System process

System process

• ACVRL1: activin A receptor type II-like 1
• ALDH5A1: aldehyde dehydrogenase 5 family, member A1
• ALDH7A1: aldehyde dehydrogenase 7 family, member A1
• APOE: apolipoprotein E
• APP: amyloid beta (A4) precursor protein
• ATP1A2: ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide
• ATP2B2: ATPase, Ca++ transporting, plasma membrane 2
• BEST1: bestrophin 1
• BMPR2: bone morphogenetic protein receptor, type II (serine/threonine kinase)
• CACNA1F: calcium channel, voltage-dependent, L type, alpha 1F subunit
• CACNA1S: calcium channel, voltage-dependent, L type, alpha 1S subunit
• CDH23: cadherin-like 23
• CHD7: chromodomain helicase DNA binding protein 7
• CHM: choroideremia (Rab escort protein 1)
• CHRNA4: cholinergic receptor, nicotinic, alpha 4
• CHRNB2: cholinergic receptor, nicotinic, beta 2 (neuronal)
• CLCN1: chloride channel 1, skeletal muscle
• CLN3: ceroid-lipofuscinosis, neuronal 3
• CLRN1: clarin 1
• CNGA3: cyclic nucleotide gated channel alpha 3
• CNGB3: cyclic nucleotide gated channel beta 3
• COCH: coagulation factor C homolog, cochlin (Limulus polyphemus)
• COL11A1: collagen, type XI, alpha 1
• COL11A2: collagen, type XI, alpha 2
• COL1A1: collagen, type I, alpha 1
• COL1A2: collagen, type I, alpha 2
• COL2A1: collagen, type II, alpha 1
• COL4A3: collagen, type IV, alpha 3 (Goodpasture antigen)
• COL4A4: collagen, type IV, alpha 4
• CPS1: carbamoyl-phosphate synthetase 1, mitochondrial
• CTNS: cystinosis, nephropathic
• CYP1B1: cytochrome P450, family 1, subfamily B, polypeptide 1
• DBH: dopamine beta-hydroxylase (dopamine beta-monooxygenase)
• DFNA5: deafness, autosomal dominant 5
• DFNB31: deafness, autosomal recessive 31
• DMPK: dystrophia myotonica-protein kinase
• DNAJC19: DnaJ (Hsp40) homolog, subfamily C, member 19
• DRD3: dopamine receptor D3
• EDN3: endothelin 3
• EDNRB: endothelin receptor type B
• EIF2B2: eukaryotic translation initiation factor 2B, subunit 2 beta, 39kDa
• EIF2B4: eukaryotic translation initiation factor 2B, subunit 4 delta, 67kDa
• EIF2B5: eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa
• ELN: elastin
• EMD: emerin
• ERAP1: endoplasmic reticulum aminopeptidase 1
• EYA1: eyes absent homolog 1 (Drosophila)
• EYA4: eyes absent homolog 4 (Drosophila)
• GAA: glucosidase, alpha; acid
• GAMT: guanidinoacetate N-methyltransferase
• GCH1: GTP cyclohydrolase 1
• GJA1: gap junction protein, alpha 1, 43kDa
• GJB2: gap junction protein, beta 2, 26kDa
• GJB6: gap junction protein, beta 6, 30kDa
• GNAS: GNAS complex locus
• GNAT2: guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 2
• GPR143: G protein-coupled receptor 143
• GPR98: G protein-coupled receptor 98
• GRHPR: glyoxylate reductase/hydroxypyruvate reductase
• KCNA1: potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia)
• KCNE1: potassium voltage-gated channel, Isk-related family, member 1
• KCNE2: potassium voltage-gated channel, Isk-related family, member 2
• KCNH2: potassium voltage-gated channel, subfamily H (eag-related), member 2
• KCNQ1: potassium voltage-gated channel, KQT-like subfamily, member 1
• KCNQ4: potassium voltage-gated channel, KQT-like subfamily, member 4
• KIF1B: kinesin family member 1B
• LDLR: low density lipoprotein receptor
• MPZ: myelin protein zero
• MTHFR: 5,10-methylenetetrahydrofolate reductase (NADPH)
• MYH7: myosin, heavy chain 7, cardiac muscle, beta
• MYO15A: myosin XVA
• MYO1A: myosin IA
• MYO7A: myosin VIIA
• NDP: Norrie disease (pseudoglioma)
• NF1: neurofibromin 1
• OAT: ornithine aminotransferase (gyrate atrophy)
• OPA1: optic atrophy 1 (autosomal dominant)
• OPA3: optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia)
• OPN1LW: opsin 1 (cone pigments), long-wave-sensitive
• OPN1MW: opsin 1 (cone pigments), medium-wave-sensitive
• OPN1SW: opsin 1 (cone pigments), short-wave-sensitive
• OTOF: otoferlin
• PABPN1: poly(A) binding protein, nuclear 1
• PAH: phenylalanine hydroxylase
• PAX2: paired box 2
• PAX3: paired box 3
• PAX6: paired box 6
• PCDH15: protocadherin 15
• PLP1: proteolipid protein 1
• PMP22: peripheral myelin protein 22
• POU3F4: POU class 3 homeobox 4
• PROK2: prokineticin 2
• PRPH2: peripherin 2 (retinal degeneration, slow)
• PRX: periaxin
• RS1: retinoschisin 1
• RYR1: ryanodine receptor 1 (skeletal)
• SBDS: Shwachman-Bodian-Diamond syndrome
• SBF2: SET binding factor 2
• SCN4A: sodium channel, voltage-gated, type IV, alpha subunit
• SCN5A: sodium channel, voltage-gated, type V, alpha subunit
• SERPING1: serpin peptidase inhibitor, clade G (C1 inhibitor), member 1
• SLC12A6: solute carrier family 12 (potassium/chloride transporters), member 6
• SLC1A3: solute carrier family 1 (glial high affinity glutamate transporter), member 3
• SLC26A4: solute carrier family 26, member 4
• SNCAIP: synuclein, alpha interacting protein
• SOD1: superoxide dismutase 1, soluble
• TAZ: tafazzin
• TECTA: tectorin alpha
• TH: tyrosine hydroxylase
• TTN: titin
• TYR: tyrosinase (oculocutaneous albinism IA)
• USH1C: Usher syndrome 1C (autosomal recessive, severe)
• USH1G: Usher syndrome 1G (autosomal recessive)
• USH2A: Usher syndrome 2A (autosomal recessive, mild)
• VLDLR: very low density lipoprotein receptor
• WFS1: Wolfram syndrome 1 (wolframin)

Source: Gene Ontology Consortium (June 2009).