Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs2293157
rs2293157
Entrez Id: 6776
Gene Symbol: STAT5A
STAT5A
CUI: C0023418
Disease:
leukemia
0.010 GeneticVariation BEFREE Linkage disequilibrium existed between rs11079041 and rs2293157 in both leukemia and control groups (r(2) = 0.7). 22126101 2012
dbSNP: rs1218653273
rs1218653273
Entrez Id: 6776
Gene Symbol: STAT5A
STAT5A
CUI: C0015544
Disease:
Failure to Thrive
0.010 GeneticVariation BEFREE Finally, we clearly demonstrate that GH-R77C is not invariably associated with short stature, but that great care needs to be taken in ascribing growth failure to various heterozygous mutations affecting the GH-IGF axis and that careful functional studies are mandatory. 17785701 2007
dbSNP: rs1218653273
rs1218653273
Entrez Id: 6776
Gene Symbol: STAT5A
STAT5A
CUI: C0013336
Disease:
Dwarfism
0.010 GeneticVariation BEFREE Finally, we clearly demonstrate that GH-R77C is not invariably associated with short stature, but that great care needs to be taken in ascribing growth failure to various heterozygous mutations affecting the GH-IGF axis and that careful functional studies are mandatory. 17785701 2007
dbSNP: rs1218653273
rs1218653273
Entrez Id: 6776
Gene Symbol: STAT5A
STAT5A
CUI: C0878787
Disease:
Growth failure
0.010 GeneticVariation BEFREE Finally, we clearly demonstrate that GH-R77C is not invariably associated with short stature, but that great care needs to be taken in ascribing growth failure to various heterozygous mutations affecting the GH-IGF axis and that careful functional studies are mandatory. 17785701 2007
dbSNP: rs1416364034
rs1416364034
Entrez Id: 6776
Gene Symbol: STAT5A
STAT5A
CUI: C0023418
Disease:
leukemia
0.010 GeneticVariation BEFREE The resistance to the tyrosine kinase inhibitor imatinib in BCR/ABL-positive leukemias is mostly associated with mutations in the kinase domain of BCR/ABL, which include the most prevalent mutations E255K and T315I. 15194504 2004