Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
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

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