| Name |
|---|
LDLRAD1 Genelow density lipoprotein receptor class A domain containing 1 Predicted to be located in membrane. [provided by Alliance of Genome Resources, Mar 2025] |
LDLRAD2 Genelow density lipoprotein receptor class A domain containing 2 Predicted to be located in membrane. [provided by Alliance of Genome Resources, Mar 2025] |
LDLRAD3 Genelow density lipoprotein receptor class A domain containing 3 Predicted to enable amyloid-beta binding activity. Predicted to be involved in receptor-mediated endocytosis. Predicted to act upstream of or within regulation of protein processing. Predicted to be located in membrane. Predicted to be active in plasma membrane. [provided by Alliance of Genome Resources, Mar 2025] |
LRP2 Genelow density lipoprotein receptor-related protein 2 The protein encoded by this gene, low density lipoprotein-related protein 2 (LRP2) or megalin, is a multi-ligand endocytic receptor that is expressed in many different tissues but primarily in absorptive epithilial tissues such as the kidney. This glycoprotein has a large amino-terminal extracellular domain, a single transmembrane domain, and a short carboxy-terminal cytoplasmic tail. The extracellular ligand-binding-domains bind diverse macromolecules including albumin, apolipoproteins B and E, and lipoprotein lipase. The LRP2 protein is critical for the reuptake of numerous ligands, including lipoproteins, sterols, vitamin-binding proteins, and hormones. This protein also has a role in cell-signaling; extracellular ligands include parathyroid horomones and the morphogen sonic hedgehog while cytosolic ligands include MAP kinase scaffold proteins and JNK interacting proteins. Recycling of this membrane receptor is regulated by phosphorylation of its cytoplasmic domain. Mutations in this gene cause Donnai-Barrow syndrome (DBS) and facio-oculoacoustico-renal syndrome (FOAR).[provided by RefSeq, Aug 2009] |
LRP3 Genelow density lipoprotein receptor-related protein 3 Involved in negative regulation of fat cell differentiation; positive regulation of osteoblast differentiation; and regulation of gene expression. Predicted to be located in membrane. Predicted to be active in plasma membrane. [provided by Alliance of Genome Resources, Mar 2025] |
LRP1 Genelow density lipoprotein receptor-related protein 1 This gene encodes a member of the low-density lipoprotein receptor family of proteins. The encoded preproprotein is proteolytically processed by furin to generate 515 kDa and 85 kDa subunits that form the mature receptor (PMID: 8546712). This receptor is involved in several cellular processes, including intracellular signaling, lipid homeostasis, and clearance of apoptotic cells. In addition, the encoded protein is necessary for the alpha 2-macroglobulin-mediated clearance of secreted amyloid precursor protein and beta-amyloid, the main component of amyloid plaques found in Alzheimer patients. Expression of this gene decreases with age and has been found to be lower than controls in brain tissue from Alzheimer's disease patients. [provided by RefSeq, Oct 2015] |
LRP6 Genelow density lipoprotein receptor-related protein 6 This gene encodes a member of the low density lipoprotein (LDL) receptor gene family. LDL receptors are transmembrane cell surface proteins involved in receptor-mediated endocytosis of lipoprotein and protein ligands. The protein encoded by this gene functions as a receptor or, with Frizzled, a co-receptor for Wnt and thereby transmits the canonical Wnt/beta-catenin signaling cascade. Through its interaction with the Wnt/beta-catenin signaling cascade this gene plays a role in the regulation of cell differentiation, proliferation, and migration and the development of many cancer types. This protein undergoes gamma-secretase dependent RIP- (regulated intramembrane proteolysis) processing but the precise locations of the cleavage sites have not been determined.[provided by RefSeq, Dec 2009] |
LRP4 Genelow density lipoprotein receptor-related protein 4 This gene encodes a member of the low-density lipoprotein receptor-related protein family. The encoded protein may be a regulator of Wnt signaling. Mutations in this gene are associated with Cenani-Lenz syndrome. [provided by RefSeq, May 2010] |
LRP5 Genelow density lipoprotein receptor-related protein 5 This gene encodes a transmembrane low-density lipoprotein receptor that binds and internalizes ligands in the process of receptor-mediated endocytosis. This protein also acts as a co-receptor with Frizzled protein family members for transducing signals by Wnt proteins and was originally cloned on the basis of its association with type 1 diabetes mellitus in humans. This protein plays a key role in skeletal homeostasis and many bone density related diseases are caused by mutations in this gene. Mutations in this gene also cause familial exudative vitreoretinopathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014] |
LRP8 Genelow density lipoprotein receptor-related protein 8, apolipoprotein e receptor This gene encodes a member of the low density lipoprotein receptor (LDLR) family. Low density lipoprotein receptors are cell surface proteins that play roles in both signal transduction and receptor-mediated endocytosis of specific ligands for lysosomal degradation. The encoded protein plays a critical role in the migration of neurons during development by mediating Reelin signaling, and also functions as a receptor for the cholesterol transport protein apolipoprotein E. Expression of this gene may be a marker for major depressive disorder. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jun 2011] |
IL3RA Geneinterleukin 3 receptor, alpha (low affinity) The protein encoded by this gene is an interleukin 3 specific subunit of a heterodimeric cytokine receptor. The receptor is comprised of a ligand specific alpha subunit and a signal transducing beta subunit shared by the receptors for interleukin 3 (IL3), colony stimulating factor 2 (CSF2/GM-CSF), and interleukin 5 (IL5). The binding of this protein to IL3 depends on the beta subunit. The beta subunit is activated by the ligand binding, and is required for the biological activities of IL3. This gene and the gene encoding the colony stimulating factor 2 receptor alpha chain (CSF2RA) form a cytokine receptor gene cluster in a X-Y pseudoautosomal region on chromosomes X or Y. Alternatively spliced transcript variants encoding distinct isoforms have been found. [provided by RefSeq, Jun 2012] |
LRPAP1 Genelow density lipoprotein receptor-related protein associated protein 1 This gene encodes a protein that interacts with the low density lipoprotein (LDL) receptor-related protein and facilitates its proper folding and localization by preventing the binding of ligands. Mutations in this gene have been identified in individuals with myopia 23. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013] |
CSF2RB Genecolony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage) The protein encoded by this gene is the common beta chain of the high affinity receptor for IL-3, IL-5 and CSF. Defects in this gene have been reported to be associated with protein alveolar proteinosis (PAP). [provided by RefSeq, Jul 2008] |
CSF2RA Genecolony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage) The protein encoded by this gene is the alpha subunit of the heterodimeric receptor for colony stimulating factor 2, a cytokine which controls the production, differentiation, and function of granulocytes and macrophages. The encoded protein is a member of the cytokine family of receptors. This gene is found in the pseudoautosomal region (PAR) of the X and Y chromosomes. Multiple transcript variants encoding different isoforms have been found for this gene, with some of the isoforms being membrane-bound and others being soluble. [provided by RefSeq, Jul 2008] |
OLR1 Geneoxidized low density lipoprotein (lectin-like) receptor 1 This gene encodes a low density lipoprotein receptor that belongs to the C-type lectin superfamily. This gene is regulated through the cyclic AMP signaling pathway. The encoded protein binds, internalizes and degrades oxidized low-density lipoprotein. This protein may be involved in the regulation of Fas-induced apoptosis. This protein may play a role as a scavenger receptor. Mutations of this gene have been associated with atherosclerosis, risk of myocardial infarction, and may modify the risk of Alzheimer's disease. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Feb 2010] |
LDLR Genelow density lipoprotein receptor The low density lipoprotein receptor (LDLR) gene family consists of cell surface proteins involved in receptor-mediated endocytosis of specific ligands. The encoded protein is normally bound at the cell membrane, where it binds low density lipoprotein/cholesterol and is taken into the cell. Lysosomes release the cholesterol, which is made available for repression of microsomal enzyme 3-hydroxy-3-methylglutaryl coenzyme A (HMG CoA) reductase, the rate-limiting step in cholesterol synthesis. At the same time, a reciprocal stimulation of cholesterol ester synthesis takes place. Mutations in this gene cause the autosomal dominant disorder, familial hypercholesterolemia. Alternate splicing results in multiple transcript variants.[provided by RefSeq, May 2022] |
LRP5L Genelow density lipoprotein receptor-related protein 5-like |
LDLRAD4 Genelow density lipoprotein receptor class A domain containing 4 Enables R-SMAD binding activity. Involved in negative regulation of cell migration; negative regulation of epithelial to mesenchymal transition; and negative regulation of transmembrane receptor protein serine/threonine kinase signaling pathway. Located in early endosome membrane. [provided by Alliance of Genome Resources, Mar 2025] |
FCGR3A GeneFc fragment of IgG, low affinity IIIa, receptor (CD16a) This gene encodes a receptor for the Fc portion of immunoglobulin G, and it is involved in the removal of antigen-antibody complexes from the circulation, as well as other responses, including antibody dependent cellular mediated cytotoxicity and antibody dependent enhancement of virus infections. This gene (FCGR3A) is highly similar to another nearby gene (FCGR3B) located on chromosome 1. The receptor encoded by this gene is expressed on natural killer (NK) cells as an integral membrane glycoprotein anchored through a transmembrane peptide, whereas FCGR3B is expressed on polymorphonuclear neutrophils (PMN) where the receptor is anchored through a phosphatidylinositol (PI) linkage. Mutations in this gene are associated with immunodeficiency 20, and have been linked to susceptibility to recurrent viral infections, susceptibility to systemic lupus erythematosus, and alloimmune neonatal neutropenia. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2020] |
FCGR3B GeneFc fragment of IgG, low affinity IIIb, receptor (CD16b) The protein encoded by this gene is a low affinity receptor for the Fc region of gamma immunoglobulins (IgG). The encoded protein acts as a monomer and can bind either monomeric or aggregated IgG. This gene may function to capture immune complexes in the peripheral circulation. Several transcript variants encoding different isoforms have been found for this gene. A highly-similar gene encoding a related protein is also found on chromosome 1. [provided by RefSeq, Aug 2012] |
VLDLR Genevery low density lipoprotein receptor The low density lipoprotein receptor (LDLR) gene family consists of cell surface proteins involved in receptor-mediated endocytosis of specific ligands. This gene encodes a lipoprotein receptor that is a member of the LDLR family and plays important roles in VLDL-triglyceride metabolism and the reelin signaling pathway. Mutations in this gene cause VLDLR-associated cerebellar hypoplasia. Alternative splicing generates multiple transcript variants encoding distinct isoforms for this gene. [provided by RefSeq, Aug 2009] |
LOC100421006 Genevery low density lipoprotein receptor pseudogene |
LDLRAP1 Genelow density lipoprotein receptor adaptor protein 1 The protein encoded by this gene is a cytosolic protein which contains a phosphotyrosine binding (PTD) domain. The PTD domain has been found to interact with the cytoplasmic tail of the LDL receptor. Mutations in this gene lead to LDL receptor malfunction and cause the disorder autosomal recessive hypercholesterolaemia. [provided by RefSeq, Jul 2008] |
LRLE1 Geneliver-related low express protein 1 |
CSF2RBP1 Genecolony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage) pseudogene 1 |
LRP1B Genelow density lipoprotein receptor-related protein 1B This gene encodes a member of the low density lipoprotein (LDL) receptor family. These receptors play a wide variety of roles in normal cell function and development due to their interactions with multiple ligands. Disruption of this gene has been reported in several types of cancer. [provided by RefSeq, Jun 2016] |
LRP10 Genelow density lipoprotein receptor-related protein 10 This gene encodes a low density lipoprotein receptor family protein. A similar protein in mouse is thought to play a role in the uptake of apolipoprotein E-containing lipoproteins. [provided by RefSeq, Jul 2016] |
LRP11 Genelow density lipoprotein receptor-related protein 11 Enables phosphoprotein binding activity. Predicted to be involved in several processes, including response to cold; response to immobilization stress; and response to water deprivation. Predicted to be located in plasma membrane. [provided by Alliance of Genome Resources, Mar 2025] |
LRP12 Genelow density lipoprotein receptor-related protein 12 This gene encodes a member of the low-density lipoprotein receptor related protein family. The product of this gene is a transmembrane protein that is differentially expressed in many cancer cells. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Feb 2010] |
FCGR2B GeneFc fragment of IgG, low affinity IIb, receptor (CD32) The protein encoded by this gene is a low affinity receptor for the Fc region of immunoglobulin gamma complexes. The encoded protein is involved in the phagocytosis of immune complexes and in the regulation of antibody production by B-cells. Variations in this gene may increase susceptibilty to systemic lupus erythematosus (SLE). Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2010] |
FCGR2C GeneFc fragment of IgG, low affinity IIc, receptor for (CD32) (gene/pseudogene) This gene encodes one of three members of a family of low-affinity immunoglobulin gamma Fc receptors found on the surface of many immune response cells. The encoded protein is a transmembrane glycoprotein and may be involved in phagocytosis and clearing of immune complexes. An allelic polymorphism in this gene results in both coding and non-coding variants. [provided by RefSeq, Apr 2012] |
FCGR2A GeneFc fragment of IgG, low affinity IIa, receptor (CD32) This gene encodes one member of a family of immunoglobulin Fc receptor genes found on the surface of many immune response cells. The protein encoded by this gene is a cell surface receptor found on phagocytic cells such as macrophages and neutrophils, and is involved in the process of phagocytosis and clearing of immune complexes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2008] |
FCER2 GeneFc fragment of IgE, low affinity II, receptor for (CD23) The protein encoded by this gene is a B-cell specific antigen, and a low-affinity receptor for IgE. It has essential roles in B cell growth and differentiation, and the regulation of IgE production. This protein also exists as a soluble secreted form, then functioning as a potent mitogenic growth factor. Alternatively spliced transcript variants encoding different isoforms have been described for this gene.[provided by RefSeq, Jul 2011] |
HDLC3 GeneHigh density lipoprotein cholesterol, low serum, 3 |
LOC124905743 Genelow affinity immunoglobulin gamma Fc region receptor III-B |
Low T3 Syndrome Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Low T3 Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
ache, low back; low back pain Gene SetFrom GAD Gene-Disease Associations genes associated with the disease ache, low back; low back pain in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
ache, low back; low back pain; scoliosis; spinal diseases Gene SetFrom GAD Gene-Disease Associations genes associated with the disease ache, low back; low back pain; scoliosis; spinal diseases in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
ache, low back; arthritis, psoriatic; inflammatory bowel disease, nos; inflammatory bowel diseases; low back pain; psoriatic arthropathy; rheumatoid spondylitis; spondylarthropathies; spondylitis, ankylosing Gene SetFrom GAD Gene-Disease Associations genes associated with the disease ache, low back; arthritis, psoriatic; inflammatory bowel disease, nos; inflammatory bowel diseases; low back pain; psoriatic arthropathy; rheumatoid spondylitis; spondylarthropathies; spondylitis, ankylosing in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
ache, low back; acute disease; low back pain; pain; sciatica Gene SetFrom GAD Gene-Disease Associations genes associated with the disease ache, low back; acute disease; low back pain; pain; sciatica in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
ache, low back; intervertebral disk displacement; low back pain; occupational diseases Gene SetFrom GAD Gene-Disease Associations genes associated with the disease ache, low back; intervertebral disk displacement; low back pain; occupational diseases in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
ache, low back; intervertebral disk displacement; low back pain Gene SetFrom GAD Gene-Disease Associations genes associated with the disease ache, low back; intervertebral disk displacement; low back pain in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
ache, low back; intervertebral disk degeneration; low back pain Gene SetFrom GAD Gene-Disease Associations genes associated with the disease ache, low back; intervertebral disk degeneration; low back pain in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
digeorge syndrome; pharyngeal pouch; syndrome; velo-cardio-facial syndrome; 22q11 deletion syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease digeorge syndrome; pharyngeal pouch; syndrome; velo-cardio-facial syndrome; 22q11 deletion syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
arthritis; sarcoidosis; skin diseases; syndrome; uveitis; vision, low Gene SetFrom GAD Gene-Disease Associations genes associated with the disease arthritis; sarcoidosis; skin diseases; syndrome; uveitis; vision, low in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
Low Anterior Resection Syndrome Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Low Anterior Resection Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Lynch syndrome:Lynch syndrome:Lynch syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Lynch syndrome:Lynch syndrome:Lynch syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
fatigue syndrome, chronic; fatigue syndrome; postviral; persian gulf syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease fatigue syndrome, chronic; fatigue syndrome; postviral; persian gulf syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
nocturnal myoclonus syndrome; restless legs syndrome; tourette syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease nocturnal myoclonus syndrome; restless legs syndrome; tourette syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
meconium aspiration syndrome; resp distress syndrome neonatal; respiratory distress syndrome, newborn; sleep disorders Gene SetFrom GAD Gene-Disease Associations genes associated with the disease meconium aspiration syndrome; resp distress syndrome neonatal; respiratory distress syndrome, newborn; sleep disorders 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. |
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. |
Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
low-density lipoprotein particle Gene SetFrom COMPARTMENTS Curated Protein Localization Evidence Scores proteins localized to the low-density lipoprotein particle cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset. |
very-low-density lipoprotein particle Gene SetFrom COMPARTMENTS Curated Protein Localization Evidence Scores proteins localized to the very-low-density lipoprotein particle cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset. |
low-density lipoprotein particle Gene SetFrom COMPARTMENTS Text-mining Protein Localization Evidence Scores proteins co-occuring with the low-density lipoprotein particle cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset. |
very-low-density lipoprotein particle Gene SetFrom COMPARTMENTS Text-mining Protein Localization Evidence Scores proteins co-occuring with the very-low-density lipoprotein particle cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset. |
very low density lipoprotein triglyceride Gene SetFrom CTD Gene-Chemical Interactions genes/proteins interacting with the chemical very low density lipoprotein triglyceride from the curated CTD Gene-Chemical Interactions dataset. |
Low Molecular Weight Proteinuria with Hypercalciuria and Nephrocalcinosis Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Low Molecular Weight Proteinuria with Hypercalciuria and Nephrocalcinosis from the curated CTD Gene-Disease Associations dataset. |
Low Back Pain Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Low Back Pain from the curated CTD Gene-Disease Associations dataset. |
Cardiac Output, Low Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Cardiac Output, Low from the curated CTD Gene-Disease Associations dataset. |
Vision, Low Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Vision, Low from the curated CTD Gene-Disease Associations dataset. |
low tension glaucoma Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease low tension glaucoma in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
low compliance bladder Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease low compliance bladder in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
low mpa exposure and acute rejection in mmf/tacrolimus-treated kidney transplant patients Gene SetFrom GAD Gene-Disease Associations genes associated with the disease low mpa exposure and acute rejection in mmf/tacrolimus-treated kidney transplant patients in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
ache, low back; intervertebral disk displacement; spinal osteophytosis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease ache, low back; intervertebral disk displacement; spinal osteophytosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
low plasma levels of factor viic Gene SetFrom GAD Gene-Disease Associations genes associated with the disease low plasma levels of factor viic in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
glaucoma, open-angle; low tension glaucoma Gene SetFrom GAD Gene-Disease Associations genes associated with the disease glaucoma, open-angle; low tension glaucoma in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
low insulin and cholesterol levels Gene SetFrom GAD Gene-Disease Associations genes associated with the disease low insulin and cholesterol levels in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
high triglyceride/ low hdl cholesterol levels Gene SetFrom GAD Gene-Disease Associations genes associated with the disease high triglyceride/ low hdl cholesterol levels in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
cardiac output, low Gene SetFrom GAD Gene-Disease Associations genes associated with the disease cardiac output, low in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
low tension glaucoma Gene SetFrom GAD Gene-Disease Associations genes associated with the disease low tension glaucoma in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
high neuroticism and low agreeableness Gene SetFrom GAD Gene-Disease Associations genes associated with the disease high neuroticism and low agreeableness in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
low amplitude p300 waves Gene SetFrom GAD Gene-Disease Associations genes associated with the disease low amplitude p300 waves in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
plasma apob and low density lipoprotein (ldl) cholesterol levels Gene SetFrom GAD Gene-Disease Associations genes associated with the disease plasma apob and low density lipoprotein (ldl) cholesterol levels in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
low high-density lipoprotein cholesterol concentration Gene SetFrom GAD Gene-Disease Associations genes associated with the disease low high-density lipoprotein cholesterol concentration in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
serum low-density lipoprotein metabolism Gene SetFrom GAD Gene-Disease Associations genes associated with the disease serum low-density lipoprotein metabolism in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
macular degeneration; vision, low Gene SetFrom GAD Gene-Disease Associations genes associated with the disease macular degeneration; vision, low in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
longer telomeres at low folate nutritional status Gene SetFrom GAD Gene-Disease Associations genes associated with the disease longer telomeres at low folate nutritional status in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
low back pain Gene SetFrom GAD Gene-Disease Associations genes associated with the disease low back pain in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
low hepatic lipase activity Gene SetFrom GAD Gene-Disease Associations genes associated with the disease low hepatic lipase activity in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
low cetp activity Gene SetFrom GAD Gene-Disease Associations genes associated with the disease low cetp activity in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
very low bone mass Gene SetFrom GAD Gene-Disease Associations genes associated with the disease very low bone mass in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
apoplexy; giant cell arteritis; polymyalgia rheumatica; stroke; temporal arteritis; vision, low Gene SetFrom GAD Gene-Disease Associations genes associated with the disease apoplexy; giant cell arteritis; polymyalgia rheumatica; stroke; temporal arteritis; vision, low in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
oxidized low-density lipoprotein and cardiolipin autoantibodies Gene SetFrom GAD Gene-Disease Associations genes associated with the disease oxidized low-density lipoprotein and cardiolipin autoantibodies in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
low bone-mineral density and rapid postmenopausal bone loss Gene SetFrom GAD Gene-Disease Associations genes associated with the disease low bone-mineral density and rapid postmenopausal bone loss in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
total and low-density lipoprotein cholesterol Gene SetFrom GAD Gene-Disease Associations genes associated with the disease total and low-density lipoprotein cholesterol in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
high or low factor xiii specific activity. Gene SetFrom GAD Gene-Disease Associations genes associated with the disease high or low factor xiii specific activity. in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
low-level lead exposure Gene SetFrom GAD Gene-Disease Associations genes associated with the disease low-level lead exposure in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
glaucoma, open-angle; low tension glaucoma; ocular hypertension Gene SetFrom GAD Gene-Disease Associations genes associated with the disease glaucoma, open-angle; low tension glaucoma; ocular hypertension in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
high and low levels of cholesterol Gene SetFrom GAD Gene-Disease Associations genes associated with the disease high and low levels of cholesterol in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
low-density lipoprotein cholesterol levels Gene SetFrom GAD Gene-Disease Associations genes associated with the disease low-density lipoprotein cholesterol levels in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
reduced low-density lipoprotein particle size Gene SetFrom GAD Gene-Disease Associations genes associated with the disease reduced low-density lipoprotein particle size in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
resistance in vitro to low-dose aspirin Gene SetFrom GAD Gene-Disease Associations genes associated with the disease resistance in vitro to low-dose aspirin in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
low birthweight Gene SetFrom GAD Gene-Disease Associations genes associated with the disease low birthweight in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
coronary heart disease and serum very low density lipopro Gene SetFrom GAD Gene-Disease Associations genes associated with the disease coronary heart disease and serum very low density lipopro in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
low expression of nb1 Gene SetFrom GAD Gene-Disease Associations genes associated with the disease low expression of nb1 in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
cardiac output, low; disease progression Gene SetFrom GAD Gene-Disease Associations genes associated with the disease cardiac output, low; disease progression in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
low Gene SetFrom GeneRIF Biological Term Annotations genes co-occuring with the biological term low in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset. |
AIRE_KO_GDS2274_245_mouse_Medullary thymic epithelial cells (with low CD80 expression) Gene SetFrom GEO Signatures of Differentially Expressed Genes for Gene Perturbations genes differentially expressed following the AIRE_KO_GDS2274_245_mouse_Medullary thymic epithelial cells (with low CD80 expression) gene perturbation from the GEO Signatures of Differentially Expressed Genes for Gene Perturbations dataset. |
low-density lipoprotein receptor particle metabolic process Gene SetFrom GO Biological Process Annotations 2015 genes participating in the low-density lipoprotein receptor particle metabolic process biological process from the curated GO Biological Process Annotations 2015 dataset. |
negative regulation of low-density lipoprotein particle receptor catabolic process Gene SetFrom GO Biological Process Annotations 2015 genes participating in the negative regulation of low-density lipoprotein particle receptor catabolic process biological process from the curated GO Biological Process Annotations 2015 dataset. |
regulation of very-low-density lipoprotein particle remodeling Gene SetFrom GO Biological Process Annotations 2015 genes participating in the regulation of very-low-density lipoprotein particle remodeling biological process from the curated GO Biological Process Annotations 2015 dataset. |
regulation of very-low-density lipoprotein particle clearance Gene SetFrom GO Biological Process Annotations 2015 genes participating in the regulation of very-low-density lipoprotein particle clearance biological process from the curated GO Biological Process Annotations 2015 dataset. |
response to low light intensity stimulus Gene SetFrom GO Biological Process Annotations 2015 genes participating in the response to low light intensity stimulus biological process from the curated GO Biological Process Annotations 2015 dataset. |
very-low-density lipoprotein particle clearance Gene SetFrom GO Biological Process Annotations 2015 genes participating in the very-low-density lipoprotein particle clearance biological process from the curated GO Biological Process Annotations 2015 dataset. |
positive regulation of low-density lipoprotein particle receptor catabolic process Gene SetFrom GO Biological Process Annotations 2015 genes participating in the positive regulation of low-density lipoprotein particle receptor catabolic process biological process from the curated GO Biological Process Annotations 2015 dataset. |
positive regulation of very-low-density lipoprotein particle remodeling Gene SetFrom GO Biological Process Annotations 2015 genes participating in the positive regulation of very-low-density lipoprotein particle remodeling biological process from the curated GO Biological Process Annotations 2015 dataset. |
response to low-density lipoprotein particle Gene SetFrom GO Biological Process Annotations 2015 genes participating in the response to low-density lipoprotein particle biological process from the curated GO Biological Process Annotations 2015 dataset. |
positive regulation of low-density lipoprotein particle receptor biosynthetic process Gene SetFrom GO Biological Process Annotations 2015 genes participating in the positive regulation of low-density lipoprotein particle receptor biosynthetic process biological process from the curated GO Biological Process Annotations 2015 dataset. |
receptor-mediated endocytosis of low-density lipoprotein particle involved in cholesterol transport Gene SetFrom GO Biological Process Annotations 2015 genes participating in the receptor-mediated endocytosis of low-density lipoprotein particle involved in cholesterol transport biological process from the curated GO Biological Process Annotations 2015 dataset. |
low-density lipoprotein particle clearance Gene SetFrom GO Biological Process Annotations 2015 genes participating in the low-density lipoprotein particle clearance biological process from the curated GO Biological Process Annotations 2015 dataset. |
negative regulation of low-density lipoprotein particle clearance Gene SetFrom GO Biological Process Annotations 2015 genes participating in the negative regulation of low-density lipoprotein particle clearance biological process from the curated GO Biological Process Annotations 2015 dataset. |
negative regulation of very-low-density lipoprotein particle remodeling Gene SetFrom GO Biological Process Annotations 2015 genes participating in the negative regulation of very-low-density lipoprotein particle remodeling biological process from the curated GO Biological Process Annotations 2015 dataset. |
low-density lipoprotein particle mediated signaling Gene SetFrom GO Biological Process Annotations 2015 genes participating in the low-density lipoprotein particle mediated signaling biological process from the curated GO Biological Process Annotations 2015 dataset. |
cellular response to low-density lipoprotein particle stimulus Gene SetFrom GO Biological Process Annotations 2015 genes participating in the cellular response to low-density lipoprotein particle stimulus biological process from the curated GO Biological Process Annotations 2015 dataset. |
regulation of low-density lipoprotein particle receptor biosynthetic process Gene SetFrom GO Biological Process Annotations 2015 genes participating in the regulation of low-density lipoprotein particle receptor biosynthetic process biological process from the curated GO Biological Process Annotations 2015 dataset. |
regulation of low-density lipoprotein particle clearance Gene SetFrom GO Biological Process Annotations 2015 genes participating in the regulation of low-density lipoprotein particle clearance biological process from the curated GO Biological Process Annotations 2015 dataset. |
low-density lipoprotein particle remodeling Gene SetFrom GO Biological Process Annotations 2015 genes participating in the low-density lipoprotein particle remodeling biological process from the curated GO Biological Process Annotations 2015 dataset. |
very-low-density lipoprotein particle assembly Gene SetFrom GO Biological Process Annotations 2015 genes participating in the very-low-density lipoprotein particle assembly biological process from the curated GO Biological Process Annotations 2015 dataset. |
low-density lipoprotein particle receptor biosynthetic process Gene SetFrom GO Biological Process Annotations 2015 genes participating in the low-density lipoprotein particle receptor biosynthetic process biological process from the curated GO Biological Process Annotations 2015 dataset. |
regulation of low-density lipoprotein particle receptor catabolic process Gene SetFrom GO Biological Process Annotations 2015 genes participating in the regulation of low-density lipoprotein particle receptor catabolic process biological process from the curated GO Biological Process Annotations 2015 dataset. |
low-density lipoprotein particle receptor catabolic process Gene SetFrom GO Biological Process Annotations 2015 genes participating in the low-density lipoprotein particle receptor catabolic process biological process from the curated GO Biological Process Annotations 2015 dataset. |
negative regulation of very-low-density lipoprotein particle clearance Gene SetFrom GO Biological Process Annotations 2015 genes participating in the negative regulation of very-low-density lipoprotein particle clearance biological process from the curated GO Biological Process Annotations 2015 dataset. |
very-low-density lipoprotein particle remodeling Gene SetFrom GO Biological Process Annotations 2015 genes participating in the very-low-density lipoprotein particle remodeling biological process from the curated GO Biological Process Annotations 2015 dataset. |
negative regulation of low-density lipoprotein particle receptor biosynthetic process Gene SetFrom GO Biological Process Annotations 2015 genes participating in the negative regulation of low-density lipoprotein particle receptor biosynthetic process biological process from the curated GO Biological Process Annotations 2015 dataset. |
low-density lipoprotein particle Gene SetFrom GO Cellular Component Annotations 2015 proteins localized to the low-density lipoprotein particle cellular component from the curated GO Cellular Component Annotations 2015 dataset. |
very-low-density lipoprotein particle Gene SetFrom GO Cellular Component Annotations 2015 proteins localized to the very-low-density lipoprotein particle cellular component from the curated GO Cellular Component Annotations 2015 dataset. |
low-affinity sodium:dicarboxylate symporter activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the low-affinity sodium:dicarboxylate symporter activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
low-density lipoprotein particle binding Gene SetFrom GO Molecular Function Annotations 2015 genes performing the low-density lipoprotein particle binding molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
very-low-density lipoprotein particle binding Gene SetFrom GO Molecular Function Annotations 2015 genes performing the very-low-density lipoprotein particle binding molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
low voltage-gated calcium channel activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the low voltage-gated calcium channel activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
very-low-density lipoprotein particle receptor activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the very-low-density lipoprotein particle receptor activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
low-density lipoprotein particle receptor binding Gene SetFrom GO Molecular Function Annotations 2015 genes performing the low-density lipoprotein particle receptor binding molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
low-affinity phosphate transmembrane transporter activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the low-affinity phosphate transmembrane transporter activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
low-affinity l-arginine transmembrane transporter activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the low-affinity l-arginine transmembrane transporter activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
low-affinity glucose:sodium symporter activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the low-affinity glucose:sodium symporter activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
low-affinity basic amino acid transmembrane transporter activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the low-affinity basic amino acid transmembrane transporter activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
very-low-density lipoprotein particle receptor binding Gene SetFrom GO Molecular Function Annotations 2015 genes performing the very-low-density lipoprotein particle receptor binding molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
low-density lipoprotein receptor activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the low-density lipoprotein receptor activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
Blood pressure measurement (low sodium intervention) Gene SetFrom GWAS Catalog SNP-Phenotype Associations genes associated with the Blood pressure measurement (low sodium intervention) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset. |
low alkaline phosphatase Gene SetFrom HPO Gene-Disease Associations genes associated with the low alkaline phosphatase phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
low gonadotropins (secondary hypogonadism) Gene SetFrom HPO Gene-Disease Associations genes associated with the low gonadotropins (secondary hypogonadism) phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
low cholesterol esterification rates Gene SetFrom HPO Gene-Disease Associations genes associated with the low cholesterol esterification rates phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
increased circulating very-low-density lipoprotein cholesterol Gene SetFrom HPO Gene-Disease Associations genes associated with the increased circulating very-low-density lipoprotein cholesterol phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
low-to-normal blood pressure Gene SetFrom HPO Gene-Disease Associations genes associated with the low-to-normal blood pressure phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
low-frequency hearing loss Gene SetFrom HPO Gene-Disease Associations genes associated with the low-frequency hearing loss phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
low-molecular-weight proteinuria Gene SetFrom HPO Gene-Disease Associations genes associated with the low-molecular-weight proteinuria phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
low-frequency sensorineural hearing impairment Gene SetFrom HPO Gene-Disease Associations genes associated with the low-frequency sensorineural hearing impairment phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
low-set, posteriorly rotated ears Gene SetFrom HPO Gene-Disease Associations genes associated with the low-set, posteriorly rotated ears phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
low anterior hairline Gene SetFrom HPO Gene-Disease Associations genes associated with the low anterior hairline phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
low plasma citrulline Gene SetFrom HPO Gene-Disease Associations genes associated with the low plasma citrulline phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
low posterior hairline Gene SetFrom HPO Gene-Disease Associations genes associated with the low posterior hairline phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
abnormally low-pitched voice Gene SetFrom HPO Gene-Disease Associations genes associated with the abnormally low-pitched voice phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
low maternal serum estriol Gene SetFrom HPO Gene-Disease Associations genes associated with the low maternal serum estriol phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
low urinary cyclic amp response to pth administration Gene SetFrom HPO Gene-Disease Associations genes associated with the low urinary cyclic amp response to pth administration phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
low back pain Gene SetFrom HPO Gene-Disease Associations genes associated with the low back pain phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
low-set ears Gene SetFrom HPO Gene-Disease Associations genes associated with the low-set ears phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
low frustration tolerance Gene SetFrom HPO Gene-Disease Associations genes associated with the low frustration tolerance phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
low hanging columella Gene SetFrom HPO Gene-Disease Associations genes associated with the low hanging columella phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
low-set nipples Gene SetFrom HPO Gene-Disease Associations genes associated with the low-set nipples phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
Low Back Pain Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Low Back Pain phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
Cardiac Output, Low Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Cardiac Output, Low phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
Low Tension Glaucoma Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Low Tension Glaucoma phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
Vision, Low Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Vision, Low phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
Low temperature viability protein Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Low temperature viability protein protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Protein-tyrosine phosphatase, low molecular weight Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Protein-tyrosine phosphatase, low molecular weight protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Low-density lipoprotein (LDL) receptor class A, conserved site Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Low-density lipoprotein (LDL) receptor class A, conserved site protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Low density lipoprotein receptor-related protein, 5/6 Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Low density lipoprotein receptor-related protein, 5/6 protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Protein-tyrosine phosphatase, low molecular weight, mammalian Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Protein-tyrosine phosphatase, low molecular weight, mammalian protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Low-density lipoprotein (LDL) receptor class A repeat Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Low-density lipoprotein (LDL) receptor class A repeat protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
increased ly6c low monocyte number Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the increased ly6c low monocyte number phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
abnormal ly6c low monocyte number Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the abnormal ly6c low monocyte number phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
low mean erythrocyte cell number Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the low mean erythrocyte cell number phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
low sweet preference Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the low sweet preference phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
plasma triglyceride level qtl, low Gene SetFrom OMIM Gene-Disease Associations genes associated with the plasma triglyceride level qtl, low phenotype from the curated OMIM Gene-Disease Associations dataset. |
{low renin hypertension, susceptibility to} Gene SetFrom OMIM Gene-Disease Associations genes associated with the {low renin hypertension, susceptibility to} phenotype from the curated OMIM Gene-Disease Associations dataset. |
{high density lipoprotein cholesterol, low serum, 3} Gene SetFrom OMIM Gene-Disease Associations genes associated with the {high density lipoprotein cholesterol, low serum, 3} phenotype from the curated OMIM Gene-Disease Associations dataset. |
{low density lipoprotein cholesterol level qtl 1} Gene SetFrom OMIM Gene-Disease Associations genes associated with the {low density lipoprotein cholesterol level qtl 1} phenotype from the curated OMIM Gene-Disease Associations dataset. |
proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis Gene SetFrom OMIM Gene-Disease Associations genes associated with the proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis phenotype from the curated OMIM Gene-Disease Associations dataset. |
[low density lipoprotein cholesterol level qtl 3] Gene SetFrom OMIM Gene-Disease Associations genes associated with the [low density lipoprotein cholesterol level qtl 3] phenotype from the curated OMIM Gene-Disease Associations dataset. |
[low density lipoprotein cholesterol level qtl6] Gene SetFrom OMIM Gene-Disease Associations genes associated with the [low density lipoprotein cholesterol level qtl6] phenotype from the curated OMIM Gene-Disease Associations dataset. |
{bone mineral density, low, susceptibility to} Gene SetFrom OMIM Gene-Disease Associations genes associated with the {bone mineral density, low, susceptibility to} phenotype from the curated OMIM Gene-Disease Associations dataset. |
Low Vision Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Low Vision in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Low Tension Glaucoma Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Low Tension Glaucoma in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Low Grade Glioma Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Low Grade Glioma in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
B-Cell Malignancy, Low-Grade Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease B-Cell Malignancy, Low-Grade in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Low Phospholipid-Associated Cholelithiasis Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Low Phospholipid-Associated Cholelithiasis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Polymorphous Low Grade Adenocarcinoma Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Polymorphous Low Grade Adenocarcinoma in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Low Back Pain, Mechanical Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Low Back Pain, Mechanical in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Infant, Very Low Birth Weight Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Infant, Very Low Birth Weight in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Low Density Lipoprotein Receptor Mutation Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Low Density Lipoprotein Receptor Mutation in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Low Grade Squamous Intraepithelial Neoplasia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Low Grade Squamous Intraepithelial Neoplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Low Set Ears Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Low Set Ears in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Low Grade Serous Carcinoma Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Low Grade Serous Carcinoma in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Low-Renin Essential Hypertension Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Low-Renin Essential Hypertension in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Low Grade Myofibroblastic Sarcoma Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Low Grade Myofibroblastic Sarcoma in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Low-Grade Fibromyxoid Sarcoma Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Low-Grade Fibromyxoid Sarcoma in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Salivary Gland Low Grade Cribriform Cystadenocarcinoma Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Salivary Gland Low Grade Cribriform Cystadenocarcinoma in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Msi-Low Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Msi-Low in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Vasopressin Low Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Vasopressin Low in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Low Grade Lymphoma (Neoplasm) Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Low Grade Lymphoma (Neoplasm) in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Low Grade B-Cell Lymphoma Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Low Grade B-Cell Lymphoma in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Low Grade Prostatic Intraepithelial Neoplasia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Low Grade Prostatic Intraepithelial Neoplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Low Grade Endometrial Stromal Sarcoma Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Low Grade Endometrial Stromal Sarcoma in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Chronic Low Back Pain Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Chronic Low Back Pain in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Astrocytoma, Low-Grade, Somatic Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Astrocytoma, Low-Grade, Somatic in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Papillary Transitional Cell Neoplasm Of Low Malignant Potential Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Papillary Transitional Cell Neoplasm Of Low Malignant Potential in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Low Grade Dysplastic Nodule Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Low Grade Dysplastic Nodule in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Low Grade Ductal Breast Carcinoma In Situ Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Low Grade Ductal Breast Carcinoma In Situ in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Low-Grade Salivary Gland Carcinoma Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Low-Grade Salivary Gland Carcinoma in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Low Grade Central Osteosarcoma Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Low Grade Central Osteosarcoma in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Low Grade Cervical Squamous Intraepithelial Neoplasia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Low Grade Cervical Squamous Intraepithelial Neoplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Low Grade Malignant Peripheral Nerve Sheath Tumor Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Low Grade Malignant Peripheral Nerve Sheath Tumor in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Low Molecular Weight Proteinuria With Hypercalciuria And Nephrocalcinosis Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Low Molecular Weight Proteinuria With Hypercalciuria And Nephrocalcinosis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Low Frequency Deafness Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Low Frequency Deafness in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Low Grade Fibromyxoid Sarcoma With Giant Collagen Rosettes Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Low Grade Fibromyxoid Sarcoma With Giant Collagen Rosettes in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Abnormally Low-Pitched Voice Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Abnormally Low-Pitched Voice in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Low Grade Gastric Intraepithelial Neoplasia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Low Grade Gastric Intraepithelial Neoplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Low Grade Astrocytic Tumor Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Low Grade Astrocytic Tumor in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Low Grade Appendiceal Mucinous Neoplasm Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Low Grade Appendiceal Mucinous Neoplasm in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Low Grade B-Cell Non-Hodgkin'S Lymphoma Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Low Grade B-Cell Non-Hodgkin'S Lymphoma in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Primary Low Grade Serous Adenocarcinoma Of Ovary Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Primary Low Grade Serous Adenocarcinoma Of Ovary in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Low Grade Malignant Neoplasm Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Low Grade Malignant Neoplasm in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Low Anorectal Malformation Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Low Anorectal Malformation in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Low Density Lipoprotein Receptor Adaptor Protein 1 Mutation Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Low Density Lipoprotein Receptor Adaptor Protein 1 Mutation in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Polymorphous Low Grade Adenocarcinoma Of Salivary Gland Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Polymorphous Low Grade Adenocarcinoma Of Salivary Gland in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Low-Output Congestive Heart Failure Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Low-Output Congestive Heart Failure in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Zinc Deficiency, Neonatal, Due To Low Breast Milk Zinc Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Zinc Deficiency, Neonatal, Due To Low Breast Milk Zinc in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Ulcerative Colitis-Associated Low-Grade Dysplasia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Ulcerative Colitis-Associated Low-Grade Dysplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Low Density Lipoprotein Cholesterol Measurement Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Low Density Lipoprotein Cholesterol Measurement in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Low Posterior Hairline Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Low Posterior Hairline in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Low-Set, Posteriorly Rotated Ears Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Low-Set, Posteriorly Rotated Ears in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Very Low Birth Weight Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Very Low Birth Weight in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Low Anterior Hairline Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Low Anterior Hairline in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Low Back Pain Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Low Back Pain in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Low Density Lipoprotein Increased Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Low Density Lipoprotein Increased in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Prothrombin Time Low Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Prothrombin Time Low in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Low Hanging Columella Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Low Hanging Columella in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Infant, Extremely Low Birth Weight Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Infant, Extremely Low Birth Weight in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Low Pulse Pressure Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Low Pulse Pressure in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Low Alkaline Phosphatase Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Low Alkaline Phosphatase in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Low Plasma Citrulline Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Low Plasma Citrulline in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Serum Creatinine Low Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Serum Creatinine Low in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Acute Low Back Pain Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Acute Low Back Pain in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Low Serum Estradiol Levels Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Low Serum Estradiol Levels in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Low Self-Esteem Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Low Self-Esteem in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Low Grade Fever Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Low Grade Fever in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Serum Iron Low (Finding) Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Serum Iron Low (Finding) in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Mch - Low Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Mch - Low in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Low Density Lipoprotein Cholesterol Level Quantitative Trait Locus 6 Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Low Density Lipoprotein Cholesterol Level Quantitative Trait Locus 6 in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Low-Molecular-Weight Proteinuria Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Low-Molecular-Weight Proteinuria in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Low-To-Normal Blood Pressure Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Low-To-Normal Blood Pressure in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Low Maternal Serum Estriol Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Low Maternal Serum Estriol in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Low Serum Calcitriol Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Low Serum Calcitriol in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Low Frustration Tolerance Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Low Frustration Tolerance in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Low-Set Nipples Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Low-Set Nipples in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Low Urinary Cyclic Amp Response To Pth Administration Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Low Urinary Cyclic Amp Response To Pth Administration in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Low Iq Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Low Iq in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Low Density Lipoprotein Cholesterol Level Quantitative Trait Locus 3 Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Low Density Lipoprotein Cholesterol Level Quantitative Trait Locus 3 in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Low Renal Threshold For Glucose Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Low Renal Threshold For Glucose in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Abnormally Low T Cell Receptor Excision Circle Level Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Abnormally Low T Cell Receptor Excision Circle Level in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Low Csf 5-Methyltetrahydrofolate Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Low Csf 5-Methyltetrahydrofolate in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Low Density Lipoprotein Cholesterol Level Quantitative Trait Locus 8 Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Low Density Lipoprotein Cholesterol Level Quantitative Trait Locus 8 in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Low 1-Minute Apgar Score Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Low 1-Minute Apgar Score in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Low Cardiac Output Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Low Cardiac Output in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Low Density Lipoprotein Cholesterol Level Quantitative Trait Locus 1 Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Low Density Lipoprotein Cholesterol Level Quantitative Trait Locus 1 in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Low Back Pain, Posterior Compartment Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Low Back Pain, Posterior Compartment in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Low Back Pain, Postural Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Low Back Pain, Postural in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Recurrent Low Back Pain Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Recurrent Low Back Pain in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Low Apgar Score Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Low Apgar Score in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Low Insertion Of Columella Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Low Insertion Of Columella in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Low-Frequency Sensorineural Hearing Impairment Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Low-Frequency Sensorineural Hearing Impairment in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
cellular response to oxidised low-density lipoprotein particle stimulus Gene SetFrom GO Biological Process Annotations 2023 genes participating in the cellular response to oxidised low-density lipoprotein particle stimulus biological process from the curated GO Biological Process Annotations 2023 dataset. |
low-density lipoprotein particle remodeling Gene SetFrom GO Biological Process Annotations 2023 genes participating in the low-density lipoprotein particle remodeling biological process from the curated GO Biological Process Annotations 2023 dataset. |
very-low-density lipoprotein particle assembly Gene SetFrom GO Biological Process Annotations 2023 genes participating in the very-low-density lipoprotein particle assembly biological process from the curated GO Biological Process Annotations 2023 dataset. |
cellular response to low-density lipoprotein particle stimulus Gene SetFrom GO Biological Process Annotations 2023 genes participating in the cellular response to low-density lipoprotein particle stimulus biological process from the curated GO Biological Process Annotations 2023 dataset. |
negative regulation of low-density lipoprotein particle clearance Gene SetFrom GO Biological Process Annotations 2023 genes participating in the negative regulation of low-density lipoprotein particle clearance biological process from the curated GO Biological Process Annotations 2023 dataset. |
negative regulation of very-low-density lipoprotein particle remodeling Gene SetFrom GO Biological Process Annotations 2023 genes participating in the negative regulation of very-low-density lipoprotein particle remodeling biological process from the curated GO Biological Process Annotations 2023 dataset. |
positive regulation of low-density lipoprotein particle receptor catabolic process Gene SetFrom GO Biological Process Annotations 2023 genes participating in the positive regulation of low-density lipoprotein particle receptor catabolic process biological process from the curated GO Biological Process Annotations 2023 dataset. |
very-low-density lipoprotein particle remodeling Gene SetFrom GO Biological Process Annotations 2023 genes participating in the very-low-density lipoprotein particle remodeling biological process from the curated GO Biological Process Annotations 2023 dataset. |
regulation of cellular response to very-low-density lipoprotein particle stimulus Gene SetFrom GO Biological Process Annotations 2023 genes participating in the regulation of cellular response to very-low-density lipoprotein particle stimulus biological process from the curated GO Biological Process Annotations 2023 dataset. |
negative regulation of very-low-density lipoprotein particle clearance Gene SetFrom GO Biological Process Annotations 2023 genes participating in the negative regulation of very-low-density lipoprotein particle clearance biological process from the curated GO Biological Process Annotations 2023 dataset. |
positive regulation of very-low-density lipoprotein particle remodeling Gene SetFrom GO Biological Process Annotations 2023 genes participating in the positive regulation of very-low-density lipoprotein particle remodeling biological process from the curated GO Biological Process Annotations 2023 dataset. |
negative regulation of low-density lipoprotein receptor activity Gene SetFrom GO Biological Process Annotations 2023 genes participating in the negative regulation of low-density lipoprotein receptor activity biological process from the curated GO Biological Process Annotations 2023 dataset. |
low-density lipoprotein particle mediated signaling Gene SetFrom GO Biological Process Annotations 2023 genes participating in the low-density lipoprotein particle mediated signaling biological process from the curated GO Biological Process Annotations 2023 dataset. |
negative regulation of low-density lipoprotein particle receptor catabolic process Gene SetFrom GO Biological Process Annotations 2023 genes participating in the negative regulation of low-density lipoprotein particle receptor catabolic process biological process from the curated GO Biological Process Annotations 2023 dataset. |
positive regulation of low-density lipoprotein particle clearance Gene SetFrom GO Biological Process Annotations 2023 genes participating in the positive regulation of low-density lipoprotein particle clearance biological process from the curated GO Biological Process Annotations 2023 dataset. |
positive regulation of low-density lipoprotein particle receptor binding Gene SetFrom GO Biological Process Annotations 2023 genes participating in the positive regulation of low-density lipoprotein particle receptor binding biological process from the curated GO Biological Process Annotations 2023 dataset. |
positive regulation of low-density lipoprotein receptor activity Gene SetFrom GO Biological Process Annotations 2023 genes participating in the positive regulation of low-density lipoprotein receptor activity biological process from the curated GO Biological Process Annotations 2023 dataset. |
regulation of low-density lipoprotein particle clearance Gene SetFrom GO Biological Process Annotations 2023 genes participating in the regulation of low-density lipoprotein particle clearance biological process from the curated GO Biological Process Annotations 2023 dataset. |
low-density lipoprotein particle receptor catabolic process Gene SetFrom GO Biological Process Annotations 2023 genes participating in the low-density lipoprotein particle receptor catabolic process biological process from the curated GO Biological Process Annotations 2023 dataset. |
negative regulation of low-density lipoprotein particle receptor binding Gene SetFrom GO Biological Process Annotations 2023 genes participating in the negative regulation of low-density lipoprotein particle receptor binding biological process from the curated GO Biological Process Annotations 2023 dataset. |
endosome to lysosome transport of low-density lipoprotein particle Gene SetFrom GO Biological Process Annotations 2023 genes participating in the endosome to lysosome transport of low-density lipoprotein particle biological process from the curated GO Biological Process Annotations 2023 dataset. |
regulation of very-low-density lipoprotein particle remodeling Gene SetFrom GO Biological Process Annotations 2023 genes participating in the regulation of very-low-density lipoprotein particle remodeling biological process from the curated GO Biological Process Annotations 2023 dataset. |
regulation of low-density lipoprotein particle receptor catabolic process Gene SetFrom GO Biological Process Annotations 2023 genes participating in the regulation of low-density lipoprotein particle receptor catabolic process biological process from the curated GO Biological Process Annotations 2023 dataset. |
regulation of very-low-density lipoprotein particle clearance Gene SetFrom GO Biological Process Annotations 2023 genes participating in the regulation of very-low-density lipoprotein particle clearance biological process from the curated GO Biological Process Annotations 2023 dataset. |
regulation of low-density lipoprotein particle receptor binding Gene SetFrom GO Biological Process Annotations 2023 genes participating in the regulation of low-density lipoprotein particle receptor binding biological process from the curated GO Biological Process Annotations 2023 dataset. |
low-density lipoprotein receptor particle metabolic process Gene SetFrom GO Biological Process Annotations 2023 genes participating in the low-density lipoprotein receptor particle metabolic process biological process from the curated GO Biological Process Annotations 2023 dataset. |
very-low-density lipoprotein particle Gene SetFrom GO Cellular Component Annotations 2023 proteins localized to the very-low-density lipoprotein particle cellular component from the curated GO Cellular Component Annotations 2023 dataset. |
low-density lipoprotein particle Gene SetFrom GO Cellular Component Annotations 2023 proteins localized to the low-density lipoprotein particle cellular component from the curated GO Cellular Component Annotations 2023 dataset. |
low-density lipoprotein particle receptor binding Gene SetFrom GO Molecular Function Annotations 2023 genes performing the low-density lipoprotein particle receptor binding molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
low voltage-gated calcium channel activity Gene SetFrom GO Molecular Function Annotations 2023 genes performing the low voltage-gated calcium channel activity molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
low-density lipoprotein particle binding Gene SetFrom GO Molecular Function Annotations 2023 genes performing the low-density lipoprotein particle binding molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
very-low-density lipoprotein particle receptor binding Gene SetFrom GO Molecular Function Annotations 2023 genes performing the very-low-density lipoprotein particle receptor binding molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
low-affinity IgE receptor activity Gene SetFrom GO Molecular Function Annotations 2023 genes performing the low-affinity IgE receptor activity molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
low-affinity IgG receptor activity Gene SetFrom GO Molecular Function Annotations 2023 genes performing the low-affinity IgG receptor activity molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
low-affinity glucose:sodium symporter activity Gene SetFrom GO Molecular Function Annotations 2023 genes performing the low-affinity glucose:sodium symporter activity molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
low-affinity sodium:dicarboxylate symporter activity Gene SetFrom GO Molecular Function Annotations 2023 genes performing the low-affinity sodium:dicarboxylate symporter activity molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
low-affinity phosphate transmembrane transporter activity Gene SetFrom GO Molecular Function Annotations 2023 genes performing the low-affinity phosphate transmembrane transporter activity molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
low mean erythrocyte cell number Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the low mean erythrocyte cell number phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
low sweet preference Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the low sweet preference phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
decreased CD103-positive CD11b-low dendritic cell number Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the decreased CD103-positive CD11b-low dendritic cell number phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
decreased Ly6C low monocyte number Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the decreased Ly6C low monocyte number phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
low preference for an addictive substance Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the low preference for an addictive substance phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
increased CD103-positive CD11b-low dendritic cell number Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the increased CD103-positive CD11b-low dendritic cell number phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
increased CD11b-low dendritic cell number Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the increased CD11b-low dendritic cell number phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
increased Ly6C low monocyte number Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the increased Ly6C low monocyte number phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
decreased CD11b-low dendritic cell number Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the decreased CD11b-low dendritic cell number phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
increased Ly6C low monocyte number Gene SetFrom IMPC Knockout Mouse Phenotypes gene knockouts causing the increased Ly6C low monocyte number phenotype in mic from the IMPC Knockout Mouse Phenotypes dataset. |
decreased CD11b-low dendritic cell number Gene SetFrom IMPC Knockout Mouse Phenotypes gene knockouts causing the decreased CD11b-low dendritic cell number phenotype in mic from the IMPC Knockout Mouse Phenotypes dataset. |
increased CD11b-low dendritic cell number Gene SetFrom IMPC Knockout Mouse Phenotypes gene knockouts causing the increased CD11b-low dendritic cell number phenotype in mic from the IMPC Knockout Mouse Phenotypes dataset. |
decreased Ly6C low monocyte number Gene SetFrom IMPC Knockout Mouse Phenotypes gene knockouts causing the decreased Ly6C low monocyte number phenotype in mic from the IMPC Knockout Mouse Phenotypes dataset. |
increased CD103-positive CD11b-low dendritic cell number Gene SetFrom IMPC Knockout Mouse Phenotypes gene knockouts causing the increased CD103-positive CD11b-low dendritic cell number phenotype in mic from the IMPC Knockout Mouse Phenotypes dataset. |
Claudin-low cell_Bladder_Human Gene SetFrom CellMarker Gene-Cell Type Associations genes associated with the Claudin-low cell_Bladder_Human cell type from the CellMarker Gene-Cell Type Associations dataset. |
Low-density neutrophil_Blood_Human Gene SetFrom CellMarker Gene-Cell Type Associations genes associated with the Low-density neutrophil_Blood_Human cell type from the CellMarker Gene-Cell Type Associations dataset. |
Liver_CT2_Eomes low Liver NK cell Gene SetFrom HuBMAP ASCT+B Annotations biomarker genes for the Liver_CT2_Eomes low Liver NK cell cell type from the HuBMAP ASCT+B dataset. |
Liver_CT2_TBet low Liver NK cell Gene SetFrom HuBMAP ASCT+B Annotations biomarker genes for the Liver_CT2_TBet low Liver NK cell cell type from the HuBMAP ASCT+B dataset. |
Liver_CT2_Eomes low Liver NK cell Gene SetFrom HuBMAP ASCT+B Augmented with RNA-seq Coexpression biomarker genes for the Liver_CT2_Eomes low Liver NK cell cell type from the HuBMAP ASCT+B Augmented with RNA-seq Coexpression dataset. |
Liver_CT2_TBet low Liver NK cell Gene SetFrom HuBMAP ASCT+B Augmented with RNA-seq Coexpression biomarker genes for the Liver_CT2_TBet low Liver NK cell cell type from the HuBMAP ASCT+B Augmented with RNA-seq Coexpression dataset. |
cellular response to oxidised low-density lipoprotein particle stimulus Gene SetFrom GO Biological Process Annotations 2025 genes participating in the cellular response to oxidised low-density lipoprotein particle stimulus biological process from the curated GO Biological Process Annotations 2025 dataset. |
low-density lipoprotein particle remodeling Gene SetFrom GO Biological Process Annotations 2025 genes participating in the low-density lipoprotein particle remodeling biological process from the curated GO Biological Process Annotations 2025 dataset. |
very-low-density lipoprotein particle assembly Gene SetFrom GO Biological Process Annotations 2025 genes participating in the very-low-density lipoprotein particle assembly biological process from the curated GO Biological Process Annotations 2025 dataset. |
cellular response to low-density lipoprotein particle stimulus Gene SetFrom GO Biological Process Annotations 2025 genes participating in the cellular response to low-density lipoprotein particle stimulus biological process from the curated GO Biological Process Annotations 2025 dataset. |
negative regulation of low-density lipoprotein particle clearance Gene SetFrom GO Biological Process Annotations 2025 genes participating in the negative regulation of low-density lipoprotein particle clearance biological process from the curated GO Biological Process Annotations 2025 dataset. |
negative regulation of very-low-density lipoprotein particle remodeling Gene SetFrom GO Biological Process Annotations 2025 genes participating in the negative regulation of very-low-density lipoprotein particle remodeling biological process from the curated GO Biological Process Annotations 2025 dataset. |
positive regulation of low-density lipoprotein particle receptor catabolic process Gene SetFrom GO Biological Process Annotations 2025 genes participating in the positive regulation of low-density lipoprotein particle receptor catabolic process biological process from the curated GO Biological Process Annotations 2025 dataset. |
very-low-density lipoprotein particle remodeling Gene SetFrom GO Biological Process Annotations 2025 genes participating in the very-low-density lipoprotein particle remodeling biological process from the curated GO Biological Process Annotations 2025 dataset. |
regulation of cellular response to very-low-density lipoprotein particle stimulus Gene SetFrom GO Biological Process Annotations 2025 genes participating in the regulation of cellular response to very-low-density lipoprotein particle stimulus biological process from the curated GO Biological Process Annotations 2025 dataset. |
negative regulation of very-low-density lipoprotein particle clearance Gene SetFrom GO Biological Process Annotations 2025 genes participating in the negative regulation of very-low-density lipoprotein particle clearance biological process from the curated GO Biological Process Annotations 2025 dataset. |
positive regulation of very-low-density lipoprotein particle remodeling Gene SetFrom GO Biological Process Annotations 2025 genes participating in the positive regulation of very-low-density lipoprotein particle remodeling biological process from the curated GO Biological Process Annotations 2025 dataset. |
low-density lipoprotein particle mediated signaling Gene SetFrom GO Biological Process Annotations 2025 genes participating in the low-density lipoprotein particle mediated signaling biological process from the curated GO Biological Process Annotations 2025 dataset. |
negative regulation of low-density lipoprotein receptor activity Gene SetFrom GO Biological Process Annotations 2025 genes participating in the negative regulation of low-density lipoprotein receptor activity biological process from the curated GO Biological Process Annotations 2025 dataset. |
negative regulation of low-density lipoprotein particle receptor catabolic process Gene SetFrom GO Biological Process Annotations 2025 genes participating in the negative regulation of low-density lipoprotein particle receptor catabolic process biological process from the curated GO Biological Process Annotations 2025 dataset. |
positive regulation of low-density lipoprotein particle clearance Gene SetFrom GO Biological Process Annotations 2025 genes participating in the positive regulation of low-density lipoprotein particle clearance biological process from the curated GO Biological Process Annotations 2025 dataset. |
positive regulation of low-density lipoprotein particle receptor binding Gene SetFrom GO Biological Process Annotations 2025 genes participating in the positive regulation of low-density lipoprotein particle receptor binding biological process from the curated GO Biological Process Annotations 2025 dataset. |
positive regulation of low-density lipoprotein receptor activity Gene SetFrom GO Biological Process Annotations 2025 genes participating in the positive regulation of low-density lipoprotein receptor activity biological process from the curated GO Biological Process Annotations 2025 dataset. |
regulation of low-density lipoprotein particle clearance Gene SetFrom GO Biological Process Annotations 2025 genes participating in the regulation of low-density lipoprotein particle clearance biological process from the curated GO Biological Process Annotations 2025 dataset. |
low-density lipoprotein particle receptor catabolic process Gene SetFrom GO Biological Process Annotations 2025 genes participating in the low-density lipoprotein particle receptor catabolic process biological process from the curated GO Biological Process Annotations 2025 dataset. |
negative regulation of low-density lipoprotein particle receptor binding Gene SetFrom GO Biological Process Annotations 2025 genes participating in the negative regulation of low-density lipoprotein particle receptor binding biological process from the curated GO Biological Process Annotations 2025 dataset. |
endosome to lysosome transport of low-density lipoprotein particle Gene SetFrom GO Biological Process Annotations 2025 genes participating in the endosome to lysosome transport of low-density lipoprotein particle biological process from the curated GO Biological Process Annotations 2025 dataset. |
regulation of very-low-density lipoprotein particle remodeling Gene SetFrom GO Biological Process Annotations 2025 genes participating in the regulation of very-low-density lipoprotein particle remodeling biological process from the curated GO Biological Process Annotations 2025 dataset. |
regulation of low-density lipoprotein particle receptor catabolic process Gene SetFrom GO Biological Process Annotations 2025 genes participating in the regulation of low-density lipoprotein particle receptor catabolic process biological process from the curated GO Biological Process Annotations 2025 dataset. |
regulation of very-low-density lipoprotein particle clearance Gene SetFrom GO Biological Process Annotations 2025 genes participating in the regulation of very-low-density lipoprotein particle clearance biological process from the curated GO Biological Process Annotations 2025 dataset. |
low-density lipoprotein receptor particle metabolic process Gene SetFrom GO Biological Process Annotations 2025 genes participating in the low-density lipoprotein receptor particle metabolic process biological process from the curated GO Biological Process Annotations 2025 dataset. |
very-low-density lipoprotein particle Gene SetFrom GO Cellular Component Annotations 2025 proteins localized to the very-low-density lipoprotein particle cellular component from the curated GO Cellular Component Annotations 2025 dataset. |
low-density lipoprotein particle Gene SetFrom GO Cellular Component Annotations 2025 proteins localized to the low-density lipoprotein particle cellular component from the curated GO Cellular Component Annotations 2025 dataset. |
low-density lipoprotein particle receptor binding Gene SetFrom GO Molecular Function Annotations 2025 genes performing the low-density lipoprotein particle receptor binding molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
low voltage-gated calcium channel activity Gene SetFrom GO Molecular Function Annotations 2025 genes performing the low voltage-gated calcium channel activity molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
low-density lipoprotein particle binding Gene SetFrom GO Molecular Function Annotations 2025 genes performing the low-density lipoprotein particle binding molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
very-low-density lipoprotein particle receptor binding Gene SetFrom GO Molecular Function Annotations 2025 genes performing the very-low-density lipoprotein particle receptor binding molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
low-affinity IgE receptor activity Gene SetFrom GO Molecular Function Annotations 2025 genes performing the low-affinity IgE receptor activity molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
low-affinity IgG receptor activity Gene SetFrom GO Molecular Function Annotations 2025 genes performing the low-affinity IgG receptor activity molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
low-affinity D-glucose:sodium symporter activity Gene SetFrom GO Molecular Function Annotations 2025 genes performing the low-affinity D-glucose:sodium symporter activity molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
low-affinity sodium:dicarboxylate symporter activity Gene SetFrom GO Molecular Function Annotations 2025 genes performing the low-affinity sodium:dicarboxylate symporter activity molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
low-affinity phosphate transmembrane transporter activity Gene SetFrom GO Molecular Function Annotations 2025 genes performing the low-affinity phosphate transmembrane transporter activity molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
Low tension glaucoma Gene SetFrom DISEASES Experimental Gene-Disease Association Evidence Scores 2025 genes associated with the disease Low tension glaucoma in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores 2025 dataset. |
Low grade glioma Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Low grade glioma in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Low tension glaucoma Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Low tension glaucoma in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Childhood low-grade glioma Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Childhood low-grade glioma in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
T2-low asthma Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease T2-low asthma in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Diffuse low-grade glioma, MAPK pathway–altered Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Diffuse low-grade glioma, MAPK pathway–altered in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Low compliance bladder Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Low compliance bladder in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Polymorphous low grade neuroepithelial tumour of the young Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Polymorphous low grade neuroepithelial tumour of the young in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
very-low-density lipoprotein particle Gene SetFrom COMPARTMENTS Curated Protein Localization Evidence Scores 2025 proteins localized to the very-low-density lipoprotein particle cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset. |
low-density lipoprotein particle Gene SetFrom COMPARTMENTS Curated Protein Localization Evidence Scores 2025 proteins localized to the low-density lipoprotein particle cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset. |
low-density lipoprotein particle Gene SetFrom COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 proteins co-occuring with the low-density lipoprotein particle cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset. |
very-low-density lipoprotein particle Gene SetFrom COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 proteins co-occuring with the very-low-density lipoprotein particle cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset. |
low-density lipoprotein receptor complex Gene SetFrom COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 proteins co-occuring with the low-density lipoprotein receptor complex cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset. |
Low density lipoprotein cholesterol level quantitative trait locus Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Low density lipoprotein cholesterol level quantitative trait locus phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Primary low grade serous adenocarcinoma of ovary Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Primary low grade serous adenocarcinoma of ovary phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Low phospholipid associated cholelithiasis Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Low phospholipid associated cholelithiasis phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Low-set ears Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Low-set ears phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Serum C-reactive protein concentration in low fat diet Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Serum C-reactive protein concentration in low fat diet phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Low high density lipoprotein cholesterol levels Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Low high density lipoprotein cholesterol levels phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Low bone mineral density (spine) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Low bone mineral density (spine) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Low bone mineral density (hip) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Low bone mineral density (hip) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Age-related hearing impairment (low/mid frequency) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Age-related hearing impairment (low/mid frequency) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Low density lipoprotein cholesterol levels Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Low density lipoprotein cholesterol levels phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Low HDL-cholesterol levels Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Low HDL-cholesterol levels phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Protein level change in low calorie diet obesity intervention Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Protein level change in low calorie diet obesity intervention phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Lung function in heavy smokers (low FEV1 vs high FEV1) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Lung function in heavy smokers (low FEV1 vs high FEV1) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Lung function (low FEV1 vs high FEV1) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Lung function (low FEV1 vs high FEV1) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Lung function in never smokers (low FEV1 vs average FEV1) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Lung function in never smokers (low FEV1 vs average FEV1) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Lung function in never smokers (low FEV1 vs high FEV1) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Lung function in never smokers (low FEV1 vs high FEV1) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Decreased low contrast letter acuity in multiple sclerosis Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Decreased low contrast letter acuity in multiple sclerosis phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Low tan response Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Low tan response phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Emphysema annual change measurement in smokers (percent low attenuation area) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Emphysema annual change measurement in smokers (percent low attenuation area) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Low hand grip strength (60 years and older) (EWGSOP) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Low hand grip strength (60 years and older) (EWGSOP) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Low hand grip strength (60 years and older) (FNIH) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Low hand grip strength (60 years and older) (FNIH) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Glaucoma (low intraocular pressure) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Glaucoma (low intraocular pressure) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Low myopia Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Low myopia phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Low myopia vs hyperopia Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Low myopia vs hyperopia phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Survival in microsatellite instability low/stable colorectal cancer Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Survival in microsatellite instability low/stable colorectal cancer phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Blood pressure measurement (low sodium intervention) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Blood pressure measurement (low sodium intervention) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Low urine pH Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Low urine pH phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
HIgh-sensitivity cardiac troponin T levels (high vs low) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the HIgh-sensitivity cardiac troponin T levels (high vs low) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Disrupted circadian rhythm (low relative amplitude of rest-activity cycles) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Disrupted circadian rhythm (low relative amplitude of rest-activity cycles) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Baseline cortisol levels in response to low dose short synacthen test in corticosteroid treated asthma Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Baseline cortisol levels in response to low dose short synacthen test in corticosteroid treated asthma phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Peak cortisol response to low dose short synacthen test in corticosteroid treated asthma Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Peak cortisol response to low dose short synacthen test in corticosteroid treated asthma phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Depressive symptom (low self-esteem) (ordinal trait) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Depressive symptom (low self-esteem) (ordinal trait) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Low white blood cell count Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Low white blood cell count phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Low white blood cell count (conditioned on rs2814778) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Low white blood cell count (conditioned on rs2814778) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Low susceptibility to hepatitis C infection Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Low susceptibility to hepatitis C infection phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Very low density lipoprotein cholesterol levels Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Very low density lipoprotein cholesterol levels phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Low vWF levels Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Low vWF levels phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
PMC7708794-mmc2.xlsx-DGE_table_Imm-high_vs_Imm-low-TFT_TBXT Gene SetFrom Rummagene Transcription Factor Associations 2026 target genes of the PMC7708794-mmc2.xlsx-DGE_table_Imm-high_vs_Imm-low-TFT_TBXT transcription factor from the Rummagene Transcription Factor Associations 2026 dataset. |
Lynch syndrome:Turcot syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Lynch syndrome:Turcot syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hereditary cancer-predisposing syndrome:Lynch syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hereditary cancer-predisposing syndrome:Lynch syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Zunich neuroectodermal syndrome:Zunich neuroectodermal syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Zunich neuroectodermal syndrome:Zunich neuroectodermal syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Von Hippel-Lindau syndrome:Hereditary cancer-predisposing syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Von Hippel-Lindau syndrome:Hereditary cancer-predisposing syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Noonan syndrome and Noonan-related syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Noonan syndrome and Noonan-related syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Lynch syndrome:Hereditary cancer-predisposing syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Lynch syndrome:Hereditary cancer-predisposing syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Lynch syndrome:Lynch syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Lynch syndrome:Lynch syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Marfan's syndrome:Marfan's syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Marfan's syndrome:Marfan's syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hereditary cancer-predisposing syndrome:Peutz-Jeghers syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hereditary cancer-predisposing syndrome:Peutz-Jeghers syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
IFAP syndrome with or without BRESHECK syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the IFAP syndrome with or without BRESHECK syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Lynch syndrome I:Lynch syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Lynch syndrome I:Lynch syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hereditary cancer-predisposing syndrome:Hereditary cancer-predisposing syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hereditary cancer-predisposing syndrome:Hereditary cancer-predisposing syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Miller-McKusick-Malvaux-Syndrome (3M Syndrome) Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Miller-McKusick-Malvaux-Syndrome (3M Syndrome) from the curated CTD Gene-Disease Associations dataset. |
Digeorge Syndrome/Velocardiofacial Syndrome Complex 2 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Digeorge Syndrome/Velocardiofacial Syndrome Complex 2 from the curated CTD Gene-Disease Associations 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. |
amyloidosis; behcet syndrome; familial mediterranean fever; irritable bowel syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease amyloidosis; behcet syndrome; familial mediterranean fever; irritable bowel syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
chromosome aberrations; chromosome abnormality; cystic fibrosis; klinefelter syndrome; klinefelter's syndrome; oligospermia; sex chromosome aberrations; translocation, genetic Gene SetFrom GAD Gene-Disease Associations genes associated with the disease chromosome aberrations; chromosome abnormality; cystic fibrosis; klinefelter syndrome; klinefelter's syndrome; oligospermia; sex chromosome aberrations; translocation, genetic in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
adult respiratory distress syndrome; respiratory distress syndrome, adult; sepsis; systemic infection; wounds and injuries Gene SetFrom GAD Gene-Disease Associations genes associated with the disease adult respiratory distress syndrome; respiratory distress syndrome, adult; sepsis; systemic infection; wounds and injuries 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. |
adult respiratory distress syndrome; multiple organ failure; respiratory distress syndrome, adult; wounds and injuries Gene SetFrom GAD Gene-Disease Associations genes associated with the disease adult respiratory distress syndrome; multiple organ failure; respiratory distress syndrome, adult; wounds and injuries in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
cornelia de lange syndrome; de lange syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease cornelia de lange syndrome; de lange syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
fatigue syndrome, chronic; fatigue syndrome; postviral Gene SetFrom GAD Gene-Disease Associations genes associated with the disease fatigue syndrome, chronic; fatigue syndrome; postviral 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. |
abnormalities, multiple; aortic aneurysm, thoracic; marfan syndrome; syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease abnormalities, multiple; aortic aneurysm, thoracic; marfan syndrome; syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
resp distress syndrome neonatal; respiratory distress syndrome, newborn Gene SetFrom GAD Gene-Disease Associations genes associated with the disease resp distress syndrome neonatal; respiratory distress syndrome, newborn in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
obstetric labor, premature; resp distress syndrome neonatal; respiratory distress syndrome, newborn; tachycardia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease obstetric labor, premature; resp distress syndrome neonatal; respiratory distress syndrome, newborn; tachycardia 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. |
bronchopulmonary dysplasia; resp distress syndrome neonatal; respiratory distress syndrome, newborn; respiratory tract infections Gene SetFrom GAD Gene-Disease Associations genes associated with the disease bronchopulmonary dysplasia; resp distress syndrome neonatal; respiratory distress syndrome, newborn; respiratory tract infections in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
lung diseases; resp distress syndrome neonatal; respiratory distress syndrome, newborn Gene SetFrom GAD Gene-Disease Associations genes associated with the disease lung diseases; resp distress syndrome neonatal; respiratory distress syndrome, newborn 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. |
restless legs syndrome; tourette syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease restless legs syndrome; tourette syndrome 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. |
fetal alcohol syndrome; syndrome; fetal, alcohol (dysmorphic) Gene SetFrom GAD Gene-Disease Associations genes associated with the disease fetal alcohol syndrome; syndrome; fetal, alcohol (dysmorphic) in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
behcet syndrome; uveomeningoencephalitic syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease behcet syndrome; uveomeningoencephalitic syndrome 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. |
autoimmune thyroiditis; helicobacter infections; thyroiditis, autoimmune; turner syndrome; xo syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease autoimmune thyroiditis; helicobacter infections; thyroiditis, autoimmune; turner syndrome; xo 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. |
autoimmune diseases; chromosome aberrations; chromosome abnormality; turner syndrome; xo syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease autoimmune diseases; chromosome aberrations; chromosome abnormality; turner syndrome; xo syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
melas syndrome; merrf syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease melas syndrome; merrf syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
haemolytic-uraemic syndrome; hemolytic-uremic syndrome; recurrence Gene SetFrom GAD Gene-Disease Associations genes associated with the disease haemolytic-uraemic syndrome; hemolytic-uremic syndrome; recurrence 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. |
abnormalities, multiple; genetic diseases, inborn; kallmann syndrome; syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease abnormalities, multiple; genetic diseases, inborn; kallmann syndrome; syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
angelman syndrome; rett syndrome; seizures Gene SetFrom GAD Gene-Disease Associations genes associated with the disease angelman syndrome; rett syndrome; seizures in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
arthritis; carpal tunnel syndrome; cryoglobulinemia; hepatitis c, chronic; sjogren's syndrome; thyroiditis, autoimmune Gene SetFrom GAD Gene-Disease Associations genes associated with the disease arthritis; carpal tunnel syndrome; cryoglobulinemia; hepatitis c, chronic; sjogren's syndrome; thyroiditis, autoimmune 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. |
escherichia coli infections; haemolytic-uraemic syndrome; hemolytic-uremic syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease escherichia coli infections; haemolytic-uraemic syndrome; hemolytic-uremic syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
adult respiratory distress syndrome; respiratory distress syndrome, adult Gene SetFrom GAD Gene-Disease Associations genes associated with the disease adult respiratory distress syndrome; respiratory distress syndrome, adult in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
digeorge syndrome; memory disorders; pharyngeal pouch; syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease digeorge syndrome; memory disorders; pharyngeal pouch; syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
adult respiratory distress syndrome; chromosome deletion; respiratory distress syndrome, adult Gene SetFrom GAD Gene-Disease Associations genes associated with the disease adult respiratory distress syndrome; chromosome deletion; respiratory distress syndrome, adult in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
abnormalities, multiple; heart defects, congenital; leopard syndrome; noonan syndrome; skin abnormalities Gene SetFrom GAD Gene-Disease Associations genes associated with the disease abnormalities, multiple; heart defects, congenital; leopard syndrome; noonan syndrome; skin abnormalities in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
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. |
cardiomyopathy, hypertrophic; hypertrophic cardiomyopathy; noonan syndrome; pulmonary valve stenosis; syndrome; turner's phenotype, karyotype normal Gene SetFrom GAD Gene-Disease Associations genes associated with the disease cardiomyopathy, hypertrophic; hypertrophic cardiomyopathy; noonan syndrome; pulmonary valve stenosis; syndrome; turner's phenotype, karyotype normal in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
chronic renal failure; haemolytic-uraemic syndrome; hemolytic-uremic syndrome; kidney failure, chronic Gene SetFrom GAD Gene-Disease Associations genes associated with the disease chronic renal failure; haemolytic-uraemic syndrome; hemolytic-uremic syndrome; kidney failure, chronic in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
metabolic syndrome ; metabolic syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease metabolic syndrome ; metabolic 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. |
digeorge syndrome; pharyngeal pouch; syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease digeorge syndrome; pharyngeal pouch; syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
fatigue; fatigue syndrome, chronic; fatigue syndrome; postviral Gene SetFrom GAD Gene-Disease Associations genes associated with the disease fatigue; fatigue syndrome, chronic; fatigue syndrome; postviral in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
haemolytic-uraemic syndrome; hemolytic-uremic syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease haemolytic-uraemic syndrome; hemolytic-uremic syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
abnormalities, multiple; congenital heart defects; craniofacial abnormalities; ectodermal dysplasia; heart defects, congenital; noonan syndrome; syndrome; turner's phenotype, karyotype normal Gene SetFrom GAD Gene-Disease Associations genes associated with the disease abnormalities, multiple; congenital heart defects; craniofacial abnormalities; ectodermal dysplasia; heart defects, congenital; noonan syndrome; syndrome; turner's phenotype, karyotype normal 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. |
birth weight; fetal alcohol syndrome; fetal growth retardation; intrauterine growth retardation; syndrome; fetal, alcohol (dysmorphic) Gene SetFrom GAD Gene-Disease Associations genes associated with the disease birth weight; fetal alcohol syndrome; fetal growth retardation; intrauterine growth retardation; syndrome; fetal, alcohol (dysmorphic) in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
meckel-gruber syndrome; abnormalities, multiple; congenital abnormalities; polydactyly; syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease meckel-gruber syndrome; abnormalities, multiple; congenital abnormalities; polydactyly; syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
antithrombin iii deficiency; gastrointestinal hemorrhage; protein c deficiency; protein s deficiency; splenomegaly; thrombophilia; turner syndrome; venous thrombosis; xo syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease antithrombin iii deficiency; gastrointestinal hemorrhage; protein c deficiency; protein s deficiency; splenomegaly; thrombophilia; turner syndrome; venous thrombosis; xo 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. |
carbohydrate metabolism, inborn errors; dyskinesias; dyskinetic syndrome; epilepsy; mental retardation; syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease carbohydrate metabolism, inborn errors; dyskinesias; dyskinetic syndrome; epilepsy; mental retardation; syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
chromosome aberrations; chromosome abnormality; klinefelter syndrome; klinefelter's syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease chromosome aberrations; chromosome abnormality; klinefelter syndrome; klinefelter's syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
brugada syndrome; chromosome deletion; death, sudden, cardiac; long qt syndrome; sudden cardiac death Gene SetFrom GAD Gene-Disease Associations genes associated with the disease brugada syndrome; chromosome deletion; death, sudden, cardiac; long qt syndrome; sudden cardiac death in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
hantavirus infections; hantavirus pulmonary syndrome; heart diseases; syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease hantavirus infections; hantavirus pulmonary syndrome; heart diseases; syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
adenomatous polyposis coli; bone neoplasms; epidermal cyst; gardner syndrome; gardner's syndrome; osteoma Gene SetFrom GAD Gene-Disease Associations genes associated with the disease adenomatous polyposis coli; bone neoplasms; epidermal cyst; gardner syndrome; gardner's syndrome; osteoma in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
acute lung injury; adult respiratory distress syndrome; respiratory distress syndrome, adult; sepsis; systemic infection Gene SetFrom GAD Gene-Disease Associations genes associated with the disease acute lung injury; adult respiratory distress syndrome; respiratory distress syndrome, adult; sepsis; systemic infection in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
down syndrome; ehlers-danlos syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease down syndrome; ehlers-danlos syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
arthritis; felty's syndrome; large granular lymphocyte syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease arthritis; felty's syndrome; large granular lymphocyte syndrome 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. |
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. |
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. |
heart-hand syndrome, holt-oram syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease heart-hand syndrome, holt-oram syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
gynecomastia; klinefelter syndrome; klinefelter's syndrome; oligospermia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease gynecomastia; klinefelter syndrome; klinefelter's syndrome; oligospermia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
adult respiratory distress syndrome; community-acquired infections; pneumonia; respiratory distress syndrome, adult; septic shock; shock, septic Gene SetFrom GAD Gene-Disease Associations genes associated with the disease adult respiratory distress syndrome; community-acquired infections; pneumonia; respiratory distress syndrome, adult; septic shock; shock, septic in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
congenital heart defects; digeorge syndrome; heart defects, congenital; pharyngeal pouch; syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease congenital heart defects; digeorge syndrome; heart defects, congenital; pharyngeal pouch; syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
aneurysm, dissecting; aortic aneurysm, thoracic; loeys-dietz syndrome; marfan syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease aneurysm, dissecting; aortic aneurysm, thoracic; loeys-dietz syndrome; marfan 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. |
haemolytic-uraemic syndrome; hematologic diseases; hemolytic-uremic syndrome; purpura, thrombocytopenic; thrombocytopenic purpura Gene SetFrom GAD Gene-Disease Associations genes associated with the disease haemolytic-uraemic syndrome; hematologic diseases; hemolytic-uremic syndrome; purpura, thrombocytopenic; thrombocytopenic purpura in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
dwarfism, pituitary; pituitary dwarfism; turner syndrome; xo syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease dwarfism, pituitary; pituitary dwarfism; turner syndrome; xo syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
stuve-wiedemann syndrome/schwartz-jampel type 2 syndrome Gene SetFrom OMIM Gene-Disease Associations genes associated with the stuve-wiedemann syndrome/schwartz-jampel type 2 syndrome phenotype from the curated OMIM Gene-Disease Associations dataset. |
digeorge syndrome/velocardiofacial syndrome complex-2 Gene SetFrom OMIM Gene-Disease Associations genes associated with the digeorge syndrome/velocardiofacial syndrome complex-2 phenotype from the curated OMIM Gene-Disease Associations dataset. |
ifap syndrome with or without bresheck syndrome Gene SetFrom OMIM Gene-Disease Associations genes associated with the ifap syndrome with or without bresheck syndrome phenotype from the curated OMIM Gene-Disease Associations dataset. |
Miller-Mckusick-Malvaux-Syndrome (3M Syndrome) Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Miller-Mckusick-Malvaux-Syndrome (3M Syndrome) in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Crouzon syndrome-acanthosis nigricans syndrome Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Crouzon syndrome-acanthosis nigricans syndrome from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Crouzon syndrome-acanthosis nigricans syndrome Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Crouzon syndrome-acanthosis nigricans syndrome in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Noonan syndrome and Noonan-related syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Noonan syndrome and Noonan-related syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Crouzon syndrome-acanthosis nigricans syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Crouzon syndrome-acanthosis nigricans syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
X-linked cerebral-cerebellar-coloboma syndrome syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the X-linked cerebral-cerebellar-coloboma syndrome syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Non-Richardson's syndrome vs Richardson's syndrome in progressive supranuclear palsy Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Non-Richardson's syndrome vs Richardson's syndrome in progressive supranuclear palsy phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Sarcoidosis (Lofgren's syndrome vs non-Lofgren's syndrome) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Sarcoidosis (Lofgren's syndrome vs non-Lofgren's syndrome) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
visceral fat deposits and the metabolic syndrome Gene SetFrom Biocarta Pathways proteins participating in the visceral fat deposits and the metabolic syndrome pathway from the Biocarta Pathways dataset. |
Branchiootic syndrome 3 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Branchiootic syndrome 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Bartter syndrome, type 3, with hypocalciuria Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Bartter syndrome, type 3, with hypocalciuria phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Retinal dystrophy, juvenile cataracts, and short stature syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Retinal dystrophy, juvenile cataracts, and short stature syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Multiple synostoses syndrome 3 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Multiple synostoses syndrome 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Sjögren-Larsson syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Sjögren-Larsson syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hennekam lymphangiectasia-lymphedema syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hennekam lymphangiectasia-lymphedema syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
UV-sensitive syndrome 3 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the UV-sensitive syndrome 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Myasthenic syndrome, presynaptic, congenital, with or without motor neuropathy Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Myasthenic syndrome, presynaptic, congenital, with or without motor neuropathy phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Foveal hypoplasia and presenile cataract syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Foveal hypoplasia and presenile cataract syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Short rib-polydactyly syndrome, Majewski type Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Short rib-polydactyly syndrome, Majewski type phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Char syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Char syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Fragile X syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Fragile X syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Shwachman syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Shwachman syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Greig cephalopolysyndactyly syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Greig cephalopolysyndactyly syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Melnick-Fraser syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Melnick-Fraser syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Marfan's syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Marfan's syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Melnick-Needles syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Melnick-Needles syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Branchiootorenal syndrome 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Branchiootorenal syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Megalencephaly polymicrogyria-polydactyly hydrocephalus syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Megalencephaly polymicrogyria-polydactyly hydrocephalus syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
PTEN hamartoma tumor syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the PTEN hamartoma tumor syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Lesch-Nyhan syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Lesch-Nyhan syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Oculofaciocardiodental syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Oculofaciocardiodental syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Robinow Sorauf syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Robinow Sorauf syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
17q2131 microdeletion syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the 17q2131 microdeletion syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Desbuquois syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Desbuquois syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Macrocephaly/autism syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Macrocephaly/autism syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Nephrotic syndrome, type 9 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Nephrotic syndrome, type 9 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Nephrotic syndrome, type 8 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Nephrotic syndrome, type 8 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mohr-Tranebjaerg syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mohr-Tranebjaerg syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria) Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria) phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Osteopenic nonfracture syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Osteopenic nonfracture syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Barakat syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Barakat syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Raine syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Raine syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Digitorenocerebral syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Digitorenocerebral syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Bare Lymphocyte Syndrome, Type II, Complementation Group D Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Bare Lymphocyte Syndrome, Type II, Complementation Group D phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Ataxia-telangiectasia syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Ataxia-telangiectasia syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Alport syndrome, autosomal recessive Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Alport syndrome, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Alstrom syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Alstrom syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hyperinsulinism-hyperammonemia syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hyperinsulinism-hyperammonemia syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Lynch syndrome II Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Lynch syndrome II phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Joubert syndrome 17 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Joubert syndrome 17 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Lethal multiple pterygium syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Lethal multiple pterygium syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
MORM syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the MORM syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Upshaw-Schulman syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Upshaw-Schulman syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hereditary cancer-predisposing syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hereditary cancer-predisposing syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Usher syndrome, type 1C Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Usher syndrome, type 1C phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Usher syndrome, type 1F Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Usher syndrome, type 1F phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Martsolf syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Martsolf syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Usher syndrome, type 1D Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Usher syndrome, type 1D phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Usher syndrome, type 1J Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Usher syndrome, type 1J phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Chromosome 2q32-q33 deletion syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Chromosome 2q32-q33 deletion syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Blepharophimosis-ptosis-intellectual disability syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Blepharophimosis-ptosis-intellectual disability syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Borrone Di Rocco Crovato syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Borrone Di Rocco Crovato syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hurler syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hurler syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Angelman syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Angelman syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Lig4 syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Lig4 syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mitochondrial DNA depletion syndrome 4B, MNGIE type Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mitochondrial DNA depletion syndrome 4B, MNGIE type phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Rubinstein-Taybi syndrome 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Rubinstein-Taybi syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hajdu-Cheney syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hajdu-Cheney syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hyperferritinemia cataract syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hyperferritinemia cataract syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Temtamy preaxial brachydactyly syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Temtamy preaxial brachydactyly syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mitochondrial DNA depletion syndrome 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mitochondrial DNA depletion syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hyperimmunoglobulin E syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hyperimmunoglobulin E syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Bannayan-Riley-Ruvalcaba syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Bannayan-Riley-Ruvalcaba syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Chudley-McCullough syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Chudley-McCullough syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Poretti-boltshauser syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Poretti-boltshauser syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Bosch-boonstra-schaaf optic atrophy syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Bosch-boonstra-schaaf optic atrophy syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Frank Ter Haar syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Frank Ter Haar syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Androgen resistance syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Androgen resistance syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hypoparathyroidism retardation dysmorphism syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hypoparathyroidism retardation dysmorphism syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Holt-Oram syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Holt-Oram syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Duane syndrome type 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Duane syndrome type 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Young Simpson syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Young Simpson syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Frasier syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Frasier syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
C-like syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the C-like syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Meier-Gorlin syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Meier-Gorlin syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Pili torti-deafness syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Pili torti-deafness syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Gorlin syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Gorlin syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Marshall syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Marshall syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Usher syndrome, type 2C Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Usher syndrome, type 2C phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Usher syndrome, type 2D Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Usher syndrome, type 2D phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Carpenter syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Carpenter syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Bernard-Soulier syndrome, type A2, autosomal dominant Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Bernard-Soulier syndrome, type A2, autosomal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Duane-radial ray syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Duane-radial ray syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Bardet-Biedl syndrome 19 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Bardet-Biedl syndrome 19 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Myasthenic syndrome, congenital, with pre- and postsynaptic defects Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Myasthenic syndrome, congenital, with pre- and postsynaptic defects phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
22q133 deletion syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the 22q133 deletion syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cutis laxa-corneal clouding-oligophrenia syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cutis laxa-corneal clouding-oligophrenia syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Craniofacial anomalies and anterior segment dysgenesis syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Craniofacial anomalies and anterior segment dysgenesis syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Bardet-Biedl syndrome 14 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Bardet-Biedl syndrome 14 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
TNF receptor-associated periodic fever syndrome (TRAPS) Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the TNF receptor-associated periodic fever syndrome (TRAPS) phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Waardenburg syndrome type 2A Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Waardenburg syndrome type 2A phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Steel syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Steel syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Chromosome 1q43-q44 deletion syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Chromosome 1q43-q44 deletion syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Roberts-SC phocomelia syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Roberts-SC phocomelia syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Bloom syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Bloom syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
McLeod neuroacanthocytosis syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the McLeod neuroacanthocytosis syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cerebrooculofacioskeletal syndrome 4 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cerebrooculofacioskeletal syndrome 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cerebrooculofacioskeletal syndrome 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cerebrooculofacioskeletal syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Nicolaides-Baraitser syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Nicolaides-Baraitser syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Nager syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Nager syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Chédiak-Higashi syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Chédiak-Higashi syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Kindler's syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Kindler's syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Carnevale syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Carnevale syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Kenny syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Kenny syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Episodic pain syndrome, familial, 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Episodic pain syndrome, familial, 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Rienhoff syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Rienhoff syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Usher syndrome, type 2A Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Usher syndrome, type 2A phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Weaver syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Weaver syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Lynch syndrome I Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Lynch syndrome I phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Ectodermal dysplasia/short stature syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Ectodermal dysplasia/short stature syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Siderius X-linked mental retardation syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Siderius X-linked mental retardation syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Lymphoproliferative syndrome, ebv-associated, autosomal, 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Lymphoproliferative syndrome, ebv-associated, autosomal, 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Kohlschutter's syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Kohlschutter's syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
X-linked mental retardation with marfanoid habitus syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the X-linked mental retardation with marfanoid habitus syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cerebro-oculo-facio-skeletal syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cerebro-oculo-facio-skeletal syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hypotrichosis-lymphedema-telangiectasia syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hypotrichosis-lymphedema-telangiectasia syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
LEOPARD syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the LEOPARD syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hermansky-Pudlak syndrome 9 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hermansky-Pudlak syndrome 9 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hermansky-Pudlak syndrome 4 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hermansky-Pudlak syndrome 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hermansky-Pudlak syndrome 5 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hermansky-Pudlak syndrome 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hermansky-Pudlak syndrome 6 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hermansky-Pudlak syndrome 6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hermansky-Pudlak syndrome 7 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hermansky-Pudlak syndrome 7 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hermansky-Pudlak syndrome 3 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hermansky-Pudlak syndrome 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Treacher collins syndrome 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Treacher collins syndrome 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Wiskott-Aldrich syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Wiskott-Aldrich syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Episodic pain syndrome, familial, 3 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Episodic pain syndrome, familial, 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hyper-IgE syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hyper-IgE syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Tourette Syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Tourette Syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Macrocephaly, macrosomia, facial dysmorphism syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Macrocephaly, macrosomia, facial dysmorphism syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Bartter syndrome antenatal type 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Bartter syndrome antenatal type 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Bartter syndrome antenatal type 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Bartter syndrome antenatal type 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Gamstorp-Wohlfart syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Gamstorp-Wohlfart syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Turcot syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Turcot syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Joubert syndrome 3 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Joubert syndrome 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Joubert syndrome 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Joubert syndrome 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Joubert syndrome 7 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Joubert syndrome 7 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Long QT syndrome 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Long QT syndrome 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Long QT syndrome 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Long QT syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Long QT syndrome 3 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Long QT syndrome 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Sick sinus syndrome 2, autosomal dominant Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Sick sinus syndrome 2, autosomal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hyaline fibromatosis syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hyaline fibromatosis syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Rigidity and multifocal seizure syndrome, lethal neonatal Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Rigidity and multifocal seizure syndrome, lethal neonatal phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Alopecia, neurologic defects, and endocrinopathy syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Alopecia, neurologic defects, and endocrinopathy syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Weill-Marchesani-like syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Weill-Marchesani-like syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Netherton syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Netherton syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Bartter syndrome, type 4b Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Bartter syndrome, type 4b phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Feingold syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Feingold syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Knuckle pads, deafness AND leukonychia syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Knuckle pads, deafness AND leukonychia syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Waardenburg syndrome type 4B Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Waardenburg syndrome type 4B phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Usher syndrome, type 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Usher syndrome, type 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Richieri Costa Pereira syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Richieri Costa Pereira syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Autoimmune lymphoproliferative syndrome, type 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Autoimmune lymphoproliferative syndrome, type 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Bartter syndrome type 4 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Bartter syndrome type 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Bartter syndrome type 3 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Bartter syndrome type 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Myasthenic syndrome, congenital, fast-channel Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Myasthenic syndrome, congenital, fast-channel phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type) Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type) phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Wilson-Turner X-linked mental retardation syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Wilson-Turner X-linked mental retardation syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Costello syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Costello syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Ochoa syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Ochoa syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Bruck syndrome 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Bruck syndrome 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Bruck syndrome 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Bruck syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Achalasia-alacrima syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Achalasia-alacrima syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cryptophthalmos syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cryptophthalmos syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Nijmegen breakage syndrome-like disorder Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Nijmegen breakage syndrome-like disorder phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Ehlers-Danlos-like syndrome due to tenascin-X deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Ehlers-Danlos-like syndrome due to tenascin-X deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Brugada syndrome 6 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Brugada syndrome 6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Brugada syndrome 5 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Brugada syndrome 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Brugada syndrome 4 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Brugada syndrome 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Brugada syndrome 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Brugada syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Brugada syndrome 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Brugada syndrome 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Ovarian hyperstimulation syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Ovarian hyperstimulation syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Otofaciocervical syndrome 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Otofaciocervical syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Kaufman oculocerebrofacial syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Kaufman oculocerebrofacial syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Stickler syndrome, type 5 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Stickler syndrome, type 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Stickler syndrome, type 4 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Stickler syndrome, type 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Stickler syndrome, type 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Stickler syndrome, type 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Branchiooculofacial syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Branchiooculofacial syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Karak syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Karak syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Long QT syndrome 12 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Long QT syndrome 12 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Long QT syndrome 13 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Long QT syndrome 13 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Long QT syndrome 10 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Long QT syndrome 10 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hermansky Pudlak syndrome 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hermansky Pudlak syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Tarsal carpal coalition syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Tarsal carpal coalition syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Jankovic Rivera syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Jankovic Rivera syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Nakajo syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Nakajo syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Chromosome Xq28 deletion syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Chromosome Xq28 deletion syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Fanconi-Bickel syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Fanconi-Bickel syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
short QT syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the short QT syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Smith-Lemli-Opitz syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Smith-Lemli-Opitz syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Von Hippel-Lindau syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Von Hippel-Lindau syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Joubert syndrome 10 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Joubert syndrome 10 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Joubert syndrome 13 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Joubert syndrome 13 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Joubert syndrome 14 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Joubert syndrome 14 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Joubert syndrome 16 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Joubert syndrome 16 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Usher syndrome, type 1B Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Usher syndrome, type 1B phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Usher syndrome, type 1G Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Usher syndrome, type 1G phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Ehlers-Danlos syndrome progeroid type Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Ehlers-Danlos syndrome progeroid type phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Larsen syndrome, dominant type Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Larsen syndrome, dominant type phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Ehlers-Danlos syndrome, musculocontractural type Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Ehlers-Danlos syndrome, musculocontractural type phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Temtamy syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Temtamy syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Birk Barel mental retardation dysmorphism syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Birk Barel mental retardation dysmorphism syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Alport syndrome, X-linked recessive Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Alport syndrome, X-linked recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hyperphosphatasia with mental retardation syndrome 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hyperphosphatasia with mental retardation syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hyperphosphatasia with mental retardation syndrome 3 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hyperphosphatasia with mental retardation syndrome 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hyperphosphatasia with mental retardation syndrome 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hyperphosphatasia with mental retardation syndrome 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hyperphosphatasia with mental retardation syndrome 4 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hyperphosphatasia with mental retardation syndrome 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hyperphosphatasia with mental retardation syndrome 5 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hyperphosphatasia with mental retardation syndrome 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Adenomatous polyposis coli:Gardner syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Adenomatous polyposis coli:Gardner syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Jervell and Lange-Nielsen syndrome 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Jervell and Lange-Nielsen syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Lethal congenital contracture syndrome 5 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Lethal congenital contracture syndrome 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Ehlers-Danlos syndrome, autosomal recessive, cardiac valvular form Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Ehlers-Danlos syndrome, autosomal recessive, cardiac valvular form phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Leprechaunism syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Leprechaunism syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Simpson-Golabi-Behmel syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Simpson-Golabi-Behmel syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Robinow syndrome, autosomal recessive, with brachy-syn-polydactyly Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Robinow syndrome, autosomal recessive, with brachy-syn-polydactyly phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
XFE progeroid syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the XFE progeroid syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Meckel syndrome type 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Meckel syndrome type 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Meckel syndrome type 3 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Meckel syndrome type 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Meckel syndrome type 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Meckel syndrome type 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Meckel syndrome type 4 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Meckel syndrome type 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Meckel syndrome type 5 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Meckel syndrome type 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Leigh syndrome due to mitochondrial complex I deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Leigh syndrome due to mitochondrial complex I deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Dysequilibrium syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Dysequilibrium syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Atypical hemolytic-uremic syndrome 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Atypical hemolytic-uremic syndrome 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Atypical hemolytic-uremic syndrome 3 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Atypical hemolytic-uremic syndrome 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Johanson-Blizzard syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Johanson-Blizzard syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
GRACILE syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the GRACILE syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
X-linked lymphoproliferative syndrome 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the X-linked lymphoproliferative syndrome 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Kowarski syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Kowarski syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
ADULT syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the ADULT syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Meckel-Gruber syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Meckel-Gruber syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
X-linked lymphoproliferative syndrome 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the X-linked lymphoproliferative syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Neutrophil immunodeficiency syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Neutrophil immunodeficiency syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Coffin-Lowry syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Coffin-Lowry syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Auriculocondylar syndrome 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Auriculocondylar syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Auriculocondylar syndrome 3 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Auriculocondylar syndrome 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Auriculocondylar syndrome 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Auriculocondylar syndrome 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Ehlers-Danlos syndrome, hydroxylysine-deficient Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Ehlers-Danlos syndrome, hydroxylysine-deficient phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Pierson syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Pierson syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Pfeiffer syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Pfeiffer syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Loeys-Dietz syndrome 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Loeys-Dietz syndrome 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Tricho-dento-osseous syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Tricho-dento-osseous syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mowat-Wilson syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mowat-Wilson syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Nephrotic syndrome, type 10 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Nephrotic syndrome, type 10 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Perrault syndrome 5 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Perrault syndrome 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Perrault syndrome 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Perrault syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Jensen syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Jensen syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Werner syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Werner syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Aarskog syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Aarskog syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Enamel-renal syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Enamel-renal syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Joubert syndrome 21 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Joubert syndrome 21 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Joubert syndrome 20 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Joubert syndrome 20 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Joubert syndrome 22 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Joubert syndrome 22 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Multiple synostoses syndrome 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Multiple synostoses syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Popliteal pterygium syndrome lethal type Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Popliteal pterygium syndrome lethal type phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Keutel syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Keutel syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Pitt-Hopkins syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Pitt-Hopkins syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Segawa syndrome, autosomal recessive Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Segawa syndrome, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Multiple pterygium syndrome Escobar type Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Multiple pterygium syndrome Escobar type phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Pitt-Hopkins-like syndrome 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Pitt-Hopkins-like syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Pitt-Hopkins-like syndrome 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Pitt-Hopkins-like syndrome 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Lynch syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Lynch syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital short bowel syndrome, X-linked Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital short bowel syndrome, X-linked phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
C syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the C syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Klippel-Feil syndrome 2, autosomal recessive Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Klippel-Feil syndrome 2, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Stiff skin syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Stiff skin syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Lenz microphthalmia syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Lenz microphthalmia syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Autosomal recessive hypohidrotic ectodermal dysplasia syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Autosomal recessive hypohidrotic ectodermal dysplasia syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Marshall/Stickler syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Marshall/Stickler syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Schwartz Jampel syndrome type 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Schwartz Jampel syndrome type 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Grebe syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Grebe syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Saethre-Chotzen syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Saethre-Chotzen syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Myasthenic syndrome, slow-channel congenital Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Myasthenic syndrome, slow-channel congenital phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Floating-Harbor syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Floating-Harbor syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Warburg micro syndrome 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Warburg micro syndrome 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Warburg micro syndrome 3 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Warburg micro syndrome 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Warburg micro syndrome 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Warburg micro syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hermansky-Pudlak syndrome 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hermansky-Pudlak syndrome 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Osler hemorrhagic telangiectasia syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Osler hemorrhagic telangiectasia syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Wieacker syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Wieacker syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Kabuki make-up syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Kabuki make-up syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cohen syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cohen syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Oligodontia-colorectal cancer syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Oligodontia-colorectal cancer syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Filippi syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Filippi syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Lethal congenital contractural syndrome 3 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Lethal congenital contractural syndrome 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Primrose syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Primrose syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Perrault syndrome 4 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Perrault syndrome 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Marshall-Smith syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Marshall-Smith syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Loeys-Dietz syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Loeys-Dietz syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Brittle cornea syndrome 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Brittle cornea syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Rotor syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Rotor syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Oral-facial-digital syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Oral-facial-digital syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Acrocallosal syndrome, Schinzel type Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Acrocallosal syndrome, Schinzel type phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Gray platelet syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Gray platelet syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mast syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mast syndrome 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. |
Meacham syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Meacham syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Stormorken syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Stormorken syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Opitz-Frias syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Opitz-Frias syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cardio-facio-cutaneous syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cardio-facio-cutaneous syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mitochondrial DNA depletion syndrome 11 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mitochondrial DNA depletion syndrome 11 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Kallmann syndrome 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Kallmann syndrome 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Kallmann syndrome 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Kallmann syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Kallmann syndrome 4 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Kallmann syndrome 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Kallmann syndrome 5 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Kallmann syndrome 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Kallmann syndrome 6 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Kallmann syndrome 6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Yunis Varon syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Yunis Varon syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cowden syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cowden syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mulibrey nanism syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mulibrey nanism syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Ohdo syndrome, X-linked Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Ohdo syndrome, X-linked phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Nephrotic syndrome, idiopathic, steroid-resistant Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Nephrotic syndrome, idiopathic, steroid-resistant phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Townes-Brocks-branchiootorenal-like syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Townes-Brocks-branchiootorenal-like syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
SeSAME syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the SeSAME syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Odontotrichomelic syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Odontotrichomelic syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Atrioventricular septal defect, partial, with heterotaxy syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Atrioventricular septal defect, partial, with heterotaxy syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Meckel syndrome, type 6 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Meckel syndrome, type 6 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. |
Lowe syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Lowe syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Ehlers-Danlos syndrome, type 7B Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Ehlers-Danlos syndrome, type 7B phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Ehlers-Danlos syndrome, musculocontractural type 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Ehlers-Danlos syndrome, musculocontractural type 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Multiple congenital anomalies-hypotonia-seizures syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Multiple congenital anomalies-hypotonia-seizures syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Rett syndrome, congenital variant Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Rett syndrome, congenital variant phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Van Maldergem syndrome 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Van Maldergem syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Robinow syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Robinow syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Bone marrow failure syndrome 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Bone marrow failure syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Orofaciodigital syndrome 6 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Orofaciodigital syndrome 6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Orofaciodigital syndrome 5 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Orofaciodigital syndrome 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Distichiasis-lymphedema syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Distichiasis-lymphedema syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Townes syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Townes syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Neu-Laxova syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Neu-Laxova syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Winchester syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Winchester syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Unverricht-Lundborg syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Unverricht-Lundborg syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Verheij syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Verheij syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Rapp-Hodgkin ectodermal dysplasia syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Rapp-Hodgkin ectodermal dysplasia syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Allan-Herndon-Dudley syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Allan-Herndon-Dudley syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Advanced sleep phase syndrome, familial, 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Advanced sleep phase syndrome, familial, 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Sick sinus syndrome 1, autosomal recessive Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Sick sinus syndrome 1, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Arterial tortuosity syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Arterial tortuosity syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Juvenile polyposis syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Juvenile polyposis syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Papillon-Lefèvre syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Papillon-Lefèvre syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Brown-vialetto-van laere syndrome 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Brown-vialetto-van laere syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Microcephaly, epilepsy, and diabetes syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Microcephaly, epilepsy, and diabetes syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Peters plus syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Peters plus syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Ulnar-mammary syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Ulnar-mammary syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Insulin-dependent diabetes mellitus secretory diarrhea syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Insulin-dependent diabetes mellitus secretory diarrhea syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Zunich neuroectodermal syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Zunich neuroectodermal syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Beckwith-Wiedemann syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Beckwith-Wiedemann syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Van Maldergem Wetzburger Verloes syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Van Maldergem Wetzburger Verloes syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Sotos' syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Sotos' syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Dyggve-Melchior-Clausen syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Dyggve-Melchior-Clausen syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Baraitser-Winter Syndrome 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Baraitser-Winter Syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Three M syndrome 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Three M syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Howel-Evans syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Howel-Evans syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Senior-Loken syndrome 7 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Senior-Loken syndrome 7 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Senior-Loken syndrome 4 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Senior-Loken syndrome 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Senior-Loken syndrome 5 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Senior-Loken syndrome 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Myasthenic syndrome, congenital, with tubular aggregates 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Myasthenic syndrome, congenital, with tubular aggregates 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Rhabdoid tumor predisposition syndrome 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Rhabdoid tumor predisposition syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Finnish congenital nephrotic syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Finnish congenital nephrotic syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Tatton-Brown-rahman syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Tatton-Brown-rahman syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
COACH syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the COACH syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Short rib polydactyly syndrome 5 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Short rib polydactyly syndrome 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Short rib polydactyly syndrome 6 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Short rib polydactyly syndrome 6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Enhanced s-cone syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Enhanced s-cone syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
X-linked hydrocephalus syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the X-linked hydrocephalus syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Acquired long QT syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Acquired long QT syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Van der Woude syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Van der Woude syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cornelia de Lange syndrome 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cornelia de Lange syndrome 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Sudden infant death syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Sudden infant death syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Dursun syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Dursun syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Carpenter syndrome 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Carpenter syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Li-Fraumeni syndrome 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Li-Fraumeni syndrome 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Haim-Munk syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Haim-Munk syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Knobloch syndrome 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Knobloch syndrome 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Carbohydrate-deficient glycoprotein syndrome type I Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Carbohydrate-deficient glycoprotein syndrome type I phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Advanced sleep phase syndrome, familial Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Advanced sleep phase syndrome, familial phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hypoplastic enamel-onycholysis-hypohidrosis syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hypoplastic enamel-onycholysis-hypohidrosis syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Bardet-Biedl syndrome 9 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Bardet-Biedl syndrome 9 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Bardet-Biedl syndrome 8 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Bardet-Biedl syndrome 8 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Bardet-Biedl syndrome 5 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Bardet-Biedl syndrome 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Bardet-Biedl syndrome 4 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Bardet-Biedl syndrome 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Bardet-Biedl syndrome 7 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Bardet-Biedl syndrome 7 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Bardet-Biedl syndrome 6 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Bardet-Biedl syndrome 6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Bardet-Biedl syndrome 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Bardet-Biedl syndrome 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Jarcho-Levin syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Jarcho-Levin syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Bardet-Biedl syndrome 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Bardet-Biedl syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cornelia de Lange syndrome 3 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cornelia de Lange syndrome 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cornelia de Lange syndrome 4 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cornelia de Lange syndrome 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cornelia de Lange syndrome 5 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cornelia de Lange syndrome 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Autosomal recessive Dejerine-Sottas syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Autosomal recessive Dejerine-Sottas syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Kabuki syndrome 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Kabuki syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hay-Wells syndrome of ectodermal dysplasia Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hay-Wells syndrome of ectodermal dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Reynolds syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Reynolds syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Glut1 deficiency syndrome 1, autosomal recessive Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Glut1 deficiency syndrome 1, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Joubert syndrome 12/15, digenic Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Joubert syndrome 12/15, digenic phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Serkal syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Serkal syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Marinesco-Sjögren syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Marinesco-Sjögren syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Seckel syndrome 8 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Seckel syndrome 8 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Seckel syndrome 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Seckel syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Seckel syndrome 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Seckel syndrome 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Seckel syndrome 7 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Seckel syndrome 7 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Neu-laxova syndrome 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Neu-laxova syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Urofacial syndrome 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Urofacial syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Gordon's syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Gordon's syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Arts syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Arts syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Noonan syndrome 8 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Noonan syndrome 8 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Noonan syndrome 5 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Noonan syndrome 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Noonan syndrome 4 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Noonan syndrome 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Noonan syndrome 7 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Noonan syndrome 7 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Noonan syndrome 6 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Noonan syndrome 6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Noonan syndrome 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Noonan syndrome 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Noonan syndrome 3 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Noonan syndrome 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
McKusick Kaufman syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the McKusick Kaufman syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Autoimmune polyglandular syndrome type 1, autosomal dominant Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Autoimmune polyglandular syndrome type 1, autosomal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Rubinstein-Taybi syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Rubinstein-Taybi syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Nephrotic syndrome, type 5, with or without ocular abnormalities Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Nephrotic syndrome, type 5, with or without ocular abnormalities phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
FG syndrome 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the FG syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Loeys-Dietz syndrome, type 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Loeys-Dietz syndrome, type 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Stickler syndrome type 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Stickler syndrome type 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Polyglandular autoimmune syndrome, type 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Polyglandular autoimmune syndrome, type 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Bernard-Soulier syndrome, type A1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Bernard-Soulier syndrome, type A1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Arthrogryposis renal dysfunction cholestasis syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Arthrogryposis renal dysfunction cholestasis syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
EEM syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the EEM syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cardiofaciocutaneous syndrome 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cardiofaciocutaneous syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
TARP syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the TARP syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME, TYPE I Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME, TYPE I phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Drash syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Drash syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Microcephaly, hiatal hernia and nephrotic syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Microcephaly, hiatal hernia and nephrotic syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Pallister-Hall syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Pallister-Hall syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Radial aplasia-thrombocytopenia syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Radial aplasia-thrombocytopenia syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Griscelli syndrome type 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Griscelli syndrome type 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Griscelli syndrome type 3 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Griscelli syndrome type 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Caudal regression syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Caudal regression syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Catel Manzke syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Catel Manzke syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Trichohepatoenteric syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Trichohepatoenteric syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cockayne syndrome type A Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cockayne syndrome type A phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Warsaw breakage syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Warsaw breakage syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Bardet-Biedl syndrome 10 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Bardet-Biedl syndrome 10 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Bardet-Biedl syndrome 13 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Bardet-Biedl syndrome 13 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Bardet-Biedl syndrome 12 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Bardet-Biedl syndrome 12 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Bardet-Biedl syndrome 15 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Bardet-Biedl syndrome 15 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Bardet-Biedl syndrome 17 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Bardet-Biedl syndrome 17 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Bardet-Biedl syndrome 16 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Bardet-Biedl syndrome 16 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Popliteal pterygium syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Popliteal pterygium syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
SHORT syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the SHORT syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Jervell and Lange-Nielsen syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Jervell and Lange-Nielsen syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Bainbridge-Ropers syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Bainbridge-Ropers syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Orofaciodigital syndrome xiv Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Orofaciodigital syndrome xiv phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Leigh syndrome, French Canadian type Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Leigh syndrome, French Canadian type phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
XERODERMA PIGMENTOSUM, TYPE F/COCKAYNE SYNDROME Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the XERODERMA PIGMENTOSUM, TYPE F/COCKAYNE SYNDROME phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Bent bone dysplasia syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Bent bone dysplasia syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Pachydermoperiostosis syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Pachydermoperiostosis syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Bardet-Biedl syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Bardet-Biedl syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Crouzon syndrome with acanthosis nigricans Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Crouzon syndrome with acanthosis nigricans phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Leigh syndrome due to mitochondrial complex II deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Leigh syndrome due to mitochondrial complex II deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Nance-Horan syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Nance-Horan syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Multiple mitochondrial dysfunctions syndrome 3 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Multiple mitochondrial dysfunctions syndrome 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Multiple mitochondrial dysfunctions syndrome 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Multiple mitochondrial dysfunctions syndrome 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Saethre-Chotzen syndrome with eyelid anomalies Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Saethre-Chotzen syndrome with eyelid anomalies phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Gerstmann-Straussler-Scheinker syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Gerstmann-Straussler-Scheinker syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Curry-Hall syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Curry-Hall syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Familial multiple polyposis syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Familial multiple polyposis syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Kartagener syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Kartagener syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cutis Gyrata syndrome of Beare and Stevenson Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cutis Gyrata syndrome of Beare and Stevenson phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Donnai Barrow syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Donnai Barrow syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Klippel-Feil syndrome 1, autosomal dominant Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Klippel-Feil syndrome 1, autosomal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Dubin-Johnson syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Dubin-Johnson syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Loeys-Dietz syndrome type 3 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Loeys-Dietz syndrome type 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Riddle syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Riddle syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cold-induced sweating syndrome 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cold-induced sweating syndrome 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Oto-palato-digital syndrome, type I Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Oto-palato-digital syndrome, type I phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cockayne syndrome, type B Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cockayne syndrome, type B phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Wagner syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Wagner syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
STICKLER SYNDROME, TYPE I, NONSYNDROMIC OCULAR Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the STICKLER SYNDROME, TYPE I, NONSYNDROMIC OCULAR phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Joubert syndrome 6 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Joubert syndrome 6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Schinzel-Giedion syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Schinzel-Giedion syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Bowen-Conradi syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Bowen-Conradi syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
ATR-X syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the ATR-X syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Gardner syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Gardner syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Baller-Gerold syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Baller-Gerold syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hypocalcemia, autosomal dominant 1, with bartter syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hypocalcemia, autosomal dominant 1, with bartter syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Spondylocarpotarsal synostosis syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Spondylocarpotarsal synostosis syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
LONG QT SYNDROME 14 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the LONG QT SYNDROME 14 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Renal coloboma syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Renal coloboma syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Menkes kinky-hair syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Menkes kinky-hair syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Legius syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Legius syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Joubert syndrome 9 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Joubert syndrome 9 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Autoimmune polyglandular syndrome type 1, with reversible metaphyseal dysplasia Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Autoimmune polyglandular syndrome type 1, with reversible metaphyseal dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Andermann syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Andermann syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Stickler syndrome, type 3 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Stickler syndrome, type 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Michels syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Michels syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Stocco dos Santos syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Stocco dos Santos syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Sotos syndrome 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Sotos syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Lenz-Majewski hyperostosis syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Lenz-Majewski hyperostosis syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Axenfeld-Rieger syndrome type 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Axenfeld-Rieger syndrome type 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Axenfeld-Rieger syndrome type 3 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Axenfeld-Rieger syndrome type 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Lethal congenital contracture syndrome 4 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Lethal congenital contracture syndrome 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mitchell-Riley syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mitchell-Riley syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Tietz syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Tietz syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Prune belly syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Prune belly syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |