Disease: Multiple congenital anomalies ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs753044214
rs753044214
Entrez Id: 2186
Gene Symbol: BPTF
BPTF
CUI: C0000772
Disease:
Multiple congenital anomalies 		CA 0.700 CausalMutation CLINVAR Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features. 28942966 2017
dbSNP: rs753044214
rs753044214
Entrez Id: 2186
Gene Symbol: BPTF
BPTF
CUI: C0000772
Disease:
Multiple congenital anomalies 		CA 0.700 CausalMutation CLINVAR Candidate-gene criteria for clinical reporting: diagnostic exome sequencing identifies altered candidate genes among 8% of patients with undiagnosed diseases. 27513193 2017
dbSNP: rs753044214
rs753044214
Entrez Id: 2186
Gene Symbol: BPTF
BPTF
CUI: C0000772
Disease:
Multiple congenital anomalies 		CA 0.700 CausalMutation CLINVAR ClinGen--the Clinical Genome Resource. 26014595 2015
dbSNP: rs753044214
rs753044214
Entrez Id: 2186
Gene Symbol: BPTF
BPTF
CUI: C0000772
Disease:
Multiple congenital anomalies 		CA 0.700 CausalMutation CLINVAR Coffin-Siris syndrome: phenotypic evolution of a novel SMARCA4 mutation. 24700502 2014
dbSNP: rs753044214
rs753044214
Entrez Id: 2186
Gene Symbol: BPTF
BPTF
CUI: C0000772
Disease:
Multiple congenital anomalies 		CA 0.700 CausalMutation CLINVAR 17q24.2 microdeletions: a new syndromal entity with intellectual disability, truncal obesity, mood swings and hallucinations. 22166941 2012
dbSNP: rs753044214
rs753044214
Entrez Id: 2186
Gene Symbol: BPTF
BPTF
CUI: C0000772
Disease:
Multiple congenital anomalies 		CA 0.700 CausalMutation CLINVAR Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome. 22426308 2012
dbSNP: rs753044214
rs753044214
Entrez Id: 2186
Gene Symbol: BPTF
BPTF
CUI: C0000772
Disease:
Multiple congenital anomalies 		CA 0.700 CausalMutation CLINVAR Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome. 22366787 2012
dbSNP: rs753044214
rs753044214
Entrez Id: 2186
Gene Symbol: BPTF
BPTF
CUI: C0000772
Disease:
Multiple congenital anomalies 		CA 0.700 CausalMutation CLINVAR A 2.3Mb deletion of 17q24.2-q24.3 associated with 'Carney Complex plus'. 18848651 2009
dbSNP: rs753044214
rs753044214
Entrez Id: 2186
Gene Symbol: BPTF
BPTF
CUI: C0000772
Disease:
Multiple congenital anomalies 		CA 0.700 CausalMutation CLINVAR The ISWI-containing NURF complex regulates the output of the canonical Wingless pathway. 19713963 2009
dbSNP: rs753044214
rs753044214
Entrez Id: 2186
Gene Symbol: BPTF
BPTF
CUI: C0000772
Disease:
Multiple congenital anomalies 		CA 0.700 CausalMutation CLINVAR The nucleosome remodeling factor (NURF) regulates genes involved in Drosophila innate immunity. 18334252 2008
dbSNP: rs753044214
rs753044214
Entrez Id: 2186
Gene Symbol: BPTF
BPTF
CUI: C0000772
Disease:
Multiple congenital anomalies 		CA 0.700 CausalMutation CLINVAR Transcriptional regulator BPTF/FAC1 is essential for trophoblast differentiation during early mouse development. 18794365 2008
dbSNP: rs753044214
rs753044214
Entrez Id: 2186
Gene Symbol: BPTF
BPTF
CUI: C0000772
Disease:
Multiple congenital anomalies 		CA 0.700 CausalMutation CLINVAR Essential role of chromatin remodeling protein Bptf in early mouse embryos and embryonic stem cells. 18974875 2008
dbSNP: rs753044214
rs753044214
Entrez Id: 2186
Gene Symbol: BPTF
BPTF
CUI: C0000772
Disease:
Multiple congenital anomalies 		CA 0.700 CausalMutation CLINVAR C. elegans ISWI and NURF301 antagonize an Rb-like pathway in the determination of multiple cell fates. 16774993 2006
dbSNP: rs753044214
rs753044214
Entrez Id: 2186
Gene Symbol: BPTF
BPTF
CUI: C0000772
Disease:
Multiple congenital anomalies 		CA 0.700 CausalMutation CLINVAR Molecular basis for site-specific read-out of histone H3K4me3 by the BPTF PHD finger of NURF. 16728978 2006
dbSNP: rs753044214
rs753044214
Entrez Id: 2186
Gene Symbol: BPTF
BPTF
CUI: C0000772
Disease:
Multiple congenital anomalies 		CA 0.700 CausalMutation CLINVAR The Drosophila nucleosome remodeling factor NURF is required for Ecdysteroid signaling and metamorphosis. 16264191 2005
dbSNP: rs753044214
rs753044214
Entrez Id: 2186
Gene Symbol: BPTF
BPTF
CUI: C0000772
Disease:
Multiple congenital anomalies 		CA 0.700 CausalMutation CLINVAR Isolation of human NURF: a regulator of Engrailed gene expression. 14609955 2003
dbSNP: rs753044214
rs753044214
Entrez Id: 2186
Gene Symbol: BPTF
BPTF
CUI: C0000772
Disease:
Multiple congenital anomalies 		CA 0.700 CausalMutation CLINVAR Dual functions of largest NURF subunit NURF301 in nucleosome sliding and transcription factor interactions. 11583616 2001
dbSNP: rs753044214
rs753044214
Entrez Id: 2186
Gene Symbol: BPTF
BPTF
CUI: C0000772
Disease:
Multiple congenital anomalies 		CA 0.700 CausalMutation CLINVAR FAC1 expression and localization in motor neurons of developing, adult, and amyotrophic lateral sclerosis spinal cord. 9225734 1997
dbSNP: rs753044214
rs753044214
Entrez Id: 2186
Gene Symbol: BPTF
BPTF
CUI: C0000772
Disease:
Multiple congenital anomalies 		CA 0.700 CausalMutation CLINVAR Purification and properties of an ATP-dependent nucleosome remodeling factor. 8521501 1995