Midline defect of the nose

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Results for "Midline defect of the nose": 451 gene sets

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midline defect of the nose Gene Set From HPO Gene-Disease Associations genes associated with the midline defect of the nose phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
Midline Defect Of The Nose Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Midline Defect Of The Nose in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
midline defect of mandible Gene Set From HPO Gene-Disease Associations genes associated with the midline defect of mandible phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
Midline group of the dorsal thalamus Gene Set From Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles genes with high or low expression in Midline group of the dorsal thalamus relative to other tissues from the Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles dataset.
midline nuclear complex Gene Set From Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles genes with high or low expression in midline nuclear complex relative to other tissues from the Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles dataset.
lethal midline granuloma Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease lethal midline granuloma in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
midline Gene Set From GeneRIF Biological Term Annotations genes co-occuring with the biological term midline in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.
cardioblast migration to the midline involved in heart field formation Gene Set From GO Biological Process Annotations 2015 genes participating in the cardioblast migration to the midline involved in heart field formation biological process from the curated GO Biological Process Annotations 2015 dataset.
cell migration to the midline involved in heart development Gene Set From GO Biological Process Annotations 2015 genes participating in the cell migration to the midline involved in heart development biological process from the curated GO Biological Process Annotations 2015 dataset.
ventral midline determination Gene Set From GO Biological Process Annotations 2015 genes participating in the ventral midline determination biological process from the curated GO Biological Process Annotations 2015 dataset.
axon midline choice point recognition Gene Set From GO Biological Process Annotations 2015 genes participating in the axon midline choice point recognition biological process from the curated GO Biological Process Annotations 2015 dataset.
ventral midline development Gene Set From GO Biological Process Annotations 2015 genes participating in the ventral midline development biological process from the curated GO Biological Process Annotations 2015 dataset.
non-midline cleft lip Gene Set From HPO Gene-Disease Associations genes associated with the non-midline cleft lip phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
midline facial capillary hemangioma Gene Set From HPO Gene-Disease Associations genes associated with the midline facial capillary hemangioma phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
midline facial cleft Gene Set From HPO Gene-Disease Associations genes associated with the midline facial cleft phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
midline nasal groove Gene Set From HPO Gene-Disease Associations genes associated with the midline nasal groove phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
non-midline cleft palate Gene Set From HPO Gene-Disease Associations genes associated with the non-midline cleft palate phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
midline skin dimples over anterior/posterior fontanelles Gene Set From HPO Gene-Disease Associations genes associated with the midline skin dimples over anterior/posterior fontanelles phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
midline central nervous system lipomas Gene Set From HPO Gene-Disease Associations genes associated with the midline central nervous system lipomas phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
Granuloma, Lethal Midline Gene Set From HuGE Navigator Gene-Phenotype Associations genes associated with the Granuloma, Lethal Midline phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.
Midline-1 Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Midline-1 protein domain from the InterPro Predicted Protein Domain Annotations dataset.
midline facial cleft Gene Set From MPO Gene-Phenotype Associations gene mutations causing the midline facial cleft phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.
abnormal palatal shelf fusion at midline Gene Set From MPO Gene-Phenotype Associations gene mutations causing the abnormal palatal shelf fusion at midline phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.
palatal shelves fail to meet at midline Gene Set From MPO Gene-Phenotype Associations gene mutations causing the palatal shelves fail to meet at midline phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.
Midline Cervical Cleft Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Midline Cervical Cleft in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Nut Midline Carcinoma Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Nut Midline Carcinoma in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Midline Facial Cleft Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Midline Facial Cleft in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Midline Nasal Groove Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Midline Nasal Groove in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Non-Midline Cleft Lip Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Non-Midline Cleft Lip in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Diffuse Midline Glioma, Point Mutation K27M In Histone H3 Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Diffuse Midline Glioma, Point Mutation K27M In Histone H3 in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Facial Midline Hemangioma Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Facial Midline Hemangioma in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Midline Central Nervous System Lipomas Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Midline Central Nervous System Lipomas in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Midline Facial Capillary Hemangioma Gene Set From DisGeNET Gene-Phenotype Associations genes associated with the phenotype Midline Facial Capillary Hemangioma in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.
Midline Notch Of Upper Alveolar Ridge Gene Set From DisGeNET Gene-Phenotype Associations genes associated with the phenotype Midline Notch Of Upper Alveolar Ridge in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.
Midline Skin Dimples Over Anterior/Posterior Fontanelles Gene Set From DisGeNET Gene-Phenotype Associations genes associated with the phenotype Midline Skin Dimples Over Anterior/Posterior Fontanelles in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.
axon midline choice point recognition Gene Set From GO Biological Process Annotations 2023 genes participating in the axon midline choice point recognition biological process from the curated GO Biological Process Annotations 2023 dataset.
ventral midline determination Gene Set From GO Biological Process Annotations 2023 genes participating in the ventral midline determination biological process from the curated GO Biological Process Annotations 2023 dataset.
cardioblast migration to the midline involved in heart field formation Gene Set From GO Biological Process Annotations 2023 genes participating in the cardioblast migration to the midline involved in heart field formation biological process from the curated GO Biological Process Annotations 2023 dataset.
cell migration to the midline involved in heart development Gene Set From GO Biological Process Annotations 2023 genes participating in the cell migration to the midline involved in heart development biological process from the curated GO Biological Process Annotations 2023 dataset.
midline facial cleft Gene Set From MGI Mouse Phenotype Associations 2023 gene mutations causing the midline facial cleft phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.
abnormal palatal shelf fusion at midline Gene Set From MGI Mouse Phenotype Associations 2023 gene mutations causing the abnormal palatal shelf fusion at midline phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.
palatal shelves fail to meet at midline Gene Set From MGI Mouse Phenotype Associations 2023 gene mutations causing the palatal shelves fail to meet at midline phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.
midline cleft upper lip Gene Set From MGI Mouse Phenotype Associations 2023 gene mutations causing the midline cleft upper lip phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.
axon midline choice point recognition Gene Set From GO Biological Process Annotations 2025 genes participating in the axon midline choice point recognition biological process from the curated GO Biological Process Annotations 2025 dataset.
ventral midline determination Gene Set From GO Biological Process Annotations 2025 genes participating in the ventral midline determination biological process from the curated GO Biological Process Annotations 2025 dataset.
cardioblast migration to the midline involved in heart field formation Gene Set From GO Biological Process Annotations 2025 genes participating in the cardioblast migration to the midline involved in heart field formation biological process from the curated GO Biological Process Annotations 2025 dataset.
cell migration to the midline involved in heart development Gene Set From GO Biological Process Annotations 2025 genes participating in the cell migration to the midline involved in heart development biological process from the curated GO Biological Process Annotations 2025 dataset.
NUT midline carcinoma Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease NUT midline carcinoma in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Diffuse midline glioma, H3 K27M-mutant Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Diffuse midline glioma, H3 K27M-mutant in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Lethal midline granuloma Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Lethal midline granuloma in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Midline cystocele Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Midline cystocele in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Diffuse midline glioma Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Diffuse midline glioma phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Midline facial cleft Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Midline facial cleft phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Primary somatosensory area, nose, layer 6b Gene Set From Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles genes with high or low expression in Primary somatosensory area, nose, layer 6b relative to other tissues from the Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles dataset.
Primary somatosensory area, nose, layer 6a Gene Set From Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles genes with high or low expression in Primary somatosensory area, nose, layer 6a relative to other tissues from the Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles dataset.
Primary somatosensory area, nose Gene Set From Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles genes with high or low expression in Primary somatosensory area, nose relative to other tissues from the Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles dataset.
Bifid Nose With Or Without Anorectal And Renal Anomalies Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Bifid Nose With Or Without Anorectal And Renal Anomalies from the curated CTD Gene-Disease Associations dataset.
Nose Neoplasms Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Nose Neoplasms from the curated CTD Gene-Disease Associations dataset.
Bifid nose Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Bifid nose from the curated CTD Gene-Disease Associations dataset.
nose disease Gene Set From DISEASES Experimental Gene-Disease Association Evidence Scores genes associated with the disease nose disease in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores dataset.
nose disease Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease nose disease in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
nose Gene Set From GeneRIF Biological Term Annotations genes co-occuring with the biological term nose in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.
nose morphogenesis Gene Set From GO Biological Process Annotations 2015 genes participating in the nose morphogenesis biological process from the curated GO Biological Process Annotations 2015 dataset.
nose development Gene Set From GO Biological Process Annotations 2015 genes participating in the nose development biological process from the curated GO Biological Process Annotations 2015 dataset.
nose disease Gene Set From GWASdb SNP-Disease Associations genes associated with the disease nose disease in GWAS and other genetic association datasets from the GWASdb SNP-Disease Associations dataset.
abnormality of the nose Gene Set From GWASdb SNP-Phenotype Associations genes associated with the abnormality of the nose phenotype in GWAS datasets from the GWASdb SNP-Phenotype Associations dataset.
aplasia/hypoplasia involving the nose Gene Set From HPO Gene-Disease Associations genes associated with the aplasia/hypoplasia involving the nose phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
short nose Gene Set From HPO Gene-Disease Associations genes associated with the short nose phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
bulbous nose Gene Set From HPO Gene-Disease Associations genes associated with the bulbous nose phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
wide nose Gene Set From HPO Gene-Disease Associations genes associated with the wide nose phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
aplasia of the nose Gene Set From HPO Gene-Disease Associations genes associated with the aplasia of the nose phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
cartilaginous ossification of nose Gene Set From HPO Gene-Disease Associations genes associated with the cartilaginous ossification of nose phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
bifid nose Gene Set From HPO Gene-Disease Associations genes associated with the bifid nose phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
pear-shaped nose Gene Set From HPO Gene-Disease Associations genes associated with the pear-shaped nose phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
large beaked nose Gene Set From HPO Gene-Disease Associations genes associated with the large beaked nose phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
neoplasm of the nose Gene Set From HPO Gene-Disease Associations genes associated with the neoplasm of the nose phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
prominent nose Gene Set From HPO Gene-Disease Associations genes associated with the prominent nose phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
long nose Gene Set From HPO Gene-Disease Associations genes associated with the long nose phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
slender nose Gene Set From HPO Gene-Disease Associations genes associated with the slender nose phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
abnormality of the external nose Gene Set From HPO Gene-Disease Associations genes associated with the abnormality of the external nose phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
narrow nose Gene Set From HPO Gene-Disease Associations genes associated with the narrow nose phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
abnormality of the nose Gene Set From HPO Gene-Disease Associations genes associated with the abnormality of the nose phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
Nose Neoplasms Gene Set From HuGE Navigator Gene-Phenotype Associations genes associated with the Nose Neoplasms phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.
abnormal nose morphology Gene Set From MPO Gene-Phenotype Associations gene mutations causing the abnormal nose morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.
bifid nose with or without anorectal and renal anomalies Gene Set From OMIM Gene-Disease Associations genes associated with the bifid nose with or without anorectal and renal anomalies phenotype from the curated OMIM Gene-Disease Associations dataset.
nose Gene Set From TISSUES Curated Tissue Protein Expression Evidence Scores proteins highly expressed in the tissue nose from the TISSUES Curated Tissue Protein Expression Evidence Scores dataset.
nose Gene Set From TISSUES Text-mining Tissue Protein Expression Evidence Scores proteins co-occuring with the tissue nose in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores dataset.
Large Beaked Nose Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Large Beaked Nose in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Bifid Nose Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Bifid Nose in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Fibrous Papule Of Nose Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Fibrous Papule Of Nose in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Cancer Of Nose Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Cancer Of Nose in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Congenital Anomaly Of Nose Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Congenital Anomaly Of Nose in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Short Nose Gene Set From DisGeNET Gene-Phenotype Associations genes associated with the phenotype Short Nose in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.
Bulbous Nose Gene Set From DisGeNET Gene-Phenotype Associations genes associated with the phenotype Bulbous Nose in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.
Long Nose Gene Set From DisGeNET Gene-Phenotype Associations genes associated with the phenotype Long Nose in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.
Narrow Nose Gene Set From DisGeNET Gene-Phenotype Associations genes associated with the phenotype Narrow Nose in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.
Large Nose Gene Set From DisGeNET Gene-Phenotype Associations genes associated with the phenotype Large Nose in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.
Wide Nose Gene Set From DisGeNET Gene-Phenotype Associations genes associated with the phenotype Wide Nose in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.
Large, Squared Nose Tip Gene Set From DisGeNET Gene-Phenotype Associations genes associated with the phenotype Large, Squared Nose Tip in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.
Short Upturned Nose Gene Set From DisGeNET Gene-Phenotype Associations genes associated with the phenotype Short Upturned Nose in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.
Nose Symptoms Gene Set From DisGeNET Gene-Phenotype Associations genes associated with the phenotype Nose Symptoms in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.
Saddle Nose Gene Set From DisGeNET Gene-Phenotype Associations genes associated with the phenotype Saddle Nose in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.
Slender Nose Gene Set From DisGeNET Gene-Phenotype Associations genes associated with the phenotype Slender Nose in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.
Aplasia/Hypoplasia Involving The Nose Gene Set From DisGeNET Gene-Phenotype Associations genes associated with the phenotype Aplasia/Hypoplasia Involving The Nose in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.
Pear-Shaped Nose Gene Set From DisGeNET Gene-Phenotype Associations genes associated with the phenotype Pear-Shaped Nose in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.
Cartilaginous Ossification Of Nose Gene Set From DisGeNET Gene-Phenotype Associations genes associated with the phenotype Cartilaginous Ossification Of Nose in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.
Pain Of Nose Gene Set From DisGeNET Gene-Phenotype Associations genes associated with the phenotype Pain Of Nose in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.
nose development Gene Set From GO Biological Process Annotations 2023 genes participating in the nose development biological process from the curated GO Biological Process Annotations 2023 dataset.
nose morphogenesis Gene Set From GO Biological Process Annotations 2023 genes participating in the nose morphogenesis biological process from the curated GO Biological Process Annotations 2023 dataset.
abnormal nose morphology Gene Set From MGI Mouse Phenotype Associations 2023 gene mutations causing the abnormal nose morphology phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.
bifid nose Gene Set From MGI Mouse Phenotype Associations 2023 gene mutations causing the bifid nose phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.
nose development Gene Set From GO Biological Process Annotations 2025 genes participating in the nose development biological process from the curated GO Biological Process Annotations 2025 dataset.
nose morphogenesis Gene Set From GO Biological Process Annotations 2025 genes participating in the nose morphogenesis biological process from the curated GO Biological Process Annotations 2025 dataset.
Nose disease Gene Set From DISEASES Experimental Gene-Disease Association Evidence Scores 2025 genes associated with the disease Nose disease in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores 2025 dataset.
Nose disease Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Nose disease in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Autoimmune disease of eyes, ear, nose and throat Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Autoimmune disease of eyes, ear, nose and throat in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Nose Gene Set From TISSUES Curated Tissue Protein Expression Evidence Scores 2025 proteins highly expressed in the tissue Nose from the TISSUES Curated Tissue Protein Expression Evidence Scores 2025 dataset.
Nose Gene Set From TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 proteins co-occuring with the tissue Nose in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 dataset.
Pear-shaped nose Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Pear-shaped nose phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Nose size Gene Set From GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Nose size phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.
Nose morphology Gene Set From GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Nose morphology phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.
Nose length Gene Set From GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Nose length phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.
Nose morphology (partial least square model) Gene Set From GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Nose morphology (partial least square model) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.
Dandy-Walker like malformation with atrioventricular septal defect Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Dandy-Walker like malformation with atrioventricular septal defect phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Protan defect Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Protan defect phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Cardiac conduction defect, nonspecific Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Cardiac conduction defect, nonspecific phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Atrial septal defect 7 with or without atrioventricular conduction defects Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Atrial septal defect 7 with or without atrioventricular conduction defects phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Immunodeficiency, X-Linked, with magnesium defect, Epstein-Barr virus infection, and neoplasia Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Immunodeficiency, X-Linked, with magnesium defect, Epstein-Barr virus infection, and neoplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Phosphate transport defect Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Phosphate transport defect phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Neutral 1 amino acid transport defect Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Neutral 1 amino acid transport defect phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Ventricular septal defect 3 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Ventricular septal defect 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Ventricular septal defect 1 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Ventricular septal defect 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Atrial septal defect 2 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Atrial septal defect 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Laron-type isolated somatotropin defect Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Laron-type isolated somatotropin defect phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Neural tube defect Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Neural tube defect phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Atrioventricular septal defect, partial, with heterotaxy syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Atrioventricular septal defect, partial, with heterotaxy syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Bile acid synthesis defect, congenital, 1 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Bile acid synthesis defect, congenital, 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Bile acid synthesis defect, congenital, 2 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Bile acid synthesis defect, congenital, 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Glucose-6-phosphate transport defect Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Glucose-6-phosphate transport defect phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Iodotyrosine deiodination defect Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Iodotyrosine deiodination defect phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Thrombophilia due to thrombomodulin defect Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Thrombophilia due to thrombomodulin defect phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Renal carnitine transport defect Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Renal carnitine transport defect phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Atrioventricular septal defect 4 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Atrioventricular septal defect 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Atrioventricular septal defect 5 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Atrioventricular septal defect 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Immunodeficiency due to defect in cd3-zeta Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Immunodeficiency due to defect in cd3-zeta phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Erythrocyte lactate transporter defect Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Erythrocyte lactate transporter defect phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Atrial septal defect 6 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Atrial septal defect 6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Atrial septal defect 4 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Atrial septal defect 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Atrial septal defect 3 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Atrial septal defect 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Homocystinuria-Megaloblastic anemia due to defect in cobalamin metabolism, cblE complementation type Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Homocystinuria-Megaloblastic anemia due to defect in cobalamin metabolism, cblE complementation type phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Congenital defect of folate absorption Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Congenital defect of folate absorption phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Oocyte maturation defect Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Oocyte maturation defect phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Immune dysfunction with T-cell inactivation due to calcium entry defect 1 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Immune dysfunction with T-cell inactivation due to calcium entry defect 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Immune dysfunction with T-cell inactivation due to calcium entry defect 2 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Immune dysfunction with T-cell inactivation due to calcium entry defect 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Iodotyrosyl coupling defect Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Iodotyrosyl coupling defect phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Thrombophilia, X-Linked, Due To Factor Ix Defect Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Thrombophilia, X-Linked, Due To Factor Ix Defect from the curated CTD Gene-Disease Associations dataset.
Sacral defect and anterior sacral meningocele Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Sacral defect and anterior sacral meningocele from the curated CTD Gene-Disease Associations dataset.
Homocystinuria-Megaloblastic Anemia due to Defect in Cobalamin Metabolism, CblE Complementation Type Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Homocystinuria-Megaloblastic Anemia due to Defect in Cobalamin Metabolism, CblE Complementation Type from the curated CTD Gene-Disease Associations dataset.
Cardiac Conduction Defect Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Cardiac Conduction Defect from the curated CTD Gene-Disease Associations dataset.
Atrial septal defect 2 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Atrial septal defect 2 from the curated CTD Gene-Disease Associations dataset.
ATRIOVENTRICULAR SEPTAL DEFECT 3 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease ATRIOVENTRICULAR SEPTAL DEFECT 3 from the curated CTD Gene-Disease Associations dataset.
Atrioventricular Septal Defect, Partial, with Heterotaxy Syndrome Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Atrioventricular Septal Defect, Partial, with Heterotaxy Syndrome from the curated CTD Gene-Disease Associations dataset.
Bile acid synthesis defect, congenital, 2 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Bile acid synthesis defect, congenital, 2 from the curated CTD Gene-Disease Associations dataset.
Bile acid synthesis defect, congenital, 4 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Bile acid synthesis defect, congenital, 4 from the curated CTD Gene-Disease Associations dataset.
METHYLMALONIC ACIDURIA DUE TO TRANSCOBALAMIN RECEPTOR DEFECT Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease METHYLMALONIC ACIDURIA DUE TO TRANSCOBALAMIN RECEPTOR DEFECT from the curated CTD Gene-Disease Associations dataset.
Atrial Septal Defect 4 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Atrial Septal Defect 4 from the curated CTD Gene-Disease Associations dataset.
Atrioventricular Canal Defect Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Atrioventricular Canal Defect from the curated CTD Gene-Disease Associations dataset.
Bile acid synthesis defect, congenital, 1 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Bile acid synthesis defect, congenital, 1 from the curated CTD Gene-Disease Associations dataset.
Neural tube defect, folate-sensitive Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Neural tube defect, folate-sensitive from the curated CTD Gene-Disease Associations dataset.
Atrial Septal Defect 6 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Atrial Septal Defect 6 from the curated CTD Gene-Disease Associations dataset.
NATURAL KILLER CELL AND GLUCOCORTICOID DEFICIENCY WITH DNA REPAIR DEFECT Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease NATURAL KILLER CELL AND GLUCOCORTICOID DEFICIENCY WITH DNA REPAIR DEFECT from the curated CTD Gene-Disease Associations dataset.
Immunodeficiency due to Defect in CD3-Zeta Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Immunodeficiency due to Defect in CD3-Zeta from the curated CTD Gene-Disease Associations dataset.
Atrial Septal Defect 5 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Atrial Septal Defect 5 from the curated CTD Gene-Disease Associations dataset.
Atrial Septal Defect 1 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Atrial Septal Defect 1 from the curated CTD Gene-Disease Associations dataset.
Erythrocyte Lactate Transporter Defect Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Erythrocyte Lactate Transporter Defect from the curated CTD Gene-Disease Associations dataset.
Immunodeficiency due to Defect in MAPBP-Interacting Protein Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Immunodeficiency due to Defect in MAPBP-Interacting Protein from the curated CTD Gene-Disease Associations dataset.
Immune dysfunction with T-cell inactivation due to calcium entry defect 1 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Immune dysfunction with T-cell inactivation due to calcium entry defect 1 from the curated CTD Gene-Disease Associations dataset.
Immune dysfunction with T-cell inactivation due to calcium entry defect 2 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Immune dysfunction with T-cell inactivation due to calcium entry defect 2 from the curated CTD Gene-Disease Associations dataset.
ATRIAL SEPTAL DEFECT 7 WITH OR WITHOUT ATRIOVENTRICULAR CONDUCTION DEFECTS Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease ATRIAL SEPTAL DEFECT 7 WITH OR WITHOUT ATRIOVENTRICULAR CONDUCTION DEFECTS from the curated CTD Gene-Disease Associations dataset.
atrial heart septal defect Gene Set From DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease atrial heart septal defect from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.
heart septal defect Gene Set From DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease heart septal defect from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.
heart septal defect Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease heart septal defect in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
ventricular septal defect Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease ventricular septal defect in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
alcohol-related birth defect Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease alcohol-related birth defect in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
atrioventricular septal defect Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease atrioventricular septal defect in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
congenital bile acid synthesis defect Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease congenital bile acid synthesis defect in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
atrial heart septal defect Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease atrial heart septal defect in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
qualitative platelet defect Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease qualitative platelet defect in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
human spermatogenic defect Gene Set From GAD Gene-Disease Associations genes associated with the disease human spermatogenic defect in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
defect Gene Set From GeneRIF Biological Term Annotations genes co-occuring with the biological term defect in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.
conotruncal defect Gene Set From GWASdb SNP-Phenotype Associations genes associated with the conotruncal defect phenotype in GWAS datasets from the GWASdb SNP-Phenotype Associations dataset.
thyroid hormone receptor defect Gene Set From HPO Gene-Disease Associations genes associated with the thyroid hormone receptor defect phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
ventricular septal defect Gene Set From HPO Gene-Disease Associations genes associated with the ventricular septal defect phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
vertebral segmentation defect Gene Set From HPO Gene-Disease Associations genes associated with the vertebral segmentation defect phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
electron transfer flavoprotein-ubiquinone oxidoreductase defect Gene Set From HPO Gene-Disease Associations genes associated with the electron transfer flavoprotein-ubiquinone oxidoreductase defect phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
secundum atrial septal defect Gene Set From HPO Gene-Disease Associations genes associated with the secundum atrial septal defect phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
dynein arm defect of respiratory motile cilia Gene Set From HPO Gene-Disease Associations genes associated with the dynein arm defect of respiratory motile cilia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
inlet ventricular septal defect Gene Set From HPO Gene-Disease Associations genes associated with the inlet ventricular septal defect phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
thyroid defect in oxidation and organification of iodide Gene Set From HPO Gene-Disease Associations genes associated with the thyroid defect in oxidation and organification of iodide phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
adrenocorticotropin (acth) receptor (acthr) defect Gene Set From HPO Gene-Disease Associations genes associated with the adrenocorticotropin (acth) receptor (acthr) defect phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
sacral segmentation defect Gene Set From HPO Gene-Disease Associations genes associated with the sacral segmentation defect phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
abdominal wall defect Gene Set From HPO Gene-Disease Associations genes associated with the abdominal wall defect phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
visual field defect Gene Set From HPO Gene-Disease Associations genes associated with the visual field defect phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
atrioventricular canal defect with right ventricle aorta and pulmonary atresia Gene Set From HPO Gene-Disease Associations genes associated with the atrioventricular canal defect with right ventricle aorta and pulmonary atresia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
muscular ventricular septal defect Gene Set From HPO Gene-Disease Associations genes associated with the muscular ventricular septal defect phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
defect in the atrial septum Gene Set From HPO Gene-Disease Associations genes associated with the defect in the atrial septum phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
congenital septal defect Gene Set From HPO Gene-Disease Associations genes associated with the congenital septal defect phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
skull defect Gene Set From HPO Gene-Disease Associations genes associated with the skull defect phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
generalized hypotonia due to defect at the neuromuscular junction Gene Set From HPO Gene-Disease Associations genes associated with the generalized hypotonia due to defect at the neuromuscular junction phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
cervical segmentation defect Gene Set From HPO Gene-Disease Associations genes associated with the cervical segmentation defect phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
atrioventricular canal defect Gene Set From HPO Gene-Disease Associations genes associated with the atrioventricular canal defect phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
perimembranous ventricular septal defect Gene Set From HPO Gene-Disease Associations genes associated with the perimembranous ventricular septal defect phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
complete atrioventricular canal defect Gene Set From HPO Gene-Disease Associations genes associated with the complete atrioventricular canal defect phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
large central visual field defect Gene Set From HPO Gene-Disease Associations genes associated with the large central visual field defect phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
conotruncal defect Gene Set From HPO Gene-Disease Associations genes associated with the conotruncal defect phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
primum atrial septal defect Gene Set From HPO Gene-Disease Associations genes associated with the primum atrial septal defect phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
Mannose-P-dolichol utilization defect 1 protein Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Mannose-P-dolichol utilization defect 1 protein protein domain from the InterPro Predicted Protein Domain Annotations dataset.
atrial septal defect Gene Set From MPO Gene-Phenotype Associations gene mutations causing the atrial septal defect phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.
ventricular septal defect Gene Set From MPO Gene-Phenotype Associations gene mutations causing the ventricular septal defect phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.
perimembraneous ventricular septal defect Gene Set From MPO Gene-Phenotype Associations gene mutations causing the perimembraneous ventricular septal defect phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.
partial atrioventricular septal defect Gene Set From MPO Gene-Phenotype Associations gene mutations causing the partial atrioventricular septal defect phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.
inlet ventricular septal defect Gene Set From MPO Gene-Phenotype Associations gene mutations causing the inlet ventricular septal defect phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.
double outlet right ventricle with atrioventricular septal defect Gene Set From MPO Gene-Phenotype Associations gene mutations causing the double outlet right ventricle with atrioventricular septal defect phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.
iodide oxidation defect Gene Set From MPO Gene-Phenotype Associations gene mutations causing the iodide oxidation defect phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.
aorticopulmonary septal defect Gene Set From MPO Gene-Phenotype Associations gene mutations causing the aorticopulmonary septal defect phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.
double outlet right ventricle, ventricular defect committed to aorta Gene Set From MPO Gene-Phenotype Associations gene mutations causing the double outlet right ventricle, ventricular defect committed to aorta phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.
muscular ventricular septal defect Gene Set From MPO Gene-Phenotype Associations gene mutations causing the muscular ventricular septal defect phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.
ostium primum atrial septal defect Gene Set From MPO Gene-Phenotype Associations gene mutations causing the ostium primum atrial septal defect phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.
complete atrioventricular septal defect Gene Set From MPO Gene-Phenotype Associations gene mutations causing the complete atrioventricular septal defect phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.
ostium secundum atrial septal defect Gene Set From MPO Gene-Phenotype Associations gene mutations causing the ostium secundum atrial septal defect phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.
atrioventricular septal defect Gene Set From MPO Gene-Phenotype Associations gene mutations causing the atrioventricular septal defect phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.
thrombophilia due to thrombomodulin defect Gene Set From OMIM Gene-Disease Associations genes associated with the thrombophilia due to thrombomodulin defect phenotype from the curated OMIM Gene-Disease Associations dataset.
bleeding disorder due to p2rx1 defect Gene Set From OMIM Gene-Disease Associations genes associated with the bleeding disorder due to p2rx1 defect phenotype from the curated OMIM Gene-Disease Associations dataset.
schizophrenia, neurophysiologic defect in Gene Set From OMIM Gene-Disease Associations genes associated with the schizophrenia, neurophysiologic defect in phenotype from the curated OMIM Gene-Disease Associations dataset.
{atrioventricular septal defect, susceptibility to, 1} Gene Set From OMIM Gene-Disease Associations genes associated with the {atrioventricular septal defect, susceptibility to, 1} phenotype from the curated OMIM Gene-Disease Associations dataset.
?isolated growth hormone deficiency due to defect in ghrf Gene Set From OMIM Gene-Disease Associations genes associated with the ?isolated growth hormone deficiency due to defect in ghrf phenotype from the curated OMIM Gene-Disease Associations dataset.
erythrocyte lactate transporter defect Gene Set From OMIM Gene-Disease Associations genes associated with the erythrocyte lactate transporter defect phenotype from the curated OMIM Gene-Disease Associations dataset.
natural killer cell and glucocorticoid deficiency with dna repair defect Gene Set From OMIM Gene-Disease Associations genes associated with the natural killer cell and glucocorticoid deficiency with dna repair defect phenotype from the curated OMIM Gene-Disease Associations dataset.
ventricular septal defect 2 Gene Set From OMIM Gene-Disease Associations genes associated with the ventricular septal defect 2 phenotype from the curated OMIM Gene-Disease Associations dataset.
ventricular septal defect 3 Gene Set From OMIM Gene-Disease Associations genes associated with the ventricular septal defect 3 phenotype from the curated OMIM Gene-Disease Associations dataset.
selective t-cell defect Gene Set From OMIM Gene-Disease Associations genes associated with the selective t-cell defect phenotype from the curated OMIM Gene-Disease Associations dataset.
{hypercholesterolemia, familial, due to ldlr defect, modifier of} Gene Set From OMIM Gene-Disease Associations genes associated with the {hypercholesterolemia, familial, due to ldlr defect, modifier of} phenotype from the curated OMIM Gene-Disease Associations dataset.
atrial septal defect 6 Gene Set From OMIM Gene-Disease Associations genes associated with the atrial septal defect 6 phenotype from the curated OMIM Gene-Disease Associations dataset.
atrial septal defect 5 Gene Set From OMIM Gene-Disease Associations genes associated with the atrial septal defect 5 phenotype from the curated OMIM Gene-Disease Associations dataset.
atrial septal defect 4 Gene Set From OMIM Gene-Disease Associations genes associated with the atrial septal defect 4 phenotype from the curated OMIM Gene-Disease Associations dataset.
atrial septal defect 3 Gene Set From OMIM Gene-Disease Associations genes associated with the atrial septal defect 3 phenotype from the curated OMIM Gene-Disease Associations dataset.
atrial septal defect 2 Gene Set From OMIM Gene-Disease Associations genes associated with the atrial septal defect 2 phenotype from the curated OMIM Gene-Disease Associations dataset.
atrial septal defect 1 Gene Set From OMIM Gene-Disease Associations genes associated with the atrial septal defect 1 phenotype from the curated OMIM Gene-Disease Associations dataset.
atrial septal defect 9 Gene Set From OMIM Gene-Disease Associations genes associated with the atrial septal defect 9 phenotype from the curated OMIM Gene-Disease Associations dataset.
atrial septal defect 8 Gene Set From OMIM Gene-Disease Associations genes associated with the atrial septal defect 8 phenotype from the curated OMIM Gene-Disease Associations dataset.
atrioventricular septal defect, partial, with heterotaxy syndrome Gene Set From OMIM Gene-Disease Associations genes associated with the atrioventricular septal defect, partial, with heterotaxy syndrome phenotype from the curated OMIM Gene-Disease Associations dataset.
bile acid synthesis defect, congenital, 1 Gene Set From OMIM Gene-Disease Associations genes associated with the bile acid synthesis defect, congenital, 1 phenotype from the curated OMIM Gene-Disease Associations dataset.
bile acid synthesis defect, congenital, 3 Gene Set From OMIM Gene-Disease Associations genes associated with the bile acid synthesis defect, congenital, 3 phenotype from the curated OMIM Gene-Disease Associations dataset.
bile acid synthesis defect, congenital, 2 Gene Set From OMIM Gene-Disease Associations genes associated with the bile acid synthesis defect, congenital, 2 phenotype from the curated OMIM Gene-Disease Associations dataset.
bile acid synthesis defect, congenital, 4 Gene Set From OMIM Gene-Disease Associations genes associated with the bile acid synthesis defect, congenital, 4 phenotype from the curated OMIM Gene-Disease Associations dataset.
ventricular septal defect 1 Gene Set From OMIM Gene-Disease Associations genes associated with the ventricular septal defect 1 phenotype from the curated OMIM Gene-Disease Associations dataset.
cardiac conduction defect, nonspecific Gene Set From OMIM Gene-Disease Associations genes associated with the cardiac conduction defect, nonspecific phenotype from the curated OMIM Gene-Disease Associations dataset.
rickets due to defect in vitamin d 25-hydroxylation Gene Set From OMIM Gene-Disease Associations genes associated with the rickets due to defect in vitamin d 25-hydroxylation phenotype from the curated OMIM Gene-Disease Associations dataset.
{atrioventricular septal defect, susceptibility to, 2} Gene Set From OMIM Gene-Disease Associations genes associated with the {atrioventricular septal defect, susceptibility to, 2} phenotype from the curated OMIM Gene-Disease Associations dataset.
oocyte maturation defect Gene Set From OMIM Gene-Disease Associations genes associated with the oocyte maturation defect phenotype from the curated OMIM Gene-Disease Associations dataset.
methylmalonic aciduria due to transcobalamin receptor defect Gene Set From OMIM Gene-Disease Associations genes associated with the methylmalonic aciduria due to transcobalamin receptor defect phenotype from the curated OMIM Gene-Disease Associations dataset.
atrioventricular septal defect 3 Gene Set From OMIM Gene-Disease Associations genes associated with the atrioventricular septal defect 3 phenotype from the curated OMIM Gene-Disease Associations dataset.
atrioventricular septal defect 4 Gene Set From OMIM Gene-Disease Associations genes associated with the atrioventricular septal defect 4 phenotype from the curated OMIM Gene-Disease Associations dataset.
atrioventricular septal defect 5 Gene Set From OMIM Gene-Disease Associations genes associated with the atrioventricular septal defect 5 phenotype from the curated OMIM Gene-Disease Associations dataset.
thrombophilia, x-linked, due to factor ix defect Gene Set From OMIM Gene-Disease Associations genes associated with the thrombophilia, x-linked, due to factor ix defect phenotype from the curated OMIM Gene-Disease Associations dataset.
atrial septal defect 7, with or without av conduction defects Gene Set From OMIM Gene-Disease Associations genes associated with the atrial septal defect 7, with or without av conduction defects phenotype from the curated OMIM Gene-Disease Associations dataset.
immunodeficiency due to defect in mapbp-interacting protein Gene Set From OMIM Gene-Disease Associations genes associated with the immunodeficiency due to defect in mapbp-interacting protein phenotype from the curated OMIM Gene-Disease Associations dataset.
goiter, familial, due to ttf-1 defect Gene Set From OMIM Gene-Disease Associations genes associated with the goiter, familial, due to ttf-1 defect phenotype from the curated OMIM Gene-Disease Associations dataset.
immunodeficiency, x-linked, with magnesium defect, epstein-barr virus infection and neoplasia Gene Set From OMIM Gene-Disease Associations genes associated with the immunodeficiency, x-linked, with magnesium defect, epstein-barr virus infection and neoplasia phenotype from the curated OMIM Gene-Disease Associations dataset.
thrombophilia due to thrombin defect Gene Set From OMIM Gene-Disease Associations genes associated with the thrombophilia due to thrombin defect phenotype from the curated OMIM Gene-Disease Associations dataset.
{cardiac conduction defect, susceptibility to} Gene Set From OMIM Gene-Disease Associations genes associated with the {cardiac conduction defect, susceptibility to} phenotype from the curated OMIM Gene-Disease Associations dataset.
methylmalonic aciduria, vitamin b12-responsive, due to defect in synthesis of adenosylcobalamin, cblb complementation type Gene Set From OMIM Gene-Disease Associations genes associated with the methylmalonic aciduria, vitamin b12-responsive, due to defect in synthesis of adenosylcobalamin, cblb complementation type phenotype from the curated OMIM Gene-Disease Associations dataset.
Defective CYP7B1 causes Spastic paraplegia 5A, autosomal recessive (SPG5A) and Congenital bile acid synthesis defect 3 (CBAS3) Gene Set From Reactome Pathways 2014 proteins participating in the Defective CYP7B1 causes Spastic paraplegia 5A, autosomal recessive (SPG5A) and Congenital bile acid synthesis defect 3 (CBAS3) pathway from the Reactome Pathways dataset.
Histidinuria Renal Tubular Defect Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Histidinuria Renal Tubular Defect in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Bile Acid Synthesis Defect Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Bile Acid Synthesis Defect in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Renal Carnitine Transport Defect Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Renal Carnitine Transport Defect in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Atrioventricular Canal Defect Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Atrioventricular Canal Defect in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Atrioventricular Septal Defect Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Atrioventricular Septal Defect in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Aortopulmonary Septal Defect Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Aortopulmonary Septal Defect in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Atrial Septal Defect Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Atrial Septal Defect in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Ostium Secundum Atrial Septal Defect Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Ostium Secundum Atrial Septal Defect in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Alcohol Related Birth Defect Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Alcohol Related Birth Defect in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Glucose-6-Phosphate Transport Defect Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Glucose-6-Phosphate Transport Defect in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Ventilatory Defect Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Ventilatory Defect in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Calvarial Skull Defect Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Calvarial Skull Defect in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Single Ventricle Defect Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Single Ventricle Defect in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Congenital Defect Of Skull And Scalp Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Congenital Defect Of Skull And Scalp in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Coronary Sinus Defect Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Coronary Sinus Defect in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Muscular Ventricular Septum Defect Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Muscular Ventricular Septum Defect in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Perimembranous Ventricular Septal Defect Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Perimembranous Ventricular Septal Defect in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Triple Gene Defect Alpha Thalassemia Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Triple Gene Defect Alpha Thalassemia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Defect Of Vertebral Segmentation Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Defect Of Vertebral Segmentation in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Glycosylphosphatidylinositol Biosynthesis Defect Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Glycosylphosphatidylinositol Biosynthesis Defect in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Cardiac Conduction Defect Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Cardiac Conduction Defect in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Patent Or Persistent Ostium Secundum Defect (Type Ii) Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Patent Or Persistent Ostium Secundum Defect (Type Ii) in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Patent Or Persistent Sinus Venosus Defect Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Patent Or Persistent Sinus Venosus Defect in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Antibody Deficiency Due To Defect In Cd19 Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Antibody Deficiency Due To Defect In Cd19 in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Conotruncal Defect Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Conotruncal Defect in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Ventricular Septal Defect Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Ventricular Septal Defect in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Obstructive Ventilatory Defect Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Obstructive Ventilatory Defect in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Atrioventricular Septal Defect, Partial, With Heterotaxy Syndrome Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Atrioventricular Septal Defect, Partial, With Heterotaxy Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Partial Defect Of Atrioventricular Canal Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Partial Defect Of Atrioventricular Canal in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Synthetic Defect Of Bile Acids Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Synthetic Defect Of Bile Acids in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Congenital Bile Acid Synthesis Defect Type 3 Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Congenital Bile Acid Synthesis Defect Type 3 in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Transitional Atrioventricular Canal Defect Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Transitional Atrioventricular Canal Defect in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Hereditary Bundle Branch System Defect Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Hereditary Bundle Branch System Defect in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Thyroid Hormone Plasma Membrane Transport Defect Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Thyroid Hormone Plasma Membrane Transport Defect in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Defect Of Articular Cartilage Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Defect Of Articular Cartilage in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Thoracoabdominal Wall Defect Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Thoracoabdominal Wall Defect in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Pulmonary Atresia With Ventricular Septal Defect Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Pulmonary Atresia With Ventricular Septal Defect in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Membranous Ventricular Septum Defect Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Membranous Ventricular Septum Defect in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Congenital Defect Of The Pericardium Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Congenital Defect Of The Pericardium in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Insulin Receptor, Defect In Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Insulin Receptor, Defect In in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Iodide Transport Defect Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Iodide Transport Defect in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Neural Tube Defect, Folate-Sensitive Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Neural Tube Defect, Folate-Sensitive in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Double Outlet Right Ventricle With Doubly Committed Ventricular Septal Defect And Pulmonary Stenosis Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Double Outlet Right Ventricle With Doubly Committed Ventricular Septal Defect And Pulmonary Stenosis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Adenosylcobalamin Synthesis Defect Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Adenosylcobalamin Synthesis Defect in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Oocyte Maturation Defect Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Oocyte Maturation Defect in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Sacral Defect And Anterior Sacral Meningocele Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Sacral Defect And Anterior Sacral Meningocele in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Renal Tubular Defect Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Renal Tubular Defect in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Congenitally Corrected Transposition Of The Great Arteries With Ventricular Septal Defect Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Congenitally Corrected Transposition Of The Great Arteries With Ventricular Septal Defect in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Cardiac Valvular Defect, Developmental Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Cardiac Valvular Defect, Developmental in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Ulnar-Fibular Ray Defect And Brachydactyly Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Ulnar-Fibular Ray Defect And Brachydactyly in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Cardiac Conduction Defect, Nonprogressive Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Cardiac Conduction Defect, Nonprogressive in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Corneal Defect Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Corneal Defect in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Fibrinolytic Defect Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Fibrinolytic Defect in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Erythrocyte Lactate Transporter Defect Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Erythrocyte Lactate Transporter Defect in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Mondini Defect Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Mondini Defect in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Heart Defect, Tongue Hamartoma And Polysyndactyly Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Heart Defect, Tongue Hamartoma And Polysyndactyly in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Mucociliary Clearance Defect Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Mucociliary Clearance Defect in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Adrenocorticotropin Receptor Defect Gene Set From DisGeNET Gene-Phenotype Associations genes associated with the phenotype Adrenocorticotropin Receptor Defect in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.
Color Vision Defect Gene Set From DisGeNET Gene-Phenotype Associations genes associated with the phenotype Color Vision Defect in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.
Maturation Defect Gene Set From DisGeNET Gene-Phenotype Associations genes associated with the phenotype Maturation Defect in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.
Restrictive Ventilatory Defect Gene Set From DisGeNET Gene-Phenotype Associations genes associated with the phenotype Restrictive Ventilatory Defect in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.
Heart Defect (In Some Patients) Gene Set From DisGeNET Gene-Phenotype Associations genes associated with the phenotype Heart Defect (In Some Patients) in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.
Cardiac Conduction Defect Gene Set From DisGeNET Gene-Phenotype Associations genes associated with the phenotype Cardiac Conduction Defect in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.
Retinal Defect Gene Set From DisGeNET Gene-Phenotype Associations genes associated with the phenotype Retinal Defect in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.
Glaucomatous Visual Field Defect Gene Set From DisGeNET Gene-Phenotype Associations genes associated with the phenotype Glaucomatous Visual Field Defect in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.
Dynein Arm Defect Of Respiratory Motile Cilia Gene Set From DisGeNET Gene-Phenotype Associations genes associated with the phenotype Dynein Arm Defect Of Respiratory Motile Cilia in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.
Generalized Hypotonia Due To Defect At The Neuromuscular Junction Gene Set From DisGeNET Gene-Phenotype Associations genes associated with the phenotype Generalized Hypotonia Due To Defect At The Neuromuscular Junction in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.
Iris Transillumination Defect Gene Set From DisGeNET Gene-Phenotype Associations genes associated with the phenotype Iris Transillumination Defect in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.
Iodide Organification Defect Gene Set From DisGeNET Gene-Phenotype Associations genes associated with the phenotype Iodide Organification Defect in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.
Electron Transfer Flavoprotein-Ubiquinone Oxidoreductase Defect Gene Set From DisGeNET Gene-Phenotype Associations genes associated with the phenotype Electron Transfer Flavoprotein-Ubiquinone Oxidoreductase Defect in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.
Cervical Segmentation Defect Gene Set From DisGeNET Gene-Phenotype Associations genes associated with the phenotype Cervical Segmentation Defect in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.
Lacrimal Duct Defect Gene Set From DisGeNET Gene-Phenotype Associations genes associated with the phenotype Lacrimal Duct Defect in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.
Large Central Visual Field Defect Gene Set From DisGeNET Gene-Phenotype Associations genes associated with the phenotype Large Central Visual Field Defect in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.
Unbalanced Atrioventricular Canal Defect Gene Set From DisGeNET Gene-Phenotype Associations genes associated with the phenotype Unbalanced Atrioventricular Canal Defect in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.
Afferent Pupillary Defect Gene Set From DisGeNET Gene-Phenotype Associations genes associated with the phenotype Afferent Pupillary Defect in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.
Ventral Septal Defect Gene Set From DisGeNET Gene-Phenotype Associations genes associated with the phenotype Ventral Septal Defect in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.
Thyroid Defect In Oxidation And Organification Of Iodide Gene Set From DisGeNET Gene-Phenotype Associations genes associated with the phenotype Thyroid Defect In Oxidation And Organification Of Iodide in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.
Activating Thyroid-Stimulating Hormone Receptor Defect Gene Set From DisGeNET Gene-Phenotype Associations genes associated with the phenotype Activating Thyroid-Stimulating Hormone Receptor Defect in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.
perimembraneous ventricular septal defect Gene Set From MGI Mouse Phenotype Associations 2023 gene mutations causing the perimembraneous ventricular septal defect phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.
ventricular septal defect Gene Set From MGI Mouse Phenotype Associations 2023 gene mutations causing the ventricular septal defect phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.
double outlet right ventricle with atrioventricular septal defect Gene Set From MGI Mouse Phenotype Associations 2023 gene mutations causing the double outlet right ventricle with atrioventricular septal defect phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.
atrial septal defect Gene Set From MGI Mouse Phenotype Associations 2023 gene mutations causing the atrial septal defect phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.
atrioventricular septal defect Gene Set From MGI Mouse Phenotype Associations 2023 gene mutations causing the atrioventricular septal defect phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.
ostium secundum atrial septal defect Gene Set From MGI Mouse Phenotype Associations 2023 gene mutations causing the ostium secundum atrial septal defect phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.
complete atrioventricular septal defect Gene Set From MGI Mouse Phenotype Associations 2023 gene mutations causing the complete atrioventricular septal defect phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.
muscular ventricular septal defect Gene Set From MGI Mouse Phenotype Associations 2023 gene mutations causing the muscular ventricular septal defect phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.
ostium primum atrial septal defect Gene Set From MGI Mouse Phenotype Associations 2023 gene mutations causing the ostium primum atrial septal defect phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.
inlet ventricular septal defect Gene Set From MGI Mouse Phenotype Associations 2023 gene mutations causing the inlet ventricular septal defect phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.
aorticopulmonary septal defect Gene Set From MGI Mouse Phenotype Associations 2023 gene mutations causing the aorticopulmonary septal defect phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.
iodide oxidation defect Gene Set From MGI Mouse Phenotype Associations 2023 gene mutations causing the iodide oxidation defect phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.
partial atrioventricular septal defect Gene Set From MGI Mouse Phenotype Associations 2023 gene mutations causing the partial atrioventricular septal defect phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.
double outlet right ventricle, ventricular defect committed to aorta Gene Set From MGI Mouse Phenotype Associations 2023 gene mutations causing the double outlet right ventricle, ventricular defect committed to aorta phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.
double outlet right ventricle, noncommitted ventricular septal defect Gene Set From MGI Mouse Phenotype Associations 2023 gene mutations causing the double outlet right ventricle, noncommitted ventricular septal defect phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.
subarterial ventricular septal defect Gene Set From MGI Mouse Phenotype Associations 2023 gene mutations causing the subarterial ventricular septal defect phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.
repair of mitotic kinetochore microtubule attachment defect Gene Set From GO Biological Process Annotations 2025 genes participating in the repair of mitotic kinetochore microtubule attachment defect biological process from the curated GO Biological Process Annotations 2025 dataset.
Atrial heart septal defect Gene Set From DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Atrial heart septal defect from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.
Heart septal defect Gene Set From DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Heart septal defect from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.
Neural tube defect Gene Set From DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Neural tube defect from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.
Congenital bile acid synthesis defect Gene Set From DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Congenital bile acid synthesis defect from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.
Congenital bile acid synthesis defect 2 Gene Set From DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Congenital bile acid synthesis defect 2 from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia Gene Set From DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.
Neural tube defect Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Neural tube defect in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Heart septal defect Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Heart septal defect in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Ventricular septal defect Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Ventricular septal defect in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Atrial heart septal defect Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Atrial heart septal defect in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Atrioventricular septal defect Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Atrioventricular septal defect in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Congenital bile acid synthesis defect Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Congenital bile acid synthesis defect in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Congenital bile acid synthesis defect 5 Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Congenital bile acid synthesis defect 5 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Atrial heart septal defect 2 Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Atrial heart septal defect 2 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Atrial heart septal defect 1 Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Atrial heart septal defect 1 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Atrial heart septal defect 9 Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Atrial heart septal defect 9 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Atrial heart septal defect 4 Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Atrial heart septal defect 4 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Glycosylphosphatidylinositol biosynthesis defect 16 Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Glycosylphosphatidylinositol biosynthesis defect 16 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Atrial heart septal defect 3 Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Atrial heart septal defect 3 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Atrial heart septal defect 6 Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Atrial heart septal defect 6 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Atrial heart septal defect 5 Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Atrial heart septal defect 5 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Thrombophilia due to thrombin defect Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Thrombophilia due to thrombin defect in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Qualitative platelet defect Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Qualitative platelet defect in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Congenital bile acid synthesis defect 2 Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Congenital bile acid synthesis defect 2 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Congenital bile acid synthesis defect 3 Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Congenital bile acid synthesis defect 3 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Joubert syndrome with orofaciodigital defect Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Joubert syndrome with orofaciodigital defect in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
X-linked thrombophilia due to factor IX defect Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease X-linked thrombophilia due to factor IX defect in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Atrial heart septal defect 8 Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Atrial heart septal defect 8 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Developmental cardiac valvular defect Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Developmental cardiac valvular defect in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Congenital bile acid synthesis defect 1 Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Congenital bile acid synthesis defect 1 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
hypotrichosis-lymphedema-telangiectasia-renal defect syndrome Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease hypotrichosis-lymphedema-telangiectasia-renal defect syndrome in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Thrombophilia due to thrombomodulin defect Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Thrombophilia due to thrombomodulin defect in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Nerve fibre bundle defect Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Nerve fibre bundle defect in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Combined oxidative phosphorylation defect Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Combined oxidative phosphorylation defect phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Thyroglobulin synthesis defect Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Thyroglobulin synthesis defect phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Iodotyrosine deiodination defect Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Iodotyrosine deiodination defect phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Congenital defect of folate absorption Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Congenital defect of folate absorption phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Neutral 1 amino acid transport defect Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Neutral 1 amino acid transport defect phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Congenital bile acid synthesis defect Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Congenital bile acid synthesis defect phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Atrioventricular septal defect Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Atrioventricular septal defect phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Thrombophilia due to thrombin defect Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Thrombophilia due to thrombin defect phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Iris transillumination defect Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Iris transillumination defect phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Hepatoencephalopathy due to combined oxidative phosphorylation defect Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Hepatoencephalopathy due to combined oxidative phosphorylation defect phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Atrial septal defect Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Atrial septal defect phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Fatal mitochondrial disease due to combined oxidative phosphorylation defect Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Fatal mitochondrial disease due to combined oxidative phosphorylation defect phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Renal carnitine transport defect Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Renal carnitine transport defect phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Ventricular septal defect Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Ventricular septal defect phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Glucose-6-phosphate transport defect Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Glucose-6-phosphate transport defect phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Phosphate transport defect Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Phosphate transport defect phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Peroxisome biogenesis disorder due to PEX1 defect Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Peroxisome biogenesis disorder due to PEX1 defect phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Laron- somatotropin defect Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Laron- somatotropin defect phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Color vision defect Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Color vision defect phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Protan defect Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Protan defect phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Iodotyrosyl coupling defect Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Iodotyrosyl coupling defect phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
MPV17-related mitochondrial DNA maintenance defect Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the MPV17-related mitochondrial DNA maintenance defect phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Neural tube defect Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Neural tube defect phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Gastrointestinal defect and immunodeficiency syndrome Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Gastrointestinal defect and immunodeficiency syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Familial atrioventricular septal defect Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Familial atrioventricular septal defect phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Single Ventricle Defect Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Single Ventricle Defect phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Heart defect - tongue hamartoma - polysyndactyly syndrome Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Heart defect - tongue hamartoma - polysyndactyly syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Metabolic myopathy due to lactate transporter defect Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Metabolic myopathy due to lactate transporter defect phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Methylmalonic acidemia due to transcobalamin receptor defect Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Methylmalonic acidemia due to transcobalamin receptor defect phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Sacral defect Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Sacral defect phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Bile acid conjugation defect Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Bile acid conjugation defect phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Ulnar/fibula ray defect-brachydactyly syndrome Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Ulnar/fibula ray defect-brachydactyly syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Immunodeficiency due to defect in CD3-gamma Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Immunodeficiency due to defect in CD3-gamma phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Thyroid Hormonogenesis Defect Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Thyroid Hormonogenesis Defect phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Oocyte maturation defect Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Oocyte maturation defect phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Glycosylphosphatidylinositol biosynthesis defect Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Glycosylphosphatidylinositol biosynthesis defect phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Inherited oocyte maturation defect Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Inherited oocyte maturation defect phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Atrioventricular septal defect and common atrioventricular junction Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Atrioventricular septal defect and common atrioventricular junction phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Progressive retinal dystrophy due to retinol transport defect Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Progressive retinal dystrophy due to retinol transport defect phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Cardiac valvular defect Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Cardiac valvular defect phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Juvenile arthritis due to defect in LA Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Juvenile arthritis due to defect in LA phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Female infertility due to zona pellucida defect Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Female infertility due to zona pellucida defect phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Left ventricular obstructive tract defect (inherited effect) Gene Set From GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Left ventricular obstructive tract defect (inherited effect) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.
Left ventricular obstructive tract defect (maternal effect) Gene Set From GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Left ventricular obstructive tract defect (maternal effect) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Harmonizome 3.0

midline defect of the nose Gene Set

Midline Defect Of The Nose Gene Set

midline defect of mandible Gene Set

Midline group of the dorsal thalamus Gene Set

midline nuclear complex Gene Set

lethal midline granuloma Gene Set

midline Gene Set

cardioblast migration to the midline involved in heart field formation Gene Set

cell migration to the midline involved in heart development Gene Set

ventral midline determination Gene Set

axon midline choice point recognition Gene Set

ventral midline development Gene Set

non-midline cleft lip Gene Set

midline facial capillary hemangioma Gene Set

midline facial cleft Gene Set

midline nasal groove Gene Set

non-midline cleft palate Gene Set

midline skin dimples over anterior/posterior fontanelles Gene Set

midline central nervous system lipomas Gene Set

Granuloma, Lethal Midline Gene Set

Midline-1 Gene Set

midline facial cleft Gene Set

abnormal palatal shelf fusion at midline Gene Set

palatal shelves fail to meet at midline Gene Set

Midline Cervical Cleft Gene Set

Nut Midline Carcinoma Gene Set

Midline Facial Cleft Gene Set

Midline Nasal Groove Gene Set

Non-Midline Cleft Lip Gene Set

Diffuse Midline Glioma, Point Mutation K27M In Histone H3 Gene Set

Facial Midline Hemangioma Gene Set

Midline Central Nervous System Lipomas Gene Set

Midline Facial Capillary Hemangioma Gene Set

Midline Notch Of Upper Alveolar Ridge Gene Set

Midline Skin Dimples Over Anterior/Posterior Fontanelles Gene Set

axon midline choice point recognition Gene Set

ventral midline determination Gene Set

cardioblast migration to the midline involved in heart field formation Gene Set

cell migration to the midline involved in heart development Gene Set

midline facial cleft Gene Set

abnormal palatal shelf fusion at midline Gene Set

palatal shelves fail to meet at midline Gene Set

midline cleft upper lip Gene Set

axon midline choice point recognition Gene Set

ventral midline determination Gene Set

cardioblast migration to the midline involved in heart field formation Gene Set

cell migration to the midline involved in heart development Gene Set

NUT midline carcinoma Gene Set

Diffuse midline glioma, H3 K27M-mutant Gene Set

Lethal midline granuloma Gene Set

Midline cystocele Gene Set

Diffuse midline glioma Gene Set

Midline facial cleft Gene Set

Primary somatosensory area, nose, layer 6b Gene Set

Primary somatosensory area, nose, layer 6a Gene Set

Primary somatosensory area, nose Gene Set

Bifid Nose With Or Without Anorectal And Renal Anomalies Gene Set

Nose Neoplasms Gene Set

Bifid nose Gene Set

nose disease Gene Set

nose disease Gene Set

nose Gene Set

nose morphogenesis Gene Set

nose development Gene Set

nose disease Gene Set

abnormality of the nose Gene Set

aplasia/hypoplasia involving the nose Gene Set

short nose Gene Set

bulbous nose Gene Set

wide nose Gene Set

aplasia of the nose Gene Set

cartilaginous ossification of nose Gene Set

bifid nose Gene Set

pear-shaped nose Gene Set

large beaked nose Gene Set

neoplasm of the nose Gene Set

prominent nose Gene Set

long nose Gene Set

slender nose Gene Set