Diamond-blackfan anemia

Disease Term Disease ID Gene Symbol Classification References Source
Diamond-Blackfan Anemia 7 C2675512 RPL11 Causal Pathogenic evidence from ClinVar 19061985, 19191325, 23812780 ClinVar
DIAMOND-BLACKFAN ANEMIA 12 C3809888 RPL15 Causal Pathogenic evidence from ClinVar 23812780, 29599205 ClinVar
DIAMOND-BLACKFAN ANEMIA 11 C3554042 RPL26 Causal Pathogenic evidence from ClinVar 22431104 ClinVar
DIAMOND-BLACKFAN ANEMIA 16 C4479424 RPL27 Causal Pathogenic evidence from ClinVar 25424902 ClinVar
Diamond-Blackfan Anemia 5 C2675859 RPL35A Causal Pathogenic evidence from ClinVar 18535205, 25946618 ClinVar
IQCG Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 18535205, 25946618 -
Diamond-Blackfan Anemia 1 C2676137 RPL5 Causal Pathogenic evidence from ClinVar - ClinVar
RPS19 Causal Pathogenic evidence from ClinVar 1746615, 9988267, 10590074, 11112378, 12586610, 12750732, 15384984, 17517689, 18412286 ClinVar
ADA2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 30503522 -
DIPK1A Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
EPO Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 28283061 -
Diamond-Blackfan Anemia 9 C2750081 RPS10 Causal Pathogenic evidence from ClinVar 20116044, 22510774, 22863883, 22939629, 23718193, 25946618 ClinVar
RPS10-NUDT3 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
Diamond-Blackfan Anemia 4 C2675860 RPS17 Causal Pathogenic evidence from ClinVar 19061985, 22045982, 23812780 ClinVar
Diamond-Blackfan Anemia 10 C2750080 RPS26 Causal Pathogenic evidence from ClinVar 20116044, 23812780, 24942156, 25946618, 26136524 ClinVar
DIAMOND-BLACKFAN ANEMIA 17 C4479428 RPS27 Causal Pathogenic evidence from ClinVar 25424902 ClinVar
DIAMOND-BLACKFAN ANEMIA 13 C4014641 RPS29 Causal Pathogenic evidence from ClinVar 24829207 ClinVar
Diamond-Blackfan Anemia 8 C2675511 RPS7 Causal Pathogenic evidence from ClinVar 19061985, 27882484 ClinVar