Name

SDR42E1 Gene

short chain dehydrogenase/reductase family 42E, member 1

Predicted to enable oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor. Predicted to be involved in steroid biosynthetic process. Predicted to be located in membrane. [provided by Alliance of Genome Resources, Mar 2025]

ACSS3 Gene

acyl-CoA synthetase short-chain family member 3

Enables propionate-CoA ligase activity. Predicted to be involved in ketone body biosynthetic process. Located in mitochondrial matrix. [provided by Alliance of Genome Resources, Mar 2025]

ACSS2 Gene

acyl-CoA synthetase short-chain family member 2

This gene encodes a cytosolic enzyme that catalyzes the activation of acetate for use in lipid synthesis and energy generation. The protein acts as a monomer and produces acetyl-CoA from acetate in a reaction that requires ATP. Expression of this gene is regulated by sterol regulatory element-binding proteins, transcription factors that activate genes required for the synthesis of cholesterol and unsaturated fatty acids. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2009]

ACSS1 Gene

acyl-CoA synthetase short-chain family member 1

This gene encodes a mitochondrial acetyl-CoA synthetase enzyme. A similar protein in mice plays an important role in the tricarboxylic acid cycle by catalyzing the conversion of acetate to acetyl CoA. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011]

SDR42E2 Gene

short chain dehydrogenase/reductase family 42E, member 2

Predicted to enable oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor. Predicted to be involved in steroid biosynthetic process. [provided by Alliance of Genome Resources, Mar 2025]

ACADSB Gene

acyl-CoA dehydrogenase, short/branched chain

Short/branched chain acyl-CoA dehydrogenase(ACADSB) is a member of the acyl-CoA dehydrogenase family of enzymes that catalyze the dehydrogenation of acyl-CoA derivatives in the metabolism of fatty acids or branch chained amino acids. Substrate specificity is the primary characteristic used to define members of this gene family. The ACADSB gene product has the greatest activity towards the short branched chain acyl-CoA derivative, (S)-2-methylbutyryl-CoA, but also reacts significantly with other 2-methyl branched chain substrates and with short straight chain acyl-CoAs. The cDNA encodes for a mitochondrial precursor protein which is cleaved upon mitochondrial import and predicted to yield a mature peptide of approximately 43.7-KDa. [provided by RefSeq, Jul 2008]

SHOX2 Gene

short stature homeobox 2

This gene is a member of the homeobox family of genes that encode proteins containing a 60-amino acid residue motif that represents a DNA binding domain. Homeobox genes have been characterized extensively as transcriptional regulators involved in pattern formation in both invertebrate and vertebrate species. Several human genetic disorders are caused by aberrations in human homeobox genes. This locus represents a pseudoautosomal homeobox gene that is thought to be responsible for idiopathic short stature, and it is implicated in the short stature phenotype of Turner syndrome patients. This gene is considered to be a candidate gene for Cornelia de Lange syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2009]

KIR2DS5 Gene

killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 5

Killer cell immunoglobulin-like receptors (KIRs) are transmembrane glycoproteins expressed by natural killer cells and subsets of T cells. The KIR genes are polymorphic and highly homologous and they are found in a cluster on chromosome 19q13.4 within the 1 Mb leukocyte receptor complex (LRC). The gene content of the KIR gene cluster varies among haplotypes, although several `framework` genes are found in all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR proteins are classified by the number of extracellular immunoglobulin domains (2D or 3D) and by whether they have a long (L) or short (S) cytoplasmic domain. KIR proteins with the long cytoplasmic domain transduce inhibitory signals upon ligand binding via an immune tyrosine-based inhibitory motif (ITIM), while KIR proteins with the short cytoplasmic domain lack the ITIM motif and instead associate with the TYRO protein tyrosine kinase binding protein to transduce activating signals. The ligands for several KIR proteins are subsets of HLA class I molecules; thus, KIR proteins are thought to play an important role in regulation of the immune response. [provided by RefSeq, Jul 2008]

KIR2DS2 Gene

killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2

Killer cell immunoglobulin-like receptors (KIRs) are transmembrane glycoproteins expressed by natural killer cells and subsets of T cells. The KIR genes are polymorphic and highly homologous and they are found in a cluster on chromosome 19q13.4 within the 1 Mb leukocyte receptor complex (LRC). The gene content of the KIR gene cluster varies among haplotypes, although several `framework` genes are found in all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR proteins are classified by the number of extracellular immunoglobulin domains (2D or 3D) and by whether they have a long (L) or short (S) cytoplasmic domain. KIR proteins with the long cytoplasmic domain transduce inhibitory signals upon ligand binding via an immune tyrosine-based inhibitory motif (ITIM), while KIR proteins with the short cytoplasmic domain lack the ITIM motif and instead associate with the TYRO protein tyrosine kinase binding protein to transduce activating signals. The ligands for several KIR proteins are subsets of HLA class I molecules; thus, KIR proteins are thought to play an important role in regulation of the immune response. This gene represents a haplotype-specific family member that encodes a protein with a short cytoplasmic tail. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2014]

SCOCP1 Gene

short coiled-coil protein pseudogene 1

SHOX Gene

short stature homeobox

This gene belongs to the paired homeobox family and is located in the pseudoautosomal region 1 (PAR1) of X and Y chromosomes. Defects in this gene are associated with idiopathic growth retardation and in the short stature phenotype of Turner syndrome patients. This gene is highly conserved across species from mammals to fish to flies. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Jul 2008]

LOC100132571 Gene

short coiled-coil protein pseudogene

KIR2DS4 Gene

killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 4

Killer cell immunoglobulin-like receptors (KIRs) are transmembrane glycoproteins expressed by natural killer cells and subsets of T cells. The KIR genes are polymorphic and highly homologous and they are found in a cluster on chromosome 19q13.4 within the 1 Mb leukocyte receptor complex (LRC). The gene content of the KIR gene cluster varies among haplotypes, although several `framework` genes are found in all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR proteins are classified by the number of extracellular immunoglobulin domains (2D or 3D) and by whether they have a long (L) or short (S) cytoplasmic domain. KIR proteins with the long cytoplasmic domain transduce inhibitory signals upon ligand binding via an immune tyrosine-based inhibitory motif (ITIM), while KIR proteins with the short cytoplasmic domain lack the ITIM motif and instead associate with the TYRO protein tyrosine kinase binding protein to transduce activating signals. The ligands for several KIR proteins are subsets of HLA class I molecules; thus, KIR proteins are thought to play an important role in regulation of the immune response. [provided by RefSeq, Jul 2008]

KIR2DS3 Gene

killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 3

Killer cell immunoglobulin-like receptors (KIRs) are transmembrane glycoproteins expressed by natural killer cells and subsets of T cells. The KIR genes are polymorphic and highly homologous and they are found in a cluster on chromosome 19q13.4 within the 1 Mb leukocyte receptor complex (LRC). The gene content of the KIR gene cluster varies among haplotypes, although several `framework` genes are found in all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR proteins are classified by the number of extracellular immunoglobulin domains (2D or 3D) and by whether they have a long (L) or short (S) cytoplasmic domain. KIR proteins with the long cytoplasmic domain transduce inhibitory signals upon ligand binding via an immune tyrosine-based inhibitory motif (ITIM), while KIR proteins with the short cytoplasmic domain lack the ITIM motif and instead associate with the TYRO protein tyrosine kinase binding protein to transduce activating signals. The ligands for several KIR proteins are subsets of HLA class I molecules; thus, KIR proteins are thought to play an important role in regulation of the immune response. [provided by RefSeq, Jul 2008]

KIR2DS1 Gene

killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 1

Killer cell immunoglobulin-like receptors (KIRs) are transmembrane glycoproteins expressed by natural killer cells and subsets of T cells. The KIR genes are polymorphic and highly homologous and they are found in a cluster on chromosome 19q13.4 within the 1 Mb leukocyte receptor complex (LRC). The gene content of the KIR gene cluster varies among haplotypes, although several `framework` genes are found in all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR proteins are classified by the number of extracellular immunoglobulin domains (2D or 3D) and by whether they have a long (L) or short (S) cytoplasmic domain. KIR proteins with the long cytoplasmic domain transduce inhibitory signals upon ligand binding via an immune tyrosine-based inhibitory motif (ITIM), while KIR proteins with the short cytoplasmic domain lack the ITIM motif and instead associate with the TYRO protein tyrosine kinase binding protein to transduce activating signals. The ligands for several KIR proteins are subsets of HLA class I molecules; thus, KIR proteins are thought to play an important role in regulation of the immune response. [provided by RefSeq, Jul 2008]

SDR16C6P Gene

short chain dehydrogenase/reductase family 16C, member 6, pseudogene

OPN1SW Gene

opsin 1 (cone pigments), short-wave-sensitive

This gene belongs to the G-protein coupled receptor 1 family, opsin subfamily. It encodes the blue cone pigment gene which is one of three types of cone photoreceptors responsible for normal color vision. Defects in this gene are the cause of tritan color blindness (tritanopia). Affected individuals lack blue and yellow sensory mechanisms while retaining those for red and green. Defective blue vision is characteristic. [provided by RefSeq, Jul 2008]

ACADS Gene

acyl-CoA dehydrogenase, C-2 to C-3 short chain

This gene encodes a tetrameric mitochondrial flavoprotein, which is a member of the acyl-CoA dehydrogenase family. This enzyme catalyzes the initial step of the mitochondrial fatty acid beta-oxidation pathway. Mutations in this gene have been associated with short-chain acyl-CoA dehydrogenase (SCAD) deficiency. Alternative splicing results in two variants which encode different isoforms. [provided by RefSeq, Oct 2014]

ECHS1 Gene

enoyl CoA hydratase, short chain, 1, mitochondrial

The protein encoded by this gene functions in the second step of the mitochondrial fatty acid beta-oxidation pathway. It catalyzes the hydration of 2-trans-enoyl-coenzyme A (CoA) intermediates to L-3-hydroxyacyl-CoAs. The gene product is a member of the hydratase/isomerase superfamily. It localizes to the mitochondrial matrix. Transcript variants utilizing alternative transcription initiation sites have been described in the literature. [provided by RefSeq, Jul 2008]

LOC100422348 Gene

short chain dehydrogenase/reductase family 42E, member 1 pseudogene

LOC100422346 Gene

short chain dehydrogenase/reductase family 42E, member 1 pseudogene

LOC100422347 Gene

short chain dehydrogenase/reductase family 42E, member 1 pseudogene

KIR3DS1 Gene

killer cell immunoglobulin-like receptor, three domains, short cytoplasmic tail, 1

Killer cell immunoglobulin-like receptors (KIRs) are transmembrane glycoproteins expressed by natural killer cells and subsets of T cells. The KIR genes are polymorphic and highly homologous and they are found in a cluster on chromosome 19q13.4 within the 1 Mb leukocyte receptor complex (LRC). The gene content of the KIR gene cluster varies among haplotypes, although several `framework` genes are found in all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR proteins are classified by the number of extracellular immunoglobulin domains (2D or 3D) and by whether they have a long (L) or short (S) cytoplasmic domain. KIR proteins with the long cytoplasmic domain transduce inhibitory signals upon ligand binding via an immune tyrosine-based inhibitory motif (ITIM), while KIR proteins with the short cytoplasmic domain lack the ITIM motif and instead associate with the TYRO protein tyrosine kinase binding protein to transduce activating signals. The ligands for several KIR proteins are subsets of HLA class I molecules; thus, KIR proteins are thought to play an important role in regulation of the immune response. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2013]

SDR42E1P1 Gene

short chain dehydrogenase/reductase family 42E, member 1 pseudogene 1

SEMA5B Gene

sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B

This gene encodes a member of the semaphorin protein family which regulates axon growth during development of the nervous system. The encoded protein has a characteristic Sema domain near the N-terminus, through which semaphorins bind to plexin, and five thrombospondin type 1 repeats in the C-terminal region of the protein. The protein product may be cleaved and exist as a secreted molecule (PMID: 19463192). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]

SEMA5A Gene

sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A

This gene belongs to the semaphorin gene family that encodes membrane proteins containing a semaphorin domain and several thrombospondin type-1 repeats. Members of this family are involved in axonal guidance during neural development. This gene has been implicated as an autism susceptibility gene.[provided by RefSeq, Jan 2010]

SCOC Gene

short coiled-coil protein

This gene encodes a short coiled-coiled domain-containing protein that localizes to the Golgi apparatus. The encoded protein interacts with ADP-ribosylation factor-like proteins. Pseudogenes of this gene are found on chromosomes 1 and 14. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2009]

SDR9C7 Gene

short chain dehydrogenase/reductase family 9C, member 7

This gene encodes a protein with similarity to the short-chain dehydrogenase/reductase (SDR) family but has not been shown to have retinoid or dehydrogenase activities. [provided by RefSeq, Apr 2010]

HSCR7 Gene

Hirschsprung disease, short-segment, 3

HSCR6 Gene

Hirschsprung disease, short-segment, 2

MRSS Gene

Mental retardation, X-linked, with short stature

SEMA3A Gene

sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A

This gene is a member of the semaphorin family and encodes a protein with an Ig-like C2-type (immunoglobulin-like) domain, a PSI domain and a Sema domain. This secreted protein can function as either a chemorepulsive agent, inhibiting axonal outgrowth, or as a chemoattractive agent, stimulating the growth of apical dendrites. In both cases, the protein is vital for normal neuronal pattern development. Increased expression of this protein is associated with schizophrenia and is seen in a variety of human tumor cell lines. Also, aberrant release of this protein is associated with the progression of Alzheimer's disease. [provided by RefSeq, Jul 2008]

SEMA3C Gene

sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C

This gene encodes a secreted glycoprotein that belongs to the semaphorin class 3 family of neuronal guidance cues. The encoded protein contains an N-terminal sema domain, integrin and immunoglobulin-like domains, and a C-terminal basic domain. Homodimerization and proteolytic cleavage of the C-terminal propeptide are necessary for the function of the encoded protein. It binds a neuropilin co-receptor before forming a heterotrimeric complex with an associated plexin. An increase in the expression of this gene correlates with an increase in cancer cell invasion and adhesion. Naturally occurring mutations in this gene are associated with Hirschsprung disease. [provided by RefSeq, May 2017]

SEMA3B Gene

sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3B

The protein encoded by this gene belongs to the class-3 semaphorin/collapsin family, whose members function in growth cone guidance during neuronal development. This family member inhibits axonal extension and has been shown to act as a tumor suppressor by inducing apoptosis. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Feb 2014]

SEMA3E Gene

sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E

Semaphorins are a large family of conserved secreted and membrane associated proteins which possess a semaphorin (Sema) domain and a PSI domain (found in plexins, semaphorins and integrins) in the N-terminal extracellular portion. Based on sequence and structural similarities, semaphorins are put into eight classes: invertebrates contain classes 1 and 2, viruses have class V, and vertebrates contain classes 3-7. Semaphorins serve as axon guidance ligands via multimeric receptor complexes, some (if not all) containing plexin proteins. This gene encodes a class 4 semaphorin. This gene encodes a class 3 semaphorin. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, May 2010]

SEMA3D Gene

sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D

This gene encodes a member of the semaphorin III family of secreted signaling proteins that are involved in axon guidance during neuronal development. The encoded protein contains an N-terminal Sema domain, an immunoglobulin like domain and a C-terminal basic domain. The protein encoded by this gene binds neuropilin and plays an important role in cardiovascular development. [provided by RefSeq, Aug 2016]

SEMA3G Gene

sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3G

The transcription of this gene is activated by PPAR-gamma, and the resulting protein product plays a role in endothelial cell migration. Expression of this gene also inhibits tumor cell migration and invasion. [provided by RefSeq, Jul 2016]

SEMA3F Gene

sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3F

This gene encodes a member of the semaphorin III family of secreted signaling proteins that are involved in axon guidance during neuronal development. The encoded protein contains an N-terminal Sema domain, an immunoglobulin loop and a C-terminal basic domain. This gene is expressed by the endothelial cells where it was found to act in an autocrine fashion to induce apoptosis, inhibit cell proliferation and survival, and function as an anti-tumorigenic agent. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2016]

LOC100422339 Gene

short chain dehydrogenase/reductase family 42E, member 1 pseudogene

SDR16C5 Gene

short chain dehydrogenase/reductase family 16C, member 5

This gene encodes a member of the short-chain alcohol dehydrogenase/reductase superfamily of proteins and is involved in the oxidation of retinol to retinaldehyde. The encoded protein is associated with the endoplasmic reticulum and is predicted to contain three transmembrane helices, suggesting that it is an integral membrane protein. It recognizes all-trans-retinol and all-trans-retinaldehyde as substrates and exhibits a strong preference for NAD(+)/NADH as cofactors. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]

LOC100422730 Gene

sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A pseudogene

SEMA4A Gene

sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A

This gene encodes a member of the semaphorin family of soluble and transmembrane proteins. Semaphorins are involved in numerous functions, including axon guidance, morphogenesis, carcinogenesis, and immunomodulation. The encoded protein is a single-pass type I membrane protein containing an immunoglobulin-like C2-type domain, a PSI domain and a sema domain. It inhibits axonal extension by providing local signals to specify territories inaccessible for growing axons. It is an activator of T-cell-mediated immunity and suppresses vascular endothelial growth factor (VEGF)-mediated endothelial cell migration and proliferation in vitro and angiogenesis in vivo. Mutations in this gene are associated with retinal degenerative diseases including retinitis pigmentosa type 35 (RP35) and cone-rod dystrophy type 10 (CORD10). Multiple alternatively spliced transcript variants encoding different isoforms have been identified.[provided by RefSeq, Sep 2010]

SEMA4B Gene

sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4B

Predicted to enable chemorepellent activity; neuropilin binding activity; and semaphorin receptor binding activity. Predicted to be involved in several processes, including axon guidance; neural crest cell migration; and semaphorin-plexin signaling pathway. Predicted to be located in membrane and synapse. Predicted to be active in glutamatergic synapse and postsynaptic density membrane. [provided by Alliance of Genome Resources, Mar 2025]

SEMA4C Gene

sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4C

Predicted to enable chemorepellent activity; neuropilin binding activity; and semaphorin receptor binding activity. Involved in muscle cell differentiation and positive regulation of stress-activated MAPK cascade. Located in extracellular space. [provided by Alliance of Genome Resources, Mar 2025]

SEMA4D Gene

sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4D

Enables identical protein binding activity; semaphorin receptor binding activity; and transmembrane signaling receptor activity. Involved in several processes, including ossification involved in bone maturation; positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction; and regulation of neuron projection development. Located in plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

SEMA4F Gene

sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4F

This gene encodes a transmembrane class IV semaphorin family protein, which plays a role in neural development. This gene may be involved in neurogenesis in prostate cancer, the development of neurofibromas, and breast cancer tumorigenesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2012]

SEMA4G Gene

sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4G

Semaphorins are a large family of conserved secreted and membrane associated proteins which possess a semaphorin (Sema) domain and a PSI domain (found in plexins, semaphorins and integrins) in the N-terminal extracellular portion. Based on sequence and structural similarities, semaphorins are put into eight classes: invertebrates contain classes 1 and 2, viruses have class V, and vertebrates contain classes 3-7. Semaphorins serve as axon guidance ligands via multimeric receptor complexes, some (if not all) containing plexin proteins. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2011]

SDR39U1 Gene

short chain dehydrogenase/reductase family 39U, member 1

This gene encodes a member of the short-chain dehydrogenases/reductases (SDR) superfamily, which includes both classical and extended types. The encoded protein represents an extended type, with similarity to epimerases. Alternatively spliced transcript variants that encode different protein isoforms have been described. [provided by RefSeq, Mar 2014]

LOC105371187 Gene

putative short-chain dehydrogenase/reductase family 42E member 2

STMP1 Gene

short transmembrane mitochondrial protein 1

Involved in mitochondrial cytochrome c oxidase assembly. Located in mitochondrion. Is active in mitochondrial inner membrane. [provided by Alliance of Genome Resources, Mar 2025]

LOC124901069 Gene

short transmembrane mitochondrial protein 1-like

SHORT syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

short syndrome Gene Set

From OMIM Gene-Disease Associations

genes associated with the short syndrome phenotype from the curated OMIM Gene-Disease Associations dataset.

Short Syndrome Gene Set

From DisGeNET Gene-Disease Associations

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

SHORT syndrome Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores 2025

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

SHORT syndrome Gene Set

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

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

SHORT syndrome Gene Set

From ClinVar Gene-Phenotype Associations 2025

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

Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

childhood-onset short-trunk short stature Gene Set

From HPO Gene-Disease Associations

genes associated with the childhood-onset short-trunk short stature phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

neonatal short-trunk short stature Gene Set

From HPO Gene-Disease Associations

genes associated with the neonatal short-trunk short stature phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

disproportionate short-trunk short stature Gene Set

From HPO Gene-Disease Associations

genes associated with the disproportionate short-trunk short stature phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

disproportionate short-limb short stature Gene Set

From HPO Gene-Disease Associations

genes associated with the disproportionate short-limb short stature phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

lethal short-limbed short stature Gene Set

From HPO Gene-Disease Associations

genes associated with the lethal short-limbed short stature phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

childhood onset short-limb short stature Gene Set

From HPO Gene-Disease Associations

genes associated with the childhood onset short-limb short stature phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

neonatal short-limb short stature Gene Set

From HPO Gene-Disease Associations

genes associated with the neonatal short-limb short stature phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Lethal Short-Limbed Short Stature Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Lethal Short-Limbed Short Stature in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Childhood-Onset Short-Trunk Short Stature Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Childhood-Onset Short-Trunk Short Stature in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Disproportionate Short-Limb Short Stature Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Disproportionate Short-Limb Short Stature in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Disproportionate Short-Trunk Short Stature Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Disproportionate Short-Trunk Short Stature in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Neonatal Short-Limb Short Stature Gene Set

From DisGeNET Gene-Phenotype Associations

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

Neonatal Short-Trunk Short Stature Gene Set

From DisGeNET Gene-Phenotype Associations

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

Childhood Onset Short-Limb Short Stature Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Childhood Onset Short-Limb Short Stature in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Infancy Onset Short-Trunk Short Stature Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Infancy Onset Short-Trunk Short Stature in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations 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.

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.

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.

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.

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.

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.

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.

BIDS brittle hair-impaired intellect-decreased fertility-short stature syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the BIDS brittle hair-impaired intellect-decreased fertility-short stature syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Yakut short stature syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Yakut short stature syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Short QT Syndrome 1 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Short QT Syndrome 1 from the curated CTD Gene-Disease Associations dataset.

Short QT Syndrome 3 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Short QT Syndrome 3 from the curated CTD Gene-Disease Associations dataset.

Short QT Syndrome 2 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Short QT Syndrome 2 from the curated CTD Gene-Disease Associations dataset.

Short Rib-Polydactyly Syndrome Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Short Rib-Polydactyly Syndrome from the curated CTD Gene-Disease Associations dataset.

short bowel syndrome Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

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

multiple organ failure; short bowel syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease multiple organ failure; short bowel syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

Short Bowel Syndrome Gene Set

From HuGE Navigator Gene-Phenotype Associations

genes associated with the Short Bowel Syndrome phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

ectodermal dysplasia/short stature syndrome Gene Set

From OMIM Gene-Disease Associations

genes associated with the ectodermal dysplasia/short stature syndrome phenotype from the curated OMIM Gene-Disease Associations dataset.

congenital short bowel syndrome Gene Set

From OMIM Gene-Disease Associations

genes associated with the congenital short bowel syndrome phenotype from the curated OMIM Gene-Disease Associations dataset.

short qt syndrome 1 Gene Set

From OMIM Gene-Disease Associations

genes associated with the short qt syndrome 1 phenotype from the curated OMIM Gene-Disease Associations dataset.

short qt syndrome 3 Gene Set

From OMIM Gene-Disease Associations

genes associated with the short qt syndrome 3 phenotype from the curated OMIM Gene-Disease Associations dataset.

short qt syndrome 2 Gene Set

From OMIM Gene-Disease Associations

genes associated with the short qt syndrome 2 phenotype from the curated OMIM Gene-Disease Associations dataset.

?retinal dystrophy, juvenile cataracts, and short stature syndrome Gene Set

From OMIM Gene-Disease Associations

genes associated with the ?retinal dystrophy, juvenile cataracts, and short stature syndrome phenotype from the curated OMIM Gene-Disease Associations dataset.

Ear, Patella, Short Stature Syndrome Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Ear, Patella, Short Stature Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Short Sleeper Syndrome Gene Set

From DisGeNET Gene-Disease Associations

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

Short Qt Syndrome Gene Set

From DisGeNET Gene-Disease Associations

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

Short Rib-Polydactyly Syndrome Gene Set

From DisGeNET Gene-Disease Associations

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

Short Bowel Syndrome Gene Set

From DisGeNET Gene-Disease Associations

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

Short QT syndrome Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores 2025

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

Short bowel syndrome Gene Set

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

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

Short QT syndrome Gene Set

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

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

X-linked intellectual disability-short stature-overweight syndrome Gene Set

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

genes co-occuring with the disease X-linked intellectual disability-short stature-overweight syndrome in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Short QT syndrome Gene Set

From ClinVar Gene-Phenotype Associations 2025

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

Short stature-optic atrophy-Pelger-Huet anomaly syndrome Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Short stature-optic atrophy-Pelger-Huet anomaly syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Facial dysmorphism-immunodeficiency-livedo-short stature syndrome Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Facial dysmorphism-immunodeficiency-livedo-short stature syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Congenital short bowel syndrome Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Congenital short bowel syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Short rib-polydactyly syndrome Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Short rib-polydactyly syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Short stature-pituitary and cerebellar defects-small sella turcica syndrome Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Short stature-pituitary and cerebellar defects-small sella turcica syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Short stature-brachydactyly-obesity-global developmental delay syndrome Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Short stature-brachydactyly-obesity-global developmental delay syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

X-linked intellectual disability-short stature-overweight syndrome Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the X-linked intellectual disability-short stature-overweight syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Short rib polydactyly syndrome Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Short rib polydactyly syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome 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.

short insular gyri, right Gene Set

From Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles

genes with high or low expression in short insular gyri, right relative to other tissues from the Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles dataset.

short insular gyri, left Gene Set

From Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles

genes with high or low expression in short insular gyri, left relative to other tissues from the Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles dataset.

Short stature, idiopathic, autosomal Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Short stature, idiopathic, autosomal phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Short stature, optic nerve atrophy, and pelger-huet anomaly Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Short stature, optic nerve atrophy, and pelger-huet anomaly phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Facial dysmorphism, immunodeficiency, livedo, and short stature Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Facial dysmorphism, immunodeficiency, livedo, and short stature phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Short stature, idiopathic, X-linked Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Short stature, idiopathic, X-linked phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Short-sleeper Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Short-sleeper phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Short-rib thoracic dysplasia 11 with or without polydactyly Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Short-rib thoracic dysplasia 11 with or without polydactyly phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Microcephaly, short stature, and impaired glucose metabolism Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Microcephaly, short stature, and impaired glucose metabolism phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Short-rib thoracic dysplasia 10 with or without polydactyly Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Short-rib thoracic dysplasia 10 with or without polydactyly phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Brachyrachia (short spine dysplasia) Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Brachyrachia (short spine dysplasia) phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Short-rib thoracic dysplasia 3 with or without polydactyly Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Short-rib thoracic dysplasia 3 with or without polydactyly phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Short stature, auditory canal atresia, mandibular hypoplasia, skeletal abnormalities Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Short stature, auditory canal atresia, mandibular hypoplasia, skeletal abnormalities phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Spondylometaepiphyseal dysplasia short limb-hand type Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Spondylometaepiphyseal dysplasia short limb-hand type phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

X-linked mental retardation with short stature, hypogonadism and abnormal gait Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the X-linked mental retardation with short stature, hypogonadism and abnormal gait phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

short-chain collagen trimer Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the short-chain collagen trimer cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

short-chain collagen trimer Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the short-chain collagen trimer cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

OSTEOCHONDRITIS DISSECANS, SHORT STATURE, AND EARLY-ONSET OSTEOARTHRITIS Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease OSTEOCHONDRITIS DISSECANS, SHORT STATURE, AND EARLY-ONSET OSTEOARTHRITIS from the curated CTD Gene-Disease Associations dataset.

Mental Retardation, X-Linked, with Short Stature Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Mental Retardation, X-Linked, with Short Stature from the curated CTD Gene-Disease Associations dataset.

Short Stature, Idiopathic, Autosomal Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Short Stature, Idiopathic, Autosomal from the curated CTD Gene-Disease Associations dataset.

Short Stature, Idiopathic, X-Linked Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Short Stature, Idiopathic, X-Linked from the curated CTD Gene-Disease Associations dataset.

Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type from the curated CTD Gene-Disease Associations dataset.

Short chain Acyl CoA dehydrogenase deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Short chain Acyl CoA dehydrogenase deficiency from the curated CTD Gene-Disease Associations dataset.

SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY from the curated CTD Gene-Disease Associations dataset.

Memory, Short-Term Gene Set

From dbGAP Gene-Trait Associations

genes associated with the trait Memory, Short-Term in GWAS and other genetic association datasets from the dbGAP Gene-Trait Associations dataset.

memory, short-term Gene Set

From GAD Gene-Disease Associations

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

short stature Gene Set

From GAD Gene-Disease Associations

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

idiopathic short stature Gene Set

From GAD Gene-Disease Associations

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

short-term response to haloperidol treatment Gene Set

From GAD Gene-Disease Associations

genes associated with the disease short-term response to haloperidol treatment in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

short Gene Set

From GeneRIF Biological Term Annotations

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

16478745-SuppTable1-short Gene Set

From GeneSigDB Published Gene Signatures

genes in signature reported in the publication with PubMedID 16478745-SuppTable1-short from the GeneSigDB Published Gene Signatures dataset.

short-chain fatty acid metabolic process Gene Set

From GO Biological Process Annotations 2015

genes participating in the short-chain fatty acid metabolic process biological process from the curated GO Biological Process Annotations 2015 dataset.

regulation of short-term neuronal synaptic plasticity Gene Set

From GO Biological Process Annotations 2015

genes participating in the regulation of short-term neuronal synaptic plasticity biological process from the curated GO Biological Process Annotations 2015 dataset.

short-chain fatty acid transport Gene Set

From GO Biological Process Annotations 2015

genes participating in the short-chain fatty acid transport biological process from the curated GO Biological Process Annotations 2015 dataset.

short-chain fatty acid biosynthetic process Gene Set

From GO Biological Process Annotations 2015

genes participating in the short-chain fatty acid biosynthetic process biological process from the curated GO Biological Process Annotations 2015 dataset.

short-chain fatty acid import Gene Set

From GO Biological Process Annotations 2015

genes participating in the short-chain fatty acid import biological process from the curated GO Biological Process Annotations 2015 dataset.

short-term memory Gene Set

From GO Biological Process Annotations 2015

genes participating in the short-term memory biological process from the curated GO Biological Process Annotations 2015 dataset.

short-chain fatty acid catabolic process Gene Set

From GO Biological Process Annotations 2015

genes participating in the short-chain fatty acid catabolic process biological process from the curated GO Biological Process Annotations 2015 dataset.

short-chain collagen trimer Gene Set

From GO Cellular Component Annotations 2015

proteins localized to the short-chain collagen trimer cellular component from the curated GO Cellular Component Annotations 2015 dataset.

short-chain fatty acid uptake transporter activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the short-chain fatty acid uptake transporter activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

short-chain carboxylesterase activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the short-chain carboxylesterase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

short-chain fatty acid transporter activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the short-chain fatty acid transporter activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

Hypertension risk in short sleep duration Gene Set

From GWAS Catalog SNP-Phenotype Associations

genes associated with the Hypertension risk in short sleep duration phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset.

short attention span Gene Set

From GWASdb SNP-Phenotype Associations

genes associated with the short attention span phenotype in GWAS datasets from the GWASdb SNP-Phenotype Associations dataset.

short distal phalanx of finger Gene Set

From HPO Gene-Disease Associations

genes associated with the short distal phalanx of finger phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

moderately short stature Gene Set

From HPO Gene-Disease Associations

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

short nasal bridge Gene Set

From HPO Gene-Disease Associations

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

short chordae tendineae of the tricuspid valve Gene Set

From HPO Gene-Disease Associations

genes associated with the short chordae tendineae of the tricuspid valve phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

short nose Gene Set

From HPO Gene-Disease Associations

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

short 5th finger Gene Set

From HPO Gene-Disease Associations

genes associated with the short 5th finger phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

short 5th toe Gene Set

From HPO Gene-Disease Associations

genes associated with the short 5th toe phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

short 4th toe Gene Set

From HPO Gene-Disease Associations

genes associated with the short 4th toe phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

short diaphyses Gene Set

From HPO Gene-Disease Associations

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

short metacarpals with rounded proximal ends Gene Set

From HPO Gene-Disease Associations

genes associated with the short metacarpals with rounded proximal ends phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

short 1st metacarpal Gene Set

From HPO Gene-Disease Associations

genes associated with the short 1st metacarpal phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

short femoral neck Gene Set

From HPO Gene-Disease Associations

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

short digit Gene Set

From HPO Gene-Disease Associations

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

relatively short spine Gene Set

From HPO Gene-Disease Associations

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

short sacroiliac notch Gene Set

From HPO Gene-Disease Associations

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

short chordae tendineae of the mitral valve Gene Set

From HPO Gene-Disease Associations

genes associated with the short chordae tendineae of the mitral valve phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

short columella Gene Set

From HPO Gene-Disease Associations

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

short nail Gene Set

From HPO Gene-Disease Associations

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

short stature Gene Set

From HPO Gene-Disease Associations

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

short fourth metatarsal Gene Set

From HPO Gene-Disease Associations

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

short humerus Gene Set

From HPO Gene-Disease Associations

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

mesomelic short stature Gene Set

From HPO Gene-Disease Associations

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

short middle phalanx of finger Gene Set

From HPO Gene-Disease Associations

genes associated with the short middle phalanx of finger phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

short philtrum Gene Set

From HPO Gene-Disease Associations

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

short metatarsal Gene Set

From HPO Gene-Disease Associations

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

short umbilical cord Gene Set

From HPO Gene-Disease Associations

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

short upper lip Gene Set

From HPO Gene-Disease Associations

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

short distal phalanx of the 3rd finger Gene Set

From HPO Gene-Disease Associations

genes associated with the short distal phalanx of the 3rd finger phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

short palpebral fissure Gene Set

From HPO Gene-Disease Associations

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

short femur Gene Set

From HPO Gene-Disease Associations

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

short phalanx of the thumb Gene Set

From HPO Gene-Disease Associations

genes associated with the short phalanx of the thumb phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

short attention span Gene Set

From HPO Gene-Disease Associations

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

short 5th metacarpal Gene Set

From HPO Gene-Disease Associations

genes associated with the short 5th metacarpal phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

short middle phalanx of the 5th finger Gene Set

From HPO Gene-Disease Associations

genes associated with the short middle phalanx of the 5th finger phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

short proximal phalanx of finger Gene Set

From HPO Gene-Disease Associations

genes associated with the short proximal phalanx of finger phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

short chin Gene Set

From HPO Gene-Disease Associations

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

short thorax Gene Set

From HPO Gene-Disease Associations

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

short mandibular rami Gene Set

From HPO Gene-Disease Associations

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

short lingual frenulum Gene Set

From HPO Gene-Disease Associations

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

disproportionate short stature Gene Set

From HPO Gene-Disease Associations

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

short 3rd metacarpal Gene Set

From HPO Gene-Disease Associations

genes associated with the short 3rd metacarpal phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

short palm Gene Set

From HPO Gene-Disease Associations

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

short mandibular condyles Gene Set

From HPO Gene-Disease Associations

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

short 2nd toe Gene Set

From HPO Gene-Disease Associations

genes associated with the short 2nd toe phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

short proximal phalanx of thumb Gene Set

From HPO Gene-Disease Associations

genes associated with the short proximal phalanx of thumb phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

mild short stature Gene Set

From HPO Gene-Disease Associations

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

short middle phalanx of the 2nd finger Gene Set

From HPO Gene-Disease Associations

genes associated with the short middle phalanx of the 2nd finger phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

short neck Gene Set

From HPO Gene-Disease Associations

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

severe short-limb dwarfism Gene Set

From HPO Gene-Disease Associations

genes associated with the severe short-limb dwarfism phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

short phalanx of finger Gene Set

From HPO Gene-Disease Associations

genes associated with the short phalanx of finger phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

short foot Gene Set

From HPO Gene-Disease Associations

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

short distal phalanx of the 5th finger Gene Set

From HPO Gene-Disease Associations

genes associated with the short distal phalanx of the 5th finger phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

short ribs Gene Set

From HPO Gene-Disease Associations

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

short proximal phalanx of hallux Gene Set

From HPO Gene-Disease Associations

genes associated with the short proximal phalanx of hallux phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

short 3rd finger Gene Set

From HPO Gene-Disease Associations

genes associated with the short 3rd finger phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

short ear Gene Set

From HPO Gene-Disease Associations

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

proportionate short stature Gene Set

From HPO Gene-Disease Associations

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

short toe Gene Set

From HPO Gene-Disease Associations

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

short thumb Gene Set

From HPO Gene-Disease Associations

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

short iliac bones Gene Set

From HPO Gene-Disease Associations

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

short lower limbs Gene Set

From HPO Gene-Disease Associations

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

short distal phalanx of the thumb Gene Set

From HPO Gene-Disease Associations

genes associated with the short distal phalanx of the thumb phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

short phalanx of hallux Gene Set

From HPO Gene-Disease Associations

genes associated with the short phalanx of hallux phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

short hard palate Gene Set

From HPO Gene-Disease Associations

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

short nasal septum Gene Set

From HPO Gene-Disease Associations

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

short distal phalanx of toe Gene Set

From HPO Gene-Disease Associations

genes associated with the short distal phalanx of toe phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

short metacarpal Gene Set

From HPO Gene-Disease Associations

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

short distal phalanx of the 2nd finger Gene Set

From HPO Gene-Disease Associations

genes associated with the short distal phalanx of the 2nd finger phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

short long bone Gene Set

From HPO Gene-Disease Associations

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

short sternum Gene Set

From HPO Gene-Disease Associations

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

short 4th finger Gene Set

From HPO Gene-Disease Associations

genes associated with the short 4th finger phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

short stepped shuffling gait Gene Set

From HPO Gene-Disease Associations

genes associated with the short stepped shuffling gait phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

short distal phalanx of the 4th finger Gene Set

From HPO Gene-Disease Associations

genes associated with the short distal phalanx of the 4th finger phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

short tibia Gene Set

From HPO Gene-Disease Associations

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

short 2nd finger Gene Set

From HPO Gene-Disease Associations

genes associated with the short 2nd finger phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

short 4th metacarpal Gene Set

From HPO Gene-Disease Associations

genes associated with the short 4th metacarpal phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

severe short stature Gene Set

From HPO Gene-Disease Associations

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

short tubular bones (hand) Gene Set

From HPO Gene-Disease Associations

genes associated with the short tubular bones (hand) phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

short clavicles Gene Set

From HPO Gene-Disease Associations

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

short middle phalanx of toe Gene Set

From HPO Gene-Disease Associations

genes associated with the short middle phalanx of toe phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

short first metatarsal Gene Set

From HPO Gene-Disease Associations

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

short finger Gene Set

From HPO Gene-Disease Associations

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

short hallux Gene Set

From HPO Gene-Disease Associations

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

Memory, Short-Term Gene Set

From HuGE Navigator Gene-Phenotype Associations

genes associated with the Memory, Short-Term phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

Short hematopoietin receptor, family 1, conserved site Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Short hematopoietin receptor, family 1, conserved site protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Short hematopoietin receptor, family 2, conserved site Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Short hematopoietin receptor, family 2, conserved site protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Short-chain dehydrogenase/reductase, conserved site Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Short-chain dehydrogenase/reductase, conserved site protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Short-chain dehydrogenase/reductase SDR Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Short-chain dehydrogenase/reductase SDR protein domain from the InterPro Predicted Protein Domain Annotations dataset.

short nasal bone Gene Set

From MPO Gene-Phenotype Associations

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

short frontal bone Gene Set

From MPO Gene-Phenotype Associations

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

short perineum Gene Set

From MPO Gene-Phenotype Associations

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

short tail Gene Set

From MPO Gene-Phenotype Associations

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

short photoreceptor inner segment Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the short photoreceptor inner segment phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

short squamosal bone Gene Set

From MPO Gene-Phenotype Associations

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

short malleus manubrium Gene Set

From MPO Gene-Phenotype Associations

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

short metestrus Gene Set

From MPO Gene-Phenotype Associations

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

short metatarsal bones Gene Set

From MPO Gene-Phenotype Associations

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

short diestrus Gene Set

From MPO Gene-Phenotype Associations

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

short photoreceptor outer segment Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the short photoreceptor outer segment phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

short vertebral body Gene Set

From MPO Gene-Phenotype Associations

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

short zygomatic bone Gene Set

From MPO Gene-Phenotype Associations

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

short fibula Gene Set

From MPO Gene-Phenotype Associations

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

short palate Gene Set

From MPO Gene-Phenotype Associations

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

short premaxilla Gene Set

From MPO Gene-Phenotype Associations

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

short excitatory postsynaptic current decay time Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the short excitatory postsynaptic current decay time phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

short proestrus Gene Set

From MPO Gene-Phenotype Associations

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

short ureter Gene Set

From MPO Gene-Phenotype Associations

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

short humerus Gene Set

From MPO Gene-Phenotype Associations

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

short uterine horn Gene Set

From MPO Gene-Phenotype Associations

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

abnormal short term object recognition memory Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the abnormal short term object recognition memory phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

short tibia Gene Set

From MPO Gene-Phenotype Associations

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

short radius Gene Set

From MPO Gene-Phenotype Associations

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

short ulna Gene Set

From MPO Gene-Phenotype Associations

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

short stride length Gene Set

From MPO Gene-Phenotype Associations

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

short vibrissae Gene Set

From MPO Gene-Phenotype Associations

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

short umbilical cord Gene Set

From MPO Gene-Phenotype Associations

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

short malleus Gene Set

From MPO Gene-Phenotype Associations

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

short hair Gene Set

From MPO Gene-Phenotype Associations

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

short lumbar vertebrae Gene Set

From MPO Gene-Phenotype Associations

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

short estrous cycle Gene Set

From MPO Gene-Phenotype Associations

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

short mandible Gene Set

From MPO Gene-Phenotype Associations

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

short rostral-caudal axis Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the short rostral-caudal axis phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

short cochlear hair cell stereocilia Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the short cochlear hair cell stereocilia phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

short maxilla Gene Set

From MPO Gene-Phenotype Associations

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

short kidney papilla Gene Set

From MPO Gene-Phenotype Associations

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

short outer hair cell stereocilia Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the short outer hair cell stereocilia phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

short endolymphatic duct Gene Set

From MPO Gene-Phenotype Associations

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

short oviduct Gene Set

From MPO Gene-Phenotype Associations

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

short presphenoid bone Gene Set

From MPO Gene-Phenotype Associations

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

short ribs Gene Set

From MPO Gene-Phenotype Associations

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

short snout Gene Set

From MPO Gene-Phenotype Associations

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

short vertebral column Gene Set

From MPO Gene-Phenotype Associations

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

short nails Gene Set

From MPO Gene-Phenotype Associations

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

short cochlear outer hair cells Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the short cochlear outer hair cells phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

short gestation period Gene Set

From MPO Gene-Phenotype Associations

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

short sternum Gene Set

From MPO Gene-Phenotype Associations

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

abnormal short term spatial reference memory Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the abnormal short term spatial reference memory phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

short neck Gene Set

From MPO Gene-Phenotype Associations

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

short femur Gene Set

From MPO Gene-Phenotype Associations

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

short inner hair cell stereocilia Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the short inner hair cell stereocilia phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

short sperm flagellum Gene Set

From MPO Gene-Phenotype Associations

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

short limbs Gene Set

From MPO Gene-Phenotype Associations

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

short metacarpal bones Gene Set

From MPO Gene-Phenotype Associations

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

short incisors Gene Set

From MPO Gene-Phenotype Associations

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

short scapula Gene Set

From MPO Gene-Phenotype Associations

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

short scala media Gene Set

From MPO Gene-Phenotype Associations

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

short trachea Gene Set

From MPO Gene-Phenotype Associations

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

short estrus Gene Set

From MPO Gene-Phenotype Associations

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

short-rib thoracic dysplasia 10 with or without polydactyly Gene Set

From OMIM Gene-Disease Associations

genes associated with the short-rib thoracic dysplasia 10 with or without polydactyly phenotype from the curated OMIM Gene-Disease Associations dataset.

short-rib thoracic dysplasia 4 with or without polydactyly Gene Set

From OMIM Gene-Disease Associations

genes associated with the short-rib thoracic dysplasia 4 with or without polydactyly phenotype from the curated OMIM Gene-Disease Associations dataset.

[short sleeper] Gene Set

From OMIM Gene-Disease Associations

genes associated with the [short sleeper] phenotype from the curated OMIM Gene-Disease Associations dataset.

short stature, onychodysplasia, facial dysmorphism, and hypotrichosis Gene Set

From OMIM Gene-Disease Associations

genes associated with the short stature, onychodysplasia, facial dysmorphism, and hypotrichosis phenotype from the curated OMIM Gene-Disease Associations dataset.

short-rib thoracic dysplasia 6 with or without polydactyly Gene Set

From OMIM Gene-Disease Associations

genes associated with the short-rib thoracic dysplasia 6 with or without polydactyly phenotype from the curated OMIM Gene-Disease Associations dataset.

short-rib thoracic dysplasia 7 with or without polydactyly Gene Set

From OMIM Gene-Disease Associations

genes associated with the short-rib thoracic dysplasia 7 with or without polydactyly phenotype from the curated OMIM Gene-Disease Associations dataset.

spondylometaepiphyseal dysplasia, short limb-hand type Gene Set

From OMIM Gene-Disease Associations

genes associated with the spondylometaepiphyseal dysplasia, short limb-hand type phenotype from the curated OMIM Gene-Disease Associations dataset.

short stature Gene Set

From OMIM Gene-Disease Associations

genes associated with the short stature phenotype from the curated OMIM Gene-Disease Associations dataset.

short-rib thoracic dysplasia 11 with or without polydactyly Gene Set

From OMIM Gene-Disease Associations

genes associated with the short-rib thoracic dysplasia 11 with or without polydactyly phenotype from the curated OMIM Gene-Disease Associations dataset.

short stature, auditory canal atresia, mandibular hypoplasia, skeletal abnormalities Gene Set

From OMIM Gene-Disease Associations

genes associated with the short stature, auditory canal atresia, mandibular hypoplasia, skeletal abnormalities phenotype from the curated OMIM Gene-Disease Associations dataset.

mental retardation, x-linked, with short stature Gene Set

From OMIM Gene-Disease Associations

genes associated with the mental retardation, x-linked, with short stature phenotype from the curated OMIM Gene-Disease Associations dataset.

short-rib thoracic dysplasia 9 with or without polydactyly Gene Set

From OMIM Gene-Disease Associations

genes associated with the short-rib thoracic dysplasia 9 with or without polydactyly phenotype from the curated OMIM Gene-Disease Associations dataset.

acyl-coa dehydrogenase, short-chain, deficiency of Gene Set

From OMIM Gene-Disease Associations

genes associated with the acyl-coa dehydrogenase, short-chain, deficiency of phenotype from the curated OMIM Gene-Disease Associations dataset.

microcephaly, short stature, and impaired glucose metabolism Gene Set

From OMIM Gene-Disease Associations

genes associated with the microcephaly, short stature, and impaired glucose metabolism phenotype from the curated OMIM Gene-Disease Associations dataset.

short-rib thoracic dysplasia 3 with or without polydactyly Gene Set

From OMIM Gene-Disease Associations

genes associated with the short-rib thoracic dysplasia 3 with or without polydactyly phenotype from the curated OMIM Gene-Disease Associations dataset.

osteochondritis dissecans, short stature, and early-onset osteoarthritis Gene Set

From OMIM Gene-Disease Associations

genes associated with the osteochondritis dissecans, short stature, and early-onset osteoarthritis phenotype from the curated OMIM Gene-Disease Associations dataset.

short-rib thoracic dysplasia 8 with or without polydactyly Gene Set

From OMIM Gene-Disease Associations

genes associated with the short-rib thoracic dysplasia 8 with or without polydactyly phenotype from the curated OMIM Gene-Disease Associations dataset.

short stature with microcephaly and distinctive facies Gene Set

From OMIM Gene-Disease Associations

genes associated with the short stature with microcephaly and distinctive facies phenotype from the curated OMIM Gene-Disease Associations dataset.

short-rib thoracic dysplasia 2 with or without polydactyly Gene Set

From OMIM Gene-Disease Associations

genes associated with the short-rib thoracic dysplasia 2 with or without polydactyly phenotype from the curated OMIM Gene-Disease Associations dataset.

short stature, idiopathic familial Gene Set

From OMIM Gene-Disease Associations

genes associated with the short stature, idiopathic familial phenotype from the curated OMIM Gene-Disease Associations dataset.

short stature, optic nerve atrophy, and pelger-huet anomaly Gene Set

From OMIM Gene-Disease Associations

genes associated with the short stature, optic nerve atrophy, and pelger-huet anomaly phenotype from the curated OMIM Gene-Disease Associations dataset.

short-rib thoracic dysplasia 5 with or without polydactyly Gene Set

From OMIM Gene-Disease Associations

genes associated with the short-rib thoracic dysplasia 5 with or without polydactyly phenotype from the curated OMIM Gene-Disease Associations dataset.

multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects Gene Set

From OMIM Gene-Disease Associations

genes associated with the multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects phenotype from the curated OMIM Gene-Disease Associations dataset.

Short Segment Hirschsprung'S Disease Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Short Segment Hirschsprung'S Disease in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Short Corpus Callosum Gene Set

From DisGeNET Gene-Disease Associations

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

Short-Term Memory Impairment Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Short-Term Memory Impairment in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Short Stature Gene Set

From DisGeNET Gene-Disease Associations

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

Short Stature Homeobox Deficiency Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Short Stature Homeobox Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Short Distal Phalanx Gene Set

From DisGeNET Gene-Disease Associations

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

Short Palate Gene Set

From DisGeNET Gene-Disease Associations

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

Short 2Nd Toe Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Short 2Nd Toe in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Short-Rib Thoracic Dysplasia Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Short-Rib Thoracic Dysplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Short Hard Palate Gene Set

From DisGeNET Gene-Disease Associations

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

Spondyloperipheral Dysplasia Short Ulna Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Spondyloperipheral Dysplasia Short Ulna in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Pituitary Short Stature Gene Set

From DisGeNET Gene-Disease Associations

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

Short 5Th Finger Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Short 5Th Finger in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Short Rib Dysplasia Gene Set

From DisGeNET Gene-Disease Associations

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

Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Short Middle Phalanx Gene Set

From DisGeNET Gene-Disease Associations

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

Short Chordae Tendineae Of The Mitral Valve Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Short Chordae Tendineae Of The Mitral Valve in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Short Chordae Tendineae Of The Tricuspid Valve Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Short Chordae Tendineae Of The Tricuspid Valve in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Severe Short-Limb Dwarfism Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Severe Short-Limb Dwarfism in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Short Bowel Gene Set

From DisGeNET Gene-Disease Associations

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

Short 3Rd Finger Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Short 3Rd Finger in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Short Digit Gene Set

From DisGeNET Gene-Disease Associations

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

Short Stature, Idiopathic, Autosomal Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Short Stature, Idiopathic, Autosomal in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Short Fifth Metatarsal Gene Set

From DisGeNET Gene-Disease Associations

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

Joint Laxity, Short Stature, And Myopia Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Joint Laxity, Short Stature, And Myopia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Short Diaphyses Gene Set

From DisGeNET Gene-Disease Associations

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

Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Poor Short-Term Memory Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Poor Short-Term Memory in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Shox-Related Short Stature Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Shox-Related Short Stature in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Short 5Th Toe Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Short 5Th Toe in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Relatively Short Spine Gene Set

From DisGeNET Gene-Disease Associations

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

Short Stature Gene Set

From DisGeNET Gene-Phenotype Associations

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

Short Stature, Ctcae Gene Set

From DisGeNET Gene-Phenotype Associations

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

Short Finger Gene Set

From DisGeNET Gene-Phenotype Associations

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

Short Nose Gene Set

From DisGeNET Gene-Phenotype Associations

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

Short Distal Phalanx Gene Set

From DisGeNET Gene-Phenotype Associations

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

Short Hallux Gene Set

From DisGeNET Gene-Phenotype Associations

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

Short Neck Gene Set

From DisGeNET Gene-Phenotype Associations

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

Short Lower Third Of Face Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Short Lower Third Of Face in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Disproportionate Short Stature Gene Set

From DisGeNET Gene-Phenotype Associations

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

Proportionate Short Stature Gene Set

From DisGeNET Gene-Phenotype Associations

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

Short Thorax Gene Set

From DisGeNET Gene-Phenotype Associations

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

Short Columella Gene Set

From DisGeNET Gene-Phenotype Associations

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

Short Neck (In Some Patients) Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Short Neck (In Some Patients) in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Short Upturned Nose Gene Set

From DisGeNET Gene-Phenotype Associations

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

Short 1St Metacarpal Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Short 1St Metacarpal in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Short Toe Gene Set

From DisGeNET Gene-Phenotype Associations

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

Short Extremities Gene Set

From DisGeNET Gene-Phenotype Associations

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

Short Phalanx Of Finger Gene Set

From DisGeNET Gene-Phenotype Associations

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

Short Philtrum Gene Set

From DisGeNET Gene-Phenotype Associations

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

Short Foot Gene Set

From DisGeNET Gene-Phenotype Associations

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

Short Long Bone Gene Set

From DisGeNET Gene-Phenotype Associations

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

Short Metacarpals With Rounded Proximal Ends Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Short Metacarpals With Rounded Proximal Ends in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Short Palm Gene Set

From DisGeNET Gene-Phenotype Associations

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

Memory, Short-Term Gene Set

From DisGeNET Gene-Phenotype Associations

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

Short Stepped Shuffling Gait Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Short Stepped Shuffling Gait in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Short Humerus Gene Set

From DisGeNET Gene-Phenotype Associations

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

Short Ribs Gene Set

From DisGeNET Gene-Phenotype Associations

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

Short Tibia Gene Set

From DisGeNET Gene-Phenotype Associations

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

Mild Short Stature Gene Set

From DisGeNET Gene-Phenotype Associations

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

Short Leg Gene Set

From DisGeNET Gene-Phenotype Associations

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

Short Palpebral Fissure Gene Set

From DisGeNET Gene-Phenotype Associations

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

Short Upper Lip Gene Set

From DisGeNET Gene-Phenotype Associations

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

Short Sternum Gene Set

From DisGeNET Gene-Phenotype Associations

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

Short Nasal Septum Gene Set

From DisGeNET Gene-Phenotype Associations

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

Short Telomere Length Gene Set

From DisGeNET Gene-Phenotype Associations

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

Short Clavicle Gene Set

From DisGeNET Gene-Phenotype Associations

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

Short Femoral Neck Gene Set

From DisGeNET Gene-Phenotype Associations

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

Short Iliac Bones Gene Set

From DisGeNET Gene-Phenotype Associations

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

Short Metacarpal Gene Set

From DisGeNET Gene-Phenotype Associations

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

Short Frenulum Of Tongue Gene Set

From DisGeNET Gene-Phenotype Associations

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

Short Metatarsal Gene Set

From DisGeNET Gene-Phenotype Associations

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

Short 2Nd Finger Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Short 2Nd Finger in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Short 2Nd Metacarpal Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Short 2Nd Metacarpal in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Short 5Th Metacarpal Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Short 5Th Metacarpal in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Short Middle Phalanx Gene Set

From DisGeNET Gene-Phenotype Associations

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

Short Proximal Phalanx Gene Set

From DisGeNET Gene-Phenotype Associations

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

Short Ear Gene Set

From DisGeNET Gene-Phenotype Associations

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

Short Sperm Flagella Gene Set

From DisGeNET Gene-Phenotype Associations

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

Moderately Short Stature Gene Set

From DisGeNET Gene-Phenotype Associations

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

Short Tubular Bones Of The Hand Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Short Tubular Bones Of The Hand in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Short 4Th Metacarpal Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Short 4Th Metacarpal in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Short Fourth Metatarsal Gene Set

From DisGeNET Gene-Phenotype Associations

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

Short Sacroiliac Notch Gene Set

From DisGeNET Gene-Phenotype Associations

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

Short 3Rd Metacarpal Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Short 3Rd Metacarpal in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Short Face Gene Set

From DisGeNET Gene-Phenotype Associations

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

Deficit In Phonologic Short-Term Memory Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Deficit In Phonologic Short-Term Memory in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Short Third Metatarsal Gene Set

From DisGeNET Gene-Phenotype Associations

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

Short First Metatarsal Gene Set

From DisGeNET Gene-Phenotype Associations

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

Short Stature, Postnatal Gene Set

From DisGeNET Gene-Phenotype Associations

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

Short-Rib Thoracic Dysplasia Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Short-Rib Thoracic Dysplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Short Mandibular Rami Gene Set

From DisGeNET Gene-Phenotype Associations

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

Short Cord Gene Set

From DisGeNET Gene-Phenotype Associations

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

Short Nasal Bridge Gene Set

From DisGeNET Gene-Phenotype Associations

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

Dorsolateral Bowed, Short Radii Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Dorsolateral Bowed, Short Radii in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Mesomelic Short Stature Gene Set

From DisGeNET Gene-Phenotype Associations

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

Short Forearm Gene Set

From DisGeNET Gene-Phenotype Associations

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

Short Uvula Gene Set

From DisGeNET Gene-Phenotype Associations

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

Short 4Th Toe Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Short 4Th Toe in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Short Dental Roots Gene Set

From DisGeNET Gene-Phenotype Associations

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

Short Fetal Femur Length Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Short Fetal Femur Length in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Short Bowed Radii Gene Set

From DisGeNET Gene-Phenotype Associations

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

regulation of short-term neuronal synaptic plasticity Gene Set

From GO Biological Process Annotations 2023

genes participating in the regulation of short-term neuronal synaptic plasticity biological process from the curated GO Biological Process Annotations 2023 dataset.

short-term memory Gene Set

From GO Biological Process Annotations 2023

genes participating in the short-term memory biological process from the curated GO Biological Process Annotations 2023 dataset.

short-term synaptic potentiation Gene Set

From GO Biological Process Annotations 2023

genes participating in the short-term synaptic potentiation biological process from the curated GO Biological Process Annotations 2023 dataset.

short-chain fatty acid catabolic process Gene Set

From GO Biological Process Annotations 2023

genes participating in the short-chain fatty acid catabolic process biological process from the curated GO Biological Process Annotations 2023 dataset.

short-chain fatty acid transport Gene Set

From GO Biological Process Annotations 2023

genes participating in the short-chain fatty acid transport biological process from the curated GO Biological Process Annotations 2023 dataset.

short-chain fatty acid metabolic process Gene Set

From GO Biological Process Annotations 2023

genes participating in the short-chain fatty acid metabolic process biological process from the curated GO Biological Process Annotations 2023 dataset.

negative regulation of short-term synaptic potentiation Gene Set

From GO Biological Process Annotations 2023

genes participating in the negative regulation of short-term synaptic potentiation biological process from the curated GO Biological Process Annotations 2023 dataset.

short-chain fatty acid transmembrane transport Gene Set

From GO Biological Process Annotations 2023

genes participating in the short-chain fatty acid transmembrane transport biological process from the curated GO Biological Process Annotations 2023 dataset.

short-chain fatty acid biosynthetic process Gene Set

From GO Biological Process Annotations 2023

genes participating in the short-chain fatty acid biosynthetic process biological process from the curated GO Biological Process Annotations 2023 dataset.

regulation of short-term synaptic potentiation Gene Set

From GO Biological Process Annotations 2023

genes participating in the regulation of short-term synaptic potentiation biological process from the curated GO Biological Process Annotations 2023 dataset.

short-chain fatty acid transmembrane transporter activity Gene Set

From GO Molecular Function Annotations 2023

genes performing the short-chain fatty acid transmembrane transporter activity molecular function from the curated GO Molecular Function Annotations 2023 dataset.

short-chain-acyl-CoA dehydrogenase activity Gene Set

From GO Molecular Function Annotations 2023

genes performing the short-chain-acyl-CoA dehydrogenase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset.

short-chain carboxylesterase activity Gene Set

From GO Molecular Function Annotations 2023

genes performing the short-chain carboxylesterase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset.

short tibia Gene Set

From MGI Mouse Phenotype Associations 2023

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

short humerus Gene Set

From MGI Mouse Phenotype Associations 2023

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

short radius Gene Set

From MGI Mouse Phenotype Associations 2023

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

short ulna Gene Set

From MGI Mouse Phenotype Associations 2023

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

short mandible Gene Set

From MGI Mouse Phenotype Associations 2023

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

short maxilla Gene Set

From MGI Mouse Phenotype Associations 2023

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

short zygomatic bone Gene Set

From MGI Mouse Phenotype Associations 2023

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

short ribs Gene Set

From MGI Mouse Phenotype Associations 2023

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

short femur Gene Set

From MGI Mouse Phenotype Associations 2023

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

short rostral-caudal axis Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the short rostral-caudal axis phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

short metacarpal bones Gene Set

From MGI Mouse Phenotype Associations 2023

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

short metatarsal bones Gene Set

From MGI Mouse Phenotype Associations 2023

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

short vertebral body Gene Set

From MGI Mouse Phenotype Associations 2023

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

short tail Gene Set

From MGI Mouse Phenotype Associations 2023

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

short premaxilla Gene Set

From MGI Mouse Phenotype Associations 2023

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

short Meckel's cartilage Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the short Meckel's cartilage phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

short lower incisors Gene Set

From MGI Mouse Phenotype Associations 2023

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

short upper incisors Gene Set

From MGI Mouse Phenotype Associations 2023

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

short nasal septum Gene Set

From MGI Mouse Phenotype Associations 2023

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

short vertebral column Gene Set

From MGI Mouse Phenotype Associations 2023

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

short snout Gene Set

From MGI Mouse Phenotype Associations 2023

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

short limbs Gene Set

From MGI Mouse Phenotype Associations 2023

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

short fibula Gene Set

From MGI Mouse Phenotype Associations 2023

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

short oviduct Gene Set

From MGI Mouse Phenotype Associations 2023

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

short photoreceptor outer segment Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the short photoreceptor outer segment phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

short vibrissae Gene Set

From MGI Mouse Phenotype Associations 2023

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

short sternum Gene Set

From MGI Mouse Phenotype Associations 2023

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

short photoreceptor inner segment Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the short photoreceptor inner segment phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

short malleus Gene Set

From MGI Mouse Phenotype Associations 2023

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

short stride length Gene Set

From MGI Mouse Phenotype Associations 2023

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

short frontal bone Gene Set

From MGI Mouse Phenotype Associations 2023

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

short incisors Gene Set

From MGI Mouse Phenotype Associations 2023

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

short hair Gene Set

From MGI Mouse Phenotype Associations 2023

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

short ears Gene Set

From MGI Mouse Phenotype Associations 2023

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

short nasal bone Gene Set

From MGI Mouse Phenotype Associations 2023

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

short scapula Gene Set

From MGI Mouse Phenotype Associations 2023

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

short lumbar vertebrae Gene Set

From MGI Mouse Phenotype Associations 2023

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

short face Gene Set

From MGI Mouse Phenotype Associations 2023

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

short basicranium Gene Set

From MGI Mouse Phenotype Associations 2023

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

short trachea Gene Set

From MGI Mouse Phenotype Associations 2023

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

short endolymphatic duct Gene Set

From MGI Mouse Phenotype Associations 2023

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

short cochlear outer hair cells Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the short cochlear outer hair cells phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

short estrous cycle Gene Set

From MGI Mouse Phenotype Associations 2023

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

short diestrus Gene Set

From MGI Mouse Phenotype Associations 2023

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

short estrus Gene Set

From MGI Mouse Phenotype Associations 2023

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

abnormal incus short process morphology Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the abnormal incus short process morphology phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

short inner hair cell stereocilia Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the short inner hair cell stereocilia phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

short sperm flagellum Gene Set

From MGI Mouse Phenotype Associations 2023

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

short nails Gene Set

From MGI Mouse Phenotype Associations 2023

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

short excitatory postsynaptic current decay time Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the short excitatory postsynaptic current decay time phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

short outer hair cell stereocilia Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the short outer hair cell stereocilia phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

short zygomatic arch Gene Set

From MGI Mouse Phenotype Associations 2023

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

short facial bone Gene Set

From MGI Mouse Phenotype Associations 2023

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

short scala media Gene Set

From MGI Mouse Phenotype Associations 2023

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

short soft palate Gene Set

From MGI Mouse Phenotype Associations 2023

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

short ureter Gene Set

From MGI Mouse Phenotype Associations 2023

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

short proestrus Gene Set

From MGI Mouse Phenotype Associations 2023

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

short styloid process Gene Set

From MGI Mouse Phenotype Associations 2023

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

short cochlear hair cell stereocilia Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the short cochlear hair cell stereocilia phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

short tongue Gene Set

From MGI Mouse Phenotype Associations 2023

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

short neck Gene Set

From MGI Mouse Phenotype Associations 2023

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

short perineum Gene Set

From MGI Mouse Phenotype Associations 2023

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

absent incus short process Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the absent incus short process phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

abnormal short-term spatial reference memory Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the abnormal short-term spatial reference memory phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

short philtrum Gene Set

From MGI Mouse Phenotype Associations 2023

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

short malleus manubrium Gene Set

From MGI Mouse Phenotype Associations 2023

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

short umbilical cord Gene Set

From MGI Mouse Phenotype Associations 2023

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

short Tomes' process Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the short Tomes' process phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

short gestation period Gene Set

From MGI Mouse Phenotype Associations 2023

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

short uterine horn Gene Set

From MGI Mouse Phenotype Associations 2023

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

short femur neck Gene Set

From MGI Mouse Phenotype Associations 2023

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

short chin Gene Set

From MGI Mouse Phenotype Associations 2023

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

abnormal short-term object recognition memory Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the abnormal short-term object recognition memory phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

short ilium Gene Set

From MGI Mouse Phenotype Associations 2023

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

short temporal bone squamous part Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the short temporal bone squamous part phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

short tooth root Gene Set

From MGI Mouse Phenotype Associations 2023

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

short nasal bridge Gene Set

From MGI Mouse Phenotype Associations 2023

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

short vestibular hair cell stereocilia Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the short vestibular hair cell stereocilia phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

short metestrus Gene Set

From MGI Mouse Phenotype Associations 2023

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

short forehead Gene Set

From MGI Mouse Phenotype Associations 2023

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

short presphenoid bone Gene Set

From MGI Mouse Phenotype Associations 2023

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

short kidney papilla Gene Set

From MGI Mouse Phenotype Associations 2023

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

short mandibular coronoid process Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the short mandibular coronoid process phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

short excitatory postsynaptic current rise time Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the short excitatory postsynaptic current rise time phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

short parietal bone Gene Set

From MGI Mouse Phenotype Associations 2023

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

short tibia Gene Set

From IMPC Knockout Mouse Phenotypes

gene knockouts causing the short tibia phenotype in mic from the IMPC Knockout Mouse Phenotypes dataset.

Human - Tonsil - L2 - Short lived IgM+ PC Gene Set

From HuBMAP Azimuth Cell Type Annotations

genes associated with the Human - Tonsil - L2 - Short lived IgM+ PC cell type from the HuBMAP Azimuth Cell Type Annotations dataset.

Short Loop Descending Limb cell_Kidney_Mouse Gene Set

From CellMarker Gene-Cell Type Associations

genes associated with the Short Loop Descending Limb cell_Kidney_Mouse cell type from the CellMarker Gene-Cell Type Associations dataset.

Short-lived effector cell (SLEC)_Undefined_Human Gene Set

From CellMarker Gene-Cell Type Associations

genes associated with the Short-lived effector cell (SLEC)_Undefined_Human cell type from the CellMarker Gene-Cell Type Associations dataset.

Mitochondrial short-chain enoyl-CoA hydratase deficiency 1 Gene Set

From Reactome Pathways 2024

proteins participating in the Mitochondrial short-chain enoyl-CoA hydratase deficiency 1 pathway from the Reactome Pathways 2024 dataset.

regulation of short-term neuronal synaptic plasticity Gene Set

From GO Biological Process Annotations 2025

genes participating in the regulation of short-term neuronal synaptic plasticity biological process from the curated GO Biological Process Annotations 2025 dataset.

short-term memory Gene Set

From GO Biological Process Annotations 2025

genes participating in the short-term memory biological process from the curated GO Biological Process Annotations 2025 dataset.

short-term synaptic potentiation Gene Set

From GO Biological Process Annotations 2025

genes participating in the short-term synaptic potentiation biological process from the curated GO Biological Process Annotations 2025 dataset.

short-chain fatty acid catabolic process Gene Set

From GO Biological Process Annotations 2025

genes participating in the short-chain fatty acid catabolic process biological process from the curated GO Biological Process Annotations 2025 dataset.

short-chain fatty acid transport Gene Set

From GO Biological Process Annotations 2025

genes participating in the short-chain fatty acid transport biological process from the curated GO Biological Process Annotations 2025 dataset.

short-chain fatty acid metabolic process Gene Set

From GO Biological Process Annotations 2025

genes participating in the short-chain fatty acid metabolic process biological process from the curated GO Biological Process Annotations 2025 dataset.

negative regulation of short-term synaptic potentiation Gene Set

From GO Biological Process Annotations 2025

genes participating in the negative regulation of short-term synaptic potentiation biological process from the curated GO Biological Process Annotations 2025 dataset.

short-chain fatty acid transmembrane transport Gene Set

From GO Biological Process Annotations 2025

genes participating in the short-chain fatty acid transmembrane transport biological process from the curated GO Biological Process Annotations 2025 dataset.

short-chain fatty acid biosynthetic process Gene Set

From GO Biological Process Annotations 2025

genes participating in the short-chain fatty acid biosynthetic process biological process from the curated GO Biological Process Annotations 2025 dataset.

regulation of short-term synaptic potentiation Gene Set

From GO Biological Process Annotations 2025

genes participating in the regulation of short-term synaptic potentiation biological process from the curated GO Biological Process Annotations 2025 dataset.

short-chain fatty acyl-CoA dehydrogenase activity Gene Set

From GO Molecular Function Annotations 2025

genes performing the short-chain fatty acyl-CoA dehydrogenase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.

short-chain fatty acid transmembrane transporter activity Gene Set

From GO Molecular Function Annotations 2025

genes performing the short-chain fatty acid transmembrane transporter activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.

short-chain 2-methyl fatty acyl-CoA dehydrogenase activity Gene Set

From GO Molecular Function Annotations 2025

genes performing the short-chain 2-methyl fatty acyl-CoA dehydrogenase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.

short-chain carboxylesterase activity Gene Set

From GO Molecular Function Annotations 2025

genes performing the short-chain carboxylesterase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.

short-chain fatty acyl-CoA hydrolase activity Gene Set

From GO Molecular Function Annotations 2025

genes performing the short-chain fatty acyl-CoA hydrolase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.

short-chain fatty acid-CoA ligase activity Gene Set

From GO Molecular Function Annotations 2025

genes performing the short-chain fatty acid-CoA ligase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.

short-rib thoracic dysplasia 9 with or without polydactyly Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores 2025

genes involed in the disease short-rib thoracic dysplasia 9 with or without polydactyly from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.

Short chain acyl-CoA dehydrogenase deficiency Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores 2025

genes involed in the disease Short chain acyl-CoA dehydrogenase deficiency from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.

microcephaly, short stature, and limb abnormalities Gene Set

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

genes co-occuring with the disease microcephaly, short stature, and limb abnormalities in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

short-rib thoracic dysplasia 9 with or without polydactyly Gene Set

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

genes co-occuring with the disease short-rib thoracic dysplasia 9 with or without polydactyly in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

short-rib thoracic dysplasia 6 with or without polydactyly Gene Set

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

genes co-occuring with the disease short-rib thoracic dysplasia 6 with or without polydactyly in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Short chain acyl-CoA dehydrogenase deficiency Gene Set

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

genes co-occuring with the disease Short chain acyl-CoA dehydrogenase deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

short-rib thoracic dysplasia 10 with or without polydactyly Gene Set

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

genes co-occuring with the disease short-rib thoracic dysplasia 10 with or without polydactyly in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Intellectual developmental disorder with short stature and behavioral abnormalities Gene Set

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

genes co-occuring with the disease Intellectual developmental disorder with short stature and behavioral abnormalities in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies Gene Set

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

genes co-occuring with the disease Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Short stature, hearing loss, retinitis pigmentosa, and distinctive facies Gene Set

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

genes co-occuring with the disease Short stature, hearing loss, retinitis pigmentosa, and distinctive facies in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature Gene Set

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

genes co-occuring with the disease Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

short-rib thoracic dysplasia 14 with polydactyly Gene Set

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

genes co-occuring with the disease short-rib thoracic dysplasia 14 with polydactyly in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Spondylometaepiphyseal dysplasia, short limb-hand type Gene Set

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

genes co-occuring with the disease Spondylometaepiphyseal dysplasia, short limb-hand type in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

short-rib thoracic dysplasia 8 with or without polydactyly Gene Set

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

genes co-occuring with the disease short-rib thoracic dysplasia 8 with or without polydactyly in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

SHOX-related short stature Gene Set

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

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

short-rib thoracic dysplasia 11 with or without polydactyly Gene Set

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

genes co-occuring with the disease short-rib thoracic dysplasia 11 with or without polydactyly in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

short-rib thoracic dysplasia 13 with or without polydactyly Gene Set

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

genes co-occuring with the disease short-rib thoracic dysplasia 13 with or without polydactyly in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

short-rib thoracic dysplasia 7 with or without polydactyly Gene Set

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

genes co-occuring with the disease short-rib thoracic dysplasia 7 with or without polydactyly in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

short-chain collagen trimer Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores 2025

proteins localized to the short-chain collagen trimer cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.

short-chain collagen trimer Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025

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

Lethal short-limb skeletal dysplasia Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Lethal short-limb skeletal dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Short stature Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Short stature phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Short-rib thoracic dysplasia Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Short-rib thoracic dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Short stature due to growth hormone secretagogue receptor deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Short stature due to growth hormone secretagogue receptor deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Short stature due to partial GHR deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Short stature due to partial GHR deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

SHOX-related short stature Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the SHOX-related short stature phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Short stature and advanced bone age Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Short stature and advanced bone age phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Short stature due to growth hormone qualitative anomaly Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Short stature due to growth hormone qualitative anomaly phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Short fetal femur length Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Short fetal femur length phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Short stature due to primary acid-labile subunit deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Short stature due to primary acid-labile subunit deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Proportionate short stature Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Proportionate short stature phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Short ribs Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Short ribs phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Short telomere length Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Short telomere length phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Short stature and microcephaly Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Short stature and microcephaly phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Short 5th finger Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Short 5th finger phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

First year height change in growth hormone-treated short stature Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the First year height change in growth hormone-treated short stature phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

LDL cholesterol levels x short total sleep time interaction (2df test) Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the LDL cholesterol levels x short total sleep time interaction (2df test) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

HDL cholesterol levels x short total sleep time interaction (2df test) Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the HDL cholesterol levels x short total sleep time interaction (2df test) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Triglyceride levels x short total sleep time interaction (2df test) Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Triglyceride levels x short total sleep time interaction (2df test) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Triglyceride levels x short total sleep time interaction (1df test) Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Triglyceride levels x short total sleep time interaction (1df test) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

HDL cholesterol levels x short total sleep time interaction (1df test) Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the HDL cholesterol levels x short total sleep time interaction (1df test) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

LDL cholesterol levels x short total sleep time interaction (1df test) Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the LDL cholesterol levels x short total sleep time interaction (1df test) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Short-term memory (visuospatial task) Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Short-term memory (visuospatial task) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Short-term memory (digit-span task) Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Short-term memory (digit-span task) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Sleep duration (short sleep) Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Sleep duration (short sleep) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Hypertension risk in short sleep duration Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Hypertension risk in short sleep duration phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Baseline cortisol levels in response to low dose short synacthen test in corticosteroid treated asthma Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Baseline cortisol levels in response to low dose short synacthen test in corticosteroid treated asthma phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Peak cortisol response to low dose short synacthen test in corticosteroid treated asthma Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Peak cortisol response to low dose short synacthen test in corticosteroid treated asthma phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Fasting glucose change (short-term) Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Fasting glucose change (short-term) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 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.

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.

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.

C-like syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 Gene 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.

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.

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.

3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Weaver syndrome Gene 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.

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.

Weill-Marchesani-like syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Weill-Marchesani-like syndrome 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.

Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Autoimmune lymphoproliferative syndrome, type 2 Gene 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.

Nijmegen breakage syndrome-like disorder Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Nijmegen breakage syndrome-like disorder phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Ehlers-Danlos-like syndrome due to tenascin-X deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Ehlers-Danlos-like syndrome due to tenascin-X deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Brugada syndrome 6 Gene 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.

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.

Pitt-Hopkins-like syndrome 2 Gene Set

From ClinVar Gene-Phenotype Associations

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

Pitt-Hopkins-like syndrome 1 Gene Set

From ClinVar Gene-Phenotype Associations

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

Lynch syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Lynch syndrome 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.

Townes-Brocks-branchiootorenal-like syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

SeSAME syndrome Gene 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.