Shwachman syndrome

Disease Term Disease ID Gene Symbol Classification References Source
Shwachman syndrome C0272170 DNAJC21 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 28062395 -
EFL1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 28331068 -
SBDS Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 12496757, 14749921, 15284109, 15342903, 15701631, 15769891, 15860664, 17475909, 17916435, 21695142, 22510201, 22934832, 22935661, 23115272, 23351992, 23602541, 24388329, 24629175, 24898207, 25729736, 25844324, 26081292, 28297620, 29375851, 29753700 -
SRP54 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 28972538 -
TYW1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
SHWACHMAN-DIAMOND SYNDROME 2 C4693704 EFL1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 28331068, 29970384 -