| Classic homocystinuria |
394 |
CBS
|
|
| Homocystinuria |
C0019880 |
CBS
|
9266356, 22267502, 11343305, 9864922, 20490928, 24211323, 18201569, 14635102, 22353391, 22612060, 8940271, 8353501, 20506325, 7611293, 29508359, 16205833, 17540596, 27243974, 16375773, 21520339, 9361025, 11230183, 7762555, 20455263, 23981774, 21517828, 23974653, 14722927, 25218699, 8755636, 10364517, 12124992, 16786517, 10338090, 28980096, 16307898 |
|
MTHFR
|
|
|
MTR
|
|
|
MTRR
|
15714522, 12555939 |
|
PRDX1
|
|
|
ABCD4
|
|
|
MMACHC
|
|
|
MMADHC
|
|
|
LMBRD1
|
|
| HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY |
C1856058 |
MTHFR
|
12673793, 25736335, 12733064, 8940272, 27604308, 20236116, 11181567, 7726158, 27743313, 10551815, 25856670, 24556013, 29391032, 26872964, 7920641, 25818041, 10679944, 26898294, 22887477, 17409006, 9781030, 20490923, 15048559, 24797679, 20356773, 27130656, 24997712 |
| Homocystinuria due to methylene tetrahydrofolate reductase deficiency |
395 |
MTHFR
|
|
| Homocystinuria, CblD Type, Variant 1 |
C1848553 |
MMADHC
|
|
| Homocystinuria, Pyridoxine-Responsive |
C3502110 |
CBS
|
|
