Name

AFA Gene

ankyloblepharon filiforme adnatum

LATD Gene

Laterality defects, autosomal dominant

CHDT3 Gene

Congenital heart defects, multiple types, 3

ODPF Gene

Osseous dysplasia, digital, with facial pigmentary defects and multiple frenula

atrial septal defects; congenital heart defects; heart defects, congenital; heart septal defects, atrial; heart septal defects, ventricular; ventricular septal defects Gene Set

From GAD Gene-Disease Associations

genes associated with the disease atrial septal defects; congenital heart defects; heart defects, congenital; heart septal defects, atrial; heart septal defects, ventricular; ventricular septal defects in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

atrial septal defects; cardiomyopathy, dilated; congenital heart defects; dcm - dilated cardiomyopathy; heart defects, congenital; heart septal defects, atrial Gene Set

From GAD Gene-Disease Associations

genes associated with the disease atrial septal defects; cardiomyopathy, dilated; congenital heart defects; dcm - dilated cardiomyopathy; heart defects, congenital; heart septal defects, atrial in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

heart defects, congenital; heart septal defects, atrial; heart septal defects, ventricular Gene Set

From GAD Gene-Disease Associations

genes associated with the disease heart defects, congenital; heart septal defects, atrial; heart septal defects, ventricular in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

congenital heart defects; down syndrome; heart defects, congenital; heart septal defects Gene Set

From GAD Gene-Disease Associations

genes associated with the disease congenital heart defects; down syndrome; heart defects, congenital; heart septal defects in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

congenital heart defects; heart defects, congenital; heart septal defects; tetralogy of fallot Gene Set

From GAD Gene-Disease Associations

genes associated with the disease congenital heart defects; heart defects, congenital; heart septal defects; tetralogy of fallot in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

congenital heart defects; heart defects, congenital; syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease congenital heart defects; heart defects, congenital; syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

congenital heart defects; folic acid deficiency; heart defects, congenital Gene Set

From GAD Gene-Disease Associations

genes associated with the disease congenital heart defects; folic acid deficiency; heart defects, congenital in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

apoplexy; atrial septal defects; brain ischemia; diabetes mellitus; heart septal defects, atrial; hypertension; intracranial thrombosis; ischemic attack, transient; stroke; transient ischemic attack Gene Set

From GAD Gene-Disease Associations

genes associated with the disease apoplexy; atrial septal defects; brain ischemia; diabetes mellitus; heart septal defects, atrial; hypertension; intracranial thrombosis; ischemic attack, transient; stroke; transient ischemic attack in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

congenital heart defects; heart defects, congenital; obesity Gene Set

From GAD Gene-Disease Associations

genes associated with the disease congenital heart defects; heart defects, congenital; obesity in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

atrial septal defects; death, sudden; heart septal defects, atrial; isolated noncompaction of the ventricular myocardium; syncope Gene Set

From GAD Gene-Disease Associations

genes associated with the disease atrial septal defects; death, sudden; heart septal defects, atrial; isolated noncompaction of the ventricular myocardium; syncope in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

heart septal defects, ventricular; ventricular septal defects Gene Set

From GAD Gene-Disease Associations

genes associated with the disease heart septal defects, ventricular; ventricular septal defects in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

congenital heart defects; coronary disease; coronary heart disease; heart defects, congenital Gene Set

From GAD Gene-Disease Associations

genes associated with the disease congenital heart defects; coronary disease; coronary heart disease; heart defects, congenital in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

heart defects, congenital; heart septal defects, ventricular; tetralogy of fallot Gene Set

From GAD Gene-Disease Associations

genes associated with the disease heart defects, congenital; heart septal defects, ventricular; tetralogy of fallot in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

congenital heart defects; heart defects, congenital Gene Set

From GAD Gene-Disease Associations

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

heart defects, congenital; heart septal defects, ventricular Gene Set

From GAD Gene-Disease Associations

genes associated with the disease heart defects, congenital; heart septal defects, ventricular in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

congenital heart defects; heart defects, congenital; ventricular outflow obstruction Gene Set

From GAD Gene-Disease Associations

genes associated with the disease congenital heart defects; heart defects, congenital; ventricular outflow obstruction in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

apoplexy; atrial septal defects; heart septal defects, atrial; stroke; thromboembolism Gene Set

From GAD Gene-Disease Associations

genes associated with the disease apoplexy; atrial septal defects; heart septal defects, atrial; stroke; thromboembolism in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

congenital heart defects; heart defects, congenital; nervous system diseases Gene Set

From GAD Gene-Disease Associations

genes associated with the disease congenital heart defects; heart defects, congenital; nervous system diseases in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

atrial septal defects; heart septal defects, atrial; tetralogy of fallot Gene Set

From GAD Gene-Disease Associations

genes associated with the disease atrial septal defects; heart septal defects, atrial; tetralogy of fallot in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

apoplexy; atrial septal defects; embolism, paradoxical; heart septal defects, atrial; migraine with aura; stroke; thrombophilia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease apoplexy; atrial septal defects; embolism, paradoxical; heart septal defects, atrial; migraine with aura; stroke; thrombophilia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

body weight; congenital heart defects; growth disorders; heart defects, congenital Gene Set

From GAD Gene-Disease Associations

genes associated with the disease body weight; congenital heart defects; growth disorders; heart defects, congenital in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

congenital heart defects; digeorge syndrome; heart defects, congenital; pharyngeal pouch; syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease congenital heart defects; digeorge syndrome; heart defects, congenital; pharyngeal pouch; syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

abnormalities, multiple; coloboma; congenital heart defects; disease models, animal; facial paralysis; heart defects, congenital; syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease abnormalities, multiple; coloboma; congenital heart defects; disease models, animal; facial paralysis; heart defects, congenital; syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

aortic coarctation; aortic valve stenosis; congenital heart defects; discrete subaortic stenosis; heart defects, congenital; hypoplastic left heart syndrome; pulmonary valve stenosis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease aortic coarctation; aortic valve stenosis; congenital heart defects; discrete subaortic stenosis; heart defects, congenital; hypoplastic left heart syndrome; pulmonary valve stenosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

ankyloblepharon Gene Set

From GeneRIF Biological Term Annotations

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

ankyloblepharon Gene Set

From HPO Gene-Disease Associations

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

Ankyloblepharon Gene Set

From DisGeNET Gene-Disease Associations

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

Congenital Ankyloblepharon Gene Set

From DisGeNET Gene-Disease Associations

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

Curly Hair-Ankyloblepharon-Nail Dysplasia Syndrome Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Curly Hair-Ankyloblepharon-Nail Dysplasia Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Ankyloblepharon Filiforme Adnatum Gene Set

From DisGeNET Gene-Disease Associations

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

lower (caudal) rhombic lip Gene Set

From Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles

genes with high or low expression in lower (caudal) rhombic lip relative to other tissues from the Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles dataset.

external granular (germinal) layer of upper rhombic lip Gene Set

From Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles

genes with high or low expression in external granular (germinal) layer of upper rhombic lip relative to other tissues from the Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles dataset.

external granular (germinal) layer of lower rhombic lip Gene Set

From Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles

genes with high or low expression in external granular (germinal) layer of lower rhombic lip relative to other tissues from the Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles dataset.

upper (rostral) rhombic lip Gene Set

From Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles

genes with high or low expression in upper (rostral) rhombic lip relative to other tissues from the Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles dataset.

lip disease Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

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

lip cancer Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

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

lower lip cancer Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

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

carcinoma, squamous cell; cheilitis; lip neoplasms Gene Set

From GAD Gene-Disease Associations

genes associated with the disease carcinoma, squamous cell; cheilitis; lip neoplasms in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

carcinoma, basal cell; carcinoma, squamous cell; head and neck neoplasms; lip neoplasms; skin neoplasms Gene Set

From GAD Gene-Disease Associations

genes associated with the disease carcinoma, basal cell; carcinoma, squamous cell; head and neck neoplasms; lip neoplasms; skin neoplasms in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

lip Gene Set

From GeneRIF Biological Term Annotations

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

abnormality of upper lip Gene Set

From HPO Gene-Disease Associations

genes associated with the abnormality of upper lip phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

paramedian lip pit Gene Set

From HPO Gene-Disease Associations

genes associated with the paramedian lip pit phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

u-shaped upper lip vermilion Gene Set

From HPO Gene-Disease Associations

genes associated with the u-shaped upper lip vermilion phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

tented upper lip vermilion Gene Set

From HPO Gene-Disease Associations

genes associated with the tented upper lip vermilion phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

abnormality of the lip Gene Set

From HPO Gene-Disease Associations

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

everted upper lip vermilion Gene Set

From HPO Gene-Disease Associations

genes associated with the everted upper lip vermilion phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

lip hyperpigmentation Gene Set

From HPO Gene-Disease Associations

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

abnormality of lower lip Gene Set

From HPO Gene-Disease Associations

genes associated with the abnormality of lower lip phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

commissural lip pit Gene Set

From HPO Gene-Disease Associations

genes associated with the commissural lip pit phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

short upper lip Gene Set

From HPO Gene-Disease Associations

genes associated with the short upper lip phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

curved linear dimple below the lower lip Gene Set

From HPO Gene-Disease Associations

genes associated with the curved linear dimple below the lower lip phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

long upper lip Gene Set

From HPO Gene-Disease Associations

genes associated with the long upper lip phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

thick upper lip vermilion Gene Set

From HPO Gene-Disease Associations

genes associated with the thick upper lip vermilion phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

lip telangiectasia Gene Set

From HPO Gene-Disease Associations

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

abnormality of upper lip vermillion Gene Set

From HPO Gene-Disease Associations

genes associated with the abnormality of upper lip vermillion phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

thin upper lip vermilion Gene Set

From HPO Gene-Disease Associations

genes associated with the thin upper lip vermilion phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

lip pit Gene Set

From HPO Gene-Disease Associations

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

lower lip pit Gene Set

From HPO Gene-Disease Associations

genes associated with the lower lip pit phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

everted lower lip vermilion Gene Set

From HPO Gene-Disease Associations

genes associated with the everted lower lip vermilion phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

thick lower lip vermilion Gene Set

From HPO Gene-Disease Associations

genes associated with the thick lower lip vermilion phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

thin lip Gene Set

From MPO Gene-Phenotype Associations

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

abnormal rhombic lip morphology Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the abnormal rhombic lip morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

abnormal lip shape Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the abnormal lip shape phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

abnormal lower lip morphology Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the abnormal lower lip morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

abnormal upper lip morphology Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the abnormal upper lip morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

everted lip Gene Set

From MPO Gene-Phenotype Associations

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

abnormal lip morphology Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the abnormal lip morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

lip Gene Set

From TISSUES Curated Tissue Protein Expression Evidence Scores

proteins highly expressed in the tissue lip from the TISSUES Curated Tissue Protein Expression Evidence Scores dataset.

lip Gene Set

From TISSUES Text-mining Tissue Protein Expression Evidence Scores

proteins co-occuring with the tissue lip in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores dataset.

lip epithelium Gene Set

From TISSUES Text-mining Tissue Protein Expression Evidence Scores

proteins co-occuring with the tissue lip epithelium in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores dataset.

dorsal lip Gene Set

From TISSUES Text-mining Tissue Protein Expression Evidence Scores

proteins co-occuring with the tissue dorsal lip in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores dataset.

Lip And Oral Cavity Carcinoma Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Lip And Oral Cavity Carcinoma in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Squamous Cell Carcinoma Of Lip Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Squamous Cell Carcinoma Of Lip in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Cancer Of Lip Gene Set

From DisGeNET Gene-Disease Associations

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

Lip Carcinoma Gene Set

From DisGeNET Gene-Disease Associations

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

Lip And Oral Cavity Squamous Cell Carcinoma Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Lip And Oral Cavity Squamous Cell Carcinoma in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Congenital Lip Pits Gene Set

From DisGeNET Gene-Disease Associations

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

Lip Pit Gene Set

From DisGeNET Gene-Disease Associations

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

Abnormality Of Upper Lip Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Abnormality Of Upper Lip in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Abnormality Of Lower Lip Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Abnormality Of Lower Lip in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Abnormality Of Upper Lip Vermillion Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Abnormality Of Upper Lip Vermillion in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Lip Hyperpigmentation Gene Set

From DisGeNET Gene-Disease Associations

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

Thick Lower Lip Vermilion Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Thick Lower Lip Vermilion in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Eversion Of Lower Lip Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Eversion Of Lower Lip in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Thick Upper Lip Vermilion Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Thick Upper Lip Vermilion in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Lip Swelling Gene Set

From DisGeNET Gene-Phenotype Associations

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

Thin Upper Lip Vermilion Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Thin Upper Lip Vermilion in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Tented Upper Lip Vermilion Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Tented Upper Lip Vermilion in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Lip Telangiectasia Gene Set

From DisGeNET Gene-Phenotype Associations

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

Short Upper Lip Gene Set

From DisGeNET Gene-Phenotype Associations

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

Everted Upper Lip Vermilion Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Everted Upper Lip Vermilion in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Long Upper Lip Gene Set

From DisGeNET Gene-Phenotype Associations

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

U-Shaped Upper Lip Vermilion Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype U-Shaped Upper Lip Vermilion in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Lip Discoloration Gene Set

From DisGeNET Gene-Phenotype Associations

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

Curved Linear Dimple Below The Lower Lip Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Curved Linear Dimple Below The Lower Lip in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Lower Lip Pit Gene Set

From DisGeNET Gene-Phenotype Associations

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

Thin Lower Lip Vermilion Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Thin Lower Lip Vermilion in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Commissural Lip Pit Gene Set

From DisGeNET Gene-Phenotype Associations

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

Upper Lip Pit Gene Set

From DisGeNET Gene-Phenotype Associations

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

abnormal lower lip morphology Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the abnormal lower lip morphology phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

abnormal upper lip morphology Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the abnormal upper lip morphology phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

thin lip Gene Set

From MGI Mouse Phenotype Associations 2023

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

thin upper lip Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the thin upper lip phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

abnormal lip morphology Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the abnormal lip morphology phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

abnormal rhombic lip morphology Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the abnormal rhombic lip morphology phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

thick upper lip Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the thick upper lip phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

abnormal lip morphology Gene Set

From IMPC Knockout Mouse Phenotypes

gene knockouts causing the abnormal lip morphology phenotype in mic from the IMPC Knockout Mouse Phenotypes dataset.

Rhombic lip cell_Cerebellum_Mouse Gene Set

From CellMarker Gene-Cell Type Associations

genes associated with the Rhombic lip cell_Cerebellum_Mouse cell type from the CellMarker Gene-Cell Type Associations dataset.

Lip disease Gene Set

From DISEASES Experimental Gene-Disease Association Evidence Scores 2025

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

Lip disease Gene Set

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

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

Lip cancer Gene Set

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

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

Lower lip cancer Gene Set

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

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

Upper lip cancer Gene Set

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

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

Lip Gene Set

From TISSUES Curated Tissue Protein Expression Evidence Scores 2025

proteins highly expressed in the tissue Lip from the TISSUES Curated Tissue Protein Expression Evidence Scores 2025 dataset.

Dorsal lip Gene Set

From TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025

proteins co-occuring with the tissue Dorsal lip in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 dataset.

Lip Gene Set

From TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025

proteins co-occuring with the tissue Lip in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 dataset.

Lip epithelium Gene Set

From TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025

proteins co-occuring with the tissue Lip epithelium in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 dataset.

Plant lip Gene Set

From TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025

proteins co-occuring with the tissue Plant lip in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 dataset.

Lip and oral cavity carcinoma Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Lip and oral cavity carcinoma phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Lip telangiectasia Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Lip telangiectasia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Facial morphology (factor 17, height of vermillion upper lip) Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Facial morphology (factor 17, height of vermillion upper lip) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Lip morphology Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Lip morphology phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

hard palate cancer Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

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

soft palate cancer Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

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

palate Gene Set

From GeneRIF Biological Term Annotations

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

PAX3_Knock-in_GDS3331_598_mouse_Palatal shelves (E14.5 embryos - palate) Gene Set

From GEO Signatures of Differentially Expressed Genes for Gene Perturbations

genes differentially expressed following the PAX3_Knock-in_GDS3331_598_mouse_Palatal shelves (E14.5 embryos - palate) gene perturbation from the GEO Signatures of Differentially Expressed Genes for Gene Perturbations dataset.

soft palate development Gene Set

From GO Biological Process Annotations 2015

genes participating in the soft palate development biological process from the curated GO Biological Process Annotations 2015 dataset.

hard palate development Gene Set

From GO Biological Process Annotations 2015

genes participating in the hard palate development biological process from the curated GO Biological Process Annotations 2015 dataset.

palate development Gene Set

From GO Biological Process Annotations 2015

genes participating in the palate development biological process from the curated GO Biological Process Annotations 2015 dataset.

abnormality of the soft palate Gene Set

From HPO Gene-Disease Associations

genes associated with the abnormality of the soft palate phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

abnormality of the palate Gene Set

From HPO Gene-Disease Associations

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

high palate Gene Set

From HPO Gene-Disease Associations

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

high, narrow palate Gene Set

From HPO Gene-Disease Associations

genes associated with the high, narrow palate phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

palate telangiectasia Gene Set

From HPO Gene-Disease Associations

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

short hard palate Gene Set

From HPO Gene-Disease Associations

genes associated with the short hard palate phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

narrow palate Gene Set

From HPO Gene-Disease Associations

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

abnormality of the hard palate Gene Set

From HPO Gene-Disease Associations

genes associated with the abnormality of the hard palate phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

absent hard palate Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the absent hard palate phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

abnormal secondary palate development Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the abnormal secondary palate development phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

short palate Gene Set

From MPO Gene-Phenotype Associations

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

high palate Gene Set

From MPO Gene-Phenotype Associations

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

abnormal primary palate development Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the abnormal primary palate development phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

abnormal soft palate morphology Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the abnormal soft palate morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

abnormal palate bone morphology Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the abnormal palate bone morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

abnormal hard palate morphology Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the abnormal hard palate morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

palate bone hypoplasia Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the palate bone hypoplasia phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

abnormal palate development Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the abnormal palate development phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

abnormal palate morphology Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the abnormal palate morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

arched palate Gene Set

From MPO Gene-Phenotype Associations

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

palate Gene Set

From TISSUES Text-mining Tissue Protein Expression Evidence Scores

proteins co-occuring with the tissue palate in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores dataset.

Byzanthine Arch Palate Gene Set

From DisGeNET Gene-Disease Associations

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

Abnormal Palate Morphology Gene Set

From DisGeNET Gene-Disease Associations

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

Short Palate Gene Set

From DisGeNET Gene-Disease Associations

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

Abnormal Soft Palate Morphology Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Abnormal Soft Palate Morphology in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Congenital Malformations Of Palate, Not Elsewhere Classified In Icd10Cm Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Congenital Malformations Of Palate, Not Elsewhere Classified In Icd10Cm in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Short Hard Palate Gene Set

From DisGeNET Gene-Disease Associations

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

Hard Palate Squamous Cell Carcinoma Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Hard Palate Squamous Cell Carcinoma in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

High, Narrow Palate Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype High, Narrow Palate in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Palate Telangiectasia Gene Set

From DisGeNET Gene-Phenotype Associations

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

Narrow Palate Gene Set

From DisGeNET Gene-Phenotype Associations

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

Palate Fistula Gene Set

From DisGeNET Gene-Phenotype Associations

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

Residue On Palate Gene Set

From DisGeNET Gene-Phenotype Associations

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

secondary palate development Gene Set

From GO Biological Process Annotations 2023

genes participating in the secondary palate development biological process from the curated GO Biological Process Annotations 2023 dataset.

PRDM16-22522345-PALATE-MESENCHYMAL-MOUSE Gene Set

From ChEA Transcription Factor Targets 2022

target genes of the PRDM16-22522345-PALATE-MESENCHYMAL-MOUSE transcription factor in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets 2022 dataset.

abnormal palate morphology Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the abnormal palate morphology phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

absent soft palate Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the absent soft palate phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

abnormal secondary palate development Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the abnormal secondary palate development phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

abnormal soft palate morphology Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the abnormal soft palate morphology phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

abnormal hard palate morphology Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the abnormal hard palate morphology phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

absent hard palate Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the absent hard palate phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

absent primary palate Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the absent primary palate phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

abnormal palate development Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the abnormal palate development phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

short soft palate Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the short soft palate phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

abnormal palate bone morphology Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the abnormal palate bone morphology phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

palate bone hypoplasia Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the palate bone hypoplasia phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

arched palate Gene Set

From MGI Mouse Phenotype Associations 2023

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

absent palate bones Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the absent palate bones phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

high palate Gene Set

From MGI Mouse Phenotype Associations 2023

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

abnormal secondary palate morphology Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the abnormal secondary palate morphology phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

narrow palate Gene Set

From MGI Mouse Phenotype Associations 2023

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

secondary palate development Gene Set

From GO Biological Process Annotations 2025

genes participating in the secondary palate development biological process from the curated GO Biological Process Annotations 2025 dataset.

Hard palate cancer Gene Set

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

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

Soft palate cancer Gene Set

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

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

Palate Gene Set

From TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025

proteins co-occuring with the tissue Palate in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 dataset.

High palate Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the High palate phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Combined cellular and humoral immune defects with granulomas Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Combined cellular and humoral immune defects with granulomas phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects 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.

Myasthenic syndrome, congenital, with pre- and postsynaptic defects Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Myasthenic syndrome, congenital, with pre- and postsynaptic defects phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Forebrain defects Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Forebrain defects phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deafness, congenital heart defects, and posterior embryotoxon Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deafness, congenital heart defects, and posterior embryotoxon phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Alopecia, neurologic defects, and endocrinopathy syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Alopecia, neurologic defects, and endocrinopathy syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hirschsprung disease, cardiac defects, and autonomic dysfunction Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hirschsprung disease, cardiac defects, and autonomic dysfunction phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 1, X-LINKED Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 1, X-LINKED phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital heart defects, multiple types, 4 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital heart defects, multiple types, 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Skeletal defects, genital hypoplasia, and mental retardation Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Skeletal defects, genital hypoplasia, and mental retardation phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Heart Septal Defects, Ventricular Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Heart Septal Defects, Ventricular from the curated CTD Gene-Disease Associations dataset.

Combined Cellular And Humoral Immune Defects With Granulomas Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Combined Cellular And Humoral Immune Defects With Granulomas from the curated CTD Gene-Disease Associations dataset.

Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects from the curated CTD Gene-Disease Associations dataset.

Heart Septal Defects Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Heart Septal Defects from the curated CTD Gene-Disease Associations dataset.

Neural Tube Defects Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Neural Tube Defects from the curated CTD Gene-Disease Associations dataset.

Skeletal Defects, Genital Hypoplasia, And Mental Retardation Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Skeletal Defects, Genital Hypoplasia, And Mental Retardation from the curated CTD Gene-Disease Associations dataset.

Laterality Defects, Autosomal Dominant Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Laterality Defects, Autosomal Dominant from the curated CTD Gene-Disease Associations dataset.

Heart Septal Defects, Atrial Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Heart Septal Defects, Atrial from the curated CTD Gene-Disease Associations dataset.

Alopecia, Neurologic Defects, and Endocrinopathy Syndrome Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Alopecia, Neurologic Defects, and Endocrinopathy Syndrome from the curated CTD Gene-Disease Associations dataset.

Heart Defects, Congenital Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Heart Defects, Congenital from the curated CTD Gene-Disease Associations dataset.

Color Vision Defects Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Color Vision Defects 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.

congenital heart defects Gene Set

From GAD Gene-Disease Associations

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

heart defects, congenital; hyperhomocysteinemia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease heart defects, congenital; hyperhomocysteinemia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

neural tube defects; dihydropyrimidine dehydrogenase Gene Set

From GAD Gene-Disease Associations

genes associated with the disease neural tube defects; dihydropyrimidine dehydrogenase in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

antiphospholipid syndrome; arterial occlusive diseases; blood coagulation disorders, inherited; cardiomyopathy, dilated; heart defects, congenital; heart diseases; thrombophilia; thrombosis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease antiphospholipid syndrome; arterial occlusive diseases; blood coagulation disorders, inherited; cardiomyopathy, dilated; heart defects, congenital; heart diseases; thrombophilia; thrombosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

cardiac defects Gene Set

From GAD Gene-Disease Associations

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

birth defects Gene Set

From GAD Gene-Disease Associations

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

dilatation, pathologic; heart defects, congenital Gene Set

From GAD Gene-Disease Associations

genes associated with the disease dilatation, pathologic; heart defects, congenital in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

anoxia; blood coagulation disorders, inherited; heart defects, congenital; infection; polycythemia; postoperative complications; thrombosis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease anoxia; blood coagulation disorders, inherited; heart defects, congenital; infection; polycythemia; postoperative complications; thrombosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

birth weight; congenital abnormalities; heart defects, congenital; postoperative complications; syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease birth weight; congenital abnormalities; heart defects, congenital; postoperative complications; syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

cardiomyopathies; heart defects, congenital Gene Set

From GAD Gene-Disease Associations

genes associated with the disease cardiomyopathies; heart defects, congenital in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

anencephaly; folic acid deficiency; neural tube defects; pregnancy complications; spinal dysraphism Gene Set

From GAD Gene-Disease Associations

genes associated with the disease anencephaly; folic acid deficiency; neural tube defects; pregnancy complications; spinal dysraphism in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

atrial fibrillation; heart septal defects Gene Set

From GAD Gene-Disease Associations

genes associated with the disease atrial fibrillation; heart septal defects in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

axial skeletal defects Gene Set

From GAD Gene-Disease Associations

genes associated with the disease axial skeletal defects in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

left-right laterality defects Gene Set

From GAD Gene-Disease Associations

genes associated with the disease left-right laterality defects in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

heart septal defects, ventricular Gene Set

From GAD Gene-Disease Associations

genes associated with the disease heart septal defects, ventricular in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

abnormalities, multiple; heart defects, congenital; leopard syndrome; noonan syndrome; skin abnormalities Gene Set

From GAD Gene-Disease Associations

genes associated with the disease abnormalities, multiple; heart defects, congenital; leopard syndrome; noonan syndrome; skin abnormalities in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

down syndrome; heart defects, congenital Gene Set

From GAD Gene-Disease Associations

genes associated with the disease down syndrome; heart defects, congenital in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

neural tube defects and preeclampsia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease neural tube defects and preeclampsia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

neural tube defects Gene Set

From GAD Gene-Disease Associations

genes associated with the disease neural tube defects in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

color vision defects; retinal degeneration Gene Set

From GAD Gene-Disease Associations

genes associated with the disease color vision defects; retinal degeneration in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

heart septal defects, atrial; tetralogy of fallot Gene Set

From GAD Gene-Disease Associations

genes associated with the disease heart septal defects, atrial; tetralogy of fallot in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

heart defects, congenital Gene Set

From GAD Gene-Disease Associations

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

down syndrome; heart defects, congenital; hypertension, pulmonary Gene Set

From GAD Gene-Disease Associations

genes associated with the disease down syndrome; heart defects, congenital; hypertension, pulmonary in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

ductus arteriosus, patent; heart septal defects, atrial Gene Set

From GAD Gene-Disease Associations

genes associated with the disease ductus arteriosus, patent; heart septal defects, atrial in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

visual field defects Gene Set

From GAD Gene-Disease Associations

genes associated with the disease visual field defects in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

heart defects, congenital; hyperhomocysteinemia; prenatal exposure delayed effects Gene Set

From GAD Gene-Disease Associations

genes associated with the disease heart defects, congenital; hyperhomocysteinemia; prenatal exposure delayed effects in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

neural tube defects; pregnancy complications Gene Set

From GAD Gene-Disease Associations

genes associated with the disease neural tube defects; pregnancy complications in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

heart defects, congenital; spinal dysraphism Gene Set

From GAD Gene-Disease Associations

genes associated with the disease heart defects, congenital; spinal dysraphism in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

double outlet right ventricle; heart defects, congenital; pulmonary atresia; tetralogy of fallot; transposition of great vessels; truncus arteriosus, persistent Gene Set

From GAD Gene-Disease Associations

genes associated with the disease double outlet right ventricle; heart defects, congenital; pulmonary atresia; tetralogy of fallot; transposition of great vessels; truncus arteriosus, persistent in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

coronary disease; coronary heart disease; neural tube defects Gene Set

From GAD Gene-Disease Associations

genes associated with the disease coronary disease; coronary heart disease; neural tube defects in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

heart defects, congenital; tetralogy of fallot Gene Set

From GAD Gene-Disease Associations

genes associated with the disease heart defects, congenital; tetralogy of fallot in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

heart septal defects Gene Set

From GAD Gene-Disease Associations

genes associated with the disease heart septal defects in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

heart septal defects, ventricular; hypertension, pulmonary Gene Set

From GAD Gene-Disease Associations

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

neural tube defects; spinal dysraphism Gene Set

From GAD Gene-Disease Associations

genes associated with the disease neural tube defects; spinal dysraphism in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

defects Gene Set

From GeneRIF Biological Term Annotations

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

Conotruncal heart defects Gene Set

From GWAS Catalog SNP-Phenotype Associations

genes associated with the Conotruncal heart defects phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset.

progressive visual field defects Gene Set

From HPO Gene-Disease Associations

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

osteolytic defects of the distal phalanges of the hand Gene Set

From HPO Gene-Disease Associations

genes associated with the osteolytic defects of the distal phalanges of the hand phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

lung segmentation defects Gene Set

From HPO Gene-Disease Associations

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

pulmonary valve defects Gene Set

From HPO Gene-Disease Associations

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

mitochondrial respiratory chain defects Gene Set

From HPO Gene-Disease Associations

genes associated with the mitochondrial respiratory chain defects phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

symmetrical, oval parietal bone defects Gene Set

From HPO Gene-Disease Associations

genes associated with the symmetrical, oval parietal bone defects phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

osteolytic defects of the phalanges of the hand Gene Set

From HPO Gene-Disease Associations

genes associated with the osteolytic defects of the phalanges of the hand phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

osteolytic defects of the distal phalanges of the toes Gene Set

From HPO Gene-Disease Associations

genes associated with the osteolytic defects of the distal phalanges of the toes phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

osteolytic defects of the hand bones Gene Set

From HPO Gene-Disease Associations

genes associated with the osteolytic defects of the hand bones phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

forearm reduction defects Gene Set

From HPO Gene-Disease Associations

genes associated with the forearm reduction defects phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

osteolytic defects of the phalanges of the toes Gene Set

From HPO Gene-Disease Associations

genes associated with the osteolytic defects of the phalanges of the toes phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

asymmetric, linear skin defects Gene Set

From HPO Gene-Disease Associations

genes associated with the asymmetric, linear skin defects phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Heart Septal Defects, Ventricular Gene Set

From HuGE Navigator Gene-Phenotype Associations

genes associated with the Heart Septal Defects, Ventricular phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

Endocardial Cushion Defects Gene Set

From HuGE Navigator Gene-Phenotype Associations

genes associated with the Endocardial Cushion Defects phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

Heart Defects, Congenital Gene Set

From HuGE Navigator Gene-Phenotype Associations

genes associated with the Heart Defects, Congenital phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

Color Vision Defects Gene Set

From HuGE Navigator Gene-Phenotype Associations

genes associated with the Color Vision Defects phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

Heart Septal Defects Gene Set

From HuGE Navigator Gene-Phenotype Associations

genes associated with the Heart Septal Defects phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

Heart Septal Defects, Atrial Gene Set

From HuGE Navigator Gene-Phenotype Associations

genes associated with the Heart Septal Defects, Atrial phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

Neural Tube Defects Gene Set

From HuGE Navigator Gene-Phenotype Associations

genes associated with the Neural Tube Defects phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

skeletal defects, genital hypoplasia, and mental retardation Gene Set

From OMIM Gene-Disease Associations

genes associated with the skeletal defects, genital hypoplasia, and mental retardation phenotype from the curated OMIM Gene-Disease Associations dataset.

hirschsprung disease, cardiac defects, and autonomic dysfunction Gene Set

From OMIM Gene-Disease Associations

genes associated with the hirschsprung disease, cardiac defects, and autonomic dysfunction phenotype from the curated OMIM Gene-Disease Associations dataset.

{neural tube defects, susceptibility to} Gene Set

From OMIM Gene-Disease Associations

genes associated with the {neural tube defects, susceptibility to} phenotype from the curated OMIM Gene-Disease Associations dataset.

forebrain defects Gene Set

From OMIM Gene-Disease Associations

genes associated with the forebrain defects phenotype from the curated OMIM Gene-Disease Associations dataset.

congenital heart defects, nonsyndromic, 1, x-linked Gene Set

From OMIM Gene-Disease Associations

genes associated with the congenital heart defects, nonsyndromic, 1, x-linked phenotype from the curated OMIM Gene-Disease Associations dataset.

congenital heart defects, multiple types, 4 Gene Set

From OMIM Gene-Disease Associations

genes associated with the congenital heart defects, multiple types, 4 phenotype from the curated OMIM Gene-Disease Associations dataset.

congenital heart defects, multiple types, 3 Gene Set

From OMIM Gene-Disease Associations

genes associated with the congenital heart defects, multiple types, 3 phenotype from the curated OMIM Gene-Disease Associations dataset.

{neural tube defects, folate-sensitive, susceptibility to} Gene Set

From OMIM Gene-Disease Associations

genes associated with the {neural tube defects, folate-sensitive, susceptibility to} phenotype from the curated OMIM Gene-Disease Associations dataset.

left ventricular noncompaction 1, with or without congenital heart defects Gene Set

From OMIM Gene-Disease Associations

genes associated with the left ventricular noncompaction 1, with or without congenital heart defects phenotype from the curated OMIM Gene-Disease Associations dataset.

myasthenic syndrome, congenital, with pre- and postsynaptic defects Gene Set

From OMIM Gene-Disease Associations

genes associated with the myasthenic syndrome, congenital, with pre- and postsynaptic defects phenotype from the curated OMIM Gene-Disease Associations dataset.

combined cellular and humoral immune defects with granulomas Gene Set

From OMIM Gene-Disease Associations

genes associated with the combined cellular and humoral immune defects with granulomas phenotype from the curated OMIM Gene-Disease Associations dataset.

neural tube defects Gene Set

From OMIM Gene-Disease Associations

genes associated with the neural tube defects phenotype from the curated OMIM Gene-Disease Associations dataset.

alopecia, neurologic defects, and endocrinopathy syndrome Gene Set

From OMIM Gene-Disease Associations

genes associated with the alopecia, neurologic defects, and endocrinopathy syndrome phenotype from the curated OMIM Gene-Disease Associations dataset.

deafness, congenital heart defects, and posterior embryotoxon Gene Set

From OMIM Gene-Disease Associations

genes associated with the deafness, congenital heart defects, and posterior embryotoxon 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.

congenital heart defects, nonsyndromic, 2 Gene Set

From OMIM Gene-Disease Associations

genes associated with the congenital heart defects, nonsyndromic, 2 phenotype from the curated OMIM Gene-Disease Associations dataset.

pancreatic agenesis and congenital heart defects Gene Set

From OMIM Gene-Disease Associations

genes associated with the pancreatic agenesis and congenital heart defects phenotype from the curated OMIM Gene-Disease Associations dataset.

multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects Gene Set

From OMIM Gene-Disease Associations

genes associated with the multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects phenotype from the curated OMIM Gene-Disease Associations dataset.

Defects in cobalamin (B12) metabolism Gene Set

From Reactome Pathways 2014

proteins participating in the Defects in cobalamin (B12) metabolism pathway from the Reactome Pathways dataset.

Defects in vitamin and cofactor metabolism Gene Set

From Reactome Pathways 2014

proteins participating in the Defects in vitamin and cofactor metabolism pathway from the Reactome Pathways dataset.

Defects in biotin (Btn) metabolism Gene Set

From Reactome Pathways 2014

proteins participating in the Defects in biotin (Btn) metabolism pathway from the Reactome Pathways dataset.

Congenital Heart Defects Gene Set

From DisGeNET Gene-Disease Associations

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

Neural Tube Defects, Susceptibility To Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Neural Tube Defects, Susceptibility To in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Linear Skin Defects With Multiple Congenital Anomalies Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Linear Skin Defects With Multiple Congenital Anomalies in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Terminal Osseous Dysplasia And Pigmentary Defects Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Terminal Osseous Dysplasia And Pigmentary Defects in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Heart Defects, Congenital, And Other Congenital Anomalies Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Heart Defects, Congenital, And Other Congenital Anomalies in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Vertebral, Cardiac, Renal, And Limb Defects Syndrome Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Vertebral, Cardiac, Renal, And Limb Defects Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Neural Tube Defects X-Linked Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Neural Tube Defects X-Linked in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Forebrain Defects Gene Set

From DisGeNET Gene-Disease Associations

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

Brain Malformations With Or Without Urinary Tract Defects Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Brain Malformations With Or Without Urinary Tract Defects in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Structural Cardiac Defects Gene Set

From DisGeNET Gene-Disease Associations

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

Combined Cellular And Humoral Immune Defects With Granulomas Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Combined Cellular And Humoral Immune Defects With Granulomas in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Other Specified Coagulation Defects Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Other Specified Coagulation Defects in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Structural Heart Defects And Renal Anomalies Syndrome Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Structural Heart Defects And Renal Anomalies Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Arterial Occlusive Disease, Progressive, With Hypertension, Heart Defects, Bone Fragility, And Brachysyndactyly Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Arterial Occlusive Disease, Progressive, With Hypertension, Heart Defects, Bone Fragility, And Brachysyndactyly in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Skeletal Defects, Genital Hypoplasia, And Mental Retardation Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Skeletal Defects, Genital Hypoplasia, And Mental Retardation in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Multiple Ventricular Septal Defects Gene Set

From DisGeNET Gene-Disease Associations

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

Symmetrical, Oval Parietal Bone Defects Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Symmetrical, Oval Parietal Bone Defects in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Mitochondrial Respiratory Chain Defects Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Mitochondrial Respiratory Chain Defects in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Osteolytic Defects Of The Distal Phalanges Of The Hand Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Osteolytic Defects Of The Distal Phalanges Of The Hand in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Enamel Defects Gene Set

From DisGeNET Gene-Phenotype Associations

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

Osteochondral Defects Gene Set

From DisGeNET Gene-Phenotype Associations

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

Progressive Visual Field Defects Gene Set

From DisGeNET Gene-Phenotype Associations

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

Asymmetric, Linear Skin Defects Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Asymmetric, Linear Skin Defects in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Pulmonary Valve Defects Gene Set

From DisGeNET Gene-Phenotype Associations

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

Cardiac Conduction Defects Gene Set

From DisGeNET Gene-Phenotype Associations

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

Forearm Reduction Defects Gene Set

From DisGeNET Gene-Phenotype Associations

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

Glycosylation and related congenital defects Gene Set

From WikiPathways Pathways 2024

proteins participating in the Glycosylation and related congenital defects pathway from the WikiPathways Pathways 2024 dataset.

Amino acid transport defects IEMs Gene Set

From WikiPathways Pathways 2024

proteins participating in the Amino acid transport defects IEMs pathway from the WikiPathways Pathways 2024 dataset.

Hemesynthesis defects and porphyrias Gene Set

From WikiPathways Pathways 2024

proteins participating in the Hemesynthesis defects and porphyrias pathway from the WikiPathways Pathways 2024 dataset.

Aberrant regulation of mitotic G1/S transition in cancer due to RB1 defects Gene Set

From Reactome Pathways 2024

proteins participating in the Aberrant regulation of mitotic G1/S transition in cancer due to RB1 defects pathway from the Reactome Pathways 2024 dataset.

Aberrant regulation of mitotic cell cycle due to RB1 defects Gene Set

From Reactome Pathways 2024

proteins participating in the Aberrant regulation of mitotic cell cycle due to RB1 defects pathway from the Reactome Pathways 2024 dataset.

Aberrant regulation of mitotic exit in cancer due to RB1 defects Gene Set

From Reactome Pathways 2024

proteins participating in the Aberrant regulation of mitotic exit in cancer due to RB1 defects pathway from the Reactome Pathways 2024 dataset.

Defects in biotin (Btn) metabolism Gene Set

From Reactome Pathways 2024

proteins participating in the Defects in biotin (Btn) metabolism pathway from the Reactome Pathways 2024 dataset.

Defects in cobalamin (B12) metabolism Gene Set

From Reactome Pathways 2024

proteins participating in the Defects in cobalamin (B12) metabolism pathway from the Reactome Pathways 2024 dataset.

Defects in vitamin and cofactor metabolism Gene Set

From Reactome Pathways 2024

proteins participating in the Defects in vitamin and cofactor metabolism pathway from the Reactome Pathways 2024 dataset.

Defects of contact activation system (CAS) and kallikrein/kinin system (KKS) Gene Set

From Reactome Pathways 2024

proteins participating in the Defects of contact activation system (CAS) and kallikrein/kinin system (KKS) pathway from the Reactome Pathways 2024 dataset.

Defects of platelet adhesion to exposed collagen Gene Set

From Reactome Pathways 2024

proteins participating in the Defects of platelet adhesion to exposed collagen pathway from the Reactome Pathways 2024 dataset.

Evasion of Oncogene Induced Senescence Due to p14ARF Defects Gene Set

From Reactome Pathways 2024

proteins participating in the Evasion of Oncogene Induced Senescence Due to p14ARF Defects pathway from the Reactome Pathways 2024 dataset.

Evasion of Oncogene Induced Senescence Due to p16INK4A Defects Gene Set

From Reactome Pathways 2024

proteins participating in the Evasion of Oncogene Induced Senescence Due to p16INK4A Defects pathway from the Reactome Pathways 2024 dataset.

Evasion of Oxidative Stress Induced Senescence Due to p14ARF Defects Gene Set

From Reactome Pathways 2024

proteins participating in the Evasion of Oxidative Stress Induced Senescence Due to p14ARF Defects pathway from the Reactome Pathways 2024 dataset.

Evasion of Oxidative Stress Induced Senescence Due to p16INK4A Defects Gene Set

From Reactome Pathways 2024

proteins participating in the Evasion of Oxidative Stress Induced Senescence Due to p16INK4A Defects pathway from the Reactome Pathways 2024 dataset.

Nucleotide catabolism defects Gene Set

From Reactome Pathways 2024

proteins participating in the Nucleotide catabolism defects pathway from the Reactome Pathways 2024 dataset.

Nucleotide salvage defects Gene Set

From Reactome Pathways 2024

proteins participating in the Nucleotide salvage defects pathway from the Reactome Pathways 2024 dataset.

Linear skin defects with multiple congenital anomalies 1 Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores 2025

genes involed in the disease Linear skin defects with multiple congenital anomalies 1 from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.

alopecia, neurologic defects, and endocrinopathy syndrome Gene Set

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

genes co-occuring with the disease alopecia, neurologic defects, and endocrinopathy syndrome in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

alcohol-related birth defects Gene Set

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

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

Linear skin defects with multiple congenital anomalies 1 Gene Set

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

genes co-occuring with the disease Linear skin defects with multiple congenital anomalies 1 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Congenital heart defects, hamartomas of tongue, and polysyndactyly Gene Set

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

genes co-occuring with the disease Congenital heart defects, hamartomas of tongue, and polysyndactyly in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder Gene Set

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

genes co-occuring with the disease Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Combined cellular and humoral immune defects with granulomas Gene Set

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

genes co-occuring with the disease Combined cellular and humoral immune defects with granulomas in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Linear skin defects with multiple congenital anomalies 3 Gene Set

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

genes co-occuring with the disease Linear skin defects with multiple congenital anomalies 3 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Linear skin defects with multiple congenital anomalies 2 Gene Set

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

genes co-occuring with the disease Linear skin defects with multiple congenital anomalies 2 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Neural tube defects Gene Set

From ClinVar Gene-Phenotype Associations 2025

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

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Neuromuscular disease caused by qualitative or quantitative defects of dysferlin phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Congenital heart defects Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Congenital heart defects phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Neuromuscular disease caused by qualitative or quantitative defects of dystrophin Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Neuromuscular disease caused by qualitative or quantitative defects of dystrophin phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Terminal osseous dysplasia-pigmentary defects syndrome Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Terminal osseous dysplasia-pigmentary defects syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Qualitative or quantitative defects of merosin Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Qualitative or quantitative defects of merosin phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Mitochondrial respiratory chain defects Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Mitochondrial respiratory chain defects phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Qualitative or quantitative defects of delta-sarcoglycan Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Qualitative or quantitative defects of delta-sarcoglycan phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Qualitative or quantitative defects of beta-sarcoglycan Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Qualitative or quantitative defects of beta-sarcoglycan phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Gastrointestinal defects and immunodeficiency syndrome Gene Set

From ClinVar Gene-Phenotype Associations 2025

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

Neuromuscular disease caused by qualitative or quantitative defects of beta-myosin heavy chain Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Neuromuscular disease caused by qualitative or quantitative defects of beta-myosin heavy chain phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Linear skin defects Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Linear skin defects phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Short stature-pituitary and cerebellar defects-small sella turcica syndrome Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Short stature-pituitary and cerebellar defects-small sella turcica syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Qualitative or quantitative defects of collagen Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Qualitative or quantitative defects of collagen phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Neuromuscular disease caused by qualitative or quantitative defects of alpha-dystroglycan Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Neuromuscular disease caused by qualitative or quantitative defects of alpha-dystroglycan phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Congenital heart defects and skeletal malformations syndrome Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Congenital heart defects and skeletal malformations syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Structural heart defects and renal anomalies syndrome Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Structural heart defects and renal anomalies syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Qualitative or quantitative defects of myotubularin Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Qualitative or quantitative defects of myotubularin phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

MYH6-related cardiac defects Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the MYH6-related cardiac defects phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Paneth cell defects in Crohn's disease Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Paneth cell defects in Crohn's disease phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Conotruncal heart defects Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Conotruncal heart defects phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Conotruncal heart defects (maternal effects) Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Conotruncal heart defects (maternal effects) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Conotruncal heart defects (inherited effects) Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Conotruncal heart defects (inherited effects) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Congenital heart disease (septal defects) Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Congenital heart disease (septal defects) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.