AFF4, AF4/FMR2 family member 4, 27125

N. diseases: 62; N. variants: 12
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
CUI: C0028754
Disease: Obesity
Obesity
0.410 GeneticVariation disease BEFREE Using exome sequencing, we discovered missense mutations in AFF4, a core component of the SEC, in three unrelated probands with a new syndrome that phenotypically overlaps Cornelia de Lange syndrome (CdLS) that we have named CHOPS syndrome (C for cognitive impairment and coarse facies, H for heart defects, O for obesity, P for pulmonary involvement and S for short stature and skeletal dysplasia). 25730767 2015
CUI: C0028754
Disease: Obesity
Obesity
0.410 Biomarker disease CTD_human Using exome sequencing, we discovered missense mutations in AFF4, a core component of the SEC, in three unrelated probands with a new syndrome that phenotypically overlaps Cornelia de Lange syndrome (CdLS) that we have named CHOPS syndrome (C for cognitive impairment and coarse facies, H for heart defects, O for obesity, P for pulmonary involvement and S for short stature and skeletal dysplasia). 25730767 2015
CUI: C0028754
Disease: Obesity
Obesity
0.410 Biomarker disease HPO
CUI: C0018798
Disease: Congenital Heart Defects
Congenital Heart Defects
0.310 GeneticVariation group BEFREE Using exome sequencing, we discovered missense mutations in AFF4, a core component of the SEC, in three unrelated probands with a new syndrome that phenotypically overlaps Cornelia de Lange syndrome (CdLS) that we have named CHOPS syndrome (C for cognitive impairment and coarse facies, H for heart defects, O for obesity, P for pulmonary involvement and S for short stature and skeletal dysplasia). 25730767 2015
CUI: C0018798
Disease: Congenital Heart Defects
Congenital Heart Defects
0.310 Biomarker group CTD_human Using exome sequencing, we discovered missense mutations in AFF4, a core component of the SEC, in three unrelated probands with a new syndrome that phenotypically overlaps Cornelia de Lange syndrome (CdLS) that we have named CHOPS syndrome (C for cognitive impairment and coarse facies, H for heart defects, O for obesity, P for pulmonary involvement and S for short stature and skeletal dysplasia). 25730767 2015
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
0.300 Biomarker group CTD_human Germline gain-of-function mutations in AFF4 cause a developmental syndrome functionally linking the super elongation complex and cohesin. 25730767 2015
CUI: C0005941
Disease: Bone Diseases, Developmental
Bone Diseases, Developmental
0.300 Biomarker group CTD_human Germline gain-of-function mutations in AFF4 cause a developmental syndrome functionally linking the super elongation complex and cohesin. 25730767 2015
CUI: C0009241
Disease: Cognition Disorders
Cognition Disorders
0.300 Biomarker group CTD_human Germline gain-of-function mutations in AFF4 cause a developmental syndrome functionally linking the super elongation complex and cohesin. 25730767 2015
CUI: C0018273
Disease: Growth Disorders
Growth Disorders
0.300 Biomarker group CTD_human Germline gain-of-function mutations in AFF4 cause a developmental syndrome functionally linking the super elongation complex and cohesin. 25730767 2015
CUI: C0024115
Disease: Lung diseases
Lung diseases
0.300 Biomarker group CTD_human Germline gain-of-function mutations in AFF4 cause a developmental syndrome functionally linking the super elongation complex and cohesin. 25730767 2015
CUI: C0282631
Disease: Facies
Facies
0.300 Biomarker group CTD_human Germline gain-of-function mutations in AFF4 cause a developmental syndrome functionally linking the super elongation complex and cohesin. 25730767 2015
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate
0.100 GeneticVariation phenotype GWASCAT A catalog of genetic loci associated with kidney function from analyses of a million individuals. 31152163 2019
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.100 GeneticVariation disease GWASCAT Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia. 27903959 2017
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism
0.100 Biomarker disease HPO
CUI: C0013274
Disease: Patent ductus arteriosus
Patent ductus arteriosus
0.100 Biomarker disease HPO
CUI: C0013336
Disease: Dwarfism
Dwarfism
0.100 Biomarker disease HPO
CUI: C0015300
Disease: Exophthalmos
Exophthalmos
0.100 Biomarker disease HPO
CUI: C0017168
Disease: Gastroesophageal reflux disease
Gastroesophageal reflux disease
0.100 Biomarker disease HPO
CUI: C0018816
Disease: Heart Septal Defects
Heart Septal Defects
0.100 Biomarker group HPO