Health Topics
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Explore the normal functions of human genes and the health implications of genetic changes.
- C2: complement C2
- C3: complement C3
- C8A: complement C8 alpha chain
- C8B: complement C8 beta chain
- C9orf72: C9orf72-SMCR8 complex subunit
- C19orf12: chromosome 19 open reading frame 12
- CA5A: carbonic anhydrase 5A
- CA12: carbonic anhydrase 12
- CACNA1A: calcium voltage-gated channel subunit alpha1 A
- CACNA1S: calcium voltage-gated channel subunit alpha1 S
- CACNA1C: calcium voltage-gated channel subunit alpha1 C
- CACNA1F: calcium voltage-gated channel subunit alpha1 F
- CACNA1D: calcium voltage-gated channel subunit alpha1 D
- CALR: calreticulin
- CAPN3: calpain 3
- CARD9: caspase recruitment domain family member 9
- CARD11: caspase recruitment domain family member 11
- CARD14: caspase recruitment domain family member 14
- CASK: calcium/calmodulin dependent serine protein kinase
- CASQ2: calsequestrin 2
- CASR: calcium sensing receptor
- CAT: catalase
- CATSPER1: cation channel sperm associated 1
- CATSPER2: cation channel sperm associated 2
- CAV1: caveolin 1
- CAV3: caveolin 3
- CAVIN1: caveolae associated protein 1
- CBFB: core-binding factor subunit beta
- CBS: cystathionine beta-synthase
- CCBE1: collagen and calcium binding EGF domains 1
- CCM2: CCM2 scaffold protein
- CCN6: cellular communication network factor 6
- CCND2: cyclin D2
- CD40LG: CD40 ligand
- CDAN1: codanin 1
- CDC6: cell division cycle 6
- CDC73: cell division cycle 73
- CDH1: cadherin 1
- CDH23: cadherin related 23
- CDKL5: cyclin dependent kinase like 5
- CDKN1C: cyclin dependent kinase inhibitor 1C
- CDKN1B: cyclin dependent kinase inhibitor 1B
- CDKN2A: cyclin dependent kinase inhibitor 2A
- CDT1: chromatin licensing and DNA replication factor 1
- CEBPA: CCAAT enhancer binding protein alpha
- CEP57: centrosomal protein 57
- CEP290: centrosomal protein 290
- CFH: complement factor H
- CFHR5: complement factor H related 5
- CFI: complement factor I
- CFTR: CF transmembrane conductance regulator
- CHAT: choline O-acetyltransferase
- CHD2: chromodomain helicase DNA binding protein 2
- CHD3: chromodomain helicase DNA binding protein 3
- CHD7: chromodomain helicase DNA binding protein 7
- CHD8: chromodomain helicase DNA binding protein 8
- CHM: CHM Rab escort protein
- CHMP2B: charged multivesicular body protein 2B
- CHN1: chimerin 1
- CHRNA2: cholinergic receptor nicotinic alpha 2 subunit
- CHRNA4: cholinergic receptor nicotinic alpha 4 subunit
- CHRNB2: cholinergic receptor nicotinic beta 2 subunit
- CHRNE: cholinergic receptor nicotinic epsilon subunit
- CHRNG: cholinergic receptor nicotinic gamma subunit
- CHST3: carbohydrate sulfotransferase 3
- CIITA: class II major histocompatibility complex transactivator
- CISD2: CDGSH iron sulfur domain 2
- CLCF1: cardiotrophin like cytokine factor 1
- CLCN1: chloride voltage-gated channel 1
- CLCN2: chloride voltage-gated channel 2
- CLCN5: chloride voltage-gated channel 5
- CLCN7: chloride voltage-gated channel 7
- CLCNKA: chloride voltage-gated channel Ka
- CLCNKB: chloride voltage-gated channel Kb
- CLIP2: CAP-Gly domain containing linker protein 2
- CLN3: CLN3 lysosomal/endosomal transmembrane protein, battenin
- CLN5: CLN5 intracellular trafficking protein
- CLN6: CLN6 transmembrane ER protein
- CLN8: CLN8 transmembrane ER and ERGIC protein
- CLPB: ClpB family mitochondrial disaggregase
- CLPP: caseinolytic mitochondrial matrix peptidase proteolytic subunit
- CLRN1: clarin 1
- CNBP: CCHC-type zinc finger nucleic acid binding protein
- CNGA3: cyclic nucleotide gated channel subunit alpha 3
- CNGB3: cyclic nucleotide gated channel subunit beta 3
- COG4: component of oligomeric golgi complex 4
- COG5: component of oligomeric golgi complex 5
- COL1A2: collagen type I alpha 2 chain
- COL1A1: collagen type I alpha 1 chain
- COL2A1: collagen type II alpha 1 chain
- COL3A1: collagen type III alpha 1 chain
- COL4A5: collagen type IV alpha 5 chain
- COL4A3: collagen type IV alpha 3 chain
- COL4A1: collagen type IV alpha 1 chain
- COL4A4: collagen type IV alpha 4 chain
- COL5A1: collagen type V alpha 1 chain
- COL5A2: collagen type V alpha 2 chain
- COL6A1: collagen type VI alpha 1 chain
- COL6A3: collagen type VI alpha 3 chain
- COL6A2: collagen type VI alpha 2 chain
- COL7A1: collagen type VII alpha 1 chain
- COL8A2: collagen type VIII alpha 2 chain
- COL9A1: collagen type IX alpha 1 chain
- COL9A3: collagen type IX alpha 3 chain
- COL9A2: collagen type IX alpha 2 chain
- COL11A2: collagen type XI alpha 2 chain
- COL11A1: collagen type XI alpha 1 chain
- COL17A1: collagen type XVII alpha 1 chain
- COL18A1: collagen type XVIII alpha 1 chain
- COLEC10: collectin subfamily member 10
- COLEC11: collectin subfamily member 11
- COLQ: collagen like tail subunit of asymmetric acetylcholinesterase
- COMP: cartilage oligomeric matrix protein
- COMT: catechol-O-methyltransferase
- COQ2: coenzyme Q2, polyprenyltransferase
- COQ4: coenzyme Q4
- COQ6: coenzyme Q6, monooxygenase
- COQ8A: coenzyme Q8A
- COQ8B: coenzyme Q8B
- CP: ceruloplasmin
- CPOX: coproporphyrinogen oxidase
- CPS1: carbamoyl-phosphate synthase 1
- CPT1A: carnitine palmitoyltransferase 1A
- CPT2: carnitine palmitoyltransferase 2
- CRB1: crumbs cell polarity complex component 1
- CREBBP: CREB binding protein
- CRLF1: cytokine receptor like factor 1
- CRPPA: CDP-L-ribitol pyrophosphorylase A
- CRX: cone-rod homeobox
- CSF1R: colony stimulating factor 1 receptor
- CST3: cystatin C
- CSTB: cystatin B
- CTC1: CST telomere replication complex component 1
- CTDP1: CTD phosphatase subunit 1
- CTNNB1: catenin beta 1
- CTNND1: catenin delta 1
- CTNND2: catenin delta 2
- CTNS: cystinosin, lysosomal cystine transporter
- CTSA: cathepsin A
- CTSD: cathepsin D
- CUBN: cubilin
- CUL3: cullin 3
- CUL7: cullin 7
- CXCR4: C-X-C motif chemokine receptor 4
- CYB5R3: cytochrome b5 reductase 3
- CYBA: cytochrome b-245 alpha chain
- CYBB: cytochrome b-245 beta chain
- CYLD: CYLD lysine 63 deubiquitinase
- CYP1B1: cytochrome P450 family 1 subfamily B member 1
- CYP2C19: cytochrome P450 family 2 subfamily C member 19
- CYP2C9: cytochrome P450 family 2 subfamily C member 9
- CYP2R1: cytochrome P450 family 2 subfamily R member 1
- CYP4V2: cytochrome P450 family 4 subfamily V member 2
- CYP7B1: cytochrome P450 family 7 subfamily B member 1
- CYP11B1: cytochrome P450 family 11 subfamily B member 1
- CYP11B2: cytochrome P450 family 11 subfamily B member 2
- CYP17A1: cytochrome P450 family 17 subfamily A member 1
- CYP19A1: cytochrome P450 family 19 subfamily A member 1
- CYP21A2: cytochrome P450 family 21 subfamily A member 2
- CYP24A1: cytochrome P450 family 24 subfamily A member 1
- CYP27A1: cytochrome P450 family 27 subfamily A member 1
- CYP27B1: cytochrome P450 family 27 subfamily B member 1