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. 2020 Feb 4;15:40. doi: 10.1186/s13023-020-1313-0

Table 2.

Genes in the GPI biosynthetic pathway anchoring process, Transamidase+Remodeling stage. Abbreviations as in Table 1

Gene name (Entrez ID) # Patients curated Disease Association Inheritance
GPAA1 (8733) 10 OMIM:617810 GPI biosynthesis defect 15 AR
MPPE1 (65258) 0 n/a
PGAP1 (80055) 7 OMIM: 615802 Mental retardation, autosomal recessive 42 AR
PGAP2 (27315) 10 OMIM: 614207 HPMRS 3 AR
PGAP3 (93210) 22 OMIM:615716 HPMRS 4 AR
PIGK (10026) 0 n/a
PIGS (94005) 0 OMIM:618143 GPI biosynthesis defect-18 AR
PIGT (51604) 10 OMIM:615399, Paroxysmal nocturnal hemoglobinuria 2, (PNH 2); MIM: 615398 MCAHS 3 AD/AR
PIGU (128869) 0 n/a