Name

ClinVar Gene-Phenotype Associations Dataset (Archived)

From ClinVar

SNP-phenotype associations curated by ClinVar users from various sources

GWAS Catalog SNP-Phenotype Associations Dataset (Archived)

From GWAS Catalog

SNP-phenotype association p-values curated from published GWAS

GWASdb SNP-Phenotype Associations Dataset

From GWASdb

SNP-phenotype association p-values curated from published GWAS

HuGE Navigator Gene-Phenotype Associations Dataset

From HuGE Navigator

Gene-phenotype associations extracted from published GWAS by automated text-mining

MPO Gene-Phenotype Associations Dataset (Archived)

From Mammalian Phenotype Ontology

Observed phenotypes of transgenic mice collected from mouse phenotyping studies

DisGeNET Gene-Phenotype Associations Dataset

From DisGeNET

Gene-phenotype associations sourced from curated repositories, GWAS catalogues, animal models and the scientific literature

MGI Mouse Phenotype Associations 2023 Dataset

From Mammalian Phenotype Ontology

Observed phenotypes of transgenic mice collected from mouse phenotyping studies

ClinVar Gene-Phenotype Associations 2025 Dataset

From ClinVar

SNP-phenotype associations curated by ClinVar users from various sources

GWAS Catalog SNP-Phenotype Associations 2025 Dataset

From GWAS Catalog

SNP-phenotype association p-values curated from published GWAS

HPO Gene-Disease Associations Dataset

From Human Phenotype Ontology

Phenotype-causing gene mutations of human phenotypes from disease knowledgebases

SMAL Gene

spinal muscular atrophy, congenital nonprogressive, of lower limbs

ABHD11-AS1 Gene

ABHD11 antisense RNA 1 (tail to tail)

LOC100196944 Gene

CD2 (cytoplasmic tail) binding protein 2 pseudogene

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]

KIR3DL1 Gene

killer cell immunoglobulin-like receptor, three domains, long 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]

KIR3DL2 Gene

killer cell immunoglobulin-like receptor, three domains, long 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 is one of the `framework` loci that is present on all haplotypes. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jun 2011]

KIR3DL3 Gene

killer cell immunoglobulin-like receptor, three domains, long 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. This gene is one of the `framework` loci that is present on all haplotypes. [provided by RefSeq, Jul 2008]

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]

CYSRT1 Gene

cysteine-rich tail protein 1

Enables identical protein binding activity. Involved in biological process involved in interaction with symbiont and establishment of skin barrier. Located in cornified envelope. [provided by Alliance of Genome Resources, Mar 2025]

APPBP2 Gene

amyloid beta precursor protein (cytoplasmic tail) binding protein 2

The protein encoded by this gene interacts with microtubules and is functionally associated with beta-amyloid precursor protein transport and/or processing. The beta-amyloid precursor protein is a cell surface protein with signal-transducing properties, and it is thought to play a role in the pathogenesis of Alzheimer's disease. The encoded protein may be involved in regulating cell death. This gene has been found to be highly expressed in breast cancer. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]

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]

COLQ Gene

collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase

This gene encodes the subunit of a collagen-like molecule associated with acetylcholinesterase in skeletal muscle. Each molecule is composed of three identical subunits. Each subunit contains a proline-rich attachment domain (PRAD) that binds an acetylcholinesterase tetramer to anchor the catalytic subunit of the enzyme to the basal lamina. Mutations in this gene are associated with endplate acetylcholinesterase deficiency. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

SMDT1 Gene

single-pass membrane protein with aspartate-rich tail 1

This gene encodes a core regulatory component of a calcium channel in the mitochondrial inner membrane. [provided by RefSeq, Apr 2017]

CD2BP2 Gene

CD2 (cytoplasmic tail) binding protein 2

This gene encodes a bi-functional protein. In the cytoplasm, the encoded protein binds the cytoplasmic tail of human surface antigen CD2 via its C-terminal GYF domain, and regulate CD2-triggered T lymphocyte activation. In the nucleus, this protein is a component of the U5 small nuclear ribonucleoprotein complex and is involved in RNA splicing. A pseudogene has been identified on chromosome 7. Alternative splicing results in multiple transcript variants but their biological validity has not been determined. [provided by RefSeq, Nov 2008]

KIR2DL5B Gene

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

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]

KIR2DL5A Gene

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

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]

STPG2 Gene

sperm-tail PG-rich repeat containing 2

STPG1 Gene

sperm-tail PG-rich repeat containing 1

Involved in positive regulation of apoptotic process and positive regulation of mitochondrial membrane permeability involved in apoptotic process. Predicted to be located in mitochondrion and nucleus. [provided by Alliance of Genome Resources, Mar 2025]

ROPN1 Gene

rhophilin associated tail protein 1

The protein encoded by this gene is found in the fibrous sheath of spermatazoa, where it interacts with rhophilin, a Rho GTPase binding protein. The encoded protein also can bind an A-kinase anchoring protein (AKAP110) and a calcium-binding tyrosine phosphorylation-regulated protein (CABYR). This protein may be involved in sperm motility and has been shown to be a cancer-testis antigen in hematologic malignancies. Several transcript variants, some protein-coding and some non-protein coding, have been found for this gene. [provided by RefSeq, Dec 2015]

LMNTD1 Gene

lamin tail domain containing 1

Predicted to act upstream of or within cell population proliferation. Predicted to be located in intermediate filament and nucleus. Predicted to be active in cytoplasm and nuclear envelope. [provided by Alliance of Genome Resources, Mar 2025]

LMNTD2 Gene

lamin tail domain containing 2

Predicted to be a structural constituent of chromatin. Predicted to act upstream of or within positive regulation of mRNA splicing, via spliceosome. Predicted to be active in lamin filament. [provided by Alliance of Genome Resources, Mar 2025]

KIR2DL3 Gene

killer cell immunoglobulin-like receptor, two domains, long 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]

KIR2DL2 Gene

killer cell immunoglobulin-like receptor, two domains, long 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. [provided by RefSeq, Jul 2008]

KIR2DL1 Gene

killer cell immunoglobulin-like receptor, two domains, long 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]

KIR2DL4 Gene

killer cell immunoglobulin-like receptor, two domains, long 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. This gene is one of the `framework` loci that is present on all haplotypes. Alternate alleles of this gene are represented on multiple alternate reference loci (ALT_REF_LOCs). Alternative splicing results in multiple transcript variants, some of which may not be annotated on the primary reference assembly. [provided by RefSeq, Jul 2016]

ROPN1B Gene

rhophilin associated tail protein 1B

Enables protein heterodimerization activity. Predicted to be involved in several processes, including flagellated sperm motility; protein localization to cilium; and sperm capacitation. Located in cytoplasm and motile cilium. [provided by Alliance of Genome Resources, Mar 2025]

ROPN1L Gene

rhophilin associated tail protein 1-like

This gene encodes a member of the ropporin family. The encoded protein is present in sperm and interacts with A-kinase anchoring protein, AKAP3, through the amphipathic helix region of AKAP3. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Oct 2014]

GET3 Gene

guided entry of tail-anchored proteins factor 3, ATPase

This gene represents the human homolog of the bacterial arsA gene, encoding the arsenite-stimulated ATPase component of the arsenite transporter responsible for resistance to arsenicals. This protein is also a central component of a transmembrane domain (TMD) recognition complex (TRC) that is involved in the post-translational delivery of tail-anchored (TA) proteins from the cytosol to the endoplasmic reticulum (ER). It recognizes and selectively binds the TMD of TA proteins in the cytosol, and delivers them to the ER for insertion. [provided by RefSeq, Oct 2011]

GET1 Gene

guided entry of tail-anchored proteins factor 1

This gene is located in the candidate region for congenital heart disease (CHD) in Down syndrome (DS). It encodes a basic protein that functions as a receptor that promotes insertion of tail-anchored proteins in the endoplasmic reticulum membrane. This gene is located at a maternally-methylated differentially methylated region (DMR); however, its transcription may be biallelic, not imprinted. Alternative splicing results in different transcript variants. A pseudogene has been defined on chromosome 4. [provided by RefSeq, Apr 2017]

STPG4 Gene

sperm-tail PG-rich repeat containing 4

Predicted to enable chromatin binding activity and histone binding activity. Predicted to be involved in epigenetic programing of male pronucleus. Predicted to act upstream of or within pyrimidine-containing compound catabolic process. Predicted to be located in cytoplasm and nucleus. Predicted to be active in female pronucleus; germinal vesicle; and male pronucleus. [provided by Alliance of Genome Resources, Mar 2025]

STPG3 Gene

sperm-tail PG-rich repeat containing 3

Predicted to be active in cytoskeleton. [provided by Alliance of Genome Resources, Mar 2025]

LMTK1 Gene

lemur tail kinase 1

The protein encoded by this gene contains a tyrosine kinase domain at the N-terminus and a proline-rich domain at the C-terminus. This gene is induced during apoptosis, and expression of this gene may be a necessary pre-requisite for the induction of growth arrest and/or apoptosis of myeloid precursor cells. This gene has been shown to produce neuronal differentiation in a neuroblastoma cell line. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2011]

limbs/digits/tail phenotype Gene Set

From MPO Gene-Phenotype Associations

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

limbs/digits/tail phenotype Gene Set

From MGI Mouse Phenotype Associations 2023

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

digits Gene Set

From BioGPS Mouse Cell Type and Tissue Gene Expression Profiles

genes with high or low expression in digits relative to other cell types and tissues from the BioGPS Mouse Cell Type and Tissue Gene Expression Profiles dataset.

digits Gene Set

From GeneRIF Biological Term Annotations

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

synostosis involving digits Gene Set

From HPO Gene-Disease Associations

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

acral ulceration and osteomyelitis leading to autoamputation of digits Gene Set

From HPO Gene-Disease Associations

genes associated with the acral ulceration and osteomyelitis leading to autoamputation of digits phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

acral ulceration leading to autoamputation of digits Gene Set

From HPO Gene-Disease Associations

genes associated with the acral ulceration leading to autoamputation of digits phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

proportionate shortening of all digits Gene Set

From HPO Gene-Disease Associations

genes associated with the proportionate shortening of all digits phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

autoamputation of digits Gene Set

From HPO Gene-Disease Associations

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

acral ulceration and osteomyelitis leading to autoamputation of the digits (feet) Gene Set

From HPO Gene-Disease Associations

genes associated with the acral ulceration and osteomyelitis leading to autoamputation of the digits (feet) phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

truncation of digits Gene Set

From MPO Gene-Phenotype Associations

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

ectopic digits Gene Set

From MPO Gene-Phenotype Associations

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

Proportionate Shortening Of All Digits Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Proportionate Shortening Of All Digits in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

ectopic digits Gene Set

From MGI Mouse Phenotype Associations 2023

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

truncated digits Gene Set

From MGI Mouse Phenotype Associations 2023

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

Fibroosseous pseudotumor of digits Gene Set

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

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

Rapid automised naming of digits Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Rapid automised naming of digits phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

HOXD13-18407260-invivo in developing limbs-mouse Gene Set

From ChEA Transcription Factor Binding Site Profiles

genes with transcription factor binding evidence in the HOXD13-18407260-invivo in developing limbs-mouse transcription factor binding site profile from the CHEA Transcription Factor Binding Site Profiles dataset.

Microcephaly, microphthalmia, ectrodactyly of lower limbs, and prognathism Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Microcephaly, microphthalmia, ectrodactyly of lower limbs, and prognathism from the curated CTD Gene-Disease Associations dataset.

limbs Gene Set

From GeneRIF Biological Term Annotations

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

diaphyseal sclerosis of the upper limbs Gene Set

From GWASdb SNP-Phenotype Associations

genes associated with the diaphyseal sclerosis of the upper limbs phenotype in GWAS datasets from the GWASdb SNP-Phenotype Associations dataset.

abnormality of limbs Gene Set

From GWASdb SNP-Phenotype Associations

genes associated with the abnormality of limbs phenotype in GWAS datasets from the GWASdb SNP-Phenotype Associations dataset.

sclerosis of metaphyses of the upper limbs Gene Set

From GWASdb SNP-Phenotype Associations

genes associated with the sclerosis of metaphyses of the upper limbs phenotype in GWAS datasets from the GWASdb SNP-Phenotype Associations dataset.

spinocerebellar tract disease in lower limbs Gene Set

From HPO Gene-Disease Associations

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

abnormality of the musculature of the upper limbs Gene Set

From HPO Gene-Disease Associations

genes associated with the abnormality of the musculature of the upper limbs phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

abnormality of the musculature of the limbs Gene Set

From HPO Gene-Disease Associations

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

abnormal morphology of bones of the lower limbs Gene Set

From HPO Gene-Disease Associations

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

impaired vibration sensation in the lower limbs Gene Set

From HPO Gene-Disease Associations

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

osteolysis involving bones of the lower limbs Gene Set

From HPO Gene-Disease Associations

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

hyporeflexia of upper limbs Gene Set

From HPO Gene-Disease Associations

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

loss of subcutaneous adipose tissue in limbs Gene Set

From HPO Gene-Disease Associations

genes associated with the loss of subcutaneous adipose tissue in limbs phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

aplasia/hypoplasia involving bones of the lower limbs Gene Set

From HPO Gene-Disease Associations

genes associated with the aplasia/hypoplasia involving bones of the lower limbs phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

synostosis involving bones of the upper limbs Gene Set

From HPO Gene-Disease Associations

genes associated with the synostosis involving bones of the upper limbs phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

bowing of limbs due to multiple fractures Gene Set

From HPO Gene-Disease Associations

genes associated with the bowing of limbs due to multiple fractures phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

abnormal morphology of bones of the upper limbs Gene Set

From HPO Gene-Disease Associations

genes associated with the abnormal morphology of bones of the upper limbs phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

abnormality of the musculature of the lower limbs Gene Set

From HPO Gene-Disease Associations

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

contractures of the joints of the lower limbs Gene Set

From HPO Gene-Disease Associations

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

aplasia/hypoplasia involving bones of the upper limbs Gene Set

From HPO Gene-Disease Associations

genes associated with the aplasia/hypoplasia involving bones of the upper limbs phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

synostosis involving bones of the lower limbs Gene Set

From HPO Gene-Disease Associations

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

proximal muscle weakness in lower limbs Gene Set

From HPO Gene-Disease Associations

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

distal shortening of limbs Gene Set

From HPO Gene-Disease Associations

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

abnormality of limbs Gene Set

From HPO Gene-Disease Associations

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

areflexia of lower limbs Gene Set

From HPO Gene-Disease Associations

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

aplasia cutis congenita on trunk or limbs Gene Set

From HPO Gene-Disease Associations

genes associated with the aplasia cutis congenita on trunk or limbs 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.

aplasia involving bones of the lower limbs Gene Set

From HPO Gene-Disease Associations

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

edema of the lower limbs Gene Set

From HPO Gene-Disease Associations

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

hyporeflexia of lower limbs Gene Set

From HPO Gene-Disease Associations

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

proximal muscle weakness in upper limbs Gene Set

From HPO Gene-Disease Associations

genes associated with the proximal muscle weakness in upper limbs phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

aplasia involving bones of the upper limbs Gene Set

From HPO Gene-Disease Associations

genes associated with the aplasia involving bones of the upper limbs phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

contractures of the joints of the upper limbs Gene Set

From HPO Gene-Disease Associations

genes associated with the contractures of the joints of the upper limbs phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

aplasia/hypoplasia involving the musculature of the upper limbs Gene Set

From HPO Gene-Disease Associations

genes associated with the aplasia/hypoplasia involving the musculature of the upper limbs phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

absent limbs Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the absent limbs 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.

long limbs Gene Set

From MPO Gene-Phenotype Associations

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

Cortical Diaphyseal Thickening Of The Upper Limbs Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Cortical Diaphyseal Thickening Of The Upper Limbs in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Abnormality Of The Musculature Of The Lower Limbs Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Abnormality Of The Musculature Of The Lower Limbs in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Spinocerebellar Tract Disease In Lower Limbs Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Spinocerebellar Tract Disease In Lower Limbs in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Impaired Vibration Sensation In The Lower Limbs Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Impaired Vibration Sensation In The Lower Limbs in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Hyporeflexia Of Lower Limbs Gene Set

From DisGeNET Gene-Phenotype Associations

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

Loss Of Subcutaneous Adipose Tissue In Limbs Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Loss Of Subcutaneous Adipose Tissue In Limbs in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Hyperreflexia In Upper Limbs Gene Set

From DisGeNET Gene-Phenotype Associations

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

Proximal Muscle Weakness In Lower Limbs Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Proximal Muscle Weakness In Lower Limbs in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Proximal Muscle Weakness In Upper Limbs Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Proximal Muscle Weakness In Upper Limbs in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Aplasia Cutis Congenita On Trunk Or Limbs Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Aplasia Cutis Congenita On Trunk Or Limbs in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Hyporeflexia Of Upper Limbs Gene Set

From DisGeNET Gene-Phenotype Associations

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

Bowing Of Limbs Due To Multiple Fractures Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Bowing Of Limbs Due To Multiple Fractures in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Abnormality Of Limbs Gene Set

From DisGeNET Gene-Phenotype Associations

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

Rickets Of The Lower Limbs Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Rickets Of The Lower Limbs in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Distal Shortening Of Limbs Gene Set

From DisGeNET Gene-Phenotype Associations

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

Loss Of Subcutaneous Adipose Tissue From Upper Limbs Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Loss Of Subcutaneous Adipose Tissue From Upper Limbs in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Rigidity Of Limbs Gene Set

From DisGeNET Gene-Phenotype Associations

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

Osteolysis Involving Bones Of The Upper Limbs Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Osteolysis Involving Bones Of The Upper Limbs in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Stiff Limbs Gene Set

From DisGeNET Gene-Phenotype Associations

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

HOXD13-18407260-DEVELOPING-LIMBS-MOUSE Gene Set

From ChEA Transcription Factor Targets 2022

target genes of the HOXD13-18407260-DEVELOPING-LIMBS-MOUSE transcription factor in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets 2022 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.

absent limbs Gene Set

From MGI Mouse Phenotype Associations 2023

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

long limbs Gene Set

From MGI Mouse Phenotype Associations 2023

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

Multiple benign circumferential skin creases on limbs Gene Set

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

genes co-occuring with the disease Multiple benign circumferential skin creases on limbs in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Congenital limbs-face contractures-hypotonia-developmental delay syndrome Gene Set

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

genes co-occuring with the disease Congenital limbs-face contractures-hypotonia-developmental delay syndrome in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Ulcer of lower limbs Gene Set

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

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

Multiple benign circumferential skin creases on limbs Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Multiple benign circumferential skin creases on limbs phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Congenital contractures of the limbs and face Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Congenital contractures of the limbs and face phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Proximal muscle weakness in lower limbs Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Proximal muscle weakness in lower limbs phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Distal shortening of limbs Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Distal shortening of limbs phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

tail of caudate nucleus, left Gene Set

From Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles

genes with high or low expression in tail of caudate nucleus, left relative to other tissues from the Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles dataset.

tail of caudate nucleus, right Gene Set

From Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles

genes with high or low expression in tail of caudate nucleus, right relative to other tissues from the Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles dataset.

tail of caudate Gene Set

From Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles

genes with high or low expression in tail of caudate relative to other tissues from the Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles dataset.

virus tail, baseplate Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the virus tail, baseplate cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

virus tail, tube Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the virus tail, tube cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

virus tail, minor subunit Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the virus tail, minor subunit cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

virus tail Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

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

virus tail, fiber Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the virus tail, fiber cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

virus tail, major subunit Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the virus tail, major subunit cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

tail Gene Set

From GeneRIF Biological Term Annotations

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

positive regulation of nuclear-transcribed mrna poly(a) tail shortening Gene Set

From GO Biological Process Annotations 2015

genes participating in the positive regulation of nuclear-transcribed mrna poly(a) tail shortening biological process from the curated GO Biological Process Annotations 2015 dataset.

post-anal tail morphogenesis Gene Set

From GO Biological Process Annotations 2015

genes participating in the post-anal tail morphogenesis biological process from the curated GO Biological Process Annotations 2015 dataset.

regulation of nuclear-transcribed mrna poly(a) tail shortening Gene Set

From GO Biological Process Annotations 2015

genes participating in the regulation of nuclear-transcribed mrna poly(a) tail shortening biological process from the curated GO Biological Process Annotations 2015 dataset.

nuclear-transcribed mrna poly(a) tail shortening Gene Set

From GO Biological Process Annotations 2015

genes participating in the nuclear-transcribed mrna poly(a) tail shortening biological process from the curated GO Biological Process Annotations 2015 dataset.

negative regulation of nuclear-transcribed mrna poly(a) tail shortening Gene Set

From GO Biological Process Annotations 2015

genes participating in the negative regulation of nuclear-transcribed mrna poly(a) tail shortening biological process from the curated GO Biological Process Annotations 2015 dataset.

tail-anchored membrane protein insertion into er membrane Gene Set

From GO Biological Process Annotations 2015

genes participating in the tail-anchored membrane protein insertion into er membrane biological process from the curated GO Biological Process Annotations 2015 dataset.

myosin tail binding Gene Set

From GO Molecular Function Annotations 2015

genes performing the myosin tail binding molecular function from the curated GO Molecular Function Annotations 2015 dataset.

Sickle tail protein Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Sickle tail protein protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Myosin tail Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Myosin tail protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Lamin Tail Domain Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Lamin Tail Domain protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Sperm-tail PG-rich repeat Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Sperm-tail PG-rich repeat protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Moesin tail domain Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Moesin tail domain protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Mucin, catalytic, TM and cytoplasmic tail domain Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Mucin, catalytic, TM and cytoplasmic tail domain protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Integrin beta subunit, tail Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Integrin beta subunit, tail protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Myosin tail 2 Gene Set

From InterPro Predicted Protein Domain Annotations

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

Tail specific protease Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Tail specific protease protein domain from the InterPro Predicted Protein Domain Annotations 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.

tail necrosis Gene Set

From MPO Gene-Phenotype Associations

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

abnormal tail development Gene Set

From MPO Gene-Phenotype Associations

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

bifurcated tail Gene Set

From MPO Gene-Phenotype Associations

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

non-pigmented tail tip Gene Set

From MPO Gene-Phenotype Associations

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

thin tail Gene Set

From MPO Gene-Phenotype Associations

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

hairless tail Gene Set

From MPO Gene-Phenotype Associations

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

abnormal tail morphology Gene Set

From MPO Gene-Phenotype Associations

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

enlarged tail bud Gene Set

From MPO Gene-Phenotype Associations

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

tail telangiectases Gene Set

From MPO Gene-Phenotype Associations

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

curly tail Gene Set

From MPO Gene-Phenotype Associations

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

abnormal tail position or orientation Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the abnormal tail position or orientation phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

tail dragging Gene Set

From MPO Gene-Phenotype Associations

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

truncated tail bud Gene Set

From MPO Gene-Phenotype Associations

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

wavy tail Gene Set

From MPO Gene-Phenotype Associations

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

abnormal tail length Gene Set

From MPO Gene-Phenotype Associations

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

abnormal tail pigmentation Gene Set

From MPO Gene-Phenotype Associations

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

vestigial tail Gene Set

From MPO Gene-Phenotype Associations

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

kinked tail Gene Set

From MPO Gene-Phenotype Associations

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

abnormal tail hair pigmentation Gene Set

From MPO Gene-Phenotype Associations

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

small tail bud Gene Set

From MPO Gene-Phenotype Associations

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

long tail Gene Set

From MPO Gene-Phenotype Associations

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

abnormal tail tip morphology Gene Set

From MPO Gene-Phenotype Associations

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

straub tail Gene Set

From MPO Gene-Phenotype Associations

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

increased tail pigmentation Gene Set

From MPO Gene-Phenotype Associations

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

absent tail bud Gene Set

From MPO Gene-Phenotype Associations

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

abnormal tail bud morphology Gene Set

From MPO Gene-Phenotype Associations

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

thick tail Gene Set

From MPO Gene-Phenotype Associations

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

increased tail bud apoptosis Gene Set

From MPO Gene-Phenotype Associations

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

decreased tail pigmentation Gene Set

From MPO Gene-Phenotype Associations

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

absent tail Gene Set

From MPO Gene-Phenotype Associations

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

abnormal tail movements Gene Set

From MPO Gene-Phenotype Associations

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

tail fin cell line Gene Set

From TISSUES Text-mining Tissue Protein Expression Evidence Scores

proteins co-occuring with the tissue tail fin cell line in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores dataset.

tail bud Gene Set

From TISSUES Text-mining Tissue Protein Expression Evidence Scores

proteins co-occuring with the tissue tail bud in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores dataset.

tail fin Gene Set

From TISSUES Text-mining Tissue Protein Expression Evidence Scores

proteins co-occuring with the tissue tail fin in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores dataset.

tail muscle Gene Set

From TISSUES Text-mining Tissue Protein Expression Evidence Scores

proteins co-occuring with the tissue tail muscle in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores dataset.

tail Gene Set

From TISSUES Text-mining Tissue Protein Expression Evidence Scores

proteins co-occuring with the tissue tail in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores dataset.

Tail-Biting Gene Set

From DisGeNET Gene-Disease Associations

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

Sperm Tail Anomaly Gene Set

From DisGeNET Gene-Phenotype Associations

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

Tiger Tail Banding Gene Set

From DisGeNET Gene-Phenotype Associations

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

nuclear-transcribed mRNA poly(A) tail shortening Gene Set

From GO Biological Process Annotations 2023

genes participating in the nuclear-transcribed mRNA poly(A) tail shortening biological process from the curated GO Biological Process Annotations 2023 dataset.

positive regulation of nuclear-transcribed mRNA poly(A) tail shortening Gene Set

From GO Biological Process Annotations 2023

genes participating in the positive regulation of nuclear-transcribed mRNA poly(A) tail shortening biological process from the curated GO Biological Process Annotations 2023 dataset.

tail-anchored membrane protein insertion into ER membrane Gene Set

From GO Biological Process Annotations 2023

genes participating in the tail-anchored membrane protein insertion into ER membrane biological process from the curated GO Biological Process Annotations 2023 dataset.

negative regulation of nuclear-transcribed mRNA poly(A) tail shortening Gene Set

From GO Biological Process Annotations 2023

genes participating in the negative regulation of nuclear-transcribed mRNA poly(A) tail shortening biological process from the curated GO Biological Process Annotations 2023 dataset.

regulation of nuclear-transcribed mRNA poly(A) tail shortening Gene Set

From GO Biological Process Annotations 2023

genes participating in the regulation of nuclear-transcribed mRNA poly(A) tail shortening biological process from the curated GO Biological Process Annotations 2023 dataset.

myosin tail binding Gene Set

From GO Molecular Function Annotations 2023

genes performing the myosin tail binding molecular function from the curated GO Molecular Function Annotations 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.

thin tail Gene Set

From MGI Mouse Phenotype Associations 2023

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

abnormal tail bud morphology Gene Set

From MGI Mouse Phenotype Associations 2023

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

curly tail Gene Set

From MGI Mouse Phenotype Associations 2023

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

abnormal tail morphology Gene Set

From MGI Mouse Phenotype Associations 2023

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

small tail bud Gene Set

From MGI Mouse Phenotype Associations 2023

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

kinked tail Gene Set

From MGI Mouse Phenotype Associations 2023

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

hairless tail Gene Set

From MGI Mouse Phenotype Associations 2023

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

abnormal tail position or orientation Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the abnormal tail position or orientation phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

thick tail Gene Set

From MGI Mouse Phenotype Associations 2023

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

non-pigmented tail tip Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the non-pigmented tail tip phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

abnormal tail development Gene Set

From MGI Mouse Phenotype Associations 2023

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

absent tail Gene Set

From MGI Mouse Phenotype Associations 2023

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

abnormal tail movements Gene Set

From MGI Mouse Phenotype Associations 2023

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

vestigial tail Gene Set

From MGI Mouse Phenotype Associations 2023

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

increased tail pigmentation Gene Set

From MGI Mouse Phenotype Associations 2023

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

long tail Gene Set

From MGI Mouse Phenotype Associations 2023

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

abnormal tail ring morphology Gene Set

From MGI Mouse Phenotype Associations 2023

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

tail telangiectases Gene Set

From MGI Mouse Phenotype Associations 2023

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

enlarged tail bud Gene Set

From MGI Mouse Phenotype Associations 2023

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

tail dragging Gene Set

From MGI Mouse Phenotype Associations 2023

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

decreased tail pigmentation Gene Set

From MGI Mouse Phenotype Associations 2023

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

tail necrosis Gene Set

From MGI Mouse Phenotype Associations 2023

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

increased tail bud apoptosis Gene Set

From MGI Mouse Phenotype Associations 2023

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

abnormal tail pigmentation Gene Set

From MGI Mouse Phenotype Associations 2023

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

absent tail bud Gene Set

From MGI Mouse Phenotype Associations 2023

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

abnormal tail length Gene Set

From MGI Mouse Phenotype Associations 2023

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

bifurcated tail Gene Set

From MGI Mouse Phenotype Associations 2023

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

wavy tail Gene Set

From MGI Mouse Phenotype Associations 2023

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

abnormal tail tip morphology Gene Set

From MGI Mouse Phenotype Associations 2023

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

straub tail Gene Set

From MGI Mouse Phenotype Associations 2023

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

truncated tail bud Gene Set

From MGI Mouse Phenotype Associations 2023

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

abnormal tail hair pigmentation Gene Set

From MGI Mouse Phenotype Associations 2023

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

abnormal tail morphology Gene Set

From IMPC Knockout Mouse Phenotypes

gene knockouts causing the abnormal tail morphology phenotype in mic from the IMPC Knockout Mouse Phenotypes dataset.

abnormal tail bud morphology Gene Set

From IMPC Knockout Mouse Phenotypes

gene knockouts causing the abnormal tail bud morphology phenotype in mic from the IMPC Knockout Mouse Phenotypes dataset.

abnormal tail length Gene Set

From IMPC Knockout Mouse Phenotypes

gene knockouts causing the abnormal tail length phenotype in mic from the IMPC Knockout Mouse Phenotypes dataset.

Insertion of tail-anchored proteins into the endoplasmic reticulum membrane Gene Set

From Reactome Pathways 2024

proteins participating in the Insertion of tail-anchored proteins into the endoplasmic reticulum membrane pathway from the Reactome Pathways 2024 dataset.

nuclear-transcribed mRNA poly(A) tail shortening Gene Set

From GO Biological Process Annotations 2025

genes participating in the nuclear-transcribed mRNA poly(A) tail shortening biological process from the curated GO Biological Process Annotations 2025 dataset.

positive regulation of nuclear-transcribed mRNA poly(A) tail shortening Gene Set

From GO Biological Process Annotations 2025

genes participating in the positive regulation of nuclear-transcribed mRNA poly(A) tail shortening biological process from the curated GO Biological Process Annotations 2025 dataset.

tail-anchored membrane protein insertion into ER membrane Gene Set

From GO Biological Process Annotations 2025

genes participating in the tail-anchored membrane protein insertion into ER membrane biological process from the curated GO Biological Process Annotations 2025 dataset.

negative regulation of nuclear-transcribed mRNA poly(A) tail shortening Gene Set

From GO Biological Process Annotations 2025

genes participating in the negative regulation of nuclear-transcribed mRNA poly(A) tail shortening biological process from the curated GO Biological Process Annotations 2025 dataset.

regulation of nuclear-transcribed mRNA poly(A) tail shortening Gene Set

From GO Biological Process Annotations 2025

genes participating in the regulation of nuclear-transcribed mRNA poly(A) tail shortening biological process from the curated GO Biological Process Annotations 2025 dataset.

myosin tail binding Gene Set

From GO Molecular Function Annotations 2025

genes performing the myosin tail binding molecular function from the curated GO Molecular Function Annotations 2025 dataset.

Tail bud Gene Set

From TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025

proteins co-occuring with the tissue Tail bud in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 dataset.

Tail fin cell line Gene Set

From TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025

proteins co-occuring with the tissue Tail fin cell line in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 dataset.

Tail Gene Set

From TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025

proteins co-occuring with the tissue Tail in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 dataset.

Tail fin Gene Set

From TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025

proteins co-occuring with the tissue Tail fin in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 dataset.

Tail muscle Gene Set

From TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025

proteins co-occuring with the tissue Tail muscle in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 dataset.

Sperm head-tail coupling apparatus Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores 2025

proteins localized to the Sperm head-tail coupling apparatus cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.

Sperm head-tail coupling apparatus Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025

proteins co-occuring with the Sperm head-tail coupling apparatus cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.

Hippocampal tail volume (corrected for total hippocampal volume) Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Hippocampal tail volume (corrected for total hippocampal volume) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Hippocampal tail volume Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Hippocampal tail volume phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

ABO BLOOD GROUP SYSTEM, B(A) PHENOTYPE Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the ABO BLOOD GROUP SYSTEM, B(A) PHENOTYPE phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

MEN2 phenotype: Unclassified Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the MEN2 phenotype: Unclassified phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

p phenotype Gene Set

From ClinVar Gene-Phenotype Associations

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

MEN2 phenotype: Unknown:Multiple endocrine neoplasia, type 2a Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the MEN2 phenotype: Unknown:Multiple endocrine neoplasia, type 2a phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Bombay phenotype Gene Set

From ClinVar Gene-Phenotype Associations

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

Para-bombay phenotype Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Para-bombay phenotype phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Antley-Bixler Syndrome Phenotype Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Antley-Bixler Syndrome Phenotype from the curated CTD Gene-Disease Associations dataset.

large cell carcinoma with rhabdoid phenotype Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

genes co-occuring with the disease large cell carcinoma with rhabdoid phenotype in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

clinically distinct charcot-marie-tooth phenotype Gene Set

From GAD Gene-Disease Associations

genes associated with the disease clinically distinct charcot-marie-tooth phenotype in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

cyp2d7/cyp2d6 poor metabolizer phenotype. Gene Set

From GAD Gene-Disease Associations

genes associated with the disease cyp2d7/cyp2d6 poor metabolizer phenotype. in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

glioma; noonan syndrome; turner's phenotype, karyotype normal Gene Set

From GAD Gene-Disease Associations

genes associated with the disease glioma; noonan syndrome; turner's phenotype, karyotype normal in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

mild phenotype xeroderma pigmentosum Gene Set

From GAD Gene-Disease Associations

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

severe desmoid phenotype Gene Set

From GAD Gene-Disease Associations

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

articulation disorders; dyslexia, acquired; language disorders; noonan syndrome; turner's phenotype, karyotype normal Gene Set

From GAD Gene-Disease Associations

genes associated with the disease articulation disorders; dyslexia, acquired; language disorders; noonan syndrome; turner's phenotype, karyotype normal in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

attention deficit hyperactivity disorder-like phenotype Gene Set

From GAD Gene-Disease Associations

genes associated with the disease attention deficit hyperactivity disorder-like phenotype in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

tanning phenotype Gene Set

From GAD Gene-Disease Associations

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

thiopurine s-methyltransferase phenotype Gene Set

From GAD Gene-Disease Associations

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

thiopurine methyltransferase phenotype Gene Set

From GAD Gene-Disease Associations

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

il-1 receptor antagonist phenotype/metabolic traits Gene Set

From GAD Gene-Disease Associations

genes associated with the disease il-1 receptor antagonist phenotype/metabolic traits in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

cyp2a6 phenotype Gene Set

From GAD Gene-Disease Associations

genes associated with the disease cyp2a6 phenotype in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

il-1 receptor antagonst phenotype/metabolic traits Gene Set

From GAD Gene-Disease Associations

genes associated with the disease il-1 receptor antagonst phenotype/metabolic traits in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

cardiomyopathy, hypertrophic; hypertrophic cardiomyopathy; noonan syndrome; pulmonary valve stenosis; syndrome; turner's phenotype, karyotype normal Gene Set

From GAD Gene-Disease Associations

genes associated with the disease cardiomyopathy, hypertrophic; hypertrophic cardiomyopathy; noonan syndrome; pulmonary valve stenosis; syndrome; turner's phenotype, karyotype normal in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

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.

classical ocular phenotype Gene Set

From GAD Gene-Disease Associations

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

cyp2d6 poor metabolizer phenotype Gene Set

From GAD Gene-Disease Associations

genes associated with the disease cyp2d6 poor metabolizer phenotype in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

cyp2d6 poor metabolizer phenotype. Gene Set

From GAD Gene-Disease Associations

genes associated with the disease cyp2d6 poor metabolizer phenotype. in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

spinal muscular atrophy phenotype Gene Set

From GAD Gene-Disease Associations

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

leber congenital amaurosis and a normal ocular phenotype Gene Set

From GAD Gene-Disease Associations

genes associated with the disease leber congenital amaurosis and a normal ocular phenotype in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

marfan phenotype Gene Set

From GAD Gene-Disease Associations

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

cyp2a6 poor metabolizer phenotype Gene Set

From GAD Gene-Disease Associations

genes associated with the disease cyp2a6 poor metabolizer phenotype in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

phenotype Gene Set

From GeneRIF Biological Term Annotations

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

Reduced growth phenotype protein 1 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Reduced growth phenotype protein 1 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

nervous system phenotype Gene Set

From MPO Gene-Phenotype Associations

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

integument phenotype Gene Set

From MPO Gene-Phenotype Associations

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

other aberrant phenotype Gene Set

From MPO Gene-Phenotype Associations

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

mammalian phenotype Gene Set

From MPO Gene-Phenotype Associations

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

homeostasis/metabolism phenotype Gene Set

From MPO Gene-Phenotype Associations

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

respiratory system phenotype Gene Set

From MPO Gene-Phenotype Associations

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

cellular phenotype Gene Set

From MPO Gene-Phenotype Associations

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

cardiovascular system phenotype Gene Set

From MPO Gene-Phenotype Associations

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

vision/eye phenotype Gene Set

From MPO Gene-Phenotype Associations

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

taste/olfaction phenotype Gene Set

From MPO Gene-Phenotype Associations

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

renal/urinary system phenotype Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the renal/urinary system phenotype phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

craniofacial phenotype Gene Set

From MPO Gene-Phenotype Associations

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

reproductive system phenotype Gene Set

From MPO Gene-Phenotype Associations

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

no abnormal phenotype detected Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the no abnormal phenotype detected phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

hearing/vestibular/ear phenotype Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the hearing/vestibular/ear phenotype phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

growth/size/body phenotype Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the growth/size/body phenotype phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

digestive/alimentary phenotype Gene Set

From MPO Gene-Phenotype Associations

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

endocrine/exocrine gland phenotype Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the endocrine/exocrine gland phenotype phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

adipose tissue phenotype Gene Set

From MPO Gene-Phenotype Associations

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

behavior/neurological phenotype Gene Set

From MPO Gene-Phenotype Associations

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

immune system phenotype Gene Set

From MPO Gene-Phenotype Associations

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

other phenotype Gene Set

From MPO Gene-Phenotype Associations

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

liver/biliary system phenotype Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the liver/biliary system phenotype phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

muscle phenotype Gene Set

From MPO Gene-Phenotype Associations

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

skeleton phenotype Gene Set

From MPO Gene-Phenotype Associations

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

normal phenotype Gene Set

From MPO Gene-Phenotype Associations

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

pigmentation phenotype Gene Set

From MPO Gene-Phenotype Associations

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

embryogenesis phenotype Gene Set

From MPO Gene-Phenotype Associations

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

hematopoietic system phenotype Gene Set

From MPO Gene-Phenotype Associations

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

turner syndrome-associated neurocognitive phenotype Gene Set

From OMIM Gene-Disease Associations

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

[blood group, p1pk system, p phenotype] Gene Set

From OMIM Gene-Disease Associations

genes associated with the [blood group, p1pk system, p phenotype] phenotype from the curated OMIM Gene-Disease Associations dataset.

[blood group, p1pk system, p(k) phenotype] Gene Set

From OMIM Gene-Disease Associations

genes associated with the [blood group, p1pk system, p(k) phenotype] phenotype from the curated OMIM Gene-Disease Associations dataset.

adult i phenotype without cataract Gene Set

From OMIM Gene-Disease Associations

genes associated with the adult i phenotype without cataract phenotype from the curated OMIM Gene-Disease Associations dataset.

[bombay phenotype] Gene Set

From OMIM Gene-Disease Associations

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

[blood group, p1pk system, p(2) phenotype] Gene Set

From OMIM Gene-Disease Associations

genes associated with the [blood group, p1pk system, p(2) phenotype] phenotype from the curated OMIM Gene-Disease Associations dataset.

cataract 13 with adult i phenotype Gene Set

From OMIM Gene-Disease Associations

genes associated with the cataract 13 with adult i phenotype phenotype from the curated OMIM Gene-Disease Associations dataset.

Senescence-Associated Secretory Phenotype (SASP) Gene Set

From Reactome Pathways 2014

proteins participating in the Senescence-Associated Secretory Phenotype (SASP) pathway from the Reactome Pathways dataset.

Mixed Phenotype Acute Leukemia Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Mixed Phenotype Acute Leukemia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Broad Autism Phenotype Gene Set

From DisGeNET Gene-Disease Associations

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

Mixed Phenotype Acute Leukemia T/Myeloid Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Mixed Phenotype Acute Leukemia T/Myeloid in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Antley-Bixler Syndrome Phenotype Gene Set

From DisGeNET Gene-Disease Associations

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

Fibrinogen Milano Xii, Digenic Phenotype Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Fibrinogen Milano Xii, Digenic Phenotype in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Adult I Blood Group Phenotype Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Adult I Blood Group Phenotype in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Duffy Blood Group System, Fy(A-B-) Phenotype Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Duffy Blood Group System, Fy(A-B-) Phenotype in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Duffy Blood Group System, Fy(Bwk) Phenotype Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Duffy Blood Group System, Fy(Bwk) Phenotype in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Replication Error Phenotype Gene Set

From DisGeNET Gene-Phenotype Associations

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

Albumin B Phenotype Gene Set

From DisGeNET Gene-Phenotype Associations

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

Albumin Blenheim Phenotype Gene Set

From DisGeNET Gene-Phenotype Associations

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

Apolipopropretin A-I Phenotype Gene Set

From DisGeNET Gene-Phenotype Associations

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

Apolipoprotein A-Iv Polymorphism, Apoa4*1/Apoa4*2 Phenotype Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Apolipoprotein A-Iv Polymorphism, Apoa4*1/Apoa4*2 Phenotype in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Apolipoprotein C-Ii (Wakayama) Phenotype Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Apolipoprotein C-Ii (Wakayama) Phenotype in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Apolipoprotein C-Ii Phenotype Gene Set

From DisGeNET Gene-Phenotype Associations

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

Apolipoprotein C-Iii, Nonglycosylated Phenotype Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Apolipoprotein C-Iii, Nonglycosylated Phenotype in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Apoe2 Variant Phenotype Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Apoe2 Variant Phenotype in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Apoe2-Dunedin Phenotype Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Apoe2-Dunedin Phenotype in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Apoe3(-)-Freiburg Phenotype Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Apoe3(-)-Freiburg Phenotype in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Apoe4 Variant Phenotype Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Apoe4 Variant Phenotype in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Apoe4(+) Phenotype Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Apoe4(+) Phenotype in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Colton-Null Phenotype Gene Set

From DisGeNET Gene-Phenotype Associations

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

Bche, Fluoride 2 Phenotype Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Bche, Fluoride 2 Phenotype in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Bche, H Variant Phenotype Gene Set

From DisGeNET Gene-Phenotype Associations

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

Bche, J Variant Phenotype Gene Set

From DisGeNET Gene-Phenotype Associations

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

Cromer Blood Group System, Dr(A-) Phenotype Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Cromer Blood Group System, Dr(A-) Phenotype in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Ceruloplasmin Belfast Phenotype Gene Set

From DisGeNET Gene-Phenotype Associations

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

Scianna Blood Group System, Sc:-1,-2 Phenotype Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Scianna Blood Group System, Sc:-1,-2 Phenotype in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Factor Xii (Locarno) Phenotype Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Factor Xii (Locarno) Phenotype in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Prothrombin Type 3 Phenotype Gene Set

From DisGeNET Gene-Phenotype Associations

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

Factor V Hong Kong Phenotype Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Factor V Hong Kong Phenotype in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Factor Viii (East Hartford) Phenotype Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Factor Viii (East Hartford) Phenotype in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Factor Viii (Okayama) Phenotype Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Factor Viii (Okayama) Phenotype in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Fibrinogen Dusart Phenotype Gene Set

From DisGeNET Gene-Phenotype Associations

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

Bombay Phenotype Gene Set

From DisGeNET Gene-Phenotype Associations

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

G6Pd Tomah Phenotype Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype G6Pd Tomah Phenotype in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Gerbich Blood Group System, Gerbich Phenotype Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Gerbich Blood Group System, Gerbich Phenotype in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Hemoglobin Evanston Phenotype Gene Set

From DisGeNET Gene-Phenotype Associations

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

Hemoglobin Aubenas Phenotype Gene Set

From DisGeNET Gene-Phenotype Associations

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

Hemoglobin C Phenotype Gene Set

From DisGeNET Gene-Phenotype Associations

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

Hemoglobin Gambara Phenotype Gene Set

From DisGeNET Gene-Phenotype Associations

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

Hemoglobin Houston Phenotype Gene Set

From DisGeNET Gene-Phenotype Associations

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

Hemoglobin Saint Etienne Phenotype Gene Set

From DisGeNET Gene-Phenotype Associations

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

Hemoglobin Tubingen Phenotype Gene Set

From DisGeNET Gene-Phenotype Associations

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

Hexa, Czechoslovakian Allele Phenotype Gene Set

From DisGeNET Gene-Phenotype Associations

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

Abnormal Cellular Phenotype Gene Set

From DisGeNET Gene-Phenotype Associations

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

In(Lu) Phenotype (Finding) Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype In(Lu) Phenotype (Finding) in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Lipoprotein Lipase (Olbia) Phenotype Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Lipoprotein Lipase (Olbia) Phenotype in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Lpl-Arita Phenotype Gene Set

From DisGeNET Gene-Phenotype Associations

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

Protein S Heerlen Phenotype Gene Set

From DisGeNET Gene-Phenotype Associations

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

Antichymotrypsin Bochum 1 Phenotype Gene Set

From DisGeNET Gene-Phenotype Associations

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

Swann Blood Group Antigen Phenotype Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Swann Blood Group Antigen Phenotype in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Von Willebrand Factor Vicenza Phenotype Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Von Willebrand Factor Vicenza Phenotype in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

no abnormal phenotype detected Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the no abnormal phenotype detected phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

cardiovascular system phenotype Gene Set

From MGI Mouse Phenotype Associations 2023

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

nervous system phenotype Gene Set

From MGI Mouse Phenotype Associations 2023

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

respiratory system phenotype Gene Set

From MGI Mouse Phenotype Associations 2023

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

immune system phenotype Gene Set

From MGI Mouse Phenotype Associations 2023

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

endocrine/exocrine gland phenotype Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the endocrine/exocrine gland phenotype phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

digestive/alimentary phenotype Gene Set

From MGI Mouse Phenotype Associations 2023

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

reproductive system phenotype Gene Set

From MGI Mouse Phenotype Associations 2023

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

growth/size/body region phenotype Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the growth/size/body region phenotype phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

homeostasis/metabolism phenotype Gene Set

From MGI Mouse Phenotype Associations 2023

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

hematopoietic system phenotype Gene Set

From MGI Mouse Phenotype Associations 2023

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

skeleton phenotype Gene Set

From MGI Mouse Phenotype Associations 2023

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

integument phenotype Gene Set

From MGI Mouse Phenotype Associations 2023

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

cellular phenotype Gene Set

From MGI Mouse Phenotype Associations 2023

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

vision/eye phenotype Gene Set

From MGI Mouse Phenotype Associations 2023

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

behavior/neurological phenotype Gene Set

From MGI Mouse Phenotype Associations 2023

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

embryo phenotype Gene Set

From MGI Mouse Phenotype Associations 2023

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

hearing/vestibular/ear phenotype Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the hearing/vestibular/ear phenotype phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

cardiovascular system phenotype Gene Set

From IMPC Knockout Mouse Phenotypes

gene knockouts causing the cardiovascular system phenotype phenotype in mic from the IMPC Knockout Mouse Phenotypes dataset.

immune system phenotype Gene Set

From IMPC Knockout Mouse Phenotypes

gene knockouts causing the immune system phenotype phenotype in mic from the IMPC Knockout Mouse Phenotypes dataset.

respiratory system phenotype Gene Set

From IMPC Knockout Mouse Phenotypes

gene knockouts causing the respiratory system phenotype phenotype in mic from the IMPC Knockout Mouse Phenotypes dataset.

Memory-phenotype CD8+ T cell(CD8-MP cell)_Lymph_Mouse Gene Set

From CellMarker Gene-Cell Type Associations

genes associated with the Memory-phenotype CD8+ T cell(CD8-MP cell)_Lymph_Mouse cell type from the CellMarker Gene-Cell Type Associations dataset.

Senescence associated secretory phenotype SASP Gene Set

From WikiPathways Pathways 2024

proteins participating in the Senescence associated secretory phenotype SASP pathway from the WikiPathways Pathways 2024 dataset.

Senescence-Associated Secretory Phenotype (SASP) Gene Set

From Reactome Pathways 2024

proteins participating in the Senescence-Associated Secretory Phenotype (SASP) pathway from the Reactome Pathways 2024 dataset.

Mixed phenotype acute leukemia, T/myeloid Gene Set

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

genes co-occuring with the disease Mixed phenotype acute leukemia, T/myeloid in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Mixed phenotype acute leukemia, B/myeloid Gene Set

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

genes co-occuring with the disease Mixed phenotype acute leukemia, B/myeloid in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Large cell carcinoma with rhabdoid phenotype Gene Set

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

genes co-occuring with the disease Large cell carcinoma with rhabdoid phenotype in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Cataract 13 with adult i phenotype Gene Set

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

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

Cardiovascular phenotype Gene Set

From ClinVar Gene-Phenotype Associations 2025

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

LuLu phenotype Gene Set

From ClinVar Gene-Phenotype Associations 2025

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

P phenotype Gene Set

From ClinVar Gene-Phenotype Associations 2025

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

Bombay phenotype Gene Set

From ClinVar Gene-Phenotype Associations 2025

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

DUFFY BLOOD GROUP SYSTEM, FY(bwk) PHENOTYPE Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the DUFFY BLOOD GROUP SYSTEM, FY(bwk) PHENOTYPE phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Autosomal recessive AGK-related phenotype Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Autosomal recessive AGK-related phenotype phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Cataract 13 with adult I phenotype Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Cataract 13 with adult I phenotype phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Emm-null phenotype Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Emm-null phenotype phenotype from the curated ClinVar Gene-Phenotype Associations 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.

Response to lithium treatment in bipolar disorder (continuous phenotype) Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Response to lithium treatment in bipolar disorder (continuous phenotype) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Response to lithium treatment in bipolar disorder (dichotomous phenotype) Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Response to lithium treatment in bipolar disorder (dichotomous phenotype) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Periodontal disease-related phenotype (Socransky) Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Periodontal disease-related phenotype (Socransky) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Periodontal disease related phenotype (PCT3) Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Periodontal disease related phenotype (PCT3) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Periodontal disease related phenotype (PCT5) Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Periodontal disease related phenotype (PCT5) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Pediatric areal bone mineral density (concordant skeletal phenotype) Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Pediatric areal bone mineral density (concordant skeletal phenotype) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Pediatric areal bone mineral density (radius vs spine & hip discordant skeletal phenotype) Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Pediatric areal bone mineral density (radius vs spine & hip discordant skeletal phenotype) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Pediatric areal bone mineral density (spine vs radius & hip discordant skeletal phenotype) Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Pediatric areal bone mineral density (spine vs radius & hip discordant skeletal phenotype) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.