Cystinuria

Disease Term Disease ID Gene Symbol Classification References Source
CYSTINURIA
C0010691220100HP:0003131MESH:D003555MONDO:0009067
CENPF Causal — Disgenet
SLC3A1 Causal — CTD ClinGen ClinVar Disgenet GenCC HPO
SLC7A9 Causal — CTD ClinGen ClinVar Disgenet GenCC HPO
PREPL Unknown — Disgenet
CYSTINURIA TYPE A
93612MONDO:0019745
SLC3A1 Unknown
21255007
CTD Orphanet
CYSTINURIA TYPE B
93613MONDO:0019746
SLC7A9 Unknown
21255007
GWAS catalog Orphanet
CYSTINURIA, TYPE A
C1857388
SLC3A1 Unknown — Disgenet
CYSTINURIA, TYPE B
C1857389
SLC7A9 Unknown — Disgenet