| Gene | Description | Location | Gene Omim Number | Disease Omim Number |
| CACNA1S | CALCIUM CHANNEL, VOLTAGE-DEPENDENT, L TYPE, ALPHA-1S SUBUNIT; CACNA1S | 1q32.1 | 114208 | 114208 |
| CAPN3 | CALPAIN 3; CAPN3 | 15q15.1-q21.1 | 114240 | 114240 |
| CDKL5 | CYCLIN-DEPENDENT KINASE-LIKE 5; CDKL5 | Xp22 | 300203 | 300203 |
| CDKN2A | CYCLIN-DEPENDENT KINASE INHIBITOR 2A; CDKN2A | 9p21 | 600160 | 600160 |
| CFTR | CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; CFTR | 7q31.2 | 602421 | 602421 |
| CHEK2 | CHECKPOINT KINASE 2; CHEK2 | 22q12.1 | 604373 | 114480 |
| CHM | CHM GENE; CHM | Xq21.2 | 300390 | 300390 |
| CLN2 | TRIPEPTIDYL PEPTIDASE I; TPP1 | 11p15.5 | 607998 | 204500 |
| COL11A1 | COLLAGEN, TYPE XI, ALPHA-1; COL11A1 | 1p21 | 120280 | 120280 |
| COL1A2 | COLLAGEN, TYPE I, ALPHA-2; COL1A2 | 7q21.3 | 120160 | 120160 |
| COL2A1 | COLLAGEN, TYPE II, ALPHA-1; COL2A1 | 12q13.11-q13.2 | 120140 | 120140 |
| COL3A1 | COLLAGEN, TYPE III, ALPHA-1; COL3A1 | 2q31 | 120180 | 120180 |
| COL5A1 | COLLAGEN, TYPE V, ALPHA-1; COL5A1 | 9q34.2-q34.3 | 120215 | 120215 |
| COL6A1 | COLLAGEN, TYPE VI, ALPHA-1; COL6A1 | 21q22.3 | 120220 | 120220 |
| COL6A2 | COLLAGEN, TYPE VI, ALPHA-2; COL6A2 | 21q22.3 | 120240 | 120240 |
| COL6A3 | COLLAGEN, TYPE VI, ALPHA-3; COL6A3 | 2q37 | 120250 | 120250 |
| CPN1 | CARBOXYPEPTIDASE N, POLYPEPTIDE 1, 50-KD; CPN1 | 10q24.2 | 603103 | 603103 |
| CPS1 | CARBAMOYL PHOSPHATE SYNTHETASE I; CPS1 | 2q35 | 608307 | 608307 |
| CPT2 | CARNITINE PALMITOYLTRANSFERASE II; CPT2 | 1p32 | 600650 | 600650 |
| CRADD | CASP2 AND RIPK1 DOMAIN-CONTAINING ADAPTOR WITH DEATH DOMAIN; CRADD | 12q22 | 603454 | 603454 |
| CTH | CYSTATHIONINE GAMMA-LYASE; CTH | 1p31.1 | 607657 | 607657 |
| CTNS | CYSTINOSIN; CTNS | 17p13 | 606272 | 606272 |
| CYP21A2 | CYTOCHROME P450, FAMILY 21, SUBFAMILY A, POLYPEPTIDE 2; CYP21A2 | 6p21.33 | 613815 | 613815 |
| CYP2C19 | CYTOCHROME P450, SUBFAMILY IIC, POLYPEPTIDE 19; CYP2C19 | 10q23.33 | 124020 | 124020 |
| CYP2C9 | CYTOCHROME P450, SUBFAMILY IIC, POLYPEPTIDE 9; CYP2C9 | 10q24 | 601130 | 601130 |
| CYP2D6 | CYTOCHROME P450, SUBFAMILY IID, POLYPEPTIDE 6; CYP2D6 | 22q13.1 | 124030 | 124030 |