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165 relations: Achondroplasia, ACOX3, ACVR1, AGPAT9, Alpha, Alpha-synuclein, Aminoadipate-semialdehyde dehydrogenase, ANK2, APBB2, Arbitrary unit, ART3, ASAHL, Autosomal dominant polycystic kidney disease, Autosome, Base pair, Basic fibroblast growth factor, Bladder cancer, Ccdc109b, Cell (biology), Central hypoventilation syndrome, Centromere, Chromosome, Chronic lymphocytic leukemia, Collapsin response mediator protein family, Complement factor I, Consensus CDS Project, CRMP1, Crouzonodermoskeletal syndrome, CSN2, CXCL1, CXCL10, CXCL11, CXCL13, CXCL2, CXCL3, CXCL5, CXCL6, CXCL7, CXCL9, CYTL1, DCUN1D4, DHX15, DKK2, DNA, DNA annotation, Dominance (genetics), DUX4, Ellis–van Creveld syndrome, Elmo domain containing 2, EMCN, ..., Ensembl genome database project, Enzyme, EVC (gene), EVC2, Facioscapulohumeral muscular dystrophy, Factor XI, FAM114A1, FAM149A, FAM193A, FAM198B, Fam221b, FAM47E-STBD1, Fibroblast growth factor receptor 3, Fibroblast growth factor receptor-like 1, Fibrodysplasia ossificans progressiva, FRG1, G banding, GC-content, Gene, Gene prediction, GUF1, Haemophilia C, Hemolytic-uremic syndrome, Hereditary benign intraepithelial dyskeratosis, Hirschsprung's disease, Homeobox, HUGO Gene Nomenclature Committee, Human, Human genome, Huntingtin, Huntington's disease, Hypochondroplasia, Interleukin 8, INTS12, J chain, Karyotype, KIAA1530, Kinase insert domain receptor, LCORL, LDB2, LGI2, LOC100505912, Locus (genetics), LSM6, LYAR, MAB21L2, Marcksl1 (gene), Mastermind-like 3 (drosophila), Methylmalonic acidemia, MFSD7, MIR1269A, Mitosis, MLF1IP, MMAA, MTHFD2L, Mucopolysaccharidosis type I, Muenke syndrome, Myosin light chain 5, National Center for Biotechnology Information, Neuron, NOA1, Non-coding RNA, Nonsyndromic deafness, NUDT6, NUDT9, OTUD4, PABPC4L, Parkinson's disease, PARM1, PHOX2B, PI4K2B, Platelet factor 4, PLK4, Polycystic kidney disease, Polycystin 2, Protein, PSAPL1, Pseudogene, QDPR, RBM47, Reference genome, Romano–Ward syndrome, SDAD1, SEC24B, SEC24D, SEPT11, Severe achondroplasia with developmental delay and acanthosis nigricans, SLC9B2, SMIM20, Solute carrier family 10 member 4, SPATA5, STATH, Synuclein, TACC3, TENM3, Tetrahydrobiopterin deficiency, Thanatophoric dysplasia, THAP6, TMPRSS11D, TNIP2, Ubiquitin carboxy-terminal hydrolase L1, Ubiquitin specific peptidase 38, UCSC Genome Browser, UGT8, UNC5C, UniProt, USP53, UTP3, Vascular endothelial growth factor, WFS1, Wolf–Hirschhorn syndrome, Wolfram syndrome, ZGRF1, Zinc finger protein 621, 6,7-dihydropteridine reductase. Expand index (115 more) »
Achondroplasia
Achondroplasia is a genetic disorder that results in dwarfism.
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ACOX3
Peroxisomal acyl-coenzyme A oxidase 3 is an enzyme that in humans is encoded by the ACOX3 gene.
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ACVR1
Activin A receptor, type I (ACVR1) is a protein which in humans is encoded by the ACVR1 gene; also known as ALK-2 (activin receptor-like kinase-2).
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AGPAT9
Glycerol-3-phosphate acyltransferase 3 (GPAT-3) is an enzyme that in humans is encoded by the AGPAT9 gene.
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Alpha
Alpha (uppercase, lowercase; ἄλφα, álpha, modern pronunciation álfa) is the first letter of the Greek alphabet.
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Alpha-synuclein
Alpha-synuclein is a protein that, in humans, is encoded by the SNCA gene.
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Aminoadipate-semialdehyde dehydrogenase
Aminoadipate-semialdehyde dehydrogenase is a protein that in humans is encoded by the AASDH gene.
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ANK2
Ankyrin-B, also known as Ankyrin-2, is a protein which in humans is encoded by the ANK2 gene.
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APBB2
Amyloid beta A4 precursor protein-binding family B member 2 is a protein that in humans is encoded by the APBB2 gene.
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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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ART3
Ecto-ADP-ribosyltransferase 3 is an enzyme that in humans is encoded by the ART3 gene.
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ASAHL
N-acylethanolamine-hydrolyzing acid amidase is an enzyme that in humans is encoded by the NAAA gene.
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Autosomal dominant polycystic kidney disease
Autosomal dominant polycystic kidney disease (ADPKD) is the most prevalent, potentially lethal, monogenic human disorder.
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Autosome
An autosome is a chromosome that is not an allosome (a sex chromosome).
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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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Basic fibroblast growth factor
FGF2, also known as basic fibroblast growth factor (bFGF) and FGF-β, is a growth factor and signaling protein encoded by the FGF2 gene.
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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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Ccdc109b
Coiled-coil domain containing 109B (CCDC109B) is a potential calcium uniporter protein found in the membrane of human cells and is encoded by the CCDC109B 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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Central hypoventilation syndrome
Central hypoventilation syndrome (CHS) is a respiratory disorder that results in respiratory arrest during sleep.
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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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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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Chronic lymphocytic leukemia
Chronic lymphocytic leukemia (CLL) is a type of cancer in which the bone marrow makes too many lymphocytes (a type of white blood cell).
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Collapsin response mediator protein family
Collapsin response mediator protein family or CRMP family consists of five intracellular phosphoproteins (CRMP-1, CRMP-2, CRMP-3, CRMP4, CRMP5) of similar molecular size (60–66 kDa) and high (50–70%) amino acid sequence identity.
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Complement factor I
Complement factor I, also known as C3b/C4b inactivator, is a protein that in humans is encoded by the CFI 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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CRMP1
Collapsin response mediator protein 1, encoded by the CRMP1 gene, is a human protein of the CRMP family.
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Crouzonodermoskeletal syndrome
Crouzonodermoskeletal syndrome is a disorder characterized by the premature joining of certain bones of the skull (craniosynostosis) during development and a skin condition called acanthosis nigricans.
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CSN2
Beta-casein is a protein that in humans is encoded by the CSN2 gene.
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CXCL1
The chemokine (C-X-C motif) ligand 1 (CXCL1) is a small cytokine belonging to the CXC chemokine family that was previously called GRO1 oncogene, GROα, KC, neutrophil-activating protein 3 (NAP-3) and melanoma growth stimulating activity, alpha (MSGA-α).
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CXCL10
C-X-C motif chemokine 10 (CXCL10) also known as Interferon gamma-induced protein 10 (IP-10) or small-inducible cytokine B10 is an 8.7 kDa protein that in humans is encoded by the CXCL10 gene.
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CXCL11
C-X-C motif chemokine 11 (CXCL11) is a protein that in humans is encoded by the CXCL11 gene.
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CXCL13
chemokine (C-X-C motif) ligand 13 (CXCL13), also known as B lymphocyte chemoattractant (BLC) or B cell-attracting chemokine 1 (BCA-1), is a protein ligand that in humans is encoded by the CXCL13 gene.
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CXCL2
Chemokine (C-X-C motif) ligand 2 (CXCL2) is a small cytokine belonging to the CXC chemokine family that is also called macrophage inflammatory protein 2-alpha (MIP2-alpha), Growth-regulated protein beta (Gro-beta) and Gro oncogene-2 (Gro-2).
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CXCL3
Chemokine (C-X-C motif) ligand 3 (CXCL3) is a small cytokine belonging to the CXC chemokine family that is also known as GRO3 oncogene (GRO3), GRO protein gamma (GROg) and macrophage inflammatory protein-2-beta (MIP2b).
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CXCL5
C-X-C motif chemokine 5 (CXCL5 or ENA78) is a protein that in humans is encoded by the CXCL5 gene.
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CXCL6
Chemokine (C-X-C motif) ligand 6 (CXCL6) is a small cytokine belonging to the CXC chemokine family that is also known as granulocyte chemotactic protein 2 (GCP-2).
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CXCL7
Chemokine (C-X-C motif) ligand 7 (CXCL7) is a human gene.
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CXCL9
Chemokine (C-X-C motif) ligand 9 (CXCL9) is a small cytokine belonging to the CXC chemokine family that is also known as Monokine induced by gamma interferon (MIG).
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CYTL1
Cytokine-like 1 (CYTL1) is a protein that in humans is encoded by the CYTL1 gene.
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DCUN1D4
DCN1-like protein 4 is a protein that in humans is encoded by the DCUN1D4 gene.
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DHX15
Putative pre-mRNA-splicing factor ATP-dependent RNA helicase DHX15 is an enzyme that in humans is encoded by the DHX15 gene.
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DKK2
Dickkopf-related protein 2 is a protein that in humans is encoded by the DKK2 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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Dominance (genetics)
Dominance in genetics is a relationship between alleles of one gene, in which the effect on phenotype of one allele masks the contribution of a second allele at the same locus.
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DUX4
Double homeobox, 4 also known as DUX4 is a protein which in humans is encoded by the DUX4 gene.
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Ellis–van Creveld syndrome
Ellis–van Creveld syndrome (also called chondroectodermal dysplasia or mesoectodermal dysplasia but see 'Nomenclature' section below) is a rare genetic disorder of the skeletal dysplasia type.
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Elmo domain containing 2
ELMO domain containing 2 is a protein that in humans is encoded by the ELMOD2 gene.
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EMCN
Endomucin is a protein that in humans is encoded by the EMCN 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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EVC (gene)
EVC is a gene associated with Ellis-van Creveld syndrome.
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EVC2
EVC2 is a gene associated with Ellis-van Creveld syndrome.
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Facioscapulohumeral muscular dystrophy
Facioscapulohumeral muscular dystrophy (FSHMD, FSHD or FSH)—originally named Landouzy-Dejerine, MDA, date accessed 6 March 2007—is a usually autosomal dominant inherited form of muscular dystrophy (MD) that initially affects the skeletal muscles of the face (facio), scapula (scapulo) and upper arms (humeral).
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Factor XI
Factor XI or plasma thromboplastin antecedent is the zymogen form of factor XIa, one of the enzymes of the coagulation cascade.
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FAM114A1
Protein FAM114A1 also known as nervous system overexpressed protein 20 (NOXP20) is a protein that in humans is encoded by the FAM114A1 gene.
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FAM149A
Family with sequence similarity 149, member A is a protein that in humans is encoded by the FAM149A gene (also known as MSTP119, MST119 and DKFZP564J102).
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FAM193A
Family with sequence similarity 193 member A is a protein that in humans is encoded by the FAM193A gene located on locus p16.3 of chromosome 4.
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FAM198B
Protein ENED is a protein that in humans is encoded by the FAM198B gene.
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Fam221b
FAM221B is a protein that in humans is encoded by the FAM221B gene.
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FAM47E-STBD1
FAM47E-STBD1 readthrough is a protein that in humans is encoded by the FAM47E-STBD1 gene.
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Fibroblast growth factor receptor 3
Fibroblast growth factor receptor 3 is a protein that in humans is encoded by the FGFR3 gene.
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Fibroblast growth factor receptor-like 1
Fibroblast growth factor receptor-like 1 is a protein that in humans is encoded by the FGFRL1 gene.
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Fibrodysplasia ossificans progressiva
Fibrodysplasia ossificans progressiva (FOP) is an extremely rare connective tissue disease.
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FRG1
Protein FRG1 is a protein that in humans is encoded by the FRG1 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 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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GUF1
GUF1 homolog, GTPase is a protein that in humans is encoded by the GUF1 gene.
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Haemophilia C
Haemophilia C (also known as plasma thromboplastin antecedent (PTA) deficiency or Rosenthal syndrome) is a mild form of haemophilia affecting both sexes, due to factor XI deficiency.
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Hemolytic-uremic syndrome
Hemolytic-uremic syndrome (HUS) is a disease characterized by a triad of hemolytic anemia (anemia caused by destruction of red blood cells), acute kidney failure (uremia), and a low platelet count (thrombocytopenia).
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Hereditary benign intraepithelial dyskeratosis
Hereditary benign intraepithelial dyskeratosis is a rare autosomal dominant disease of the conjunctiva and the oral mucosa caused by a duplication of chromosome 4q35.
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Hirschsprung's disease
Hirschsprung's disease (HD or HSCR) is a birth defect in which nerves are missing from parts of the intestine.
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Homeobox
A homeobox is a DNA sequence, around 180 base pairs long, found within genes that are involved in the regulation of patterns of anatomical development (morphogenesis) in animals, fungi and plants.
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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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Huntingtin
The huntingtin gene, also called the HTT or HD (Huntington disease) gene, is the IT15 ("interesting transcript 15") gene, which codes for a protein called the huntingtin protein.
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Huntington's disease
Huntington's disease (HD), also known as Huntington's chorea, is an inherited disorder that results in death of brain cells.
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Hypochondroplasia
Hypochondroplasia (HCH) is a developmental disorder caused by an autosomal dominant genetic defect in the fibroblast growth factor receptor 3 gene (FGFR3) that results in a disproportionately short stature, micromeliaupdate 2013 and a head that appears large in comparison with the underdeveloped portions of the body.
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Interleukin 8
Interleukin 8 (IL8 or chemokine (C-X-C motif) ligand 8, CXCL8) is a chemokine produced by macrophages and other cell types such as epithelial cells, airway smooth muscle cells and endothelial cells.
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INTS12
Integrator complex subunit 12 (Int12) also known as PHD finger protein 22 (PHF22) is a protein that in humans is encoded by the INTS12 gene.
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J chain
A J chain is a protein component of the antibodies IgM and IgA.
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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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KIAA1530
KIAA1530 is a protein that in humans that is encoded by the KIAA1530 gene, also known as UVSSA.
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Kinase insert domain receptor
Kinase insert domain receptor (KDR, a type III receptor tyrosine kinase) also known as vascular endothelial growth factor receptor 2 (VEGFR-2) is a VEGF receptor.
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LCORL
Ligand dependent nuclear receptor corepressor like is a protein that in humans is encoded by the LCORL gene.
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LDB2
LIM domain-binding protein 2 is a protein that in humans is encoded by the LDB2 gene.
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LGI2
Leucine-rich repeat LGI family member 2 is a protein that in humans is encoded by the LGI2 gene.
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LOC100505912
Uncharacterized LOC100505912 is a protein that in humans is encoded by the LOC100505912 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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LSM6
U6 snRNA-associated Sm-like protein LSm6 is a protein that in humans is encoded by the LSM6 gene.
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LYAR
Cell growth-regulating nucleolar protein is a protein that in humans is encoded by the LYAR gene (Ly-1 antibody reactive clone).
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MAB21L2
Mab-21-like 2 (C. elegans) is a protein that in humans is encoded by the MAB21L2 gene.
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Marcksl1 (gene)
MARCKS-like 1 is a protein in humans that is encoded by the Marcksl1 gene.
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Mastermind-like 3 (drosophila)
Mastermind-like 3 (Drosophila) is a protein that in humans is encoded by the MAML3 gene.
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Methylmalonic acidemia
Methylmalonic acidemia (MMA), also called methylmalonic aciduria, is an autosomal recessive metabolic disorder.
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MFSD7
Major facilitator superfamily domain containing 7 is a protein that in humans is encoded by the MFSD7 gene.
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MIR1269A
MicroRNA 1269a is a protein that in humans is encoded by the MIR1269A 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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MLF1IP
Centromere protein U is a protein that in humans is encoded by the MLF1IP gene.
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MMAA
Methylmalonic aciduria type A protein, mitochondrial also known as MMAA is a protein that in humans is encoded by the MMAA gene.
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MTHFD2L
NAD-dependent methylenetetrahydrofolate dehydrogenase 2-like protein (MTHFD2L), also known as bifunctional methylenetetrahydrofolate dehydrogenase/cyclohydrolase 2, is an enzyme that in humans is encoded by the MTHFD2L gene on chromosome 4.
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Mucopolysaccharidosis type I
Mucopolysaccharidosis type I, or MPS I, is a spectrum of diseases in the mucopolysaccharidosis family.
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Muenke syndrome
Muenke syndrome, also known as FGFR3-related craniosynostosis, is a human specific condition characterized by the premature closure of certain bones of the skull during development, which affects the shape of the head and face.
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Myosin light chain 5
Myosin light chain 5 is a protein that, in humans, is encoded by the MYL5 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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Neuron
A neuron, also known as a neurone (British spelling) and nerve cell, is an electrically excitable cell that receives, processes, and transmits information through electrical and chemical signals.
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NOA1
Nitric oxide associated 1 is a protein in humans that is encoded by the NOA1 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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NUDT6
Nucleoside diphosphate-linked moiety X motif 6 is a protein that in humans is encoded by the NUDT6 gene.
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NUDT9
ADP-ribose pyrophosphatase, mitochondrial is an enzyme that in humans is encoded by the NUDT9 gene.
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OTUD4
OTU domain-containing protein 4 is a protein that in humans is encoded by the OTUD4 gene.
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PABPC4L
Poly(A) binding protein, cytoplasmic 4-like is a protein that in humans is encoded by the PABPC4L gene.
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Parkinson's disease
Parkinson's disease (PD) is a long-term degenerative disorder of the central nervous system that mainly affects the motor system.
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PARM1
PARM1, or Prostate androgen-regulated mucin-like protein 1, is a human gene.
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PHOX2B
Paired-like homeobox 2b (PHOX2B), also known as neuroblastoma Phox (NBPhox), is a protein that in humans is encoded by the PHOX2B gene located on chromosome 4.
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PI4K2B
Phosphatidylinositol 4-kinase type 2-beta is an enzyme that in humans is encoded by the PI4K2B gene.
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Platelet factor 4
Platelet factor 4 (PF4) is a small cytokine belonging to the CXC chemokine family that is also known as chemokine (C-X-C motif) ligand 4 (CXCL4).
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PLK4
Serine/threonine-protein kinase PLK4 also known as polo-like kinase 4 is an enzyme that in humans is encoded by the PLK4 gene.
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Polycystic kidney disease
Polycystic kidney disease (PKD or PCKD, also known as polycystic kidney syndrome) is a genetic disorder in which the renal tubules become structurally abnormal, resulting in the development and growth of multiple cysts within the kidney.
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Polycystin 2
Polycystin-2 is a protein that in humans is encoded by the PKD2 gene.
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Protein
Proteins are large biomolecules, or macromolecules, consisting of one or more long chains of amino acid residues.
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PSAPL1
Prosaposin-like 1 (gene/pseudogene) is a protein in humans that is encoded by the PSAPL1 gene.
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Pseudogene
Pseudogenes are segments of DNA that are related to real genes.
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QDPR
QDPR (quinoid dihydropteridine reductase) is a human gene that produces the enzyme quinoid dihydropteridine reductase.
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RBM47
RNA binding motif protein 47 is a protein in humans that is encoded by the RBM47 gene in chromosome 4.
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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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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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SDAD1
Protein SDA1 homolog is a protein that in humans is encoded by the SDAD1 gene.
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SEC24B
Protein transport protein Sec24B is a protein that in humans is encoded by the SEC24B gene.
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SEC24D
Protein transport protein Sec24D is a protein that in humans is encoded by the SEC24D gene.
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SEPT11
Septin-11 is a protein that in humans is encoded by the SEPT11 gene.
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Severe achondroplasia with developmental delay and acanthosis nigricans
Severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN), is a very rare genetic disorder.
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SLC9B2
Solute carrier family 9, subfamily B (NHA2, cation proton antiporter 2), member 2 is a protein that in humans is encoded by the SLC9B2 gene.
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SMIM20
Small integral membrane protein (SMIM) 20 is a protein that in humans is encoded by the SMIM20 gene.
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Solute carrier family 10 member 4
Solute carrier family 10 member 4 is a protein that in humans is encoded by the SLC10A4 gene.
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SPATA5
Spermatogenesis-associated protein 5 is a protein that in humans is encoded by the SPATA5 gene.
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STATH
Statherin is a protein in humans that is encoded by the STATH gene.
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Synuclein
Synucleins are a family of soluble proteins common to vertebrates, primarily expressed in neural tissue and in certain tumors.
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TACC3
Transforming acidic coiled-coil-containing protein 3 is a protein that in humans is encoded by the TACC3 gene.
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TENM3
Teneurin-3, also known as Ten-m3, Odz3, Ten-m/Odz3, Tenascin-like molecule major 3 or Teneurin transmembrane protein 3, is a protein that, in humans, is encoded by the TENM3, or ODZ3, 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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Thanatophoric dysplasia
Thanatophoric dysplasia (thanatophoric dwarfism) is a severe skeletal disorder characterized by a disproportionately small ribcage, extremely short limbs and folds of extra skin on the arms and legs.
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THAP6
THAP domain-containing protein 6 is a protein that in humans is encoded by the THAP6 gene.
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TMPRSS11D
Transmembrane protease, serine 11D is an enzyme that in humans is encoded by the TMPRSS11D gene.
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TNIP2
TNFAIP3-interacting protein 2 is a protein that in humans is encoded by the TNIP2 gene.
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Ubiquitin carboxy-terminal hydrolase L1
Ubiquitin carboxy-terminal hydrolase L1 (ubiquitin C-terminal hydrolase, UCH-L1) is a deubiquitinating enzyme.
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Ubiquitin specific peptidase 38
Ubiquitin specific peptidase 38 is a protein that in humans is encoded by the USP38 gene.
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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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UGT8
2-hydroxyacylsphingosine 1-beta-galactosyltransferase is an enzyme that in humans is encoded by the UGT8 gene.
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UNC5C
Netrin receptor UNC5C is a protein that in humans is encoded by the UNC5C 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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USP53
Inactive ubiquitin carboxyl-terminal hydrolase 53 is an enzyme that in humans is encoded by the USP53 gene.
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UTP3
Something about silencing protein 10 is a protein that in humans is encoded by the UTP3 gene.
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Vascular endothelial growth factor
Vascular endothelial growth factor (VEGF), originally known as vascular permeability factor (VPF), is a signal protein produced by cells that stimulates the formation of blood vessels.
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WFS1
Wolframin is a protein that in humans is encoded by the WFS1 gene.
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Wolf–Hirschhorn syndrome
Wolf–Hirschhorn syndrome (WHS), also known as chromosome deletion Dillan 4p syndrome, Pitt–Rogers–Danks syndrome (PRDS) or Pitt syndrome, is a chromosomal deletion syndrome resulting from a partial deletion from the short arm of chromosome 4 (del(4p16.3)).
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Wolfram syndrome
Wolfram syndrome, also called DIDMOAD (diabetes insipidus, diabetes mellitus, optic atrophy, and deafness), is a rare autosomal-recessive genetic disorder that causes childhood-onset diabetes mellitus, optic atrophy, and deafness as well as various other possible disorders.
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ZGRF1
ZGRF1 is a protein in humans that is encoded by the ZGRF1 gene that has uncharacterised function and a weight of 236.6 kDa.
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Zinc finger protein 621
Zinc finger protein 621 is a protein that in humans is encoded by the ZNF621 gene.
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6,7-dihydropteridine reductase
In enzymology, a 6,7-dihydropteridine reductase is an enzyme that catalyzes the chemical reaction The 3 substrates of this enzyme are 5,6,7,8-tetrahydropteridine, NAD+, and NADP+, whereas its 4 products are 6,7-dihydropteridine, NADH, NADPH, and H+.
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Redirects here:
Chromosome 4 (human), Chromosome Four, Chromosomes, human, pair 4, Human Chromosome 4, Human chromosome 4.
References
[1] https://en.wikipedia.org/wiki/Chromosome_4
