peroxisome biogenesis disorder due to PEX1 defect Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Peroxisome biogenesis disorder due to PEX1 defect phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Laron- somatotropin defect Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Laron- somatotropin defect phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Color vision defect Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Color vision defect phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Protan defect Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Protan defect phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Iodotyrosyl coupling defect Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Iodotyrosyl coupling defect phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

MPV17-related mitochondrial DNA maintenance defect Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the MPV17-related mitochondrial DNA maintenance defect phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Neural tube defect Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Neural tube defect phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Gastrointestinal defect and immunodeficiency syndrome Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Gastrointestinal defect and immunodeficiency syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Familial atrioventricular septal defect Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Familial atrioventricular septal defect phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Single Ventricle Defect Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Single Ventricle Defect phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Heart defect - tongue hamartoma - polysyndactyly syndrome Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Heart defect - tongue hamartoma - polysyndactyly syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Metabolic myopathy due to lactate transporter defect Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Metabolic myopathy due to lactate transporter defect phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Methylmalonic acidemia due to transcobalamin receptor defect Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Methylmalonic acidemia due to transcobalamin receptor defect phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Sacral defect Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Sacral defect phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Bile acid conjugation defect Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Bile acid conjugation defect phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Ulnar/fibula ray defect-brachydactyly syndrome Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Ulnar/fibula ray defect-brachydactyly syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Immunodeficiency due to defect in CD3-gamma Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Immunodeficiency due to defect in CD3-gamma phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Thyroid Hormonogenesis Defect Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Thyroid Hormonogenesis Defect phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Oocyte maturation defect Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Oocyte maturation defect phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Glycosylphosphatidylinositol biosynthesis defect Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Glycosylphosphatidylinositol biosynthesis defect phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Inherited oocyte maturation defect Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Inherited oocyte maturation defect phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Atrioventricular septal defect and common atrioventricular junction Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Atrioventricular septal defect and common atrioventricular junction phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Progressive retinal dystrophy due to retinol transport defect Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Progressive retinal dystrophy due to retinol transport defect phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Cardiac valvular defect Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Cardiac valvular defect phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Juvenile arthritis due to defect in LA Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Juvenile arthritis due to defect in LA phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Female infertility due to zona pellucida defect Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Female infertility due to zona pellucida defect phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.