SPTAN1, spectrin alpha, non-erythrocytic 1, 6709

N. diseases: 82; N. variants: 20
Disease: Fanconi Anemia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		0.040 Biomarker disease BEFREE Such investigations should help unravel the complexities of αII-spectrin's interactions with other nuclear proteins and enhance our understanding of the pathogenesis of disorders, such as Fanconi anemia , in which there is a deficiency in αII-spectrin. 29557213 2018
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		0.040 Biomarker disease LHGDN The SH3 domain of alphaII spectrin is a target for the Fanconi anemia protein, FANCG. 19102630 2009
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		0.040 Biomarker disease LHGDN alphaII-Spectrin interacts with five groups of functionally important proteins in the nucleus. 16889989 2006
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		0.040 AlteredExpression disease LHGDN Fanconi anemia cell lines deficient in alphaII spectrin express normal levels of alphaII spectrin mRNA. 12893251 2003