DPF2, double PHD fingers 2, 5977

N. diseases: 99; N. variants: 6
Disease: COFFIN-SIRIS SYNDROME 7 ×
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