| Name |
|---|
PKDTS Genepolycystic kidney disease, infantile severe, with tuberous sclerosis |
USH1C GeneUsher syndrome 1C (autosomal recessive, severe) This gene encodes a scaffold protein that functions in the assembly of Usher protein complexes. The protein contains PDZ domains, a coiled-coil region with a bipartite nuclear localization signal and a PEST degradation sequence. Defects in this gene are the cause of Usher syndrome type 1C and non-syndromic sensorineural deafness autosomal recessive type 18. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009] |
USH1E GeneUsher syndrome 1E (autosomal recessive, severe) |
MRST GeneMental retardation, severe, with spasticity and tapetoretinal |
COPD GenePulmonary disease, chronic obstructive, severe early-onset |
severe lactic acidosis Gene SetFrom HPO Gene-Disease Associations genes associated with the severe lactic acidosis phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
Severe Lactic Acidosis Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Severe Lactic Acidosis in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Severe Neonatal Lactic Acidosis Due To Nfs1-Isd11 Complex Deficiency Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Neonatal Lactic Acidosis Due To Nfs1-Isd11 Complex Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Lactic aciduria due to D-lactic acid Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Lactic aciduria due to D-lactic acid phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Myopathy, lactic acidosis, and sideroblastic anemia 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Myopathy, lactic acidosis, and sideroblastic anemia 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Myopathy, lactic acidosis, and sideroblastic anemia 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Myopathy, lactic acidosis, and sideroblastic anemia 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Myopathy with lactic acidosis, hereditary Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Myopathy with lactic acidosis, hereditary phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Acidosis, Lactic Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Acidosis, Lactic from the curated CTD Gene-Disease Associations dataset. |
Myopathy with lactic acidosis and sideroblastic anemia Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Myopathy with lactic acidosis and sideroblastic anemia from the curated CTD Gene-Disease Associations dataset. |
Myopathy with Lactic Acidosis, Hereditary Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Myopathy with Lactic Acidosis, Hereditary from the curated CTD Gene-Disease Associations dataset. |
lactic acidosis Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease lactic acidosis in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
acidosis, lactic Gene SetFrom GAD Gene-Disease Associations genes associated with the disease acidosis, lactic in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
MELAS - Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes_Muscle - Striated (Skeletal) (MMHCC)_GSE1462 Gene SetFrom GEO Signatures of Differentially Expressed Genes for Diseases genes differentially expressed during MELAS - Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes_Muscle - Striated (Skeletal) (MMHCC)_GSE1462 disease perturbation from the GEO Signatures of Differentially Expressed Genes for Diseases dataset. |
chronic lactic acidosis Gene SetFrom HPO Gene-Disease Associations genes associated with the chronic lactic acidosis phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
congenital lactic acidosis Gene SetFrom HPO Gene-Disease Associations genes associated with the congenital lactic acidosis phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
stress/infection-induced lactic acidosis Gene SetFrom HPO Gene-Disease Associations genes associated with the stress/infection-induced lactic acidosis phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
lactic acidosis Gene SetFrom HPO Gene-Disease Associations genes associated with the lactic acidosis phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
Acidosis, Lactic Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Acidosis, Lactic phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
myopathy with lactic acidosis, hereditary Gene SetFrom OMIM Gene-Disease Associations genes associated with the myopathy with lactic acidosis, hereditary phenotype from the curated OMIM Gene-Disease Associations dataset. |
myopathy, lactic acidosis, and sideroblastic anemia 2 Gene SetFrom OMIM Gene-Disease Associations genes associated with the myopathy, lactic acidosis, and sideroblastic anemia 2 phenotype from the curated OMIM Gene-Disease Associations dataset. |
Congenital Lactic Acidosis Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Congenital Lactic Acidosis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Lactic Acidosis Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Lactic Acidosis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Primary Lactic Acidosis Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Primary Lactic Acidosis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Hydrops, Lactic Acidosis, And Sideroblastic Anemia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Hyperglycinemia, Lactic Acidosis, And Seizures Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Hyperglycinemia, Lactic Acidosis, And Seizures in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Mitochondrial Encephalopathy, Lactic Acidosis And Stroke-Like Episodes (Melas Syndrome) Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Mitochondrial Encephalopathy, Lactic Acidosis And Stroke-Like Episodes (Melas Syndrome) in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Stress/Infection-Induced Lactic Acidosis Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Stress/Infection-Induced Lactic Acidosis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Mitochondrial Myopathy With Lactic Acidosis Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Mitochondrial Myopathy With Lactic Acidosis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Acidosis, Lactic Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Acidosis, Lactic in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Chronic Lactic Acidosis Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Chronic Lactic Acidosis in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Persistent Lactic Acidosis Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Persistent Lactic Acidosis in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
lactic acidosis Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the lactic acidosis phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
Lactic acidosis Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Lactic acidosis in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
myopathy, lactic acidosis, and sideroblastic anemia 2 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease myopathy, lactic acidosis, and sideroblastic anemia 2 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
myopathy, lactic acidosis, and sideroblastic anemia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease myopathy, lactic acidosis, and sideroblastic anemia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
myopathy, lactic acidosis, and sideroblastic anemia 1 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease myopathy, lactic acidosis, and sideroblastic anemia 1 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Congenital lactic acidosis Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Congenital lactic acidosis phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Lactic acidosis Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Lactic acidosis phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Cardiomyopathy-hypotonia-lactic acidosis syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Cardiomyopathy-hypotonia-lactic acidosis syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Mitochondrial myopathy-lactic acidosis-deafness syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Mitochondrial myopathy-lactic acidosis-deafness syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Frontonasal Dysplasia, Severe Microphthalmia, Severe Facial Clefting Syndrome Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Frontonasal Dysplasia, Severe Microphthalmia, Severe Facial Clefting Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Erosive tooth wear (severe vs non-severe) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Erosive tooth wear (severe vs non-severe) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Lactic Acid Gene SetFrom CTD Gene-Chemical Interactions genes/proteins interacting with the chemical Lactic Acid from the curated CTD Gene-Chemical Interactions dataset. |
D-Lactic Acid Gene Setinteracting proteins for the D-Lactic Acid drug from the curated DrugBank Drug Targets dataset. |
Lactic Acid Gene Setinteracting proteins for the Lactic Acid drug from the curated DrugBank Drug Targets dataset. |
lactic Gene SetFrom GeneRIF Biological Term Annotations genes co-occuring with the biological term lactic in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset. |
L-lactic acid Gene SetFrom Guide to Pharmacology Chemical Ligands of Receptors receptors of the L-lactic acid ligand (chemical) from the curated Guide to Pharmacology Chemical Ligands of Receptors dataset. |
D-lactic ​acid Gene SetFrom Guide to Pharmacology Chemical Ligands of Receptors receptors of the D-lactic ​acid ligand (chemical) from the curated Guide to Pharmacology Chemical Ligands of Receptors dataset. |
L-Lactic acid Gene SetFrom HMDB Metabolites of Enzymes interacting proteins for the L-Lactic acid metabolite from the curated HMDB Metabolites of Enzymes dataset. |
D-Lactic acid Gene SetFrom HMDB Metabolites of Enzymes interacting proteins for the D-Lactic acid metabolite from the curated HMDB Metabolites of Enzymes dataset. |
exercise-induced lactic acidemia Gene SetFrom HPO Gene-Disease Associations genes associated with the exercise-induced lactic acidemia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
intermittent lactic acidemia Gene SetFrom HPO Gene-Disease Associations genes associated with the intermittent lactic acidemia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
Exercise-Induced Lactic Acidemia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Exercise-Induced Lactic Acidemia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Intermittent Lactic Acidemia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Intermittent Lactic Acidemia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Lactic Aciduria Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Lactic Aciduria in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Lactic Acidemia Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Lactic Acidemia in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Lactic Aciduria Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Lactic Aciduria in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Lactic Acid Measurement Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Lactic Acid Measurement in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Lactic acid Gene SetFrom MW Enzyme Metabolite Associations interacting proteins for Lactic acid metabolite from the MW Gene Metabolite Associations dataset. |
D-LACTIC ACID Gene Setinteracting proteins for the D-LACTIC ACID drug from theDGIdb Drug Targets 2026 dataset. |
L-LACTIC ACID Gene Setinteracting proteins for the L-LACTIC ACID drug from theDGIdb Drug Targets 2026 dataset. |
Osteopetrosis with renal tubular acidosis Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Osteopetrosis with renal tubular acidosis phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Renal tubular acidosis, distal, autosomal recessive, with late-onset sensorineural hearing loss Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Renal tubular acidosis, distal, autosomal recessive, with late-onset sensorineural hearing loss phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Renal tubular acidosis, distal, autosomal dominant Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Renal tubular acidosis, distal, autosomal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Renal tubular acidosis, distal, autosomal recessive Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Renal tubular acidosis, distal, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Renal tubular acidosis, distal, with normal red cell morphology Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Renal tubular acidosis, distal, with normal red cell morphology phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Renal tubular acidosis, distal, with hemolytic anemia Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Renal tubular acidosis, distal, with hemolytic anemia phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Renal tubular acidosis, proximal, with ocular abnormalities and mental retardation Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Renal tubular acidosis, proximal, with ocular abnormalities and mental retardation phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Renal tubular acidosis with progressive nerve deafness Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Renal tubular acidosis with progressive nerve deafness phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Acidosis, Renal Tubular Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Acidosis, Renal Tubular from the curated CTD Gene-Disease Associations dataset. |
Renal Tubular Acidosis, Distal, With Hemolytic Anemia Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Renal Tubular Acidosis, Distal, With Hemolytic Anemia from the curated CTD Gene-Disease Associations dataset. |
Osteopetrosis with renal tubular acidosis Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Osteopetrosis with renal tubular acidosis from the curated CTD Gene-Disease Associations dataset. |
Renal tubular acidosis, distal, autosomal recessive Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Renal tubular acidosis, distal, autosomal recessive from the curated CTD Gene-Disease Associations dataset. |
Renal Tubular Acidosis, Distal, with Progressive Nerve Deafness Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Renal Tubular Acidosis, Distal, with Progressive Nerve Deafness from the curated CTD Gene-Disease Associations dataset. |
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation from the curated CTD Gene-Disease Associations dataset. |
Acidosis Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Acidosis from the curated CTD Gene-Disease Associations dataset. |
Acidosis, Respiratory Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Acidosis, Respiratory from the curated CTD Gene-Disease Associations dataset. |
renal tubular acidosis Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease renal tubular acidosis in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
metabolic acidosis Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease metabolic acidosis in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
familial distal renal tubular acidosis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease familial distal renal tubular acidosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
acidosis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease acidosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
acidosis Gene SetFrom GeneRIF Biological Term Annotations genes co-occuring with the biological term acidosis in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset. |
respiratory acidosis Gene SetFrom HPO Gene-Disease Associations genes associated with the respiratory acidosis phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
proximal renal tubular acidosis Gene SetFrom HPO Gene-Disease Associations genes associated with the proximal renal tubular acidosis phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
mixed respiratory and metabolic acidosis Gene SetFrom HPO Gene-Disease Associations genes associated with the mixed respiratory and metabolic acidosis phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
hyperkalemic metabolic acidosis Gene SetFrom HPO Gene-Disease Associations genes associated with the hyperkalemic metabolic acidosis phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
chronic metabolic acidosis Gene SetFrom HPO Gene-Disease Associations genes associated with the chronic metabolic acidosis phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
acidosis Gene SetFrom HPO Gene-Disease Associations genes associated with the acidosis phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
renal tubular acidosis Gene SetFrom HPO Gene-Disease Associations genes associated with the renal tubular acidosis phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
metabolic acidosis Gene SetFrom HPO Gene-Disease Associations genes associated with the metabolic acidosis phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
chronic acidosis Gene SetFrom HPO Gene-Disease Associations genes associated with the chronic acidosis phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
generalized distal tubular acidosis Gene SetFrom HPO Gene-Disease Associations genes associated with the generalized distal tubular acidosis phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
distal renal tubular acidosis Gene SetFrom HPO Gene-Disease Associations genes associated with the distal renal tubular acidosis phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
hyperchloremic acidosis Gene SetFrom HPO Gene-Disease Associations genes associated with the hyperchloremic acidosis phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
episodic metabolic acidosis Gene SetFrom HPO Gene-Disease Associations genes associated with the episodic metabolic acidosis phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
hyperchloremic metabolic acidosis Gene SetFrom HPO Gene-Disease Associations genes associated with the hyperchloremic metabolic acidosis phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
bicarbonate-wasting renal tubular acidosis Gene SetFrom HPO Gene-Disease Associations genes associated with the bicarbonate-wasting renal tubular acidosis phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
Acidosis, Renal Tubular Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Acidosis, Renal Tubular phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
Acidosis Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Acidosis phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
renal tubular acidosis Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the renal tubular acidosis phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
acidosis Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the acidosis phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
osteopetrosis, autosomal recessive 3, with renal tubular acidosis Gene SetFrom OMIM Gene-Disease Associations genes associated with the osteopetrosis, autosomal recessive 3, with renal tubular acidosis phenotype from the curated OMIM Gene-Disease Associations dataset. |
renal tubular acidosis, distal, ar Gene SetFrom OMIM Gene-Disease Associations genes associated with the renal tubular acidosis, distal, ar phenotype from the curated OMIM Gene-Disease Associations dataset. |
renal tubular acidosis, distal, ad Gene SetFrom OMIM Gene-Disease Associations genes associated with the renal tubular acidosis, distal, ad phenotype from the curated OMIM Gene-Disease Associations dataset. |
renal tubular acidosis, distal, autosomal recessive Gene SetFrom OMIM Gene-Disease Associations genes associated with the renal tubular acidosis, distal, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset. |
renal tubular acidosis, proximal, with ocular abnormalities Gene SetFrom OMIM Gene-Disease Associations genes associated with the renal tubular acidosis, proximal, with ocular abnormalities phenotype from the curated OMIM Gene-Disease Associations dataset. |
renal tubular acidosis with deafness Gene SetFrom OMIM Gene-Disease Associations genes associated with the renal tubular acidosis with deafness phenotype from the curated OMIM Gene-Disease Associations dataset. |
Fetal Acidosis Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Fetal Acidosis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Distal Renal Tubular Acidosis Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Distal Renal Tubular Acidosis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Renal Tubular Acidosis Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Renal Tubular Acidosis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Compensated Acidosis Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Compensated Acidosis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Transient Neonatal Renal Tubular Acidosis Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Transient Neonatal Renal Tubular Acidosis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Generalized Distal Tubular Acidosis Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Generalized Distal Tubular Acidosis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Chronic Metabolic Acidosis Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Chronic Metabolic Acidosis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Metabolic Acidosis, Nag, Acidifying Salts Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Metabolic Acidosis, Nag, Acidifying Salts in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Hyperkalemic Distal Renal Tubular Acidosis Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Hyperkalemic Distal Renal Tubular Acidosis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Mixed Respiratory And Metabolic Acidosis Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Mixed Respiratory And Metabolic Acidosis in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Metabolic Acidosis Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Metabolic Acidosis in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Episodic Metabolic Acidosis Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Episodic Metabolic Acidosis in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Acidosis Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Acidosis in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Acidosis, Respiratory Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Acidosis, Respiratory in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Renal Tubular Acidosis Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Renal Tubular Acidosis in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Distal Renal Tubular Acidosis Co-Occurrent With Sensorineural Deafness Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Distal Renal Tubular Acidosis Co-Occurrent With Sensorineural Deafness in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Hyperchloremic Metabolic Acidosis Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Hyperchloremic Metabolic Acidosis in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Hyperkalemic Metabolic Acidosis Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Hyperkalemic Metabolic Acidosis in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Chronic Acidosis Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Chronic Acidosis in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Bicarbonate-Wasting Renal Tubular Acidosis Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Bicarbonate-Wasting Renal Tubular Acidosis in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
renal tubular acidosis Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the renal tubular acidosis phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
respiratory acidosis Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the respiratory acidosis phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
metabolic acidosis Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the metabolic acidosis phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
acidosis Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the acidosis phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
Defective SLC4A1 causes hereditary spherocytosis type 4 (HSP4), distal renal tubular acidosis (dRTA) and dRTA with hemolytic anemia (dRTA-HA) Gene Setproteins participating in the Defective SLC4A1 causes hereditary spherocytosis type 4 (HSP4), distal renal tubular acidosis (dRTA) and dRTA with hemolytic anemia (dRTA-HA) pathway from the Reactome Pathways 2024 dataset. |
Defective SLC4A4 causes renal tubular acidosis, proximal, with ocular abnormalities and mental retardation (pRTA-OA) Gene Setproteins participating in the Defective SLC4A4 causes renal tubular acidosis, proximal, with ocular abnormalities and mental retardation (pRTA-OA) pathway from the Reactome Pathways 2024 dataset. |
Metabolic acidosis Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Metabolic acidosis in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Renal tubular acidosis Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Renal tubular acidosis in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Autosomal recessive distal renal tubular acidosis Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Autosomal recessive distal renal tubular acidosis phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Renal tubular acidosis Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Renal tubular acidosis phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Distal renal tubular acidosis Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Distal renal tubular acidosis phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Autosomal dominant distal renal tubular acidosis Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Autosomal dominant distal renal tubular acidosis phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Autosomal recessive proximal renal tubular acidosis Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Autosomal recessive proximal renal tubular acidosis phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
X-linked severe combined immunodeficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the X-linked severe combined immunodeficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Myopathy, reducing body, X-linked, early-onset, severe Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Myopathy, reducing body, X-linked, early-onset, severe phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Severe combined immunodeficiency due to ADA deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Severe combined immunodeficiency due to ADA deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hypertelorism, severe, with midface prominence, myopia, mental retardation, and bone fragility Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hypertelorism, severe, with midface prominence, myopia, mental retardation, and bone fragility phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Immunodeficiency 18, severe combined immunodeficiency variant Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Immunodeficiency 18, severe combined immunodeficiency variant phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hyperparathyroidism, neonatal severe Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hyperparathyroidism, neonatal severe phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Severe congenital neutropenia Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Severe congenital neutropenia phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Severe autosomal recessive muscular dystrophy of childhood - North African type Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Severe autosomal recessive muscular dystrophy of childhood - North African type phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Severe congenital neutropenia 3, autosomal recessive Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Severe congenital neutropenia 3, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Severe congenital neutropenia X-linked Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Severe congenital neutropenia X-linked phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Ulna and fibula absence of with severe limb deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Ulna and fibula absence of with severe limb deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Severe X-linked myotubular myopathy Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Severe X-linked myotubular myopathy phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Severe congenital neutropenia 6, autosomal recessive Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Severe congenital neutropenia 6, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Severe combined immunodeficiency, atypical Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Severe combined immunodeficiency, atypical phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE I, SEVERE Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE I, SEVERE phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
MUCOPOLYSACCHARIDOSIS, TYPE VI, SEVERE Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the MUCOPOLYSACCHARIDOSIS, TYPE VI, SEVERE phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Severe combined immunodeficiency disease Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Severe combined immunodeficiency disease phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Severe combined immunodeficiency with sensitivity to ionizing radiation Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Severe combined immunodeficiency with sensitivity to ionizing radiation phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Severe congenital neutropenia autosomal dominant Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Severe congenital neutropenia autosomal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Severe congenital neutropenia 2, autosomal dominant Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Severe congenital neutropenia 2, autosomal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Severe congenital neutropenia 4, autosomal recessive Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Severe congenital neutropenia 4, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Severe myoclonic epilepsy in infancy Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Severe myoclonic epilepsy in infancy phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Retinal dystrophy, early-onset severe Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Retinal dystrophy, early-onset severe phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Obesity, severe, due to leptin deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Obesity, severe, due to leptin deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC, SEVERE Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC, SEVERE phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Sialic acid storage disease, severe infantile type Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Sialic acid storage disease, severe infantile type phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, NK Cell-Negative Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, NK Cell-Negative from the curated CTD Gene-Disease Associations dataset. |
Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation from the curated CTD Gene-Disease Associations dataset. |
Hyperparathyroidism, Neonatal Severe Primary Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Hyperparathyroidism, Neonatal Severe Primary from the curated CTD Gene-Disease Associations dataset. |
Severe Combined Immunodeficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Severe Combined Immunodeficiency from the curated CTD Gene-Disease Associations dataset. |
Severe Dengue Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Severe Dengue from the curated CTD Gene-Disease Associations dataset. |
Abnormalities, Severe Teratoid Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Abnormalities, Severe Teratoid from the curated CTD Gene-Disease Associations dataset. |
Neutropenia, Severe Congenital, Autosomal Dominant 2 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Neutropenia, Severe Congenital, Autosomal Dominant 2 from the curated CTD Gene-Disease Associations dataset. |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, NK Cell-Positive Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, NK Cell-Positive from the curated CTD Gene-Disease Associations dataset. |
Severe combined immunodeficiency due to adenosine deaminase deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Severe combined immunodeficiency due to adenosine deaminase deficiency from the curated CTD Gene-Disease Associations dataset. |
Severe Acute Respiratory Syndrome Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Severe Acute Respiratory Syndrome from the curated CTD Gene-Disease Associations dataset. |
Hypertension, Early-Onset, Autosomal Dominant, with Severe Exacerbation in Pregnancy Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Hypertension, Early-Onset, Autosomal Dominant, with Severe Exacerbation in Pregnancy from the curated CTD Gene-Disease Associations dataset. |
Neutropenia, Severe Congenital, Autosomal Dominant 1 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Neutropenia, Severe Congenital, Autosomal Dominant 1 from the curated CTD Gene-Disease Associations dataset. |
HEPATIC FIBROSIS, SEVERE, SUSCEPTIBILITY TO, DUE TO SCHISTOSOMA MANSONI INFECTION Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease HEPATIC FIBROSIS, SEVERE, SUSCEPTIBILITY TO, DUE TO SCHISTOSOMA MANSONI INFECTION from the curated CTD Gene-Disease Associations dataset. |
Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations from the curated CTD Gene-Disease Associations dataset. |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell Negative, B Cell Positive, NK Cell Positive Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Severe Combined Immunodeficiency, Autosomal Recessive, T Cell Negative, B Cell Positive, NK Cell Positive from the curated CTD Gene-Disease Associations dataset. |
Severe combined immunodeficiency with sensitivity to ionizing radiation Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Severe combined immunodeficiency with sensitivity to ionizing radiation from the curated CTD Gene-Disease Associations dataset. |
Neutropenia, Severe Congenital, X-Linked Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Neutropenia, Severe Congenital, X-Linked from the curated CTD Gene-Disease Associations dataset. |
Cutis Laxa With Severe Pulmonary, Gastrointestinal, And Urinary Abnormalities Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Cutis Laxa With Severe Pulmonary, Gastrointestinal, And Urinary Abnormalities from the curated CTD Gene-Disease Associations dataset. |
Alpha/Beta T-Cell Lymphopenia with Gamma/Delta T-Cell Expansion, Severe Cytomegalovirus Infection, and Autoimmunity Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Alpha/Beta T-Cell Lymphopenia with Gamma/Delta T-Cell Expansion, Severe Cytomegalovirus Infection, and Autoimmunity from the curated CTD Gene-Disease Associations dataset. |
Mental Retardation, Severe, With Spasticity And Pigmentary Tapetoretinal Degeneration Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Mental Retardation, Severe, With Spasticity And Pigmentary Tapetoretinal Degeneration from the curated CTD Gene-Disease Associations dataset. |
Polycystic kidneys, severe infantile with tuberous sclerosis Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Polycystic kidneys, severe infantile with tuberous sclerosis from the curated CTD Gene-Disease Associations dataset. |
Myopathy, Reducing Body, X-Linked, Early-Onset, Severe Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Myopathy, Reducing Body, X-Linked, Early-Onset, Severe from the curated CTD Gene-Disease Associations dataset. |
Neutropenia, Severe Congenital, Autosomal Recessive 3 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Neutropenia, Severe Congenital, Autosomal Recessive 3 from the curated CTD Gene-Disease Associations dataset. |
Neutropenia, Severe Congenital, Autosomal Recessive 4 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Neutropenia, Severe Congenital, Autosomal Recessive 4 from the curated CTD Gene-Disease Associations dataset. |
severe combined immunodeficiency Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease severe combined immunodeficiency from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
severe congenital neutropenia Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease severe congenital neutropenia from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
severe acute respiratory syndrome Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease severe acute respiratory syndrome in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
severe congenital neutropenia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease severe congenital neutropenia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
severe nonproliferative diabetic retinopathy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease severe nonproliferative diabetic retinopathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
severe combined immunodeficiency Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease severe combined immunodeficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
severe pre-eclampsia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease severe pre-eclampsia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
severe type iii hyperlipoproteinemia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease severe type iii hyperlipoproteinemia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
hyper-ige syndrome and severe eczema. atopy Gene SetFrom GAD Gene-Disease Associations genes associated with the disease hyper-ige syndrome and severe eczema. atopy in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
severe acute respiratory syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease severe acute respiratory syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
severe trauma. mortality Gene SetFrom GAD Gene-Disease Associations genes associated with the disease severe trauma. mortality in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
severe childhood thrombosis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease severe childhood thrombosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
sars (severe acute respiratory syndrome) Gene SetFrom GAD Gene-Disease Associations genes associated with the disease sars (severe acute respiratory syndrome) in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
hyper-ige syndrome. severe eczema. atopy Gene SetFrom GAD Gene-Disease Associations genes associated with the disease hyper-ige syndrome. severe eczema. atopy in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
severe desmoid phenotype Gene SetFrom GAD Gene-Disease Associations genes associated with the disease severe desmoid phenotype in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
mild and severe substance abuse Gene SetFrom GAD Gene-Disease Associations genes associated with the disease mild and severe substance abuse in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
severe malaria Gene SetFrom GAD Gene-Disease Associations genes associated with the disease severe malaria in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
communicable diseases; severe acute respiratory syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease communicable diseases; severe acute respiratory syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
anoxemia; anoxia; pneumonia, viral; severe acute respiratory syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease anoxemia; anoxia; pneumonia, viral; severe acute respiratory syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
severe acute radiotherapy side effects Gene SetFrom GAD Gene-Disease Associations genes associated with the disease severe acute radiotherapy side effects in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
severe hyperkinetic disorders Gene SetFrom GAD Gene-Disease Associations genes associated with the disease severe hyperkinetic disorders in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
severe sepsis in blunt trauma Gene SetFrom GAD Gene-Disease Associations genes associated with the disease severe sepsis in blunt trauma in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
adult respiratory distress syndrome; respiratory distress syndrome, adult; severe acute respiratory syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease adult respiratory distress syndrome; respiratory distress syndrome, adult; severe acute respiratory syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
lymphopenia; scid; severe combined immunodeficiency Gene SetFrom GAD Gene-Disease Associations genes associated with the disease lymphopenia; scid; severe combined immunodeficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
severe ulcerative colitis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease severe ulcerative colitis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
severe sepsis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease severe sepsis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
bone necrosis; osteonecrosis; severe acute respiratory syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease bone necrosis; osteonecrosis; severe acute respiratory syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
severe chronic neutropenia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease severe chronic neutropenia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
x-linked severe combined immunodeficiency Gene SetFrom GAD Gene-Disease Associations genes associated with the disease x-linked severe combined immunodeficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
severe rsv bronchiolitis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease severe rsv bronchiolitis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
outcome after severe injury Gene SetFrom GAD Gene-Disease Associations genes associated with the disease outcome after severe injury in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
femur head necrosis; pulmonary fibrosis; severe acute respiratory syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease femur head necrosis; pulmonary fibrosis; severe acute respiratory syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
severe sepsis after trauma Gene SetFrom GAD Gene-Disease Associations genes associated with the disease severe sepsis after trauma in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
immunologic deficiency syndromes; severe combined immunodeficiency Gene SetFrom GAD Gene-Disease Associations genes associated with the disease immunologic deficiency syndromes; severe combined immunodeficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
severe photoaging of facial skin Gene SetFrom GAD Gene-Disease Associations genes associated with the disease severe photoaging of facial skin in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
severe Gene SetFrom GeneRIF Biological Term Annotations genes co-occuring with the biological term severe in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset. |
Severe acute respiratory syndrome (SARS)_Peripheral blood mononuclear cell_GSE1739 Gene SetFrom GEO Signatures of Differentially Expressed Genes for Diseases genes differentially expressed during Severe acute respiratory syndrome (SARS)_Peripheral blood mononuclear cell_GSE1739 disease perturbation from the GEO Signatures of Differentially Expressed Genes for Diseases dataset. |
SCID - Severe combined immunodeficiency_Lung Tissue_GSE3414 Gene SetFrom GEO Signatures of Differentially Expressed Genes for Diseases genes differentially expressed during SCID - Severe combined immunodeficiency_Lung Tissue_GSE3414 disease perturbation from the GEO Signatures of Differentially Expressed Genes for Diseases dataset. |
Treatment response for severe sepsis Gene SetFrom GWAS Catalog SNP-Phenotype Associations genes associated with the Treatment response for severe sepsis phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset. |
Acne (severe) Gene SetFrom GWAS Catalog SNP-Phenotype Associations genes associated with the Acne (severe) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset. |
Chronic obstructive pulmonary disease (severe) Gene SetFrom GWAS Catalog SNP-Phenotype Associations genes associated with the Chronic obstructive pulmonary disease (severe) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset. |
Myopia (severe) Gene SetFrom GWAS Catalog SNP-Phenotype Associations genes associated with the Myopia (severe) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset. |
Chronic obstructive pulmonary disease (moderate to severe) Gene SetFrom GWAS Catalog SNP-Phenotype Associations genes associated with the Chronic obstructive pulmonary disease (moderate to severe) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset. |
Asthma (childhood, severe) Gene SetFrom GWAS Catalog SNP-Phenotype Associations genes associated with the Asthma (childhood, severe) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset. |
severe osteoporosis Gene SetFrom HPO Gene-Disease Associations genes associated with the severe osteoporosis phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
severe platyspondyly Gene SetFrom HPO Gene-Disease Associations genes associated with the severe platyspondyly phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
severe photosensitivity Gene SetFrom HPO Gene-Disease Associations genes associated with the severe photosensitivity phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
severe hydrops fetalis Gene SetFrom HPO Gene-Disease Associations genes associated with the severe hydrops fetalis phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
severe carpal ossification delay Gene SetFrom HPO Gene-Disease Associations genes associated with the severe carpal ossification delay phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
severe t-cell immunodeficiency Gene SetFrom HPO Gene-Disease Associations genes associated with the severe t-cell immunodeficiency phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
severe combined immunodeficiency Gene SetFrom HPO Gene-Disease Associations genes associated with the severe combined immunodeficiency phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
severe recurrent varicella Gene SetFrom HPO Gene-Disease Associations genes associated with the severe recurrent varicella phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
severe visual impairment Gene SetFrom HPO Gene-Disease Associations genes associated with the severe visual impairment phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
intellectual disability, severe Gene SetFrom HPO Gene-Disease Associations genes associated with the intellectual disability, severe phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
severe hydrocephalus Gene SetFrom HPO Gene-Disease Associations genes associated with the severe hydrocephalus phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
severe failure to thrive Gene SetFrom HPO Gene-Disease Associations genes associated with the severe failure to thrive phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
severe b lymphocytopenia Gene SetFrom HPO Gene-Disease Associations genes associated with the severe b lymphocytopenia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
severe intrauterine growth retardation Gene SetFrom HPO Gene-Disease Associations genes associated with the severe intrauterine growth retardation phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
severe short-limb dwarfism Gene SetFrom HPO Gene-Disease Associations genes associated with the severe short-limb dwarfism phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
severe hearing impairment Gene SetFrom HPO Gene-Disease Associations genes associated with the severe hearing impairment phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
severe muscular hypotonia Gene SetFrom HPO Gene-Disease Associations genes associated with the severe muscular hypotonia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
severe demyelination of the white matter Gene SetFrom HPO Gene-Disease Associations genes associated with the severe demyelination of the white matter phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
severe sensorineural hearing impairment Gene SetFrom HPO Gene-Disease Associations genes associated with the severe sensorineural hearing impairment phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
severe t lymphocytopenia Gene SetFrom HPO Gene-Disease Associations genes associated with the severe t lymphocytopenia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
severe myopia Gene SetFrom HPO Gene-Disease Associations genes associated with the severe myopia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
severe limb shortening Gene SetFrom HPO Gene-Disease Associations genes associated with the severe limb shortening phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
severe short stature Gene SetFrom HPO Gene-Disease Associations genes associated with the severe short stature phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
severe periodontitis Gene SetFrom HPO Gene-Disease Associations genes associated with the severe periodontitis phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
severe postnatal growth retardation Gene SetFrom HPO Gene-Disease Associations genes associated with the severe postnatal growth retardation phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
severe global developmental delay Gene SetFrom HPO Gene-Disease Associations genes associated with the severe global developmental delay phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
Severe Acute Respiratory Syndrome Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Severe Acute Respiratory Syndrome phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
Severe Combined Immunodeficiency Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Severe Combined Immunodeficiency phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
mental retardation, severe, with spasticity and tapetoretinal degeneration Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, severe, with spasticity and tapetoretinal degeneration phenotype from the curated OMIM Gene-Disease Associations dataset. |
severe combined immunodeficiency due to il2 deficiency Gene SetFrom OMIM Gene-Disease Associations genes associated with the severe combined immunodeficiency due to il2 deficiency phenotype from the curated OMIM Gene-Disease Associations dataset. |
retinal dystrophy, early-onset severe Gene SetFrom OMIM Gene-Disease Associations genes associated with the retinal dystrophy, early-onset severe phenotype from the curated OMIM Gene-Disease Associations dataset. |
ulna and fibula, absence of, with severe limb deficiency Gene SetFrom OMIM Gene-Disease Associations genes associated with the ulna and fibula, absence of, with severe limb deficiency phenotype from the curated OMIM Gene-Disease Associations dataset. |
insulin resistance, severe, digenic Gene SetFrom OMIM Gene-Disease Associations genes associated with the insulin resistance, severe, digenic phenotype from the curated OMIM Gene-Disease Associations dataset. |
neutropenia, severe congenital 1, autosomal dominant Gene SetFrom OMIM Gene-Disease Associations genes associated with the neutropenia, severe congenital 1, autosomal dominant phenotype from the curated OMIM Gene-Disease Associations dataset. |
{obesity, severe, susceptibility to, bmiq9} Gene SetFrom OMIM Gene-Disease Associations genes associated with the {obesity, severe, susceptibility to, bmiq9} phenotype from the curated OMIM Gene-Disease Associations dataset. |
neutropenia, severe congenital 3, autosomal recessive Gene SetFrom OMIM Gene-Disease Associations genes associated with the neutropenia, severe congenital 3, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset. |
severe combined immunodeficiency, t cell-negative, b-cell/natural killer-cell positive Gene SetFrom OMIM Gene-Disease Associations genes associated with the severe combined immunodeficiency, t cell-negative, b-cell/natural killer-cell positive phenotype from the curated OMIM Gene-Disease Associations dataset. |
severe combined immunodeficiency due to ada deficiency Gene SetFrom OMIM Gene-Disease Associations genes associated with the severe combined immunodeficiency due to ada deficiency phenotype from the curated OMIM Gene-Disease Associations dataset. |
neutropenia, severe congenital, x-linked Gene SetFrom OMIM Gene-Disease Associations genes associated with the neutropenia, severe congenital, x-linked phenotype from the curated OMIM Gene-Disease Associations dataset. |
neutropenia, severe congenital, 6, autosomal recessive Gene SetFrom OMIM Gene-Disease Associations genes associated with the neutropenia, severe congenital, 6, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset. |
encephalopathy, neonatal severe Gene SetFrom OMIM Gene-Disease Associations genes associated with the encephalopathy, neonatal severe phenotype from the curated OMIM Gene-Disease Associations dataset. |
{obesity, severe, and type ii diabetes} Gene SetFrom OMIM Gene-Disease Associations genes associated with the {obesity, severe, and type ii diabetes} phenotype from the curated OMIM Gene-Disease Associations dataset. |
neutropenia, severe congenital, 5, autosomal recessive Gene SetFrom OMIM Gene-Disease Associations genes associated with the neutropenia, severe congenital, 5, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset. |
obesity, severe Gene SetFrom OMIM Gene-Disease Associations genes associated with the obesity, severe phenotype from the curated OMIM Gene-Disease Associations dataset. |
severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation Gene SetFrom OMIM Gene-Disease Associations genes associated with the severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation phenotype from the curated OMIM Gene-Disease Associations dataset. |
{influenza, severe, susceptibility to} Gene SetFrom OMIM Gene-Disease Associations genes associated with the {influenza, severe, susceptibility to} phenotype from the curated OMIM Gene-Disease Associations dataset. |
severe combined immunodeficiency, b cell-negative Gene SetFrom OMIM Gene-Disease Associations genes associated with the severe combined immunodeficiency, b cell-negative phenotype from the curated OMIM Gene-Disease Associations dataset. |
severe combined immunodeficiency, athabascan type Gene SetFrom OMIM Gene-Disease Associations genes associated with the severe combined immunodeficiency, athabascan type phenotype from the curated OMIM Gene-Disease Associations dataset. |
polycystic kidney disease, infantile severe, with tuberous sclerosis Gene SetFrom OMIM Gene-Disease Associations genes associated with the polycystic kidney disease, infantile severe, with tuberous sclerosis phenotype from the curated OMIM Gene-Disease Associations dataset. |
neutropenia, severe congenital 4, autosomal recessive Gene SetFrom OMIM Gene-Disease Associations genes associated with the neutropenia, severe congenital 4, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset. |
pulmonary disease, chronic obstructive, severe early-onset Gene SetFrom OMIM Gene-Disease Associations genes associated with the pulmonary disease, chronic obstructive, severe early-onset phenotype from the curated OMIM Gene-Disease Associations dataset. |
alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity Gene SetFrom OMIM Gene-Disease Associations genes associated with the alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity phenotype from the curated OMIM Gene-Disease Associations dataset. |
severe combined immunodeficiency, t-cell negative, b-cell/natural killer cell-positive type Gene SetFrom OMIM Gene-Disease Associations genes associated with the severe combined immunodeficiency, t-cell negative, b-cell/natural killer cell-positive type phenotype from the curated OMIM Gene-Disease Associations dataset. |
{malaria, severe, susceptibility to} Gene SetFrom OMIM Gene-Disease Associations genes associated with the {malaria, severe, susceptibility to} phenotype from the curated OMIM Gene-Disease Associations dataset. |
{malaria, severe, resistance to} Gene SetFrom OMIM Gene-Disease Associations genes associated with the {malaria, severe, resistance to} phenotype from the curated OMIM Gene-Disease Associations dataset. |
myopathy, reducing body, x-linked, severe early-onset Gene SetFrom OMIM Gene-Disease Associations genes associated with the myopathy, reducing body, x-linked, severe early-onset phenotype from the curated OMIM Gene-Disease Associations dataset. |
severe combined immunodeficiency, x-linked Gene SetFrom OMIM Gene-Disease Associations genes associated with the severe combined immunodeficiency, x-linked phenotype from the curated OMIM Gene-Disease Associations dataset. |
neutropenia, severe congenital 2, autosomal dominant Gene SetFrom OMIM Gene-Disease Associations genes associated with the neutropenia, severe congenital 2, autosomal dominant phenotype from the curated OMIM Gene-Disease Associations dataset. |
Severe Acute Respiratory Syndrome Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Acute Respiratory Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Visual Impairment Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Visual Impairment in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Mental Disorders, Severe Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Mental Disorders, Severe in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Combined Immunodeficiency Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Combined Immunodeficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Hypoglycaemia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Hypoglycaemia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Intellectual Disability Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Intellectual Disability in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Epstein Barr Virus Infection Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Epstein Barr Virus Infection in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Hereditary Factor Viii Deficiency Disease Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Hereditary Factor Viii Deficiency Disease in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Sepsis Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Sepsis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Sensorineural Hearing Impairment Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Sensorineural Hearing Impairment in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Myopia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Myopia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Infantile Severe Myoclonic Epilepsy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Infantile Severe Myoclonic Epilepsy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Dementia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Dementia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Hypoxic Ischemic Encephalopathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Hypoxic Ischemic Encephalopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Dengue Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Dengue in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Depression Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Depression in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Chronic Obstructive Pulmonary Disease Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Chronic Obstructive Pulmonary Disease in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Periodontitis Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Periodontitis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Autism, Severe Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Autism, Severe in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Acute Malnutrition Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Acute Malnutrition in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Aplastic Anemia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Aplastic Anemia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Intellectual Disability And Progressive Spastic Paraplegia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Intellectual Disability And Progressive Spastic Paraplegia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Congenital Microcephaly Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Congenital Microcephaly in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Expressive Language Delay Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Expressive Language Delay in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Mucopolysaccharidosis, Type Vi, Severe Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Mucopolysaccharidosis, Type Vi, Severe in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Malnutrition Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Malnutrition in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Nonproliferative Diabetic Retinopathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Nonproliferative Diabetic Retinopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Alpha Thalassemia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Alpha Thalassemia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Autosomal Recessive Muscular Dystrophy Of Childhood - North African Type (Disorder) Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Autosomal Recessive Muscular Dystrophy Of Childhood - North African Type (Disorder) in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Fever With Thrombocytopenia Syndrome Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Fever With Thrombocytopenia Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Alcohol Dependence Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Alcohol Dependence in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Bronchopulmonary Dysplasia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Bronchopulmonary Dysplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Persistent Asthma Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Persistent Asthma in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Acute Respiratory Infection Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Acute Respiratory Infection in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Asthma With Fungal Sensitisation Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Asthma With Fungal Sensitisation in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Generalized Recessive Dystrophic Epidermolysis Bullosa Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Generalized Recessive Dystrophic Epidermolysis Bullosa in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Acute Severe Refractory Exacerbation Of Asthma Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Acute Severe Refractory Exacerbation Of Asthma in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Granulocytopenia Severe Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Granulocytopenia Severe in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Beta Thalassemia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Beta Thalassemia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Pediatric Obstructive Sleep Apnea Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Pediatric Obstructive Sleep Apnea in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Varicella, Severe Recurrent Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Varicella, Severe Recurrent in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Major Depression With Psychotic Features Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Major Depression With Psychotic Features in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Athabaskan Severe Combined Immunodeficiency Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Athabaskan Severe Combined Immunodeficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Recurrent Major Depression Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Recurrent Major Depression in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Childhood Autosomal Recessive Muscular Dystrophy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Childhood Autosomal Recessive Muscular Dystrophy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe [Duchenne] Muscular Dystrophy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe [Duchenne] Muscular Dystrophy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Dermatitis, Multiple Allergies, Metabolic Wasting Syndrome Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Dermatitis, Multiple Allergies, Metabolic Wasting Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Hypothyroidism Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Hypothyroidism in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Receptive Language Delay Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Receptive Language Delay in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Reaction To Severe Stress, And Adjustment Disorders Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Reaction To Severe Stress, And Adjustment Disorders in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Copd, Severe Early-Onset Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Copd, Severe Early-Onset in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Short-Limb Dwarfism Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Short-Limb Dwarfism in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe T-Cell Immunodeficiency Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe T-Cell Immunodeficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Galactose Epimerase Deficiency, Severe Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Galactose Epimerase Deficiency, Severe in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Greig Cephalopolysyndactyly Syndrome, Severe Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Greig Cephalopolysyndactyly Syndrome, Severe in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Dehydration Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Dehydration in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Left Ventricular Systolic Dysfunction Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Left Ventricular Systolic Dysfunction in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Costello Syndrome, Severe Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Costello Syndrome, Severe in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Hunter'S Syndrome, Severe Form Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Hunter'S Syndrome, Severe Form in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Growth Restriction, Severe, With Distinctive Facies Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Growth Restriction, Severe, With Distinctive Facies in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Early-Onset Axonal Neuropathy Due To Mitofusin 2 Deficiency Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Early-Onset Axonal Neuropathy Due To Mitofusin 2 Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Opioid Use Disorder, Severe Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Opioid Use Disorder, Severe in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Polycystic Kidneys, Severe Infantile With Tuberous Sclerosis Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Polycystic Kidneys, Severe Infantile With Tuberous Sclerosis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Alpha/Beta T-Cell Lymphopenia With Gamma/Delta T-Cell Expansion, Severe Cytomegalovirus Infection, And Autoimmunity Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Alpha/Beta T-Cell Lymphopenia With Gamma/Delta T-Cell Expansion, Severe Cytomegalovirus Infection, And Autoimmunity in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Early Childhood Onset Retinal Dystrophy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Early Childhood Onset Retinal Dystrophy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Laryngospasm, Severe Neonatal Episodic Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Laryngospasm, Severe Neonatal Episodic in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Infantile-Onset Mesial Temporal Lobe Epilepsy With Severe Cognitive Regression Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Infantile-Onset Mesial Temporal Lobe Epilepsy With Severe Cognitive Regression in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Global Developmental Delay Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Severe Global Developmental Delay in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Severe Muscular Hypotonia Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Severe Muscular Hypotonia in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Severe Diarrhea Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Severe Diarrhea in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Severe B Lymphocytopenia Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Severe B Lymphocytopenia in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Severe Psychomotor Retardation Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Severe Psychomotor Retardation in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Severe Dry Skin Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Severe Dry Skin in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Severe Congenital Neutropenia Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Severe Congenital Neutropenia in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Severe Cutaneous Adverse Reactions (Smq) Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Severe Cutaneous Adverse Reactions (Smq) in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Early Severe Fetal Akinesia Sequence Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Early Severe Fetal Akinesia Sequence in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Severe Postnatal Growth Retardation Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Severe Postnatal Growth Retardation in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Severe Failure To Thrive Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Severe Failure To Thrive in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Severe Photosensitivity Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Severe Photosensitivity in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Severe Hearing Loss Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Severe Hearing Loss in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Severe Intrauterine Growth Retardation Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Severe Intrauterine Growth Retardation in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Severe Generalized Osteoporosis Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Severe Generalized Osteoporosis in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Severe Limb Shortening Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Severe Limb Shortening in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Severe Platyspondyly Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Severe Platyspondyly in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Headache Severe Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Headache Severe in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Severe Speech Delay Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Severe Speech Delay in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Severe Achondrodysplasia With Developmental Delay And Acanthosis Nigricans Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Severe Achondrodysplasia With Developmental Delay And Acanthosis Nigricans in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Severe Back Pain Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Severe Back Pain in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Severe Hydrocephalus Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Severe Hydrocephalus in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Influenza, Severe, Susceptibility To Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Influenza, Severe, Susceptibility To in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Severe Demyelination Of The White Matter Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Severe Demyelination Of The White Matter in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Severe Hydrops Fetalis Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Severe Hydrops Fetalis in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Severe Gastroesophageal Reflux Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Severe Gastroesophageal Reflux in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Severe Feeding Problems Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Severe Feeding Problems in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Severe Carpal Ossification Delay Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Severe Carpal Ossification Delay in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Severe congenital neutropenia type 4 (G6PC3) Gene Setproteins participating in the Severe congenital neutropenia type 4 (G6PC3) pathway from the Reactome Pathways 2024 dataset. |
Severe combined immunodeficiency Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Severe combined immunodeficiency from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Severe congenital encephalopathy due to MECP2 mutation Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Severe congenital encephalopathy due to MECP2 mutation from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Severe congenital neutropenia Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Severe congenital neutropenia from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
X-linked severe combined immunodeficiency Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease X-linked severe combined immunodeficiency from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Severe combined immunodeficiency Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Severe combined immunodeficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Severe COVID-19 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Severe COVID-19 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Severe acute respiratory syndrome Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Severe acute respiratory syndrome in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
X-linked severe combined immunodeficiency Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease X-linked severe combined immunodeficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Severe congenital neutropenia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Severe congenital neutropenia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Severe pre-eclampsia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Severe pre-eclampsia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Severe congenital neutropenia 8 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Severe congenital neutropenia 8 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Intellectual disability-severe speech delay-mild dysmorphism syndrome Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Intellectual disability-severe speech delay-mild dysmorphism syndrome in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
non-severe COVID-19 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease non-severe COVID-19 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
adult-onset severe asthma Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease adult-onset severe asthma in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Severe combined immunodeficiency with sensitivity to ionizing radiation Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Severe combined immunodeficiency with sensitivity to ionizing radiation in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Severe congenital neutropenia 3 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Severe congenital neutropenia 3 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
X-linked severe congenital neutropenia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease X-linked severe congenital neutropenia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Severe nonproliferative diabetic retinopathy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Severe nonproliferative diabetic retinopathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Autosomal dominant severe congenital neutropenia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Autosomal dominant severe congenital neutropenia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Persistent severe asthma Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Persistent severe asthma in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Severe congenital neutropenia 5 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Severe congenital neutropenia 5 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Severe congenital neutropenia 4 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Severe congenital neutropenia 4 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Severe congenital neutropenia 2 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Severe congenital neutropenia 2 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Severe congenital neutropenia 7 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Severe congenital neutropenia 7 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Severe congenital encephalopathy due to MECP2 mutation Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Severe congenital encephalopathy due to MECP2 mutation in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Severe congenital neutropenia 1 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Severe congenital neutropenia 1 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Severe congenital neutropenia 6 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Severe congenital neutropenia 6 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Susceptibility to severe coronavirus disease Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Susceptibility to severe coronavirus disease phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Severe combined immunodeficiency disease Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe combined immunodeficiency disease phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Severe hydrocephalus Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe hydrocephalus phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Severe combined immunodeficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe combined immunodeficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Early onset and severe retinal dystrophy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Early onset and severe retinal dystrophy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Severe neurodegenerative syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe neurodegenerative syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Severe combined immunodeficiency due to DCLRE1C deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe combined immunodeficiency due to DCLRE1C deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Athabaskan severe combined immunodeficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Athabaskan severe combined immunodeficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Severe early-childhood-onset retinal dystrophy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe early-childhood-onset retinal dystrophy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Severe global developmental delay Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe global developmental delay phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Severe X-linked myotubular myopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe X-linked myotubular myopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Severe intellectual deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe intellectual deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Neonatal severe primary hyperparathyroidism Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Neonatal severe primary hyperparathyroidism phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
T-B+ severe combined immunodeficiency due to JAK3 deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the T-B+ severe combined immunodeficiency due to JAK3 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
X-linked severe combined immunodeficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the X-linked severe combined immunodeficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
X-linked severe congenital neutropenia Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the X-linked severe congenital neutropenia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Severe neonatal-onset encephalopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe neonatal-onset encephalopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Severe myoclonic epilepsy in infancy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe myoclonic epilepsy in infancy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
ZAP70-Related Severe Combined Immunodeficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the ZAP70-Related Severe Combined Immunodeficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Severe achondroplasia-developmental delay-acanthosis nigricans syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe achondroplasia-developmental delay-acanthosis nigricans syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Severe sensorineural hearing impairment Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe sensorineural hearing impairment phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Intellectual disability-severe speech delay-mild dysmorphism syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Intellectual disability-severe speech delay-mild dysmorphism syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Atypical severe combined immunodeficiency due to complete RAG1/2 deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Atypical severe combined immunodeficiency due to complete RAG1/2 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Severe intellectual disability-progressive spastic diplegia syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe intellectual disability-progressive spastic diplegia syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Severe combined immunodeficiency due to CARD11 deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe combined immunodeficiency due to CARD11 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Severe congenital neutropenia Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe congenital neutropenia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Severe X-linked mitochondrial encephalomyopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe X-linked mitochondrial encephalomyopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Severe combined immunodeficiency due to CTPS1 deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe combined immunodeficiency due to CTPS1 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Severe underweight in infancy childhood and adolescence Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe underweight in infancy childhood and adolescence phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Autosomal recessive severe congenital neutropenia due to CSF3R deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Severe neurodevelopmental delay Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe neurodevelopmental delay phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Spastic paraplegia-severe developmental delay-epilepsy syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Spastic paraplegia-severe developmental delay-epilepsy syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Severe combined immunodeficiency due to CARMIL2 deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe combined immunodeficiency due to CARMIL2 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Susceptibility to severe COVID- Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Susceptibility to severe COVID- phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Intermediate severe Salla disease Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Intermediate severe Salla disease phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Severe combined immunodeficiency due to DNA-PKcs deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe combined immunodeficiency due to DNA-PKcs deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Severe combined immunodeficiency due to CORO1A deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe combined immunodeficiency due to CORO1A deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Severe combined immunodeficiency due to IKK2 deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe combined immunodeficiency due to IKK2 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Severe dermatitis-multiple allergies-metabolic wasting syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe dermatitis-multiple allergies-metabolic wasting syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Severe combined immunodeficiency due to LCK deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe combined immunodeficiency due to LCK deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome Gene SetFrom 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. |
Severe muscular hypotonia Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe muscular hypotonia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Severe Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Severe combined immunodeficiency due to LAT deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe combined immunodeficiency due to LAT deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
CV-A6-associated hand, foot, and mouth disease (severe vs mild) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the CV-A6-associated hand, foot, and mouth disease (severe vs mild) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Severe COVID-19 infection with respiratory failure (analysis I) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Severe COVID-19 infection with respiratory failure (analysis I) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Severe COVID-19 infection with respiratory failure (analysis II) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Severe COVID-19 infection with respiratory failure (analysis II) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Statin-induced myopathy (severe) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Statin-induced myopathy (severe) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Pelvic organ prolapse (moderate/severe) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Pelvic organ prolapse (moderate/severe) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Severe influenza A (H1N1) infection Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Severe influenza A (H1N1) infection phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Severe malaria Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Severe malaria phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Cold medicine-related Stevens-Johnson syndrome/toxic epidermal necrolysis (SJS/TEN) with severe ocular complications Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Cold medicine-related Stevens-Johnson syndrome/toxic epidermal necrolysis (SJS/TEN) with severe ocular complications phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Chronic kidney disease (severe chronic kidney disease vs normal kidney function) in type 1 diabetes Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Chronic kidney disease (severe chronic kidney disease vs normal kidney function) in type 1 diabetes phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Severe malaria (adjusted for sickle cell variant rs334) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Severe malaria (adjusted for sickle cell variant rs334) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Moderate or severe prolonged lymphopenia in dimethyl fumarate-treated relapsing-remitting multiple sclerosis Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Moderate or severe prolonged lymphopenia in dimethyl fumarate-treated relapsing-remitting multiple sclerosis phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Severe aplastic anemia Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Severe aplastic anemia phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Severe aortic features in Marfan syndrome Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Severe aortic features in Marfan syndrome phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Severe skin toxicity response to cetuximab in colorectal cancer Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Severe skin toxicity response to cetuximab in colorectal cancer phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Asthma (moderate or severe) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Asthma (moderate or severe) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Acne (severe) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Acne (severe) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Chronic obstructive pulmonary disease (moderate to severe) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Chronic obstructive pulmonary disease (moderate to severe) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Chronic obstructive pulmonary disease (severe) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Chronic obstructive pulmonary disease (severe) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Osteoarthritis (hand, severe) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Osteoarthritis (hand, severe) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Myopia (severe) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Myopia (severe) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Pharmacokinetics of antiepileptic drugs in severe mental disorder (concentration drug ratio) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Pharmacokinetics of antiepileptic drugs in severe mental disorder (concentration drug ratio) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Pharmacokinetics of antipsychotic drugs in severe mental disorder (concentration drug ratio) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Pharmacokinetics of antipsychotic drugs in severe mental disorder (concentration drug ratio) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Pharmacokinetics of olanzapine in severe mental disorder (concentration dose ratio) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Pharmacokinetics of olanzapine in severe mental disorder (concentration dose ratio) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Cold medicine-related Stevens-Johnson syndrome/toxic epidermal necrolysis (SJS/TEN) with severe mucosal involvement Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Cold medicine-related Stevens-Johnson syndrome/toxic epidermal necrolysis (SJS/TEN) with severe mucosal involvement phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Asthma with severe exacerbations Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Asthma with severe exacerbations phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Severe diabetic retinopathy in type 2 diabetes Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Severe diabetic retinopathy in type 2 diabetes phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Hypospadias (moderate to severe) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Hypospadias (moderate to severe) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Glucosuria (moderate to severe) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Glucosuria (moderate to severe) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Hematuria (moderate to severe) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Hematuria (moderate to severe) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Proteinuria (moderate to severe) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Proteinuria (moderate to severe) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Ketonuria (moderate to severe) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Ketonuria (moderate to severe) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Childhood asthma with severe exacerbations Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Childhood asthma with severe exacerbations phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Treatment response for severe sepsis Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Treatment response for severe sepsis phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Adolescent idiopathic scoliosis (severe) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Adolescent idiopathic scoliosis (severe) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Response to mepolizumab in severe asthma Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Response to mepolizumab in severe asthma phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Thiopurine-induced severe leukopenia in inflammatory bowel disease Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Thiopurine-induced severe leukopenia in inflammatory bowel disease phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Thiopurine-induced acute severe leukopenia in inflammatory bowel disease Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Thiopurine-induced acute severe leukopenia in inflammatory bowel disease phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Thiopurine-induced severe alopecia in inflammatory bowel disease Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Thiopurine-induced severe alopecia in inflammatory bowel disease phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Erosive tooth wear (severe vs none or mild) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Erosive tooth wear (severe vs none or mild) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Severe progression in rheumatoid arthritis Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Severe progression in rheumatoid arthritis phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Severe bacterial meningitis Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Severe bacterial meningitis phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Severe exacerbations in childhood asthma Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Severe exacerbations in childhood asthma phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Moderate or severe diarrhoea in darapladib-treated cardiovascular disease (time to event) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Moderate or severe diarrhoea in darapladib-treated cardiovascular disease (time to event) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Severe gingival inflammation Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Severe gingival inflammation phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Severe gastric atrophy Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Severe gastric atrophy phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Severe insulin-deficient type 2 diabetes Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Severe insulin-deficient type 2 diabetes phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Severe insulin-resistant type 2 diabetes Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Severe insulin-resistant type 2 diabetes phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Severe autoimmune type 2 diabetes Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Severe autoimmune type 2 diabetes phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Symptoms in placebo-treated COVID-19 outpatients at risk of severe disease (time to remission) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Symptoms in placebo-treated COVID-19 outpatients at risk of severe disease (time to remission) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Severe coronary stenosis (young age of onset interaction) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Severe coronary stenosis (young age of onset interaction) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |