Gene: BPTF ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2186
Gene Symbol: BPTF
BPTF 		0.110 CausalMutation disease CLINVAR Candidate-gene criteria for clinical reporting: diagnostic exome sequencing identifies altered candidate genes among 8% of patients with undiagnosed diseases. 27513193 2017
Entrez Id: 2186
Gene Symbol: BPTF
BPTF 		0.110 CausalMutation disease CLINVAR Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features. 28942966 2017
Entrez Id: 2186
Gene Symbol: BPTF
BPTF 		0.110 GeneticVariation disease BEFREE The BPTF variants were found in unrelated individuals aged between 2.1 and 13 years, who manifest variable degrees of developmental delay/intellectual disability (10/10), speech delay (10/10), postnatal microcephaly (7/9), and dysmorphic features (9/10). 28942966 2017
Entrez Id: 2186
Gene Symbol: BPTF
BPTF 		0.110 CausalMutation disease CLINVAR ClinGen--the Clinical Genome Resource. 26014595 2015
Entrez Id: 2186
Gene Symbol: BPTF
BPTF 		0.110 CausalMutation disease CLINVAR Coffin-Siris syndrome: phenotypic evolution of a novel SMARCA4 mutation. 24700502 2014
Entrez Id: 2186
Gene Symbol: BPTF
BPTF 		0.110 CausalMutation disease CLINVAR 17q24.2 microdeletions: a new syndromal entity with intellectual disability, truncal obesity, mood swings and hallucinations. 22166941 2012
Entrez Id: 2186
Gene Symbol: BPTF
BPTF 		0.110 CausalMutation disease CLINVAR Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome. 22366787 2012
Entrez Id: 2186
Gene Symbol: BPTF
BPTF 		0.110 CausalMutation disease CLINVAR Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome. 22426308 2012
Entrez Id: 2186
Gene Symbol: BPTF
BPTF 		0.110 CausalMutation disease CLINVAR A 2.3Mb deletion of 17q24.2-q24.3 associated with 'Carney Complex plus'. 18848651 2009
Entrez Id: 2186
Gene Symbol: BPTF
BPTF 		0.110 CausalMutation disease CLINVAR The ISWI-containing NURF complex regulates the output of the canonical Wingless pathway. 19713963 2009
Entrez Id: 2186
Gene Symbol: BPTF
BPTF 		0.110 CausalMutation disease CLINVAR The nucleosome remodeling factor (NURF) regulates genes involved in Drosophila innate immunity. 18334252 2008
Entrez Id: 2186
Gene Symbol: BPTF
BPTF 		0.110 CausalMutation disease CLINVAR Essential role of chromatin remodeling protein Bptf in early mouse embryos and embryonic stem cells. 18974875 2008
Entrez Id: 2186
Gene Symbol: BPTF
BPTF 		0.110 CausalMutation disease CLINVAR Transcriptional regulator BPTF/FAC1 is essential for trophoblast differentiation during early mouse development. 18794365 2008
Entrez Id: 2186
Gene Symbol: BPTF
BPTF 		0.110 CausalMutation disease CLINVAR C. elegans ISWI and NURF301 antagonize an Rb-like pathway in the determination of multiple cell fates. 16774993 2006
Entrez Id: 2186
Gene Symbol: BPTF
BPTF 		0.110 CausalMutation disease CLINVAR Molecular basis for site-specific read-out of histone H3K4me3 by the BPTF PHD finger of NURF. 16728978 2006
Entrez Id: 2186
Gene Symbol: BPTF
BPTF 		0.110 CausalMutation disease CLINVAR The Drosophila nucleosome remodeling factor NURF is required for Ecdysteroid signaling and metamorphosis. 16264191 2005
Entrez Id: 2186
Gene Symbol: BPTF
BPTF 		0.110 CausalMutation disease CLINVAR Isolation of human NURF: a regulator of Engrailed gene expression. 14609955 2003
Entrez Id: 2186
Gene Symbol: BPTF
BPTF 		0.110 CausalMutation disease CLINVAR Dual functions of largest NURF subunit NURF301 in nucleosome sliding and transcription factor interactions. 11583616 2001
Entrez Id: 2186
Gene Symbol: BPTF
BPTF 		0.110 CausalMutation disease CLINVAR FAC1 expression and localization in motor neurons of developing, adult, and amyotrophic lateral sclerosis spinal cord. 9225734 1997
Entrez Id: 2186
Gene Symbol: BPTF
BPTF 		0.110 CausalMutation disease CLINVAR Purification and properties of an ATP-dependent nucleosome remodeling factor. 8521501 1995