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- 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
- CBS: cystathionine-beta-synthase
- CCM2: cerebral cavernous malformation 2
- CD40LG: CD40 ligand
- CDAN1: congenital dyserythropoietic anemia, type I
- CDH1: cadherin 1, type 1, E-cadherin (epithelial)
- CDH23: cadherin-like 23
- CDKL5: cyclin-dependent kinase-like 5
- CDKN1C: cyclin-dependent kinase inhibitor 1C (p57, Kip2)
- CFTR: cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)
- CHD7: chromodomain helicase DNA binding protein 7
- CHEK2: CHK2 checkpoint homolog (S. pombe)
- CHM: choroideremia (Rab escort protein 1)
- CHN1: chimerin (chimaerin) 1
- CHRNA2: cholinergic receptor, nicotinic, alpha 2 (neuronal)
- CHRNA4: cholinergic receptor, nicotinic, alpha 4
- CHRNB2: cholinergic receptor, nicotinic, beta 2 (neuronal)
- CLCN1: chloride channel 1, skeletal muscle
- 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
- 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
- COL7A1: collagen, type VII, alpha 1
- 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
- COMP: cartilage oligomeric matrix protein
- COMT: catechol-O-methyltransferase
- CP: ceruloplasmin (ferroxidase)
- CPOX: coproporphyrinogen oxidase
- CPS1: carbamoyl-phosphate synthetase 1, mitochondrial
- CPT1A: carnitine palmitoyltransferase 1A (liver)
- CPT2: carnitine palmitoyltransferase 2
- CREBBP: CREB binding protein
- CRTAP: cartilage associated protein
- CSTB: cystatin B (stefin B)
- CTNND2: catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein)
- CTNS: cystinosis, nephropathic
- CTSA: cathepsin A
- CUL7: cullin 7
- CYP1B1: cytochrome P450, family 1, subfamily B, polypeptide 1
- CYP21A2: cytochrome P450, family 21, subfamily A, polypeptide 2
- CYP27A1: cytochrome P450, family 27, subfamily A, polypeptide 1
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