AFF4, AF4/FMR2 family member 4, 27125

N. diseases: 62; N. variants: 12
Disease: CHOPS SYNDROME ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4085597
Disease: CHOPS SYNDROME
CHOPS SYNDROME 		0.710 GeneticVariation disease UNIPROT These data support a common molecular pathogenesis for CHOPS syndrome and CdLS caused by disturbance of transcriptional elongation due to alterations in genome-wide binding of AFF4 and cohesin. 25730767 2015
CUI: C4085597
Disease: CHOPS SYNDROME
CHOPS SYNDROME 		0.710 GeneticVariation disease BEFREE These data support a common molecular pathogenesis for CHOPS syndrome and CdLS caused by disturbance of transcriptional elongation due to alterations in genome-wide binding of AFF4 and cohesin. 25730767 2015
CUI: C4085597
Disease: CHOPS SYNDROME
CHOPS SYNDROME 		0.710 CausalMutation disease CLINVAR These data support a common molecular pathogenesis for CHOPS syndrome and CdLS caused by disturbance of transcriptional elongation due to alterations in genome-wide binding of AFF4 and cohesin. 25730767 2015
CUI: C4085597
Disease: CHOPS SYNDROME
CHOPS SYNDROME 		0.710 GermlineCausalMutation disease ORPHANET These data support a common molecular pathogenesis for CHOPS syndrome and CdLS caused by disturbance of transcriptional elongation due to alterations in genome-wide binding of AFF4 and cohesin. 25730767 2015
CUI: C4085597
Disease: CHOPS SYNDROME
CHOPS SYNDROME 		0.710 GeneticVariation disease CLINVAR
CUI: C4085597
Disease: CHOPS SYNDROME
CHOPS SYNDROME 		0.710 Biomarker disease CTD_human