Name

PKDTS Gene

polycystic kidney disease, infantile severe, with tuberous sclerosis

USH1C Gene

Usher 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 Gene

Usher syndrome 1E (autosomal recessive, severe)

MRST Gene

Mental retardation, severe, with spasticity and tapetoretinal

COPD Gene

Pulmonary disease, chronic obstructive, severe early-onset

severe lactic acidosis Gene Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From CTD Gene-Chemical Interactions

genes/proteins interacting with the chemical Lactic Acid from the curated CTD Gene-Chemical Interactions dataset.

D-Lactic Acid Gene Set

From DrugBank Drug Targets

interacting proteins for the D-Lactic Acid drug from the curated DrugBank Drug Targets dataset.

Lactic Acid Gene Set

From DrugBank Drug Targets

interacting proteins for the Lactic Acid drug from the curated DrugBank Drug Targets dataset.

lactic Gene Set

From 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 Set

From 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 Set

From 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 Set

From HMDB Metabolites of Enzymes

interacting proteins for the L-Lactic acid metabolite from the curated HMDB Metabolites of Enzymes dataset.

D-Lactic acid Gene Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From MW Enzyme Metabolite Associations

interacting proteins for Lactic acid metabolite from the MW Gene Metabolite Associations dataset.

D-LACTIC ACID Gene Set

From DGIdb Drug Targets 2026

interacting proteins for the D-LACTIC ACID drug from theDGIdb Drug Targets 2026 dataset.

L-LACTIC ACID Gene Set

From DGIdb Drug Targets 2026

interacting proteins for the L-LACTIC ACID drug from theDGIdb Drug Targets 2026 dataset.

Osteopetrosis with renal tubular acidosis Gene Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From CTD Gene-Disease Associations

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

Acidosis, Respiratory Gene Set

From CTD Gene-Disease Associations

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

renal tubular acidosis Gene Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From MPO Gene-Phenotype Associations

gene mutations causing the renal tubular acidosis phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

acidosis Gene Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From Reactome Pathways 2024

proteins 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 Set

From Reactome Pathways 2024

proteins 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Severe Combined Immunodeficiency from the curated CTD Gene-Disease Associations dataset.

Severe Dengue Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Severe Dengue from the curated CTD Gene-Disease Associations dataset.

Abnormalities, Severe Teratoid Gene Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From GWAS Catalog SNP-Phenotype Associations

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

Myopia (severe) Gene Set

From 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 Set

From GWAS Catalog SNP-Phenotype Associations

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

Asthma (childhood, severe) Gene Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From OMIM Gene-Disease Associations

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

alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity Gene Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From DisGeNET Gene-Disease Associations

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

Severe Periodontitis Gene Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From DisGeNET Gene-Disease Associations

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

Varicella, Severe Recurrent Gene Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From Reactome Pathways 2024

proteins participating in the Severe congenital neutropenia type 4 (G6PC3) pathway from the Reactome Pathways 2024 dataset.

Severe combined immunodeficiency Gene Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From ClinVar Gene-Phenotype Associations 2025

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

Severe muscular hypotonia Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Severe muscular hypotonia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Severe Gene Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From GWAS Catalog SNP-Phenotype Associations 2025

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

Chronic obstructive pulmonary disease (severe) Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

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

Osteoarthritis (hand, severe) Gene Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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.