Source: CLINGEN

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6229
Gene Symbol: RPS24
RPS24
CUI: C0265265
Disease: Aase syndrome
Aase syndrome
0.300 Biomarker CLINGEN Clinical and genomic heterogeneity of Diamond Blackfan anemia in the Russian Federation. 25946618

2015

Entrez Id: 6229
Gene Symbol: RPS24
RPS24
CUI: C0265265
Disease: Aase syndrome
Aase syndrome
0.300 Biomarker CLINGEN Novel deletion of RPL15 identified by array-comparative genomic hybridization in Diamond-Blackfan anemia. 23812780

2013

Entrez Id: 6229
Gene Symbol: RPS24
RPS24
CUI: C0265265
Disease: Aase syndrome
Aase syndrome
0.300 Biomarker CLINGEN A census of human soluble protein complexes. 22939629

2012

Entrez Id: 6229
Gene Symbol: RPS24
RPS24
CUI: C0265265
Disease: Aase syndrome
Aase syndrome
0.300 Biomarker CLINGEN Diamond-Blackfan anemia: genotype-phenotype correlations in Italian patients with RPL5 and RPL11 mutations. 19773262

2010

Entrez Id: 6229
Gene Symbol: RPS24
RPS24
CUI: C0265265
Disease: Aase syndrome
Aase syndrome
0.300 Biomarker CLINGEN Mutation of ribosomal protein RPS24 in Diamond-Blackfan anemia results in a ribosome biogenesis disorder. 18230666

2008

Entrez Id: 6229
Gene Symbol: RPS24
RPS24
CUI: C0265265
Disease: Aase syndrome
Aase syndrome
0.300 Biomarker CLINGEN Ribosomal protein S24 gene is mutated in Diamond-Blackfan anemia. 17186470

2006