Source: ALL

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 7862
Gene Symbol: BRPF1
BRPF1
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.150 GeneticVariation BEFREE Novel BRPF1 mutation in a boy with intellectual disability, coloboma, facial nerve palsy and hypoplasia of the corpus callosum. 31176769

2019
Entrez Id: 7862
Gene Symbol: BRPF1
BRPF1
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.150 GeneticVariation BEFREE Recently, variants in BRPF1, encoding a chromatin reader, have been associated with a previously unrecognized autosomal dominant syndrome manifesting with intellectual disability (ID), hypotonia, dysmorphic facial features, ptosis, and/or blepharophimosis in 22 individuals. 31020800

2019
Entrez Id: 7862
Gene Symbol: BRPF1
BRPF1
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.150 GeneticVariation BEFREE Haploinsufficiency of the bromodomain and PHD finger-containing protein 1 (<i>BRPF1</i>) gene causes intellectual disability (ID), which is characterized by impaired intellectual and cognitive function; however, the neurological basis for ID and the neurological function of <i>BRPF1</i> dosage in the brain remain unclear. 31213987

2019
Entrez Id: 7862
Gene Symbol: BRPF1
BRPF1
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.150 GeneticVariation BEFREE Here, we describe an intellectual disability disorder in ten individuals with inherited or de novo monoallelic BRPF1 mutations. 27939640

2017
Entrez Id: 7862
Gene Symbol: BRPF1
BRPF1
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.150 Biomarker BEFREE BRPF1 encodes a protein modifier of two histone acetyltransferases associated with ID: KAT6A (also known as MOZ or MYST3) and KAT6B (MORF or MYST4). 27939639

2017
Entrez Id: 7862
Gene Symbol: BRPF1
BRPF1
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.150 Biomarker HPO