Disease Term Disease ID Gene Symbol Classification References Source
Cystinosis C4316899 CTNS Causal Pathogenic evidence from ClinVar 9537412, 9792862, 10556299, 10571941, 10625078, 11505338, 11562417, 11708862, 12204010, 12442267, 12644911, 15128704, 15879904, 18752449, 19580442, 19863563, 21305353, 21786142, 22232659, 22528245, 22664570, 24464559, 26266097, 26489029, 27533158, 27625850 ClinVar
CYSTINOSIS, ATYPICAL NEPHROPATHIC (disorder) C2749685 CTNS Causal Pathogenic evidence from ClinVar 219750 ClinVar
Cystinosis, benign, nonnephropathic C2931013 CTNS Causal Pathogenic evidence from ClinVar 9537412, 9792862, 10444339, 10482956, 10556299, 10625078, 11505338, 11689434, 11855931, 12204010, 15128704, 18178779, 18752449, 19852576, 19863563, 25326109, 26266097, 27102039, 27604308, 27858370, 28276207, 28649545 ClinVar