KITLG, KIT ligand, 4254

N. diseases: 249; N. variants: 23
Disease: Anemia, Diamond-Blackfan ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1260899
Disease: Anemia, Diamond-Blackfan
Anemia, Diamond-Blackfan 		0.030 AlteredExpression disease BEFREE In contrast, marrow fibroblasts from a Diamond-Blackfan anemia patient in untreated hematologic remission constitutively expressed high levels of SCF mRNA (21 +/- 4 copies/cell) and soluble protein (0.40 ng/mL per 10(6) cells at 24 hours). 7544739 1995
CUI: C1260899
Disease: Anemia, Diamond-Blackfan
Anemia, Diamond-Blackfan 		0.030 AlteredExpression disease BEFREE M-07e cells detected active soluble kit-ligand from normal bone marrow fibroblasts as well as from DBA BMEF which produce constitutively significant amounts of SCF. 7691319 1993
CUI: C1260899
Disease: Anemia, Diamond-Blackfan
Anemia, Diamond-Blackfan 		0.030 Biomarker disease BEFREE These results demonstrate that this group of DBA patients responds to SF and produces SF mRNA normally, indicating that SF itself is not involved in DBA pathophysiology. 1282827 1992