| Disorder | Symbols | OMIM | LocLk | Location | CDS of RefSeq
|
Genome Browser Database
| Creutzfeldt-Jakob disease, 123400 (3) | PRNP
| 176640 | * |
20pter-p12 |
NM_000311 |
| Crigler-Najjar syndrome, type I, 218800 (3) | UGT1A, UGT1, UGT1A1, GNT1 | 191740 | * |
Chr.2 |
AF056188 |
| Crouzon syndrome with acanthosis nigricans (3) | FGFR3, ACH | 134934 | * |
4p16.3 |
NM_000142 |
| Crouzon syndrome, 123500 (3) | FGFR2, BEK, CFD1, JWS | 176943 | * |
10q26 |
NM_000141 |
| Cryptorchidism (2) (?) | GTD | 306190 | * |
Xp21 |
NM_000475 |
| Currarino syndrome, 176450 (3) | HLXB9, HOXHB9, SCRA1 | 142994 | * |
7q36 |
NM_005515 |
| Cutis laxa, 123700 (3) | ELN | 130160 | * |
7q11.2 |
NM_000501 |
| Cutis laxa, marfanoid neonatal type (1) (?) | LAMB1 | 150240 | * |
7q31.1-q31.3 |
NM_002291 |
| Cutis laxa, neonatal (3) | ATP7A, MNK, MK, OHS | 300011 | * |
Xq12-q13 |
NM_000052 |
| Cutis laxa, recessive, type I, 219100 (1) | LOX | 153455 | * |
5q23.3-q31.2 |
NM_002317 |
| Cyclic hematopoiesis, 162800 (3) | ELA2 | 130130 | * |
19p13.3 |
NM_001972 |
| Cyclic ichthyosis with epidermolytic hyperkeratosis (3) | KRT1 | 139350 | * |
12q13 |
NM_006121 |
| Cylindromatosis, familial, 132700 (3) | CYLD1, CDMT, EAC | 605018 | * |
16q12-q13 |
AJ250014 |
| Cystic fibrosis, 219700 (3) | CFTR, ABCC7, CF, MRP7 | 602421 | * |
7q31.2 |
NM_000492 |
| Cystinosis, nephropathic (3) | CTNS | 219800 | * |
17p13 |
NM_004937 |
| Cystinuria, 220100 (3) | SLC3A1, ATR1, D2H, NBAT | 104614 | * |
2p16.3 |
NM_000341 |
| Cystinuria, type II (3) | SLC7A9, CSNU3 | 604144 | * |
19q13.1 |
NM_014270 |
| D-bifunctional protein deficiency (3) | HSD17B4 | 601860 | * |
5q2 |
NM_000414 |
| DECR deficiency (2) (?) | DECR1 | 222745 | * |
8q21.3 |
NM_001359 |