Harmonizome 3.0

From Hub Proteins

Sets of proteins interacting with hub proteins aggregated from data

From Nuclear Receptor Signaling Atlas

Protein-protein interactions inferred from membership in complexes

From Pathway Commons

Protein-protein interactions from low-throughput or high-throughput studies aggregated by Pathway Commons from the following databases: Reactome, NCI Pathways, PhosphoSite, HumanCyc, HPRD, PANTHER, DIP, BioGRID, IntAct, BIND, Transfac, MiRTarBase, Drugbank, Recon X, Comparative Toxicogenomics Database, and KEGG

From Virus MINT

Interactions between viral and human proteins manually curated from literature

From COMPARTMENTS

Protein subcellular localization evidence scores by manual literature curation

From COMPARTMENTS

Protein subcellular localization evidence scores by integrating experimental data

From COMPARTMENTS

Gene-cellular compartment co-occurrence scores from text-mining biomedical abstracts

From CORUM

Proteins participating in complexes by manual literature curation

From Guide to Pharmacology

Protein ligand-receptor interactions curated by experts

From Human Protein Atlas

Semiquantitative protein expression profiles for tissues

From Human Proteome Map

Protein expression profiles for tissues and cell types

From InterPro

Protein domains predicted for gene products based on sequence similarity to known domain signatures

From LOCATE

Subcellular localization of proteins from low-throughput or high-throughput protein localization assays

From Nuclear Receptor Signaling Atlas

Proteins identified in complexes isolated from cultured cells

From Proteomics Database

Protein expression profiles for tissues and cell types reprocessed from many proteomics datasets

From SILAC Phosphoproteomics

Phosphorylation levels of proteins in cell lines following ligand treatment

From TISSUES

Protein tissue expression evidence scores by manual literature curation

From TISSUES

Protein tissue expression evidence scores by integrating experimental data

From TISSUES

Gene-tissue co-occurrence scores from text-mining biomedical abstracts

From Virus MINT

Interactions between viruses and human proteins manually curated from literature

From LOCATE

Subcellular localization of proteins by sequence similarity to localization sequences

From TISSUES

Protein tissue expression evidence scores by manual literature curation

From TISSUES

Protein tissue expression evidence scores by integrating experimental data

From TISSUES

Gene-tissue co-occurrence scores from text-mining biomedical abstracts

From COMPARTMENTS

Protein subcellular localization evidence scores by manual literature curation

From COMPARTMENTS

Protein subcellular localization evidence scores by integrating experimental data

From COMPARTMENTS

Gene-cellular compartment co-occurrence scores from text-mining biomedical abstracts

From Cell Maps for AI

Protein localization assemblies constructed from integrating AP-MS biomolecular interaction and IF imaging data

From Human Protein Atlas

RNA-seq gene expression profiles for cell lines from HPA

From Human Protein Atlas

RNA-seq gene expression profiles for tissues from HPA

From Human Protein Atlas

RNA-seq gene expression profiles for tissue samples from HPA

DiGeorge syndrome/velocardiofacial syndrome complex 2

Treacher Collins-Franceschetti syndrome 1

This gene encodes a nucleolar protein with a LIS1 homology domain. The protein is involved in ribosomal DNA gene transcription through its interaction with upstream binding factor (UBF). Mutations in this gene have been associated with Treacher Collins syndrome, a disorder which includes abnormal craniofacial development. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2008]

Craniosynostosis, anal anomalies, and porokeratosis syndrome

polled intersex syndrome regulated transcript 1 (non-protein coding RNA)

spastic paraplegia 21 (autosomal recessive, Mast syndrome)

The protein encoded by this gene binds to the hydrophobic C-terminal amino acids of CD4 which are involved in repression of T cell activation. The interaction with CD4 is mediated by the noncatalytic alpha/beta hydrolase fold domain of this protein. It is thus proposed that this gene product modulates the stimulatory activity of CD4. Mutations in this gene are associated with autosomal recessive spastic paraplegia 21 (SPG21), also known as mast syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2014]

Frias syndrome

Mesomelia-synostoses syndrome

Renpenning syndrome 2

Chromosome 5p13 duplication syndrome

Usher syndrome 3B

Asperger syndrome, susceptibility to, 2

Asperger syndrome, susceptibility to, 3

Asperger syndrome, susceptibility to, 4

Mungan syndrome

Forsythe-Wakeling syndrome

Chromosome 15q26-qter deletion syndrome

Sjogren syndrome/scleroderma autoantigen 1

This antigen is recognized by a subset of anti-centromere antibodies from patients with scleroderma and/or Sjogren's syndrome. Subcellular localization has not yet been established. [provided by RefSeq, Jul 2008]

spastic paraplegia 20 (Troyer syndrome)

This gene encodes a protein containing a MIT (Microtubule Interacting and Trafficking molecule) domain, and is implicated in regulating endosomal trafficking and mitochondria function. The protein localizes to mitochondria and partially co-localizes with microtubules. Stimulation with epidermal growth factor (EGF) results in protein translocation to the plasma membrane, and the protein functions in the degradation and intracellular trafficking of EGF receptor. Multiple alternatively spliced variants, encoding the same protein, have been identified. Mutations associated with this gene cause autosomal recessive spastic paraplegia 20 (Troyer syndrome). [provided by RefSeq, Nov 2008]

Jacobsen syndrome

Waardenburg syndrome, type 2B

Waardenburg syndrome, type IIC

Abidi X-linked mental retardation syndrome

Wolf-Hirschhorn syndrome candidate 1

This gene encodes a protein that contains four domains present in other developmental proteins: a PWWP domain, an HMG box, a SET domain, and a PHD-type zinc finger. It is expressed ubiquitously in early development. Wolf-Hirschhorn syndrome (WHS) is a malformation syndrome associated with a hemizygous deletion of the distal short arm of chromosome 4. This gene maps to the 165 kb WHS critical region and has also been involved in the chromosomal translocation t(4;14)(p16.3;q32.3) in multiple myelomas. Alternative splicing of this gene results in multiple transcript variants encoding different isoforms. Some transcript variants are nonsense-mediated mRNA (NMD) decay candidates, hence not represented as reference sequences. [provided by RefSeq, Jul 2008]

Cohen syndrome QTL 1

Abdominal obesity-metabolic syndrome QTL1

abdominal obesity-metabolic syndrome QTL2

Down syndrome chromosome region

Down syndrome, also known as trisomy 21, is the most frequent form of cognitive disability caused by a microscopically demonstrable chromosomal aberration. It is caused by a third copy (trisomy) of all or a critical portion of chromosome 21. Down syndrome is characterized by physical growth delays, dysmorphic facial features, heart and gastrointestinal disorders, and mild to moderate cognitive disability. [provided by RefSeq, Jul 2017]

Xp11.22 microduplication syndrome

Chromosome 15q11.2 deletion syndrome

Osler-Rendu-Weber syndrome 3

Chromosome 1q42-q44 deletion syndrome

Opitz G syndrome, type II

This disorder, variously named the G, Opitz-G, or BBB syndrome, includes hypertelorism or telecanthus; laryngotracheoesophageal cleft; clefts of lip, palate, and uvula; swallowing difficulty and hoarse cry; genitourinary defects, especially hypospadias in males and splayed labia majora in females; mental retardation; and congenital heart defects.[supplied by OMIM, Jul 2002]

Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1

The exact function of this gene is not known, however, submicroscopic deletion of the X chromosome including this gene, COL4A5, and FACL4 genes, result in a contiguous gene deletion syndrome, the AMME complex (Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis). Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2010]

Tukel syndrome

pregnancy-induced hypertension syndrome-related protein

Chromosome Xq26.3 duplication syndrome

wiskott-Aldrich syndrome protein homolog

alpha-thalassemia/mental retardation syndrome, type 1

Nablus mask-like facial syndrome

Chromosome 16p11.2 deletion syndrome, 220kb

Sertoli cell-only syndrome, Y-linked

Chromosome 19p13.13 deletion syndrome

3p- syndrome

Chromosome 4q32.1-q32.2 triplication syndrome

Chromosome 3q13.31 deletion syndrome

Chromosome 15q25 deletion syndrome

Sjogren syndrome antigen B (autoantigen La)

The protein encoded by this gene is involved in diverse aspects of RNA metabolism, including binding and protecting poly(U) termini of nascent RNA polymerase III transcripts from exonuclease digestion, processing 5' and 3' ends of pre-tRNA precursors, acting as an RNA chaperone, and binding viral RNAs associated with hepatitis C virus. Autoantibodies reacting with this protein are found in the sera of patients with Sjogren syndrome and systemic lupus erythematosus. Alternative promoter usage results in two different transcript variants which encode the same protein. [provided by RefSeq, Jun 2014]

Chromosome Xp21 deletion syndrome

Chromosome 17q12 deletion syndrome

Ehlers-Danlos syndrome, type VIII

Sjoegren syndrome nuclear autoantigen 1 homolog

Down syndrome critical region 8

Down syndrome critical region 3

The region of chromosome 21 between genes CBR and ERG (CBR-ERG region), which spans 2.5 Mb on 21q22.2, has been defined by analysis of patients with partial trisomy 21. It contributes significantly to the pathogenesis of many characteristics of Down syndrome, including morphological features, hypotonia, and cognitive disability. The DSCR3 (Down syndrome critical region gene 3) gene is found in this region and is predictated to contain eight exons. DSCR3 is expressed in most tissues examined. [provided by RefSeq, Jul 2008]

Myelodysplasia and leukemia syndrome with monosomy 7

Alstrom syndrome protein 1

This gene encodes a protein containing a large tandem-repeat domain as well as additional low complexity regions. The encoded protein functions in microtubule organization, particularly in the formation and maintanance of cilia. Mutations in this gene cause Alstrom syndrome. There is a pseudogene for this gene located adjacent in the same region of chromosome 2. Alternative splice variants have been described but their full length nature has not been determined. [provided by RefSeq, Apr 2014]

Myeloproliferative syndrome, transient (transient abnormal

Wolf-Hirschhorn syndrome chromosome region

Wolf-Hirschhorn syndrome is a congenital malformation syndrome characterized by pre- and postnatal growth deficiency, developmental disability of variable degree, characteristic craniofacial features ('Greek warrior helmet' appearance of the nose, high forehead, prominent glabella, hypertelorism, high-arched eyebrows, protruding eyes, epicanthal folds, short philtrum, distinct mouth with downturned corners, and micrognathia), and a seizure disorder (Battaglia et al., 2008 [PubMed 18932224]).[supplied by OMIM, Nov 2010]

Chromosome 2q23.1 deletion syndrome

Wolf-Hirschhorn syndrome candidate 1-like 1

This gene is related to the Wolf-Hirschhorn syndrome candidate-1 gene and encodes a protein with PWWP (proline-tryptophan-tryptophan-proline) domains. This protein methylates histone H3 at lysine residues 4 and 27, which represses gene transcription. Two alternatively spliced variants have been described. [provided by RefSeq, May 2015]

alpha thalassemia/mental retardation syndrome X-linked

The protein encoded by this gene contains an ATPase/helicase domain, and thus it belongs to the SWI/SNF family of chromatin remodeling proteins. This protein is found to undergo cell cycle-dependent phosphorylation, which regulates its nuclear matrix and chromatin association, and suggests its involvement in the gene regulation at interphase and chromosomal segregation in mitosis. Mutations in this gene are associated with X-linked syndromes exhibiting cognitive disabilities as well as alpha-thalassemia (ATRX) syndrome. These mutations have been shown to cause diverse changes in the pattern of DNA methylation, which may provide a link between chromatin remodeling, DNA methylation, and gene expression in developmental processes. Multiple alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2017]

Chromosome 16p11.2 duplication syndrome

Multiple mitochondrial dysfunctions syndrome

Chromosome 8q21.11 deletion syndrome

Cornelia de Lange syndrome 2

Chromosome 3q29 microdeletion syndrome

Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis

DiGeorge syndrome critical region gene 9 (non-protein coding)

DiGeorge syndrome critical region gene 2

Deletions of the 22q11.2 have been associated with a wide range of developmental defects (notably DiGeorge syndrome, velocardiofacial syndrome, conotruncal anomaly face syndrome and isolated conotruncal cardiac defects) classified under the acronym CATCH 22. The DGCR2 gene encodes a novel putative adhesion receptor protein, which could play a role in neural crest cells migration, a process which has been proposed to be altered in DiGeorge syndrome. Alternative splicing results in multiple transcript variants.[provided by RefSeq, May 2010]

DiGeorge syndrome critical region gene 5 (non-protein coding)

Biomarker of Huntington's disease. [provided by Alliance of Genome Resources, Mar 2025]

DiGeorge syndrome critical region gene 7

DiGeorge syndrome critical region gene 6

DiGeorge syndrome, and more widely, the CATCH 22 syndrome, are associated with microdeletions in chromosomal region 22q11.2. The product of this gene shares homology with the Drosophila melanogaster gonadal protein, which participates in gonadal and germ cell development, and with the gamma-1 subunit of human laminin. This gene is a candidate for involvement in DiGeorge syndrome pathology and in schizophrenia. [provided by RefSeq, Nov 2008]

Chromosome 9p deletion syndrome

Levy-Shanske syndrome

albinism-deafness syndrome

glaucoma-related pigment dispersion syndrome 1

Chromosome 2q32-q33 deletion syndrome

cat eye syndrome chromosome region, candidate 5

Predicted to be involved in glycerophospholipid biosynthetic process. Located in mitochondrion. [provided by Alliance of Genome Resources, Mar 2025]

cat eye syndrome chromosome region, candidate 9 (non-protein coding)

Predicted to be located in extracellular region. [provided by Alliance of Genome Resources, Mar 2025]

neural Wiskott-Aldrich syndrome protein-like

Rieger syndrome 2

Chromosome 1q41-q42 deletion syndrome

Shwachman-Bodian-Diamond syndrome

This gene encodes a highly conserved protein that plays an essential role in ribosome biogenesis. The encoded protein interacts with elongation factor-like GTPase 1 to disassociate eukaryotic initiation factor 6 from the late cytoplasmic pre-60S ribosomal subunit allowing assembly of the 80S subunit. Mutations within this gene are associated with the autosomal recessive disorder Shwachman-Bodian-Diamond syndrome. This gene has a closely linked pseudogene that is distally located. [provided by RefSeq, Jan 2017]

Potocki-Shaffer syndrome

oculocerebrorenal syndrome of Lowe

This gene encodes an inositol polyphosphate 5-phosphatase. This protein is involved in regulating membrane trafficking and is located in numerous subcellular locations including the trans-Golgi network, clathrin-coated vesicles and, endosomes and the plasma membrane. This protein may also play a role in primary cilium formation. Mutations in this gene cause oculocerebrorenal syndrome of Lowe and also Dent disease. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]

Down syndrome critical region 3 pseudogene

polycystic ovary syndrome 1

Wolf-Hirschhorn syndrome candidate 1-like 2, pseudogene

Wilms tumor, aniridia, genitourinary anomalies and mental retardation syndrome

Williams Beuren syndrome chromosome region 27

This gene encodes a protein belonging to ubiE/COQ5 methyltransferase family. The gene is deleted in Williams syndrome, a multisystem developmental disorder caused by the deletion of contiguous genes at 7q11.22-q11.23. [provided by RefSeq, Jul 2008]

Williams-Beuren syndrome chromosome region 28

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

Chromosome 17q23.1-q23.2 duplication syndrome

FG syndrome 2

FG syndrome 3

hydrolethalus syndrome 1

This gene encodes a protein localized to the cytoplasm. Mutations in this gene are associated with hydrolethalus syndrome. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Oct 2008]

Ellis van Creveld syndrome 2

This gene encodes a protein that functions in bone formation and skeletal development. Mutations in this gene, as well as in a neighboring gene that lies in a head-to-head configuration, cause Ellis-van Creveld syndrome, an autosomal recessive skeletal dysplasia that is also known as chondroectodermal dysplasia. Mutations in this gene also cause acrofacial dysostosis Weyers type, also referred to as Curry-Hall syndrome, a disease that combines limb and facial abnormalities. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]

Asymmetric crying facies (Cayler cardiofacial syndrome)

Chromosome 6q25-q25 deletion syndrome

myasthenic (Lambert-Eaton) syndrome antigen A

Immunoneurologic syndrome X-linked, of Wood, Black, and Norbury

Chromosome 8p11 myeloproliferative syndrome

acrocallosal syndrome

Usher syndrome 1C binding protein 1

Enables PDZ domain binding activity. [provided by Alliance of Genome Resources, Mar 2025]

Sjogren syndrome antigen B pseudogene

Temple syndrome

Goldenhar syndrome

Kondoh syndrome

non imprinted in Prader-Willi/Angelman syndrome 2 pseudogene 3

non imprinted in Prader-Willi/Angelman syndrome 2 pseudogene 2

non imprinted in Prader-Willi/Angelman syndrome 2 pseudogene 1

non imprinted in Prader-Willi/Angelman syndrome 2 pseudogene 5

non imprinted in Prader-Willi/Angelman syndrome 2 pseudogene 4

Nance-Horan syndrome (congenital cataracts and dental anomalies)

This gene encodes a protein containing four conserved nuclear localization signals. The encoded protein functions in eye, tooth, craniofacial and brain development, and it can regulate actin remodeling and cell morphology. Mutations in this gene have been shown to cause Nance-Horan syndrome, and also X-linked cataract-40. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, May 2014]

Melkersson-Rosenthal syndrome

cat eye syndrome chromosome region, candidate 1

This gene encodes a member of a subfamily of the adenosine deaminase protein family. The encoded protein is one of two adenosine deaminases found in humans, which regulate levels of the signaling molecule, adenosine. The encoded protein is secreted from monocytes undergoing differentiation and may regulate cell proliferation and differentiation. This gene may be responsible for some of the phenotypic features associated with cat eye syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]

cat eye syndrome chromosome region, candidate 2

This gene encodes a bromodomain-containing protein that is involved in chromatin remodeling, and may additionally play a role in DNA damage response. The encoded protein functions as part of an ATP-dependent complex that is involved in neurulation. This gene is a candidate gene for Cat Eye Syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014]

cat eye syndrome chromosome region, candidate 3 (non-protein coding)

cat eye syndrome chromosome region, candidate 6

Chromosome Xq28 microdeletion syndrome

Alopecia-mental retardation syndrome 3

Alopecia with mental retardation syndrome 2

Alopecia-mental retardation syndrome

Cohen syndrome QTL 2

Chromosome 2q31.1 duplication syndrome

McKusick-Kaufman syndrome

This gene encodes a protein which shares sequence similarity with other members of the type II chaperonin family. The encoded protein is a centrosome-shuttling protein and plays an important role in cytokinesis. This protein also interacts with other type II chaperonin members to form a complex known as the BBSome, which involves ciliary membrane biogenesis. This protein is encoded by a downstream open reading frame (dORF). Several upstream open reading frames (uORFs) have been identified, which repress the translation of the dORF, and two of which can encode small mitochondrial membrane proteins. Mutations in this gene have been observed in patients with Bardet-Biedl syndrome type 6, also known as McKusick-Kaufman syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2023]

Chromosome 22q11.2 deletion syndrome, distal

Usher syndrome 2A (autosomal recessive, mild)

This gene encodes a protein that contains laminin EGF motifs, a pentaxin domain, and many fibronectin type III motifs. The protein is found in the basement membrane, and may be important in development and homeostasis of the inner ear and retina. Mutations within this gene have been associated with Usher syndrome type IIa and retinitis pigmentosa. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008]

myelodysplastic syndrome 2 translocation associated

Located in extracellular space. [provided by Alliance of Genome Resources, Mar 2025]

Chromosome 13q14 deletion syndrome

Chromosome 16p13.3 duplication syndrome

Chromosome 6pter deletion syndrome

Werner syndrome, RecQ helicase-like

This gene encodes a member of the RecQ subfamily of DNA helicase proteins. The encoded nuclear protein is important in the maintenance of genome stability and plays a role in DNA repair, replication, transcription and telomere maintenance. This protein contains a N-terminal 3' to 5' exonuclease domain, an ATP-dependent helicase domain and RQC (RecQ helicase conserved region) domain in its central region, and a C-terminal HRDC (helicase RNase D C-terminal) domain and nuclear localization signal. Defects in this gene are the cause of Werner syndrome, an autosomal recessive disorder characterized by accelerated aging and an elevated risk for certain cancers. [provided by RefSeq, Aug 2017]

Chromosome Xq28 duplication syndrome

Chromosome 2p12-p11.2 deletion syndrome

Ariculocondylar syndrome

Meckel syndrome, type 1

The protein encoded by this gene localizes to the basal body and is required for formation of the primary cilium in ciliated epithelial cells. Mutations in this gene result in Meckel syndrome type 1 and in Bardet-Biedl syndrome type 13. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]

DiGeorge syndrome chromosome region

DiGeorge syndrome (DGS) comprises hypocalcemia arising from parathyroid hypoplasia, thymic hypoplasia, and outflow tract defects of the heart. Disturbance of cervical neural crest migration into the derivatives of the pharyngeal arches and pouches can account for the phenotype. Most cases result from a deletion of chromosome 22q11.2 (the DiGeorge syndrome chromosome region, or DGCR). Several genes are lost including the putative transcription factor TUPLE1 which is expressed in the appropriate distribution. This deletion may present with a variety of phenotypes: Shprintzen, or velocardiofacial, syndrome (VCFS; MIM 192430); conotruncal anomaly face (or Takao syndrome); and isolated outflow tract defects of the heart including tetralogy of Fallot, truncus arteriosus, and interrupted aortic arch. A collective acronym CATCH22 has been proposed for these differing presentations. A small number of cases of DGS have defects in other chromosomes, notably 10p13 (see MIM 601362). In the mouse, a transgenic Hox A3 (Hox 1.5) knockout produces a phenotype similar to DGS as do the teratogens retinoic acid and alcohol.[supplied by OMIM, Aug 2009]

Wolf-Hirschhorn syndrome candidate 1-like 1 pseudogene

Angelman syndrome chromosome region

Angelman syndrome (AS) is characterized by developmental delay, intellectual disability, movement or balance disorders, seizures, and limitations in speech and language development. Most cases of AS are caused by deletion in the 15q11-q13 region of the maternal chromosome. Prader-Willi syndrome (PWS) is a clinically distinct disorder resulting from paternal deletion of the 15q11-q13 region. Clinical features similar to AS are also shown in chromosome 15q11-q13 duplication syndrome. [provided by RefSeq, Jul 2017]

Chromosome 2q31.2 deletion syndrome

Rajab syndrome

Chromosome 16p12.2-p11.2 deletion syndrome

Mammary-digital-nail syndrome

Chromosome 2p16.1-p15 deletion syndrome

Williams-Beuren syndrome chromosome region 17

This gene encodes an N-acetylgalactosaminyltransferase. This gene is located centromeric to the common deleted region in Williams-Beuren syndrome (WBS), a multisystem developmental disorder caused by the deletion of contiguous genes at 7q11.23. This protein may play a role in membrane trafficking. [provided by RefSeq, Jan 2013]

Chromosome 6q11-q14 deletion syndrome

Wiskott-Aldrich syndrome

The Wiskott-Aldrich syndrome (WAS) family of proteins share similar domain structure, and are involved in transduction of signals from receptors on the cell surface to the actin cytoskeleton. The presence of a number of different motifs suggests that they are regulated by a number of different stimuli, and interact with multiple proteins. Recent studies have demonstrated that these proteins, directly or indirectly, associate with the small GTPase, Cdc42, known to regulate formation of actin filaments, and the cytoskeletal organizing complex, Arp2/3. Wiskott-Aldrich syndrome is a rare, inherited, X-linked, recessive disease characterized by immune dysregulation and microthrombocytopenia, and is caused by mutations in the WAS gene. The WAS gene product is a cytoplasmic protein, expressed exclusively in hematopoietic cells, which show signalling and cytoskeletal abnormalities in WAS patients. A transcript variant arising as a result of alternative promoter usage, and containing a different 5' UTR sequence, has been described, however, its full-length nature is not known. [provided by RefSeq, Jul 2008]

mental retardation, epileptic seizures, hypogonadism and -genitalism, microcephaly and obesity syndrome

Armfield X-linked mental retardation syndrome

Lubs X-linked mental retardation syndrome

Roifman syndrome

Chromosome 22q11.2 microduplication syndrome

Down syndrome cell adhesion molecule

This gene is a member of the immunoglobulin superfamily of cell adhesion molecules (Ig-CAMs), and is involved in human central and peripheral nervous system development. This gene is a candidate for Down syndrome and congenital heart disease (DSCHD). A gene encoding a similar Ig-CAM protein is located on chromosome 11. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Oct 2012]

Catel-Manzke syndrome

ichthyosis congenita IV, ichthyosis-prematurity syndrome

Larsen-like syndrome

Chromosome 7q11.23 duplication syndrome

Brooks-Wisniewski-Brown syndrome

Moebius syndrome 1

Moebius syndrome 2

Moebius syndrome 3

thoracoabdominal syndrome

Chromosome 16p13.3 deletion syndrome

Down syndrome critical region 9 (non-protein coding)

Down syndrome critical region 4

The gene is found in a region of chromosome 21 that has been linked to the pathogenesis of Down syndrome. This gene is transcribed from a bi-directional promoter located in an endogenous retrovirus. [provided by RefSeq, Jan 2015]

Chromosome 17q23.1-q23.2 deletion syndrome

Aicardi syndrome

Chromosome 1p32-p31 deletion syndrome

Chromosome Xq27.3-q28 duplication syndrome

Chromosome 14q11-q22 deletion syndrome

Miles-Carpenter X-linked mental retardation syndrome

scapuloperoneal syndrome, myopathic type

Chromosome 17p13.3 duplication syndrome

Smith-Magenis syndrome chromosome region, candidate 8

Enables GTPase activator activity; protein kinase binding activity; and protein kinase inhibitor activity. Contributes to guanyl-nucleotide exchange factor activity. Involved in negative regulation of gene expression; regulation of TOR signaling; and regulation of macroautophagy. Located in Atg1/ULK1 kinase complex; chromatin; and nucleoplasm. Part of guanyl-nucleotide exchange factor complex. [provided by Alliance of Genome Resources, Mar 2025]

Smith-Magenis syndrome chromosome region, candidate 2 (non-protein coding)

Smith-Magenis syndrome chromosome region, candidate 5 (non-protein coding)

Smith-Magenis syndrome chromosome region, candidate 6 (non-protein coding)

cat eye syndrome chromosome region, candidate 7 (non-protein coding)

cylindromatosis (turban tumor syndrome)

This gene is encodes a cytoplasmic protein with three cytoskeletal-associated protein-glycine-conserved (CAP-GLY) domains that functions as a deubiquitinating enzyme. Mutations in this gene have been associated with cylindromatosis, multiple familial trichoepithelioma, and Brooke-Spiegler syndrome. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]

Hypotonia-cystinuria syndrome

WAGRO syndrome

oral-facial-digital syndrome 1

This gene is located on the X chromosome and encodes a centrosomal protein. A knockout mouse model has been used to study the effect of mutations in this gene. The mouse gene is also located on the X chromosome, however, unlike the human gene it is not subject to X inactivation. Mutations in this gene are associated with oral-facial-digital syndrome type I and Simpson-Golabi-Behmel syndrome type 2. Many pseudogenes have been identified; a single pseudogene is found on chromosome 5 while as many as fifteen have been found on the Y chromosome. [provided by RefSeq, Aug 2016]

Ectodermal dysplasia-syndactyly syndrome 2

Chromosome Xp11.3 deletion syndrome

Martin-Probst deafness-mental retardation syndrome

microcephaly with spastic diplegia (Paine syndrome)

Prieto X-linked mental retardation syndrome

Chromosome 17q12 duplication syndrome

Usher syndrome 1K (autosomal recessive)

spastic paraplegia 38 (autosomal dominant, Silver syndrome)

Alstrom syndrome 1 pseudogene

Shwachman-Bodian-Diamond syndrome pseudogene 1

Acropectorovertebral dysplasia (F syndrome)

Acropectoral syndrome

Pierre Robin syndrome

Zimmerman-Laband Syndrome

Cerebral-cerebellar-coloboma syndrome, X-linked

Williams Beuren syndrome chromosome region 22

This gene encodes a protein containing a nuclear localization signal and an S-adenosyl-L-methionine binding motif typical of methyltransferases, suggesting that the encoded protein may act on DNA methylation. This gene is deleted in Williams syndrome, a multisystem developmental disorder caused by the deletion of contiguous genes at 7q11.23. Alternatively spliced transcript variants have been found. [provided by RefSeq, Feb 2011]

Wolfram syndrome 1 (wolframin)

This gene encodes a transmembrane protein, which is located primarily in the endoplasmic reticulum and ubiquitously expressed with highest levels in brain, pancreas, heart, and insulinoma beta-cell lines. Mutations in this gene are associated with Wolfram syndrome, also called DIDMOAD (Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy, and Deafness), an autosomal recessive disorder. The disease affects the brain and central nervous system. Mutations in this gene can also cause autosomal dominant deafness 6 (DFNA6), also known as DFNA14 or DFNA38. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2009]

chromosome 3q29 microduplication syndrome

Chromosome Xp11.23-p11.22 duplication syndrome

Asperger syndrome, susceptibility to, 1

Chromosome 18p deletion syndrome

Chromosome 18q deletion syndrome

Fanconi renotubular syndrome

Potocki-Lupski syndrome

cat eye syndrome chromosome region

Cat eye syndrome (CES) is characterized clinically by the combination of coloboma of the iris and anal atresia with fistula, downslanting palpebral fissures, preauricular tags and/or pits, frequent occurrence of heart and renal malformations, and normal or near-normal mental development. A small supernumerary chromosome (smaller than chromosome 21) is present, frequently has 2 centromeres, is bisatellited, and represents an inv dup(22)(q11).[supplied by OMIM, Aug 2009]

FG syndrome 5

imprinted in Prader-Willi syndrome (non-protein coding)

This gene is non-protein coding, is expressed exclusively from the paternal allele, and may play a role in the imprinting process. Mutations in this gene are associated with Prader-Willi syndrome. [provided by RefSeq, May 2010]

Emanuel syndrome

DiGeorge syndrome critical region gene 11 (non-protein coding)

DiGeorge syndrome critical region gene 10 (non-protein coding)

DiGeorge syndrome critical region gene 12 (non-protein coding)

DiGeorge syndrome critical region gene 14

This gene is located within the minimal DGS critical region (MDGCR) thought to contain the gene(s) responsible for a group of developmental disorders. These disorders include DiGeorge syndrome, velocardiofacial syndrome, conotruncal anomaly face syndrome, and some familial or sporadic conotruncal cardiac defects which have been associated with microdeletion of 22q11.2. The encoded protein may be a component of C complex spliceosomes, and the orthologous protein in the mouse localizes to the nucleus. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2015]

Down syndrome critical region 10 (non-protein coding)

Gilles de la Tourette syndrome

Chromosome 15q24 deletion syndrome

Roifman-Chitayat syndrome

Chromosome 16q22 deletion syndrome

trichorhinophalangeal syndrome I

This gene encodes a transcription factor that represses GATA-regulated genes and binds to a dynein light chain protein. Binding of the encoded protein to the dynein light chain protein affects binding to GATA consensus sequences and suppresses its transcriptional activity. Defects in this gene are a cause of tricho-rhino-phalangeal syndrome (TRPS) types I-III. [provided by RefSeq, Jul 2008]

Chromosome 15q13.3 microdeletion syndrome

dandy-walker syndrome

Chromosome 1q21.1 duplication syndrome

Williams-Beuren syndrome type 2

Williams-Beuren syndrome chromosome region 2

Li-Fraumeni syndrome 3

asphixiating thoracic dystrophy (chondroectodermal dysplasia-like syndrome)

Usher syndrome 1H (autosomal recessive)

Usher syndrome 1C (autosomal recessive, severe)

This gene encodes a scaffold protein that functions in the assembly of Usher protein complexes. The protein contains PDZ domains, a coiled-coil region with a bipartite nuclear localization signal and a PEST degradation sequence. Defects in this gene are the cause of Usher syndrome type 1C and non-syndromic sensorineural deafness autosomal recessive type 18. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]

Usher syndrome 1G (autosomal recessive)

This gene encodes a protein that contains three ankyrin domains, a class I PDZ-binding motif and a sterile alpha motif. The encoded protein interacts with harmonin, which is associated with Usher syndrome type 1C. This protein plays a role in the development and maintenance of the auditory and visual systems and functions in the cohesion of hair bundles formed by inner ear sensory cells. Mutations in this gene are associated with Usher syndrome type 1G (USH1G). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]

Usher syndrome 1E (autosomal recessive, severe)

Russell Silver syndrome

Seckel syndrome 3

Waisman syndrome

Radiation sensitivity/chromosome instability syndrome, autosomal dominant

Supernumerary der(22)t(8-22) syndrome

Gustavson mental retardation syndrome (with microcephaly, optic

Restless legs syndrome 3

Restless legs syndrome 2

Restless legs syndrome, susceptibility to

Restless legs syndrome 7

Restless legs syndrome, susceptibility to, 6

Restless legs syndrome, susceptibility to, 5

Restless legs syndrome, susceptibility to, 8

Wiskott-Aldrich syndrome-like

This gene encodes a member of the Wiskott-Aldrich syndrome (WAS) protein family. Wiskott-Aldrich syndrome proteins share similar domain structure, and associate with a variety of signaling molecules to alter the actin cytoskeleton. The encoded protein is highly expressed in neural tissues, and interacts with several proteins involved in cytoskeletal organization, including cell division control protein 42 (CDC42) and the actin-related protein-2/3 (ARP2/3) complex. The encoded protein may be involved in the formation of long actin microspikes, and in neurite extension. [provided by RefSeq, Jul 2013]

non imprinted in Prader-Willi/Angelman syndrome 2

This gene encodes a possible magnesium transporter. This gene is located adjacent to the imprinted domain in the Prader-Willi syndrome deletion region of chromosome 15. Alternate splicing results in multiple transcript variants. Pseudogenes of this gene are found on chromosomes 3, 7 and 21.[provided by RefSeq, May 2010]

non imprinted in Prader-Willi/Angelman syndrome 1

This gene encodes a magnesium transporter that associates with early endosomes and the cell surface in a variety of neuronal and epithelial cells. This protein may play a role in nervous system development and maintenance. Multiple transcript variants encoding different isoforms have been found for this gene. Mutations in this gene have been associated with autosomal dominant spastic paraplegia 6. [provided by RefSeq, Nov 2008]

Hermansky-Pudlak syndrome 1 pseudogene

antiphospholipid syndrome, familial

Chromosome 1p36 deletion syndrome

Duane retraction syndrome 1

Van der Woude syndrome modifier

Down syndrome cell adhesion molecule like 1

The protein encoded by this gene is a member of the Ig superfamily of cell adhesion molecules and is involved in neuronal differentiation. The encoded membrane-bound protein localizes to the cell surface, where it forms aggregates that repel neuronal processes of the same cell type. [provided by RefSeq, Sep 2016]

Sjogren syndrome antigen B (autoantigen La) pseudogene

Gilles de la Tourette syndrome chromosome region, candidate 1 (non-protein coding)

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

Microdeletion 17q21.31 syndrome

Noonan syndrome 2

Restless legs syndrome 4

Chromosome 7q11.23 deletion syndrome, distal, 1.2Mb

Adams-Oliver syndrome

craniofacioskeletal syndrome

Sjogren syndrome nuclear autoantigen 1

Enables identical protein binding activity and microtubule binding activity. Involved in axonogenesis; cell division; and microtubule nucleation. Located in several cellular components, including axoneme; microtubule organizing center; and midbody. [provided by Alliance of Genome Resources, Mar 2025]

Chromosome 17q21.31 duplication syndrome

Branchiootic syndrome 2

Chromosome 19q13.11 deletion syndrome

Sjogren syndrome antigen B (autoantigen La) pseudogene

Chromosome 10q deletion syndrome

Williams-Beuren syndrome chromosome region 16

This gene encodes a protein containing regulator of chromosome condensation 1-like repeats. The encoded protein may function as a guanine nucleotide exchange factor. This gene is located in a region of chromosome 7 that is deleted in Williams-Beuren syndrome, a multisystem developmental disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]

Otodental dysplasia chromosome deletion syndrome

chromosome 17q11.2 deletion syndrome

Leri pleonosteosis chromosome duplication syndrome

ectrodactyly, ectodermal dysplasia and cleft lip/palate syndrome 2

ectrodactyly, ectodermal dysplasia and cleft lip/palate syndrome 1

Chromosome 4q21 deletion syndrome

Chromosome 22q13 duplication syndrome

DiGeorge syndrome critical region gene 6-like

This gene, the result of a duplication at this locus, is one of two functional genes encoding nearly identical proteins that have similar expression patterns. The product of this gene is a protein that shares homology with the Drosophila gonadal protein, expressed in gonadal tissues and germ cells, and with the human laminin gamma-1 chain that functions in cell attachment and migration. This gene is located in a region of chromosome 22 implicated in the DiGeorge syndrome, one facet of a broader collection of anomalies referred to as the CATCH 22 syndrome. [provided by RefSeq, Jul 2008]

Bloom syndrome, RecQ helicase-like

The Bloom syndrome is an autosomal recessive disorder characterized by growth deficiency, microcephaly and immunodeficiency among others. It is caused by homozygous or compound heterozygous mutation in the gene encoding DNA helicase RecQ protein on chromosome 15q26. This Bloom-associated helicase unwinds a variety of DNA substrates including Holliday junction, and is involved in several pathways contributing to the maintenance of genome stability. Identification of pathogenic Bloom variants is required for heterozygote testing in at-risk families. [provided by RefSeq, May 2020]

Wittwer syndrome

Chromosome 17p13.1 deletion syndrome

Klippel-Trenaunay-Weber syndrome

Chromosome 11p15-p14 deletion syndrome

Chromosome 1q21.1 deletion syndrome

Bor-Duane hydrocephalus contiguous gene syndrome

Senior-Loken syndrome 3

Bazex syndrome

armadillo repeat gene deleted in velocardiofacial syndrome

Armadillo Repeat gene deleted in Velo-Cardio-Facial syndrome (ARVCF) is a member of the catenin family. This family plays an important role in the formation of adherens junction complexes, which are thought to facilitate communication between the inside and outside environments of a cell. The ARVCF gene was isolated in the search for the genetic defect responsible for the autosomal dominant Velo-Cardio-Facial syndrome (VCFS), a relatively common human disorder with phenotypic features including cleft palate, conotruncal heart defects and facial dysmorphology. The ARVCF gene encodes a protein containing two motifs, a coiled coil domain in the N-terminus and a 10 armadillo repeat sequence in the midregion. Since these sequences can facilitate protein-protein interactions ARVCF is thought to function in a protein complex. In addition, ARVCF contains a predicted nuclear-targeting sequence suggesting that it may have a function as a nuclear protein. [provided by RefSeq, Jun 2010]

Hermansky-Pudlak syndrome 5

This gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. This protein interacts with Hermansky-Pudlak syndrome 6 protein and may interact with the cytoplasmic domain of integrin, alpha-3. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 5. Multiple transcript variants encoding two distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]

Hermansky-Pudlak syndrome 4

This gene encodes a protein component of biogenesis of lysosome-related organelles complexes (BLOC). BLOC complexes are important for the formation of endosomal-lysosomal organelles such as melanosomes and platelet dense granules. Mutations in this gene result in subtype 4 of Hermansky-Pudlak syndrome, a form of albinism. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012]

Hermansky-Pudlak syndrome 6

This intronless gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. This protein interacts with Hermansky-Pudlak syndrome 5 protein. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 6. [provided by RefSeq, Jul 2008]

Hermansky-Pudlak syndrome 1

This gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. The encoded protein is a component of three different protein complexes termed biogenesis of lysosome-related organelles complex (BLOC)-3, BLOC4, and BLOC5. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 1. Alternative splicing results in multiple transcript variants. A pseudogene related to this gene is located on chromosome 22. [provided by RefSeq, Aug 2015]

Hermansky-Pudlak syndrome 3

This gene encodes a protein containing a potential clathrin-binding motif, consensus dileucine signals, and tyrosine-based sorting signals for targeting to vesicles of lysosomal lineage. The encoded protein may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 3. [provided by RefSeq, Apr 2015]

lymphedema-cholestasis syndrome 1

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Bardet-Biedl syndrome 2 protein protein domain from the InterPro Predicted Protein Domain Annotations dataset.

From GAD Gene-Disease Associations

genes associated with the disease antithrombin iii deficiency; gastrointestinal hemorrhage; protein c deficiency; protein s deficiency; splenomegaly; thrombophilia; turner syndrome; venous thrombosis; xo syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

From GAD Gene-Disease Associations

genes associated with the disease digeorge syndrome; pharyngeal pouch; syndrome; velo-cardio-facial syndrome; 22q11 deletion syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

From GAD Gene-Disease Associations

genes associated with the disease activated protein c resistance; blood coagulation disorders; liver diseases; protein c deficiency; protein s deficiency; thrombosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

From GAD Gene-Disease Associations

genes associated with the disease activated protein c resistance; antithrombin iii deficiency; pregnancy complications, hematologic; protein c deficiency; protein s deficiency; puerperal disorders; pulmonary embolism; pulmonary embolisms; thrombophilia; venous thrombosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Usher syndrome type-1C protein-binding protein 1, PDZ domain protein domain from the InterPro Predicted Protein Domain Annotations dataset.

From ClinVar Gene-Phenotype Associations

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

From GAD Gene-Disease Associations

genes associated with the disease fatigue syndrome, chronic; fatigue syndrome; postviral; persian gulf syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

From GAD Gene-Disease Associations

genes associated with the disease nocturnal myoclonus syndrome; restless legs syndrome; tourette syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

From GAD Gene-Disease Associations

genes associated with the disease meconium aspiration syndrome; resp distress syndrome neonatal; respiratory distress syndrome, newborn; sleep disorders in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

From GAD Gene-Disease Associations

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

From GAD Gene-Disease Associations

genes associated with the disease insulin resistance; metabolic syndrome x; polycystic ovarian syndrome; polycystic ovary syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

From GAD Gene-Disease Associations

genes associated with the disease eclampsia; pre-eclampsia; protein c deficiency; protein s deficiency; thrombophilia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

From GAD Gene-Disease Associations

genes associated with the disease blood coagulation disorders, inherited; protein c deficiency; protein s deficiency; thrombophilia; venous thrombosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

From GAD Gene-Disease Associations

genes associated with the disease blood coagulation disorders; protein c deficiency; protein s deficiency; pulmonary embolism; pulmonary embolisms; thrombosis; venous thrombosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

From GAD Gene-Disease Associations

genes associated with the disease factor v deficiency; hypoprothrombinemias; protein c deficiency; protein s deficiency; pulmonary embolism; thrombophilia; venous thrombosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

From GAD Gene-Disease Associations

genes associated with the disease activated protein c resistance; protein s deficiency; thrombophilia; venous thrombosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

From GAD Gene-Disease Associations

genes associated with the disease protein c deficiency; protein s deficiency; venous thrombosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

From GAD Gene-Disease Associations

genes associated with the disease neoplasms; protein c deficiency; protein s deficiency; venous thromboembolism in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

From GO Biological Process Annotations 2015

genes participating in the negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process biological process from the curated GO Biological Process Annotations 2015 dataset.

From GO Biological Process Annotations 2015

genes participating in the protein modification by small protein conjugation biological process from the curated GO Biological Process Annotations 2015 dataset.

From GO Biological Process Annotations 2015

genes participating in the positive regulation of g-protein coupled receptor protein signaling pathway biological process from the curated GO Biological Process Annotations 2015 dataset.

From GO Biological Process Annotations 2015

genes participating in the protein maturation by protein folding biological process from the curated GO Biological Process Annotations 2015 dataset.

From GO Biological Process Annotations 2015

genes participating in the protein targeting to vacuole involved in ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway biological process from the curated GO Biological Process Annotations 2015 dataset.

From GO Biological Process Annotations 2015

genes participating in the negative regulation of protein modification by small protein conjugation or removal biological process from the curated GO Biological Process Annotations 2015 dataset.

From GO Biological Process Annotations 2015

genes participating in the negative regulation of protein kinase activity by regulation of protein phosphorylation biological process from the curated GO Biological Process Annotations 2015 dataset.

From GO Biological Process Annotations 2015

genes participating in the regulation of protein processing involved in protein targeting to mitochondrion biological process from the curated GO Biological Process Annotations 2015 dataset.

From GO Biological Process Annotations 2015

genes participating in the negative regulation of g-protein coupled receptor protein signaling pathway biological process from the curated GO Biological Process Annotations 2015 dataset.

From GO Biological Process Annotations 2015

genes participating in the negative regulation of protein processing involved in protein targeting to mitochondrion biological process from the curated GO Biological Process Annotations 2015 dataset.

From GO Biological Process Annotations 2015

genes participating in the activation of signaling protein activity involved in unfolded protein response biological process from the curated GO Biological Process Annotations 2015 dataset.

From GO Biological Process Annotations 2015

genes participating in the desensitization of g-protein coupled receptor protein signaling pathway biological process from the curated GO Biological Process Annotations 2015 dataset.

From GO Biological Process Annotations 2015

genes participating in the positive regulation of protein modification by small protein conjugation or removal biological process from the curated GO Biological Process Annotations 2015 dataset.

From GO Biological Process Annotations 2015

genes participating in the protein ubiquitination involved in ubiquitin-dependent protein catabolic process biological process from the curated GO Biological Process Annotations 2015 dataset.

From GO Biological Process Annotations 2015

genes participating in the positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process biological process from the curated GO Biological Process Annotations 2015 dataset.

From GO Biological Process Annotations 2015

genes participating in the protein deubiquitination involved in ubiquitin-dependent protein catabolic process biological process from the curated GO Biological Process Annotations 2015 dataset.

From GO Biological Process Annotations 2015

genes participating in the regulation of g-protein coupled receptor protein signaling pathway biological process from the curated GO Biological Process Annotations 2015 dataset.

From GO Biological Process Annotations 2015

genes participating in the regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process biological process from the curated GO Biological Process Annotations 2015 dataset.

From GO Biological Process Annotations 2015

genes participating in the protein processing involved in protein targeting to mitochondrion biological process from the curated GO Biological Process Annotations 2015 dataset.

From GO Biological Process Annotations 2015

genes participating in the regulation of protein modification by small protein conjugation or removal biological process from the curated GO Biological Process Annotations 2015 dataset.

From GO Biological Process Annotations 2015

genes participating in the protein kinase c-activating g-protein coupled receptor signaling pathway biological process from the curated GO Biological Process Annotations 2015 dataset.

From GO Biological Process Annotations 2015

genes participating in the desensitization of g-protein coupled receptor protein signaling pathway by arrestin biological process from the curated GO Biological Process Annotations 2015 dataset.

From GO Biological Process Annotations 2015

genes participating in the protein modification by small protein removal biological process from the curated GO Biological Process Annotations 2015 dataset.

From GO Biological Process Annotations 2015

genes participating in the protein modification by small protein conjugation or removal biological process from the curated GO Biological Process Annotations 2015 dataset.

From GO Molecular Function Annotations 2015

genes performing the protein binding involved in protein folding molecular function from the curated GO Molecular Function Annotations 2015 dataset.

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Vacuolar protein sorting-associated protein 54 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Myelin protein zero-like protein 1 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Myelin protein zero-like protein 2 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Myelin protein zero-like protein 3 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Tumour protein p53-inducible nuclear protein protein domain from the InterPro Predicted Protein Domain Annotations dataset.

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the ADP-ribosylation factor-like protein 6-interacting protein 6 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Dyslexia-associated protein KIAA0319-like protein protein domain from the InterPro Predicted Protein Domain Annotations dataset.

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Small proline-rich protein/late cornified envelope protein protein domain from the InterPro Predicted Protein Domain Annotations dataset.

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Protein kinase A anchor protein, RI-RII subunit-binding domain protein domain from the InterPro Predicted Protein Domain Annotations dataset.

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Guanine nucleotide binding protein (G-protein), alpha subunit protein domain from the InterPro Predicted Protein Domain Annotations dataset.

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Protein transport protein SecG/Sec61-beta/Sbh protein domain from the InterPro Predicted Protein Domain Annotations dataset.

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Protein of unknown function DUF3669, zinc finger protein protein domain from the InterPro Predicted Protein Domain Annotations dataset.

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the 50S ribosomal protein L18Ae/60S ribosomal protein L20 and L18a protein domain from the InterPro Predicted Protein Domain Annotations dataset.

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Cleft lip and palate transmembrane protein 1-like protein protein domain from the InterPro Predicted Protein Domain Annotations dataset.

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Pre-rRNA-processing protein IPI1/Testis-expressed sequence 10 protein protein domain from the InterPro Predicted Protein Domain Annotations dataset.

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Tumor protein p53-inducible protein 11 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the V-set and transmembrane domain-containing protein 2-like protein protein domain from the InterPro Predicted Protein Domain Annotations dataset.

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Actin-related protein 2/3 complex subunit 5-like protein protein domain from the InterPro Predicted Protein Domain Annotations dataset.

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the GTP-binding protein TrmE/Glycine cleavage system T protein, domain 1 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Insulin-like growth factor binding protein-related protein (IGFBP-rP), MAC25 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Vacuolar protein sorting-associated protein 13 domain protein domain from the InterPro Predicted Protein Domain Annotations dataset.

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the EH domain-binding protein 1-like protein 1 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the SWR1-complex protein 5/Craniofacial development protein protein domain from the InterPro Predicted Protein Domain Annotations dataset.

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the DMRT/protein doublesex/protein male abnormal 3 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Vacuolar protein sorting protein 36, GLUE domain protein domain from the InterPro Predicted Protein Domain Annotations dataset.

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Ribosomal protein L7/L12, C-terminal/adaptor protein ClpS-like protein domain from the InterPro Predicted Protein Domain Annotations dataset.

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the UV radiation resistance protein/autophagy-related protein 14 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Four-jointed box protein 1/four-jointed protein protein domain from the InterPro Predicted Protein Domain Annotations dataset.

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the G protein-coupled receptor kinase-interacting protein 1 C term protein domain from the InterPro Predicted Protein Domain Annotations dataset.

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Coiled-coil domain-containing protein 18/Cytoskeletal protein Sojo protein domain from the InterPro Predicted Protein Domain Annotations dataset.

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Ribosomal RNA-processing protein 14/surfeit locus protein 6, C-terminal domain protein domain from the InterPro Predicted Protein Domain Annotations dataset.

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Kinetochore protein Cenp-F/LEK1, Rb protein-binding domain protein domain from the InterPro Predicted Protein Domain Annotations dataset.

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Vacuolar protein sorting-associated protein 13A N-terminal domain protein domain from the InterPro Predicted Protein Domain Annotations dataset.

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the SWR1-complex protein 4/DNA methyltransferase 1-associated protein 1 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Vacuolar protein sorting protein 26 related protein domain from the InterPro Predicted Protein Domain Annotations dataset.

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Tumor protein p53-inducible nuclear protein 1 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Vacuolar protein sorting-associated protein 41 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Bone morphogenetic protein 1/tolloid-like protein protein domain from the InterPro Predicted Protein Domain Annotations dataset.

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Synaptonemal complex protein 2/protein 2-like protein domain from the InterPro Predicted Protein Domain Annotations dataset.

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Sterol regulatory element-binding protein cleavage-activating protein protein domain from the InterPro Predicted Protein Domain Annotations dataset.

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Polyadenylate-binding protein/Hyperplastic disc protein protein domain from the InterPro Predicted Protein Domain Annotations dataset.

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Uncharacterised protein family WW domain-binding protein 1 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Receptor-transporting protein/CXXC-type zinc finger protein 11 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Receptor tyrosine-protein phosphatase C-associated protein CD45-AP protein domain from the InterPro Predicted Protein Domain Annotations dataset.

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Vacuolar protein sorting-associated protein 8, central domain protein domain from the InterPro Predicted Protein Domain Annotations dataset.

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Growth arrest/ DNA-damage-inducible protein-interacting protein 1 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Vacuolar protein sorting-associated protein 16 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Vacuolar protein sorting-associate protein Vta1/Callose synthase, N-terminal domain protein domain from the InterPro Predicted Protein Domain Annotations dataset.

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Probable cytosolic iron-sulfur protein assembly protein, CIAO1/Cia1 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Outer membrane protein Iml2/Tetratricopeptide repeat protein 39 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Vesicle-associated membrane protein-associated protein B protein domain from the InterPro Predicted Protein Domain Annotations dataset.

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Vesicle-associated membrane protein-associated protein A protein domain from the InterPro Predicted Protein Domain Annotations dataset.

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Protein LIN-9/Protein ALWAYS EARLY protein domain from the InterPro Predicted Protein Domain Annotations dataset.

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Steroid receptor RNA activator-protein/coat protein complex II, Sec31 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Vacuolar protein sorting-associated protein 35, Vps35 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Tumor protein p53-inducible nuclear protein 2 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Protein of unknown function DUF3697, ubiquitin-associated protein 2 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Retinoic acid-induced protein 2/sine oculis-binding protein homologue protein domain from the InterPro Predicted Protein Domain Annotations dataset.

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Tetracycline resistance protein, TetA/multidrug resistance protein MdtG protein domain from the InterPro Predicted Protein Domain Annotations dataset.

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the TYRO protein tyrosine kinase-binding protein protein domain from the InterPro Predicted Protein Domain Annotations dataset.

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Proline/serine-rich coiled-coil protein 1/G2 and S phase-expressed protein 1 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Ribosomal protein L1/ribosomal biogenesis protein protein domain from the InterPro Predicted Protein Domain Annotations dataset.

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Actin-related protein 8/Plant actin-related protein 9 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Regulator of G-protein signalling 9-binding protein protein domain from the InterPro Predicted Protein Domain Annotations dataset.

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Vacuolar protein sorting-associated protein 11 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Vacuolar protein sorting-associated protein 13 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Vesicle-associated membrane-protein-associated protein protein domain from the InterPro Predicted Protein Domain Annotations dataset.

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Vacuolar protein sorting protein 11, C-terminal protein domain from the InterPro Predicted Protein Domain Annotations dataset.

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the cAMP-responsive element-binding protein 3-like protein 4 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the cAMP-responsive element-binding protein 3-like protein 1 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the cAMP-responsive element-binding protein 3-like protein 3 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the cAMP-responsive element-binding protein 3-like protein 2 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Vacuolar protein sorting-associated protein 33 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Protein kinase A anchor protein, nuclear localisation signal domain protein domain from the InterPro Predicted Protein Domain Annotations dataset.

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Spermatogenesis-associated protein 2-like protein protein domain from the InterPro Predicted Protein Domain Annotations dataset.

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the A-kinase anchor protein 6/Centrosomal protein of 68kDa protein domain from the InterPro Predicted Protein Domain Annotations dataset.

From WikiPathways Pathways 2014

proteins participating in the PodNet: protein-protein interactions in the podocyte(Mus musculus) pathway from the WikiPathways Pathways 2014 dataset.

From WikiPathways Pathways 2014

proteins participating in the XPodNet - protein-protein interactions in the podocyte expanded by STRING(Mus musculus) pathway from the WikiPathways Pathways 2014 dataset.

From GO Biological Process Annotations 2023

genes participating in the protein transport to vacuole involved in ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway biological process from the curated GO Biological Process Annotations 2023 dataset.

From GO Biological Process Annotations 2023

genes participating in the protein kinase C-activating G protein-coupled receptor signaling pathway biological process from the curated GO Biological Process Annotations 2023 dataset.

From GO Biological Process Annotations 2023

genes participating in the protein modification by small protein conjugation biological process from the curated GO Biological Process Annotations 2023 dataset.

From GO Biological Process Annotations 2023

genes participating in the protein processing involved in protein targeting to mitochondrion biological process from the curated GO Biological Process Annotations 2023 dataset.

From GO Biological Process Annotations 2023

genes participating in the negative regulation of protein kinase activity by regulation of protein phosphorylation biological process from the curated GO Biological Process Annotations 2023 dataset.

From GO Biological Process Annotations 2023

genes participating in the protein initiator methionine removal involved in protein maturation biological process from the curated GO Biological Process Annotations 2023 dataset.

From GO Biological Process Annotations 2023

genes participating in the protein deubiquitination involved in ubiquitin-dependent protein catabolic process biological process from the curated GO Biological Process Annotations 2023 dataset.

From GO Biological Process Annotations 2023

genes participating in the negative regulation of protein processing involved in protein targeting to mitochondrion biological process from the curated GO Biological Process Annotations 2023 dataset.

From GO Biological Process Annotations 2023

genes participating in the membrane protein proteolysis involved in retrograde protein transport, ER to cytosol biological process from the curated GO Biological Process Annotations 2023 dataset.

From GO Biological Process Annotations 2023

genes participating in the protein modification by small protein removal biological process from the curated GO Biological Process Annotations 2023 dataset.

From GO Biological Process Annotations 2023

genes participating in the regulation of protein modification by small protein conjugation or removal biological process from the curated GO Biological Process Annotations 2023 dataset.

From GO Biological Process Annotations 2023

genes participating in the positive regulation of protein modification by small protein conjugation or removal biological process from the curated GO Biological Process Annotations 2023 dataset.

From GO Biological Process Annotations 2023

genes participating in the negative regulation of protein modification by small protein conjugation or removal biological process from the curated GO Biological Process Annotations 2023 dataset.

From GO Biological Process Annotations 2023

genes participating in the protein modification by small protein conjugation or removal biological process from the curated GO Biological Process Annotations 2023 dataset.

From GO Biological Process Annotations 2023

genes participating in the regulation of protein processing involved in protein targeting to mitochondrion biological process from the curated GO Biological Process Annotations 2023 dataset.

From Reactome Pathways 2024

proteins participating in the Protein-protein interactions at synapses pathway from the Reactome Pathways 2024 dataset.

From GO Biological Process Annotations 2025

genes participating in the protein transport to vacuole involved in ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway biological process from the curated GO Biological Process Annotations 2025 dataset.

From GO Biological Process Annotations 2025

genes participating in the protein modification by small protein conjugation biological process from the curated GO Biological Process Annotations 2025 dataset.

From GO Biological Process Annotations 2025

genes participating in the protein processing involved in protein targeting to mitochondrion biological process from the curated GO Biological Process Annotations 2025 dataset.

From GO Biological Process Annotations 2025

genes participating in the negative regulation of protein kinase activity by regulation of protein phosphorylation biological process from the curated GO Biological Process Annotations 2025 dataset.

From GO Biological Process Annotations 2025

genes participating in the protein deubiquitination involved in ubiquitin-dependent protein catabolic process biological process from the curated GO Biological Process Annotations 2025 dataset.

From GO Biological Process Annotations 2025

genes participating in the negative regulation of protein processing involved in protein targeting to mitochondrion biological process from the curated GO Biological Process Annotations 2025 dataset.

From GO Biological Process Annotations 2025

genes participating in the membrane protein proteolysis involved in retrograde protein transport, ER to cytosol biological process from the curated GO Biological Process Annotations 2025 dataset.

From GO Biological Process Annotations 2025

genes participating in the protein modification by small protein removal biological process from the curated GO Biological Process Annotations 2025 dataset.

From GO Biological Process Annotations 2025

genes participating in the regulation of protein modification by small protein conjugation or removal biological process from the curated GO Biological Process Annotations 2025 dataset.

From GO Biological Process Annotations 2025

genes participating in the positive regulation of protein modification by small protein conjugation or removal biological process from the curated GO Biological Process Annotations 2025 dataset.

From GO Biological Process Annotations 2025

genes participating in the negative regulation of protein modification by small protein conjugation or removal biological process from the curated GO Biological Process Annotations 2025 dataset.

From GO Biological Process Annotations 2025

genes participating in the protein modification by small protein conjugation or removal biological process from the curated GO Biological Process Annotations 2025 dataset.

From GO Biological Process Annotations 2025

genes participating in the regulation of protein processing involved in protein targeting to mitochondrion biological process from the curated GO Biological Process Annotations 2025 dataset.

From GAD Gene-Disease Associations

genes associated with the disease activated protein c resistance; postphlebitic syndrome; varicose ulcer in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

From GAD Gene-Disease Associations

genes associated with the disease activated protein c resistance; hellp syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

From GAD Gene-Disease Associations

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

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Uncharacterised protein family, methyltransferase, Williams-Beuren syndrome protein domain from the InterPro Predicted Protein Domain Annotations dataset.

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Hermansky-Pudlak syndrome 4 protein protein domain from the InterPro Predicted Protein Domain Annotations dataset.

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Armadillo repeat protein deleted in velo-cardio-facial syndrome protein domain from the InterPro Predicted Protein Domain Annotations dataset.

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Williams-Beuren syndrome chromosomal region 28 protein homologue protein domain from the InterPro Predicted Protein Domain Annotations dataset.

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Alstrom syndrome protein 1 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Neural Wiskott-Aldrich syndrome protein protein domain from the InterPro Predicted Protein Domain Annotations dataset.

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Wiskott-Aldrich syndrome protein protein domain from the InterPro Predicted Protein Domain Annotations dataset.

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Joubert syndrome-associated protein protein domain from the InterPro Predicted Protein Domain Annotations dataset.

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Hydrolethalus syndrome protein 1, C-terminal domain protein domain from the InterPro Predicted Protein Domain Annotations dataset.

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Hydrolethalus syndrome protein 1 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Cat eye syndrome critical region protein 6 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Cat eye syndrome critical region protein 2 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Cat eye syndrome critical region protein 5 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Nance-Horan syndrome protein family protein domain from the InterPro Predicted Protein Domain Annotations dataset.

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Hermansky-Pudlak syndrome 1 protein protein domain from the InterPro Predicted Protein Domain Annotations dataset.

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Hermansky-Pudlak syndrome 3 protein, N-terminal domain protein domain from the InterPro Predicted Protein Domain Annotations dataset.

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Hermansky-Pudlak syndrome 3 protein, C-terminal domain protein domain from the InterPro Predicted Protein Domain Annotations dataset.

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Hermansky-Pudlak syndrome 3 protein protein domain from the InterPro Predicted Protein Domain Annotations dataset.

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Wiscott-Aldrich syndrome protein, C-terminal protein domain from the InterPro Predicted Protein Domain Annotations dataset.

From DisGeNET Gene-Disease Associations

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

From DisGeNET Gene-Disease Associations

genes associated with the disease Laron Syndrome With Elevated Serum Gh-Binding Protein in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

From DisGeNET Gene-Disease Associations

genes associated with the disease Laron Syndrome With Undetectable Serum Gh-Binding Protein in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

From ClinVar Gene-Phenotype Associations

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

From ClinVar Gene-Phenotype Associations

genes associated with the Hereditary cancer-predisposing syndrome:Lynch syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

From ClinVar Gene-Phenotype Associations

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

From ClinVar Gene-Phenotype Associations

genes associated with the Von Hippel-Lindau syndrome:Hereditary cancer-predisposing syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

From ClinVar Gene-Phenotype Associations

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

From ClinVar Gene-Phenotype Associations

genes associated with the Lynch syndrome:Hereditary cancer-predisposing syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

From ClinVar Gene-Phenotype Associations

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

From ClinVar Gene-Phenotype Associations

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

From ClinVar Gene-Phenotype Associations

genes associated with the Hereditary cancer-predisposing syndrome:Peutz-Jeghers syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

From ClinVar Gene-Phenotype Associations

genes associated with the IFAP syndrome with or without BRESHECK syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

From ClinVar Gene-Phenotype Associations

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

From ClinVar Gene-Phenotype Associations

genes associated with the Hereditary cancer-predisposing syndrome:Hereditary cancer-predisposing syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

From CTD Gene-Disease Associations

genes/proteins associated with the disease Miller-McKusick-Malvaux-Syndrome (3M Syndrome) from the curated CTD Gene-Disease Associations dataset.

From CTD Gene-Disease Associations

genes/proteins associated with the disease Digeorge Syndrome/Velocardiofacial Syndrome Complex 2 from the curated CTD Gene-Disease Associations dataset.

From GAD Gene-Disease Associations

genes associated with the disease menarch; natural menopause; obesity; pof - premature ovarian failure; polycystic ovarian syndrome; polycystic ovary syndrome; primary ovarian insufficiency; puberty, delayed; puberty, precocious in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

From GAD Gene-Disease Associations

genes associated with the disease amyloidosis; behcet syndrome; familial mediterranean fever; irritable bowel syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

From GAD Gene-Disease Associations

genes associated with the disease chromosome aberrations; chromosome abnormality; cystic fibrosis; klinefelter syndrome; klinefelter's syndrome; oligospermia; sex chromosome aberrations; translocation, genetic in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

From GAD Gene-Disease Associations

genes associated with the disease adult respiratory distress syndrome; respiratory distress syndrome, adult; sepsis; systemic infection; wounds and injuries in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

From GAD Gene-Disease Associations

genes associated with the disease hyperhomocysteinemia; polycystic ovarian syndrome; polycystic ovary syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

From GAD Gene-Disease Associations

genes associated with the disease adult respiratory distress syndrome; multiple organ failure; respiratory distress syndrome, adult; wounds and injuries in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

From GAD Gene-Disease Associations

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

From GAD Gene-Disease Associations

genes associated with the disease fatigue syndrome, chronic; fatigue syndrome; postviral in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

From GAD Gene-Disease Associations

genes associated with the disease pof - premature ovarian failure; polycystic ovarian syndrome; polycystic ovary syndrome; primary ovarian insufficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

From GAD Gene-Disease Associations

genes associated with the disease abnormalities, multiple; aortic aneurysm, thoracic; marfan syndrome; syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

From GAD Gene-Disease Associations

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

From GAD Gene-Disease Associations

genes associated with the disease obstetric labor, premature; resp distress syndrome neonatal; respiratory distress syndrome, newborn; tachycardia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

From GAD Gene-Disease Associations

genes associated with the disease hyperandrogenism; polycystic ovarian syndrome; polycystic ovary syndrome; puberty, precocious in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

From GAD Gene-Disease Associations

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

From GAD Gene-Disease Associations

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

From GAD Gene-Disease Associations

genes associated with the disease hyperandrogenism; insulin resistance; obesity; polycystic ovarian syndrome; polycystic ovary syndrome; thinness in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

From GAD Gene-Disease Associations

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

From GAD Gene-Disease Associations

genes associated with the disease endometriosis; infertility, female; polycystic ovarian syndrome; polycystic ovary syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

From GAD Gene-Disease Associations

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

From GAD Gene-Disease Associations

genes associated with the disease obesity; natural menopause; pof - premature ovarian failure; polycystic ovarian syndrome; polycystic ovary syndrome; primary ovarian insufficiency; puberty, delayed; puberty, precocious; thrombophilia; tobacco use disorder in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

From GAD Gene-Disease Associations

genes associated with the disease fetal alcohol syndrome; syndrome; fetal, alcohol (dysmorphic) in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

From GAD Gene-Disease Associations

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

From GAD Gene-Disease Associations

genes associated with the disease hyperandrogenism; hyperinsulinism; insulin resistance; polycystic ovarian syndrome; polycystic ovary syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

From GAD Gene-Disease Associations

genes associated with the disease autoimmune thyroiditis; helicobacter infections; thyroiditis, autoimmune; turner syndrome; xo syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

From GAD Gene-Disease Associations

genes associated with the disease infertility, female; insulin resistance; polycystic ovarian syndrome; polycystic ovary syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

From GAD Gene-Disease Associations

genes associated with the disease autoimmune diseases; chromosome aberrations; chromosome abnormality; turner syndrome; xo syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

From GAD Gene-Disease Associations

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

From GAD Gene-Disease Associations

genes associated with the disease haemolytic-uraemic syndrome; hemolytic-uremic syndrome; recurrence in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

From GAD Gene-Disease Associations

genes associated with the disease natural menopause; obesity; pof - premature ovarian failure; polycystic ovarian syndrome; polycystic ovary syndrome; primary ovarian insufficiency; puberty, delayed; puberty, precocious; thrombophilia; tobacco use disorder in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

From GAD Gene-Disease Associations

genes associated with the disease infertility; polycystic ovarian syndrome; polycystic ovary syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

From GAD Gene-Disease Associations

genes associated with the disease abnormalities, multiple; genetic diseases, inborn; kallmann syndrome; syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

From GAD Gene-Disease Associations

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

From GAD Gene-Disease Associations

genes associated with the disease arthritis; carpal tunnel syndrome; cryoglobulinemia; hepatitis c, chronic; sjogren's syndrome; thyroiditis, autoimmune in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

From GAD Gene-Disease Associations

genes associated with the disease glucose intolerance; polycystic ovarian syndrome; polycystic ovary syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

From GAD Gene-Disease Associations

genes associated with the disease escherichia coli infections; haemolytic-uraemic syndrome; hemolytic-uremic syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

From GAD Gene-Disease Associations

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

From GAD Gene-Disease Associations

genes associated with the disease digeorge syndrome; memory disorders; pharyngeal pouch; syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

From GAD Gene-Disease Associations

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

From GAD Gene-Disease Associations

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

From GAD Gene-Disease Associations

genes associated with the disease insulin resistance; polycystic ovarian syndrome; polycystic ovary syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

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.

From GAD Gene-Disease Associations

genes associated with the disease chronic renal failure; haemolytic-uraemic syndrome; hemolytic-uremic syndrome; kidney failure, chronic in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

From GAD Gene-Disease Associations

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