GBE1, 1,4-alpha-glucan branching enzyme 1, 2632

N. diseases: 102; N. variants: 48
Disease: MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1490328834
rs1490328834 		1.000 0.120 3 81642817 missense variant T/C snv 4.0E-06
CUI: C1854678
Disease: MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE
MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.010 1.000 1 2013 2013