Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 7862
Gene Symbol: BRPF1
BRPF1
CUI: C1849265
Disease: Overgrowth
Overgrowth
0.100 CausalMutation CLINVAR Mutations in Histone Acetylase Modifier BRPF1 Cause an Autosomal-Dominant Form of Intellectual Disability with Associated Ptosis. 27939639

2017

Entrez Id: 7862
Gene Symbol: BRPF1
BRPF1
CUI: C1849265
Disease: Overgrowth
Overgrowth
0.100 CausalMutation CLINVAR Mutations in the Chromatin Regulator Gene BRPF1 Cause Syndromic Intellectual Disability and Deficient Histone Acetylation. 27939640

2017