Source: ORPHANET

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 51816
Gene Symbol: ADA2
ADA2
CUI: C2931850
Disease: Aase Smith syndrome 2
Aase Smith syndrome 2
0.300 GermlineCausalMutation ORPHANET The Genetic Landscape of Diamond-Blackfan Anemia. 30503522

2018

Entrez Id: 6210
Gene Symbol: RPS15A
RPS15A
CUI: C2931850
Disease: Aase Smith syndrome 2
Aase Smith syndrome 2
0.300 GermlineCausalMutation ORPHANET Exome sequencing identified RPS15A as a novel causative gene for Diamond-Blackfan anemia. 27909223

2017

Entrez Id: 11224
Gene Symbol: RPL35
RPL35
CUI: C2931850
Disease: Aase Smith syndrome 2
Aase Smith syndrome 2
0.300 GermlineCausalMutation ORPHANET Novel and known ribosomal causes of Diamond-Blackfan anaemia identified through comprehensive genomic characterisation. 28280134

2017

Entrez Id: 6141
Gene Symbol: RPL18
RPL18
CUI: C2931850
Disease: Aase Smith syndrome 2
Aase Smith syndrome 2
0.300 GermlineCausalMutation ORPHANET Novel and known ribosomal causes of Diamond-Blackfan anaemia identified through comprehensive genomic characterisation. 28280134

2017

Entrez Id: 6155
Gene Symbol: RPL27
RPL27
CUI: C2931850
Disease: Aase Smith syndrome 2
Aase Smith syndrome 2
0.300 GeneticVariation ORPHANET Loss of function mutations in RPL27 and RPS27 identified by whole-exome sequencing in Diamond-Blackfan anaemia. 25424902

2015

Entrez Id: 6232
Gene Symbol: RPS27
RPS27
CUI: C2931850
Disease: Aase Smith syndrome 2
Aase Smith syndrome 2
0.300 GeneticVariation ORPHANET Loss of function mutations in RPL27 and RPS27 identified by whole-exome sequencing in Diamond-Blackfan anaemia. 25424902

2015

Entrez Id: 6235
Gene Symbol: RPS29
RPS29
CUI: C2931850
Disease: Aase Smith syndrome 2
Aase Smith syndrome 2
0.300 GermlineCausalMutation ORPHANET Whole-exome sequencing and functional studies identify RPS29 as a novel gene mutated in multicase Diamond-Blackfan anemia families. 24829207

2014

Entrez Id: 90121
Gene Symbol: TSR2
TSR2
CUI: C2931850
Disease: Aase Smith syndrome 2
Aase Smith syndrome 2
0.300 GermlineCausalMutation ORPHANET Diamond-Blackfan anemia with mandibulofacial dystostosis is heterogeneous, including the novel DBA genes TSR2 and RPS28. 24942156

2014

Entrez Id: 2623
Gene Symbol: GATA1
GATA1
CUI: C2931850
Disease: Aase Smith syndrome 2
Aase Smith syndrome 2
0.300 GermlineCausalMutation ORPHANET Altered translation of GATA1 in Diamond-Blackfan anemia. 24952648

2014

Entrez Id: 6234
Gene Symbol: RPS28
RPS28
CUI: C2931850
Disease: Aase Smith syndrome 2
Aase Smith syndrome 2
0.300 GermlineCausalMutation ORPHANET Diamond-Blackfan anemia with mandibulofacial dystostosis is heterogeneous, including the novel DBA genes TSR2 and RPS28. 24942156

2014

Entrez Id: 6138
Gene Symbol: RPL15
RPL15
CUI: C2931850
Disease: Aase Smith syndrome 2
Aase Smith syndrome 2
0.300 GermlineCausalMutation ORPHANET Novel deletion of RPL15 identified by array-comparative genomic hybridization in Diamond-Blackfan anemia. 23812780

2013

Entrez Id: 6154
Gene Symbol: RPL26
RPL26
CUI: C2931850
Disease: Aase Smith syndrome 2
Aase Smith syndrome 2
0.300 GermlineCausalMutation ORPHANET Frameshift mutation in p53 regulator RPL26 is associated with multiple physical abnormalities and a specific pre-ribosomal RNA processing defect in diamond-blackfan anemia. 22431104

2012

Entrez Id: 2623
Gene Symbol: GATA1
GATA1
CUI: C2931850
Disease: Aase Smith syndrome 2
Aase Smith syndrome 2
0.300 GermlineCausalMutation ORPHANET Exome sequencing identifies GATA1 mutations resulting in Diamond-Blackfan anemia. 22706301

2012