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Table 1 Genes in the GPI biosynthetic pathway anchoring process, Synthesis stage

From: Significantly different clinical phenotypes associated with mutations in synthesis and transamidase+remodeling glycosylphosphatidylinositol (GPI)-anchor biosynthesis genes

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 [18,19,20] 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
  1. 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