FGL1, fibrinogen like 1, 2267

N. diseases: 53; N. variants: 2
Disease: CONSTRICTING BANDS, CONGENITAL ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0220724
Disease: CONSTRICTING BANDS, CONGENITAL
CONSTRICTING BANDS, CONGENITAL 		0.020 Biomarker disease BEFREE The evaluation of different disease-causing mechanisms will be essential for establishing new and more specific therapeutic strategies for HPS/aBS patients. 12911542 2003
CUI: C0220724
Disease: CONSTRICTING BANDS, CONGENITAL
CONSTRICTING BANDS, CONGENITAL 		0.020 Biomarker disease BEFREE We investigated 10 HPS/aBS patients for mutations in the ROMK gene by single-strand conformation polymorphism analysis (SSCA) and direct sequencing. 11318951 2001