×
Entrez Id:
51816
Gene Symbol:
ADA2
ADA2
Aase Smith syndrome 2
0.300
GermlineCausalMutation
ORPHANET
The Genetic Landscape of Diamond-Blackfan Anemia.
30503522
2018
×
Entrez Id:
6210
Gene Symbol:
RPS15A
RPS15A
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
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
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
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
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
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
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
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
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
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
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
Aase Smith syndrome 2
0.300
GermlineCausalMutation
ORPHANET
Exome sequencing identifies GATA1 mutations resulting in Diamond-Blackfan anemia.
22706301
2012