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- C3: complement component 3
- C9orf72: chromosome 9 open reading frame 72
- C10orf2: chromosome 10 open reading frame 2
- CACNA1A: calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
- CACNA1C: calcium channel, voltage-dependent, L type, alpha 1C subunit
- CACNA1F: calcium channel, voltage-dependent, L type, alpha 1F subunit
- CACNA1S: calcium channel, voltage-dependent, L type, alpha 1S subunit
- CACNB4: calcium channel, voltage-dependent, beta 4 subunit
- CAPN3: calpain 3, (p94)
- CASQ2: calsequestrin 2 (cardiac muscle)
- CASR: calcium-sensing receptor
- CATSPER1: cation channel, sperm associated 1
- CATSPER2: cation channel, sperm associated 2
- CAV3: caveolin 3
- CBS: cystathionine-beta-synthase
- CCM2: cerebral cavernous malformation 2
- CD40LG: CD40 ligand
- CDAN1: codanin 1
- CDC73: cell division cycle 73, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)
- CDH1: cadherin 1, type 1, E-cadherin (epithelial)
- CDH23: cadherin-related 23
- CDKL5: cyclin-dependent kinase-like 5
- CDKN1C: cyclin-dependent kinase inhibitor 1C (p57, Kip2)
- CEBPA: CCAAT/enhancer binding protein (C/EBP), alpha
- CEP290: centrosomal protein 290kDa
- CFH: complement factor H
- CFHR5: complement factor H-related 5
- CFI: complement factor I
- CFTR: cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)
- CHAT: choline O-acetyltransferase
- CHD7: chromodomain helicase DNA binding protein 7
- CHEK2: checkpoint kinase 2
- CHM: choroideremia (Rab escort protein 1)
- CHMP2B: charged multivesicular body protein 2B
- CHN1: chimerin 1
- CHRNA2: cholinergic receptor, nicotinic, alpha 2 (neuronal)
- CHRNA4: cholinergic receptor, nicotinic, alpha 4 (neuronal)
- CHRNB2: cholinergic receptor, nicotinic, beta 2 (neuronal)
- CHRNE: cholinergic receptor, nicotinic, epsilon (muscle)
- CHRNG: cholinergic receptor, nicotinic, gamma (muscle)
- CHST3: carbohydrate (chondroitin 6) sulfotransferase 3
- CIRH1A: cirrhosis, autosomal recessive 1A (cirhin)
- CISD2: CDGSH iron sulfur domain 2
- CLCF1: cardiotrophin-like cytokine factor 1
- CLCN1: chloride channel, voltage-sensitive 1
- CLCN5: chloride channel, voltage-sensitive 5
- CLCN7: chloride channel, voltage-sensitive 7
- CLCNKA: chloride channel, voltage-sensitive Ka
- CLCNKB: chloride channel, voltage-sensitive Kb
- CLDN14: claudin 14
- CLIP2: CAP-GLY domain containing linker protein 2
- CLN3: ceroid-lipofuscinosis, neuronal 3
- CLRN1: clarin 1
- CNBP: CCHC-type zinc finger, nucleic acid binding protein
- CNGA3: cyclic nucleotide gated channel alpha 3
- CNGB3: cyclic nucleotide gated channel beta 3
- COCH: coagulation factor C homolog, cochlin (Limulus polyphemus)
- COL1A1: collagen, type I, alpha 1
- COL1A2: collagen, type I, alpha 2
- COL2A1: collagen, type II, alpha 1
- COL3A1: collagen, type III, alpha 1
- COL4A1: collagen, type IV, alpha 1
- COL4A3: collagen, type IV, alpha 3 (Goodpasture antigen)
- COL4A4: collagen, type IV, alpha 4
- COL4A5: collagen, type IV, alpha 5
- COL5A1: collagen, type V, alpha 1
- COL5A2: collagen, type V, alpha 2
- COL6A1: collagen, type VI, alpha 1
- COL6A2: collagen, type VI, alpha 2
- COL6A3: collagen, type VI, alpha 3
- COL7A1: collagen, type VII, alpha 1
- COL8A2: collagen, type VIII, alpha 2
- COL9A1: collagen, type IX, alpha 1
- COL9A2: collagen, type IX, alpha 2
- COL9A3: collagen, type IX, alpha 3
- COL11A1: collagen, type XI, alpha 1
- COL11A2: collagen, type XI, alpha 2
- COL17A1: collagen, type XVII, alpha 1
- COL18A1: collagen, type XVIII, alpha 1
- COLQ: collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase
- COMP: cartilage oligomeric matrix protein
- COMT: catechol-O-methyltransferase
- CP: ceruloplasmin (ferroxidase)
- CPOX: coproporphyrinogen oxidase
- CPS1: carbamoyl-phosphate synthase 1, mitochondrial
- CPT1A: carnitine palmitoyltransferase 1A (liver)
- CPT2: carnitine palmitoyltransferase 2
- CRB1: crumbs homolog 1 (Drosophila)
- CREBBP: CREB binding protein
- CRLF1: cytokine receptor-like factor 1
- CRTAP: cartilage associated protein
- CSF1R: colony stimulating factor 1 receptor
- CST3: cystatin C
- CSTB: cystatin B (stefin B)
- CTDP1: CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1
- CTNNB1: catenin (cadherin-associated protein), beta 1, 88kDa
- CTNND2: catenin (cadherin-associated protein), delta 2
- CTNS: cystinosin, lysosomal cystine transporter
- CTSA: cathepsin A
- CUL7: cullin 7
- CYBA: cytochrome b-245, alpha polypeptide
- CYBB: cytochrome b-245, beta polypeptide
- CYLD: cylindromatosis (turban tumor syndrome)
- CYP1B1: cytochrome P450, family 1, subfamily B, polypeptide 1
- CYP4V2: cytochrome P450, family 4, subfamily V, polypeptide 2
- CYP11B1: cytochrome P450, family 11, subfamily B, polypeptide 1
- CYP11B2: cytochrome P450, family 11, subfamily B, polypeptide 2
- CYP21A2: cytochrome P450, family 21, subfamily A, polypeptide 2
- CYP27A1: cytochrome P450, family 27, subfamily A, polypeptide 1
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