Name

ECTD5 Gene

Ectodermal dysplasia 5, hair/nail type

ECTD7 Gene

Ectodermal dysplasia 7, hair/nail type

ECTD6 Gene

Ectodermal dysplasia 6, hair/nail type

ECTD8 Gene

Ectodermal dysplasia 8, hair/tooth/nail type

EDSS2 Gene

Ectodermal dysplasia-syndactyly syndrome 2

EEC2 Gene

ectrodactyly, ectodermal dysplasia and cleft lip/palate syndrome 2

EEC1 Gene

ectrodactyly, ectodermal dysplasia and cleft lip/palate syndrome 1

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]

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]

MRSS Gene

Mental retardation, X-linked, with short stature

ENC1 Gene

ectodermal-neural cortex 1 (with BTB domain)

This gene encodes a member of the kelch-related family of actin-binding proteins. The encoded protein plays a role in the oxidative stress response as a regulator of the transcription factor Nrf2, and expression of this gene may play a role in malignant transformation. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Feb 2012]

STQTL8 Gene

stature quantitative trait locus 8

STQTL4 Gene

stature quantitative trait locus 4

STQTL5 Gene

stature quantitative trait locus 5

STQTL2 Gene

stature quantitative trait locus 2

STQTL3 Gene

stature quantitative trait locus 3

STQTL6 Gene

stature quantitative trait locus 6

STQTL7 Gene

stature quantitative trait locus 7

STQTL23 Gene

Stature QTL 23

STQTL20 Gene

Stature QTL 20

STQTL17 Gene

Stature QTL 17

STQTL15 Gene

Stature QTL 15

STQTL13 Gene

Stature QTL 13

STQTL16 Gene

Stature QTL 16

STQTL14 Gene

Stature QTL 14

STQTL12 Gene

Stature QTL 12

STQTL10 Gene

Stature QTL 10

STQTL11 Gene

Stature QTL 11

STQTL18 Gene

Stature QTL 18

STQTL19 Gene

Stature QTL 19

STQTL24 Gene

Stature QTL 24

STQTL21 Gene

Stature QTL 21

STQTL22 Gene

Stature QTL 22

BHD Gene

Beukes familial hip dysplasia

OS4 Gene

Osteoarthritis, generalized, without dysplasia, susceptibility to

ASDP Gene

anal sphincter dysplasia

ACD Gene

adrenocortical dysplasia homolog (mouse)

This gene encodes a protein that is involved in telomere function. This protein is one of six core proteins in the telosome/shelterin telomeric complex, which functions to maintain telomere length and to protect telomere ends. Through its interaction with other components, this protein plays a key role in the assembly and stabilization of this complex, and it mediates the access of telomerase to the telomere. Multiple transcript variants encoding different isoforms have been found for this gene. This gene, which is also referred to as TPP1, is distinct from the unrelated TPP1 gene on chromosome 11, which encodes tripeptidyl-peptidase I. [provided by RefSeq, Jul 2008]

SPDT Gene

Spondyloepiphyseal dysplasia tarda, autosomal dominant

ACTD Gene

Acetabular dysplasia

ARVD4 Gene

arrhythmogenic right ventricular dysplasia 4

ARVD6 Gene

arrhythmogenic right ventricular dysplasia 6

ARVD3 Gene

arrhythmogenic right ventricular dysplasia 3

MMEDF Gene

Macrocephaly with multiple epiphyseal dysplasia and distinctive facies

DDH2 Gene

Developmental dysplasia of the hip 2

NDIC Gene

Nail dysplasia, isolated congenital

PRD Gene

primary retinal dysplasia

ACRPV Gene

Acropectorovertebral dysplasia (F syndrome)

ATD Gene

asphixiating thoracic dystrophy (chondroectodermal dysplasia-like syndrome)

ODPF Gene

Osseous dysplasia, digital, with facial pigmentary defects and multiple frenula

MRSD Gene

mental retardation-skeletal dysplasia

TKCR Gene

torticollis, keloids, cryptorchidism and renal dysplasia

MMDK Gene

Mesomelic dysplasia, Kantaputra type

OTDD Gene

Otodental dysplasia chromosome deletion syndrome

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]

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

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

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

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.

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.

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.

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.

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.

Brain Anomalies, Retardation, Ectodermal Dysplasia, Skeletal Malformations, Hirschsprung Disease, Ear-Eye Anomalies, Cleft Palate-Cryptorchidism, And Kidney Dysplasia-Hypoplasia Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Brain Anomalies, Retardation, Ectodermal Dysplasia, Skeletal Malformations, Hirschsprung Disease, Ear-Eye Anomalies, Cleft Palate-Cryptorchidism, And Kidney Dysplasia-Hypoplasia in GWAS and other genetic association datasets from the DisGeNET 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.

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.

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.

?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.

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 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.

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.

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.

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.

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.

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.

Rapp-Hodgkin ectodermal dysplasia syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Rapp-Hodgkin ectodermal dysplasia syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hay-Wells syndrome of ectodermal dysplasia Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hay-Wells syndrome of ectodermal dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Ectodermal dysplasia skin fragility syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Ectodermal dysplasia-syndactyly syndrome 1 Gene Set

From ClinVar Gene-Phenotype Associations

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

Hidrotic ectodermal dysplasia syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

ECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME 2 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease ECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME 2 from the curated CTD Gene-Disease Associations dataset.

Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 from the curated CTD Gene-Disease Associations dataset.

Ectodermal dysplasia/ skin fragility syndrome Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Ectodermal dysplasia/ skin fragility syndrome from the curated CTD Gene-Disease Associations dataset.

Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/Palate Syndrome 3 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/Palate Syndrome 3 from the curated CTD Gene-Disease Associations dataset.

ECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME 1 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease ECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME 1 from the curated CTD Gene-Disease Associations dataset.

abnormalities, multiple; ectodermal dysplasia; heart defects, congenital; mental retardation; syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease abnormalities, multiple; ectodermal dysplasia; heart defects, congenital; mental retardation; syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

cleft lip; cleft palate; ectodermal dysplasia; syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease cleft lip; cleft palate; ectodermal dysplasia; syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

cleft lip/palate-ectodermal dysplasia syndrome Gene Set

From OMIM Gene-Disease Associations

genes associated with the cleft lip/palate-ectodermal dysplasia syndrome phenotype from the curated OMIM Gene-Disease Associations dataset.

ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 Gene Set

From OMIM Gene-Disease Associations

genes associated with the ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 phenotype from the curated OMIM Gene-Disease Associations dataset.

ectodermal dysplasia-syndactyly syndrome 1 Gene Set

From OMIM Gene-Disease Associations

genes associated with the ectodermal dysplasia-syndactyly syndrome 1 phenotype from the curated OMIM Gene-Disease Associations dataset.

ectodermal dysplasia/skin fragility syndrome Gene Set

From OMIM Gene-Disease Associations

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

ectodermal dysplasia-syndactyly syndrome 2 Gene Set

From OMIM Gene-Disease Associations

genes associated with the ectodermal dysplasia-syndactyly syndrome 2 phenotype from the curated OMIM Gene-Disease Associations dataset.

Autosomal Dominant Hypohidrotic Ectodermal Dysplasia Syndrome (Disorder) Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Autosomal Dominant Hypohidrotic Ectodermal Dysplasia Syndrome (Disorder) in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome Gene Set

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

genes co-occuring with the disease Ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Cleft lip-palate-ectodermal dysplasia syndrome Gene Set

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

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

ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 Gene Set

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

genes co-occuring with the disease ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 1 Gene Set

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

genes co-occuring with the disease ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 1 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Hidrotic ectodermal dysplasia syndrome Gene Set

From ClinVar Gene-Phenotype Associations 2025

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

Autosomal recessive hypohidrotic ectodermal dysplasia syndrome Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Autosomal recessive hypohidrotic ectodermal dysplasia syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Cleft lip/palate-ectodermal dysplasia syndrome Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Cleft lip/palate-ectodermal dysplasia syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Ectodermal dysplasia-syndactyly syndrome Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Ectodermal dysplasia-syndactyly syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 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 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 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.

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.

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.

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.

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 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.

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.

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.

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.

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.

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 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 stature Gene Set

From OMIM Gene-Disease Associations

genes associated with the short stature 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.

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.

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 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 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.

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 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.

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 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.

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.

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.

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 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.

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.

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.

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 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.

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.

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.

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.

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 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 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 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 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.

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.

spondyloepiphyseal dysplasia tall stature and precocious osteoarthritis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease spondyloepiphyseal dysplasia tall stature and precocious osteoarthritis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations 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.

Ectodermal dysplasia, anhidrotic, with immunodeficiency, osteopetrosis, and lymphedema Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Ectodermal dysplasia, anhidrotic, with immunodeficiency, osteopetrosis, and lymphedema phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hypohidrotic X-linked ectodermal dysplasia Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hypohidrotic X-linked ectodermal dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hypohidrotic ectodermal dysplasia with immune deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hypohidrotic ectodermal dysplasia with immune deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Anhidrotic ectodermal dysplasia with immune deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Anhidrotic ectodermal dysplasia with immune deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Ectodermal dysplasia, anhidrotic, with T-cell immunodeficiency, autosomal dominant Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Ectodermal dysplasia, anhidrotic, with T-cell immunodeficiency, autosomal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Corneal intraepithelial dyskeratosis and ectodermal dysplasia Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Corneal intraepithelial dyskeratosis and ectodermal dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Ectodermal Dysplasia 3, Anhidrotic Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Ectodermal Dysplasia 3, Anhidrotic from the curated CTD Gene-Disease Associations dataset.

Ectodermal Dysplasia, Anhidrotic, with Immunodeficiency, Osteopetrosis, and Lymphedema Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Ectodermal Dysplasia, Anhidrotic, with Immunodeficiency, Osteopetrosis, and Lymphedema from the curated CTD Gene-Disease Associations dataset.

Ectodermal Dysplasia, Anhidrotic, With T-Cell Immunodeficiency, Autosomal Dominant Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Ectodermal Dysplasia, Anhidrotic, With T-Cell Immunodeficiency, Autosomal Dominant from the curated CTD Gene-Disease Associations dataset.

Ectodermal Dysplasia Gene Set

From CTD Gene-Disease Associations

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

Immunodeficiency without anhidrotic ectodermal dysplasia Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Immunodeficiency without anhidrotic ectodermal dysplasia from the curated CTD Gene-Disease Associations dataset.

Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive from the curated CTD Gene-Disease Associations dataset.

ECTODERMAL DYSPLASIA 4, HAIR/NAIL TYPE Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease ECTODERMAL DYSPLASIA 4, HAIR/NAIL TYPE from the curated CTD Gene-Disease Associations dataset.

Ectodermal dysplasia, ectrodactyly, and macular dystrophy Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Ectodermal dysplasia, ectrodactyly, and macular dystrophy from the curated CTD Gene-Disease Associations dataset.

Ectodermal Dysplasia 1, Anhidrotic Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Ectodermal Dysplasia 1, Anhidrotic from the curated CTD Gene-Disease Associations dataset.

Ectodermal dysplasia, hypohidrotic, with immune deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Ectodermal dysplasia, hypohidrotic, with immune deficiency from the curated CTD Gene-Disease Associations dataset.

hypohidrotic ectodermal dysplasia Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores

genes involed in the disease hypohidrotic ectodermal dysplasia from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

hypohidrotic ectodermal dysplasia Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

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

ectodermal dysplasia; esophageal neoplasms; neoplasms, squamous cell; oesophageal neoplasm Gene Set

From GAD Gene-Disease Associations

genes associated with the disease ectodermal dysplasia; esophageal neoplasms; neoplasms, squamous cell; oesophageal neoplasm in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

autosomal dominant anhidrotic ectodermal dysplasia and t cell immunodeficiency Gene Set

From GAD Gene-Disease Associations

genes associated with the disease autosomal dominant anhidrotic ectodermal dysplasia and t cell immunodeficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

ectodermal dysplasia Gene Set

From HPO Gene-Disease Associations

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

hypohidrotic ectodermal dysplasia Gene Set

From HPO Gene-Disease Associations

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

hair-nail ectodermal dysplasia Gene Set

From HPO Gene-Disease Associations

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

Ectodermal Dysplasia Gene Set

From HuGE Navigator Gene-Phenotype Associations

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

?corneal intraepithelial dyskeratosis and ectodermal dysplasia Gene Set

From OMIM Gene-Disease Associations

genes associated with the ?corneal intraepithelial dyskeratosis and ectodermal dysplasia phenotype from the curated OMIM Gene-Disease Associations dataset.

ectodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the ectodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

ectodermal dysplasia 11b, hypohidrotic/hair/tooth type, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the ectodermal dysplasia 11b, hypohidrotic/hair/tooth type, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

ectodermal dysplasia 6, hair/nail type Gene Set

From OMIM Gene-Disease Associations

genes associated with the ectodermal dysplasia 6, hair/nail type phenotype from the curated OMIM Gene-Disease Associations dataset.

ectodermal dysplasia, ectrodactyly, and macular dystrophy Gene Set

From OMIM Gene-Disease Associations

genes associated with the ectodermal dysplasia, ectrodactyly, and macular dystrophy phenotype from the curated OMIM Gene-Disease Associations dataset.

ectodermal dysplasia 3, witkop type Gene Set

From OMIM Gene-Disease Associations

genes associated with the ectodermal dysplasia 3, witkop type phenotype from the curated OMIM Gene-Disease Associations dataset.

ectodermal dysplasia 7, hair/nail type Gene Set

From OMIM Gene-Disease Associations

genes associated with the ectodermal dysplasia 7, hair/nail type phenotype from the curated OMIM Gene-Disease Associations dataset.

ectodermal dysplasia, anhidrotic, with t-cell immunodeficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the ectodermal dysplasia, anhidrotic, with t-cell immunodeficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

ectodermal dysplasia 5, hair/nail type Gene Set

From OMIM Gene-Disease Associations

genes associated with the ectodermal dysplasia 5, hair/nail type phenotype from the curated OMIM Gene-Disease Associations dataset.

ectodermal dysplasia 1, hypohidrotic, x-linked Gene Set

From OMIM Gene-Disease Associations

genes associated with the ectodermal dysplasia 1, hypohidrotic, x-linked phenotype from the curated OMIM Gene-Disease Associations dataset.

ectodermal dysplasia 4, hair/nail type Gene Set

From OMIM Gene-Disease Associations

genes associated with the ectodermal dysplasia 4, hair/nail type phenotype from the curated OMIM Gene-Disease Associations dataset.

ectodermal dysplasia 11a, hypohidrotic/hair/tooth type, autosomal dominant Gene Set

From OMIM Gene-Disease Associations

genes associated with the ectodermal dysplasia 11a, hypohidrotic/hair/tooth type, autosomal dominant phenotype from the curated OMIM Gene-Disease Associations dataset.

ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

ectodermal dysplasia 9, hair/nail type Gene Set

From OMIM Gene-Disease Associations

genes associated with the ectodermal dysplasia 9, hair/nail type phenotype from the curated OMIM Gene-Disease Associations dataset.

ectodermal dysplasia 8, hair/tooth/nail type Gene Set

From OMIM Gene-Disease Associations

genes associated with the ectodermal dysplasia 8, hair/tooth/nail type phenotype from the curated OMIM Gene-Disease Associations dataset.

ectodermal dysplasia, hypohidrotic, with immune deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the ectodermal dysplasia, hypohidrotic, with immune deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

ectodermal dysplasia 10a, hypohidrotic/hair/nail type, autosomal dominant Gene Set

From OMIM Gene-Disease Associations

genes associated with the ectodermal dysplasia 10a, hypohidrotic/hair/nail type, autosomal dominant phenotype from the curated OMIM Gene-Disease Associations dataset.

ectodermal dysplasia 2, clouston type Gene Set

From OMIM Gene-Disease Associations

genes associated with the ectodermal dysplasia 2, clouston type phenotype from the curated OMIM Gene-Disease Associations dataset.

Ectodermal Dysplasia Gene Set

From DisGeNET Gene-Disease Associations

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

Hidrotic Ectodermal Dysplasia Gene Set

From DisGeNET Gene-Disease Associations

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

Hyper-Igm Immunodeficiency, X-Linked, With Ectodermal Dysplasia, Hypohidrotic Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Hyper-Igm Immunodeficiency, X-Linked, With Ectodermal Dysplasia, Hypohidrotic in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Hair-Nail Ectodermal Dysplasia Gene Set

From DisGeNET Gene-Disease Associations

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

Congenital Ectodermal Dysplasia Of Face Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Congenital Ectodermal Dysplasia Of Face in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

IKBKG deficiency causes anhidrotic ectodermal dysplasia with immunodeficiency (EDA-ID) (via TLR) Gene Set

From Reactome Pathways 2024

proteins participating in the IKBKG deficiency causes anhidrotic ectodermal dysplasia with immunodeficiency (EDA-ID) (via TLR) pathway from the Reactome Pathways 2024 dataset.

Hypohidrotic ectodermal dysplasia Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores 2025

genes involed in the disease Hypohidrotic ectodermal dysplasia from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.

Ectodermal dysplasia Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores 2025

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

Ectodermal dysplasia and immune deficiency Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores 2025

genes involed in the disease Ectodermal dysplasia and immune deficiency from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.

Ectodermal dysplasia Gene Set

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

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

Hypohidrotic ectodermal dysplasia Gene Set

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

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

Ectodermal dysplasia 1 Gene Set

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

genes co-occuring with the disease Ectodermal dysplasia 1 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Pure hair and nail ectodermal dysplasia Gene Set

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

genes co-occuring with the disease Pure hair and nail ectodermal dysplasia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Ectodermal dysplasia and immune deficiency Gene Set

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

genes co-occuring with the disease Ectodermal dysplasia and immune deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Ectodermal dysplasia 9 Gene Set

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

genes co-occuring with the disease Ectodermal dysplasia 9 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Ectodermal dysplasia and immunodeficiency 1 Gene Set

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

genes co-occuring with the disease Ectodermal dysplasia and immunodeficiency 1 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Ectodermal dysplasia and immunodeficiency 2 Gene Set

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

genes co-occuring with the disease Ectodermal dysplasia and immunodeficiency 2 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Ectodermal dysplasia 10B Gene Set

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

genes co-occuring with the disease Ectodermal dysplasia 10B in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Ectodermal dysplasia 10A Gene Set

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

genes co-occuring with the disease Ectodermal dysplasia 10A in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Ectodermal dysplasia 11B Gene Set

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

genes co-occuring with the disease Ectodermal dysplasia 11B in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Ectodermal dysplasia 11A Gene Set

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

genes co-occuring with the disease Ectodermal dysplasia 11A in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Ectodermal dysplasia 4 Gene Set

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

genes co-occuring with the disease Ectodermal dysplasia 4 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Ectodermal dysplasia 13 Gene Set

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

genes co-occuring with the disease Ectodermal dysplasia 13 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Ectodermal dysplasia 14 Gene Set

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

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

Ectodermal dysplasia 5 Gene Set

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

genes co-occuring with the disease Ectodermal dysplasia 5 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Ectodermal dysplasia 6 Gene Set

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

genes co-occuring with the disease Ectodermal dysplasia 6 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Ectodermal dysplasia 7 Gene Set

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

genes co-occuring with the disease Ectodermal dysplasia 7 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Ectodermal dysplasia 12 Gene Set

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

genes co-occuring with the disease Ectodermal dysplasia 12 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Ectodermal dysplasia Gene Set

From ClinVar Gene-Phenotype Associations 2025

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

Ectodermal dysplasia 10a Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Ectodermal dysplasia 10a phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Hypohidrotic Ectodermal Dysplasia Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Hypohidrotic Ectodermal Dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Hypohidrotic X-linked ectodermal dysplasia Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Hypohidrotic X-linked ectodermal dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Anhidrotic ectodermal dysplasia Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Anhidrotic ectodermal dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Ectodermal dysplasia and immunodeficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Ectodermal dysplasia and immunodeficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Congenital heart defects and ectodermal dysplasia Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Congenital heart defects and ectodermal dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 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-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.

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.

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-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.

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-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-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-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.

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.

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-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-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.

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.

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.

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.

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-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-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-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.

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.

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.

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-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.

Camptodactyly, tall stature, and hearing loss syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Camptodactyly, tall stature, and hearing loss syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

camptodactyly-tall stature-scoliosis-hearing loss syndrome Gene Set

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

genes co-occuring with the disease camptodactyly-tall stature-scoliosis-hearing loss syndrome in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Camptodactyly-tall stature-scoliosis-hearing loss syndrome Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Camptodactyly-tall stature-scoliosis-hearing loss syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Tall stature-scoliosis-macrodactyly of the great toes syndrome Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Tall stature-scoliosis-macrodactyly of the great toes syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Tall stature-intellectual disability-renal anomalies syndrome Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Tall stature-intellectual disability-renal anomalies syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

ankyloblepharon-ectodermal defects-cleft lip/palate syndrome Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores 2025

genes involed in the disease ankyloblepharon-ectodermal defects-cleft lip/palate syndrome from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.

ankyloblepharon-ectodermal defects-cleft lip/palate syndrome Gene Set

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

genes co-occuring with the disease ankyloblepharon-ectodermal defects-cleft lip/palate syndrome in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

carcinoma, squamous cell; cervical dysplasia; cervical intraepithelial neoplasia; cervical neoplasm; papillomavirus infections; squamous cell carcinoma; tumor virus infections; uterine cervical dysplasia; uterine cervical neoplasms Gene Set

From GAD Gene-Disease Associations

genes associated with the disease carcinoma, squamous cell; cervical dysplasia; cervical intraepithelial neoplasia; cervical neoplasm; papillomavirus infections; squamous cell carcinoma; tumor virus infections; uterine cervical dysplasia; uterine cervical neoplasms 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.

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.

heritability of stature Gene Set

From GAD Gene-Disease Associations

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

birth height growth to adolescence and adult stature Gene Set

From GAD Gene-Disease Associations

genes associated with the disease birth height growth to adolescence and adult stature in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

stature among african pygmies Gene Set

From GAD Gene-Disease Associations

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

testosterone; bone density; stature Gene Set

From GAD Gene-Disease Associations

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

stature Gene Set

From GeneRIF Biological Term Annotations

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

disproportionate tall stature Gene Set

From HPO Gene-Disease Associations

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

tall stature Gene Set

From HPO Gene-Disease Associations

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

{stature qtl 2} Gene Set

From OMIM Gene-Disease Associations

genes associated with the {stature qtl 2} phenotype from the curated OMIM Gene-Disease Associations dataset.

{stature qtl 17} Gene Set

From OMIM Gene-Disease Associations

genes associated with the {stature qtl 17} phenotype from the curated OMIM Gene-Disease Associations dataset.

{stature qtl 15} Gene Set

From OMIM Gene-Disease Associations

genes associated with the {stature qtl 15} phenotype from the curated OMIM Gene-Disease Associations dataset.

{stature qtl 13} Gene Set

From OMIM Gene-Disease Associations

genes associated with the {stature qtl 13} phenotype from the curated OMIM Gene-Disease Associations dataset.

{stature qtl 11} Gene Set

From OMIM Gene-Disease Associations

genes associated with the {stature qtl 11} phenotype from the curated OMIM Gene-Disease Associations dataset.

{stature qtl 3} Gene Set

From OMIM Gene-Disease Associations

genes associated with the {stature qtl 3} phenotype from the curated OMIM Gene-Disease Associations dataset.

{stature qtl 23} Gene Set

From OMIM Gene-Disease Associations

genes associated with the {stature qtl 23} phenotype from the curated OMIM Gene-Disease Associations dataset.

{stature qtl 21} Gene Set

From OMIM Gene-Disease Associations

genes associated with the {stature qtl 21} phenotype from the curated OMIM Gene-Disease Associations dataset.

{stature qtl 5} Gene Set

From OMIM Gene-Disease Associations

genes associated with the {stature qtl 5} phenotype from the curated OMIM Gene-Disease Associations dataset.

{stature qtl 7} Gene Set

From OMIM Gene-Disease Associations

genes associated with the {stature qtl 7} phenotype from the curated OMIM Gene-Disease Associations dataset.

{stature qtl 16} Gene Set

From OMIM Gene-Disease Associations

genes associated with the {stature qtl 16} phenotype from the curated OMIM Gene-Disease Associations dataset.

{stature qtl 14} Gene Set

From OMIM Gene-Disease Associations

genes associated with the {stature qtl 14} phenotype from the curated OMIM Gene-Disease Associations dataset.

{stature qtl 12} Gene Set

From OMIM Gene-Disease Associations

genes associated with the {stature qtl 12} phenotype from the curated OMIM Gene-Disease Associations dataset.

{stature qtl 19} Gene Set

From OMIM Gene-Disease Associations

genes associated with the {stature qtl 19} phenotype from the curated OMIM Gene-Disease Associations dataset.

{stature qtl 10} Gene Set

From OMIM Gene-Disease Associations

genes associated with the {stature qtl 10} phenotype from the curated OMIM Gene-Disease Associations dataset.

{stature qtl 18} Gene Set

From OMIM Gene-Disease Associations

genes associated with the {stature qtl 18} phenotype from the curated OMIM Gene-Disease Associations dataset.

{stature qtl 8} Gene Set

From OMIM Gene-Disease Associations

genes associated with the {stature qtl 8} phenotype from the curated OMIM Gene-Disease Associations dataset.

{stature qtl 22} Gene Set

From OMIM Gene-Disease Associations

genes associated with the {stature qtl 22} phenotype from the curated OMIM Gene-Disease Associations dataset.

{stature qtl 20} Gene Set

From OMIM Gene-Disease Associations

genes associated with the {stature qtl 20} phenotype from the curated OMIM Gene-Disease Associations dataset.

{stature qtl 4} Gene Set

From OMIM Gene-Disease Associations

genes associated with the {stature qtl 4} phenotype from the curated OMIM Gene-Disease Associations dataset.

{stature qtl 6} Gene Set

From OMIM Gene-Disease Associations

genes associated with the {stature qtl 6} phenotype from the curated OMIM Gene-Disease Associations dataset.

{stature qtl 24} Gene Set

From OMIM Gene-Disease Associations

genes associated with the {stature qtl 24} phenotype from the curated OMIM Gene-Disease Associations dataset.

Tall Stature Gene Set

From DisGeNET Gene-Phenotype Associations

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

Disproportionate Tall Stature Gene Set

From DisGeNET Gene-Phenotype Associations

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

Proportionate Tall Stature Gene Set

From DisGeNET Gene-Phenotype Associations

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

Disproportionate tall stature Gene Set

From ClinVar Gene-Phenotype Associations 2025

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

Tall stature Gene Set

From ClinVar Gene-Phenotype Associations 2025

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

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.

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 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.

short syndrome Gene Set

From OMIM Gene-Disease Associations

genes associated with the short 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.

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 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 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 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.

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 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.

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 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.

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.

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.

ectodermal Gene Set

From GeneRIF Biological Term Annotations

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

APECED - Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy_Thymic epithelial cell_GSE85 Gene Set

From GEO Signatures of Differentially Expressed Genes for Diseases

genes differentially expressed during APECED - Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy_Thymic epithelial cell_GSE85 disease perturbation from the GEO Signatures of Differentially Expressed Genes for Diseases dataset.

embryonic ectodermal digestive tract development Gene Set

From GO Biological Process Annotations 2015

genes participating in the embryonic ectodermal digestive tract development biological process from the curated GO Biological Process Annotations 2015 dataset.

ectodermal placode formation Gene Set

From GO Biological Process Annotations 2015

genes participating in the ectodermal placode formation biological process from the curated GO Biological Process Annotations 2015 dataset.

ectodermal cell differentiation Gene Set

From GO Biological Process Annotations 2015

genes participating in the ectodermal cell differentiation biological process from the curated GO Biological Process Annotations 2015 dataset.

regulation of ectodermal cell fate specification Gene Set

From GO Biological Process Annotations 2015

genes participating in the regulation of ectodermal cell fate specification biological process from the curated GO Biological Process Annotations 2015 dataset.

embryonic ectodermal digestive tract morphogenesis Gene Set

From GO Biological Process Annotations 2015

genes participating in the embryonic ectodermal digestive tract morphogenesis biological process from the curated GO Biological Process Annotations 2015 dataset.

negative regulation of ectodermal cell fate specification Gene Set

From GO Biological Process Annotations 2015

genes participating in the negative regulation of ectodermal cell fate specification biological process from the curated GO Biological Process Annotations 2015 dataset.

abnormal ventral ectodermal ridge morphology Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the abnormal ventral ectodermal ridge morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

thick apical ectodermal ridge Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the thick apical ectodermal ridge phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

absent apical ectodermal ridge Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the absent apical ectodermal ridge phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

thin apical ectodermal ridge Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the thin apical ectodermal ridge phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

decreased ventral ectodermal ridge size Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the decreased ventral ectodermal ridge size phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

abnormal apical ectodermal ridge morphology Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the abnormal apical ectodermal ridge morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Anhydrotic Ectodermal Dysplasias Gene Set

From DisGeNET Gene-Disease Associations

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

negative regulation of ectodermal cell fate specification Gene Set

From GO Biological Process Annotations 2023

genes participating in the negative regulation of ectodermal cell fate specification biological process from the curated GO Biological Process Annotations 2023 dataset.

ectodermal cell differentiation Gene Set

From GO Biological Process Annotations 2023

genes participating in the ectodermal cell differentiation biological process from the curated GO Biological Process Annotations 2023 dataset.

embryonic ectodermal digestive tract morphogenesis Gene Set

From GO Biological Process Annotations 2023

genes participating in the embryonic ectodermal digestive tract morphogenesis biological process from the curated GO Biological Process Annotations 2023 dataset.

regulation of ectodermal cell fate specification Gene Set

From GO Biological Process Annotations 2023

genes participating in the regulation of ectodermal cell fate specification biological process from the curated GO Biological Process Annotations 2023 dataset.

ectodermal digestive tract morphogenesis Gene Set

From GO Biological Process Annotations 2023

genes participating in the ectodermal digestive tract morphogenesis biological process from the curated GO Biological Process Annotations 2023 dataset.

embryonic ectodermal digestive tract development Gene Set

From GO Biological Process Annotations 2023

genes participating in the embryonic ectodermal digestive tract development biological process from the curated GO Biological Process Annotations 2023 dataset.

abnormal apical ectodermal ridge morphology Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the abnormal apical ectodermal ridge morphology phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

absent apical ectodermal ridge Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the absent apical ectodermal ridge phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

thin apical ectodermal ridge Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the thin apical ectodermal ridge phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

thick apical ectodermal ridge Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the thick apical ectodermal ridge phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

decreased ventral ectodermal ridge size Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the decreased ventral ectodermal ridge size phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

Extraembryonic ectodermal cell_Embryo_Mouse Gene Set

From CellMarker Gene-Cell Type Associations

genes associated with the Extraembryonic ectodermal cell_Embryo_Mouse cell type from the CellMarker Gene-Cell Type Associations dataset.

Extra-embryonic ectodermal cell_Extra-embryonic ectoderm_Mouse Gene Set

From CellMarker Gene-Cell Type Associations

genes associated with the Extra-embryonic ectodermal cell_Extra-embryonic ectoderm_Mouse cell type from the CellMarker Gene-Cell Type Associations dataset.

Ectodermal cell_Endoderm_Mouse Gene Set

From CellMarker Gene-Cell Type Associations

genes associated with the Ectodermal cell_Endoderm_Mouse cell type from the CellMarker Gene-Cell Type Associations dataset.

Ectodermal cell_Embryo_Human Gene Set

From CellMarker Gene-Cell Type Associations

genes associated with the Ectodermal cell_Embryo_Human cell type from the CellMarker Gene-Cell Type Associations dataset.

Apical ectodermal ridge cell_Limb bud_Human Gene Set

From CellMarker Gene-Cell Type Associations

genes associated with the Apical ectodermal ridge cell_Limb bud_Human cell type from the CellMarker Gene-Cell Type Associations dataset.

Ectodermal cell_Ectoderm_Mouse Gene Set

From CellMarker Gene-Cell Type Associations

genes associated with the Ectodermal cell_Ectoderm_Mouse cell type from the CellMarker Gene-Cell Type Associations dataset.

negative regulation of ectodermal cell fate specification Gene Set

From GO Biological Process Annotations 2025

genes participating in the negative regulation of ectodermal cell fate specification biological process from the curated GO Biological Process Annotations 2025 dataset.

ectodermal cell differentiation Gene Set

From GO Biological Process Annotations 2025

genes participating in the ectodermal cell differentiation biological process from the curated GO Biological Process Annotations 2025 dataset.

embryonic ectodermal digestive tract morphogenesis Gene Set

From GO Biological Process Annotations 2025

genes participating in the embryonic ectodermal digestive tract morphogenesis biological process from the curated GO Biological Process Annotations 2025 dataset.

regulation of ectodermal cell fate specification Gene Set

From GO Biological Process Annotations 2025

genes participating in the regulation of ectodermal cell fate specification biological process from the curated GO Biological Process Annotations 2025 dataset.

ectodermal digestive tract morphogenesis Gene Set

From GO Biological Process Annotations 2025

genes participating in the ectodermal digestive tract morphogenesis biological process from the curated GO Biological Process Annotations 2025 dataset.

embryonic ectodermal digestive tract development Gene Set

From GO Biological Process Annotations 2025

genes participating in the embryonic ectodermal digestive tract development biological process from the curated GO Biological Process Annotations 2025 dataset.

Neuro-ectodermal phenotype Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Neuro-ectodermal phenotype phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Bent bone dysplasia syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Autoimmune polyglandular syndrome type 1, with reversible metaphyseal dysplasia Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Autoimmune polyglandular syndrome type 1, with reversible metaphyseal dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cortical dysplasia-focal epilepsy syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cortical dysplasia-focal epilepsy syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cortical Dysplasia-Focal Epilepsy Syndrome Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Cortical Dysplasia-Focal Epilepsy Syndrome from the curated CTD Gene-Disease Associations dataset.

bronchopulmonary dysplasia; respiratory distress syndrome, neonatal Gene Set

From GAD Gene-Disease Associations

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

bronchopulmonary dysplasia; respiratory distress syndrome, newborn Gene Set

From GAD Gene-Disease Associations

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

bone neoplasms; fibrous dysplasia, polyostotic; ossification, heterotopic; osteoma; pseudohypoparathyroidism; skin neoplasms; syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease bone neoplasms; fibrous dysplasia, polyostotic; ossification, heterotopic; osteoma; pseudohypoparathyroidism; skin neoplasms; syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

autoimmune polyendocrinopathy syndrome , type i, with or without reversible metaphyseal dysplasia Gene Set

From OMIM Gene-Disease Associations

genes associated with the autoimmune polyendocrinopathy syndrome , type i, with or without reversible metaphyseal dysplasia phenotype from the curated OMIM Gene-Disease Associations dataset.

cortical dysplasia-focal epilepsy syndrome Gene Set

From OMIM Gene-Disease Associations

genes associated with the cortical dysplasia-focal epilepsy syndrome phenotype from the curated OMIM Gene-Disease Associations dataset.

otodental dysplasia chromsome deletion syndrome Gene Set

From OMIM Gene-Disease Associations

genes associated with the otodental dysplasia chromsome deletion syndrome phenotype from the curated OMIM Gene-Disease Associations dataset.

bent bone dysplasia syndrome Gene Set

From OMIM Gene-Disease Associations

genes associated with the bent bone dysplasia syndrome phenotype from the curated OMIM Gene-Disease Associations dataset.

Acute Myeloid Leukemia With Multilineage Dysplasia Following Myelodysplastic Syndrome Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Acute Myeloid Leukemia With Multilineage Dysplasia Following Myelodysplastic Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Autoimmune Polyendocrinopathy Syndrome, Type I, With Reversible Metaphyseal Dysplasia Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Autoimmune Polyendocrinopathy Syndrome, Type I, With Reversible Metaphyseal Dysplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Frontonasal Dysplasia, Severe Microphthalmia, Severe Facial Clefting Syndrome Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Frontonasal Dysplasia, Severe Microphthalmia, Severe Facial Clefting Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Cortical Dysplasia With Focal Epilepsy Syndrome Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Cortical Dysplasia With Focal Epilepsy Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Langer Mesomelic Dysplasia Syndrome Gene Set

From DisGeNET Gene-Disease Associations

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

Bent Bone Dysplasia Syndrome Gene Set

From DisGeNET Gene-Disease Associations

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

Caudal Dysplasia Syndrome Gene Set

From DisGeNET Gene-Disease Associations

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

Curly Hair-Ankyloblepharon-Nail Dysplasia Syndrome Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Curly Hair-Ankyloblepharon-Nail Dysplasia Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Cortical dysplasia-focal epilepsy syndrome Gene Set

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

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

Metaphyseal dysplasia-maxillary hypoplasia-brachydactyly syndrome Gene Set

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

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

Cortical dysplasia-focal epilepsy syndrome Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Cortical dysplasia-focal epilepsy syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome Gene Set

From ClinVar Gene-Phenotype Associations 2025

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

Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Langer mesomelic dysplasia syndrome Gene Set

From ClinVar Gene-Phenotype Associations 2025

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

Terminal osseous dysplasia-pigmentary defects syndrome Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Terminal osseous dysplasia-pigmentary defects syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Bent bone dysplasia syndrome Gene Set

From ClinVar Gene-Phenotype Associations 2025

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

Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Brachydactyly-elbow wrist dysplasia syndrome Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Brachydactyly-elbow wrist dysplasia syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Colobomatous microphthalmia-rhizomelic dysplasia syndrome Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Colobomatous microphthalmia-rhizomelic dysplasia syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Lethal occipital encephalocele-skeletal dysplasia syndrome Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Lethal occipital encephalocele-skeletal dysplasia syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Diencephalic-mesencephalic junction dysplasia syndrome Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Diencephalic-mesencephalic junction dysplasia syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Craniofacial dysplasia - osteopenia syndrome Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Craniofacial dysplasia - osteopenia 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-sleeper Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Short-sleeper 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.

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.

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-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.

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 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.

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.

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.

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.

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.

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 sleeper] Gene Set

From OMIM Gene-Disease Associations

genes associated with the [short sleeper] 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.

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 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 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.

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.

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 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.

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.

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.

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 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.

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.

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.

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 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.

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 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.

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-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.

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 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 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.

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.

Frontometaphyseal dysplasia Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Frontometaphyseal dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Czech dysplasia metatarsal type Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Czech dysplasia metatarsal type phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Epiphyseal dysplasia, multiple, 3, with myopathy Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Epiphyseal dysplasia, multiple, 3, with myopathy phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Spondyloperipheral dysplasia Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Spondyloperipheral dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Wolcott-Rallison dysplasia Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Wolcott-Rallison dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Craniodiaphyseal dysplasia, autosomal dominant Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Craniodiaphyseal dysplasia, autosomal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Progressive pseudorheumatoid dysplasia Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Progressive pseudorheumatoid dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Osteoglophonic dysplasia Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Osteoglophonic dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Gracile bone dysplasia Gene Set

From ClinVar Gene-Phenotype Associations

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

Frontonasal dysplasia Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Frontonasal dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Spondylometaphyseal dysplasia, Kozlowski type Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Spondylometaphyseal dysplasia, Kozlowski type phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Odontoonychodermal dysplasia Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Odontoonychodermal dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Spondyloepimetaphyseal dysplasia with multiple dislocations Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Spondyloepimetaphyseal dysplasia with multiple dislocations phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Renal-hepatic-pancreatic dysplasia 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Renal-hepatic-pancreatic dysplasia 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Acampomelic campomelic dysplasia Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Acampomelic campomelic dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Spondyloepimetaphyseal dysplasia, Missouri type Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Spondyloepimetaphyseal dysplasia, Missouri type phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Arrhythmogenic right ventricular dysplasia, familial, 13 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Arrhythmogenic right ventricular dysplasia, familial, 13 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Craniofrontonasal dysplasia Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Craniofrontonasal dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Spondyloepiphyseal dysplasia, kimberley type Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Spondyloepiphyseal dysplasia, kimberley type phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Arrhythmogenic right ventricular dysplasia, familial, 11, with mild palmoplantar keratoderma and woolly hair Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Arrhythmogenic right ventricular dysplasia, familial, 11, with mild palmoplantar keratoderma and woolly hair phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cardiac valvular dysplasia, X-linked Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cardiac valvular dysplasia, X-linked phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Trichorhinophalangeal dysplasia type I Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Trichorhinophalangeal dysplasia type I phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Diastrophic dysplasia Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Diastrophic dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Thanatophoric dysplasia type 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Thanatophoric dysplasia type 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Diaphyseal dysplasia Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Diaphyseal dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cleidocranial dysplasia, forme fruste, with brachydactyly Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cleidocranial dysplasia, forme fruste, with brachydactyly phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Craniometaphyseal dysplasia, autosomal dominant Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Craniometaphyseal dysplasia, autosomal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Schneckenbecken dysplasia Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Schneckenbecken dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Acromicric dysplasia Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Acromicric dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Terminal osseous dysplasia Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Terminal osseous dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Vitreoretinopathy with phalangeal epiphyseal dysplasia Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Vitreoretinopathy with phalangeal epiphyseal dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Acromesomelic dysplasia Maroteaux type Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Acromesomelic dysplasia Maroteaux type phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Renal dysplasia Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Renal dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Schimke immunoosseous dysplasia Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Schimke immunoosseous dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Acrocapitofemoral dysplasia Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Acrocapitofemoral dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Oculodentodigital dysplasia, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

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

Spondyloepiphyseal dysplasia with congenital joint dislocations Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Spondyloepiphyseal dysplasia with congenital joint dislocations phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Greenberg dysplasia Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Greenberg dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Boomerang dysplasia Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Boomerang dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Craniolenticulosutural dysplasia Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Craniolenticulosutural dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Oculodentodigital dysplasia Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Oculodentodigital dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Desbuquois dysplasia 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Desbuquois dysplasia 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cortical dysplasia, complex, with other brain malformations 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cortical dysplasia, complex, with other brain malformations 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cortical dysplasia, complex, with other brain malformations 3 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cortical dysplasia, complex, with other brain malformations 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cortical dysplasia, complex, with other brain malformations 6 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cortical dysplasia, complex, with other brain malformations 6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cortical dysplasia, complex, with other brain malformations 4 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cortical dysplasia, complex, with other brain malformations 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cortical dysplasia, complex, with other brain malformations 5 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cortical dysplasia, complex, with other brain malformations 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Spondylometaphyseal dysplasia with cone-rod dystrophy Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Spondylometaphyseal dysplasia with cone-rod dystrophy phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Chondroectodermal dysplasia Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Chondroectodermal dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Ischiopatellar dysplasia Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Ischiopatellar dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Geleophysic dysplasia Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Geleophysic dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Geleophysic dysplasia 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Geleophysic dysplasia 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Spondyloepimetaphyseal dysplasia, Aggrecan type Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Spondyloepimetaphyseal dysplasia, Aggrecan type phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Alveolar capillary dysplasia with misalignment of pulmonary veins Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Alveolar capillary dysplasia with misalignment of pulmonary veins phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Spondyloepimetaphyseal dysplasia Strudwick type Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Spondyloepimetaphyseal dysplasia Strudwick type phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Septo-optic dysplasia sequence Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Septo-optic dysplasia sequence phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Spondyloepiphyseal dysplasia Maroteaux type Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Spondyloepiphyseal dysplasia Maroteaux type phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Spondylo-megaepiphyseal-metaphyseal dysplasia Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Spondylo-megaepiphyseal-metaphyseal dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cranioectodermal dysplasia 4 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cranioectodermal dysplasia 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cranioectodermal dysplasia 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cranioectodermal dysplasia 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cranioectodermal dysplasia 3 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cranioectodermal dysplasia 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Epiphyseal dysplasia, multiple, with myopia and conductive deafness Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Epiphyseal dysplasia, multiple, with myopia and conductive deafness phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cranioectodermal dysplasia 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cranioectodermal dysplasia 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Fibrous dysplasia of jaw Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Fibrous dysplasia of jaw phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Smith McCort dysplasia Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Smith McCort dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Spondyloepiphyseal dysplasia congenita Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Spondyloepiphyseal dysplasia congenita phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Multiple epiphyseal dysplasia 6 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Multiple epiphyseal dysplasia 6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Multiple epiphyseal dysplasia 5 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Multiple epiphyseal dysplasia 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Multiple epiphyseal dysplasia 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Multiple epiphyseal dysplasia 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Spondyloepimetaphyseal dysplasia, pakistani type Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Spondyloepimetaphyseal dysplasia, pakistani type phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Kniest dysplasia Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Kniest dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Otospondylomegaepiphyseal dysplasia Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Otospondylomegaepiphyseal dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Metatrophic dysplasia Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Metatrophic dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Frontonasal dysplasia 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Frontonasal dysplasia 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Frontonasal dysplasia 3 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Frontonasal dysplasia 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Dyssegmental dysplasia Gene Set

From CTD Gene-Disease Associations

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

Frontometaphyseal dysplasia Gene Set

From CTD Gene-Disease Associations

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

DEVELOPMENTAL DYSPLASIA OF THE HIP 1 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease DEVELOPMENTAL DYSPLASIA OF THE HIP 1 from the curated CTD Gene-Disease Associations dataset.

GNATHODIAPHYSEAL DYSPLASIA Gene Set

From CTD Gene-Disease Associations

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

Acrocapitofemoral Dysplasia Gene Set

From CTD Gene-Disease Associations

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

Thanatophoric dysplasia, type 2 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Thanatophoric dysplasia, type 2 from the curated CTD Gene-Disease Associations dataset.

Cardiac valvular dysplasia, X-linked Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Cardiac valvular dysplasia, X-linked from the curated CTD Gene-Disease Associations dataset.

GREENBERG DYSPLASIA Gene Set

From CTD Gene-Disease Associations

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

Craniolenticulosutural Dysplasia Gene Set

From CTD Gene-Disease Associations

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

Mandibuloacral dysplasia with type B lipodystrophy Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Mandibuloacral dysplasia with type B lipodystrophy from the curated CTD Gene-Disease Associations dataset.

CRANIOECTODERMAL DYSPLASIA 2 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease CRANIOECTODERMAL DYSPLASIA 2 from the curated CTD Gene-Disease Associations dataset.

Focal cortical dysplasia of Taylor Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Focal cortical dysplasia of Taylor from the curated CTD Gene-Disease Associations dataset.

Multicystic renal dysplasia, bilateral Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Multicystic renal dysplasia, bilateral from the curated CTD Gene-Disease Associations dataset.

Epiphyseal Dysplasia, Multiple, with Myopia and Conductive Deafness Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Epiphyseal Dysplasia, Multiple, with Myopia and Conductive Deafness from the curated CTD Gene-Disease Associations dataset.

Cranioectodermal Dysplasia Gene Set

From CTD Gene-Disease Associations

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

TERMINAL OSSEOUS DYSPLASIA Gene Set

From CTD Gene-Disease Associations

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

Thanatophoric Dysplasia, Type I Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Thanatophoric Dysplasia, Type I from the curated CTD Gene-Disease Associations dataset.

Acromicric dysplasia Gene Set

From CTD Gene-Disease Associations

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

Langer mesomelic dysplasia Gene Set

From CTD Gene-Disease Associations

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

Cleidocranial Dysplasia Gene Set

From CTD Gene-Disease Associations

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

FRONTONASAL DYSPLASIA 1 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease FRONTONASAL DYSPLASIA 1 from the curated CTD Gene-Disease Associations dataset.

FRONTONASAL DYSPLASIA 2 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease FRONTONASAL DYSPLASIA 2 from the curated CTD Gene-Disease Associations dataset.

Bronchopulmonary Dysplasia Gene Set

From CTD Gene-Disease Associations

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

Spondylo-Megaepiphyseal-Metaphyseal Dysplasia Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Spondylo-Megaepiphyseal-Metaphyseal Dysplasia from the curated CTD Gene-Disease Associations dataset.

Spondyloepiphyseal Dysplasia Tarda, X-Linked Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Spondyloepiphyseal Dysplasia Tarda, X-Linked from the curated CTD Gene-Disease Associations dataset.

Polyostotic osteolytic dysplasia, hereditary expansile Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Polyostotic osteolytic dysplasia, hereditary expansile from the curated CTD Gene-Disease Associations dataset.

FRONTONASAL DYSPLASIA 3 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease FRONTONASAL DYSPLASIA 3 from the curated CTD Gene-Disease Associations dataset.

Schimke immunoosseous dysplasia Gene Set

From CTD Gene-Disease Associations

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

ACROMESOMELIC DYSPLASIA, HUNTER-THOMPSON TYPE Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease ACROMESOMELIC DYSPLASIA, HUNTER-THOMPSON TYPE from the curated CTD Gene-Disease Associations dataset.

Craniofrontonasal dysplasia Gene Set

From CTD Gene-Disease Associations

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

Oculodentodigital Dysplasia Gene Set

From CTD Gene-Disease Associations

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

Anal sphincter dysplasia Gene Set

From CTD Gene-Disease Associations

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

Platyspondylic Lethal Skeletal Dysplasia, Torrance Type Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Platyspondylic Lethal Skeletal Dysplasia, Torrance Type from the curated CTD Gene-Disease Associations dataset.

Anauxetic dysplasia Gene Set

From CTD Gene-Disease Associations

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

Mental Retardation, Skeletal Dysplasia, and Abducens Palsy Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Mental Retardation, Skeletal Dysplasia, and Abducens Palsy from the curated CTD Gene-Disease Associations dataset.

Hypopituitarism and septooptic 'dysplasia' Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Hypopituitarism and septooptic 'dysplasia' from the curated CTD Gene-Disease Associations dataset.

Odontoonychodermal dysplasia Gene Set

From CTD Gene-Disease Associations

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

Spondylometaphyseal dysplasia, Kozlowski type Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Spondylometaphyseal dysplasia, Kozlowski type from the curated CTD Gene-Disease Associations dataset.

SPONDYLOPERIPHERAL DYSPLASIA Gene Set

From CTD Gene-Disease Associations

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

RENAL-HEPATIC-PANCREATIC DYSPLASIA 1 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease RENAL-HEPATIC-PANCREATIC DYSPLASIA 1 from the curated CTD Gene-Disease Associations dataset.

Spondyloepiphyseal Dysplasia, Kimberley Type Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Spondyloepiphyseal Dysplasia, Kimberley Type from the curated CTD Gene-Disease Associations dataset.

Craniometaphyseal Dysplasia, Autosomal Dominant Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Craniometaphyseal Dysplasia, Autosomal Dominant from the curated CTD Gene-Disease Associations dataset.

Schneckenbecken dysplasia Gene Set

From CTD Gene-Disease Associations

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

Thanatophoric Dysplasia Gene Set

From CTD Gene-Disease Associations

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

Ghosal Hematodiaphyseal Dysplasia Gene Set

From CTD Gene-Disease Associations

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

Smith-McCort Dysplasia Gene Set

From CTD Gene-Disease Associations

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

Diastrophic dysplasia Gene Set

From CTD Gene-Disease Associations

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

Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 from the curated CTD Gene-Disease Associations dataset.

Arrhythmogenic Right Ventricular Dysplasia, Familial, 6 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Arrhythmogenic Right Ventricular Dysplasia, Familial, 6 from the curated CTD Gene-Disease Associations dataset.

Arrhythmogenic Right Ventricular Dysplasia, Familial, 2 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Arrhythmogenic Right Ventricular Dysplasia, Familial, 2 from the curated CTD Gene-Disease Associations dataset.

Fibrous Dysplasia, Polyostotic Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Fibrous Dysplasia, Polyostotic from the curated CTD Gene-Disease Associations dataset.

RETINAL DYSPLASIA, PRIMARY Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease RETINAL DYSPLASIA, PRIMARY from the curated CTD Gene-Disease Associations dataset.

SPONDYLOEPIPHYSEAL DYSPLASIA, MAROTEAUX TYPE Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease SPONDYLOEPIPHYSEAL DYSPLASIA, MAROTEAUX TYPE from the curated CTD Gene-Disease Associations dataset.

Fibrous Dysplasia of Bone Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Fibrous Dysplasia of Bone from the curated CTD Gene-Disease Associations dataset.

Metaphyseal Dysplasia without Hypotrichosis Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Metaphyseal Dysplasia without Hypotrichosis from the curated CTD Gene-Disease Associations dataset.

OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA Gene Set

From CTD Gene-Disease Associations

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

Boomerang dysplasia Gene Set

From CTD Gene-Disease Associations

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

Pelviscapular dysplasia Gene Set

From CTD Gene-Disease Associations

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

Arrhythmogenic Right Ventricular Dysplasia, Familial, 11 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Arrhythmogenic Right Ventricular Dysplasia, Familial, 11 from the curated CTD Gene-Disease Associations dataset.

Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 from the curated CTD Gene-Disease Associations dataset.

Arrhythmogenic Right Ventricular Dysplasia, Familial, 12 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Arrhythmogenic Right Ventricular Dysplasia, Familial, 12 from the curated CTD Gene-Disease Associations dataset.

GELEOPHYSIC DYSPLASIA 1 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease GELEOPHYSIC DYSPLASIA 1 from the curated CTD Gene-Disease Associations dataset.

Torticollis keloids cryptorchidism renal dysplasia Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Torticollis keloids cryptorchidism renal dysplasia from the curated CTD Gene-Disease Associations dataset.

Campomelic Dysplasia Gene Set

From CTD Gene-Disease Associations

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

Alveolar capillary dysplasia Gene Set

From CTD Gene-Disease Associations

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

Ischiopatellar dysplasia Gene Set

From CTD Gene-Disease Associations

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

Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 from the curated CTD Gene-Disease Associations dataset.

Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 from the curated CTD Gene-Disease Associations dataset.

Arrhythmogenic Right Ventricular Dysplasia, Familial, 1 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Arrhythmogenic Right Ventricular Dysplasia, Familial, 1 from the curated CTD Gene-Disease Associations dataset.

Arrhythmogenic Right Ventricular Dysplasia, Familial, 3 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Arrhythmogenic Right Ventricular Dysplasia, Familial, 3 from the curated CTD Gene-Disease Associations dataset.

Renal hepatic pancreatic dysplasia Dandy Walker cyst Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Renal hepatic pancreatic dysplasia Dandy Walker cyst from the curated CTD Gene-Disease Associations dataset.

Nail dysplasia, isolated congenital Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Nail dysplasia, isolated congenital from the curated CTD Gene-Disease Associations dataset.

DENTIN DYSPLASIA, TYPE II Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease DENTIN DYSPLASIA, TYPE II from the curated CTD Gene-Disease Associations dataset.

Spondyloepimetaphyseal Dysplasia, Matrilin-3 Related Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Spondyloepimetaphyseal Dysplasia, Matrilin-3 Related from the curated CTD Gene-Disease Associations dataset.

Arrhythmogenic Right Ventricular Dysplasia, Familial, 4 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Arrhythmogenic Right Ventricular Dysplasia, Familial, 4 from the curated CTD Gene-Disease Associations dataset.

Macrocephaly with Multiple Epiphyseal Dysplasia and Distinctive Facies Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Macrocephaly with Multiple Epiphyseal Dysplasia and Distinctive Facies from the curated CTD Gene-Disease Associations dataset.

Mandibuloacral dysplasia with type A lipodystrophy Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Mandibuloacral dysplasia with type A lipodystrophy from the curated CTD Gene-Disease Associations dataset.

Oculodentodigital Dysplasia, Autosomal Recessive Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Oculodentodigital Dysplasia, Autosomal Recessive from the curated CTD Gene-Disease Associations dataset.

Spondyloepimetaphyseal Dysplasia, Missouri Type Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Spondyloepimetaphyseal Dysplasia, Missouri Type from the curated CTD Gene-Disease Associations dataset.

SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS from the curated CTD Gene-Disease Associations dataset.

Acromesomelic dysplasia, Maroteaux type Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Acromesomelic dysplasia, Maroteaux type from the curated CTD Gene-Disease Associations dataset.

ACROPECTOROVERTEBRAL DYSPLASIA Gene Set

From CTD Gene-Disease Associations

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

Spondyloepiphyseal dysplasia, congenita Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Spondyloepiphyseal dysplasia, congenita from the curated CTD Gene-Disease Associations dataset.

Spondyloepimetaphyseal Dysplasia, Pakistani Type Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Spondyloepimetaphyseal Dysplasia, Pakistani Type from the curated CTD Gene-Disease Associations dataset.

Spondyloepimetaphyseal Dysplasia, Aggrecan Type Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Spondyloepimetaphyseal Dysplasia, Aggrecan Type from the curated CTD Gene-Disease Associations dataset.

Parietal Foramina With Cleidocranial Dysplasia Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Parietal Foramina With Cleidocranial Dysplasia from the curated CTD Gene-Disease Associations dataset.

Eiken Skeletal Dysplasia Gene Set

From CTD Gene-Disease Associations

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

Kniest dysplasia Gene Set

From CTD Gene-Disease Associations

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

Frontonasal dysplasia Gene Set

From CTD Gene-Disease Associations

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

Epiphyseal dysplasia, multiple, 1 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Epiphyseal dysplasia, multiple, 1 from the curated CTD Gene-Disease Associations dataset.

Epiphyseal dysplasia, multiple, 3 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Epiphyseal dysplasia, multiple, 3 from the curated CTD Gene-Disease Associations dataset.

Epiphyseal dysplasia, multiple, 2 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Epiphyseal dysplasia, multiple, 2 from the curated CTD Gene-Disease Associations dataset.

Epiphyseal dysplasia, multiple, 5 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Epiphyseal dysplasia, multiple, 5 from the curated CTD Gene-Disease Associations dataset.

Epiphyseal dysplasia, multiple, 4 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Epiphyseal dysplasia, multiple, 4 from the curated CTD Gene-Disease Associations dataset.

Hip Dysplasia, Beukes Type Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Hip Dysplasia, Beukes Type from the curated CTD Gene-Disease Associations dataset.

craniometaphyseal dysplasia Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores

genes involed in the disease craniometaphyseal dysplasia from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

spondyloepimetaphyseal dysplasia Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores

genes involed in the disease spondyloepimetaphyseal dysplasia from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

thanatophoric dysplasia Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores

genes involed in the disease thanatophoric dysplasia from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

campomelic dysplasia Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores

genes involed in the disease campomelic dysplasia from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

otospondylomegaepiphyseal dysplasia Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores

genes involed in the disease otospondylomegaepiphyseal dysplasia from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

kniest dysplasia Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores

genes involed in the disease kniest dysplasia from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

sost-related sclerosing bone dysplasia Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores

genes involed in the disease sost-related sclerosing bone dysplasia from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

boomerang dysplasia Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores

genes involed in the disease boomerang dysplasia from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

cleidocranial dysplasia Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores

genes involed in the disease cleidocranial dysplasia from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

spondyloepiphyseal dysplasia congenita Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores

genes involed in the disease spondyloepiphyseal dysplasia congenita from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

spondyloepimetaphyseal dysplasia, strudwick type Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores

genes involed in the disease spondyloepimetaphyseal dysplasia, strudwick type from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

diastrophic dysplasia Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores

genes involed in the disease diastrophic dysplasia from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

multiple epiphyseal dysplasia Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores

genes involed in the disease multiple epiphyseal dysplasia from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

thanatophoric dysplasia Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

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

metaphyseal dysplasia Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

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

spondyloepimetaphyseal dysplasia, strudwick type Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

genes co-occuring with the disease spondyloepimetaphyseal dysplasia, strudwick type in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

dentin dysplasia Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

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

spondyloepimetaphyseal dysplasia, missouri type Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

genes co-occuring with the disease spondyloepimetaphyseal dysplasia, missouri type in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

spondyloepiphyseal dysplasia congenita Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

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

spondyloepimetaphyseal dysplasia, sponastrime type Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

genes co-occuring with the disease spondyloepimetaphyseal dysplasia, sponastrime type in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

multiple epiphyseal dysplasia Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

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

acromesomelic dysplasia Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

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

anauxetic dysplasia Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

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

craniometaphyseal dysplasia Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

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

sost-related sclerosing bone dysplasia Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

genes co-occuring with the disease sost-related sclerosing bone dysplasia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

cleidocranial dysplasia Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

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

benign mammary dysplasia Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

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

acromesomelic dysplasia, maroteaux type Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

genes co-occuring with the disease acromesomelic dysplasia, maroteaux type in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

schneckenbecken dysplasia Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

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

otospondylomegaepiphyseal dysplasia Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

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

craniodiaphyseal dysplasia Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

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

diastrophic dysplasia Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

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

thymic dysplasia Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

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

campomelic dysplasia Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

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

spondyloepimetaphyseal dysplasia Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

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

kniest dysplasia Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

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

boomerang dysplasia Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

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