TGM5, transglutaminase 5, 9333

N. diseases: 48; N. variants: 12
Disease: PEELING SKIN SYNDROME ×
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: rs606231277
rs606231277 		0.925 0.080 15 43253550 frameshift variant G/- del 1.2E-05
CUI: C1849193
Disease: PEELING SKIN SYNDROME
PEELING SKIN SYNDROME 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 0