Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
---|---|---|---|---|---|---|---|---|---|---|---|
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0.090 | AlteredExpression | disease | BEFREE | HIRA homologs are expressed in a regulated fashion during mouse and chicken embryogenesis, and the human gene is a major candidate for the DiGeorge syndrome and related developmental disorders caused by a reduction to single dose of a fragment of chromosome 22q. | 9710638 | 1998 | ||||
|
0.090 | Biomarker | disease | BEFREE | HIRA, a DiGeorge syndrome candidate gene, is required for cardiac outflow tract septation. | 9933243 | 1999 | ||||
|
0.090 | Biomarker | disease | BEFREE | FISH analysis revealed an unexpected deletion involving the TUPLE1 gene in the DiGeorge/Velocardiofacial syndrome region in 22q11.2. | 17099929 | 2006 | ||||
|
0.090 | Biomarker | disease | BEFREE | Isolation and characterization of a novel transcript embedded within HIRA, a gene deleted in DiGeorge syndrome. | 10381330 | 1999 | ||||
|
0.090 | AlteredExpression | disease | BEFREE | Since many of the structures affected in DiGeorge syndrome derive from these Hira expressing cell populations we propose that haploinsufficiency of HIRA contributes to at least some of the features of the DiGeorge phenotype. | 9063745 | 1997 | ||||
|
0.090 | Biomarker | disease | BEFREE | Structural Organization of the WD repeat protein-encoding gene HIRA in the DiGeorge syndrome critical region of human chromosome 22. | 8681138 | 1996 | ||||
|
0.090 | Biomarker | disease | BEFREE | The human HIRA gene was identified as a putative transcriptional regulator mapping within the DiGeorge syndrome critical region at 22q11. | 9712723 | 1998 | ||||
|
0.090 | Biomarker | disease | BEFREE | We analyzed 61 patients with 22q11.2 microdeletion syndrome diagnosed based on the verification of microdeletion by fluorescent in situ hybridization (FISH) using a probe of the DiGeorge syndrome critical region (TUPLE1) at 22q11.2 and a control probe, ARSA at 22q13. | 15995343 | 2005 | ||||
|
0.090 | Biomarker | disease | BEFREE | We propose that haploinsufficiency for TUPLE1 is at least partly responsible for DiGeorge syndrome and related abnormalities. | 8111380 | 1993 |