Cystinuria

Disease Term Disease ID Gene Symbol Classification References Source
Cystinuria C0010691 SLC3A1 Causal Pathogenic evidence from ClinVar 7539209, 7573036, 7575432, 8054986, 8486766, 8792820, 9083097, 9186880, 9648062, 9768685, 10738006, 11129328, 11260385, 11748844, 12234283, 12923163, 14991253, 15635077, 15691362, 16138908, 16225397, 16374432, 16609684, 17010017, 17880288, 18332091, 18704508, 18947684, 19782624, 20517292, 21255007, 21677404, 22493502, 23532419, 25109415, 25296721, 25964309, 26537754, 28049243, 28646536, 28717662 ClinVar
SLC7A9 Causal Pathogenic evidence from ClinVar 10471498, 11157794, 12234283, 12234930, 12371955, 12820697, 12915471, 15635077, 15670723, 16138908, 16609684, 17539912, 18332091, 18752446, 19782624, 21255007, 22480232, 23532419, 25109415, 25296721, 25613900, 25964309, 26123750, 28717662, 28812535 ClinVar
CAMKMT Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
PPM1B Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
PREPL Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 7573036, 15635077, 20517292, 22493502, 26537754, 28717662 -
Cystinuria type A 93612 SLC3A1 Causal Pathogenic evidence from ClinVar - ClinVar
Cystinuria, Type A C1857388 SLC3A1 Causal Pathogenic evidence from ClinVar 21255007 ClinVar
Cystinuria type B 93613 SLC7A9 Causal Pathogenic evidence from ClinVar - ClinVar
Cystinuria, Type B C1857389 SLC7A9 Causal Pathogenic evidence from ClinVar 21255007 ClinVar