Homocystinuria

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