Name

ERGIC1 Gene

endoplasmic reticulum-golgi intermediate compartment (ERGIC) 1

This gene encodes a cycling membrane protein which is an endoplasmic reticulum-golgi intermediate compartment (ERGIC) protein which interacts with other members of this protein family to increase their turnover. [provided by RefSeq, Jul 2008]

LAP Gene

Laryngeal adductor paralysis

TAM Gene

Myeloproliferative syndrome, transient (transient abnormal

PWP2 Gene

PWP2 periodic tryptophan protein homolog (yeast)

Enables RNA binding activity. Involved in ribosomal small subunit biogenesis. Part of small-subunit processome. [provided by Alliance of Genome Resources, Mar 2025]

SCZD10 Gene

schizophrenia disorder 10 (periodic catatonia)

NYS5 Gene

Nystagmus 5, infantile periodic alternating

LOC102724159 Gene

periodic tryptophan protein 2 homolog

LOC100288724 Gene

transient receptor potential cation channel, subfamily C, member 6 pseudogene

LOC392232 Gene

transient receptor potential cation channel, subfamily A, member 1 pseudogene

TRPC4AP Gene

transient receptor potential cation channel, subfamily C, member 4 associated protein

Enables phosphatase binding activity and ubiquitin-like ligase-substrate adaptor activity. Involved in protein ubiquitination and ubiquitin-dependent protein catabolic process via the C-end degron rule pathway. Part of Cul4A-RING E3 ubiquitin ligase complex. Is active in Cul4-RING E3 ubiquitin ligase complex. [provided by Alliance of Genome Resources, Mar 2025]

TRPC6P Gene

transient receptor potential cation channel, subfamily C, member 6 pseudogene

TRPM8 Gene

transient receptor potential cation channel, subfamily M, member 8

Predicted to enable ligand-gated calcium channel activity. Predicted to be involved in calcium ion transmembrane transport and positive regulation of cold-induced thermogenesis. Predicted to act upstream of or within several processes, including intracellular calcium ion homeostasis; response to cold; and thermoception. Located in plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

TRPM4 Gene

transient receptor potential cation channel, subfamily M, member 4

The protein encoded by this gene is a calcium-activated nonselective ion channel that mediates transport of monovalent cations across membranes, thereby depolarizing the membrane. The activity of the encoded protein increases with increasing intracellular calcium concentration, but this channel does not transport calcium. [provided by RefSeq, Mar 2016]

TRPM5 Gene

transient receptor potential cation channel, subfamily M, member 5

This gene encodes a member of the transient receptor potential (TRP) protein family, which is a diverse group of proteins with structural features typical of ion channels. This protein plays an important role in taste transduction, and has characteristics of a calcium-activated, non-selective cation channel that carries Na+, K+, and Cs+ ions equally well, but not Ca(2+) ions. It is activated by lower concentrations of intracellular Ca(2+), and inhibited by higher concentrations. It is also a highly temperature-sensitive, heat activated channel showing a steep increase of inward currents at temperatures between 15 and 35 degrees Celsius. This gene is located within the Beckwith-Wiedemann syndrome critical region-1 on chromosome 11p15.5, and has been shown to be imprinted, with exclusive expression from the paternal allele. [provided by RefSeq, Oct 2010]

TRPM6 Gene

transient receptor potential cation channel, subfamily M, member 6

This gene is predominantly expressed in the kidney and colon, and encodes a protein containing an ion channel domain and a protein kinase domain. It is crucial for magnesium homeostasis, and plays an essential role in epithelial magnesium transport and in the active magnesium absorption in the gut and kidney. Mutations in this gene are associated with hypomagnesemia with secondary hypocalcemia. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Apr 2010]

TRPM7 Gene

transient receptor potential cation channel, subfamily M, member 7

This gene belongs to the melastatin subfamily of transient receptor potential family of ion channels. The protein encoded by this gene is both an ion channel and a serine/threonine protein kinase. The kinase activity is essential for the ion channel function, which serves to increase intracellular calcium levels and to help regulate magnesium ion homeostasis. The encoded protein is involved in cytoskeletal organization, cell adhesion, cell migration and organogenesis. Defects in this gene are a cause of amyotrophic lateral sclerosis-parkinsonism/dementia complex of Guam. The gene may also be associated with defects of cardiac function. [provided by RefSeq, Aug 2017]

TRPM1 Gene

transient receptor potential cation channel, subfamily M, member 1

This gene encodes a member of the transient receptor potential melastatin subfamily of transient receptor potential ion channels. The encoded protein is a calcium permeable cation channel that is expressed in melanocytes and may play a role in melanin synthesis. Specific mutations in this gene are the cause autosomal recessive complete congenital stationary night blindness-1C. The expression of this protein is inversely correlated with melanoma aggressiveness and as such it is used as a prognostic marker for melanoma metastasis. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Oct 2011]

TRPM2 Gene

transient receptor potential cation channel, subfamily M, member 2

The protein encoded by this gene forms a tetrameric cation channel that is permeable to calcium, sodium, and potassium and is regulated by free intracellular ADP-ribose. The encoded protein is activated by oxidative stress and confers susceptibility to cell death. Alternative splicing results in multiple transcript variants encoding distinct protein isoforms. Additional transcript variants of this gene have been described, but their full-length nature is not known. [provided by RefSeq, Feb 2016]

TRPM3 Gene

transient receptor potential cation channel, subfamily M, member 3

The product of this gene belongs to the family of transient receptor potential (TRP) channels. TRP channels are cation-selective channels important for cellular calcium signaling and homeostasis. The protein encoded by this gene mediates calcium entry, and this entry is potentiated by calcium store depletion. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]

TRPV5 Gene

transient receptor potential cation channel, subfamily V, member 5

This gene is a member of the transient receptor family and the TrpV subfamily. The calcium-selective channel encoded by this gene has 6 transmembrane-spanning domains, multiple potential phosphorylation sites, an N-linked glycosylation site, and 5 ANK repeats. This protein forms homotetramers or heterotetramers and is activated by a low internal calcium level. [provided by RefSeq, Jul 2008]

TRPV4 Gene

transient receptor potential cation channel, subfamily V, member 4

This gene encodes a member of the OSM9-like transient receptor potential channel (OTRPC) subfamily in the transient receptor potential (TRP) superfamily of ion channels. The encoded protein is a Ca2+-permeable, nonselective cation channel that is thought to be involved in the regulation of systemic osmotic pressure. Mutations in this gene are the cause of spondylometaphyseal and metatropic dysplasia and hereditary motor and sensory neuropathy type IIC. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2010]

TRPV6 Gene

transient receptor potential cation channel, subfamily V, member 6

This gene encodes a member of a family of multipass membrane proteins that functions as calcium channels. The encoded protein contains N-terminal ankyrin repeats, which are required for channel assembly and regulation. Translation initiation for this protein occurs at a non-AUG start codon that is decoded as methionine. This gene is situated next to a closely related gene for transient receptor potential cation channel subfamily V member 5 (TRPV5). This locus has experienced positive selection in non-African populations, resulting in several non-synonymous codon differences among individuals of different genetic backgrounds. [provided by RefSeq, Feb 2015]

TRPV1 Gene

transient receptor potential cation channel, subfamily V, member 1

Capsaicin, the main pungent ingredient in hot chili peppers, elicits a sensation of burning pain by selectively activating sensory neurons that convey information about noxious stimuli to the central nervous system. The protein encoded by this gene is a receptor for capsaicin and is a non-selective cation channel that is structurally related to members of the TRP family of ion channels. This receptor is also activated by increases in temperature in the noxious range, suggesting that it functions as a transducer of painful thermal stimuli in vivo. Four transcript variants encoding the same protein, but with different 5' UTR sequence, have been described for this gene. [provided by RefSeq, Jul 2008]

TRPV3 Gene

transient receptor potential cation channel, subfamily V, member 3

This gene product belongs to a family of nonselective cation channels that function in a variety of processes, including temperature sensation and vasoregulation. The thermosensitive members of this family are expressed in subsets of sensory neurons that terminate in the skin, and are activated at distinct physiological temperatures. This channel is activated at temperatures between 22 and 40 degrees C. This gene lies in close proximity to another family member gene on chromosome 17, and the two encoded proteins are thought to associate with each other to form heteromeric channels. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012]

TRPV2 Gene

transient receptor potential cation channel, subfamily V, member 2

This gene encodes an ion channel that is activated by high temperatures above 52 degrees Celsius. The protein may be involved in transduction of high-temperature heat responses in sensory ganglia. It is thought that in other tissues the channel may be activated by stimuli other than heat. [provided by RefSeq, Jul 2008]

TRPC2 Gene

transient receptor potential cation channel, subfamily C, member 2, pseudogene

Predicted to enable diacylglycerol binding activity; inositol 1,4,5 trisphosphate binding activity; and store-operated calcium channel activity. Predicted to act upstream of or within several processes, including female courtship behavior; inter-male aggressive behavior; and mating behavior, sex discrimination. Predicted to be located in dendrite membrane and endomembrane system. [provided by Alliance of Genome Resources, Mar 2025]

TRPC3 Gene

transient receptor potential cation channel, subfamily C, member 3

The protein encoded by this gene is a membrane protein that can form a non-selective channel permeable to calcium and other cations. The encoded protein appears to be induced to form channels by a receptor tyrosine kinase-activated phosphatidylinositol second messenger system and also by depletion of intracellular calcium stores. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]

TRPC6 Gene

transient receptor potential cation channel, subfamily C, member 6

The protein encoded by this gene forms a receptor-activated calcium channel in the cell membrane. The channel is activated by diacylglycerol and is thought to be under the control of a phosphatidylinositol second messenger system. Activation of this channel occurs independently of protein kinase C and is not triggered by low levels of intracellular calcium. Defects in this gene are a cause of focal segmental glomerulosclerosis 2 (FSGS2). [provided by RefSeq, Mar 2009]

TRPC4 Gene

transient receptor potential cation channel, subfamily C, member 4

This gene encodes a member of the canonical subfamily of transient receptor potential cation channels. The encoded protein forms a non-selective calcium-permeable cation channel that is activated by Gq-coupled receptors and tyrosine kinases, and plays a role in multiple processes including endothelial permeability, vasodilation, neurotransmitter release and cell proliferation. Single nucleotide polymorphisms in this gene may be associated with generalized epilepsy with photosensitivity. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Aug 2011]

LOC100422502 Gene

transient receptor potential cation channel, subfamily C, member 6 pseudogene

LOC100422500 Gene

transient receptor potential cation channel, subfamily C, member 6 pseudogene

TNDM Gene

diabetes mellitus, transient neonatal

Transient neonatal diabetes mellitus is associated with overexpression of a region containing the PLAGL1 and HYMAI genes on chromosome 6q24. These genes are normally imprinted and expressed only from the paternal allele. Imprinting is regulated by differential methylation of a CpG island in this region. [provided by RefSeq, May 2015]

LOC650866 Gene

transient receptor potential cation channel, subfamily C, member 6 pseudogene

TRPA1 Gene

transient receptor potential cation channel, subfamily A, member 1

The structure of the protein encoded by this gene is highly related to both the protein ankyrin and transmembrane proteins. The specific function of this protein has not yet been determined; however, studies indicate the function may involve a role in signal transduction and growth control. [provided by RefSeq, Jul 2008]

PIRT Gene

phosphoinositide-interacting regulator of transient receptor potential channels

Predicted to enable phosphatidylinositol bisphosphate binding activity and transmembrane transporter binding activity. Predicted to be involved in regulation of sensory perception of pain. Predicted to act upstream of or within behavioral response to pain; positive regulation of cation channel activity; and response to heat. Predicted to be located in membrane. Predicted to be active in plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

TRPC1 Gene

transient receptor potential cation channel, subfamily C, member 1

The protein encoded by this gene is a membrane protein that can form a non-selective channel permeable to calcium and other cations. The encoded protein appears to be induced to form channels by a receptor tyrosine kinase-activated phosphatidylinositol second messenger system and also by depletion of intracellular calcium stores. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]

TRPC7 Gene

transient receptor potential cation channel, subfamily C, member 7

Predicted to enable inositol 1,4,5 trisphosphate binding activity and store-operated calcium channel activity. Predicted to be involved in calcium ion transmembrane transport; regulation of cytosolic calcium ion concentration; and single fertilization. Predicted to be located in membrane; nuclear envelope; and perinuclear region of cytoplasm. Predicted to be part of cation channel complex. Predicted to be active in plasma membrane. Implicated in lung cancer. [provided by Alliance of Genome Resources, Mar 2025]

TRPC5 Gene

transient receptor potential cation channel, subfamily C, member 5

This gene belongs to the transient receptor family. It encodes one of the seven mammalian TRPC (transient receptor potential channel) proteins. The encoded protein is a multi-pass membrane protein and is thought to form a receptor-activated non-selective calcium permeant cation channel. The protein is active alone or as a heteromultimeric assembly with TRPC1, TRPC3, and TRPC4. It also interacts with multiple proteins including calmodulin, CABP1, enkurin, Na(+)-H+ exchange regulatory factor (NHERF ), interferon-induced GTP-binding protein (MX1), ring finger protein 24 (RNF24), and SEC14 domain and spectrin repeat-containing protein 1 (SESTD1). [provided by RefSeq, May 2010]

Periodic Paralysis With Transient Compartment-Like Syndrome Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Periodic Paralysis With Transient Compartment-Like Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Normokalemic periodic paralysis, potassium-sensitive Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Normokalemic periodic paralysis, potassium-sensitive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Thyrotoxic periodic paralysis Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Thyrotoxic periodic paralysis phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hypokalemic periodic paralysis, type 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hypokalemic periodic paralysis, type 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hypokalemic periodic paralysis 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hypokalemic periodic paralysis 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hyperkalemic Periodic Paralysis Type 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hyperkalemic Periodic Paralysis Type 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 2 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 2 from the curated CTD Gene-Disease Associations dataset.

Paralysis, Hyperkalemic Periodic Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Paralysis, Hyperkalemic Periodic from the curated CTD Gene-Disease Associations dataset.

THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 1 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 1 from the curated CTD Gene-Disease Associations dataset.

Hypokalemic Periodic Paralysis, Type 2 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Hypokalemic Periodic Paralysis, Type 2 from the curated CTD Gene-Disease Associations dataset.

HYPOKALEMIC PERIODIC PARALYSIS, TYPE 1 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease HYPOKALEMIC PERIODIC PARALYSIS, TYPE 1 from the curated CTD Gene-Disease Associations dataset.

Hypokalemic Periodic Paralysis Gene Set

From CTD Gene-Disease Associations

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

hyperkalemic periodic paralysis Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores

genes involed in the disease hyperkalemic periodic paralysis from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

hypokalemic periodic paralysis Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores

genes involed in the disease hypokalemic periodic paralysis from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

familial periodic paralysis Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores

genes involed in the disease familial periodic paralysis from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

hyperkalemic periodic paralysis Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

genes co-occuring with the disease hyperkalemic periodic paralysis in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

hypokalemic periodic paralysis Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

genes co-occuring with the disease hypokalemic periodic paralysis in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

familial periodic paralysis Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

genes co-occuring with the disease familial periodic paralysis in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

periodic paralysis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease periodic paralysis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

thyrotoxic periodic paralysis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease thyrotoxic periodic paralysis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

periodic hyperkalemic paralysis Gene Set

From HPO Gene-Disease Associations

genes associated with the periodic hyperkalemic paralysis phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

periodic paralysis Gene Set

From HPO Gene-Disease Associations

genes associated with the periodic paralysis phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Paralysis, Hyperkalemic Periodic Gene Set

From HuGE Navigator Gene-Phenotype Associations

genes associated with the Paralysis, Hyperkalemic Periodic phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

Hypokalemic Periodic Paralysis Gene Set

From HuGE Navigator Gene-Phenotype Associations

genes associated with the Hypokalemic Periodic Paralysis phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

hyperkalemic periodic paralysis, type 2 Gene Set

From OMIM Gene-Disease Associations

genes associated with the hyperkalemic periodic paralysis, type 2 phenotype from the curated OMIM Gene-Disease Associations dataset.

{thyrotoxic periodic paralysis, susceptibility to, 1} Gene Set

From OMIM Gene-Disease Associations

genes associated with the {thyrotoxic periodic paralysis, susceptibility to, 1} phenotype from the curated OMIM Gene-Disease Associations dataset.

{thyrotoxic periodic paralysis, susceptibility to, 2} Gene Set

From OMIM Gene-Disease Associations

genes associated with the {thyrotoxic periodic paralysis, susceptibility to, 2} phenotype from the curated OMIM Gene-Disease Associations dataset.

hypokalemic periodic paralysis, type 2 Gene Set

From OMIM Gene-Disease Associations

genes associated with the hypokalemic periodic paralysis, type 2 phenotype from the curated OMIM Gene-Disease Associations dataset.

hypokalemic periodic paralysis, type 1 Gene Set

From OMIM Gene-Disease Associations

genes associated with the hypokalemic periodic paralysis, type 1 phenotype from the curated OMIM Gene-Disease Associations dataset.

Thyrotoxic Periodic Paralysis Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Thyrotoxic Periodic Paralysis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Familial Periodic Paralysis Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Familial Periodic Paralysis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Periodic Paralysis (Finding) Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Periodic Paralysis (Finding) in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Periodic Paralysis With Later-Onset Distal Motor Neuropathy Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Periodic Paralysis With Later-Onset Distal Motor Neuropathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Normokalemic Periodic Paralysis Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Normokalemic Periodic Paralysis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Hyperkalemic Periodic Paralysis Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Hyperkalemic Periodic Paralysis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Normokalemic Periodic Paralysis, Potassium-Sensitive Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Normokalemic Periodic Paralysis, Potassium-Sensitive in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Familial periodic paralysis Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores 2025

genes involed in the disease Familial periodic paralysis from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.

Hyperkalemic periodic paralysis Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores 2025

genes involed in the disease Hyperkalemic periodic paralysis from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.

Hypokalemic periodic paralysis Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores 2025

genes involed in the disease Hypokalemic periodic paralysis from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.

Hyperkalemic periodic paralysis Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Hyperkalemic periodic paralysis in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Familial periodic paralysis Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Familial periodic paralysis in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Hypokalemic periodic paralysis Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Hypokalemic periodic paralysis in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Familial hyperkalemic periodic paralysis Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Familial hyperkalemic periodic paralysis phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Paramyotonia congenita/hyperkalemic periodic paralysis Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Paramyotonia congenita/hyperkalemic periodic paralysis phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Hypokalemic periodic paralysis Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Hypokalemic periodic paralysis phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Normokalemic periodic paralysis Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Normokalemic periodic paralysis phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Thyrotoxic periodic paralysis Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Thyrotoxic periodic paralysis phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Thyrotoxic periodic paralysis Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Thyrotoxic periodic paralysis phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Thyrotoxic hypokalemic periodic paralysis Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Thyrotoxic hypokalemic periodic paralysis phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Thyrotoxic hypokalemic periodic paralysis and Graves disease Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Thyrotoxic hypokalemic periodic paralysis and Graves disease phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

apoplexy; ischemic attack, transient; stroke; transient ischemic attack Gene Set

From GAD Gene-Disease Associations

genes associated with the disease apoplexy; ischemic attack, transient; stroke; transient ischemic attack in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

apoplexy; atrial septal defects; brain ischemia; diabetes mellitus; heart septal defects, atrial; hypertension; intracranial thrombosis; ischemic attack, transient; stroke; transient ischemic attack Gene Set

From GAD Gene-Disease Associations

genes associated with the disease apoplexy; atrial septal defects; brain ischemia; diabetes mellitus; heart septal defects, atrial; hypertension; intracranial thrombosis; ischemic attack, transient; stroke; transient ischemic attack in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

diabetes complications; ischemic attack, transient; obesity; transient ischemic attack Gene Set

From GAD Gene-Disease Associations

genes associated with the disease diabetes complications; ischemic attack, transient; obesity; transient ischemic attack in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

apoplexy; arterial occlusive diseases; atherosclerosis; brain ischemia; carotid artery diseases; embolism; ischemic attack, transient; stroke; transient ischemic attack Gene Set

From GAD Gene-Disease Associations

genes associated with the disease apoplexy; arterial occlusive diseases; atherosclerosis; brain ischemia; carotid artery diseases; embolism; ischemic attack, transient; stroke; transient ischemic attack in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

apoplexy; brain ischemia; ischemic attack, transient; stroke; thrombosis; transient ischemic attack Gene Set

From GAD Gene-Disease Associations

genes associated with the disease apoplexy; brain ischemia; ischemic attack, transient; stroke; thrombosis; transient ischemic attack in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

carotid artery diseases; diabetes mellitus; ischemic attack, transient; transient ischemic attack Gene Set

From GAD Gene-Disease Associations

genes associated with the disease carotid artery diseases; diabetes mellitus; ischemic attack, transient; transient ischemic attack in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

apoplexy; cerebrovascular disorders; ischemic attack, transient; recurrence; stroke; transient ischemic attack Gene Set

From GAD Gene-Disease Associations

genes associated with the disease apoplexy; cerebrovascular disorders; ischemic attack, transient; recurrence; stroke; transient ischemic attack in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

apoplexy; coronary artery disease; hyperhomocysteinemia; ischemic attack, transient; stroke; transient ischemic attack Gene Set

From GAD Gene-Disease Associations

genes associated with the disease apoplexy; coronary artery disease; hyperhomocysteinemia; ischemic attack, transient; stroke; transient ischemic attack in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

compartment syndrome Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

genes co-occuring with the disease compartment syndrome in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

anterior compartment syndrome Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

genes co-occuring with the disease anterior compartment syndrome in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

Abdominal Compartment Syndrome Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Abdominal Compartment Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Compartment syndrome Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Compartment syndrome in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Anterior compartment syndrome Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Anterior compartment syndrome in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

TNF receptor-associated periodic fever syndrome (TRAPS) Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the TNF receptor-associated periodic fever syndrome (TRAPS) phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

tumor necrosis factor receptor-associated periodic syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease tumor necrosis factor receptor-associated periodic syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

periodic syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease periodic syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

Tnf Receptor-Associated Periodic Fever Syndrome (Traps) Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Tnf Receptor-Associated Periodic Fever Syndrome (Traps) in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Tumor Necrosis Factor Receptor 1-Associated Periodic Syndrome Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Tumor Necrosis Factor Receptor 1-Associated Periodic Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Tumor Necrosis Factor Receptor Associated Periodic Syndrome [Traps] Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Tumor Necrosis Factor Receptor Associated Periodic Syndrome [Traps] in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Periodic Fever Syndrome Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Periodic Fever Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Periodic Fever, Aphthous Stomatitis, Pharyngitis, Adenitis Syndrome Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Periodic Fever, Aphthous Stomatitis, Pharyngitis, Adenitis Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Periodic Syndrome Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Periodic Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Periodic Fever, Aphthous Stomatitis, Pharyngitis, And Adenopathy Syndrome [Pfapa] Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Periodic Fever, Aphthous Stomatitis, Pharyngitis, And Adenopathy Syndrome [Pfapa] in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Hyper-Igd Periodic Fever Syndrome (Hids) Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Hyper-Igd Periodic Fever Syndrome (Hids) in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Hyperimmunoglobulinemia D periodic fever syndrome Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Hyperimmunoglobulinemia D periodic fever syndrome in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Cryopyrin associated periodic syndrome Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Cryopyrin associated periodic syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

TNF receptor-associated periodic fever syndrome Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the TNF receptor-associated periodic fever syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Periodic fever-infantile enterocolitis-autoinflammatory syndrome Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Periodic fever-infantile enterocolitis-autoinflammatory syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Periodic fever syndrome Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Periodic fever syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

abnormalities, multiple; coloboma; congenital heart defects; disease models, animal; facial paralysis; heart defects, congenital; syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease abnormalities, multiple; coloboma; congenital heart defects; disease models, animal; facial paralysis; heart defects, congenital; syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

Ramsay Hunt Paralysis Syndrome Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Ramsay Hunt Paralysis Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Transient Myeloproliferative Disorder of Down Syndrome Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Transient Myeloproliferative Disorder of Down Syndrome from the curated CTD Gene-Disease Associations dataset.

Myeloproliferative Syndrome, Transient Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Myeloproliferative Syndrome, Transient from the curated CTD Gene-Disease Associations dataset.

leukemia, transient, of down syndrome Gene Set

From OMIM Gene-Disease Associations

genes associated with the leukemia, transient, of down syndrome phenotype from the curated OMIM Gene-Disease Associations dataset.

Transient Myeloproliferative Disorder Of Down Syndrome Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Transient Myeloproliferative Disorder Of Down Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Transient Nephrotic Syndrome Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Transient Nephrotic Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Transient myeloproliferative syndrome Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores 2025

genes involed in the disease Transient myeloproliferative syndrome from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.

Transient myeloproliferative syndrome Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Transient myeloproliferative syndrome in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Transient myeloproliferative syndrome Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Transient myeloproliferative syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

insulin-responsive compartment Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the insulin-responsive compartment cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

endoplasmic reticulum quality control compartment Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the endoplasmic reticulum quality control compartment cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

endoplasmic reticulum-golgi intermediate compartment Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the endoplasmic reticulum-golgi intermediate compartment cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

endoplasmic reticulum-golgi intermediate compartment membrane Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the endoplasmic reticulum-golgi intermediate compartment membrane cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

host cell viral assembly compartment Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the host cell viral assembly compartment cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

perinucleolar compartment Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the perinucleolar compartment cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

replication compartment Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the replication compartment cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

insulin-responsive compartment Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the insulin-responsive compartment cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

endoplasmic reticulum quality control compartment Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the endoplasmic reticulum quality control compartment cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

endoplasmic reticulum-golgi intermediate compartment membrane Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the endoplasmic reticulum-golgi intermediate compartment membrane cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

endoplasmic reticulum-golgi intermediate compartment Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the endoplasmic reticulum-golgi intermediate compartment cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

viral assembly compartment Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the viral assembly compartment cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

Compartment Syndromes Gene Set

From CTD Gene-Disease Associations

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

compartment Gene Set

From GeneRIF Biological Term Annotations

genes co-occuring with the biological term compartment in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.

anterior compartment pattern formation Gene Set

From GO Biological Process Annotations 2015

genes participating in the anterior compartment pattern formation biological process from the curated GO Biological Process Annotations 2015 dataset.

posterior compartment specification Gene Set

From GO Biological Process Annotations 2015

genes participating in the posterior compartment specification biological process from the curated GO Biological Process Annotations 2015 dataset.

compartment pattern specification Gene Set

From GO Biological Process Annotations 2015

genes participating in the compartment pattern specification biological process from the curated GO Biological Process Annotations 2015 dataset.

endoplasmic reticulum-golgi intermediate compartment organization Gene Set

From GO Biological Process Annotations 2015

genes participating in the endoplasmic reticulum-golgi intermediate compartment organization biological process from the curated GO Biological Process Annotations 2015 dataset.

ciliary inversin compartment Gene Set

From GO Cellular Component Annotations 2015

proteins localized to the ciliary inversin compartment cellular component from the curated GO Cellular Component Annotations 2015 dataset.

insulin-responsive compartment Gene Set

From GO Cellular Component Annotations 2015

proteins localized to the insulin-responsive compartment cellular component from the curated GO Cellular Component Annotations 2015 dataset.

endoplasmic reticulum quality control compartment Gene Set

From GO Cellular Component Annotations 2015

proteins localized to the endoplasmic reticulum quality control compartment cellular component from the curated GO Cellular Component Annotations 2015 dataset.

periciliary membrane compartment Gene Set

From GO Cellular Component Annotations 2015

proteins localized to the periciliary membrane compartment cellular component from the curated GO Cellular Component Annotations 2015 dataset.

endoplasmic reticulum-golgi intermediate compartment Gene Set

From GO Cellular Component Annotations 2015

proteins localized to the endoplasmic reticulum-golgi intermediate compartment cellular component from the curated GO Cellular Component Annotations 2015 dataset.

somatodendritic compartment Gene Set

From GO Cellular Component Annotations 2015

proteins localized to the somatodendritic compartment cellular component from the curated GO Cellular Component Annotations 2015 dataset.

endoplasmic reticulum-golgi intermediate compartment membrane Gene Set

From GO Cellular Component Annotations 2015

proteins localized to the endoplasmic reticulum-golgi intermediate compartment membrane cellular component from the curated GO Cellular Component Annotations 2015 dataset.

host cell viral assembly compartment Gene Set

From GO Cellular Component Annotations 2015

proteins localized to the host cell viral assembly compartment cellular component from the curated GO Cellular Component Annotations 2015 dataset.

endoplasmic reticulum-golgi intermediate compartment Gene Set

From LOCATE Curated Protein Localization Annotations

proteins localized to the endoplasmic reticulum-golgi intermediate compartment cellular component in low- or high-throughput protein localization assays from the LOCATE Curated Protein Localization Annotations dataset.

ER Quality Control Compartment (ERQC) Gene Set

From Reactome Pathways 2014

proteins participating in the ER Quality Control Compartment (ERQC) pathway from the Reactome Pathways dataset.

Low Back Pain, Posterior Compartment Gene Set

From 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.

anterior compartment pattern formation Gene Set

From GO Biological Process Annotations 2023

genes participating in the anterior compartment pattern formation biological process from the curated GO Biological Process Annotations 2023 dataset.

posterior compartment specification Gene Set

From GO Biological Process Annotations 2023

genes participating in the posterior compartment specification biological process from the curated GO Biological Process Annotations 2023 dataset.

endoplasmic reticulum-Golgi intermediate compartment organization Gene Set

From GO Biological Process Annotations 2023

genes participating in the endoplasmic reticulum-Golgi intermediate compartment organization biological process from the curated GO Biological Process Annotations 2023 dataset.

vesicle targeting, trans-Golgi to periciliary membrane compartment Gene Set

From GO Biological Process Annotations 2023

genes participating in the vesicle targeting, trans-Golgi to periciliary membrane compartment biological process from the curated GO Biological Process Annotations 2023 dataset.

protein localization to ciliary inversin compartment Gene Set

From GO Biological Process Annotations 2023

genes participating in the protein localization to ciliary inversin compartment biological process from the curated GO Biological Process Annotations 2023 dataset.

compartment pattern specification Gene Set

From GO Biological Process Annotations 2023

genes participating in the compartment pattern specification biological process from the curated GO Biological Process Annotations 2023 dataset.

endoplasmic reticulum-Golgi intermediate compartment membrane Gene Set

From GO Cellular Component Annotations 2023

proteins localized to the endoplasmic reticulum-Golgi intermediate compartment membrane cellular component from the curated GO Cellular Component Annotations 2023 dataset.

periciliary membrane compartment Gene Set

From GO Cellular Component Annotations 2023

proteins localized to the periciliary membrane compartment cellular component from the curated GO Cellular Component Annotations 2023 dataset.

insulin-responsive compartment Gene Set

From GO Cellular Component Annotations 2023

proteins localized to the insulin-responsive compartment cellular component from the curated GO Cellular Component Annotations 2023 dataset.

abnormal epidermal immune compartment Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the abnormal epidermal immune compartment phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

abnormal epidermal immune compartment Gene Set

From IMPC Knockout Mouse Phenotypes

gene knockouts causing the abnormal epidermal immune compartment phenotype in mic from the IMPC Knockout Mouse Phenotypes dataset.

ER Quality Control Compartment (ERQC) Gene Set

From Reactome Pathways 2024

proteins participating in the ER Quality Control Compartment (ERQC) pathway from the Reactome Pathways 2024 dataset.

anterior compartment pattern formation Gene Set

From GO Biological Process Annotations 2025

genes participating in the anterior compartment pattern formation biological process from the curated GO Biological Process Annotations 2025 dataset.

posterior compartment specification Gene Set

From GO Biological Process Annotations 2025

genes participating in the posterior compartment specification biological process from the curated GO Biological Process Annotations 2025 dataset.

endoplasmic reticulum-Golgi intermediate compartment organization Gene Set

From GO Biological Process Annotations 2025

genes participating in the endoplasmic reticulum-Golgi intermediate compartment organization biological process from the curated GO Biological Process Annotations 2025 dataset.

vesicle targeting, trans-Golgi to periciliary membrane compartment Gene Set

From GO Biological Process Annotations 2025

genes participating in the vesicle targeting, trans-Golgi to periciliary membrane compartment biological process from the curated GO Biological Process Annotations 2025 dataset.

protein localization to ciliary inversin compartment Gene Set

From GO Biological Process Annotations 2025

genes participating in the protein localization to ciliary inversin compartment biological process from the curated GO Biological Process Annotations 2025 dataset.

compartment pattern specification Gene Set

From GO Biological Process Annotations 2025

genes participating in the compartment pattern specification biological process from the curated GO Biological Process Annotations 2025 dataset.

endoplasmic reticulum-Golgi intermediate compartment membrane Gene Set

From GO Cellular Component Annotations 2025

proteins localized to the endoplasmic reticulum-Golgi intermediate compartment membrane cellular component from the curated GO Cellular Component Annotations 2025 dataset.

periciliary membrane compartment Gene Set

From GO Cellular Component Annotations 2025

proteins localized to the periciliary membrane compartment cellular component from the curated GO Cellular Component Annotations 2025 dataset.

insulin-responsive compartment Gene Set

From GO Cellular Component Annotations 2025

proteins localized to the insulin-responsive compartment cellular component from the curated GO Cellular Component Annotations 2025 dataset.

Endoplasmic reticulum-Golgi intermediate compartment Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores 2025

proteins localized to the Endoplasmic reticulum-Golgi intermediate compartment cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.

Somatodendritic compartment Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores 2025

proteins localized to the Somatodendritic compartment cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.

Endoplasmic reticulum-Golgi intermediate compartment membrane Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores 2025

proteins localized to the Endoplasmic reticulum-Golgi intermediate compartment membrane cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.

insulin-responsive compartment Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores 2025

proteins localized to the insulin-responsive compartment cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.

Perinucleolar compartment Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores 2025

proteins localized to the Perinucleolar compartment cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.

Endoplasmic reticulum quality control compartment Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores 2025

proteins localized to the Endoplasmic reticulum quality control compartment cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.

Periciliary membrane compartment Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores 2025

proteins localized to the Periciliary membrane compartment cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.

Ciliary inversin compartment Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores 2025

proteins localized to the Ciliary inversin compartment cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.

Somatodendritic compartment Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025

proteins co-occuring with the Somatodendritic compartment cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.

Endoplasmic reticulum-Golgi intermediate compartment Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025

proteins co-occuring with the Endoplasmic reticulum-Golgi intermediate compartment cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.

insulin-responsive compartment Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025

proteins co-occuring with the insulin-responsive compartment cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.

Ciliary inversin compartment Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025

proteins co-occuring with the Ciliary inversin compartment cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.

Endoplasmic reticulum quality control compartment Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025

proteins co-occuring with the Endoplasmic reticulum quality control compartment cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.

Perinucleolar compartment Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025

proteins co-occuring with the Perinucleolar compartment cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.

Periciliary membrane compartment Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025

proteins co-occuring with the Periciliary membrane compartment cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.

Endoplasmic reticulum-Golgi intermediate compartment membrane Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025

proteins co-occuring with the Endoplasmic reticulum-Golgi intermediate compartment membrane cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.

digeorge syndrome; pharyngeal pouch; syndrome; velo-cardio-facial syndrome; 22q11 deletion syndrome Gene Set

From 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.

Hyperimmunoglobulin D with periodic fever Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hyperimmunoglobulin D with periodic fever phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Periodic fever, menstrual cycle-dependent Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Periodic fever, menstrual cycle-dependent phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Sideroblastic anemia with b-cell immunodeficiency, periodic fevers, and developmental delay Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Sideroblastic anemia with b-cell immunodeficiency, periodic fevers, and developmental delay phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cryopyrin-Associated Periodic Syndromes Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Cryopyrin-Associated Periodic Syndromes from the curated CTD Gene-Disease Associations dataset.

Periodic fever, familial, autosomal dominant Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Periodic fever, familial, autosomal dominant from the curated CTD Gene-Disease Associations dataset.

periodic limb movement disorder Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

genes co-occuring with the disease periodic limb movement disorder in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

cryopyrin-associated periodic syndromes; familial mediterranean fever; mevalonate kinase deficiency Gene Set

From GAD Gene-Disease Associations

genes associated with the disease cryopyrin-associated periodic syndromes; familial mediterranean fever; mevalonate kinase deficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

periodic Gene Set

From GeneRIF Biological Term Annotations

genes co-occuring with the biological term periodic in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.

periodic hypokalemic paresis Gene Set

From HPO Gene-Disease Associations

genes associated with the periodic hypokalemic paresis phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Paralyses, Familial Periodic Gene Set

From HuGE Navigator Gene-Phenotype Associations

genes associated with the Paralyses, Familial Periodic phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

Cryopyrin-associated Periodic Syndromes Gene Set

From HuGE Navigator Gene-Phenotype Associations

genes associated with the Cryopyrin-associated Periodic Syndromes phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

Periodic tryptophan protein 2 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Periodic tryptophan protein 2 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

periodic fever, menstrual cycle dependent Gene Set

From OMIM Gene-Disease Associations

genes associated with the periodic fever, menstrual cycle dependent phenotype from the curated OMIM Gene-Disease Associations dataset.

nystagmus, infantile periodic alternating, x-linked Gene Set

From OMIM Gene-Disease Associations

genes associated with the nystagmus, infantile periodic alternating, x-linked phenotype from the curated OMIM Gene-Disease Associations dataset.

periodic fever, familial Gene Set

From OMIM Gene-Disease Associations

genes associated with the periodic fever, familial phenotype from the curated OMIM Gene-Disease Associations dataset.

sideroblastic anemia with b-cell immunodeficiency, periodic fevers, and developmental delay Gene Set

From OMIM Gene-Disease Associations

genes associated with the sideroblastic anemia with b-cell immunodeficiency, periodic fevers, and developmental delay phenotype from the curated OMIM Gene-Disease Associations dataset.

Periodic Fever Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Periodic Fever in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Cryopyrin-Associated Periodic Syndromes Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Cryopyrin-Associated Periodic Syndromes in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Hypersomnia With Periodic Respiration Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Hypersomnia With Periodic Respiration in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Periodic Hypokalemic Paresis Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Periodic Hypokalemic Paresis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Periodic Alternating Nystagmus Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Periodic Alternating Nystagmus in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Eeg With Periodic Lateralized Epileptiform Discharges Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Eeg With Periodic Lateralized Epileptiform Discharges in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Autosomal dominant familial periodic fever Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores 2025

genes involed in the disease Autosomal dominant familial periodic fever from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.

Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores 2025

genes involed in the disease Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.

Autosomal dominant familial periodic fever Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Autosomal dominant familial periodic fever in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Periodic limb movement disorder Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Periodic limb movement disorder in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Familial Periodic Fever Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Familial Periodic Fever phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Infantile-onset ascending hereditary spastic paralysis Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Infantile-onset ascending hereditary spastic paralysis phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hereditary spastic paralysis, infantile onset ascending Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Hereditary spastic paralysis, infantile onset ascending from the curated CTD Gene-Disease Associations dataset.

Facial Paralysis Gene Set

From CTD Gene-Disease Associations

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

Laryngeal Adductor Paralysis Gene Set

From CTD Gene-Disease Associations

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

Paralysis Gene Set

From CTD Gene-Disease Associations

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

Respiratory Paralysis Gene Set

From CTD Gene-Disease Associations

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

Vocal Cord Paralysis Gene Set

From CTD Gene-Disease Associations

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

peroneal nerve paralysis Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

genes co-occuring with the disease peroneal nerve paralysis in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

facial paralysis Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

genes co-occuring with the disease facial paralysis in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

oculomotor nerve paralysis Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

genes co-occuring with the disease oculomotor nerve paralysis in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

tick paralysis Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

genes co-occuring with the disease tick paralysis in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

spastic paralysis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease spastic paralysis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

paralysis; sensation disorders; spinal cord injuries Gene Set

From GAD Gene-Disease Associations

genes associated with the disease paralysis; sensation disorders; spinal cord injuries in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

infantile-onset ascending hereditary spastic paralysis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease infantile-onset ascending hereditary spastic paralysis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

paralysis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease paralysis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

paralysis Gene Set

From GeneRIF Biological Term Annotations

genes co-occuring with the biological term paralysis in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.

vocal cord paralysis (caused by tumor impingement) Gene Set

From HPO Gene-Disease Associations

genes associated with the vocal cord paralysis (caused by tumor impingement) phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

pseudobulbar paralysis Gene Set

From HPO Gene-Disease Associations

genes associated with the pseudobulbar paralysis phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

cranial nerve paralysis Gene Set

From HPO Gene-Disease Associations

genes associated with the cranial nerve paralysis phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

facial paralysis Gene Set

From HPO Gene-Disease Associations

genes associated with the facial paralysis phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

diaphragmatic paralysis Gene Set

From HPO Gene-Disease Associations

genes associated with the diaphragmatic paralysis phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

vocal cord paralysis Gene Set

From HPO Gene-Disease Associations

genes associated with the vocal cord paralysis phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

respiratory paralysis Gene Set

From HPO Gene-Disease Associations

genes associated with the respiratory paralysis phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

paralysis Gene Set

From HPO Gene-Disease Associations

genes associated with the paralysis phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Facial Paralysis Gene Set

From HuGE Navigator Gene-Phenotype Associations

genes associated with the Facial Paralysis phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

Respiratory Paralysis Gene Set

From HuGE Navigator Gene-Phenotype Associations

genes associated with the Respiratory Paralysis phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

forelimb paralysis Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the forelimb paralysis phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

hindlimb paralysis Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the hindlimb paralysis phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

paralysis Gene Set

From MPO Gene-Phenotype Associations

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

?laryngeal adductor paralysis Gene Set

From OMIM Gene-Disease Associations

genes associated with the ?laryngeal adductor paralysis phenotype from the curated OMIM Gene-Disease Associations dataset.

spastic paralysis, infantile onset ascending Gene Set

From OMIM Gene-Disease Associations

genes associated with the spastic paralysis, infantile onset ascending phenotype from the curated OMIM Gene-Disease Associations dataset.

Paralysis Radial Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Paralysis Radial in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Facial Paralysis Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Facial Paralysis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Oculomotor Nerve Paralysis Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Oculomotor Nerve Paralysis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Hereditary Spastic Paralysis, Infantile Onset Ascending Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Hereditary Spastic Paralysis, Infantile Onset Ascending in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

General Paralysis Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease General Paralysis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Vocal Cord Paralysis Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Vocal Cord Paralysis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Thyrotoxic Perioidic Paralysis Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Thyrotoxic Perioidic Paralysis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Sleep Paralysis Gene Set

From DisGeNET Gene-Disease Associations

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

Recurrent Laryngeal Nerve Paralysis Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Recurrent Laryngeal Nerve Paralysis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Partial Paralysis (Paresis) Vocal Cords Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Partial Paralysis (Paresis) Vocal Cords in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Bilateral Vocal Cord Paralysis Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Bilateral Vocal Cord Paralysis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Supranuclear Paralysis Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Supranuclear Paralysis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Nerve Paralysis Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Nerve Paralysis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Infantile Paralysis Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Infantile Paralysis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Laryngeal Paralysis Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Laryngeal Paralysis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Respiratory Paralysis Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Respiratory Paralysis in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Todd Paralysis Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Todd Paralysis in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Acute Flaccid Paralysis Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Acute Flaccid Paralysis in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Flaccid Paralysis Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Flaccid Paralysis in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Paralysis Of Diaphragm Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Paralysis Of Diaphragm in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Paralysis, Spinal, Quadriplegic Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Paralysis, Spinal, Quadriplegic in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Paralysis, Unilateral, Vocal Cord Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Paralysis, Unilateral, Vocal Cord in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Hemifacial Paralysis Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Hemifacial Paralysis in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Skeletal Muscle Paralysis Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Skeletal Muscle Paralysis in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

hindlimb paralysis Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the hindlimb paralysis phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

paralysis Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the paralysis phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

forelimb paralysis Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the forelimb paralysis phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

facial paralysis Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the facial paralysis phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

limb paralysis Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the limb paralysis phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

Facial paralysis Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Facial paralysis in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Tick paralysis Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Tick paralysis in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Peroneal nerve paralysis Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Peroneal nerve paralysis in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Oculomotor nerve paralysis Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Oculomotor nerve paralysis in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Infantile-onset ascending hereditary spastic paralysis Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Infantile-onset ascending hereditary spastic paralysis phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

transient Purkinje cell clusters Gene Set

From Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles

genes with high or low expression in transient Purkinje cell clusters relative to other tissues from the Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles dataset.

Transient neonatal diabetes mellitus 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Transient neonatal diabetes mellitus 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cyanosis, transient neonatal Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cyanosis, transient neonatal phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Transient bullous dermolysis of the newborn Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Transient bullous dermolysis of the newborn phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

LIVER FAILURE, INFANTILE, TRANSIENT Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease LIVER FAILURE, INFANTILE, TRANSIENT from the curated CTD Gene-Disease Associations dataset.

Ischemic Attack, Transient Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Ischemic Attack, Transient from the curated CTD Gene-Disease Associations dataset.

Diabetes Mellitus, Transient Neonatal, 3 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Diabetes Mellitus, Transient Neonatal, 3 from the curated CTD Gene-Disease Associations dataset.

Diabetes Mellitus, Transient Neonatal, 1 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Diabetes Mellitus, Transient Neonatal, 1 from the curated CTD Gene-Disease Associations dataset.

Diabetes Mellitus, Transient Neonatal, 2 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Diabetes Mellitus, Transient Neonatal, 2 from the curated CTD Gene-Disease Associations dataset.

Hyperbilirubinemia, Transient Familial Neonatal Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Hyperbilirubinemia, Transient Familial Neonatal from the curated CTD Gene-Disease Associations dataset.

Transient bullous dermolysis of the newborn Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Transient bullous dermolysis of the newborn from the curated CTD Gene-Disease Associations dataset.

Amnesia, Transient Global Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Amnesia, Transient Global from the curated CTD Gene-Disease Associations dataset.

transient hypogammaglobulinemia of infancy Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

genes co-occuring with the disease transient hypogammaglobulinemia of infancy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

transient arthritis Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

genes co-occuring with the disease transient arthritis in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

transient hypogammaglobulinemia Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

genes co-occuring with the disease transient hypogammaglobulinemia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

transient cerebral ischemia Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

genes co-occuring with the disease transient cerebral ischemia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

transient neonatal neutropenia Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

genes co-occuring with the disease transient neonatal neutropenia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

transient neonatal thrombocytopenia Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

genes co-occuring with the disease transient neonatal thrombocytopenia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

transient global amnesia Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

genes co-occuring with the disease transient global amnesia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

transient refractive change Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

genes co-occuring with the disease transient refractive change in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

brain ischemia; intracranial thrombosis; ischemic attack, transient; migraine disorders; stroke Gene Set

From GAD Gene-Disease Associations

genes associated with the disease brain ischemia; intracranial thrombosis; ischemic attack, transient; migraine disorders; stroke in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

amnesia, transient global Gene Set

From GAD Gene-Disease Associations

genes associated with the disease amnesia, transient global in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

angina pectoris; ischemic attack, transient; lupus erythematosus, systemic; myocardial infarction; peripheral vascular diseases; stroke; vasculitis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease angina pectoris; ischemic attack, transient; lupus erythematosus, systemic; myocardial infarction; peripheral vascular diseases; stroke; vasculitis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

brain ischemia; ischemic attack, transient; stroke Gene Set

From GAD Gene-Disease Associations

genes associated with the disease brain ischemia; ischemic attack, transient; stroke in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

intracranial arteriosclerosis; ischemic attack, transient; myocardial infarction; recurrence; stroke Gene Set

From GAD Gene-Disease Associations

genes associated with the disease intracranial arteriosclerosis; ischemic attack, transient; myocardial infarction; recurrence; stroke in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

transient myeloproliferative disorder Gene Set

From GAD Gene-Disease Associations

genes associated with the disease transient myeloproliferative disorder in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

transient Gene Set

From GeneRIF Biological Term Annotations

genes co-occuring with the biological term transient in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.

a-type (transient outward) potassium channel activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the a-type (transient outward) potassium channel activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

transient hypophosphatemia Gene Set

From HPO Gene-Disease Associations

genes associated with the transient hypophosphatemia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

transient aminoaciduria Gene Set

From HPO Gene-Disease Associations

genes associated with the transient aminoaciduria phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

transient ischemic attack Gene Set

From HPO Gene-Disease Associations

genes associated with the transient ischemic attack phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

transient hyperlipidemia Gene Set

From HPO Gene-Disease Associations

genes associated with the transient hyperlipidemia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

transient neonatal diabetes mellitus Gene Set

From HPO Gene-Disease Associations

genes associated with the transient neonatal diabetes mellitus phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

transient hyperphenylalaninemia Gene Set

From HPO Gene-Disease Associations

genes associated with the transient hyperphenylalaninemia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Ischemic Attack, Transient Gene Set

From HuGE Navigator Gene-Phenotype Associations

genes associated with the Ischemic Attack, Transient phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

Amnesia, Transient Global Gene Set

From HuGE Navigator Gene-Phenotype Associations

genes associated with the Amnesia, Transient Global phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

Transient receptor potential cation channel subfamily V member 5/6 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Transient receptor potential cation channel subfamily V member 5/6 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Transient receptor potential channel, vanilloid 1-4 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Transient receptor potential channel, vanilloid 1-4 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Transient receptor ion channel domain Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Transient receptor ion channel domain protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Transient receptor potential ankyrin 1 channel Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Transient receptor potential ankyrin 1 channel protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Transient receptor potential channel, canonical 1 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Transient receptor potential channel, canonical 1 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Transient receptor potential channel, canonical 4 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Transient receptor potential channel, canonical 4 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Transient receptor potential channel, canonical 5 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Transient receptor potential channel, canonical 5 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Transient receptor potential channel, canonical 6 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Transient receptor potential channel, canonical 6 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Transient receptor potential channel, canonical 7 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Transient receptor potential channel, canonical 7 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Transient receptor potential channel Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Transient receptor potential channel protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Transient receptor potential channel, vanilloid 6 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Transient receptor potential channel, vanilloid 6 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Transient receptor potential channel, canonical 3 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Transient receptor potential channel, canonical 3 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Transient receptor potential cation channel subfamily M member 2 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Transient receptor potential cation channel subfamily M member 2 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Transient receptor potential cation channel subfamily M member 3 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Transient receptor potential cation channel subfamily M member 3 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Transient receptor potential cation channel subfamily M member 1 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Transient receptor potential cation channel subfamily M member 1 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Transient receptor potential cation channel subfamily M member 6 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Transient receptor potential cation channel subfamily M member 6 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Transient receptor potential cation channel subfamily M member 7 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Transient receptor potential cation channel subfamily M member 7 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Transient receptor potential cation channel subfamily M member 4 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Transient receptor potential cation channel subfamily M member 4 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Transient receptor potential cation channel subfamily M member 5 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Transient receptor potential cation channel subfamily M member 5 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Transient receptor potential cation channel subfamily M member 8 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Transient receptor potential cation channel subfamily M member 8 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Transient receptor potential cation channel subfamily V member 5 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Transient receptor potential cation channel subfamily V member 5 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Transient receptor potential channel, vanilloid 4 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Transient receptor potential channel, vanilloid 4 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Transient receptor potential channel, vanilloid 2 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Transient receptor potential channel, vanilloid 2 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Transient receptor potential channel, vanilloid 3 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Transient receptor potential channel, vanilloid 3 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Transient receptor potential channel, vanilloid 1 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Transient receptor potential channel, vanilloid 1 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Transient receptor potential channel, canonical Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Transient receptor potential channel, canonical protein domain from the InterPro Predicted Protein Domain Annotations dataset.

diabetes mellitus, transient neonatal 2 Gene Set

From OMIM Gene-Disease Associations

genes associated with the diabetes mellitus, transient neonatal 2 phenotype from the curated OMIM Gene-Disease Associations dataset.

hypertriglyceridemia, transient infantile Gene Set

From OMIM Gene-Disease Associations

genes associated with the hypertriglyceridemia, transient infantile phenotype from the curated OMIM Gene-Disease Associations dataset.

transient erythroblastopenia of childhood Gene Set

From OMIM Gene-Disease Associations

genes associated with the transient erythroblastopenia of childhood phenotype from the curated OMIM Gene-Disease Associations dataset.

liver failure, transient infantile Gene Set

From OMIM Gene-Disease Associations

genes associated with the liver failure, transient infantile phenotype from the curated OMIM Gene-Disease Associations dataset.

transient bullous of the newborn Gene Set

From OMIM Gene-Disease Associations

genes associated with the transient bullous of the newborn phenotype from the curated OMIM Gene-Disease Associations dataset.

hyperbilirubinemia, familial transient neonatal Gene Set

From OMIM Gene-Disease Associations

genes associated with the hyperbilirubinemia, familial transient neonatal phenotype from the curated OMIM Gene-Disease Associations dataset.

myasthenia gravis, neonatal transient Gene Set

From OMIM Gene-Disease Associations

genes associated with the myasthenia gravis, neonatal transient phenotype from the curated OMIM Gene-Disease Associations dataset.

{diabetes mellitus, transient neonatal} Gene Set

From OMIM Gene-Disease Associations

genes associated with the {diabetes mellitus, transient neonatal} phenotype from the curated OMIM Gene-Disease Associations dataset.

diabetes mellitus, transient neonatal, 3 Gene Set

From OMIM Gene-Disease Associations

genes associated with the diabetes mellitus, transient neonatal, 3 phenotype from the curated OMIM Gene-Disease Associations dataset.

diabetes mellitus, transient neonatal, 1 Gene Set

From OMIM Gene-Disease Associations

genes associated with the diabetes mellitus, transient neonatal, 1 phenotype from the curated OMIM Gene-Disease Associations dataset.

zinc deficiency, transient neonatal Gene Set

From OMIM Gene-Disease Associations

genes associated with the zinc deficiency, transient neonatal phenotype from the curated OMIM Gene-Disease Associations dataset.

cyanosis, transient neonatal Gene Set

From OMIM Gene-Disease Associations

genes associated with the cyanosis, transient neonatal phenotype from the curated OMIM Gene-Disease Associations dataset.

Transient Ischemic Attack Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Transient Ischemic Attack in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Transient Neonatal Diabetes Mellitus Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Transient Neonatal Diabetes Mellitus in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Transient Cerebral Ischemia Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Transient Cerebral Ischemia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Transient Ischemia Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Transient Ischemia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Brain Stem Ischemia, Transient Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Brain Stem Ischemia, Transient in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Carotid Circulation Transient Ischemic Attack Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Carotid Circulation Transient Ischemic Attack in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Crescendo Transient Ischemic Attacks Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Crescendo Transient Ischemic Attacks in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Posterior Circulation Transient Ischemic Attack Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Posterior Circulation Transient Ischemic Attack in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Transient Ischemic Attack, Anterior Circulation Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Transient Ischemic Attack, Anterior Circulation in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Transient Ischemic Attack, Vertebrobasilar Circulation Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Transient Ischemic Attack, Vertebrobasilar Circulation in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Acute Transient Psychotic Disorder Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Acute Transient Psychotic Disorder in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Transient Myocardial Ischemia Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Transient Myocardial Ischemia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Transient Neonatal Renal Tubular Acidosis Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Transient Neonatal Renal Tubular Acidosis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Transient Hemiparesis Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Transient Hemiparesis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Transient Hypogammaglobulinemia Of Infancy Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Transient Hypogammaglobulinemia Of Infancy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Transient Bullous Dermolysis Of The Newborn Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Transient Bullous Dermolysis Of The Newborn in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Transient Erythroblastopenia Of Childhood Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Transient Erythroblastopenia Of Childhood in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Transient Psychosis Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Transient Psychosis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Transient Tic Disorder Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Transient Tic Disorder in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Genetic Transient Congenital Hypothyroidism Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Genetic Transient Congenital Hypothyroidism in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Transient Hypothyroidism Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Transient Hypothyroidism in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Transient Hypothyroxinaemia Of Prematurity Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Transient Hypothyroxinaemia Of Prematurity in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Transient Hyperphenylalaninemia Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Transient Hyperphenylalaninemia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Transient Hypoparathyroidism Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Transient Hypoparathyroidism in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Transient Neonatal Hypothyroidism Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Transient Neonatal Hypothyroidism in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Cyanosis, Transient Neonatal Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Cyanosis, Transient Neonatal in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Transient Situational Disturbance Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Transient Situational Disturbance in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

6Q24-Related Transient Neonatal Diabetes Mellitus Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease 6Q24-Related Transient Neonatal Diabetes Mellitus in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Transient Hypothyroxinemia Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Transient Hypothyroxinemia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Liver Failure, Infantile, Transient Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Liver Failure, Infantile, Transient in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Transient Insomnia Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Transient Insomnia in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Transient Aminoaciduria Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Transient Aminoaciduria in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Transient Neurological Symptoms Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Transient Neurological Symptoms in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Transient Unilateral Blurring Of Vision Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Transient Unilateral Blurring Of Vision in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Transient Hypophosphatemia Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Transient Hypophosphatemia in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Transient Hyperlipidemia Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Transient Hyperlipidemia in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Transient Hypertension Of Pregnancy Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Transient Hypertension Of Pregnancy in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Transient Edema Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Transient Edema in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Transient Osteoporosis Of Hip Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Transient Osteoporosis Of Hip in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Tic, Transient Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Tic, Transient in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Transient Neonatal Hyperparathyroidism Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Transient Neonatal Hyperparathyroidism in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

A-type (transient outward) potassium channel activity Gene Set

From GO Molecular Function Annotations 2023

genes performing the A-type (transient outward) potassium channel activity molecular function from the curated GO Molecular Function Annotations 2023 dataset.

abnormal cochlear hair bundle transient lateral links morphology Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the abnormal cochlear hair bundle transient lateral links morphology phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

Transient-amplifying(TA) cell_Epithelium_Human Gene Set

From CellMarker Gene-Cell Type Associations

genes associated with the Transient-amplifying(TA) cell_Epithelium_Human cell type from the CellMarker Gene-Cell Type Associations dataset.

Transient-amplifying(TA) cell_Ileum_Human Gene Set

From CellMarker Gene-Cell Type Associations

genes associated with the Transient-amplifying(TA) cell_Ileum_Human cell type from the CellMarker Gene-Cell Type Associations dataset.

Cycling transient-amplifying cell_Ileum_Human Gene Set

From CellMarker Gene-Cell Type Associations

genes associated with the Cycling transient-amplifying cell_Ileum_Human cell type from the CellMarker Gene-Cell Type Associations dataset.

Secretory transient-amplifying cell_Ileum_Human Gene Set

From CellMarker Gene-Cell Type Associations

genes associated with the Secretory transient-amplifying cell_Ileum_Human cell type from the CellMarker Gene-Cell Type Associations dataset.

Collecting duct transient cell_Kidney_Mouse Gene Set

From CellMarker Gene-Cell Type Associations

genes associated with the Collecting duct transient cell_Kidney_Mouse cell type from the CellMarker Gene-Cell Type Associations dataset.

Damage-associated transient progenitor cell_Lung_Mouse Gene Set

From CellMarker Gene-Cell Type Associations

genes associated with the Damage-associated transient progenitor cell_Lung_Mouse cell type from the CellMarker Gene-Cell Type Associations dataset.

Damage-associated transient progenitor cell_Alveolus_Mouse Gene Set

From CellMarker Gene-Cell Type Associations

genes associated with the Damage-associated transient progenitor cell_Alveolus_Mouse cell type from the CellMarker Gene-Cell Type Associations dataset.

Damage-associated transient progenitor cell_Undefined_Human Gene Set

From CellMarker Gene-Cell Type Associations

genes associated with the Damage-associated transient progenitor cell_Undefined_Human cell type from the CellMarker Gene-Cell Type Associations dataset.

A-type (transient outward) potassium channel activity Gene Set

From GO Molecular Function Annotations 2025

genes performing the A-type (transient outward) potassium channel activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.

Transient neonatal diabetes mellitus Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Transient neonatal diabetes mellitus in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Transient cerebral ischemia Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Transient cerebral ischemia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Transient arthritis Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Transient arthritis in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Transient hypogammaglobulinemia Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Transient hypogammaglobulinemia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Transient hypogammaglobulinemia of infancy Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Transient hypogammaglobulinemia of infancy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Transient tic disorder Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Transient tic disorder in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Transient refractive change Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Transient refractive change in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Transient bullous dermolysis of the newborn Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Transient bullous dermolysis of the newborn in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Transient infantile liver failure Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Transient infantile liver failure in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Transient global amnesia Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Transient global amnesia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Transient neonatal thrombocytopenia Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Transient neonatal thrombocytopenia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Transient neonatal neutropenia Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Transient neonatal neutropenia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Transient retinal arterial occlusion Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Transient retinal arterial occlusion in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Genetic transient congenital hypothyroidism Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Genetic transient congenital hypothyroidism phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Transient Neonatal Diabetes Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Transient Neonatal Diabetes phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

TRANSIENT MYELOPROLIFERATIVE DISORDER OF DOWN SYNDR Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the TRANSIENT MYELOPROLIFERATIVE DISORDER OF DOWN SYNDR phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Transient bullous dermolysis of the newborn Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Transient bullous dermolysis of the newborn phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Transient ischemic attack Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Transient ischemic attack phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Transient infantile hypertriglyceridemia and hepatosteatosis Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Transient infantile hypertriglyceridemia and hepatosteatosis phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Lynch syndrome:Lynch syndrome:Lynch syndrome Gene Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From GAD Gene-Disease Associations

genes associated with the disease adult respiratory distress syndrome; respiratory distress syndrome, adult; severe acute respiratory syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

insulin resistance; metabolic syndrome x; polycystic ovarian syndrome; polycystic ovary syndrome Gene Set

From 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.

Lynch syndrome:Turcot syndrome Gene Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From Biocarta Pathways

proteins participating in the visceral fat deposits and the metabolic syndrome pathway from the Biocarta Pathways dataset.

Branchiootic syndrome 3 Gene Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From ClinVar Gene-Phenotype Associations

genes associated with the Char syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Fragile X syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Fragile X syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Shwachman syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Shwachman syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Greig cephalopolysyndactyly syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Greig cephalopolysyndactyly syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Melnick-Fraser syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Melnick-Fraser syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Marfan's syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Marfan's syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Melnick-Needles syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Melnick-Needles syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Branchiootorenal syndrome 2 Gene Set

From 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 Set

From 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 Set

From 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 Set

From ClinVar Gene-Phenotype Associations

genes associated with the Lesch-Nyhan syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Oculofaciocardiodental syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Oculofaciocardiodental syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Robinow Sorauf syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Robinow Sorauf syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

17q2131 microdeletion syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the 17q2131 microdeletion syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Desbuquois syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Desbuquois syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Macrocephaly/autism syndrome Gene Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From ClinVar Gene-Phenotype Associations

genes associated with the Osteopenic nonfracture syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Barakat syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Barakat syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Raine syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Raine syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Digitorenocerebral syndrome Gene Set

From 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 Set

From 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 Set

From 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 Set

From ClinVar Gene-Phenotype Associations

genes associated with the Alport syndrome, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Alstrom syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Alstrom syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hyperinsulinism-hyperammonemia syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hyperinsulinism-hyperammonemia syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Lynch syndrome II Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Lynch syndrome II phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Joubert syndrome 17 Gene Set

From 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 Set

From ClinVar Gene-Phenotype Associations

genes associated with the Lethal multiple pterygium syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

MORM syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the MORM syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Upshaw-Schulman syndrome Gene Set

From 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 Set

From 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 Set

From 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 Set

From ClinVar Gene-Phenotype Associations

genes associated with the Usher syndrome, type 1F phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Martsolf syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Martsolf syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Usher syndrome, type 1D Gene Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hurler syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Angelman syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Angelman syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Lig4 syndrome Gene Set

From 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 Set

From 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 Set

From 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 Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hajdu-Cheney syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hyperferritinemia cataract syndrome Gene Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From ClinVar Gene-Phenotype Associations

genes associated with the Chudley-McCullough syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Poretti-boltshauser syndrome Gene Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From ClinVar Gene-Phenotype Associations

genes associated with the Young Simpson syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Frasier syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Frasier syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 Gene Set

From 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 Set

From 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 Set

From 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 Set

From ClinVar Gene-Phenotype Associations

genes associated with the Pili torti-deafness syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Gorlin syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Gorlin syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Marshall syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Marshall syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Usher syndrome, type 2C Gene Set

From 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 Set

From ClinVar Gene-Phenotype Associations

genes associated with the Usher syndrome, type 2D phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Carpenter syndrome Gene Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From ClinVar Gene-Phenotype Associations

genes associated with the Bardet-Biedl syndrome 14 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Waardenburg syndrome type 2A Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Waardenburg syndrome type 2A phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Steel syndrome Gene Set

From 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 Set

From 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 Set

From ClinVar Gene-Phenotype Associations

genes associated with the Roberts-SC phocomelia syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Bloom syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Bloom syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

McLeod neuroacanthocytosis syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the McLeod neuroacanthocytosis syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cerebrooculofacioskeletal syndrome 4 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cerebrooculofacioskeletal syndrome 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cerebrooculofacioskeletal syndrome 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cerebrooculofacioskeletal syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Nicolaides-Baraitser syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Nicolaides-Baraitser syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Nager syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Nager syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Chédiak-Higashi syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Chédiak-Higashi syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Kindler's syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Kindler's syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Carnevale syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Carnevale syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Kenny syndrome Gene Set

From 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 Set

From 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 Set

From ClinVar Gene-Phenotype Associations

genes associated with the Rienhoff syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Usher syndrome, type 2A Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Usher syndrome, type 2A phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Weaver syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Weaver syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Lynch syndrome I Gene Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hypotrichosis-lymphedema-telangiectasia syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

LEOPARD syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the LEOPARD syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hermansky-Pudlak syndrome 9 Gene Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hyper-IgE syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Tourette Syndrome Gene Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From ClinVar Gene-Phenotype Associations

genes associated with the Gamstorp-Wohlfart syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Turcot syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Turcot syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Joubert syndrome 3 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Joubert syndrome 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Joubert syndrome 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Joubert syndrome 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Joubert syndrome 7 Gene Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Netherton syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Netherton syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Bartter syndrome, type 4b Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Bartter syndrome, type 4b phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Feingold syndrome Gene Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From ClinVar Gene-Phenotype Associations

genes associated with the Richieri Costa Pereira syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Autoimmune lymphoproliferative syndrome, type 2 Gene Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From ClinVar Gene-Phenotype Associations

genes associated with the Costello syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Ochoa syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Ochoa syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Bruck syndrome 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Bruck syndrome 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Bruck syndrome 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Bruck syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Achalasia-alacrima syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Achalasia-alacrima syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cryptophthalmos syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cryptophthalmos syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Brugada syndrome 6 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Brugada syndrome 6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Brugada syndrome 5 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Brugada syndrome 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Brugada syndrome 4 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Brugada syndrome 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Brugada syndrome 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Brugada syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Brugada syndrome 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Brugada syndrome 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Ovarian hyperstimulation syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Ovarian hyperstimulation syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Otofaciocervical syndrome 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Otofaciocervical syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Kaufman oculocerebrofacial syndrome Gene Set

From 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 Set

From 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 Set

From 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 Set

From ClinVar Gene-Phenotype Associations

genes associated with the Stickler syndrome, type 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Branchiooculofacial syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Branchiooculofacial syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Karak syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Karak syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Long QT syndrome 12 Gene Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From ClinVar Gene-Phenotype Associations

genes associated with the Jankovic Rivera syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Nakajo syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Nakajo syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Chromosome Xq28 deletion syndrome Gene Set

From 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 Set

From ClinVar Gene-Phenotype Associations

genes associated with the Fanconi-Bickel syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

short QT syndrome Gene Set

From 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 Set

From 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 Set

From 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 Set

From ClinVar Gene-Phenotype Associations

genes associated with the Joubert syndrome 10 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Joubert syndrome 13 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Joubert syndrome 13 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Joubert syndrome 14 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Joubert syndrome 14 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Joubert syndrome 16 Gene Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From ClinVar Gene-Phenotype Associations

genes associated with the Leprechaunism syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Simpson-Golabi-Behmel syndrome Gene Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Dysequilibrium syndrome Gene Set

From 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 Set

From 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 Set

From 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 Set

From ClinVar Gene-Phenotype Associations

genes associated with the Johanson-Blizzard syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

GRACILE syndrome Gene Set

From 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 Set

From 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 Set

From 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 Set

From ClinVar Gene-Phenotype Associations

genes associated with the Kowarski syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

ADULT syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the ADULT syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Meckel-Gruber syndrome Gene Set

From 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 Set

From 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 Set

From ClinVar Gene-Phenotype Associations

genes associated with the Neutrophil immunodeficiency syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Coffin-Lowry syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Coffin-Lowry syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Auriculocondylar syndrome 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Auriculocondylar syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Auriculocondylar syndrome 3 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Auriculocondylar syndrome 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Auriculocondylar syndrome 1 Gene Set

From 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 Set

From 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 Set

From ClinVar Gene-Phenotype Associations

genes associated with the Pierson syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Pfeiffer syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Pfeiffer syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Loeys-Dietz syndrome 1 Gene Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From ClinVar Gene-Phenotype Associations

genes associated with the Perrault syndrome 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Perrault syndrome 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Perrault syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Jensen syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Jensen syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Werner syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Werner syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Aarskog syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Aarskog syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Enamel-renal syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Enamel-renal syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Joubert syndrome 21 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Joubert syndrome 21 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Joubert syndrome 20 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Joubert syndrome 20 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Joubert syndrome 22 Gene Set

From 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 Set

From 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 Set

From 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 Set

From ClinVar Gene-Phenotype Associations

genes associated with the Keutel syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Pitt-Hopkins syndrome Gene Set

From 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 Set

From 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 Set

From ClinVar Gene-Phenotype Associations

genes associated with the Multiple pterygium syndrome Escobar type phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Lynch syndrome Gene Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From ClinVar Gene-Phenotype Associations

genes associated with the Stiff skin syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Lenz microphthalmia syndrome Gene Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From ClinVar Gene-Phenotype Associations

genes associated with the Grebe syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Saethre-Chotzen syndrome Gene Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From ClinVar Gene-Phenotype Associations

genes associated with the Wieacker syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Kabuki make-up syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Kabuki make-up syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cohen syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cohen syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Oligodontia-colorectal cancer syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Oligodontia-colorectal cancer syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Filippi syndrome Gene Set

From 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 Set

From 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 Set

From ClinVar Gene-Phenotype Associations

genes associated with the Primrose syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Perrault syndrome 4 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Perrault syndrome 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Marshall-Smith syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Marshall-Smith syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Loeys-Dietz syndrome Gene Set

From 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 Set

From ClinVar Gene-Phenotype Associations

genes associated with the Brittle cornea syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Rotor syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Rotor syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Oral-facial-digital syndrome Gene Set

From 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 Set

From 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 Set

From ClinVar Gene-Phenotype Associations

genes associated with the Gray platelet syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mast syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mast syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Amish infantile epilepsy syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Amish infantile epilepsy syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Meacham syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Meacham syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Stormorken syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Stormorken syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Opitz-Frias syndrome Gene Set

From 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 Set

From 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 Set

From 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 Set

From ClinVar Gene-Phenotype Associations

genes associated with the Kallmann syndrome 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Kallmann syndrome 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Kallmann syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Kallmann syndrome 4 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Kallmann syndrome 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Kallmann syndrome 5 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Kallmann syndrome 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Kallmann syndrome 6 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Kallmann syndrome 6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Yunis Varon syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Yunis Varon syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cowden syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cowden syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mulibrey nanism syndrome Gene Set

From 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 Set

From 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 Set

From ClinVar Gene-Phenotype Associations

genes associated with the Nephrotic syndrome, idiopathic, steroid-resistant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

SeSAME syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the SeSAME syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Odontotrichomelic syndrome Gene Set

From 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 Set

From ClinVar Gene-Phenotype Associations

genes associated with the Atrioventricular septal defect, partial, with heterotaxy syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Meckel syndrome, type 6 Gene Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From ClinVar Gene-Phenotype Associations

genes associated with the Van Maldergem syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Robinow syndrome Gene Set

From 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 Set

From 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 Set

From ClinVar Gene-Phenotype Associations

genes associated with the Orofaciodigital syndrome 6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Orofaciodigital syndrome 5 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Orofaciodigital syndrome 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Distichiasis-lymphedema syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Distichiasis-lymphedema syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Townes syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Townes syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Neu-Laxova syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Neu-Laxova syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Winchester syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Winchester syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Unverricht-Lundborg syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Unverricht-Lundborg syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Verheij syndrome Gene Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From ClinVar Gene-Phenotype Associations

genes associated with the Arterial tortuosity syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Juvenile polyposis syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Juvenile polyposis syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Papillon-Lefèvre syndrome Gene Set

From 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 Set

From 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 Set

From 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 Set

From ClinVar Gene-Phenotype Associations

genes associated with the Peters plus syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Ulnar-mammary syndrome Gene Set

From 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 Set

From 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 Set

From ClinVar Gene-Phenotype Associations

genes associated with the Zunich neuroectodermal syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Beckwith-Wiedemann syndrome Gene Set

From 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 Set

From 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 Set

From ClinVar Gene-Phenotype Associations

genes associated with the Sotos' syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Dyggve-Melchior-Clausen syndrome Gene Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From ClinVar Gene-Phenotype Associations

genes associated with the Tatton-Brown-rahman syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

COACH syndrome Gene Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From ClinVar Gene-Phenotype Associations

genes associated with the Sudden infant death syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Dursun syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Dursun syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Carpenter syndrome 2 Gene Set

From 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 Set

From 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 Set

From ClinVar Gene-Phenotype Associations

genes associated with the Haim-Munk syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Knobloch syndrome 1 Gene Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From ClinVar Gene-Phenotype Associations

genes associated with the Serkal syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Marinesco-Sjögren syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Marinesco-Sjögren syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Seckel syndrome 8 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Seckel syndrome 8 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Seckel syndrome 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Seckel syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Seckel syndrome 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Seckel syndrome 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Seckel syndrome 7 Gene Set

From 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 Set

From 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 Set

From ClinVar Gene-Phenotype Associations

genes associated with the Urofacial syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Gordon's syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Gordon's syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Arts syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Arts syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Noonan syndrome 8 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Noonan syndrome 8 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Noonan syndrome 5 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Noonan syndrome 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Noonan syndrome 4 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Noonan syndrome 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Noonan syndrome 7 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Noonan syndrome 7 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Noonan syndrome 6 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Noonan syndrome 6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Noonan syndrome 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Noonan syndrome 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Noonan syndrome 3 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Noonan syndrome 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

McKusick Kaufman syndrome Gene Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From ClinVar Gene-Phenotype Associations

genes associated with the EEM syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cardiofaciocutaneous syndrome 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cardiofaciocutaneous syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

TARP syndrome Gene Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From ClinVar Gene-Phenotype Associations

genes associated with the Caudal regression syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Catel Manzke syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Catel Manzke syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Trichohepatoenteric syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Trichohepatoenteric syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cockayne syndrome type A Gene Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From ClinVar Gene-Phenotype Associations

genes associated with the Popliteal pterygium syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

SHORT syndrome Gene Set

From 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 Set

From 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 Set

From ClinVar Gene-Phenotype Associations

genes associated with the Bainbridge-Ropers syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Orofaciodigital syndrome xiv Gene Set

From 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 Set

From 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 Set

From 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 Set

From ClinVar Gene-Phenotype Associations

genes associated with the Bent bone dysplasia syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Pachydermoperiostosis syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Pachydermoperiostosis syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Bardet-Biedl syndrome Gene Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From ClinVar Gene-Phenotype Associations

genes associated with the Familial multiple polyposis syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Kartagener syndrome Gene Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cockayne syndrome, type B phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Wagner syndrome Gene Set

From 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 Set

From 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 Set

From ClinVar Gene-Phenotype Associations

genes associated with the Joubert syndrome 6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Schinzel-Giedion syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Schinzel-Giedion syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Bowen-Conradi syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Bowen-Conradi syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

ATR-X syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the ATR-X syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Gardner syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Gardner syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Baller-Gerold syndrome Gene Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From ClinVar Gene-Phenotype Associations

genes associated with the Menkes kinky-hair syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Legius syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Legius syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Joubert syndrome 9 Gene Set

From 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 Set

From 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 Set

From ClinVar Gene-Phenotype Associations

genes associated with the Andermann syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Stickler syndrome, type 3 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Stickler syndrome, type 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Michels syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Michels syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.