Disease Term Disease ID Gene Symbol Classification References Source
SPHEROCYTOSIS, TYPE 1 (disorder) C2674218 ANK1 Causal Pathogenic evidence from ClinVar 8640229, 9590147, 11102985, 12899723, 17327413 ClinVar
SPHEROCYTOSIS, TYPE 3 (disorder) C2678338 SPTA1 Causal Pathogenic evidence from ClinVar 1679439, 8941647, 27667160 ClinVar
Spherocytosis, Type 5 C2675192 EPB42 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 1558976, 7772513, 7819064, 8547071, 8547605, 10406914 -
Spherocytosis, Type 4 C2675212 SLC4A1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 1378323, 1722314, 7530501, 8547122, 8640229, 8943874, 9012689, 9207478, 9233560, 9600966, 9973643, 10580570, 10745622, 10942416, 11380459, 15813913, 16227998 -
SPHEROCYTOSIS, HEREDITARY, 2 C2674219 SPTB Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 7883966, 8102379, 8226774, 8844207, 9714702, 11703334, 19538529, 27906107 -