Congenital dyserythropoietic anemia

Disease Term Disease ID Gene Symbol Classification References Source
Congenital dyserythropoietic anemia C0002876 CDAN1 Causal Pathogenic evidence from ClinVar - ClinVar
SEC23B Causal Pathogenic evidence from ClinVar 19561605 ClinVar
CDIN1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 9220189, 29885034 -
KLF1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 21055716, 29200155 -
LPIN2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 15994876, 23087183 -
Congenital dyserythropoietic anemia type I 98869 CDAN1 Causal Pathogenic evidence from ClinVar - ClinVar
CDIN1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
Congenital dyserythropoietic anemia, type I C0271933 CDAN1 Causal Pathogenic evidence from ClinVar 12434312, 16141353, 16754775, 18575862, 22407294, 29599085, 29901818 ClinVar
SEC23B Causal Pathogenic evidence from ClinVar 19561605 ClinVar
CDIN1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 23716552 -
KLF1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
Congenital dyserythropoietic anemia, type II C1306589 CDAN1 Causal Pathogenic evidence from ClinVar - ClinVar
SEC23B Causal Pathogenic evidence from ClinVar 19561605, 19621418, 20015893, 20381388, 20941788, 21252497, 21850656, 22208203, 23453696, 25044164, 27604308 ClinVar
CDIN1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
KLF1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
Congenital dyserythropoietic anemia type II 98873 SEC23B Causal Pathogenic evidence from ClinVar - ClinVar
Congenital dyserythropoietic anemia type III 98870 KIF23 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
Congenital dyserythropoietic anemia type IV 293825, C3150926 KLF1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 21055716, 25585695, 29200155 -