Property Summary

NCBI Gene PubMed Count 8
PubMed Score 120.02
PubTator Score 2.00

Knowledge Summary


No data available


  Disease (2)

Disease Target Count P-value
osteosarcoma 7933 2.1e-05
tuberculosis 1563 1.7e-02
mucosa-associated lymphoid tissue lymphoma 480 2.1e-02
Disease Target Count Z-score Confidence
Hemolytic anemia 70 0.0 2.0


  Differential Expression (3)

Disease log2 FC p
osteosarcoma -5.459 2.1e-05
tuberculosis 1.700 1.7e-02
mucosa-associated lymphoid tissue lympho... 2.323 2.1e-02

Gene RIF (2)

19199228 HbM Saskatoon is normally a harmless variant. However, in conjunction with severe pneumonia, we assume that it did not only affect clinical evaluation, but also exacerbated pneumonia by reducing the oxygen binding capacity.
15855277 results suggest the human genome encodes a previously unrecognized globin member of the avian alpha-D family that is transcribed in a highly regulated pattern in erythroid cells

AA Sequence


Text Mined References (10)

PMID Year Title
23376485 2013 Proteomic analysis of podocyte exosome-enriched fraction from normal human urine.
19199228 2009 Persistent cyanosis in a 4 month old infant with severe pneumonia and haemoglobin M.
16728641 2006 A regulatory SNP causes a human genetic disease by creating a new transcriptional promoter.
16024261 2006 The mammalian alphaD-globin gene lineage and a new model for the molecular evolution of alpha-globin gene clusters at the stem of the mammalian radiation.
15855277 2005 A newly discovered human alpha-globin gene.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
3952001 1986 A previously undetected pseudogene in the human alpha globin gene cluster.
2825132 1987 Unusual features of CpG-rich (HTF) islands in the human alpha globin complex: association with non-functional pseudogenes and presence within the 3' portion of the zeta gene.
2649166 1989 A review of the molecular genetics of the human alpha-globin gene cluster.