Source: ORPHANET

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2623
Gene Symbol: GATA1
GATA1
CUI: C1260899
Disease: Anemia, Diamond-Blackfan
Anemia, Diamond-Blackfan
0.700 GermlineCausalMutation ORPHANET Moreover, the defective hematopoiesis observed in patients with DBA associated with ribosomal protein haploinsufficiency could be partially overcome by increasing GATA1 protein levels. 24952648

2014

Entrez Id: 2623
Gene Symbol: GATA1
GATA1
CUI: C1260899
Disease: Anemia, Diamond-Blackfan
Anemia, Diamond-Blackfan
0.700 GermlineCausalMutation ORPHANET We performed exome sequencing on two siblings who had no known pathogenic mutations for DBA and identified a mutation in the gene encoding the hematopoietic transcription factor GATA1. 22706301

2012

Entrez Id: 51816
Gene Symbol: ADA2
ADA2
CUI: C1260899
Disease: Anemia, Diamond-Blackfan
Anemia, Diamond-Blackfan
0.610 GermlineCausalMutation ORPHANET We further identified rare mutations in seven previously unreported RP genes that may cause DBA, as well as several distinct disorders that appear to phenocopy DBA, including nine individuals with biallelic CECR1 mutations that result in deficiency of ADA2. 30503522

2018

Entrez Id: 6232
Gene Symbol: RPS27
RPS27
CUI: C1260899
Disease: Anemia, Diamond-Blackfan
Anemia, Diamond-Blackfan
0.510 GeneticVariation ORPHANET Here, we identified a de novo splicing error mutation in RPL27 and frameshift deletion in RPS27 in sporadic patients with Diamond-Blackfan anaemia. 25424902

2015

Entrez Id: 6155
Gene Symbol: RPL27
RPL27
CUI: C1260899
Disease: Anemia, Diamond-Blackfan
Anemia, Diamond-Blackfan
0.510 GeneticVariation ORPHANET Here, we identified a de novo splicing error mutation in RPL27 and frameshift deletion in RPS27 in sporadic patients with Diamond-Blackfan anaemia. 25424902

2015

Entrez Id: 6235
Gene Symbol: RPS29
RPS29
CUI: C1260899
Disease: Anemia, Diamond-Blackfan
Anemia, Diamond-Blackfan
0.510 GermlineCausalMutation ORPHANET We demonstrated that both RPS29 mutations failed to rescue the defective erythropoiesis in the rps29(-/-) mutant zebra fish DBA model. 24829207

2014

Entrez Id: 6138
Gene Symbol: RPL15
RPL15
CUI: C1260899
Disease: Anemia, Diamond-Blackfan
Anemia, Diamond-Blackfan
0.510 GermlineCausalMutation ORPHANET These data identify RPL15 as a new gene involved in DBA and further support the presence of large deletions in RP genes in DBA patients. 23812780

2013

Entrez Id: 6154
Gene Symbol: RPL26
RPL26
CUI: C1260899
Disease: Anemia, Diamond-Blackfan
Anemia, Diamond-Blackfan
0.510 GermlineCausalMutation ORPHANET Together with RPL5, RPL11, and RPS7, RPL26 is the fourth RP regulating p53 activity that is linked to DBA. 22431104

2012

Entrez Id: 6141
Gene Symbol: RPL18
RPL18
CUI: C1260899
Disease: Anemia, Diamond-Blackfan
Anemia, Diamond-Blackfan
0.500 GermlineCausalMutation ORPHANET Novel and known ribosomal causes of Diamond-Blackfan anaemia identified through comprehensive genomic characterisation. 28280134

2017

Entrez Id: 11224
Gene Symbol: RPL35
RPL35
CUI: C1260899
Disease: Anemia, Diamond-Blackfan
Anemia, Diamond-Blackfan
0.500 GermlineCausalMutation ORPHANET Novel and known ribosomal causes of Diamond-Blackfan anaemia identified through comprehensive genomic characterisation. 28280134

2017

Entrez Id: 90121
Gene Symbol: TSR2
TSR2
CUI: C1260899
Disease: Anemia, Diamond-Blackfan
Anemia, Diamond-Blackfan
0.500 GermlineCausalMutation ORPHANET Diamond-Blackfan anemia with mandibulofacial dystostosis is heterogeneous, including the novel DBA genes TSR2 and RPS28. 24942156

2014

Entrez Id: 6234
Gene Symbol: RPS28
RPS28
CUI: C1260899
Disease: Anemia, Diamond-Blackfan
Anemia, Diamond-Blackfan
0.500 GermlineCausalMutation ORPHANET Diamond-Blackfan anemia with mandibulofacial dystostosis is heterogeneous, including the novel DBA genes TSR2 and RPS28. 24942156

2014

Entrez Id: 6210
Gene Symbol: RPS15A
RPS15A
CUI: C1260899
Disease: Anemia, Diamond-Blackfan
Anemia, Diamond-Blackfan
0.300 GermlineCausalMutation ORPHANET Exome sequencing identified RPS15A as a novel causative gene for Diamond-Blackfan anemia. 27909223

2017