Diamond-blackfan anemia

Disease Term Disease ID Gene Symbol Classification References Source
ANEMIA, DIAMOND-BLACKFAN
C1260899MESH:D029503
ADA2 Unknown — Disgenet
DIPK1A Unknown — Disgenet
GATA1 Unknown — Disgenet
GH1 Unknown — Disgenet
HEATR3 Unknown — Disgenet
IQCG Unknown — Disgenet
RPL11 Unknown — Disgenet
RPL15 Unknown — Disgenet
RPL18 Unknown — Disgenet
RPL26 Unknown — Disgenet
RPL35 Unknown — Disgenet
RPL35A Unknown — Disgenet
RPL5 Unknown — Disgenet
RPL8 Unknown — Disgenet
RPS10 Unknown — Disgenet
RPS10-NUDT3 Unknown — Disgenet
RPS15A Unknown — Disgenet
RPS17 Unknown
17647292
CTD Disgenet
RPS19 Unknown — CTD Disgenet
RPS20 Unknown — Disgenet
RPS24 Unknown — Disgenet
RPS26 Unknown — Disgenet
RPS28 Unknown — Disgenet
RPS29 Unknown — Disgenet
RPS7 Unknown — Disgenet
TP53 Unknown — Disgenet
TSR2 Unknown — Disgenet
ZNF699 Unknown — Disgenet
ANEMIA, DIAMOND-BLACKFAN, 3
C1857719MESH:C536355
RPS24 Unknown — CTD Disgenet
DIAMOND-BLACKFAN ANEMIA
124MONDO:0015253
GATA1 Causal
22706301 24952648
GWAS catalog Orphanet
HEATR3 Causal
35213692
Orphanet
RPL11 Causal
20301769
GWAS catalog Orphanet
RPL35A Causal
20301769
Orphanet
RPL5 Causal
20301769
GWAS catalog Orphanet
RPS10 Causal
20301769
ClinGen GenCC Orphanet
RPS17 Causal
20301769
GWAS catalog Orphanet
RPS19 Causal
10590074 12586610 17726054 18641651 20301769 20395159 9988267
ClinGen GWAS catalog Orphanet
RPS20 Causal
32790018
ClinVar Orphanet
RPS24 Causal
20301769
ClinGen GenCC Orphanet
RPS26 Causal
20301769
CTD Orphanet
RPS7 Causal
20301769
Disgenet Orphanet
ADA2 Unknown
30503522
GWAS catalog Orphanet
RPL15 Unknown
20301769 23812780
GWAS catalog Orphanet
RPL18 Unknown
28280134
GWAS catalog Orphanet
RPL26 Unknown
20301769 22431104
GWAS catalog Orphanet
RPL27 Unknown
25424902
Orphanet
RPL31 Unknown
25042156 25424902
GWAS catalog Orphanet
RPL35 Unknown
28280134
GWAS catalog Orphanet
RPL8 Unknown
25424902 34961992
GWAS catalog Orphanet
RPL9 Unknown
20116044 29114930 31799629
GWAS catalog Orphanet