Disease: Sleep disturbances ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1135401778
rs1135401778
Entrez Id: 2186
Gene Symbol: BPTF
BPTF
CUI: C0037317
Disease:
Sleep disturbances 		C 0.700 CausalMutation CLINVAR Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features. 28942966 2017