Table 1.

Genes in the GPI biosynthetic pathway anchoring process, Synthesis stage

Gene name (Entrez ID)	# Patients curated	Disease Association	Inheritance
DPM1 (8813)	3	OMIM:608799 CDG, Type Ie [10]	AR
DPM2 (8818)	3	OMIM:615042; CDG, Type Iu [11]	AR
DPM3 (54344)	2	OMIM:612937 CDG, Type Io, Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 15 [12]	AR
MPDU1 (9526)	1	OMIM:609180 CDG, Type If [13]	AR
PIGA (5277)	21	OMIM:300868 Multiple Congenital Anomalies-hypotonia-seizures Syndrome 2 (MCAHS 2); MIM:300818 Paroxysmal Nocturnal Hemoglobinuria 1 [14]	XLR
PIGB (9488)	0	n/a
PIGC (5279)	3	OMIM:617816 GPI Biosynthesis Defect 16 [15]	AR
PIGF (5281)	0	n/a
PIGG (54872)	5	OMIM:616917 Mental Retardation, Autosomal Recessive 53 [16]	AR
PIGH (5283)	1	OMIM: 618010 GPI Biosynthesis Defect 17 [17]	AR
PIGL (9487)	8	OMIM:280000 Chime Syndrome [18–20]	AR
PIGM (93183)	3	OMIM:610293 Glycosylphosphatidylinositol Deficiency [21]	AR
PIGN (23556)	11	OMIM:614080 MCAHS 1	AR
PIGO (84720)	9	OMIM:614749 HPMRS 2	AR
PIGP (51227)	2	OMIM:617599 Epileptic Encephalopathy, Early Infantile, 55 (EIEE 55) [22]	AR
PIGQ (9091)	1	Possible Association With Early Infantile Epileptic Encephalopathy (EIEE) [17, 18]
PIGV (55650)	13	OMIM:239300 HPMRS 1	AR
PIGW (284098)	3	OMIM:616025 GPI Biosynthesis Defect 11	AR
PIGX (54965)	0	n/a
PIGY (84992)	4	OMIM:616025 HPMRS 6	AR

AR Autosomal recessive, AD Autosomal dominant, XLR X-linked recessive. The Online Mendelian Inheritance in Man (OMIM) identifier for the disease is shown if available. Abbreviations: GPI Glycosylphosphatidylinositol, HPMRS Hyperphosphatasia With Mental Retardation Syndrome, MCAHS Multiple congenital anomalies-hypotonia-seizures, CDG Congenital Disorder Of Glycosylation, EIEE Early Infantile Epileptic Encephalopathy, PNH Paroxysmal Nocturnal Hemoglobinuria, ARMR Autosomal recessive mental retardation. “n/a” is entered in the Disease Association column if no such association has been identified to date