| Name |
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PKDTS Genepolycystic kidney disease, infantile severe, with tuberous sclerosis |
TSC1 Genetuberous sclerosis 1 This gene is a tumor suppressor gene that encodes the growth inhibitory protein hamartin. The encoded protein interacts with and stabilizes the GTPase activating protein tuberin. This hamartin-tuberin complex negatively regulates mammalian target of rapamycin complex 1 (mTORC1) signaling which is a major regulator of anabolic cell growth. This protein also functions as a co-chaperone for Hsp90 that inhibits its ATPase activity. This protein functions as a facilitator of Hsp90-mediated folding of kinase and non-kinase clients, including TSC2 and thereby preventing their ubiquitination and proteasomal degradation. Mutations in this gene have been associated with tuberous sclerosis and lymphangioleiomyomatosis. [provided by RefSeq, May 2022] |
TSC2 Genetuberous sclerosis 2 This gene is a tumor suppressor gene that encodes the growth inhibitory protein tuberin. Tuberin interacts with hamartin to form the TSC protein complex which functions in the control of cell growth. This TSC protein complex negatively regulates mammalian target of rapamycin complex 1 (mTORC1) signaling which is a major regulator of anabolic cell growth. Mutations in this gene have been associated with tuberous sclerosis and lymphangioleiomyomatosis. [provided by RefSeq, May 2022] |
USH1C GeneUsher syndrome 1C (autosomal recessive, severe) This gene encodes a scaffold protein that functions in the assembly of Usher protein complexes. The protein contains PDZ domains, a coiled-coil region with a bipartite nuclear localization signal and a PEST degradation sequence. Defects in this gene are the cause of Usher syndrome type 1C and non-syndromic sensorineural deafness autosomal recessive type 18. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009] |
USH1E GeneUsher syndrome 1E (autosomal recessive, severe) |
MRST GeneMental retardation, severe, with spasticity and tapetoretinal |
COPD GenePulmonary disease, chronic obstructive, severe early-onset |
BFIS1 Genebenign familial infantile convulsions |
NYS5 GeneNystagmus 5, infantile periodic alternating |
CLN6 Geneceroid-lipofuscinosis, neuronal 6, late infantile, variant This gene is one of eight which have been associated with neuronal ceroid lipofuscinoses (NCL). Also referred to as Batten disease, NCL comprises a class of autosomal recessive, neurodegenerative disorders affecting children. The genes responsible likely encode proteins involved in the degradation of post-translationally modified proteins in lysosomes. The primary defect in NCL disorders is thought to be associated with lysosomal storage function. [provided by RefSeq, Oct 2008] |
BFIS4 GeneConvulsions, benign familial infantile, 4 |
BFIC2 GeneBenign familial infantile convulsions-2 |
EIM GeneInfantile myoclonic epilepsy |
GLC3B Geneglaucoma 3, primary infantile, B |
IHPS2 GenePyloric stenosis, infantile hypertrophic, 2 |
CMS1A1 Genemyasthenia gravis, familial infantile, 1 |
IHPS5 GenePyloric stenosis, infantile hypertrophic, 5 |
IHPS4 GenePyloric stenosis, infantile hypertrophic, 4 |
IHPS3 GenePyloric stenosis, infantile hypertrophic, 3 |
PKHD1L1 Genepolycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 Predicted to enable signaling receptor activity. Predicted to be involved in immune response. Predicted to act upstream of or within sensory perception of sound. Predicted to be located in cytosol; extracellular space; and membrane. Implicated in autosomal recessive nonsyndromic deafness. [provided by Alliance of Genome Resources, Mar 2025] |
PKD1P1 Genepolycystic kidney disease 1 (autosomal dominant) pseudogene 1 |
PKD1P2 Genepolycystic kidney disease 1 (autosomal dominant) pseudogene 2 |
PKD1P3 Genepolycystic kidney disease 1 (autosomal dominant) pseudogene 3 |
PKD1P4 Genepolycystic kidney disease 1 (autosomal dominant) pseudogene 4 |
PKD1P5 Genepolycystic kidney disease 1 (autosomal dominant) pseudogene 5 |
PKD1P6 Genepolycystic kidney disease 1 (autosomal dominant) pseudogene 6 |
PCOS1 Genepolycystic ovary syndrome 1 |
PKD3 Genepolycystic kidney disease 3 (autosomal dominant) |
PKD2 Genepolycystic kidney disease 2 (autosomal dominant) This gene encodes a member of the polycystin protein family. The encoded protein is a multi-pass membrane protein that functions as a calcium permeable cation channel, and is involved in calcium transport and calcium signaling in renal epithelial cells. This protein interacts with polycystin 1, and they may be partners in a common signaling cascade involved in tubular morphogenesis. Mutations in this gene are associated with autosomal dominant polycystic kidney disease type 2. [provided by RefSeq, Mar 2011] |
PKD1 Genepolycystic kidney disease 1 (autosomal dominant) This gene encodes a member of the polycystin protein family. The encoded glycoprotein contains a large N-terminal extracellular region, multiple transmembrane domains and a cytoplasmic C-tail. It is an integral membrane protein that functions as a regulator of calcium permeable cation channels and intracellular calcium homoeostasis. It is also involved in cell-cell/matrix interactions and may modulate G-protein-coupled signal-transduction pathways. It plays a role in renal tubular development, and mutations in this gene cause autosomal dominant polycystic kidney disease type 1 (ADPKD1). ADPKD1 is characterized by the growth of fluid-filled cysts that replace normal renal tissue and result in end-stage renal failure. Splice variants encoding different isoforms have been noted for this gene. Also, six pseudogenes, closely linked in a known duplicated region on chromosome 16p, have been described. [provided by RefSeq, Oct 2008] |
PKD1L1 Genepolycystic kidney disease 1 like 1 This gene encodes a member of the polycystin protein family containing 11 transmembrane domains, a receptor for egg jelly (REJ) domain, and a polycystin-1, lipoxygenase, alpha-toxin (PLAT) domain. The encoded protein may play a role in the male reproductive system. Alternative splice variants have been described but their biological nature has not been determined. [provided by RefSeq, Jul 2008] |
PKD1L2 Genepolycystic kidney disease 1-like 2 (gene/pseudogene) This gene encodes a member of the polycystin protein family. This protein may function as a G-protein-coupled component or regulator of cation channel pores. The long isoform of this protein contains 11 transmembrane domains, a latrophilin/CL-1-like GPCR proteolytic site (GPS) domain, and a polycystin-1, lipoxygenase, alpha-toxin (PLAT) domain. Alternative splicing results in multiple transcript variants encoding distinct isoforms. This gene is a polymorphic pseudogene in humans. [provided by RefSeq, May 2022] |
PKD1L3 Genepolycystic kidney disease 1-like 3 This gene encodes a member of the polycystin protein family. The encoded protein contains 11 transmembrane domains, a latrophilin/CL-1-like GPCR proteolytic site (GPS) domain, and a polycystin-1, lipoxygenase, alpha-toxin (PLAT) domain. This protein may function as a component of cation channel pores.[provided by RefSeq, Apr 2009] |
PKHD1 Genepolycystic kidney and hepatic disease 1 (autosomal recessive) The protein encoded by this gene is predicted to have a single transmembrane (TM)-spanning domain and multiple copies of an immunoglobulin-like plexin-transcription-factor domain. Alternative splicing results in two transcript variants encoding different isoforms. Other alternatively spliced transcripts have been described, but the full length sequences have not been determined. Several of these transcripts are predicted to encode truncated products which lack the TM and may be secreted. Mutations in this gene cause autosomal recessive polycystic kidney disease, also known as polycystic kidney and hepatic disease-1. [provided by RefSeq, Jul 2008] |
PKD2L2 Genepolycystic kidney disease 2-like 2 Predicted to enable calcium channel activity. Predicted to be involved in detection of mechanical stimulus. Predicted to be active in membrane. [provided by Alliance of Genome Resources, Mar 2025] |
PKD2L1 Genepolycystic kidney disease 2-like 1 This gene encodes a member of the polycystin protein family. The encoded protein contains multiple transmembrane domains, and cytoplasmic N- and C-termini. The protein may be an integral membrane protein involved in cell-cell/matrix interactions. This protein functions as a calcium-regulated nonselective cation channel. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011] |
Polycystic kidneys, severe infantile with tuberous sclerosis Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Polycystic kidneys, severe infantile with tuberous sclerosis from the curated CTD Gene-Disease Associations dataset. |
Polycystic Kidneys, Severe Infantile With Tuberous Sclerosis Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Polycystic Kidneys, Severe Infantile With Tuberous Sclerosis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
polycystic kidney disease, infantile severe, with tuberous sclerosis Gene SetFrom OMIM Gene-Disease Associations genes associated with the polycystic kidney disease, infantile severe, with tuberous sclerosis phenotype from the curated OMIM Gene-Disease Associations dataset. |
Tuberous Sclerosis 2 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Tuberous Sclerosis 2 from the curated CTD Gene-Disease Associations dataset. |
Tuberous Sclerosis 1 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Tuberous Sclerosis 1 from the curated CTD Gene-Disease Associations dataset. |
Tuberous Sclerosis Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Tuberous Sclerosis from the curated CTD Gene-Disease Associations dataset. |
tuberous sclerosis Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease tuberous sclerosis from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
tuberous sclerosis Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease tuberous sclerosis in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
angiomyolipoma; dna damage; kidney neoplasms; tuberous sclerosis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease angiomyolipoma; dna damage; kidney neoplasms; tuberous sclerosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
tuberous sclerosis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease tuberous sclerosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
tuberous sclerosis phenotypes Gene SetFrom GAD Gene-Disease Associations genes associated with the disease tuberous sclerosis phenotypes in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
cysts; epilepsy; tuberous sclerosis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease cysts; epilepsy; tuberous sclerosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
tuberous sclerosis 1 Gene SetFrom GAD Gene-Disease Associations genes associated with the disease tuberous sclerosis 1 in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
Tuberous Sclerosis Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Tuberous Sclerosis phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
tuberous sclerosis-1 Gene SetFrom OMIM Gene-Disease Associations genes associated with the tuberous sclerosis-1 phenotype from the curated OMIM Gene-Disease Associations dataset. |
tuberous sclerosis-2 Gene SetFrom OMIM Gene-Disease Associations genes associated with the tuberous sclerosis-2 phenotype from the curated OMIM Gene-Disease Associations dataset. |
tuberous sclerosis Gene SetFrom PhosphoSitePlus Phosphosite-Disease Associations proteins associated with the disease tuberous sclerosis from the curated PhosphoSitePlus Phosphosite-Disease Associations dataset. |
Tuberous Sclerosis Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Tuberous Sclerosis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Tuberous Sclerosis 1 (Disorder) Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Tuberous Sclerosis 1 (Disorder) in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Fibrous Skin Tumor Of Tuberous Sclerosis Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Fibrous Skin Tumor Of Tuberous Sclerosis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Tuberous Sclerosis 2 (Disorder) Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Tuberous Sclerosis 2 (Disorder) in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Tuberous sclerosis Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Tuberous sclerosis from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Tuberous sclerosis Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Tuberous sclerosis in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Tuberous sclerosis Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Tuberous sclerosis phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Tuberous sclerosis syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Tuberous sclerosis syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Tuberous sclerosis and lymphangiomyomatosis Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Tuberous sclerosis and lymphangiomyomatosis phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
menarch; natural menopause; obesity; pof - premature ovarian failure; polycystic ovarian syndrome; polycystic ovary syndrome; primary ovarian insufficiency; puberty, delayed; puberty, precocious Gene SetFrom GAD Gene-Disease Associations genes associated with the disease menarch; natural menopause; obesity; pof - premature ovarian failure; polycystic ovarian syndrome; polycystic ovary syndrome; primary ovarian insufficiency; puberty, delayed; puberty, precocious in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
hyperhomocysteinemia; polycystic ovarian syndrome; polycystic ovary syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease hyperhomocysteinemia; polycystic ovarian syndrome; polycystic ovary syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
pof - premature ovarian failure; polycystic ovarian syndrome; polycystic ovary syndrome; primary ovarian insufficiency Gene SetFrom GAD Gene-Disease Associations genes associated with the disease pof - premature ovarian failure; polycystic ovarian syndrome; polycystic ovary syndrome; primary ovarian insufficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
hyperandrogenism; polycystic ovarian syndrome; polycystic ovary syndrome; puberty, precocious Gene SetFrom GAD Gene-Disease Associations genes associated with the disease hyperandrogenism; polycystic ovarian syndrome; polycystic ovary syndrome; puberty, precocious in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
hyperandrogenism; insulin resistance; obesity; polycystic ovarian syndrome; polycystic ovary syndrome; thinness Gene SetFrom GAD Gene-Disease Associations genes associated with the disease hyperandrogenism; insulin resistance; obesity; polycystic ovarian syndrome; polycystic ovary syndrome; thinness in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
endometriosis; infertility, female; polycystic ovarian syndrome; polycystic ovary syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease endometriosis; infertility, female; polycystic ovarian syndrome; polycystic ovary syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
polycystic ovarian syndrome; polycystic ovary syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease polycystic ovarian syndrome; polycystic ovary syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
obesity; natural menopause; pof - premature ovarian failure; polycystic ovarian syndrome; polycystic ovary syndrome; primary ovarian insufficiency; puberty, delayed; puberty, precocious; thrombophilia; tobacco use disorder Gene SetFrom GAD Gene-Disease Associations genes associated with the disease obesity; natural menopause; pof - premature ovarian failure; polycystic ovarian syndrome; polycystic ovary syndrome; primary ovarian insufficiency; puberty, delayed; puberty, precocious; thrombophilia; tobacco use disorder in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
hyperandrogenism; hyperinsulinism; insulin resistance; polycystic ovarian syndrome; polycystic ovary syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease hyperandrogenism; hyperinsulinism; insulin resistance; polycystic ovarian syndrome; polycystic ovary syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
infertility, female; insulin resistance; polycystic ovarian syndrome; polycystic ovary syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease infertility, female; insulin resistance; polycystic ovarian syndrome; polycystic ovary syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
natural menopause; obesity; pof - premature ovarian failure; polycystic ovarian syndrome; polycystic ovary syndrome; primary ovarian insufficiency; puberty, delayed; puberty, precocious; thrombophilia; tobacco use disorder Gene SetFrom GAD Gene-Disease Associations genes associated with the disease natural menopause; obesity; pof - premature ovarian failure; polycystic ovarian syndrome; polycystic ovary syndrome; primary ovarian insufficiency; puberty, delayed; puberty, precocious; thrombophilia; tobacco use disorder in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
infertility; polycystic ovarian syndrome; polycystic ovary syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease infertility; polycystic ovarian syndrome; polycystic ovary syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
glucose intolerance; polycystic ovarian syndrome; polycystic ovary syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease glucose intolerance; polycystic ovarian syndrome; polycystic ovary syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
insulin resistance; polycystic ovarian syndrome; polycystic ovary syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease insulin resistance; polycystic ovarian syndrome; polycystic ovary syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
obesity; polycystic ovarian syndrome; polycystic ovary syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease obesity; polycystic ovarian syndrome; polycystic ovary syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
inflammation; insulin resistance; polycystic ovarian syndrome; polycystic ovary syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease inflammation; insulin resistance; polycystic ovarian syndrome; polycystic ovary syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
acne vulgaris; adrenal hyperplasia, congenital; congenital adrenal hyperplasia; hyperandrogenism; polycystic ovarian syndrome; polycystic ovary syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease acne vulgaris; adrenal hyperplasia, congenital; congenital adrenal hyperplasia; hyperandrogenism; polycystic ovarian syndrome; polycystic ovary syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
polycystic ovarian syndrome; polycystic ovary syndrome; puberty, precocious Gene SetFrom GAD Gene-Disease Associations genes associated with the disease polycystic ovarian syndrome; polycystic ovary syndrome; puberty, precocious in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
polycystic ovarian syndrome; polycystic ovary syndrome; thrombophilia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease polycystic ovarian syndrome; polycystic ovary syndrome; thrombophilia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
menarch; obesity; pof - premature ovarian failure; polycystic ovarian syndrome; polycystic ovary syndrome; primary ovarian insufficiency; puberty, delayed; puberty, precocious Gene SetFrom GAD Gene-Disease Associations genes associated with the disease menarch; obesity; pof - premature ovarian failure; polycystic ovarian syndrome; polycystic ovary syndrome; primary ovarian insufficiency; puberty, delayed; puberty, precocious in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
insulin resistance; metabolic syndrome x; polycystic ovarian syndrome; polycystic ovary syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease insulin resistance; metabolic syndrome x; polycystic ovarian syndrome; polycystic ovary syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
diabetes mellitus; glucose intolerance; insulin resistance; polycystic ovarian syndrome; polycystic ovary syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease diabetes mellitus; glucose intolerance; insulin resistance; polycystic ovarian syndrome; polycystic ovary syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
hirsutism; insulin resistance; polycystic ovarian syndrome; polycystic ovary syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease hirsutism; insulin resistance; polycystic ovarian syndrome; polycystic ovary syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
Polycystic kidney disease, infantile type Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Polycystic kidney disease, infantile type phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Desmoplastic infantile ganglioglioma / desmoplastic infantile astrocytoma Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Desmoplastic infantile ganglioglioma / desmoplastic infantile astrocytoma in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Sialic acid storage disease, severe infantile type Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Sialic acid storage disease, severe infantile type phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Infantile Severe Myoclonic Epilepsy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Infantile Severe Myoclonic Epilepsy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Infantile-Onset Mesial Temporal Lobe Epilepsy With Severe Cognitive Regression Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Infantile-Onset Mesial Temporal Lobe Epilepsy With Severe Cognitive Regression in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Frontonasal Dysplasia, Severe Microphthalmia, Severe Facial Clefting Syndrome Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Frontonasal Dysplasia, Severe Microphthalmia, Severe Facial Clefting Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Erosive tooth wear (severe vs non-severe) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Erosive tooth wear (severe vs non-severe) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
46,XX SEX REVERSAL WITH DYSGENESIS OF KIDNEYS, ADRENALS, AND LUNGS Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease 46,XX SEX REVERSAL WITH DYSGENESIS OF KIDNEYS, ADRENALS, AND LUNGS from the curated CTD Gene-Disease Associations dataset. |
kidneys Gene SetFrom GeneRIF Biological Term Annotations genes co-occuring with the biological term kidneys in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset. |
LHX1_NULL MUTATION - Ablation_GDS1748_748_mouse_Embryonic kidneys (from day E14.5) Gene SetFrom GEO Signatures of Differentially Expressed Genes for Gene Perturbations genes differentially expressed following the LHX1_NULL MUTATION - Ablation_GDS1748_748_mouse_Embryonic kidneys (from day E14.5) gene perturbation from the GEO Signatures of Differentially Expressed Genes for Gene Perturbations dataset. |
LHX1_NULL MUTATION - Ablation_GDS1748_749_mouse_Embryonic kidneys (from day E18.5) Gene SetFrom GEO Signatures of Differentially Expressed Genes for Gene Perturbations genes differentially expressed following the LHX1_NULL MUTATION - Ablation_GDS1748_749_mouse_Embryonic kidneys (from day E18.5) gene perturbation from the GEO Signatures of Differentially Expressed Genes for Gene Perturbations dataset. |
enlarged kidneys Gene SetFrom HPO Gene-Disease Associations genes associated with the enlarged kidneys phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
hyperechogenic kidneys Gene SetFrom HPO Gene-Disease Associations genes associated with the hyperechogenic kidneys phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
fused kidneys Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the fused kidneys phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
Congenital Absence Of Kidneys Syndrome Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Congenital Absence Of Kidneys Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Bilateral Multicystic Dysplastic Kidneys Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Bilateral Multicystic Dysplastic Kidneys in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Sex Reversal, Female, With Dysgenesis Of Kidneys, Adrenals, And Lungs Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Sex Reversal, Female, With Dysgenesis Of Kidneys, Adrenals, And Lungs in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Normal Kidneys Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Normal Kidneys in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Hyperechogenic Kidneys Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Hyperechogenic Kidneys in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Echogenic Kidneys Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Echogenic Kidneys in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
fused kidneys Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the fused kidneys phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
Hyperechogenic kidneys Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Hyperechogenic kidneys phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Moderate or severe prolonged lymphopenia in dimethyl fumarate-treated relapsing-remitting multiple sclerosis Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Moderate or severe prolonged lymphopenia in dimethyl fumarate-treated relapsing-remitting multiple sclerosis phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
multiple sclerosis, chronic progressive; multiple sclerosis, relapsing-remitting Gene SetFrom GAD Gene-Disease Associations genes associated with the disease multiple sclerosis, chronic progressive; multiple sclerosis, relapsing-remitting in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
multiple sclerosis(ppmultiple sclerosis) Gene SetFrom GAD Gene-Disease Associations genes associated with the disease multiple sclerosis(ppmultiple sclerosis) in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
multiple sclerosis, chronic progressive; multiple sclerosis, relapsing-remitting; psoriasis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease multiple sclerosis, chronic progressive; multiple sclerosis, relapsing-remitting; psoriasis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
Multiple sclerosis or amyotrophic lateral sclerosis Gene SetFrom GWAS Catalog SNP-Phenotype Associations genes associated with the Multiple sclerosis or amyotrophic lateral sclerosis phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset. |
Multiple sclerosis or amyotrophic lateral sclerosis Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Multiple sclerosis or amyotrophic lateral sclerosis phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
tuberous Gene SetFrom GeneRIF Biological Term Annotations genes co-occuring with the biological term tuberous in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset. |
tuberous root Gene SetFrom TISSUES Text-mining Tissue Protein Expression Evidence Scores proteins co-occuring with the tissue tuberous root in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores dataset. |
Tuberous Xanthoma Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Tuberous Xanthoma in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Tuberous root Gene SetFrom TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 proteins co-occuring with the tissue Tuberous root in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 dataset. |
Polycystic kidney disease 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Polycystic kidney disease 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Polycystic kidney disease, adult type Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Polycystic kidney disease, adult type phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Polycystic liver disease Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Polycystic liver disease from the curated CTD Gene-Disease Associations dataset. |
Polycystic Kidney, Autosomal Recessive Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Polycystic Kidney, Autosomal Recessive from the curated CTD Gene-Disease Associations dataset. |
Polycystic Kidney, Autosomal Dominant Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Polycystic Kidney, Autosomal Dominant from the curated CTD Gene-Disease Associations dataset. |
Polycystic Ovary Syndrome Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Polycystic Ovary Syndrome from the curated CTD Gene-Disease Associations dataset. |
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy from the curated CTD Gene-Disease Associations dataset. |
Polycystic Kidney Diseases Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Polycystic Kidney Diseases from the curated CTD Gene-Disease Associations dataset. |
Polycystic Ovary Syndrome Gene SetFrom dbGAP Gene-Trait Associations genes associated with the trait Polycystic Ovary Syndrome in GWAS and other genetic association datasets from the dbGAP Gene-Trait Associations dataset. |
polycystic kidney disease Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease polycystic kidney disease from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
polycystic ovary syndrome Gene SetFrom DISEASES Experimental Gene-Disease Association Evidence Scores genes associated with the disease polycystic ovary syndrome in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores dataset. |
polycystic kidney disease Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease polycystic kidney disease in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
polycystic liver disease Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease polycystic liver disease in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
polycystic ovary syndrome Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease polycystic ovary syndrome in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
polycystic ovary syndrome; hyperandrogenism Gene SetFrom GAD Gene-Disease Associations genes associated with the disease polycystic ovary syndrome; hyperandrogenism in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
nephritis, interstitial; polycystic kidney diseases Gene SetFrom GAD Gene-Disease Associations genes associated with the disease nephritis, interstitial; polycystic kidney diseases in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
chronic renal failure; kidney failure, chronic; polycystic kidney, autosomal dominant Gene SetFrom GAD Gene-Disease Associations genes associated with the disease chronic renal failure; kidney failure, chronic; polycystic kidney, autosomal dominant in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
polycystic kidney disease 1 Gene SetFrom GAD Gene-Disease Associations genes associated with the disease polycystic kidney disease 1 in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
cardiovascular diseases; polycystic ovary syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease cardiovascular diseases; polycystic ovary syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
glucose intolerance; obesity; polycystic ovary syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease glucose intolerance; obesity; polycystic ovary syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
kidney failure, chronic; polycystic kidney, autosomal dominant Gene SetFrom GAD Gene-Disease Associations genes associated with the disease kidney failure, chronic; polycystic kidney, autosomal dominant in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
chronic renal failure; hypertrophy, left ventricular; kidney failure, chronic; left ventricular hypertrophy; polycystic kidney, autosomal dominant Gene SetFrom GAD Gene-Disease Associations genes associated with the disease chronic renal failure; hypertrophy, left ventricular; kidney failure, chronic; left ventricular hypertrophy; polycystic kidney, autosomal dominant in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
polycystic ovarian syndrome; hyperinsulinemia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease polycystic ovarian syndrome; hyperinsulinemia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
glomerulonephritis, iga; iga glomerulonephritides; polycystic kidney, autosomal dominant Gene SetFrom GAD Gene-Disease Associations genes associated with the disease glomerulonephritis, iga; iga glomerulonephritides; polycystic kidney, autosomal dominant in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
inflammation; polycystic ovary syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease inflammation; polycystic ovary syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
diabetic nephropathy; polycystic kidney disease Gene SetFrom GAD Gene-Disease Associations genes associated with the disease diabetic nephropathy; polycystic kidney disease in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
anovulation; infertility, female; polycystic ovary syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease anovulation; infertility, female; polycystic ovary syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
polycystic ovary Gene SetFrom GAD Gene-Disease Associations genes associated with the disease polycystic ovary in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
diabetes mellitus; polycystic kidney, autosomal dominant Gene SetFrom GAD Gene-Disease Associations genes associated with the disease diabetes mellitus; polycystic kidney, autosomal dominant in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
chronic renal failure; hypertension; kidney failure, chronic; polycystic kidney, autosomal dominant Gene SetFrom GAD Gene-Disease Associations genes associated with the disease chronic renal failure; hypertension; kidney failure, chronic; polycystic kidney, autosomal dominant in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
acne vulgaris; hirsutism; hyperandrogenism; polycystic ovary syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease acne vulgaris; hirsutism; hyperandrogenism; polycystic ovary syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
polycystic ovary syndrome; adrenal androgen Gene SetFrom GAD Gene-Disease Associations genes associated with the disease polycystic ovary syndrome; adrenal androgen in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
polycystic ovary syndrome; pregnancy loss, recurrent Gene SetFrom GAD Gene-Disease Associations genes associated with the disease polycystic ovary syndrome; pregnancy loss, recurrent in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
early onset of esrf in pkd1 adult polycystic kidney disease Gene SetFrom GAD Gene-Disease Associations genes associated with the disease early onset of esrf in pkd1 adult polycystic kidney disease in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
cardiovascular risk; polycystic ovary syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease cardiovascular risk; polycystic ovary syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
polycystic kidney disease Gene SetFrom GAD Gene-Disease Associations genes associated with the disease polycystic kidney disease in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
chronic renal failure; diabetes mellitus type ii; diabetes mellitus, type 2; glomerulonephritis; kidney failure, chronic; polycystic kidney, autosomal dominant Gene SetFrom GAD Gene-Disease Associations genes associated with the disease chronic renal failure; diabetes mellitus type ii; diabetes mellitus, type 2; glomerulonephritis; kidney failure, chronic; polycystic kidney, autosomal dominant in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
hyperandrogenism; insulin resistance; obesity; polycystic ovary syndrome; leanness Gene SetFrom GAD Gene-Disease Associations genes associated with the disease hyperandrogenism; insulin resistance; obesity; polycystic ovary syndrome; leanness in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
polycystic ovary syndrome; diabetes Gene SetFrom GAD Gene-Disease Associations genes associated with the disease polycystic ovary syndrome; diabetes in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
polycystic liver disease Gene SetFrom GAD Gene-Disease Associations genes associated with the disease polycystic liver disease in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
diabetes, type 2; polycystic ovarian syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease diabetes, type 2; polycystic ovarian syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
cystic fibrosis; polycystic kidney, autosomal dominant Gene SetFrom GAD Gene-Disease Associations genes associated with the disease cystic fibrosis; polycystic kidney, autosomal dominant in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
amenorrhea; hirsutism; insulin resistance; obesity; oligomenorrhea; polycystic ovary syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease amenorrhea; hirsutism; insulin resistance; obesity; oligomenorrhea; polycystic ovary syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
body weight; polycystic ovary syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease body weight; polycystic ovary syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
diabetes mellitus, type 2; obesity; polycystic ovary syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease diabetes mellitus, type 2; obesity; polycystic ovary syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
polycystic ovarian syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease polycystic ovarian syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
polycystic kidney diseases Gene SetFrom GAD Gene-Disease Associations genes associated with the disease polycystic kidney diseases in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
insulin; glucose; polycystic ovary syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease insulin; glucose; polycystic ovary syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
glomerulonephritis, iga; kidney failure, chronic; polycystic kidney diseases Gene SetFrom GAD Gene-Disease Associations genes associated with the disease glomerulonephritis, iga; kidney failure, chronic; polycystic kidney diseases in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
insulin resistance; obesity; polycystic ovary syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease insulin resistance; obesity; polycystic ovary syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
hypertension; polycystic kidney, autosomal dominant Gene SetFrom GAD Gene-Disease Associations genes associated with the disease hypertension; polycystic kidney, autosomal dominant in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
glucose tolerance; insulin; polycystic ovary syndrome; androgen levels; anthropometric measuments Gene SetFrom GAD Gene-Disease Associations genes associated with the disease glucose tolerance; insulin; polycystic ovary syndrome; androgen levels; anthropometric measuments in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
polycystic ovary syndrome (pcos) Gene SetFrom GAD Gene-Disease Associations genes associated with the disease polycystic ovary syndrome (pcos) in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
insulin; polycystic ovary syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease insulin; polycystic ovary syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
insulin resistance; polycystic ovary syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease insulin resistance; polycystic ovary syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
glucose tolerance; insulin; polycystic ovary syndrome; hormone disturbance Gene SetFrom GAD Gene-Disease Associations genes associated with the disease glucose tolerance; insulin; polycystic ovary syndrome; hormone disturbance in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
polycystic ovary syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease polycystic ovary syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
obesity; polycystic ovarian syndrome; hyperandrogenism Gene SetFrom GAD Gene-Disease Associations genes associated with the disease obesity; polycystic ovarian syndrome; hyperandrogenism in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
diabetes mellitus, type 2; polycystic ovary syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease diabetes mellitus, type 2; polycystic ovary syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
insulin resistance; metabolic syndrome x; polycystic ovary syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease insulin resistance; metabolic syndrome x; polycystic ovary syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
polycystic ovaries and premature male pattern baldness Gene SetFrom GAD Gene-Disease Associations genes associated with the disease polycystic ovaries and premature male pattern baldness in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
polycystic kidney, autosomal dominant Gene SetFrom GAD Gene-Disease Associations genes associated with the disease polycystic kidney, autosomal dominant in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
polycystic ovary syndrome; premature ovarian failure Gene SetFrom GAD Gene-Disease Associations genes associated with the disease polycystic ovary syndrome; premature ovarian failure in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
polycystic ovary syndrome; testosterone Gene SetFrom GAD Gene-Disease Associations genes associated with the disease polycystic ovary syndrome; testosterone in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
polycystic ovarian disease Gene SetFrom GAD Gene-Disease Associations genes associated with the disease polycystic ovarian disease in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
polycystic ovarian syndrome; insulin resistance Gene SetFrom GAD Gene-Disease Associations genes associated with the disease polycystic ovarian syndrome; insulin resistance in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
obesity; polycystic ovary syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease obesity; polycystic ovary syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
hyperandrogenism; polycystic ovary syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease hyperandrogenism; polycystic ovary syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
body weight; insulin resistance; overweight; polycystic ovary syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease body weight; insulin resistance; overweight; polycystic ovary syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
body mass; insulin; polycystic ovary syndrome; hormone disturbance; sex hormones Gene SetFrom GAD Gene-Disease Associations genes associated with the disease body mass; insulin; polycystic ovary syndrome; hormone disturbance; sex hormones in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
polycystic ovary syndrome. Gene SetFrom GAD Gene-Disease Associations genes associated with the disease polycystic ovary syndrome. in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
polycystic Gene SetFrom GeneRIF Biological Term Annotations genes co-occuring with the biological term polycystic in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset. |
Polycystic Ovary Syndrome_Skeletal muscle_GSE6798 Gene SetFrom GEO Signatures of Differentially Expressed Genes for Diseases genes differentially expressed during Polycystic Ovary Syndrome_Skeletal muscle_GSE6798 disease perturbation from the GEO Signatures of Differentially Expressed Genes for Diseases dataset. |
Polycystic Ovary Syndrome_Adipose tissue_GSE5090 Gene SetFrom GEO Signatures of Differentially Expressed Genes for Diseases genes differentially expressed during Polycystic Ovary Syndrome_Adipose tissue_GSE5090 disease perturbation from the GEO Signatures of Differentially Expressed Genes for Diseases dataset. |
Polycystic ovary syndrome Gene SetFrom GWAS Catalog SNP-Phenotype Associations genes associated with the Polycystic ovary syndrome phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset. |
polycystic ovary syndrome Gene SetFrom GWASdb SNP-Disease Associations genes associated with the disease polycystic ovary syndrome in GWAS and other genetic association datasets from the GWASdb SNP-Disease Associations dataset. |
polycystic ovaries Gene SetFrom GWASdb SNP-Phenotype Associations genes associated with the polycystic ovaries phenotype in GWAS datasets from the GWASdb SNP-Phenotype Associations dataset. |
polycystic liver disease Gene SetFrom HPO Gene-Disease Associations genes associated with the polycystic liver disease phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
polycystic ovaries Gene SetFrom HPO Gene-Disease Associations genes associated with the polycystic ovaries phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
polycystic kidney dysplasia Gene SetFrom HPO Gene-Disease Associations genes associated with the polycystic kidney dysplasia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
Polycystic Kidney, Autosomal Dominant Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Polycystic Kidney, Autosomal Dominant phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
Polycystic Ovary Syndrome Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Polycystic Ovary Syndrome phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
Polycystic Kidney, Autosomal Recessive Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Polycystic Kidney, Autosomal Recessive phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
Polycystic Kidney Diseases Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Polycystic Kidney Diseases phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
Polycystic kidney disease type 2 protein Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Polycystic kidney disease type 2 protein protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Polycystic kidney disease type 1 protein Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Polycystic kidney disease type 1 protein protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
polycystic kidney Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the polycystic kidney phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
polycystic kidney disease 2 Gene SetFrom OMIM Gene-Disease Associations genes associated with the polycystic kidney disease 2 phenotype from the curated OMIM Gene-Disease Associations dataset. |
polycystic kidney disease, adult type i Gene SetFrom OMIM Gene-Disease Associations genes associated with the polycystic kidney disease, adult type i phenotype from the curated OMIM Gene-Disease Associations dataset. |
polycystic kidney and hepatic disease Gene SetFrom OMIM Gene-Disease Associations genes associated with the polycystic kidney and hepatic disease phenotype from the curated OMIM Gene-Disease Associations dataset. |
polycystic liver disease Gene SetFrom OMIM Gene-Disease Associations genes associated with the polycystic liver disease phenotype from the curated OMIM Gene-Disease Associations dataset. |
polycystic ovary syndrome 1 Gene SetFrom OMIM Gene-Disease Associations genes associated with the polycystic ovary syndrome 1 phenotype from the curated OMIM Gene-Disease Associations dataset. |
Polycystic Ovary Syndrome Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Polycystic Ovary Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Autosomal Recessive Polycystic Kidney Disease Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Autosomal Recessive Polycystic Kidney Disease in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Polycystic Kidney Disease Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Polycystic Kidney Disease in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Polycystic Liver Disease Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Polycystic Liver Disease in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Enlarged Polycystic Ovaries Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Enlarged Polycystic Ovaries in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Isolated Polycystic Liver Disease Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Isolated Polycystic Liver Disease in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Polycystic Kidney Disease, Potter Type I, With Microbrachycephaly, Hypertelorism, And Brachymelia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Polycystic Kidney Disease, Potter Type I, With Microbrachycephaly, Hypertelorism, And Brachymelia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Polycystic Kidney - Body Part Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Polycystic Kidney - Body Part in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Sclerosing Polycystic Adenosis Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Sclerosing Polycystic Adenosis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Polycystic Lipomembranous Osteodysplasia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Polycystic Lipomembranous Osteodysplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Adult Type Polycystic Kidney Disease Type 1 Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Adult Type Polycystic Kidney Disease Type 1 in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Serpentine Fibula Polycystic Kidney Syndrome Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Serpentine Fibula Polycystic Kidney Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Polycystic Ovary Syndrome Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Polycystic Ovary Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
polycystic kidney Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the polycystic kidney phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
polycystic kidney Gene SetFrom IMPC Knockout Mouse Phenotypes gene knockouts causing the polycystic kidney phenotype in mic from the IMPC Knockout Mouse Phenotypes dataset. |
Polycystic kidney disease pathway Gene SetFrom WikiPathways Pathways 2024 proteins participating in the Polycystic kidney disease pathway pathway from the WikiPathways Pathways 2024 dataset. |
Polycystic ovary syndrome Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Polycystic ovary syndrome from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Polycystic kidney disease Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Polycystic kidney disease from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Polycystic ovary syndrome Gene SetFrom DISEASES Experimental Gene-Disease Association Evidence Scores 2025 genes associated with the disease Polycystic ovary syndrome in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores 2025 dataset. |
Autosomal recessive polycystic kidney disease Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Autosomal recessive polycystic kidney disease in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Polycystic liver disease Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Polycystic liver disease in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Autosomal dominant polycystic kidney disease Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Autosomal dominant polycystic kidney disease in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Polycystic kidney disease 2 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Polycystic kidney disease 2 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Polycystic ovary syndrome Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Polycystic ovary syndrome in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Polycystic kidney disease Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Polycystic kidney disease in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Polycystic kidney disease 1 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Polycystic kidney disease 1 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Polycystic kidney disease 3 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Polycystic kidney disease 3 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Polycystic echinococcosis Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Polycystic echinococcosis in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Polycystic kidney disease 4 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Polycystic kidney disease 4 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Polycystic kidney disease 5 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Polycystic kidney disease 5 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Polycystic kidney disease Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Polycystic kidney disease phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Polycystic liver disease Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Polycystic liver disease phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Autosomal recessive polycystic kidney disease Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Autosomal recessive polycystic kidney disease phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Autosomal dominant polycystic liver disease Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Autosomal dominant polycystic liver disease phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Polycystic lipomembranous osteodysplasia Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Polycystic lipomembranous osteodysplasia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Autosomal dominant polycystic kidney disease Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Autosomal dominant polycystic kidney disease phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
PKD1-Biallelic Autosomal Recessive Polycystic Kidney disease Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the PKD1-Biallelic Autosomal Recessive Polycystic Kidney disease phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
ALG9-associated autosomal dominant polycystic kidney disease Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the ALG9-associated autosomal dominant polycystic kidney disease phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Polycystic ovary syndrome Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Polycystic ovary syndrome phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Polycystic ovary syndrome (reproductive subtype) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Polycystic ovary syndrome (reproductive subtype) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Polycystic ovary syndrome (metabolic subtype) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Polycystic ovary syndrome (metabolic subtype) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Polycystic ovary syndrome (indeterminate subtype) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Polycystic ovary syndrome (indeterminate subtype) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Polycystic ovary syndrome (adjusted for age) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Polycystic ovary syndrome (adjusted for age) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Polycystic ovary syndrome (adjusted for age and BMI) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Polycystic ovary syndrome (adjusted for age and BMI) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Luteinizing hormone levels in polycystic ovary syndrome Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Luteinizing hormone levels in polycystic ovary syndrome phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Testosterone levels in polycystic ovary syndrome Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Testosterone levels in polycystic ovary syndrome phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Benign familial neonatal-infantile seizures Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Benign familial neonatal-infantile seizures phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Infantile convulsions and paroxysmal choreoathetosis, familial Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Infantile convulsions and paroxysmal choreoathetosis, familial phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Autoinflammation with infantile enterocolitis Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Autoinflammation with infantile enterocolitis phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Galactosialidosis, late infantile Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Galactosialidosis, late infantile phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cerebellar ataxia infantile with progressive external ophthalmoplegia Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cerebellar ataxia infantile with progressive external ophthalmoplegia phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Early infantile epileptic encephalopathy 9 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Early infantile epileptic encephalopathy 9 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Early infantile epileptic encephalopathy 8 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Early infantile epileptic encephalopathy 8 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Early infantile epileptic encephalopathy 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Early infantile epileptic encephalopathy 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Early infantile epileptic encephalopathy 7 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Early infantile epileptic encephalopathy 7 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Early infantile epileptic encephalopathy 5 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Early infantile epileptic encephalopathy 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Early infantile epileptic encephalopathy 4 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Early infantile epileptic encephalopathy 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Carnitine palmitoyltransferase II deficiency, infantile Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Carnitine palmitoyltransferase II deficiency, infantile phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Epileptic encephalopathy, early infantile, 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Epileptic encephalopathy, early infantile, 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Epileptic encephalopathy, early infantile, 23 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Epileptic encephalopathy, early infantile, 23 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Glycogen storage disease type II, infantile Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Glycogen storage disease type II, infantile phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
X-linked infantile nystagmus Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the X-linked infantile nystagmus phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Infantile myofibromatosis 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Infantile myofibromatosis 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Amish infantile epilepsy syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Amish infantile epilepsy syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Early infantile epileptic encephalopathy 18 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Early infantile epileptic encephalopathy 18 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Early infantile epileptic encephalopathy 13 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Early infantile epileptic encephalopathy 13 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Early infantile epileptic encephalopathy 10 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Early infantile epileptic encephalopathy 10 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Early infantile epileptic encephalopathy 17 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Early infantile epileptic encephalopathy 17 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Early infantile epileptic encephalopathy 16 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Early infantile epileptic encephalopathy 16 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Early infantile epileptic encephalopathy 14 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Early infantile epileptic encephalopathy 14 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Infantile liver failure syndrome 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Infantile liver failure syndrome 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Infantile liver failure syndrome 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Infantile liver failure syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Infantile nephronophthisis Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Infantile nephronophthisis phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Galactosialidosis, early infantile Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Galactosialidosis, early infantile phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Pyloric stenosis, infantile hypertrophic, 5 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Pyloric stenosis, infantile hypertrophic, 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Sandhoff disease, infantile Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Sandhoff disease, infantile phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Infantile hypophosphatasia Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Infantile hypophosphatasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Infantile GM1 gangliosidosis Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Infantile GM1 gangliosidosis phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Infantile neuroaxonal dystrophy Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Infantile neuroaxonal dystrophy phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Infantile-onset ascending hereditary spastic paralysis Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Infantile-onset ascending hereditary spastic paralysis phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Metachromatic leukodystrophy, late infantile Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Metachromatic leukodystrophy, late infantile phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Infantile neuroaxonal neurodegeneration with facial dysmorphism Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Infantile neuroaxonal neurodegeneration with facial dysmorphism phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Familial infantile myasthenia Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Familial infantile myasthenia phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Early infantile epileptic encephalopathy 11 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Early infantile epileptic encephalopathy 11 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Liver failure acute infantile Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Liver failure acute infantile phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Epileptic encephalopathy, early infantile, 28 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Epileptic encephalopathy, early infantile, 28 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Epileptic encephalopathy, early infantile, 24 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Epileptic encephalopathy, early infantile, 24 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Epileptic encephalopathy, early infantile, 25 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Epileptic encephalopathy, early infantile, 25 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Epileptic encephalopathy, early infantile, 26 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Epileptic encephalopathy, early infantile, 26 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Epileptic encephalopathy, early infantile, 27 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Epileptic encephalopathy, early infantile, 27 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Epileptic encephalopathy, early infantile, 21 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Epileptic encephalopathy, early infantile, 21 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Infantile Parkinsonism-dystonia Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Infantile Parkinsonism-dystonia phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Sting-associated vasculopathy, infantile-onset Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Sting-associated vasculopathy, infantile-onset phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Autoimmune disease, multisystem, infantile-onset Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Autoimmune disease, multisystem, infantile-onset phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Epileptic encephalopathy, early infantile, 19 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Epileptic encephalopathy, early infantile, 19 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Myoclonic epilepsy, familial infantile Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Myoclonic epilepsy, familial infantile phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Infantile cortical hyperostosis Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Infantile cortical hyperostosis phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Parkinsonism-Dystonia, Infantile Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Parkinsonism-Dystonia, Infantile from the curated CTD Gene-Disease Associations dataset. |
Epileptic Encephalopathy, Early Infantile, 4 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Epileptic Encephalopathy, Early Infantile, 4 from the curated CTD Gene-Disease Associations dataset. |
Epileptic Encephalopathy, Early Infantile, 1 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Epileptic Encephalopathy, Early Infantile, 1 from the curated CTD Gene-Disease Associations dataset. |
Epileptic Encephalopathy, Early Infantile, 2 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Epileptic Encephalopathy, Early Infantile, 2 from the curated CTD Gene-Disease Associations dataset. |
Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency from the curated CTD Gene-Disease Associations dataset. |
Myasthenia, Familial Infantile, 1 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Myasthenia, Familial Infantile, 1 from the curated CTD Gene-Disease Associations dataset. |
Hereditary spastic paralysis, infantile onset ascending Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Hereditary spastic paralysis, infantile onset ascending from the curated CTD Gene-Disease Associations dataset. |
Ceroid lipofuscinosis, neuronal 1, infantile Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Ceroid lipofuscinosis, neuronal 1, infantile from the curated CTD Gene-Disease Associations dataset. |
Infantile polyarteritis Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Infantile polyarteritis from the curated CTD Gene-Disease Associations dataset. |
LIVER FAILURE, INFANTILE, TRANSIENT Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease LIVER FAILURE, INFANTILE, TRANSIENT from the curated CTD Gene-Disease Associations dataset. |
Refsum Disease, Infantile Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Refsum Disease, Infantile from the curated CTD Gene-Disease Associations dataset. |
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7 from the curated CTD Gene-Disease Associations dataset. |
Glaucoma 3, primary infantile, B Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Glaucoma 3, primary infantile, B from the curated CTD Gene-Disease Associations dataset. |
SEIZURES, BENIGN FAMILIAL INFANTILE, 2 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease SEIZURES, BENIGN FAMILIAL INFANTILE, 2 from the curated CTD Gene-Disease Associations dataset. |
Amish Infantile Epilepsy Syndrome Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Amish Infantile Epilepsy Syndrome from the curated CTD Gene-Disease Associations dataset. |
Pyloric Stenosis, Infantile Hypertrophic, 4 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Pyloric Stenosis, Infantile Hypertrophic, 4 from the curated CTD Gene-Disease Associations dataset. |
Pyloric Stenosis, Infantile Hypertrophic, 2 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Pyloric Stenosis, Infantile Hypertrophic, 2 from the curated CTD Gene-Disease Associations dataset. |
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5 from the curated CTD Gene-Disease Associations dataset. |
Hemangioma, capillary infantile Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Hemangioma, capillary infantile from the curated CTD Gene-Disease Associations dataset. |
Striatonigral degeneration infantile Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Striatonigral degeneration infantile from the curated CTD Gene-Disease Associations dataset. |
Pyloric Stenosis, Infantile Hypertrophic, 5 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Pyloric Stenosis, Infantile Hypertrophic, 5 from the curated CTD Gene-Disease Associations dataset. |
Spasms, Infantile Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Spasms, Infantile from the curated CTD Gene-Disease Associations dataset. |
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11 from the curated CTD Gene-Disease Associations dataset. |
Convulsions, Benign Familial Infantile, 4 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Convulsions, Benign Familial Infantile, 4 from the curated CTD Gene-Disease Associations dataset. |
Pyloric Stenosis, Infantile Hypertrophic 1 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Pyloric Stenosis, Infantile Hypertrophic 1 from the curated CTD Gene-Disease Associations dataset. |
Epileptic Encephalopathy, Early Infantile, 3 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Epileptic Encephalopathy, Early Infantile, 3 from the curated CTD Gene-Disease Associations dataset. |
Carnitine Palmitoyltransferase II Deficiency, Infantile Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Carnitine Palmitoyltransferase II Deficiency, Infantile from the curated CTD Gene-Disease Associations dataset. |
Pyloric Stenosis, Infantile Hypertrophic, 3 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Pyloric Stenosis, Infantile Hypertrophic, 3 from the curated CTD Gene-Disease Associations dataset. |
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 12 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 12 from the curated CTD Gene-Disease Associations dataset. |
Hypophosphatasia, Infantile Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Hypophosphatasia, Infantile from the curated CTD Gene-Disease Associations dataset. |
MYOCLONIC EPILEPSY, FAMILIAL INFANTILE Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease MYOCLONIC EPILEPSY, FAMILIAL INFANTILE from the curated CTD Gene-Disease Associations dataset. |
infantile onset spinocerebellar ataxia Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease infantile onset spinocerebellar ataxia from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
infantile onset spinocerebellar ataxia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease infantile onset spinocerebellar ataxia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
benign familial infantile epilepsy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease benign familial infantile epilepsy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
infantile refsum disease Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease infantile refsum disease in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
fatal infantile encephalocardiomyopathy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease fatal infantile encephalocardiomyopathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
seborrheic infantile dermatitis Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease seborrheic infantile dermatitis in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
neurofibromatosis 1; spasms, infantile Gene SetFrom GAD Gene-Disease Associations genes associated with the disease neurofibromatosis 1; spasms, infantile in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
infantile hypophosphatasia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease infantile hypophosphatasia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
infantile hypertrophic pyloric stenosis. Gene SetFrom GAD Gene-Disease Associations genes associated with the disease infantile hypertrophic pyloric stenosis. in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
familial hemiplegic migraine and benign familial infantile convulsions Gene SetFrom GAD Gene-Disease Associations genes associated with the disease familial hemiplegic migraine and benign familial infantile convulsions in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
variant late infantile neuronal ceroid lipofuscinosis. Gene SetFrom GAD Gene-Disease Associations genes associated with the disease variant late infantile neuronal ceroid lipofuscinosis. in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
infantile-onset ascending hereditary spastic paralysis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease infantile-onset ascending hereditary spastic paralysis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
infantile hypertrophic pyloric stenosis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease infantile hypertrophic pyloric stenosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
diarrhea, infantile Gene SetFrom GAD Gene-Disease Associations genes associated with the disease diarrhea, infantile in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
spasms, infantile Gene SetFrom GAD Gene-Disease Associations genes associated with the disease spasms, infantile in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
infantile Gene SetFrom GeneRIF Biological Term Annotations genes co-occuring with the biological term infantile in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset. |
Infantile neuronal ceroid lipofuscinosis_Brain_GSE6678 Gene SetFrom GEO Signatures of Differentially Expressed Genes for Diseases genes differentially expressed during Infantile neuronal ceroid lipofuscinosis_Brain_GSE6678 disease perturbation from the GEO Signatures of Differentially Expressed Genes for Diseases dataset. |
Infantile hypertrophic pyloric stenosis Gene SetFrom GWAS Catalog SNP-Phenotype Associations genes associated with the Infantile hypertrophic pyloric stenosis phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset. |
calcific stippling of infantile cartilaginous skeleton Gene SetFrom HPO Gene-Disease Associations genes associated with the calcific stippling of infantile cartilaginous skeleton phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
infantile onset Gene SetFrom HPO Gene-Disease Associations genes associated with the infantile onset phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
infantile hypercalcemia Gene SetFrom HPO Gene-Disease Associations genes associated with the infantile hypercalcemia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
infantile muscular hypotonia Gene SetFrom HPO Gene-Disease Associations genes associated with the infantile muscular hypotonia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
infantile sensorineural hearing impairment Gene SetFrom HPO Gene-Disease Associations genes associated with the infantile sensorineural hearing impairment phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
infantile encephalopathy Gene SetFrom HPO Gene-Disease Associations genes associated with the infantile encephalopathy phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
infantile spasms Gene SetFrom HPO Gene-Disease Associations genes associated with the infantile spasms phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
infantile axial hypotonia Gene SetFrom HPO Gene-Disease Associations genes associated with the infantile axial hypotonia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
Spasms, Infantile Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Spasms, Infantile phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
Infantile Apparent Life-Threatening Event Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Infantile Apparent Life-Threatening Event phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
Diarrhea, Infantile Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Diarrhea, Infantile phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
pyloric stenosis, infantile hypertrophic, 4 Gene SetFrom OMIM Gene-Disease Associations genes associated with the pyloric stenosis, infantile hypertrophic, 4 phenotype from the curated OMIM Gene-Disease Associations dataset. |
pyloric stenosis, infantile hypertrophic, 5 Gene SetFrom OMIM Gene-Disease Associations genes associated with the pyloric stenosis, infantile hypertrophic, 5 phenotype from the curated OMIM Gene-Disease Associations dataset. |
pyloric stenosis, infantile hypertrophic, 2 Gene SetFrom OMIM Gene-Disease Associations genes associated with the pyloric stenosis, infantile hypertrophic, 2 phenotype from the curated OMIM Gene-Disease Associations dataset. |
pyloric stenosis, infantile hypertrophic, 3 Gene SetFrom OMIM Gene-Disease Associations genes associated with the pyloric stenosis, infantile hypertrophic, 3 phenotype from the curated OMIM Gene-Disease Associations dataset. |
epileptic encephalopathy, early infantile, 2 Gene SetFrom OMIM Gene-Disease Associations genes associated with the epileptic encephalopathy, early infantile, 2 phenotype from the curated OMIM Gene-Disease Associations dataset. |
epileptic encephalopathy, early infantile, 24 Gene SetFrom OMIM Gene-Disease Associations genes associated with the epileptic encephalopathy, early infantile, 24 phenotype from the curated OMIM Gene-Disease Associations dataset. |
epileptic encephalopathy, early infantile, 25 Gene SetFrom OMIM Gene-Disease Associations genes associated with the epileptic encephalopathy, early infantile, 25 phenotype from the curated OMIM Gene-Disease Associations dataset. |
epileptic encephalopathy, early infantile, 26 Gene SetFrom OMIM Gene-Disease Associations genes associated with the epileptic encephalopathy, early infantile, 26 phenotype from the curated OMIM Gene-Disease Associations dataset. |
epileptic encephalopathy, early infantile, 27 Gene SetFrom OMIM Gene-Disease Associations genes associated with the epileptic encephalopathy, early infantile, 27 phenotype from the curated OMIM Gene-Disease Associations dataset. |
epileptic encephalopathy, early infantile, 23 Gene SetFrom OMIM Gene-Disease Associations genes associated with the epileptic encephalopathy, early infantile, 23 phenotype from the curated OMIM Gene-Disease Associations dataset. |
epileptic encephalopathy, early infantile, 5 Gene SetFrom OMIM Gene-Disease Associations genes associated with the epileptic encephalopathy, early infantile, 5 phenotype from the curated OMIM Gene-Disease Associations dataset. |
epileptic encephalopathy, early infantile, 4 Gene SetFrom OMIM Gene-Disease Associations genes associated with the epileptic encephalopathy, early infantile, 4 phenotype from the curated OMIM Gene-Disease Associations dataset. |
epileptic encephalopathy, early infantile, 7 Gene SetFrom OMIM Gene-Disease Associations genes associated with the epileptic encephalopathy, early infantile, 7 phenotype from the curated OMIM Gene-Disease Associations dataset. |
epileptic encephalopathy, early infantile, 1 Gene SetFrom OMIM Gene-Disease Associations genes associated with the epileptic encephalopathy, early infantile, 1 phenotype from the curated OMIM Gene-Disease Associations dataset. |
epileptic encephalopathy, early infantile, 3 Gene SetFrom OMIM Gene-Disease Associations genes associated with the epileptic encephalopathy, early infantile, 3 phenotype from the curated OMIM Gene-Disease Associations dataset. |
epileptic encephalopathy, early infantile, 9 Gene SetFrom OMIM Gene-Disease Associations genes associated with the epileptic encephalopathy, early infantile, 9 phenotype from the curated OMIM Gene-Disease Associations dataset. |
epileptic encephalopathy, early infantile, 8 Gene SetFrom OMIM Gene-Disease Associations genes associated with the epileptic encephalopathy, early infantile, 8 phenotype from the curated OMIM Gene-Disease Associations dataset. |
spinal muscular atrophy, x-linked 2, infantile Gene SetFrom OMIM Gene-Disease Associations genes associated with the spinal muscular atrophy, x-linked 2, infantile phenotype from the curated OMIM Gene-Disease Associations dataset. |
seizures, benign familial infantile, 4 Gene SetFrom OMIM Gene-Disease Associations genes associated with the seizures, benign familial infantile, 4 phenotype from the curated OMIM Gene-Disease Associations dataset. |
seizures, benign familial infantile, 1 Gene SetFrom OMIM Gene-Disease Associations genes associated with the seizures, benign familial infantile, 1 phenotype from the curated OMIM Gene-Disease Associations dataset. |
seizures, benign familial infantile, 2 Gene SetFrom OMIM Gene-Disease Associations genes associated with the seizures, benign familial infantile, 2 phenotype from the curated OMIM Gene-Disease Associations dataset. |
seizures, benign familial infantile, 3 Gene SetFrom OMIM Gene-Disease Associations genes associated with the seizures, benign familial infantile, 3 phenotype from the curated OMIM Gene-Disease Associations dataset. |
amish infantile epilepsy syndrome Gene SetFrom OMIM Gene-Disease Associations genes associated with the amish infantile epilepsy syndrome phenotype from the curated OMIM Gene-Disease Associations dataset. |
hypertriglyceridemia, transient infantile Gene SetFrom OMIM Gene-Disease Associations genes associated with the hypertriglyceridemia, transient infantile phenotype from the curated OMIM Gene-Disease Associations dataset. |
liver failure, transient infantile Gene SetFrom OMIM Gene-Disease Associations genes associated with the liver failure, transient infantile phenotype from the curated OMIM Gene-Disease Associations dataset. |
?myofibromatosis, infantile 2 Gene SetFrom OMIM Gene-Disease Associations genes associated with the ?myofibromatosis, infantile 2 phenotype from the curated OMIM Gene-Disease Associations dataset. |
hypercalcemia, infantile Gene SetFrom OMIM Gene-Disease Associations genes associated with the hypercalcemia, infantile phenotype from the curated OMIM Gene-Disease Associations dataset. |
nephronophthisis 2, infantile Gene SetFrom OMIM Gene-Disease Associations genes associated with the nephronophthisis 2, infantile phenotype from the curated OMIM Gene-Disease Associations dataset. |
myofibromatosis, infantile, 1 Gene SetFrom OMIM Gene-Disease Associations genes associated with the myofibromatosis, infantile, 1 phenotype from the curated OMIM Gene-Disease Associations dataset. |
neuroaxonal neurodegeneration, infantile, with facial dysmophism Gene SetFrom OMIM Gene-Disease Associations genes associated with the neuroaxonal neurodegeneration, infantile, with facial dysmophism phenotype from the curated OMIM Gene-Disease Associations dataset. |
parkinsonism-dystonia, infantile Gene SetFrom OMIM Gene-Disease Associations genes associated with the parkinsonism-dystonia, infantile phenotype from the curated OMIM Gene-Disease Associations dataset. |
sting-associated vasculopathy, infantile-onset Gene SetFrom OMIM Gene-Disease Associations genes associated with the sting-associated vasculopathy, infantile-onset phenotype from the curated OMIM Gene-Disease Associations dataset. |
?infantile liver failure syndrome 2 Gene SetFrom OMIM Gene-Disease Associations genes associated with the ?infantile liver failure syndrome 2 phenotype from the curated OMIM Gene-Disease Associations dataset. |
?infantile liver failure syndrome 1 Gene SetFrom OMIM Gene-Disease Associations genes associated with the ?infantile liver failure syndrome 1 phenotype from the curated OMIM Gene-Disease Associations dataset. |
epileptic encephalopathy, early infantile, 14 Gene SetFrom OMIM Gene-Disease Associations genes associated with the epileptic encephalopathy, early infantile, 14 phenotype from the curated OMIM Gene-Disease Associations dataset. |
epileptic encephalopathy, early infantile, 17 Gene SetFrom OMIM Gene-Disease Associations genes associated with the epileptic encephalopathy, early infantile, 17 phenotype from the curated OMIM Gene-Disease Associations dataset. |
myasthenia, familial infantile, 1 Gene SetFrom OMIM Gene-Disease Associations genes associated with the myasthenia, familial infantile, 1 phenotype from the curated OMIM Gene-Disease Associations dataset. |
epileptic encephalopathy, early infantile, 15 Gene SetFrom OMIM Gene-Disease Associations genes associated with the epileptic encephalopathy, early infantile, 15 phenotype from the curated OMIM Gene-Disease Associations dataset. |
epileptic encephalopathy, early infantile, 16 Gene SetFrom OMIM Gene-Disease Associations genes associated with the epileptic encephalopathy, early infantile, 16 phenotype from the curated OMIM Gene-Disease Associations dataset. |
epileptic encephalopathy, early infantile, 11 Gene SetFrom OMIM Gene-Disease Associations genes associated with the epileptic encephalopathy, early infantile, 11 phenotype from the curated OMIM Gene-Disease Associations dataset. |
epileptic encephalopathy, early infantile, 13 Gene SetFrom OMIM Gene-Disease Associations genes associated with the epileptic encephalopathy, early infantile, 13 phenotype from the curated OMIM Gene-Disease Associations dataset. |
epileptic encephalopathy, early infantile, 12 Gene SetFrom OMIM Gene-Disease Associations genes associated with the epileptic encephalopathy, early infantile, 12 phenotype from the curated OMIM Gene-Disease Associations dataset. |
epileptic encephalopathy, early infantile, 19 Gene SetFrom OMIM Gene-Disease Associations genes associated with the epileptic encephalopathy, early infantile, 19 phenotype from the curated OMIM Gene-Disease Associations dataset. |
epileptic encephalopathy, early infantile, 18 Gene SetFrom OMIM Gene-Disease Associations genes associated with the epileptic encephalopathy, early infantile, 18 phenotype from the curated OMIM Gene-Disease Associations dataset. |
{hemangioma, capillary infantile, susceptibility to} Gene SetFrom OMIM Gene-Disease Associations genes associated with the {hemangioma, capillary infantile, susceptibility to} phenotype from the curated OMIM Gene-Disease Associations dataset. |
nystagmus, infantile periodic alternating, x-linked Gene SetFrom OMIM Gene-Disease Associations genes associated with the nystagmus, infantile periodic alternating, x-linked phenotype from the curated OMIM Gene-Disease Associations dataset. |
hemangioma, capillary infantile, somatic Gene SetFrom OMIM Gene-Disease Associations genes associated with the hemangioma, capillary infantile, somatic phenotype from the curated OMIM Gene-Disease Associations dataset. |
infantile neuroaxonal dystrophy 1 Gene SetFrom OMIM Gene-Disease Associations genes associated with the infantile neuroaxonal dystrophy 1 phenotype from the curated OMIM Gene-Disease Associations dataset. |
myoclonic epilepsy, infantile, familial Gene SetFrom OMIM Gene-Disease Associations genes associated with the myoclonic epilepsy, infantile, familial phenotype from the curated OMIM Gene-Disease Associations dataset. |
?epileptic encephalopathy, early infantile, 21 Gene SetFrom OMIM Gene-Disease Associations genes associated with the ?epileptic encephalopathy, early infantile, 21 phenotype from the curated OMIM Gene-Disease Associations dataset. |
hypophosphatasia, infantile Gene SetFrom OMIM Gene-Disease Associations genes associated with the hypophosphatasia, infantile phenotype from the curated OMIM Gene-Disease Associations dataset. |
myopathy, myofibrillar, fatal infantile hypertrophy, alpha-b crystallin-related Gene SetFrom OMIM Gene-Disease Associations genes associated with the myopathy, myofibrillar, fatal infantile hypertrophy, alpha-b crystallin-related phenotype from the curated OMIM Gene-Disease Associations dataset. |
cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 Gene SetFrom OMIM Gene-Disease Associations genes associated with the cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 phenotype from the curated OMIM Gene-Disease Associations dataset. |
cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 Gene SetFrom OMIM Gene-Disease Associations genes associated with the cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 phenotype from the curated OMIM Gene-Disease Associations dataset. |
juvenile polyposis syndrome, infantile form Gene SetFrom OMIM Gene-Disease Associations genes associated with the juvenile polyposis syndrome, infantile form phenotype from the curated OMIM Gene-Disease Associations dataset. |
infantile cerebellar-retinal degeneration Gene SetFrom OMIM Gene-Disease Associations genes associated with the infantile cerebellar-retinal degeneration phenotype from the curated OMIM Gene-Disease Associations dataset. |
sandhoff disease, infantile, juvenile, and adult forms Gene SetFrom OMIM Gene-Disease Associations genes associated with the sandhoff disease, infantile, juvenile, and adult forms phenotype from the curated OMIM Gene-Disease Associations dataset. |
sialic acid storage disorder, infantile Gene SetFrom OMIM Gene-Disease Associations genes associated with the sialic acid storage disorder, infantile phenotype from the curated OMIM Gene-Disease Associations dataset. |
autoinflammation with infantile enterocolitis Gene SetFrom OMIM Gene-Disease Associations genes associated with the autoinflammation with infantile enterocolitis phenotype from the curated OMIM Gene-Disease Associations dataset. |
autoimmune disease, multisystem, infantile-onset Gene SetFrom OMIM Gene-Disease Associations genes associated with the autoimmune disease, multisystem, infantile-onset phenotype from the curated OMIM Gene-Disease Associations dataset. |
convulsions, familial infantile, with paroxysmal choreoathetosis Gene SetFrom OMIM Gene-Disease Associations genes associated with the convulsions, familial infantile, with paroxysmal choreoathetosis phenotype from the curated OMIM Gene-Disease Associations dataset. |
striatonigral degeneration, infantile Gene SetFrom OMIM Gene-Disease Associations genes associated with the striatonigral degeneration, infantile phenotype from the curated OMIM Gene-Disease Associations dataset. |
glaucoma 3, primary infantile, b Gene SetFrom OMIM Gene-Disease Associations genes associated with the glaucoma 3, primary infantile, b phenotype from the curated OMIM Gene-Disease Associations dataset. |
spastic paralysis, infantile onset ascending Gene SetFrom OMIM Gene-Disease Associations genes associated with the spastic paralysis, infantile onset ascending phenotype from the curated OMIM Gene-Disease Associations dataset. |
Defective CYP24A1 causes Hypercalcemia, infantile (HCAI) Gene Setproteins participating in the Defective CYP24A1 causes Hypercalcemia, infantile (HCAI) pathway from the Reactome Pathways dataset. |
Infantile Cardiomyopathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Infantile Cardiomyopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Infantile Spasm Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Infantile Spasm in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Infantile Nystagmus Syndrome Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Infantile Nystagmus Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Infantile Myofibromatosis Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Infantile Myofibromatosis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Late-Infantile Neuronal Ceroid Lipfuscinosis Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Late-Infantile Neuronal Ceroid Lipfuscinosis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Infantile Hemangioma Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Infantile Hemangioma in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Infantile Cerebellar-Retinal Degeneration Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Infantile Cerebellar-Retinal Degeneration in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Acute Infantile Spinal Muscular Atrophy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Acute Infantile Spinal Muscular Atrophy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Infantile Scurvy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Infantile Scurvy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Autoimmune Disease, Multisystem, Infantile-Onset, 1 Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Autoimmune Disease, Multisystem, Infantile-Onset, 1 in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Autoimmune Disease, Multisystem, Infantile-Onset, 2 Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Autoimmune Disease, Multisystem, Infantile-Onset, 2 in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Chronic Infantile Neurological, Cutaneous, And Articular Syndrome Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Chronic Infantile Neurological, Cutaneous, And Articular Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Early Infantile Epileptic Encephalopathy With Suppression Bursts Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Early Infantile Epileptic Encephalopathy With Suppression Bursts in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Infantile Hypophosphatasia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Infantile Hypophosphatasia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Hereditary Spastic Paralysis, Infantile Onset Ascending Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Hereditary Spastic Paralysis, Infantile Onset Ascending in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Infantile Uterus Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Infantile Uterus in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Hemangioma, Capillary Infantile Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Hemangioma, Capillary Infantile in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Cryptogenic Infantile Spasms Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Cryptogenic Infantile Spasms in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Refractory Infantile Spasms Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Refractory Infantile Spasms in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Infantile Neuroaxonal Dystrophy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Infantile Neuroaxonal Dystrophy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Infantile Neuronal Ceroid Lipofuscinosis Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Infantile Neuronal Ceroid Lipofuscinosis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Striatonigral Degeneration, Infantile, Mitochondrial Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Striatonigral Degeneration, Infantile, Mitochondrial in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Infantile Malignant Osteopetrosis Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Infantile Malignant Osteopetrosis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Endemic Tyrolean Infantile Cirrhosis Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Endemic Tyrolean Infantile Cirrhosis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Amish Infantile Epilepsy Syndrome Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Amish Infantile Epilepsy Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Infantile Fibrosarcoma Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Infantile Fibrosarcoma in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Necrotizing Encephalopathy, Infantile Subacute, Of Leigh Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Necrotizing Encephalopathy, Infantile Subacute, Of Leigh in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Desmoplastic Infantile Astrocytoma Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Desmoplastic Infantile Astrocytoma in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Desmoplastic Infantile Ganglioglioma Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Desmoplastic Infantile Ganglioglioma in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
X-Linked Infantile Nystagmus Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease X-Linked Infantile Nystagmus in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Infantile Refsum Disease (Disorder) Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Infantile Refsum Disease (Disorder) in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Familial Infantile Myasthenia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Familial Infantile Myasthenia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Infantile Onset Spinocerebellar Ataxia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Infantile Onset Spinocerebellar Ataxia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Myasthenia, Familial Infantile, 1 Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Myasthenia, Familial Infantile, 1 in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Cardioencephalomyopathy, Fatal Infantile, Due To Cytochrome C Oxidase Deficiency Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Cardioencephalomyopathy, Fatal Infantile, Due To Cytochrome C Oxidase Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Symptomatic Infantile Spasms Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Symptomatic Infantile Spasms in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Infantile Cataract Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Infantile Cataract in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Cystinosis, Infantile Nephropathic Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Cystinosis, Infantile Nephropathic in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Idiopathic Infantile Hypercalcemia - Mild Form Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Idiopathic Infantile Hypercalcemia - Mild Form in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Infantile Fibromatosis Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Infantile Fibromatosis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Fastkd2-Related Infantile Mitochondrial Encephalomyopathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Fastkd2-Related Infantile Mitochondrial Encephalomyopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Infantile Atopic Dermatitis Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Infantile Atopic Dermatitis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Infantile Globoid Cell Leukodystrophy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Infantile Globoid Cell Leukodystrophy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Infantile Sialic Acid Storage Disease Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Infantile Sialic Acid Storage Disease in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Infantile Sandhoff Disease Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Infantile Sandhoff Disease in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Sting-Associated Vasculopathy, Infantile-Onset Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Sting-Associated Vasculopathy, Infantile-Onset in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Infantile Digital Fibromatosis Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Infantile Digital Fibromatosis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Infantile Liver Failure Syndrome Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Infantile Liver Failure Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Late Infantile Neuroaxonal Dystrophy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Late Infantile Neuroaxonal Dystrophy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Infantile Constant Exotropia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Infantile Constant Exotropia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Infantile Gm 2 Gangliosidosis Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Infantile Gm 2 Gangliosidosis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Benign Infantile Myoclonic Epilepsy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Benign Infantile Myoclonic Epilepsy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Diplegic Infantile Cerebral Palsy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Diplegic Infantile Cerebral Palsy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Infantile Apnea Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Infantile Apnea in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Monoplegic Infantile Cerebral Palsy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Monoplegic Infantile Cerebral Palsy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Infantile Convulsions And Paroxysmal Choreoathetosis, Familial (Disorder) Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Infantile Convulsions And Paroxysmal Choreoathetosis, Familial (Disorder) in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Infantile Gastroenteritis Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Infantile Gastroenteritis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Infantile Paralysis Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Infantile Paralysis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Early Infantile Epileptic Encephalopathy, Refractory Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Early Infantile Epileptic Encephalopathy, Refractory in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Fatal Infantile Mitochondrial Cardiomyopathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Fatal Infantile Mitochondrial Cardiomyopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Infantile Free Sialic Acid Storage Disease Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Infantile Free Sialic Acid Storage Disease in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Infantile Asthma Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Infantile Asthma in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Desmoplastic Infantile Astrocytoma And Ganglioglioma Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Desmoplastic Infantile Astrocytoma And Ganglioglioma in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Liver Failure, Infantile, Transient Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Liver Failure, Infantile, Transient in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Infantile Muscular Hypotonia Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Infantile Muscular Hypotonia in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Infantile Diarrhea Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Infantile Diarrhea in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Infantile Nystagmus Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Infantile Nystagmus in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Infantile Obesity Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Infantile Obesity in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Infantile Axial Hypotonia Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Infantile Axial Hypotonia in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Hemangioma, Capillary Infantile, Somatic Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Hemangioma, Capillary Infantile, Somatic in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Infantile Colic Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Infantile Colic in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Infantile Sensorineural Hearing Impairment Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Infantile Sensorineural Hearing Impairment in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Defective SLC6A3 causes Parkinsonism-dystonia infantile (PKDYS)_5619081 Gene Setproteins participating in the Defective SLC6A3 causes Parkinsonism-dystonia infantile (PKDYS)_5619081 pathway from the Reactome Pathways 2024 dataset. |
Defective SLC6A3 causes Parkinsonism-dystonia infantile (PKDYS)_5660724 Gene Setproteins participating in the Defective SLC6A3 causes Parkinsonism-dystonia infantile (PKDYS)_5660724 pathway from the Reactome Pathways 2024 dataset. |
COX deficiency, infantile mitochondrial myopathy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease COX deficiency, infantile mitochondrial myopathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Infantile hypertrophic cardiomyopathy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Infantile hypertrophic cardiomyopathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Early infantile epileptic encephalopathy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Early infantile epileptic encephalopathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Infantile liver failure syndrome Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Infantile liver failure syndrome in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Fatal infantile hypertonic myofibrillar myopathy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Fatal infantile hypertonic myofibrillar myopathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Infantile Refsum disease Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Infantile Refsum disease in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Benign familial infantile seizures 3 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Benign familial infantile seizures 3 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Benign familial infantile epilepsy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Benign familial infantile epilepsy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Infantile parkinsonism-dystonia 2 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Infantile parkinsonism-dystonia 2 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Infantile hypophosphatasia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Infantile hypophosphatasia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Seborrheic infantile dermatitis Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Seborrheic infantile dermatitis in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
COX deficiency, benign infantile mitochondrial myopathy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease COX deficiency, benign infantile mitochondrial myopathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Infantile cerebellar-retinal degeneration Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Infantile cerebellar-retinal degeneration in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Infantile myofibromatosis Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Infantile myofibromatosis in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Benign familial infantile seizures 2 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Benign familial infantile seizures 2 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Transient infantile liver failure Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Transient infantile liver failure in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Benign familial infantile seizures 5 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Benign familial infantile seizures 5 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Infantile hypotonia with psychomotor retardation and characteristic facies-3 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Infantile hypotonia with psychomotor retardation and characteristic facies-3 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Infantile histiocytoid cardiomyopathy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Infantile histiocytoid cardiomyopathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Infantile liver failure syndrome 1 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Infantile liver failure syndrome 1 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Infantile GM1 gangliosidosis Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Infantile GM1 gangliosidosis phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Late-infantile neuronal ceroid lipofuscinosis Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Late-infantile neuronal ceroid lipofuscinosis phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Familial infantile myasthenia Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Familial infantile myasthenia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Chronic infantile neurological Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Chronic infantile neurological phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Infantile-onset ascending hereditary spastic paralysis Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Infantile-onset ascending hereditary spastic paralysis phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Infantile onset spinocerebellar ataxia Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Infantile onset spinocerebellar ataxia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Infantile neuroaxonal dystrophy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Infantile neuroaxonal dystrophy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Infantile epilepsy syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Infantile epilepsy syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Neonatal/infantile epilepsy syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Neonatal/infantile epilepsy syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Infantile nephronophthisis Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Infantile nephronophthisis phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Capillary infantile hemangioma Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Capillary infantile hemangioma phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Benign familial infantile epilepsy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Benign familial infantile epilepsy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Benign sporadic infantile epilepsy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Benign sporadic infantile epilepsy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Infantile hypophosphatasia Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Infantile hypophosphatasia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
LAMB2-related infantile-onset nephrotic syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the LAMB2-related infantile-onset nephrotic syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Infantile cortical hyperostosis Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Infantile cortical hyperostosis phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Infantile cerebral and cerebellar atrophy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Infantile cerebral and cerebellar atrophy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Infantile nephropathic cystinosis Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Infantile nephropathic cystinosis phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Infantile spasms Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Infantile spasms phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Infantile convulsions and choreoathetosis Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Infantile convulsions and choreoathetosis phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Fatal infantile hypertonic myofibrillar myopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Fatal infantile hypertonic myofibrillar myopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Infantile myofibromatosis Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Infantile myofibromatosis phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Infantile Nephrotic syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Infantile Nephrotic syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Self-limited familial infantile epilepsy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Self-limited familial infantile epilepsy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Infantile cerebellar-retinal degeneration Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Infantile cerebellar-retinal degeneration phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Infantile bilateral striatal necrosis Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Infantile bilateral striatal necrosis phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Early Infantile Epileptic Encephalopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Early Infantile Epileptic Encephalopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Familial infantile myoclonic epilepsy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Familial infantile myoclonic epilepsy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Fatal Infantile Cardioencephalomyopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Fatal Infantile Cardioencephalomyopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Infantile liver failure syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Infantile liver failure syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Periodic fever-infantile enterocolitis-autoinflammatory syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Infantile osteopetrosis Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Infantile osteopetrosis phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Syndromic Infantile Encephalopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Syndromic Infantile Encephalopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Infantile encephalopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Infantile encephalopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Infantile-onset X-linked spinal muscular atrophy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Infantile-onset X-linked spinal muscular atrophy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Infantile hypercalcemia Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Infantile hypercalcemia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
IL21-related infantile inflammatory bowel disease Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the IL21-related infantile inflammatory bowel disease phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Infantile epileptic dyskinetic encephalopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Infantile epileptic dyskinetic encephalopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Infantile or childhood onset neurodegenerative disease Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Infantile or childhood onset neurodegenerative disease phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Infantile liver failure Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Infantile liver failure phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Infantile-onset generalized dyskinesia Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Infantile-onset generalized dyskinesia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Autosomal recessive infantile hypercalcemia Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Autosomal recessive infantile hypercalcemia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Transient infantile hypertriglyceridemia and hepatosteatosis Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Transient infantile hypertriglyceridemia and hepatosteatosis phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Episodic kinesigenic dyskinesia and familial infantile convulsions Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Episodic kinesigenic dyskinesia and familial infantile convulsions phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Familial infantile bilateral striatal necrosis Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Familial infantile bilateral striatal necrosis phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Infantile hypertrophic pyloric stenosis Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Infantile hypertrophic pyloric stenosis phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
X-linked severe combined immunodeficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the X-linked severe combined immunodeficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Myopathy, reducing body, X-linked, early-onset, severe Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Myopathy, reducing body, X-linked, early-onset, severe phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Severe combined immunodeficiency due to ADA deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Severe combined immunodeficiency due to ADA deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hypertelorism, severe, with midface prominence, myopia, mental retardation, and bone fragility Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hypertelorism, severe, with midface prominence, myopia, mental retardation, and bone fragility phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Immunodeficiency 18, severe combined immunodeficiency variant Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Immunodeficiency 18, severe combined immunodeficiency variant phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hyperparathyroidism, neonatal severe Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hyperparathyroidism, neonatal severe phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Severe congenital neutropenia Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Severe congenital neutropenia phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Severe autosomal recessive muscular dystrophy of childhood - North African type Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Severe autosomal recessive muscular dystrophy of childhood - North African type phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Severe congenital neutropenia 3, autosomal recessive Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Severe congenital neutropenia 3, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Severe congenital neutropenia X-linked Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Severe congenital neutropenia X-linked phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Ulna and fibula absence of with severe limb deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Ulna and fibula absence of with severe limb deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Severe X-linked myotubular myopathy Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Severe X-linked myotubular myopathy phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Severe congenital neutropenia 6, autosomal recessive Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Severe congenital neutropenia 6, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Severe combined immunodeficiency, atypical Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Severe combined immunodeficiency, atypical phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE I, SEVERE Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE I, SEVERE phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
MUCOPOLYSACCHARIDOSIS, TYPE VI, SEVERE Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the MUCOPOLYSACCHARIDOSIS, TYPE VI, SEVERE phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Severe combined immunodeficiency disease Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Severe combined immunodeficiency disease phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Severe combined immunodeficiency with sensitivity to ionizing radiation Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Severe combined immunodeficiency with sensitivity to ionizing radiation phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Severe congenital neutropenia autosomal dominant Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Severe congenital neutropenia autosomal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Severe congenital neutropenia 2, autosomal dominant Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Severe congenital neutropenia 2, autosomal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Severe congenital neutropenia 4, autosomal recessive Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Severe congenital neutropenia 4, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Severe myoclonic epilepsy in infancy Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Severe myoclonic epilepsy in infancy phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Retinal dystrophy, early-onset severe Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Retinal dystrophy, early-onset severe phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Obesity, severe, due to leptin deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Obesity, severe, due to leptin deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC, SEVERE Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC, SEVERE phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, NK Cell-Negative Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, NK Cell-Negative from the curated CTD Gene-Disease Associations dataset. |
Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation from the curated CTD Gene-Disease Associations dataset. |
Hyperparathyroidism, Neonatal Severe Primary Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Hyperparathyroidism, Neonatal Severe Primary from the curated CTD Gene-Disease Associations dataset. |
Severe Combined Immunodeficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Severe Combined Immunodeficiency from the curated CTD Gene-Disease Associations dataset. |
Severe Dengue Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Severe Dengue from the curated CTD Gene-Disease Associations dataset. |
Abnormalities, Severe Teratoid Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Abnormalities, Severe Teratoid from the curated CTD Gene-Disease Associations dataset. |
Neutropenia, Severe Congenital, Autosomal Dominant 2 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Neutropenia, Severe Congenital, Autosomal Dominant 2 from the curated CTD Gene-Disease Associations dataset. |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, NK Cell-Positive Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, NK Cell-Positive from the curated CTD Gene-Disease Associations dataset. |
Severe combined immunodeficiency due to adenosine deaminase deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Severe combined immunodeficiency due to adenosine deaminase deficiency from the curated CTD Gene-Disease Associations dataset. |
Severe Acute Respiratory Syndrome Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Severe Acute Respiratory Syndrome from the curated CTD Gene-Disease Associations dataset. |
Hypertension, Early-Onset, Autosomal Dominant, with Severe Exacerbation in Pregnancy Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Hypertension, Early-Onset, Autosomal Dominant, with Severe Exacerbation in Pregnancy from the curated CTD Gene-Disease Associations dataset. |
Neutropenia, Severe Congenital, Autosomal Dominant 1 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Neutropenia, Severe Congenital, Autosomal Dominant 1 from the curated CTD Gene-Disease Associations dataset. |
HEPATIC FIBROSIS, SEVERE, SUSCEPTIBILITY TO, DUE TO SCHISTOSOMA MANSONI INFECTION Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease HEPATIC FIBROSIS, SEVERE, SUSCEPTIBILITY TO, DUE TO SCHISTOSOMA MANSONI INFECTION from the curated CTD Gene-Disease Associations dataset. |
Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations from the curated CTD Gene-Disease Associations dataset. |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell Negative, B Cell Positive, NK Cell Positive Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Severe Combined Immunodeficiency, Autosomal Recessive, T Cell Negative, B Cell Positive, NK Cell Positive from the curated CTD Gene-Disease Associations dataset. |
Severe combined immunodeficiency with sensitivity to ionizing radiation Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Severe combined immunodeficiency with sensitivity to ionizing radiation from the curated CTD Gene-Disease Associations dataset. |
Neutropenia, Severe Congenital, X-Linked Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Neutropenia, Severe Congenital, X-Linked from the curated CTD Gene-Disease Associations dataset. |
Cutis Laxa With Severe Pulmonary, Gastrointestinal, And Urinary Abnormalities Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Cutis Laxa With Severe Pulmonary, Gastrointestinal, And Urinary Abnormalities from the curated CTD Gene-Disease Associations dataset. |
Alpha/Beta T-Cell Lymphopenia with Gamma/Delta T-Cell Expansion, Severe Cytomegalovirus Infection, and Autoimmunity Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Alpha/Beta T-Cell Lymphopenia with Gamma/Delta T-Cell Expansion, Severe Cytomegalovirus Infection, and Autoimmunity from the curated CTD Gene-Disease Associations dataset. |
Mental Retardation, Severe, With Spasticity And Pigmentary Tapetoretinal Degeneration Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Mental Retardation, Severe, With Spasticity And Pigmentary Tapetoretinal Degeneration from the curated CTD Gene-Disease Associations dataset. |
Myopathy, Reducing Body, X-Linked, Early-Onset, Severe Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Myopathy, Reducing Body, X-Linked, Early-Onset, Severe from the curated CTD Gene-Disease Associations dataset. |
Neutropenia, Severe Congenital, Autosomal Recessive 3 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Neutropenia, Severe Congenital, Autosomal Recessive 3 from the curated CTD Gene-Disease Associations dataset. |
Neutropenia, Severe Congenital, Autosomal Recessive 4 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Neutropenia, Severe Congenital, Autosomal Recessive 4 from the curated CTD Gene-Disease Associations dataset. |
severe combined immunodeficiency Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease severe combined immunodeficiency from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
severe congenital neutropenia Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease severe congenital neutropenia from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
severe acute respiratory syndrome Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease severe acute respiratory syndrome in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
severe congenital neutropenia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease severe congenital neutropenia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
severe nonproliferative diabetic retinopathy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease severe nonproliferative diabetic retinopathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
severe combined immunodeficiency Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease severe combined immunodeficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
severe pre-eclampsia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease severe pre-eclampsia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
severe type iii hyperlipoproteinemia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease severe type iii hyperlipoproteinemia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
hyper-ige syndrome and severe eczema. atopy Gene SetFrom GAD Gene-Disease Associations genes associated with the disease hyper-ige syndrome and severe eczema. atopy in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
severe acute respiratory syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease severe acute respiratory syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
severe trauma. mortality Gene SetFrom GAD Gene-Disease Associations genes associated with the disease severe trauma. mortality in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
severe childhood thrombosis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease severe childhood thrombosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
sars (severe acute respiratory syndrome) Gene SetFrom GAD Gene-Disease Associations genes associated with the disease sars (severe acute respiratory syndrome) in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
hyper-ige syndrome. severe eczema. atopy Gene SetFrom GAD Gene-Disease Associations genes associated with the disease hyper-ige syndrome. severe eczema. atopy in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
severe desmoid phenotype Gene SetFrom GAD Gene-Disease Associations genes associated with the disease severe desmoid phenotype in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
mild and severe substance abuse Gene SetFrom GAD Gene-Disease Associations genes associated with the disease mild and severe substance abuse in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
severe malaria Gene SetFrom GAD Gene-Disease Associations genes associated with the disease severe malaria in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
communicable diseases; severe acute respiratory syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease communicable diseases; severe acute respiratory syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
anoxemia; anoxia; pneumonia, viral; severe acute respiratory syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease anoxemia; anoxia; pneumonia, viral; severe acute respiratory syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
severe acute radiotherapy side effects Gene SetFrom GAD Gene-Disease Associations genes associated with the disease severe acute radiotherapy side effects in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
severe hyperkinetic disorders Gene SetFrom GAD Gene-Disease Associations genes associated with the disease severe hyperkinetic disorders in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
severe sepsis in blunt trauma Gene SetFrom GAD Gene-Disease Associations genes associated with the disease severe sepsis in blunt trauma in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
adult respiratory distress syndrome; respiratory distress syndrome, adult; severe acute respiratory syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease adult respiratory distress syndrome; respiratory distress syndrome, adult; severe acute respiratory syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
lymphopenia; scid; severe combined immunodeficiency Gene SetFrom GAD Gene-Disease Associations genes associated with the disease lymphopenia; scid; severe combined immunodeficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
severe ulcerative colitis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease severe ulcerative colitis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
severe sepsis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease severe sepsis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
bone necrosis; osteonecrosis; severe acute respiratory syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease bone necrosis; osteonecrosis; severe acute respiratory syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
severe chronic neutropenia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease severe chronic neutropenia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
x-linked severe combined immunodeficiency Gene SetFrom GAD Gene-Disease Associations genes associated with the disease x-linked severe combined immunodeficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
severe rsv bronchiolitis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease severe rsv bronchiolitis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
outcome after severe injury Gene SetFrom GAD Gene-Disease Associations genes associated with the disease outcome after severe injury in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
femur head necrosis; pulmonary fibrosis; severe acute respiratory syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease femur head necrosis; pulmonary fibrosis; severe acute respiratory syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
severe sepsis after trauma Gene SetFrom GAD Gene-Disease Associations genes associated with the disease severe sepsis after trauma in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
immunologic deficiency syndromes; severe combined immunodeficiency Gene SetFrom GAD Gene-Disease Associations genes associated with the disease immunologic deficiency syndromes; severe combined immunodeficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
severe photoaging of facial skin Gene SetFrom GAD Gene-Disease Associations genes associated with the disease severe photoaging of facial skin in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
severe Gene SetFrom GeneRIF Biological Term Annotations genes co-occuring with the biological term severe in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset. |
Severe acute respiratory syndrome (SARS)_Peripheral blood mononuclear cell_GSE1739 Gene SetFrom GEO Signatures of Differentially Expressed Genes for Diseases genes differentially expressed during Severe acute respiratory syndrome (SARS)_Peripheral blood mononuclear cell_GSE1739 disease perturbation from the GEO Signatures of Differentially Expressed Genes for Diseases dataset. |
SCID - Severe combined immunodeficiency_Lung Tissue_GSE3414 Gene SetFrom GEO Signatures of Differentially Expressed Genes for Diseases genes differentially expressed during SCID - Severe combined immunodeficiency_Lung Tissue_GSE3414 disease perturbation from the GEO Signatures of Differentially Expressed Genes for Diseases dataset. |
Treatment response for severe sepsis Gene SetFrom GWAS Catalog SNP-Phenotype Associations genes associated with the Treatment response for severe sepsis phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset. |
Acne (severe) Gene SetFrom GWAS Catalog SNP-Phenotype Associations genes associated with the Acne (severe) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset. |
Chronic obstructive pulmonary disease (severe) Gene SetFrom GWAS Catalog SNP-Phenotype Associations genes associated with the Chronic obstructive pulmonary disease (severe) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset. |
Myopia (severe) Gene SetFrom GWAS Catalog SNP-Phenotype Associations genes associated with the Myopia (severe) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset. |
Chronic obstructive pulmonary disease (moderate to severe) Gene SetFrom GWAS Catalog SNP-Phenotype Associations genes associated with the Chronic obstructive pulmonary disease (moderate to severe) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset. |
Asthma (childhood, severe) Gene SetFrom GWAS Catalog SNP-Phenotype Associations genes associated with the Asthma (childhood, severe) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset. |
severe osteoporosis Gene SetFrom HPO Gene-Disease Associations genes associated with the severe osteoporosis phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
severe platyspondyly Gene SetFrom HPO Gene-Disease Associations genes associated with the severe platyspondyly phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
severe photosensitivity Gene SetFrom HPO Gene-Disease Associations genes associated with the severe photosensitivity phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
severe hydrops fetalis Gene SetFrom HPO Gene-Disease Associations genes associated with the severe hydrops fetalis phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
severe carpal ossification delay Gene SetFrom HPO Gene-Disease Associations genes associated with the severe carpal ossification delay phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
severe lactic acidosis Gene SetFrom HPO Gene-Disease Associations genes associated with the severe lactic acidosis phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
severe t-cell immunodeficiency Gene SetFrom HPO Gene-Disease Associations genes associated with the severe t-cell immunodeficiency phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
severe combined immunodeficiency Gene SetFrom HPO Gene-Disease Associations genes associated with the severe combined immunodeficiency phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
severe recurrent varicella Gene SetFrom HPO Gene-Disease Associations genes associated with the severe recurrent varicella phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
severe visual impairment Gene SetFrom HPO Gene-Disease Associations genes associated with the severe visual impairment phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
intellectual disability, severe Gene SetFrom HPO Gene-Disease Associations genes associated with the intellectual disability, severe phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
severe hydrocephalus Gene SetFrom HPO Gene-Disease Associations genes associated with the severe hydrocephalus phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
severe failure to thrive Gene SetFrom HPO Gene-Disease Associations genes associated with the severe failure to thrive phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
severe b lymphocytopenia Gene SetFrom HPO Gene-Disease Associations genes associated with the severe b lymphocytopenia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
severe intrauterine growth retardation Gene SetFrom HPO Gene-Disease Associations genes associated with the severe intrauterine growth retardation phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
severe short-limb dwarfism Gene SetFrom HPO Gene-Disease Associations genes associated with the severe short-limb dwarfism phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
severe hearing impairment Gene SetFrom HPO Gene-Disease Associations genes associated with the severe hearing impairment phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
severe muscular hypotonia Gene SetFrom HPO Gene-Disease Associations genes associated with the severe muscular hypotonia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
severe demyelination of the white matter Gene SetFrom HPO Gene-Disease Associations genes associated with the severe demyelination of the white matter phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
severe sensorineural hearing impairment Gene SetFrom HPO Gene-Disease Associations genes associated with the severe sensorineural hearing impairment phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
severe t lymphocytopenia Gene SetFrom HPO Gene-Disease Associations genes associated with the severe t lymphocytopenia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
severe myopia Gene SetFrom HPO Gene-Disease Associations genes associated with the severe myopia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
severe limb shortening Gene SetFrom HPO Gene-Disease Associations genes associated with the severe limb shortening phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
severe short stature Gene SetFrom HPO Gene-Disease Associations genes associated with the severe short stature phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
severe periodontitis Gene SetFrom HPO Gene-Disease Associations genes associated with the severe periodontitis phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
severe postnatal growth retardation Gene SetFrom HPO Gene-Disease Associations genes associated with the severe postnatal growth retardation phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
severe global developmental delay Gene SetFrom HPO Gene-Disease Associations genes associated with the severe global developmental delay phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
Severe Acute Respiratory Syndrome Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Severe Acute Respiratory Syndrome phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
Severe Combined Immunodeficiency Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Severe Combined Immunodeficiency phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
mental retardation, severe, with spasticity and tapetoretinal degeneration Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, severe, with spasticity and tapetoretinal degeneration phenotype from the curated OMIM Gene-Disease Associations dataset. |
severe combined immunodeficiency due to il2 deficiency Gene SetFrom OMIM Gene-Disease Associations genes associated with the severe combined immunodeficiency due to il2 deficiency phenotype from the curated OMIM Gene-Disease Associations dataset. |
retinal dystrophy, early-onset severe Gene SetFrom OMIM Gene-Disease Associations genes associated with the retinal dystrophy, early-onset severe phenotype from the curated OMIM Gene-Disease Associations dataset. |
ulna and fibula, absence of, with severe limb deficiency Gene SetFrom OMIM Gene-Disease Associations genes associated with the ulna and fibula, absence of, with severe limb deficiency phenotype from the curated OMIM Gene-Disease Associations dataset. |
insulin resistance, severe, digenic Gene SetFrom OMIM Gene-Disease Associations genes associated with the insulin resistance, severe, digenic phenotype from the curated OMIM Gene-Disease Associations dataset. |
neutropenia, severe congenital 1, autosomal dominant Gene SetFrom OMIM Gene-Disease Associations genes associated with the neutropenia, severe congenital 1, autosomal dominant phenotype from the curated OMIM Gene-Disease Associations dataset. |
{obesity, severe, susceptibility to, bmiq9} Gene SetFrom OMIM Gene-Disease Associations genes associated with the {obesity, severe, susceptibility to, bmiq9} phenotype from the curated OMIM Gene-Disease Associations dataset. |
neutropenia, severe congenital 3, autosomal recessive Gene SetFrom OMIM Gene-Disease Associations genes associated with the neutropenia, severe congenital 3, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset. |
severe combined immunodeficiency, t cell-negative, b-cell/natural killer-cell positive Gene SetFrom OMIM Gene-Disease Associations genes associated with the severe combined immunodeficiency, t cell-negative, b-cell/natural killer-cell positive phenotype from the curated OMIM Gene-Disease Associations dataset. |
severe combined immunodeficiency due to ada deficiency Gene SetFrom OMIM Gene-Disease Associations genes associated with the severe combined immunodeficiency due to ada deficiency phenotype from the curated OMIM Gene-Disease Associations dataset. |
neutropenia, severe congenital, x-linked Gene SetFrom OMIM Gene-Disease Associations genes associated with the neutropenia, severe congenital, x-linked phenotype from the curated OMIM Gene-Disease Associations dataset. |
neutropenia, severe congenital, 6, autosomal recessive Gene SetFrom OMIM Gene-Disease Associations genes associated with the neutropenia, severe congenital, 6, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset. |
encephalopathy, neonatal severe Gene SetFrom OMIM Gene-Disease Associations genes associated with the encephalopathy, neonatal severe phenotype from the curated OMIM Gene-Disease Associations dataset. |
{obesity, severe, and type ii diabetes} Gene SetFrom OMIM Gene-Disease Associations genes associated with the {obesity, severe, and type ii diabetes} phenotype from the curated OMIM Gene-Disease Associations dataset. |
neutropenia, severe congenital, 5, autosomal recessive Gene SetFrom OMIM Gene-Disease Associations genes associated with the neutropenia, severe congenital, 5, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset. |
obesity, severe Gene SetFrom OMIM Gene-Disease Associations genes associated with the obesity, severe phenotype from the curated OMIM Gene-Disease Associations dataset. |
severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation Gene SetFrom OMIM Gene-Disease Associations genes associated with the severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation phenotype from the curated OMIM Gene-Disease Associations dataset. |
{influenza, severe, susceptibility to} Gene SetFrom OMIM Gene-Disease Associations genes associated with the {influenza, severe, susceptibility to} phenotype from the curated OMIM Gene-Disease Associations dataset. |
severe combined immunodeficiency, b cell-negative Gene SetFrom OMIM Gene-Disease Associations genes associated with the severe combined immunodeficiency, b cell-negative phenotype from the curated OMIM Gene-Disease Associations dataset. |
severe combined immunodeficiency, athabascan type Gene SetFrom OMIM Gene-Disease Associations genes associated with the severe combined immunodeficiency, athabascan type phenotype from the curated OMIM Gene-Disease Associations dataset. |
neutropenia, severe congenital 4, autosomal recessive Gene SetFrom OMIM Gene-Disease Associations genes associated with the neutropenia, severe congenital 4, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset. |
pulmonary disease, chronic obstructive, severe early-onset Gene SetFrom OMIM Gene-Disease Associations genes associated with the pulmonary disease, chronic obstructive, severe early-onset phenotype from the curated OMIM Gene-Disease Associations dataset. |
alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity Gene SetFrom OMIM Gene-Disease Associations genes associated with the alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity phenotype from the curated OMIM Gene-Disease Associations dataset. |
severe combined immunodeficiency, t-cell negative, b-cell/natural killer cell-positive type Gene SetFrom OMIM Gene-Disease Associations genes associated with the severe combined immunodeficiency, t-cell negative, b-cell/natural killer cell-positive type phenotype from the curated OMIM Gene-Disease Associations dataset. |
{malaria, severe, susceptibility to} Gene SetFrom OMIM Gene-Disease Associations genes associated with the {malaria, severe, susceptibility to} phenotype from the curated OMIM Gene-Disease Associations dataset. |
{malaria, severe, resistance to} Gene SetFrom OMIM Gene-Disease Associations genes associated with the {malaria, severe, resistance to} phenotype from the curated OMIM Gene-Disease Associations dataset. |
myopathy, reducing body, x-linked, severe early-onset Gene SetFrom OMIM Gene-Disease Associations genes associated with the myopathy, reducing body, x-linked, severe early-onset phenotype from the curated OMIM Gene-Disease Associations dataset. |
severe combined immunodeficiency, x-linked Gene SetFrom OMIM Gene-Disease Associations genes associated with the severe combined immunodeficiency, x-linked phenotype from the curated OMIM Gene-Disease Associations dataset. |
neutropenia, severe congenital 2, autosomal dominant Gene SetFrom OMIM Gene-Disease Associations genes associated with the neutropenia, severe congenital 2, autosomal dominant phenotype from the curated OMIM Gene-Disease Associations dataset. |
Severe Acute Respiratory Syndrome Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Acute Respiratory Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Visual Impairment Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Visual Impairment in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Mental Disorders, Severe Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Mental Disorders, Severe in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Combined Immunodeficiency Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Combined Immunodeficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Hypoglycaemia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Hypoglycaemia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Intellectual Disability Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Intellectual Disability in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Epstein Barr Virus Infection Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Epstein Barr Virus Infection in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Hereditary Factor Viii Deficiency Disease Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Hereditary Factor Viii Deficiency Disease in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Sepsis Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Sepsis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Sensorineural Hearing Impairment Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Sensorineural Hearing Impairment in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Myopia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Myopia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Dementia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Dementia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Hypoxic Ischemic Encephalopathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Hypoxic Ischemic Encephalopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Dengue Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Dengue in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Depression Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Depression in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Chronic Obstructive Pulmonary Disease Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Chronic Obstructive Pulmonary Disease in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Periodontitis Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Periodontitis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Autism, Severe Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Autism, Severe in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Acute Malnutrition Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Acute Malnutrition in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Aplastic Anemia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Aplastic Anemia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Intellectual Disability And Progressive Spastic Paraplegia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Intellectual Disability And Progressive Spastic Paraplegia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Congenital Microcephaly Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Congenital Microcephaly in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Expressive Language Delay Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Expressive Language Delay in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Mucopolysaccharidosis, Type Vi, Severe Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Mucopolysaccharidosis, Type Vi, Severe in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Malnutrition Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Malnutrition in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Nonproliferative Diabetic Retinopathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Nonproliferative Diabetic Retinopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Alpha Thalassemia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Alpha Thalassemia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Autosomal Recessive Muscular Dystrophy Of Childhood - North African Type (Disorder) Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Autosomal Recessive Muscular Dystrophy Of Childhood - North African Type (Disorder) in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Fever With Thrombocytopenia Syndrome Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Fever With Thrombocytopenia Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Alcohol Dependence Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Alcohol Dependence in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Bronchopulmonary Dysplasia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Bronchopulmonary Dysplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Persistent Asthma Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Persistent Asthma in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Acute Respiratory Infection Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Acute Respiratory Infection in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Asthma With Fungal Sensitisation Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Asthma With Fungal Sensitisation in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Generalized Recessive Dystrophic Epidermolysis Bullosa Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Generalized Recessive Dystrophic Epidermolysis Bullosa in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Acute Severe Refractory Exacerbation Of Asthma Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Acute Severe Refractory Exacerbation Of Asthma in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Granulocytopenia Severe Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Granulocytopenia Severe in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Beta Thalassemia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Beta Thalassemia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Pediatric Obstructive Sleep Apnea Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Pediatric Obstructive Sleep Apnea in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Varicella, Severe Recurrent Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Varicella, Severe Recurrent in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Major Depression With Psychotic Features Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Major Depression With Psychotic Features in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Athabaskan Severe Combined Immunodeficiency Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Athabaskan Severe Combined Immunodeficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Recurrent Major Depression Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Recurrent Major Depression in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Childhood Autosomal Recessive Muscular Dystrophy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Childhood Autosomal Recessive Muscular Dystrophy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe [Duchenne] Muscular Dystrophy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe [Duchenne] Muscular Dystrophy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Dermatitis, Multiple Allergies, Metabolic Wasting Syndrome Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Dermatitis, Multiple Allergies, Metabolic Wasting Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Hypothyroidism Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Hypothyroidism in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Receptive Language Delay Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Receptive Language Delay in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Reaction To Severe Stress, And Adjustment Disorders Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Reaction To Severe Stress, And Adjustment Disorders in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Copd, Severe Early-Onset Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Copd, Severe Early-Onset in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Short-Limb Dwarfism Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Short-Limb Dwarfism in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe T-Cell Immunodeficiency Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe T-Cell Immunodeficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Galactose Epimerase Deficiency, Severe Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Galactose Epimerase Deficiency, Severe in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Greig Cephalopolysyndactyly Syndrome, Severe Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Greig Cephalopolysyndactyly Syndrome, Severe in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Dehydration Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Dehydration in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Left Ventricular Systolic Dysfunction Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Left Ventricular Systolic Dysfunction in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Costello Syndrome, Severe Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Costello Syndrome, Severe in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Hunter'S Syndrome, Severe Form Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Hunter'S Syndrome, Severe Form in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Growth Restriction, Severe, With Distinctive Facies Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Growth Restriction, Severe, With Distinctive Facies in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Neonatal Lactic Acidosis Due To Nfs1-Isd11 Complex Deficiency Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Neonatal Lactic Acidosis Due To Nfs1-Isd11 Complex Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Early-Onset Axonal Neuropathy Due To Mitofusin 2 Deficiency Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Early-Onset Axonal Neuropathy Due To Mitofusin 2 Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Opioid Use Disorder, Severe Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Opioid Use Disorder, Severe in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Alpha/Beta T-Cell Lymphopenia With Gamma/Delta T-Cell Expansion, Severe Cytomegalovirus Infection, And Autoimmunity Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Alpha/Beta T-Cell Lymphopenia With Gamma/Delta T-Cell Expansion, Severe Cytomegalovirus Infection, And Autoimmunity in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Early Childhood Onset Retinal Dystrophy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Early Childhood Onset Retinal Dystrophy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Laryngospasm, Severe Neonatal Episodic Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Laryngospasm, Severe Neonatal Episodic in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Global Developmental Delay Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Severe Global Developmental Delay in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Severe Muscular Hypotonia Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Severe Muscular Hypotonia in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Severe Diarrhea Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Severe Diarrhea in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Severe B Lymphocytopenia Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Severe B Lymphocytopenia in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Severe Psychomotor Retardation Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Severe Psychomotor Retardation in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Severe Dry Skin Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Severe Dry Skin in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Severe Congenital Neutropenia Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Severe Congenital Neutropenia in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Severe Cutaneous Adverse Reactions (Smq) Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Severe Cutaneous Adverse Reactions (Smq) in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Early Severe Fetal Akinesia Sequence Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Early Severe Fetal Akinesia Sequence in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Severe Postnatal Growth Retardation Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Severe Postnatal Growth Retardation in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Severe Failure To Thrive Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Severe Failure To Thrive in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Severe Photosensitivity Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Severe Photosensitivity in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Severe Hearing Loss Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Severe Hearing Loss in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Severe Intrauterine Growth Retardation Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Severe Intrauterine Growth Retardation in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Severe Generalized Osteoporosis Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Severe Generalized Osteoporosis in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Severe Limb Shortening Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Severe Limb Shortening in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Severe Platyspondyly Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Severe Platyspondyly in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Headache Severe Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Headache Severe in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Severe Lactic Acidosis Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Severe Lactic Acidosis in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Severe Speech Delay Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Severe Speech Delay in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Severe Achondrodysplasia With Developmental Delay And Acanthosis Nigricans Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Severe Achondrodysplasia With Developmental Delay And Acanthosis Nigricans in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Severe Back Pain Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Severe Back Pain in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Severe Hydrocephalus Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Severe Hydrocephalus in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Influenza, Severe, Susceptibility To Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Influenza, Severe, Susceptibility To in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Severe Demyelination Of The White Matter Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Severe Demyelination Of The White Matter in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Severe Hydrops Fetalis Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Severe Hydrops Fetalis in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Severe Gastroesophageal Reflux Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Severe Gastroesophageal Reflux in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Severe Feeding Problems Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Severe Feeding Problems in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Severe Carpal Ossification Delay Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Severe Carpal Ossification Delay in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Severe congenital neutropenia type 4 (G6PC3) Gene Setproteins participating in the Severe congenital neutropenia type 4 (G6PC3) pathway from the Reactome Pathways 2024 dataset. |
Severe combined immunodeficiency Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Severe combined immunodeficiency from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Severe congenital encephalopathy due to MECP2 mutation Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Severe congenital encephalopathy due to MECP2 mutation from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Severe congenital neutropenia Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Severe congenital neutropenia from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
X-linked severe combined immunodeficiency Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease X-linked severe combined immunodeficiency from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Severe combined immunodeficiency Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Severe combined immunodeficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Severe COVID-19 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Severe COVID-19 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Severe acute respiratory syndrome Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Severe acute respiratory syndrome in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
X-linked severe combined immunodeficiency Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease X-linked severe combined immunodeficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Severe congenital neutropenia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Severe congenital neutropenia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Severe pre-eclampsia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Severe pre-eclampsia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Severe congenital neutropenia 8 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Severe congenital neutropenia 8 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Intellectual disability-severe speech delay-mild dysmorphism syndrome Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Intellectual disability-severe speech delay-mild dysmorphism syndrome in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
non-severe COVID-19 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease non-severe COVID-19 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
adult-onset severe asthma Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease adult-onset severe asthma in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Severe combined immunodeficiency with sensitivity to ionizing radiation Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Severe combined immunodeficiency with sensitivity to ionizing radiation in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Severe congenital neutropenia 3 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Severe congenital neutropenia 3 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
X-linked severe congenital neutropenia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease X-linked severe congenital neutropenia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Severe nonproliferative diabetic retinopathy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Severe nonproliferative diabetic retinopathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Autosomal dominant severe congenital neutropenia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Autosomal dominant severe congenital neutropenia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Persistent severe asthma Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Persistent severe asthma in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Severe congenital neutropenia 5 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Severe congenital neutropenia 5 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Severe congenital neutropenia 4 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Severe congenital neutropenia 4 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Severe congenital neutropenia 2 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Severe congenital neutropenia 2 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Severe congenital neutropenia 7 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Severe congenital neutropenia 7 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Severe congenital encephalopathy due to MECP2 mutation Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Severe congenital encephalopathy due to MECP2 mutation in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Severe congenital neutropenia 1 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Severe congenital neutropenia 1 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Severe congenital neutropenia 6 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Severe congenital neutropenia 6 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Susceptibility to severe coronavirus disease Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Susceptibility to severe coronavirus disease phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Severe combined immunodeficiency disease Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe combined immunodeficiency disease phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Severe hydrocephalus Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe hydrocephalus phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Severe combined immunodeficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe combined immunodeficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Early onset and severe retinal dystrophy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Early onset and severe retinal dystrophy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Severe neurodegenerative syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe neurodegenerative syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Severe combined immunodeficiency due to DCLRE1C deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe combined immunodeficiency due to DCLRE1C deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Athabaskan severe combined immunodeficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Athabaskan severe combined immunodeficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Severe early-childhood-onset retinal dystrophy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe early-childhood-onset retinal dystrophy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Severe global developmental delay Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe global developmental delay phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Severe X-linked myotubular myopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe X-linked myotubular myopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Severe intellectual deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe intellectual deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Neonatal severe primary hyperparathyroidism Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Neonatal severe primary hyperparathyroidism phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
T-B+ severe combined immunodeficiency due to JAK3 deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the T-B+ severe combined immunodeficiency due to JAK3 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
X-linked severe combined immunodeficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the X-linked severe combined immunodeficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
X-linked severe congenital neutropenia Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the X-linked severe congenital neutropenia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Severe neonatal-onset encephalopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe neonatal-onset encephalopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Severe myoclonic epilepsy in infancy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe myoclonic epilepsy in infancy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
ZAP70-Related Severe Combined Immunodeficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the ZAP70-Related Severe Combined Immunodeficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Severe achondroplasia-developmental delay-acanthosis nigricans syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe achondroplasia-developmental delay-acanthosis nigricans syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Severe sensorineural hearing impairment Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe sensorineural hearing impairment phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Intellectual disability-severe speech delay-mild dysmorphism syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Intellectual disability-severe speech delay-mild dysmorphism syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Atypical severe combined immunodeficiency due to complete RAG1/2 deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Atypical severe combined immunodeficiency due to complete RAG1/2 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Severe intellectual disability-progressive spastic diplegia syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe intellectual disability-progressive spastic diplegia syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Severe combined immunodeficiency due to CARD11 deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe combined immunodeficiency due to CARD11 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Severe congenital neutropenia Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe congenital neutropenia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Severe X-linked mitochondrial encephalomyopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe X-linked mitochondrial encephalomyopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Severe combined immunodeficiency due to CTPS1 deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe combined immunodeficiency due to CTPS1 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Severe underweight in infancy childhood and adolescence Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe underweight in infancy childhood and adolescence phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Autosomal recessive severe congenital neutropenia due to CSF3R deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Severe neurodevelopmental delay Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe neurodevelopmental delay phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Spastic paraplegia-severe developmental delay-epilepsy syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Spastic paraplegia-severe developmental delay-epilepsy syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Severe combined immunodeficiency due to CARMIL2 deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe combined immunodeficiency due to CARMIL2 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Susceptibility to severe COVID- Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Susceptibility to severe COVID- phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Intermediate severe Salla disease Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Intermediate severe Salla disease phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Severe combined immunodeficiency due to DNA-PKcs deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe combined immunodeficiency due to DNA-PKcs deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Severe combined immunodeficiency due to CORO1A deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe combined immunodeficiency due to CORO1A deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Severe combined immunodeficiency due to IKK2 deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe combined immunodeficiency due to IKK2 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Severe dermatitis-multiple allergies-metabolic wasting syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe dermatitis-multiple allergies-metabolic wasting syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Severe combined immunodeficiency due to LCK deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe combined immunodeficiency due to LCK deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Severe muscular hypotonia Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe muscular hypotonia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Severe Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Severe combined immunodeficiency due to LAT deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe combined immunodeficiency due to LAT deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
CV-A6-associated hand, foot, and mouth disease (severe vs mild) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the CV-A6-associated hand, foot, and mouth disease (severe vs mild) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Severe COVID-19 infection with respiratory failure (analysis I) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Severe COVID-19 infection with respiratory failure (analysis I) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Severe COVID-19 infection with respiratory failure (analysis II) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Severe COVID-19 infection with respiratory failure (analysis II) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Statin-induced myopathy (severe) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Statin-induced myopathy (severe) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Pelvic organ prolapse (moderate/severe) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Pelvic organ prolapse (moderate/severe) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Severe influenza A (H1N1) infection Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Severe influenza A (H1N1) infection phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Severe malaria Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Severe malaria phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Cold medicine-related Stevens-Johnson syndrome/toxic epidermal necrolysis (SJS/TEN) with severe ocular complications Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Cold medicine-related Stevens-Johnson syndrome/toxic epidermal necrolysis (SJS/TEN) with severe ocular complications phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Chronic kidney disease (severe chronic kidney disease vs normal kidney function) in type 1 diabetes Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Chronic kidney disease (severe chronic kidney disease vs normal kidney function) in type 1 diabetes phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Severe malaria (adjusted for sickle cell variant rs334) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Severe malaria (adjusted for sickle cell variant rs334) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Severe aplastic anemia Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Severe aplastic anemia phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Severe aortic features in Marfan syndrome Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Severe aortic features in Marfan syndrome phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Severe skin toxicity response to cetuximab in colorectal cancer Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Severe skin toxicity response to cetuximab in colorectal cancer phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Asthma (moderate or severe) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Asthma (moderate or severe) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Acne (severe) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Acne (severe) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Chronic obstructive pulmonary disease (moderate to severe) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Chronic obstructive pulmonary disease (moderate to severe) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Chronic obstructive pulmonary disease (severe) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Chronic obstructive pulmonary disease (severe) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Osteoarthritis (hand, severe) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Osteoarthritis (hand, severe) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Myopia (severe) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Myopia (severe) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Pharmacokinetics of antiepileptic drugs in severe mental disorder (concentration drug ratio) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Pharmacokinetics of antiepileptic drugs in severe mental disorder (concentration drug ratio) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Pharmacokinetics of antipsychotic drugs in severe mental disorder (concentration drug ratio) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Pharmacokinetics of antipsychotic drugs in severe mental disorder (concentration drug ratio) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Pharmacokinetics of olanzapine in severe mental disorder (concentration dose ratio) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Pharmacokinetics of olanzapine in severe mental disorder (concentration dose ratio) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Cold medicine-related Stevens-Johnson syndrome/toxic epidermal necrolysis (SJS/TEN) with severe mucosal involvement Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Cold medicine-related Stevens-Johnson syndrome/toxic epidermal necrolysis (SJS/TEN) with severe mucosal involvement phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Asthma with severe exacerbations Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Asthma with severe exacerbations phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Severe diabetic retinopathy in type 2 diabetes Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Severe diabetic retinopathy in type 2 diabetes phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Hypospadias (moderate to severe) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Hypospadias (moderate to severe) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Glucosuria (moderate to severe) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Glucosuria (moderate to severe) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Hematuria (moderate to severe) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Hematuria (moderate to severe) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Proteinuria (moderate to severe) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Proteinuria (moderate to severe) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Ketonuria (moderate to severe) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Ketonuria (moderate to severe) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Childhood asthma with severe exacerbations Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Childhood asthma with severe exacerbations phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Treatment response for severe sepsis Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Treatment response for severe sepsis phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Adolescent idiopathic scoliosis (severe) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Adolescent idiopathic scoliosis (severe) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Response to mepolizumab in severe asthma Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Response to mepolizumab in severe asthma phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Thiopurine-induced severe leukopenia in inflammatory bowel disease Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Thiopurine-induced severe leukopenia in inflammatory bowel disease phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Thiopurine-induced acute severe leukopenia in inflammatory bowel disease Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Thiopurine-induced acute severe leukopenia in inflammatory bowel disease phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Thiopurine-induced severe alopecia in inflammatory bowel disease Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Thiopurine-induced severe alopecia in inflammatory bowel disease phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Erosive tooth wear (severe vs none or mild) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Erosive tooth wear (severe vs none or mild) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Severe progression in rheumatoid arthritis Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Severe progression in rheumatoid arthritis phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Severe bacterial meningitis Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Severe bacterial meningitis phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Severe exacerbations in childhood asthma Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Severe exacerbations in childhood asthma phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Moderate or severe diarrhoea in darapladib-treated cardiovascular disease (time to event) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Moderate or severe diarrhoea in darapladib-treated cardiovascular disease (time to event) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Severe gingival inflammation Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Severe gingival inflammation phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Severe gastric atrophy Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Severe gastric atrophy phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Severe insulin-deficient type 2 diabetes Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Severe insulin-deficient type 2 diabetes phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Severe insulin-resistant type 2 diabetes Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Severe insulin-resistant type 2 diabetes phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Severe autoimmune type 2 diabetes Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Severe autoimmune type 2 diabetes phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Symptoms in placebo-treated COVID-19 outpatients at risk of severe disease (time to remission) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Symptoms in placebo-treated COVID-19 outpatients at risk of severe disease (time to remission) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Severe coronary stenosis (young age of onset interaction) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Severe coronary stenosis (young age of onset interaction) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Diffuse mesangial sclerosis Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Diffuse mesangial sclerosis phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Amyotrophic lateral sclerosis 20 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Amyotrophic lateral sclerosis 20 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Amyotrophic lateral sclerosis 18 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Amyotrophic lateral sclerosis 18 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Amyotrophic lateral sclerosis type 11 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Amyotrophic lateral sclerosis type 11 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Amyotrophic lateral sclerosis type 10 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Amyotrophic lateral sclerosis type 10 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Amyotrophic lateral sclerosis type 12 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Amyotrophic lateral sclerosis type 12 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Amyotrophic lateral sclerosis type 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Amyotrophic lateral sclerosis type 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Amyotrophic lateral sclerosis type 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Amyotrophic lateral sclerosis type 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Amyotrophic lateral sclerosis type 4 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Amyotrophic lateral sclerosis type 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Amyotrophic lateral sclerosis type 6 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Amyotrophic lateral sclerosis type 6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Amyotrophic lateral sclerosis 1, autosomal recessive Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Amyotrophic lateral sclerosis 1, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Juvenile primary lateral sclerosis Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Juvenile primary lateral sclerosis phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Amyotrophic lateral sclerosis 6, autosomal recessive Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Amyotrophic lateral sclerosis 6, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Amyotrophic lateral sclerosis 16, juvenile Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Amyotrophic lateral sclerosis 16, juvenile phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Osteopathia striata with cranial sclerosis Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Osteopathia striata with cranial sclerosis phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Amyotrophic Lateral Sclerosis 5 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Amyotrophic Lateral Sclerosis 5 from the curated CTD Gene-Disease Associations dataset. |
Amyotrophic Lateral Sclerosis 6, Autosomal Recessive Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Amyotrophic Lateral Sclerosis 6, Autosomal Recessive from the curated CTD Gene-Disease Associations dataset. |
Sclerosis Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Sclerosis from the curated CTD Gene-Disease Associations dataset. |
Osteopathia striata cranial sclerosis Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Osteopathia striata cranial sclerosis from the curated CTD Gene-Disease Associations dataset. |
Amyotrophic Lateral Sclerosis 11 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Amyotrophic Lateral Sclerosis 11 from the curated CTD Gene-Disease Associations dataset. |
Amyotrophic Lateral Sclerosis, Sporadic Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Amyotrophic Lateral Sclerosis, Sporadic from the curated CTD Gene-Disease Associations dataset. |
Amyotrophic Lateral Sclerosis 4, Juvenile Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Amyotrophic Lateral Sclerosis 4, Juvenile from the curated CTD Gene-Disease Associations dataset. |
Amyotrophic Lateral Sclerosis 3 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Amyotrophic Lateral Sclerosis 3 from the curated CTD Gene-Disease Associations dataset. |
Amyotrophic Lateral Sclerosis 7 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Amyotrophic Lateral Sclerosis 7 from the curated CTD Gene-Disease Associations dataset. |
Amyotrophic Lateral Sclerosis 8 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Amyotrophic Lateral Sclerosis 8 from the curated CTD Gene-Disease Associations dataset. |
Amyotrophic Lateral Sclerosis 9 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Amyotrophic Lateral Sclerosis 9 from the curated CTD Gene-Disease Associations dataset. |
Diffuse Cerebral Sclerosis of Schilder Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Diffuse Cerebral Sclerosis of Schilder from the curated CTD Gene-Disease Associations dataset. |
Amyotrophic Lateral Sclerosis 10 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Amyotrophic Lateral Sclerosis 10 from the curated CTD Gene-Disease Associations dataset. |
AMYOTROPHIC LATERAL SCLEROSIS 12 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease AMYOTROPHIC LATERAL SCLEROSIS 12 from the curated CTD Gene-Disease Associations dataset. |
Mesangial sclerosis, diffuse Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Mesangial sclerosis, diffuse from the curated CTD Gene-Disease Associations dataset. |
Multiple Sclerosis Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Multiple Sclerosis from the curated CTD Gene-Disease Associations dataset. |
Multiple Sclerosis, Relapsing-Remitting Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Multiple Sclerosis, Relapsing-Remitting from the curated CTD Gene-Disease Associations dataset. |
Primary lateral sclerosis juvenile Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Primary lateral sclerosis juvenile from the curated CTD Gene-Disease Associations dataset. |
Amyotrophic lateral sclerosis 1 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Amyotrophic lateral sclerosis 1 from the curated CTD Gene-Disease Associations dataset. |
Primary Lateral Sclerosis, Adult, 1 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Primary Lateral Sclerosis, Adult, 1 from the curated CTD Gene-Disease Associations dataset. |
Amyotrophic Lateral Sclerosis Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Amyotrophic Lateral Sclerosis from the curated CTD Gene-Disease Associations dataset. |
AMYOTROPHIC LATERAL SCLEROSIS-PARKINSONISM/DEMENTIA COMPLEX 1 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease AMYOTROPHIC LATERAL SCLEROSIS-PARKINSONISM/DEMENTIA COMPLEX 1 from the curated CTD Gene-Disease Associations dataset. |
Amyotrophic Lateral Sclerosis 2, Juvenile Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Amyotrophic Lateral Sclerosis 2, Juvenile from the curated CTD Gene-Disease Associations dataset. |
Multiple Sclerosis Gene SetFrom dbGAP Gene-Trait Associations genes associated with the trait Multiple Sclerosis in GWAS and other genetic association datasets from the dbGAP Gene-Trait Associations dataset. |
Amyotrophic Lateral Sclerosis Gene SetFrom dbGAP Gene-Trait Associations genes associated with the trait Amyotrophic Lateral Sclerosis in GWAS and other genetic association datasets from the dbGAP Gene-Trait Associations dataset. |
Sclerosis Gene SetFrom dbGAP Gene-Trait Associations genes associated with the trait Sclerosis in GWAS and other genetic association datasets from the dbGAP Gene-Trait Associations dataset. |
amyotrophic lateral sclerosis Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease amyotrophic lateral sclerosis from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
multiple sclerosis Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease multiple sclerosis from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
amyotrophic lateral sclerosis Gene SetFrom DISEASES Experimental Gene-Disease Association Evidence Scores genes associated with the disease amyotrophic lateral sclerosis in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores dataset. |
multiple sclerosis Gene SetFrom DISEASES Experimental Gene-Disease Association Evidence Scores genes associated with the disease multiple sclerosis in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores dataset. |
lateral sclerosis Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease lateral sclerosis in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
amyotrophic lateral sclerosis Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease amyotrophic lateral sclerosis in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
pulmonary systemic sclerosis Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease pulmonary systemic sclerosis in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
relapsing-remitting multiple sclerosis Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease relapsing-remitting multiple sclerosis in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
hodgkin's lymphoma, nodular sclerosis Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease hodgkin's lymphoma, nodular sclerosis in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
amyotrophic lateral sclerosis type 8 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease amyotrophic lateral sclerosis type 8 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
choroidal sclerosis Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease choroidal sclerosis in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
multiple sclerosis Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease multiple sclerosis in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
amyotrophic lateral sclerosis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease amyotrophic lateral sclerosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
multiple sclerosis; lupus erythematosus; wegener's granulomatosis; guillain-barre syndrome; thrombocytopenic purpura, idiopathic Gene SetFrom GAD Gene-Disease Associations genes associated with the disease multiple sclerosis; lupus erythematosus; wegener's granulomatosis; guillain-barre syndrome; thrombocytopenic purpura, idiopathic in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
multiple sclerosis; optic neuritis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease multiple sclerosis; optic neuritis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
crohn disease; diabetes mellitus, type 1; inflammatory bowel diseases; multiple sclerosis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease crohn disease; diabetes mellitus, type 1; inflammatory bowel diseases; multiple sclerosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
amyotrophic lateral sclerosis; iron metabolism disorders; nerve degeneration Gene SetFrom GAD Gene-Disease Associations genes associated with the disease amyotrophic lateral sclerosis; iron metabolism disorders; nerve degeneration in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
amyotrophic lateral sclerosis; hemochromatosis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease amyotrophic lateral sclerosis; hemochromatosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
diffuse mesangial sclerosis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease diffuse mesangial sclerosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
amyotrophic lateral sclerosis; chromosome disorders; Gene SetFrom GAD Gene-Disease Associations genes associated with the disease amyotrophic lateral sclerosis; chromosome disorders; in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
sclerosis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease sclerosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
autoimmune thyroiditis; breast neoplasms; mammary neoplasms; multiple sclerosis; rheumatoid spondylitis; spondylitis, ankylosing; thyroiditis, autoimmune Gene SetFrom GAD Gene-Disease Associations genes associated with the disease autoimmune thyroiditis; breast neoplasms; mammary neoplasms; multiple sclerosis; rheumatoid spondylitis; spondylitis, ankylosing; thyroiditis, autoimmune in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
multiple sclerosis (age of onset) Gene SetFrom GAD Gene-Disease Associations genes associated with the disease multiple sclerosis (age of onset) in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
multiple sclerosis; diabetes, type 1 Gene SetFrom GAD Gene-Disease Associations genes associated with the disease multiple sclerosis; diabetes, type 1 in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
seizures; thrombosis, deep vein; systemic sclerosis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease seizures; thrombosis, deep vein; systemic sclerosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
multiple sclerosis; crohn's disease Gene SetFrom GAD Gene-Disease Associations genes associated with the disease multiple sclerosis; crohn's disease in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
alzheimer's disease; multiple sclerosis; hiv Gene SetFrom GAD Gene-Disease Associations genes associated with the disease alzheimer's disease; multiple sclerosis; hiv in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
syndrome mimicking amyotrophic lateral sclerosis. Gene SetFrom GAD Gene-Disease Associations genes associated with the disease syndrome mimicking amyotrophic lateral sclerosis. in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
alzheimer disease; alzheimer's disease; amyotrophic lateral sclerosis; aphasia, primary progressive Gene SetFrom GAD Gene-Disease Associations genes associated with the disease alzheimer disease; alzheimer's disease; amyotrophic lateral sclerosis; aphasia, primary progressive in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
susceptibility to multiple sclerosis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease susceptibility to multiple sclerosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |