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203 relations: ACAT1, ACRV1, Acute intermittent porphyria, AKIP1, Albinism, Alkb homolog 3, alpha-ketoglutaratedependent dioxygenase, AMPD3, Angiomotin-like protein 1, Apelin receptor, API5, APOA4, Arbitrary unit, Archain 1, ASRGL1, Ataxia-telangiectasia, ATM serine/threonine kinase, Autism, Autosome, B3GNT1, Base pair, Beckwith–Wiedemann syndrome, Beta thalassemia, Beta-ketothiolase deficiency, Bladder cancer, Brain-derived neurotrophic factor, Breast cancer, C11orf1, C11orf16, C11orf49, C11orf52, C11orf54, C11orf86, C1QTNF4 (gene), C1QTNF5, Caprin-1, Carnitine palmitoyltransferase I, Carnitine palmitoyltransferase I deficiency, CCDC90B, CCL9, CD81, Cell (biology), Centromere, Charcot–Marie–Tooth disease, Chromosome, COMMD9, Consensus CDS Project, CPSF7, CREB/ATF bZIP transcription factor, Cystic fibrosis, DAK (gene), ..., DDI1, Denys–Drash syndrome, Depression (mood), Diacylglycerol O-acyltransferase 2, DKK3, DNA, DNA annotation, Dopamine receptor D4, Down syndrome cell adhesion molecule like 1, DPF2, EI24, Ensembl genome database project, Enzyme, FAM118B, FAM76B, Familial Mediterranean fever, Fat atypical cadherin 3, FNBP4, FTS and Hook-interacting protein, G banding, GC-content, Gene, Gene density, Gene prediction, GLB1L3, GLYAT, Glycine-n-acyltransferase like 2, GPHA2, GYLTL1B, HBB, HBBP1, Hereditary angioedema, Hereditary multiple exostoses, HIKESHI, HRASLS3, HTATIP2, HUGO Gene Nomenclature Committee, Human, Human genome, HYOU1, Insulin, Interferon-induced transmembrane protein 2, Intraflagellar transport protein 46 homolog, Jacobsen syndrome, Jervell and Lange-Nielsen syndrome, Karyotype, KDM2A, KIAA1549L (gene), Leucine rich repeat and fibronectin type iii domain containing 4, Locus (genetics), LPXN, MADD (gene), Mantle cell lymphoma, Meckel syndrome, MEN1, Methemoglobinemia, MicroRNA let-7a-2, Mitosis, MLSTD2, MMP7, MOGAT2, MTRNR2L8, Multiple endocrine neoplasia type 1, MUPCDH, N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase, NADSYN1, NAP1L4, National Center for Biotechnology Information, Neurogranin, NFRKB, Niemann–Pick disease, NNMT, Non-coding RNA, Nonsyndromic deafness, Olfactory receptor, P53AIP1, PAX6, Pecanex homolog 3, Pepsinogen 3, group I (pepsinogen A), Piwi like rna-mediated gene silencing 4, Porphobilinogen deaminase, Porphyria, Potocki–Shaffer syndrome, Proline rich 5 like, Pseudogene, PTPRCAP, PTS (gene), QSER1, RAG1, RAG2, Reference genome, RELT, REXO2, RNH1, RNU2-2, ROM1, Romano–Ward syndrome, RSF1, SAA2, SAC3D1, SART1, SBF2, SCGB1D2, Serum amyloid A1, SESN3, Sickle cell disease, Sid1 transmembrane family member 2, Small acidic protein, Smith–Lemli–Opitz syndrome, Solute carrier family 17 (vesicular glutamate transporter), member 6, SPA17, Sphingomyelin phosphodiesterase 1, Srp receptor alpha subunit, TAF1D, TBRG1, TECTA, Tetrahydrobiopterin deficiency, THRSP, THYN1, TIMM10, TIMM10B, TM7SF2, TMEM109, TMEM123, TMEM126B, TMEM25, TP53I11, Transaldolase 1, Transmembrane protein 134, TRAPPC4, TRPT1, Tyrosine hydroxylase, UCSC Genome Browser, UNC93B1, UniProt, UPK2, USH1C, Usher syndrome, USP47, UVRAG, Vitelliform macular dystrophy, VPS26B, VSIG2, WAGR syndrome, Wiedemann-Steiner syndrome, Wilms' tumor, WT1, YIF1A, ZFP91-CNTF, ZNF408, 60S ribosomal protein L27a, 60S ribosomal protein L36a, 7-Dehydrocholesterol reductase. Expand index (153 more) »
ACAT1
Acetyl-CoA acetyltransferase, mitochondrial, also known as acetoacetyl-CoA thiolase, is an enzyme that in humans is encoded by the ACAT1 (Acetyl-Coenzyme A acetyltransferase 1) gene.
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ACRV1
Acrosomal protein SP-10 is a protein that in humans is encoded by the ACRV1 gene.
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Acute intermittent porphyria
Acute intermittent porphyria (AIP) is a genetic metabolic disorder affecting the production of heme, the oxygen-binding prosthetic group of hemoglobin.
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AKIP1
A kinase (PRKA) interacting protein 1 is a protein in humans that is encoded by the AKIP1 gene.
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Albinism
Albinism in humans is a congenital disorder characterized by the complete or partial absence of pigment in the skin, hair and eyes.
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Alkb homolog 3, alpha-ketoglutaratedependent dioxygenase
AlkB homolog 3, alpha-ketoglutaratedependent dioxygenase is a protein that in humans is encoded by the ALKBH3 gene.
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AMPD3
AMP deaminase 3 is an enzyme that in humans is encoded by the AMPD3 gene.
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Angiomotin-like protein 1
Angiomotin-like protein 1 is a protein that in humans is encoded by the AMOTL1 gene.
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Apelin receptor
The apelin receptor (also known as the APJ receptor) is a G protein-coupled receptor which binds apelin and Apela/ELABELA/Toddler.
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API5
The human gene API5 encodes the protein Apoptosis inhibitor 5.
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APOA4
Apolipoprotein A-IV (also known as apoA-IV, apoAIV, or apoA4) is plasma protein that is the product of the human gene APOA4.
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Arbitrary unit
In science and technology, an arbitrary unit (abbreviated arb. unit, see below) or procedure defined unit (p.d.u.) is a relative unit of measurement to show the ratio of amount of substance, intensity, or other quantities, to a predetermined reference measurement.
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Archain 1
Archain 1 is a protein that in humans is encoded by the ARCN1 gene.
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ASRGL1
L-asparaginase is an enzyme that in humans is encoded by the ASRGL1 gene.
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Ataxia-telangiectasia
Ataxia-telangiectasia (AT or A-T), also referred to as ataxia-telangiectasia syndrome or Louis–Bar syndrome, is a rare, neurodegenerative, autosomal recessive disease causing severe disability.
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ATM serine/threonine kinase
ATM serine/threonine kinase, symbol ATM, is a serine/threonine protein kinase that is recruited and activated by DNA double-strand breaks.
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Autism
Autism is a developmental disorder characterized by troubles with social interaction and communication and by restricted and repetitive behavior.
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Autosome
An autosome is a chromosome that is not an allosome (a sex chromosome).
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B3GNT1
N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase is an enzyme that in humans is encoded by the B3GNT1 gene.
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Base pair
A base pair (bp) is a unit consisting of two nucleobases bound to each other by hydrogen bonds.
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Beckwith–Wiedemann syndrome
Beckwith–Wiedemann syndrome (abbreviated BWS) is an overgrowth disorder usually present at birth, characterized by an increased risk of childhood cancer and certain congenital features.
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Beta thalassemia
Beta thalassemias (β thalassemias) are a group of inherited blood disorders.
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Beta-ketothiolase deficiency
Beta-ketothiolase deficiency is a rare, autosomal recessive metabolic disorder in which the body cannot properly process the amino acid isoleucine or the products of lipid breakdown.
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Bladder cancer
Bladder cancer is any of several types of cancer arising from the tissues of the urinary bladder.
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Brain-derived neurotrophic factor
Brain-derived neurotrophic factor, also known as BDNF, is a protein that, in humans, is encoded by the BDNF gene.
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Breast cancer
Breast cancer is cancer that develops from breast tissue.
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C11orf1
Chromosome 11 open reading frame one, also known as C11orf1, is a protein-coding gene.
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C11orf16
Gene C11orf16, chromosome 11 open reading frame 16, is a protein in humans that is encoded by the C11orf16 gene.
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C11orf49
UPF0705 protein C11orf49 is a protein that in humans is encoded by the C11orf49 gene.
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C11orf52
C11orf52 is an uncharacterized protein that in homo sapiens is encoded by the C11orf52 gene.
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C11orf54
Chromosome 11 open reading frame 54 (C11orf54) is a protein that in humans is encoded by the C11orf54 gene.
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C11orf86
Chromosome 11 open reading frame 86, also known as C11orf86, is a protein-coding gene in humans.
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C1QTNF4 (gene)
C1q and tumor necrosis factor related protein 4 is a protein that in humans is encoded by the C1QTNF4 gene.
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C1QTNF5
C1q and tumor necrosis factor related protein 5, also known as C1QTNF5, is a protein which in humans is encoded by the C1QTNF5 gene.
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Caprin-1
Caprin-1 is a protein that in humans is encoded by the CAPRIN1 gene.
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Carnitine palmitoyltransferase I
Carnitine palmitoyltransferase I (CPT1) also known as carnitine acyltransferase I, CPTI, CAT1, CoA:carnitine acyl transferase (CCAT), or palmitoylCoA transferase I, is a mitochondrial enzyme responsible for the formation of acyl carnitines by catalyzing the transfer of the acyl group of a long-chain fatty acyl-CoA from coenzyme A to l-carnitine.
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Carnitine palmitoyltransferase I deficiency
Carnitine palmitoyltransferase I deficiency is a rare metabolic disorder that prevents the body from converting certain fats called long-chain fatty acids into energy, particularly during periods without food.
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CCDC90B
Coiled coil domain containing 90B, also known as CCDC90B, is a protein encoded by the CCDC90B gene.
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CCL9
Chemokine (C-C motif) ligand 9 (CCL9) is a small cytokine belonging to the CC chemokine family.
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CD81
CD81 molecule, also known as CD81 (Cluster of Differentiation 81), is a protein which in humans is encoded by the CD81 gene.
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Cell (biology)
The cell (from Latin cella, meaning "small room") is the basic structural, functional, and biological unit of all known living organisms.
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Centromere
The centromere is the specialized DNA sequence of a chromosome that links a pair of sister chromatids (a dyad).
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Charcot–Marie–Tooth disease
Charcot–Marie–Tooth disease (CMT) is one of the hereditary motor and sensory neuropathies, a group of varied inherited disorders of the peripheral nervous system characterized by progressive loss of muscle tissue and touch sensation across various parts of the body.
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Chromosome
A chromosome (from Ancient Greek: χρωμόσωμα, chromosoma, chroma means colour, soma means body) is a DNA molecule with part or all of the genetic material (genome) of an organism.
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COMMD9
COMM domain-containing protein 9 is a protein that in humans is encoded by the COMMD9 gene.
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Consensus CDS Project
The Consensus Coding Sequence (CCDS) Project is a collaborative effort to maintain a dataset of protein-coding regions that are identically annotated on the human and mouse reference genome assemblies.
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CPSF7
Cleavage and polyadenylation specificity factor subunit 7 is a protein that in humans is encoded by the CPSF7 gene.
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CREB/ATF bZIP transcription factor
CREB/ATF bZIP transcription factor is a protein that in humans is encoded by the CREBZF gene.
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Cystic fibrosis
Cystic fibrosis (CF) is a genetic disorder that affects mostly the lungs, but also the pancreas, liver, kidneys, and intestine.
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DAK (gene)
Triokinase/FMN cyclase is an enzyme that in humans is encoded by the DAK gene.
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DDI1
DNA-damage inducible 1 homolog 1 (S. cerevisiae) is a protein.
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Denys–Drash syndrome
Denys–Drash syndrome (DDS) or Drash syndrome is a rare disorder or syndrome characterized by gonadal dysgenesis, nephropathy, and Wilms' tumor.
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Depression (mood)
Depression is a state of low mood and aversion to activity that can affect a person's thoughts, behavior, tendencies, feelings, and sense of well-being.
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Diacylglycerol O-acyltransferase 2
Diacylglycerol O-acyltransferase 2 is a protein that in humans is encoded by the DGAT2 gene.
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DKK3
Dickkopf-related protein 3 is a protein that in humans is encoded by the DKK3 gene.
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DNA
Deoxyribonucleic acid (DNA) is a thread-like chain of nucleotides carrying the genetic instructions used in the growth, development, functioning and reproduction of all known living organisms and many viruses.
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DNA annotation
DNA annotation or genome annotation is the process of identifying the locations of genes and all of the coding regions in a genome and determining what those genes do.
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Dopamine receptor D4
The dopamine receptor D4 is a dopamine D2-like G protein-coupled receptor encoded by the gene on chromosome 11 at 11p15.5.
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Down syndrome cell adhesion molecule like 1
Down syndrome cell adhesion molecule like 1 is a protein in humans that is encoded by the DSCAML1 gene.
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DPF2
Zinc finger protein ubi-d4 is a protein that in humans is encoded by the DPF2 gene.
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EI24
Etoposide-induced protein 2.4 homolog is a protein that in humans is encoded by the EI24 gene.
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Ensembl genome database project
Ensembl genome database project is a joint scientific project between the European Bioinformatics Institute and the Wellcome Trust Sanger Institute, which was launched in 1999 in response to the imminent completion of the Human Genome Project.
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Enzyme
Enzymes are macromolecular biological catalysts.
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FAM118B
Family with sequence similarity 118, member B is a protein that in humans is encoded by the FAM118B gene.
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FAM76B
Protein FAM76B is a protein that in humans is encoded by the FAM76B gene.
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Familial Mediterranean fever
Familial Mediterranean fever (FMF) is a hereditary inflammatory disorder.
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Fat atypical cadherin 3
FAT atypical cadherin 3 is a protein that in humans is encoded by the FAT3 gene.
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FNBP4
Formin-binding protein 4 is a protein that in humans is encoded by the FNBP4 gene.
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FTS and Hook-interacting protein
FTS and Hook-interacting protein (FHIP) also known as protein FAM160A2 is a protein that in humans is encoded by the FAM160A2 gene.
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G banding
G-banding, G banding, or Giemsa banding is a technique used in cytogenetics to produce a visible karyotype by staining condensed chromosomes.
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GC-content
In molecular biology and genetics, GC-content (or guanine-cytosine content) is the percentage of nitrogenous bases on a DNA or RNA molecule that are either guanine or cytosine (from a possibility of four different ones, also including adenine and thymine in DNA and adenine and uracil in RNA).
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Gene
In biology, a gene is a sequence of DNA or RNA that codes for a molecule that has a function.
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Gene density
In genetics, the gene density of an organism's genome is the ratio of the number of genes per number of base pairs, usually written in terms of a million base pairs, or megabase (Mb).
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Gene prediction
In computational biology, gene prediction or gene finding refers to the process of identifying the regions of genomic DNA that encode genes.
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GLB1L3
Galactosidase, beta 1-like 3 is a protein in humans that is encoded by the GLB1L3 gene.
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GLYAT
Glycine-N-acyltransferase, also known as GLYAT, is an enzyme which in humans is encoded by the GLYAT gene.
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Glycine-n-acyltransferase like 2
Glycine-N-acyltransferase like 2 is a protein that in humans is encoded by the GLYATL2 gene.
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GPHA2
Glycoprotein hormone alpha-2 is a protein that in humans is encoded by the GPHA2 gene.
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GYLTL1B
Glycosyltransferase-like protein LARGE2 is an enzyme that in humans is encoded by the GYLTL1B gene.
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HBB
Beta globin (also referred to as HBB, β-globin, haemoglobin beta, hemoglobin beta, or preferably haemoglobin subunit beta) is a globin protein, which along with alpha globin (HBA), makes up the most common form of haemoglobin in adult humans, the HbA.
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HBBP1
Hemoglobin, beta pseudogene 1 is a protein in humans that is encoded by the HBBP1 gene.
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Hereditary angioedema
Hereditary angioedema (HAE) is a disorder that results in recurrent attacks of severe swelling.
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Hereditary multiple exostoses
Hereditary multiple osteochondromas (HMO) also known as Hereditary multiple exostoses is a disorder characterized by the development of multiple benign osteocartilaginous masses (exostoses) in relation to the ends of long bones of the lower limbs such as the femurs and tibias and of the upper limbs such as the humeri and forearm bones.
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HIKESHI
HIKESHI is a protein important in lung and multicellular organismal development that, in humans, is encoded by the HIKESHI gene.
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HRASLS3
Group XVI phospholipase A2 also commonly known as adipocyte phospholipase A2 (AdPLA) is an enzyme that in humans is encoded by the PLA2G16 gene.
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HTATIP2
Oxidoreductase HTATIP2 is an enzyme that in humans is encoded by the HTATIP2 gene.
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HUGO Gene Nomenclature Committee
The HUGO Gene Nomenclature Committee (HGNC) is a committee of the Human Genome Organisation (HUGO) that sets the standards for human gene nomenclature.
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Human
Humans (taxonomically Homo sapiens) are the only extant members of the subtribe Hominina.
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Human genome
The human genome is the complete set of nucleic acid sequences for humans, encoded as DNA within the 23 chromosome pairs in cell nuclei and in a small DNA molecule found within individual mitochondria.
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HYOU1
Hypoxia up-regulated protein 1 is a protein that in humans is encoded by the HYOU1 gene.
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Insulin
Insulin (from Latin insula, island) is a peptide hormone produced by beta cells of the pancreatic islets; it is considered to be the main anabolic hormone of the body.
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Interferon-induced transmembrane protein 2
Interferon-induced transmembrane protein 2 is a protein that in humans is encoded by the IFITM2 gene.
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Intraflagellar transport protein 46 homolog
Intraflagellar transport protein 46 homolog is a protein that in humans is encoded by the IFT46 gene.
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Jacobsen syndrome
Jacobsen syndrome is a rare chromosomal disorder resulting from deletion of genes from chromosome 11 that includes band 11q24.1.
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Jervell and Lange-Nielsen syndrome
Jervell and Lange-Nielsen syndrome (JLNS) is a type of long QT syndrome associated with severe, bilateral sensorineural hearing loss.
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Karyotype
A karyotype is the number and appearance of chromosomes in the nucleus of a eukaryotic cell.
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KDM2A
Lysine-specific demethylase 2A (KDM2A) also known as F-box and leucine-rich repeat protein 11 (FBXL11) is an enzyme that in humans is encoded by the KDM2A gene.
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KIAA1549L (gene)
KIAA1549-like is a protein that in humans is encoded by the KIAA1549L gene.
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Leucine rich repeat and fibronectin type iii domain containing 4
Leucine rich repeat and fibronectin type III domain containing 4 is a protein that in humans is encoded by the LRFN4 gene.
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Locus (genetics)
A locus (plural loci) in genetics is a fixed position on a chromosome, like the position of a gene or a marker (genetic marker).
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LPXN
Leupaxin is a protein that in humans is encoded by the LPXN gene.
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MADD (gene)
MAP kinase-activating death domain protein is an enzyme that in humans is encoded by the MADD gene.
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Mantle cell lymphoma
Mantle cell lymphoma (MCL) is a type of non-Hodgkin's lymphoma (NHL), comprising about 6% of NHL cases.
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Meckel syndrome
Meckel syndrome (also known as Meckel–Gruber syndrome, Gruber syndrome, dysencephalia splanchnocystica) is a rare, lethal, ciliopathic, genetic disorder, characterized by renal cystic dysplasia, central nervous system malformations (occipital encephalocele), polydactyly (post axial), hepatic developmental defects, and pulmonary hypoplasia due to oligohydramnios.
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MEN1
Menin is a protein that in humans is encoded by the MEN1 gene.
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Methemoglobinemia
Methemoglobinemia is a condition caused by elevated levels of methemoglobin in the blood.
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MicroRNA let-7a-2
MicroRNA let-7a-2 is a protein that in humans is encoded by the MIRLET7A2 gene.
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Mitosis
In cell biology, mitosis is a part of the cell cycle when replicated chromosomes are separated into two new nuclei.
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MLSTD2
Fatty acyl-CoA reductase 1 is an enzyme that in humans is encoded by the FAR1 gene.
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MMP7
Matrilysin also known as matrix metalloproteinase-7 (MMP-7), pump-1 protease (PUMP-1), or uterine metalloproteinase is an enzyme in humans that is encoded by the MMP7 gene.
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MOGAT2
2-Acylglycerol O-acyltransferase 2 also known as acyl-CoA:monoacylglycerol acyltransferase 2 (MGAT2) or Diacylglycerol O-acyltransferase candidate 5 (DC5) is an enzyme that in humans is encoded by the MOGAT2 gene.
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MTRNR2L8
MT-RNR2-like 8 is a protein in humans that is encoded by the MTRNR2L8 gene.
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Multiple endocrine neoplasia type 1
Multiple endocrine neoplasia type 1 (MEN-1 syndrome) or Wermer's syndrome is part of a group of disorders, the multiple endocrine neoplasias, that affect the endocrine system through development of neoplastic lesions in pituitary, parathyroid gland and pancreas.
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MUPCDH
Mucin and cadherin-like protein is a protein that in humans is encoded by the MUPCDH gene.
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N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase
In enzymology, a N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase is an enzyme that catalyzes the chemical reaction Thus, the two substrates of this enzyme are UDP-N-acetyl-D-glucosamine and beta-D-galactosyl-1,4-N-acetyl-D-glucosaminyl-R, whereas its 3 products are UDP, N-acetyl-beta-D-glucosaminyl-1,3-beta-D-galactosyl-1,4-N-acetyl-D-, and glucosaminyl-R. This enzyme belongs to the family of glycosyltransferases, specifically the hexosyltransferases.
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NADSYN1
Glutamine-dependent NAD(+) synthetase is an enzyme that in humans is encoded by the NADSYN1 gene.
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NAP1L4
Nucleosome assembly protein 1-like 4 is a protein that in humans is encoded by the NAP1L4 gene.
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National Center for Biotechnology Information
The National Center for Biotechnology Information (NCBI) is part of the United States National Library of Medicine (NLM), a branch of the National Institutes of Health (NIH).
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Neurogranin
Neurogranin is a calmodulin-binding protein expressed primarily in the brain, particularly in dendritic spines, and participating in the protein kinase C signaling pathway.
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NFRKB
Nuclear factor related to kappa-B-binding protein is a protein that in humans is encoded by the NFRKB gene.
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Niemann–Pick disease
Niemann–Pick disease is a group of inherited, severe metabolic disorders in which sphingomyelin accumulates in lysosomes in cells.
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NNMT
Nicotinamide N-methyltransferase is an enzyme that in humans is encoded by the NNMT gene.
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Non-coding RNA
A non-coding RNA (ncRNA) is an RNA molecule that is not translated into a protein.
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Nonsyndromic deafness
Nonsyndromic deafness is hearing loss that is not associated with other signs and symptoms.
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Olfactory receptor
Olfactory receptors (ORs), also known as odorant receptors, are expressed in the cell membranes of olfactory receptor neurons and are responsible for the detection of odorants (i.e., compounds that have an odor) which give rise to the sense of smell.
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P53AIP1
p53-regulated apoptosis-inducing protein 1 is a protein that in humans is encoded by the TP53AIP1 gene.
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PAX6
Paired box protein Pax-6, also known as aniridia type II protein (AN2) or oculorhombin, is a protein that in humans is encoded by the PAX6 gene.
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Pecanex homolog 3
Pecanex homolog 3 is a protein that in humans is encoded by the PCNX3 gene.
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Pepsinogen 3, group I (pepsinogen A)
Pepsinogen 3, group I (pepsinogen A) is a protein that in humans is encoded by the PGA3 gene.
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Piwi like rna-mediated gene silencing 4
Piwi like RNA-mediated gene silencing 4 is a protein that in humans is encoded by the PIWIL4 gene.
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Porphobilinogen deaminase
Porphobilinogen deaminase (hydroxymethylbilane synthase, or uroporphyrinogen I synthase) is an enzyme that in humans is encoded by the HMBS gene.
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Porphyria
Porphyria is a group of diseases in which substances called porphyrins build up, negatively affecting the skin or nervous system.
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Potocki–Shaffer syndrome
Potocki–Shaffer syndrome (PSS), also known as DEFECT11 syndrome or chromosome 11p11.2 deletion syndrome, is a rare contiguous gene syndrome that results from the microdeletion of section 11.2 on the short arm of chromosome 11 (11p11.2).
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Proline rich 5 like
Proline rich 5 like is a protein that in humans is encoded by the PRR5L gene.
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Pseudogene
Pseudogenes are segments of DNA that are related to real genes.
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PTPRCAP
Protein tyrosine phosphatase receptor type C-associated protein is an enzyme that in humans is encoded by the PTPRCAP gene.
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PTS (gene)
6-pyruvoyltetrahydropterin synthase, also known as PTS, is a human gene which facilitates folate biosynthesis.
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QSER1
Glutamine Serine Rich Protein 1 or QSER1 is a protein encoded by the QSER1 gene.
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RAG1
Recombination activating gene 1 also known as RAG-1 is a protein that in humans is encoded by the RAG1 gene.
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RAG2
Recombination activating gene 2 also known as RAG-2 is a protein that in humans is encoded by the RAG2 gene.
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Reference genome
A reference genome (also known as a reference assembly) is a digital nucleic acid sequence database, assembled by scientists as a representative example of a species' set of genes.
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RELT
Tumor necrosis factor receptor superfamily member 19L is a protein that in humans is encoded by the RELT gene.
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REXO2
REX2, RNA exonuclease 2 homolog (S. cerevisiae), also known as REXO2, is an enzyme which in humans is encoded by the REXO2 gene.
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RNH1
Ribonuclease inhibitor is an enzyme that in humans is encoded by the RNH1 gene.
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RNU2-2
RNA, U2 small nuclear 2 is a protein in humans that is encoded by the RNU2-2 pseudogene.
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ROM1
Rod outer segment membrane protein 1 is a protein that in humans is encoded by the ROM1 gene.
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Romano–Ward syndrome
Romano–Ward syndrome is the major variant of long QT syndrome, a heart condition that causes the cardiac muscle to take longer than usual to recharge between beats; if untreated, the irregular heartbeats can lead to fainting, seizures, or sudden death.
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RSF1
Remodeling and spacing factor 1 is a protein that in humans is encoded by the RSF1 gene.
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SAA2
Serum amyloid A protein is a protein that in humans is encoded by the SAA2 gene.
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SAC3D1
SAC3 domain-containing protein 1 is a protein that in humans is encoded by the SAC3D1 gene.
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SART1
U4/U6.U5 tri-snRNP-associated protein 1 is a protein that in humans is encoded by the SART1 gene.
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SBF2
Myotubularin-related protein 13 is a protein that in humans is encoded by the SBF2 gene.
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SCGB1D2
Secretoglobin family 1D member 2 is a protein that in humans is encoded by the SCGB1D2 gene.
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Serum amyloid A1
Serum amyloid A1 (SAA1) is a protein that in humans is encoded by the SAA1 gene.
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SESN3
Sestrin 3 is a protein that in humans is encoded by the SESN3 gene.
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Sickle cell disease
Sickle cell disease (SCD) is a group of blood disorders typically inherited from a person's parents.
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Sid1 transmembrane family member 2
SID1 transmembrane family member 2 is a protein that in humans is encoded by the SIDT2 gene.
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Small acidic protein
Small acidic protein is a protein that in humans is encoded by the SMAP gene.
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Smith–Lemli–Opitz syndrome
Smith–Lemli–Opitz syndrome (also SLOS, or 7-dehydrocholesterol reductase deficiency) is an inborn error of cholesterol synthesis.
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Solute carrier family 17 (vesicular glutamate transporter), member 6
Solute carrier family 17 (vesicular glutamate transporter), member 6 is a protein that in humans is encoded by the SLC17A6 gene.
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SPA17
Sperm surface protein Sp17 is a protein that in humans is encoded by the SPA17 gene.
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Sphingomyelin phosphodiesterase 1
Sphingomyelin phosphodiesterase 1 (SMPD1), also known as acid sphingomyelinase (ASM), is an enzyme that in humans is encoded by the SMPD1 gene.
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Srp receptor alpha subunit
SRP receptor alpha subunit is a protein that in humans is encoded by the SRPRA gene.
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TAF1D
TATA box binding protein (TBP)-associated factor, RNA polymerase I, D, 41kDa is a protein that in humans is encoded by the TAF1D gene.
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TBRG1
Transforming growth factor beta regulator 1 is a protein that in humans is encoded by the TBRG1 gene.
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TECTA
Alpha-tectorin is a protein that in humans is encoded by the TECTA gene.
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Tetrahydrobiopterin deficiency
Tetrahydrobiopterin deficiency (THBD, BH4D), also called THB or BH4 deficiency, is a rare metabolic disorder that increases the blood levels of phenylalanine.
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THRSP
Thyroid hormone-inducible hepatic protein is a protein that in humans is encoded by the THRSP gene.
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THYN1
Thymocyte nuclear protein 1 is a protein that in humans is encoded by the THYN1 gene.
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TIMM10
Mitochondrial import inner membrane translocase subunit Tim10 is an enzyme that in humans is encoded by the TIMM10 gene.
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TIMM10B
Mitochondrial import inner membrane translocase subunit Tim9 B is an enzyme that in humans is encoded by the FXC1 gene.
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TM7SF2
Delta(14)-sterol reductase is an enzyme that in humans is encoded by the TM7SF2 gene.
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TMEM109
Transmembrane protein 109 is a protein that in humans is encoded by the TMEM109 gene.
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TMEM123
Porimin is a protein that in humans is encoded by the TMEM123 gene.
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TMEM126B
Transmembrane protein 126B is a protein that in humans is encoded by the TMEM126B gene.
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TMEM25
Transmembrane protein 25 is a protein that in humans is encoded by the TMEM25 gene.
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TP53I11
Tumor protein p53-inducible protein 11 is a protein that in humans is encoded by the TP53I11 gene.
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Transaldolase 1
Transaldolase 1 is a protein that in humans is encoded by the TALDO1 gene.
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Transmembrane protein 134
Transmembrane protein 134 is a protein encoded by the TMEM134 gene.
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TRAPPC4
Trafficking protein particle complex subunit 4 is a protein that in humans is encoded by the TRAPPC4 gene.
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TRPT1
tRNA 2'-phosphotransferase 1 is an enzyme that in humans is encoded by the TRPT1 gene.
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Tyrosine hydroxylase
Tyrosine hydroxylase or tyrosine 3-monooxygenase is the enzyme responsible for catalyzing the conversion of the amino acid L-tyrosine to L-3,4-dihydroxyphenylalanine (L-DOPA).
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UCSC Genome Browser
The UCSC Genome Browser is an on-line, and downloadable, genome browser hosted by the University of California, Santa Cruz (UCSC).
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UNC93B1
Unc-93 homolog B1 (C. elegans), also known as UNC93B1, is a protein which in humans is encoded by the UNC93B1 gene.
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UniProt
UniProt is a freely accessible database of protein sequence and functional information, many entries being derived from genome sequencing projects.
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UPK2
Uroplakin-2 is a protein that in humans is encoded by the UPK2 gene.
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USH1C
Harmonin is a protein that in humans is encoded by the USH1C gene.
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Usher syndrome
Usher syndrome, also known as Hallgren syndrome, Usher-Hallgren syndrome, retinitis pigmentosa-dysacusis syndrome, or dystrophia retinae dysacusis syndrome, is a rare genetic disorder caused by a mutation in any one of at least 11 genes resulting in a combination of hearing loss and visual impairment.
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USP47
Ubiquitin carboxyl-terminal hydrolase 47 is an enzyme that in humans is encoded by the USP47 gene.
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UVRAG
UV radiation resistance-associated gene protein is a protein that in humans is encoded by the UVRAG gene.
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Vitelliform macular dystrophy
Vitelliform macular dystrophy or vitelliform dystrophy is an irregular autosomal dominant eye disorder which can cause progressive vision loss.
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VPS26B
Vacuolar protein sorting 26 homolog B (S. pombe) is a protein in humans that is encoded by the VPS26B gene.
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VSIG2
V-set and immunoglobulin domain containing 2 is a protein in humans that is encoded by the VSIG2 gene.
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WAGR syndrome
WAGR syndrome (also known as WAGR complex, Wilms tumour-aniridia syndrome, aniridia-Wilms tumour syndrome) is a rare genetic syndrome in which affected children are predisposed to develop '''W'''ilms tumour (a tumour of the kidneys), '''A'''niridia (absence of the coloured part of the eye, the iris), '''G'''enitourinary anomalies, and mental '''R'''etardation.
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Wiedemann-Steiner syndrome
Wiedemann-Steiner syndrome is a rare genetic disorder that causes developmental delay, unusual facial features, short stature, and reduction in muscle tone (hypotonia).
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Wilms' tumor
Wilms tumor, also known as nephroblastoma, is a cancer of the kidneys that typically occurs in children, rarely in adults.
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WT1
Wilms tumor protein is a protein that in humans is encoded by the WT1 gene on chromosome 11p.
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YIF1A
Protein YIF1A is a protein that in humans is encoded by the YIF1A gene.
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ZFP91-CNTF
Zinc finger protein 91 homolog (mouse), ciliary neurotrophic factor transcription unit, also known as ZFP91-CNTF, is a human gene.
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ZNF408
Zinc finger protein 408 is a protein that in humans is encoded by the ZNF408 gene.
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60S ribosomal protein L27a
60S ribosomal protein L27a is a protein that in humans is encoded by the RPL27A gene.
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60S ribosomal protein L36a
60S ribosomal protein L36a is a protein that in humans is encoded by the RPL36A gene.
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7-Dehydrocholesterol reductase
7-Dehydrocholesterol reductase, also known as DHCR7, is a protein that in humans is encoded by the DHCR7 gene.
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Redirects here:
11q, Chromosome 11 (human), Human Chromosome 11, Human chromosome 11.
References
[1] https://en.wikipedia.org/wiki/Chromosome_11
