FBN2, fibrillin 2, 2201

N. diseases: 211; N. variants: 42
Disease: ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE IIA ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0220666
Disease: ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE IIA
ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE IIA 		0.200 Biomarker disease MGD Regulation of limb patterning by extracellular microfibrils. 11470817 2001
CUI: C0220666
Disease: ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE IIA
ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE IIA 		0.200 Biomarker disease MGD ENU mutagenesis reveals a novel phenotype of reduced limb strength in mice lacking fibrillin 2. 20161761 2010
CUI: C0220666
Disease: ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE IIA
ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE IIA 		0.200 Biomarker disease MGD Extracellular microfibrils control osteoblast-supported osteoclastogenesis by restricting TGF{beta} stimulation of RANKL production. 20729550 2010