×
Entrez Id:
2186
Gene Symbol:
BPTF
BPTF
0.100
CausalMutation
group
CLINVAR
ClinGen--the Clinical Genome Resource.
26014595
2015
×
Entrez Id:
2186
Gene Symbol:
BPTF
BPTF
0.100
CausalMutation
group
CLINVAR
The nucleosome remodeling factor (NURF) regulates genes involved in Drosophila innate immunity.
18334252
2008
×
Entrez Id:
2186
Gene Symbol:
BPTF
BPTF
0.100
CausalMutation
group
CLINVAR
Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome.
22366787
2012
×
Entrez Id:
2186
Gene Symbol:
BPTF
BPTF
0.100
CausalMutation
group
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
0.100
CausalMutation
group
CLINVAR
A 2.3Mb deletion of 17q24.2-q24.3 associated with 'Carney Complex plus'.
18848651
2009
×
Entrez Id:
2186
Gene Symbol:
BPTF
BPTF
0.100
CausalMutation
group
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
0.100
CausalMutation
group
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
0.100
CausalMutation
group
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
0.100
CausalMutation
group
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
0.100
CausalMutation
group
CLINVAR
Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome.
22426308
2012
×
Entrez Id:
2186
Gene Symbol:
BPTF
BPTF
0.100
CausalMutation
group
CLINVAR
The Drosophila nucleosome remodeling factor NURF is required for Ecdysteroid signaling and metamorphosis.
16264191
2005
×
Entrez Id:
2186
Gene Symbol:
BPTF
BPTF
0.100
CausalMutation
group
CLINVAR
Coffin-Siris syndrome: phenotypic evolution of a novel SMARCA4 mutation.
24700502
2014
×
Entrez Id:
2186
Gene Symbol:
BPTF
BPTF
0.100
CausalMutation
group
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
0.100
CausalMutation
group
CLINVAR
Transcriptional regulator BPTF/FAC1 is essential for trophoblast differentiation during early mouse development.
18794365
2008
×
Entrez Id:
2186
Gene Symbol:
BPTF
BPTF
0.100
CausalMutation
group
CLINVAR
Isolation of human NURF: a regulator of Engrailed gene expression.
14609955
2003
×
Entrez Id:
2186
Gene Symbol:
BPTF
BPTF
0.100
CausalMutation
group
CLINVAR
The ISWI-containing NURF complex regulates the output of the canonical Wingless pathway.
19713963
2009
×
Entrez Id:
2186
Gene Symbol:
BPTF
BPTF
0.100
CausalMutation
group
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
0.100
CausalMutation
group
CLINVAR
Dual functions of largest NURF subunit NURF301 in nucleosome sliding and transcription factor interactions.
11583616
2001
×
Entrez Id:
2186
Gene Symbol:
BPTF
BPTF
0.100
CausalMutation
group
CLINVAR
Purification and properties of an ATP-dependent nucleosome remodeling factor.
8521501
1995