PRF1, perforin 1, 5551

N. diseases: 163; N. variants: 31
Disease: Multiple congenital anomalies ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation group CLINVAR Hemophagocytic Lymphohistiocytosis: A Series of Five Clinical Cases in Adult Patients at a Single Institution with a Review of the Literature. 26605207 2015
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation group CLINVAR Hemophagocytic lymphohistiocytosis: an update on diagnosis and pathogenesis. 23690113 2013
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation group CLINVAR Recurrent subacute post-viral onset of ataxia associated with a PRF1 mutation. 23443029 2013
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation group CLINVAR Familial haemophagocytic lymphohistiocytosis: advances in the genetic basis, diagnosis and management. 21303357 2011
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation group CLINVAR Characterization of PRF1, STX11 and UNC13D genotype-phenotype correlations in familial hemophagocytic lymphohistiocytosis. 18710388 2008
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation group CLINVAR Late-onset cases of familial hemophagocytic lymphohistiocytosis with missense perforin gene mutations. 17266056 2007
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation group CLINVAR HLH-2004: Diagnostic and therapeutic guidelines for hemophagocytic lymphohistiocytosis. 16937360 2007
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation group CLINVAR A functional analysis of the putative polymorphisms A91V and N252S and 22 missense perforin mutations associated with familial hemophagocytic lymphohistiocytosis. 15755897 2005