DPF2, double PHD fingers 2, 5977

N. diseases: 99; N. variants: 6
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4747954
Disease: COFFIN-SIRIS SYNDROME 7
COFFIN-SIRIS SYNDROME 7 		0.610 GeneticVariation disease BEFREE A new missense mutation in DPF2 gene related to Coffin Siris syndrome 7: Description of a mild phenotype expanding DPF2-related clinical spectrum and differential diagnosis among similar syndromes epigenetically determined. 31706665 2020
CUI: C4747954
Disease: COFFIN-SIRIS SYNDROME 7
COFFIN-SIRIS SYNDROME 7 		0.610 Biomarker disease GENOMICS_ENGLAND Mutations in the BAF-Complex Subunit DPF2 Are Associated with Coffin-Siris Syndrome. 29429572 2018
CUI: C4747954
Disease: COFFIN-SIRIS SYNDROME 7
COFFIN-SIRIS SYNDROME 7 		0.610 GeneticVariation disease UNIPROT Mutations in the BAF-Complex Subunit DPF2 Are Associated with Coffin-Siris Syndrome. 29429572 2018
CUI: C4747954
Disease: COFFIN-SIRIS SYNDROME 7
COFFIN-SIRIS SYNDROME 7 		0.610 CausalMutation disease CLINVAR
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.400 Biomarker group GENOMICS_ENGLAND Mutations in the BAF-Complex Subunit DPF2 Are Associated with Coffin-Siris Syndrome. 29429572 2018
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.400 Biomarker group HPO
CUI: C0265338
Disease: Coffin-Siris syndrome
Coffin-Siris syndrome 		0.330 GeneticVariation disease BEFREE We add the clinical description of another patient with a novel mutation in DPF2, with a mild phenotype, thus trying to contribute to enlarge CSS phenotypic variability. 31706665 2020
CUI: C0265338
Disease: Coffin-Siris syndrome
Coffin-Siris syndrome 		0.330 GeneticVariation disease BEFREE This individual further broadens the phenotypic features of DPF2-related CSS, as well as CSS more generally. 31207137 2019
CUI: C0265338
Disease: Coffin-Siris syndrome
Coffin-Siris syndrome 		0.330 GermlineCausalMutation disease ORPHANET Altogether, we provide compelling evidence that de novo variants in DPF2 cause Coffin-Siris syndrome and propose a dominant-negative mechanism of pathogenicity. 29429572 2018
CUI: C0265338
Disease: Coffin-Siris syndrome
Coffin-Siris syndrome 		0.330 GeneticVariation disease BEFREE Altogether, we provide compelling evidence that de novo variants in DPF2 cause Coffin-Siris syndrome and propose a dominant-negative mechanism of pathogenicity. 29429572 2018
CUI: C0202239
Disease: Uric acid measurement (procedure)
Uric acid measurement (procedure) 		0.100 GeneticVariation phenotype GWASCAT Target genes, variants, tissues and transcriptional pathways influencing human serum urate levels. 31578528 2019
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.100 CausalMutation phenotype CLINVAR Mutations in the BAF-Complex Subunit DPF2 Are Associated with Coffin-Siris Syndrome. 29429572 2018
CUI: C3281201
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 12
MENTAL RETARDATION, AUTOSOMAL DOMINANT 12 		0.100 CausalMutation disease CLINVAR Mutations in the BAF-Complex Subunit DPF2 Are Associated with Coffin-Siris Syndrome. 29429572 2018
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		0.100 Biomarker disease HPO
CUI: C0008925
Disease: Cleft Palate
Cleft Palate 		0.100 Biomarker disease HPO
CUI: C0009806
Disease: Constipation
Constipation 		0.100 Biomarker phenotype HPO
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism 		0.100 Biomarker disease HPO
CUI: C0010964
Disease: Dandy-Walker Syndrome
Dandy-Walker Syndrome 		0.100 Biomarker disease HPO
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.100 Biomarker disease HPO
CUI: C0015934
Disease: Fetal Growth Retardation
Fetal Growth Retardation 		0.100 Biomarker phenotype HPO
CUI: C0018816
Disease: Heart Septal Defects
Heart Septal Defects 		0.100 Biomarker group HPO
CUI: C0020295
Disease: Hydronephrosis
Hydronephrosis 		0.100 Biomarker disease HPO
CUI: C0020490
Disease: Hyperopia
Hyperopia 		0.100 Biomarker disease HPO
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		0.100 Biomarker phenotype HPO
CUI: C0022821
Disease: Kyphosis deformity of spine
Kyphosis deformity of spine 		0.100 Biomarker phenotype HPO