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195 relations: Acute myeloid leukemia, Adiponectin, ALAS1, Alkaptonuria, AMOTL2, APEH (gene), Arbitrary unit, ARHGAP31, ARPP-21, Arrhythmogenic right ventricular dysplasia, Atransferrinemia, Autism, Autosome, AZI2, Base pair, Biotinidase, Biotinidase deficiency, BRK1, Brpf1, Brugada syndrome, C3orf14, C3orf62, C3orf70, CACNA2D3, Carnitine-acylcarnitine translocase, Carnitine-acylcarnitine translocase deficiency, Cataract, Cavernous hemangioma, CCDC80, CCR5, CD200R1, Cell (biology), Centromere, Cereblon, CGGBP1, Charcot–Marie–Tooth disease, Chromosome, CKLF like MARVEL transmembrane domain containing 7, CLDND1, CLRN1, CNBP, Collagen, type VII, alpha 1, Consensus CDS Project, Contactin 4, Coproporphyrinogen III oxidase, CPN2, Dandy–Walker syndrome, Daz interacting zinc finger protein 3, Developmental pluripotency associated 2, Diabetes mellitus, ..., DNA, DNA annotation, DNA-binding protein, Doublecortin like kinase 3, EAF1, EAF2, EFCC1, Ensembl genome database project, ENTPD3, Enzyme, Epidermolysis bullosa dystrophica, Essential tremor, ETM1, Ets variant 5, FAM107A, FAM162A, FAM43A, Family with sequence similarity 19 (chemokine (C-C motif)-like), member A1, FBXL2, Ferm domain containing 4b, FOXP1, FRA3A, G banding, GC-content, Gene, Gene prediction, Glaucoma, Glycogen storage disease, Glycogenin-1, GMPPB, Hailey–Hailey disease, Hearing loss, HEMK1, Hereditary coproporphyria, Hereditary nonpolyposis colorectal cancer, HIGD1A, HIV, Homogentisate 1,2-dioxygenase, HUGO Gene Nomenclature Committee, Human, Human genome, Hypobetalipoproteinemia, Hypothermia, Jansen's metaphyseal chondrodysplasia, Karyotype, KIAA1257, LARS2, Leucine rich repeat containing 15, Leukoencephalopathy with vanishing white matter, LIMD1, LMLN, Locus (genetics), Long intergenic non-protein coding rna 312, Long QT syndrome, LSG1, Lymphoma, Mab-21 domain containing 2, Möbius syndrome, Methylcrotonyl-CoA carboxylase, Microcoria, Microphthalmia-associated transcription factor, Mitosis, MLH1, Moyamoya disease, Mucopolysaccharidosis, Myosin viia and rab interacting protein, Myotonic dystrophy, National Center for Biotechnology Information, Nav1.5, NBEAL2, NDUFAF3, NFKBIZ, NKTR, Non-coding RNA, Nonsyndromic deafness, NPRL2, Nyctalopia, Ovarian cancer, Oxytocin receptor, P110α, Parathyroid hormone 1 receptor, PDCD10, PHD finger protein 7, Poly(adp-ribose) polymerase family member 14, Porphyria, Propionic acidemia, Propionyl-CoA carboxylase, Proser1, Protein, Protein S deficiency, Pseudogene, QRICH1, RAB7A, RBM6, Reference genome, Retinitis pigmentosa, RETNLB, Rhodopsin, RIOX2, Romano–Ward syndrome, RPP14, Seckel syndrome, SELT, SENP7, Sensenbrenner syndrome, Septo-optic dysplasia, SERP1, SETD5, SFMBT1, Short stature, Sodium channel, SOX2, SOX2OT, SPG14, Spinocerebellar ataxia, SRPRB, STT3B, Sucrose intolerance, SYNPR, TCAIM, Telokin, Teratocarcinoma-derived growth factor 1, TIMMDC1, TM4SF1, TMEM158, TRAK1, TRANK1, TRAT1, TUSC2, UCN2, UCSC Genome Browser, UniProt, Usher syndrome, Vestigial-like family member 3, Von Hippel–Lindau disease, Von Hippel–Lindau tumor suppressor, Waardenburg syndrome, Xeroderma pigmentosum, Zinc finger bed-type containing 2, Zinc finger protein 502, Zinc finger protein 621, ZMYND10, 3-hydroxyacyl-CoA dehydratase 2, 3-Methylcrotonyl-CoA carboxylase deficiency, 3q29 microdeletion syndrome. Expand index (145 more) »
Acute myeloid leukemia
Acute myeloid leukemia (AML) is a cancer of the myeloid line of blood cells, characterized by the rapid growth of abnormal cells that build up in the bone marrow and blood and interfere with normal blood cells.
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Adiponectin
Adiponectin (also referred to as GBP-28, apM1, AdipoQ and Acrp30) is a protein hormone which is involved in regulating glucose levels as well as fatty acid breakdown.
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ALAS1
Delta-aminolevulinate synthase 1 also known as ALAS1 is a protein that in humans is encoded by the ALAS1 gene.
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Alkaptonuria
Alkaptonuria is a rare inherited genetic disorder in which the body cannot process the amino acids phenylalanine and tyrosine, which occur in protein.
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AMOTL2
Angiomotin-like protein 2 is a protein that in humans is encoded by the AMOTL2 gene.
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APEH (gene)
Acylamino-acid-releasing enzyme is an enzyme that in humans is encoded by the APEH 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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ARHGAP31
The Rho GTPase activating protein 31 is encoded in humans by the ARHGAP31 gene.
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ARPP-21
Cyclic AMP-regulated phosphoprotein, 21 kD, also known as ARPP-21, is a human gene.
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Arrhythmogenic right ventricular dysplasia
Arrhythmogenic right ventricular dysplasia (ARVD), or arrhythmogenic right ventricular cardiomyopathy (ARVC), is an inherited heart disease.
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Atransferrinemia
Atransferrinemia, also called familial hypotransferrinemia, is an autosomal recessive metabolic disorder in which there is an absence of transferrin, a plasma protein that transports iron through the blood.
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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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AZI2
5-azacytidine-induced protein 2 is a protein that in humans is encoded by the AZI2 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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Biotinidase
Biotinidase (amidohydrolase biotinidase, BTD) is an enzyme that in humans is encoded by the BTD gene.
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Biotinidase deficiency
Biotinidase deficiency is an autosomal recessive metabolic disorder in which biotin is not released from proteins in the diet during digestion or from normal protein turnover in the cell.
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BRK1
Probable protein BRICK1 is a protein that in humans is encoded by the C3orf10 gene.
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Brpf1
Peregrin also known as bromodomain and PHD finger-containing protein 1 is a protein that in humans is encoded by the BRPF1 gene located on 3p26-p25.
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Brugada syndrome
Brugada syndrome (BrS) is a genetic condition that results in abnormal electrical activity within the heart, increasing the risk of sudden cardiac death.
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C3orf14
The human gene Chromosome 3 open reading frame 14 is a gene of uncertain function located at 3p14.2 near fragile site FRBA3—which falls between this gene and the centromere.
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C3orf62
Chromosome 3 Open Reading Frame 62 (C3orf62), is a protein that in humans is encoded by the C3orf62 gene.
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C3orf70
C3orf70 also known as Chromosome 3 Open Reading Frame 70, is a 250aa protein in humans that is encoded by the C3orf70 gene.
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CACNA2D3
Calcium channel, voltage-dependent, alpha 2/delta subunit 3 is a protein that in humans is encoded by the CACNA2D3 gene on chromosome 3 (locus 3p21.1).
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Carnitine-acylcarnitine translocase
Carnitine-acylcarnitine translocase is responsible for transporting both carnitine-fatty acid complexes and carnitine across the inner mitochondrial membrane.
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Carnitine-acylcarnitine translocase deficiency
Carnitine-acylcarnitine translocase deficiency is a rare, autosomal recessive metabolic disorder that prevents the body from converting long-chain fatty acids into energy, particularly during periods without food.
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Cataract
A cataract is a clouding of the lens in the eye which leads to a decrease in vision.
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Cavernous hemangioma
Cavernous hemangioma, also called cavernous angioma, cavernoma, or cerebral cavernous malformation (CCM) (when referring to presence in the brain) is a type of blood vessel malformation or hemangioma, where a collection of dilated blood vessels form a benign tumor.
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CCDC80
Coiled-coil domain-containing protein 80 is a protein that in humans is encoded by the CCDC80 gene.
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CCR5
C-C chemokine receptor type 5, also known as CCR5 or CD195, is a protein on the surface of white blood cells that is involved in the immune system as it acts as a receptor for chemokines.
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CD200R1
Cell surface trasmembrane glycoprotein CD200 receptor 1 is a protein that in humans is encoded by the CD200R1 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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Cereblon
Cereblon is a protein that in humans is encoded by the CRBN gene.
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CGGBP1
CGG triplet repeat-binding protein 1 is a protein that in humans is encoded by the CGGBP1 gene.
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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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CKLF like MARVEL transmembrane domain containing 7
CKLF like MARVEL transmembrane domain containing 7 is a protein that in humans is encoded by the CMTM7 gene.
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CLDND1
Claudin domain-containing protein 1 is a protein that in humans is encoded by the CLDND1 gene.
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CLRN1
Clarin-1 is a protein that in humans is encoded by the CLRN1 gene.
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CNBP
Cellular nucleic acid-binding protein is a protein that in humans is encoded by the CNBP gene.
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Collagen, type VII, alpha 1
Collagen alpha-1(VII) chain is a protein that in humans is encoded by the COL7A1 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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Contactin 4
Contactin-4 is a protein that in humans is encoded by the CNTN4 gene.
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Coproporphyrinogen III oxidase
Coproporphyrinogen-III oxidase, mitochondrial (abbreviated as CPOX) is an enzyme that in humans is encoded by the CPOX gene.
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CPN2
Carboxypeptidase N subunit 2 is an enzyme that in humans is encoded by the CPN2 gene.
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Dandy–Walker syndrome
Dandy–Walker syndrome (DWS) is a rare group of congenital human brain malformations.
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Daz interacting zinc finger protein 3
DAZ interacting zinc finger protein 3 is a protein that in humans is encoded by the DZIP3 gene.
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Developmental pluripotency associated 2
Developmental pluripotency-associated protein 2 is a protein that in humans is encoded by the DPPA2 gene.
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Diabetes mellitus
Diabetes mellitus (DM), commonly referred to as diabetes, is a group of metabolic disorders in which there are high blood sugar levels over a prolonged period.
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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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DNA-binding protein
DNA-binding proteins are proteins that have DNA-binding domains and thus have a specific or general affinity for single- or double-stranded DNA.
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Doublecortin like kinase 3
Doublecortin like kinase 3 is a protein that in humans is encoded by the DCLK3 gene.
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EAF1
ELL-associated factor 1 is a protein that in humans is encoded by the EAF1 gene.
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EAF2
ELL-associated factor 2 is a protein that in humans is encoded by the EAF2 gene.
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EFCC1
EF-hand and coiled-coil domain containing 1 is a protein that in humans is encoded by the EFCC1 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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ENTPD3
Ectonucleoside triphosphate diphosphohydrolase 3 is an enzyme that in humans is encoded by the ENTPD3 gene.
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Enzyme
Enzymes are macromolecular biological catalysts.
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Epidermolysis bullosa dystrophica
Epidermolysis bullosa dystrophica or dystrophic EB (DEB) is an inherited disease affecting the skin and other organs.
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Essential tremor
Essential tremor (ET, also referred to as benign tremor, familial tremor, or idiopathic tremor) is a progressive neurological disorder that is also the most common movement disorder.
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ETM1
ETM1 is a gene associated with essential tremor.
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Ets variant 5
Ets variant 5 (ETV5) is a protein that in humans is encoded by the ETV5 gene and its ortholog has been linked to both obesity and bipolar disorder.
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FAM107A
Protein FAM107A is a protein that in humans is encoded by the FAM107A gene.
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FAM162A
Human growth and transformation-dependent protein (HGTD-P), also called E2-induced gene 5 protein (E2IG5), is a protein that in humans is encoded by the FAM162A gene on chromosome 3.
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FAM43A
The family with sequence similarity 43 member A (FAM43A) gene, also known as; GCO3P195887, GC03P194406, GC03P191784, and NM_153690.3, codes for a 423 bp protein that is conserved in primates, and orthologs have been found in vertebrate and invertebrate species.
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Family with sequence similarity 19 (chemokine (C-C motif)-like), member A1
Protein FAM19A1 is a protein that in humans is encoded by the FAM19A1 gene.
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FBXL2
F-box/LRR-repeat protein 2 is a protein that in humans is encoded by the FBXL2 gene.
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Ferm domain containing 4b
FERM domain containing 4B is a protein that in humans is encoded by the FRMD4B gene.
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FOXP1
Forkhead box protein P1 is a protein that in humans is encoded by the FOXP1 gene.
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FRA3A
Fragile site, aphidicolin type, common, fra(3)(p24.2) is a protein that in humans is encoded by the FRA3A 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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Glaucoma
Glaucoma is a group of eye diseases which result in damage to the optic nerve and vision loss.
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Glycogen storage disease
A glycogen storage disease (GSD, also glycogenosis and dextrinosis) is a metabolic disorder caused by enzyme deficiencies affecting either glycogen synthesis, glycogen breakdown or glycolysis (glucose breakdown), typically within muscles and/or liver cells.
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Glycogenin-1
Glycogenin-1 is an enzyme that is involved in the biosynthesis of glycogen.
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GMPPB
Mannose-1-phosphate guanyltransferase beta is an enzyme that in humans is encoded by the GMPPB gene.
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Hailey–Hailey disease
Hailey–Hailey disease, or familial benign chronic pemphigusJames, William; Berger, Timothy; Elston, Dirk (2005).
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Hearing loss
Hearing loss, also known as hearing impairment, is a partial or total inability to hear.
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HEMK1
HemK methyltransferase family member 1 is a protein that in humans is encoded by the HEMK1 gene.
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Hereditary coproporphyria
Hereditary coproporphyria (HCP) is a disorder of heme biosynthesis, classified as an acute hepatic porphyria.
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Hereditary nonpolyposis colorectal cancer
Hereditary nonpolyposis colorectal cancer (HNPCC) or Lynch syndrome is an autosomal dominant genetic condition that has a high risk of colon cancer as well as other cancers including endometrial cancer (second most common), ovary, stomach, small intestine, hepatobiliary tract, upper urinary tract, brain, and skin.
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HIGD1A
HIG1 domain family member 1A (HIGD1A), also known as hypoglycemia/hypoxia inducible mitochondrial protein1-a (HIMP1-a) and hypoxia induced gene 1 (HIG1), is a protein that in humans is encoded by the HIGD1A gene on chromosome 3.
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HIV
The human immunodeficiency virus (HIV) is a lentivirus (a subgroup of retrovirus) that causes HIV infection and over time acquired immunodeficiency syndrome (AIDS).
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Homogentisate 1,2-dioxygenase
Homogentisate 1,2-dioxygenase (homogentisic acid oxidase, homogentisicase) is an enzyme which catalyzes the conversion of homogentisate to 4-maleylacetoacetate.
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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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Hypobetalipoproteinemia
Hypobetalipoproteinemia is a disorder consisting of low levels of LDL cholesterol or apolipoprotein B, below the 5th percentile.
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Hypothermia
Hypothermia is reduced body temperature that happens when a body dissipates more heat than it absorbs.
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Jansen's metaphyseal chondrodysplasia
Jansen's metaphyseal chondrodysplasia (JMC) is a disease that results from ligand-independent activation of the type 1 (PTHR1) of the parathyroid hormone receptor, due to one of three reported mutations (activating mutation).
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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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KIAA1257
KIAA1257 is a protein that in humans is encoded by the KIAA1257 gene.
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LARS2
Probable leucyl-tRNA synthetase, mitochondrial is an enzyme that in humans is encoded by the LARS2 gene.
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Leucine rich repeat containing 15
Leucine rich repeat containing 15 is a protein that in humans is encoded by the LRRC15 gene.
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Leukoencephalopathy with vanishing white matter
Leukoencephalopathy with vanishing white matter (VWM disease) is an autosomal recessive neurological disease.
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LIMD1
LIM domain-containing protein 1 is a protein that in humans is encoded by the LIMD1 gene.
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LMLN
Leishmanolysin-like (metallopeptidase M8 family) is a protein that in humans is encoded by the LMLN 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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Long intergenic non-protein coding rna 312
Long intergenic non-protein coding RNA 312 is a protein that in humans is encoded by the LINC00312 gene.
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Long QT syndrome
Long QT syndrome (LQTS) is a condition which affects repolarization of the heart after a heartbeat.
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LSG1
Large subunit GTPase 1 homolog is an enzyme that in humans is encoded by the LSG1 gene.
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Lymphoma
Lymphoma is a group of blood cancers that develop from lymphocytes (a type of white blood cell).
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Mab-21 domain containing 2
Mab-21 domain containing 2 is a protein in humans that is encoded by the MB21D2 gene.
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Möbius syndrome
Möbius syndrome (also spelt Moebius) is an extremely rare congenital neurological disorder which is characterized by facial paralysis and the inability to move the eyes from side to side.
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Methylcrotonyl-CoA carboxylase
Methylcrotonyl CoA carboxylase (MCC) (3-methylcrotonyl CoA carboxylase, methylcrotonoyl-CoA carboxylase) is a biotin-requiring enzyme located in the mitochondria.
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Microcoria
Microcoria is a congenital disease in which the pupils of the subject are narrower than 2 mm in diameter.
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Microphthalmia-associated transcription factor
Microphthalmia-associated transcription factor also known as class E basic helix-loop-helix protein 32 or bHLHe32 is a protein that in humans is encoded by the MITF 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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MLH1
MutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli) is a protein that in humans is encoded by the MLH1 gene located on Chromosome 3.
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Moyamoya disease
Moyamoya disease is a disease in which certain arteries in the brain are constricted.
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Mucopolysaccharidosis
Mucopolysaccharidoses are a group of metabolic disorders caused by the absence or malfunctioning of lysosomal enzymes needed to break down molecules called glycosaminoglycans.
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Myosin viia and rab interacting protein
Myosin VIIA and Rab interacting protein is a protein that in humans is encoded by the MYRIP gene.
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Myotonic dystrophy
Myotonic dystrophy is a long term genetic disorder that affects muscle function.
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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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Nav1.5
NaV1.5 is an integral membrane protein and tetrodotoxin-resistant voltage-gated sodium channel subunit.
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NBEAL2
Neurobeachin-like 2 is a protein that in humans is encoded by the NBEAL2 gene.
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NDUFAF3
NADH dehydrogenase 1 alpha subcomplex assembly factor 3 is an enzyme that in humans is encoded by the NDUFAF3 gene.
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NFKBIZ
NF-kappa-B inhibitor zeta is a protein that in humans is encoded by the NFKBIZ gene.
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NKTR
NK-tumor recognition protein is a protein that in humans is encoded by the NKTR 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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NPRL2
Nitrogen permease regulator 2-like protein (NPRL2) also known as tumor suppressor candidate 4 (TUSC4) is a protein that in humans is encoded by the NPRL2 gene.
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Nyctalopia
Nyctalopia, also called night-blindness, is a condition making it difficult or impossible to see in relatively low light.
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Ovarian cancer
Ovarian cancer is a cancer that forms in or on an ovary.
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Oxytocin receptor
The oxytocin receptor, also known as OXTR, is a protein which functions as receptor for the hormone and neurotransmitter oxytocin.
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P110α
The phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha (the HUGO-approved official symbol.
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Parathyroid hormone 1 receptor
Parathyroid hormone/parathyroid hormone-related peptide receptor, also known as parathyroid hormone 1 receptor (PTH1R), is a protein that in humans is encoded by the PTH1R gene.
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PDCD10
Programmed cell death protein 10 is a protein that in humans is encoded by the PDCD10 gene.
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PHD finger protein 7
PHD finger protein 7 is a protein that in humans is encoded by the PHF7 gene.
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Poly(adp-ribose) polymerase family member 14
Poly(ADP-ribose) polymerase family member 14 is a protein that, in humans, is encoded by the PARP14 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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Propionic acidemia
Propionic acidemia, also known as propionic aciduria, propionyl-CoA carboxylase deficiency, and ketotic glycinemia, is a rare autosomal recessive metabolic disorder, classified as a branched-chain organic acidemia.
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Propionyl-CoA carboxylase
Propionyl-CoA carboxylase catalyses the carboxylation reaction of propionyl CoA in the mitochondrial matrix.
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Proser1
PROSER1 is a protein that in humans is encoded by the PROSER1 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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Protein S deficiency
Protein S deficiency is a disorder associated with increased risk of venous thrombosis.
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Pseudogene
Pseudogenes are segments of DNA that are related to real genes.
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QRICH1
QRICH1, also known as Glutamine-rich protein 1, is a protein that in humans is encoded by the QRICH1 gene.
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RAB7A
Ras-related protein Rab-7a is a protein that in humans is encoded by the RAB7A gene.
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RBM6
RNA-binding protein 6 is a protein that in humans is encoded by the RBM6 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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Retinitis pigmentosa
Retinitis pigmentosa (RP) is a genetic disorder of the eyes that causes loss of vision.
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RETNLB
Resistin-like beta is a protein that in humans is encoded by the RETNLB gene.
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Rhodopsin
Rhodopsin (also known as visual purple) is a light-sensitive receptor protein involved in visual phototransduction.
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RIOX2
Ribosomal oxygenase 2 is a protein that in humans is encoded by the RIOX2 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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RPP14
Ribonuclease P protein subunit p14 is an enzyme that in humans is encoded by the RPP14 gene.
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Seckel syndrome
The Seckel syndrome or microcephalic primordial dwarfism (also known as bird-headed dwarfism, Harper's syndrome, Virchow-Seckel dwarfism, and Bird-headed dwarf of Seckel) is an extremely rare congenital nanosomic disorder.
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SELT
Selenoprotein T, also known as SELT, is a protein that in humans is encoded by the SELT gene.
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SENP7
Sentrin-specific protease 7 is an enzyme that in humans is encoded by the SENP7 gene.
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Sensenbrenner syndrome
Sensenbrenner syndrome (OMIM #218330) is a rare (less than 20 cases reported by 2010) multisystem disease first described in 1975.
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Septo-optic dysplasia
Septo-optic dysplasia (SOD), (de Morsier syndrome) is a rare congenital malformation syndrome featuring underdevelopment of the optic nerve, pituitary gland dysfunction, and absence of the septum pellucidum (a midline part of the brain).
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SERP1
Stress-associated endoplasmic reticulum protein 1 is a protein that in humans is encoded by the SERP1 gene.
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SETD5
SET domain containing 5 is a protein that in humans is encoded by the SETD5 gene.
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SFMBT1
Scm-like with four mbt domains 1 is a protein that in humans is encoded by the SFMBT1 gene.
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Short stature
Short stature refers to a height of a human being which is below typical.
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Sodium channel
Sodium channels are integral membrane proteins that form ion channels, conducting sodium ions (Na+) through a cell's plasma membrane.
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SOX2
SRY (sex determining region Y)-box 2, also known as SOX2, is a transcription factor that is essential for maintaining self-renewal, or pluripotency, of undifferentiated embryonic stem cells.
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SOX2OT
SOX2 overlapping transcript (SOX2OT) is a long non-coding RNA, containing at least 5 exons.
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SPG14
Spastic paraplegia 14 (autosomal recessive) is a protein that in humans is encoded by the SPG14 gene.
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Spinocerebellar ataxia
Spinocerebellar ataxia (SCA), also known as spinocerebellar atrophy or spinocerebellar degeneration, is a progressive, degenerative, genetic disease with multiple types, each of which could be considered a disease in its own right.
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SRPRB
Signal recognition particle receptor subunit beta is a protein that in humans is encoded by the SRPRB gene.
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STT3B
Dolichyl-diphosphooligosaccharide—protein glycosyltransferase subunit STT3B is an enzyme that in humans is encoded by the STT3B gene.
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Sucrose intolerance
Sucrose intolerance, also called sucrase-isomaltase deficiency, congenital sucrase-isomaltase deficiency (CSID), or genetic sucrase-isomaltase deficiency (GSID), is the condition in which sucrase-isomaltase, an enzyme needed for proper metabolism of sucrose (sugar) and starch (i.e., grains and rice), is not produced or the enzyme produced is either partially functional or non-functional in the small intestine.
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SYNPR
Synaptoporin is a protein that in humans is encoded by the SYNPR gene.
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TCAIM
TCAIM is a protein that in humans is encoded by the TCAIM gene (T-cell activation inhibitor, mitochondrial).
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Telokin
Telokin (also known as kinase-related protein or KRP) is an abundant protein found in smooth-muscle.
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Teratocarcinoma-derived growth factor 1
Teratocarcinoma-derived growth factor 1 is a protein that in humans is encoded by the TDGF1 gene.
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TIMMDC1
TIMMDC1 is a protein that in humans is encoded by the TIMMDC1 gene.
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TM4SF1
Transmembrane 4 L6 family member 1 is a protein that in humans is encoded by the TM4SF1 gene.
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TMEM158
Transmembrane protein 158 is a protein that in humans is encoded by the TMEM158 gene.
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TRAK1
Trafficking kinesin-binding protein 1 is a protein that in humans is encoded by the TRAK1 gene.
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TRANK1
Tetratricopeptide repeat and ankyrin repeat containing 1 is a protein that in humans is encoded by the TRANK1 gene.
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TRAT1
T-cell receptor-associated transmembrane adapter 1 is a protein that in humans is encoded by the TRAT1 gene.
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TUSC2
Tumor suppressor candidate 2 is a protein that in humans is encoded by the TUSC2 gene.
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UCN2
Urocortin-2 is a protein that in humans is encoded by the UCN2 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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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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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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Vestigial-like family member 3
Vestigial-like family member 3 is a protein that in humans is encoded by the VGLL3 gene.
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Von Hippel–Lindau disease
von Hippel–Lindau disease (VHL), also known as Familial cerebello retinal angiomatosis, is a rare genetic disorder with multisystem involvement.
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Von Hippel–Lindau tumor suppressor
The von Hippel–Lindau tumor suppressor also known as pVHL is a protein that in humans is encoded by the VHL gene.
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Waardenburg syndrome
Waardenburg syndrome is a rare genetic disorder most often characterized by varying degrees of deafness, minor defects in structures arising from the neural crest, and pigmentation changes.
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Xeroderma pigmentosum
Xeroderma pigmentosum (XP) is a genetic disorder in which there is a decreased ability to repair DNA damage such as that caused by ultraviolet (UV) light.
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Zinc finger bed-type containing 2
Zinc finger BED-type containing 2 is a protein that in humans is encoded by the ZBED2 gene.
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Zinc finger protein 502
Zinc finger protein 502 is a protein that in humans is encoded by the ZNF502 gene.
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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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ZMYND10
Zinc finger MYND domain-containing protein 10 is a protein that in humans is encoded by the ZMYND10 gene.
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3-hydroxyacyl-CoA dehydratase 2
3-hydroxyacyl-CoA dehydratase 2 is a protein that in humans is encoded by the HACD2 gene.
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3-Methylcrotonyl-CoA carboxylase deficiency
3-Methylcrotonyl-CoA carboxylase deficiency (3MCC deficiency), also known as 3-Methylcrotonylglycinuria or BMCC deficiency is an inherited disorder in which the body is unable to process certain proteins properly.
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3q29 microdeletion syndrome
3q29 microdeletion syndrome is a rare genetic disorder resulting from the deletion of a segment of chromosome 3.
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Redirects here:
Chromosome 3 (human), Chromosome 3q, Chromosomes, human, pair 3, Human Chromosome 3, Human chromosome 3, List of human genes on chromosome 3.
References
[1] https://en.wikipedia.org/wiki/Chromosome_3
