Glyco-Disease Gene list

Extracted Glyco-Disease Gene list from Glyco-Disease Gene Database (GDGDB)

Gene symbol Disease names Alias disease name Disease type UniProt
AGA Aspartylglucosaminuria --- Lysosomal Storage Diseases (LSDs) P20933
ALG1 ALG1-CDG CDG-Ik, Congenital disorder of glycosylation, type Ik Congenital Disorders of Glycosylation (CDGs) Q9BT22
ALG11 ALG11-CDG CDG-Ip, Congenital Disorder of Glycosylation, Type Ip Congenital Disorders of Glycosylation (CDGs) Q2TAA5
ALG12 ALG12-CDG CDG-Ig, Congenital disorder of glycosylation, type Ig Congenital Disorders of Glycosylation (CDGs) Q9BV10
ALG13 ALG13-CDG CDG-Is, Congenital Disorder of Glycosylation, Type Is Congenital Disorders of Glycosylation (CDGs) Q9NP73
ALG2 ALG2-CDG CDG-Ii, Congenital disorder of glycosylation, type Ii Congenital Disorders of Glycosylation (CDGs) Q9H553
ALG3 ALG3-CDG CDG-Id, Congenital disorder of glycosylation, type Id Congenital Disorders of Glycosylation (CDGs) Q92685
ALG6 ALG6-CDG CDG-Ic, Congenital disorder of glycosylation, type Ic Congenital Disorders of Glycosylation (CDGs) Q9Y672
ALG8 ALG8-CDG CDG-Ih, Congenital disorder of glycosylation, type Ih Congenital Disorders of Glycosylation (CDGs) Q9BVK2
ALG9 ALG9-CDG CDG-IL, Congenital disorder of glycosylation, type IL Congenital Disorders of Glycosylation (CDGs) Q9H6U8
ARSA Metachromatic leukodystrophy, infantile form --- Lysosomal Storage Diseases (LSDs) P15289
ARSA Metachromatic leukodystrophy --- Lysosomal Storage Diseases (LSDs) P15289
ARSA Metachromatic leukodystrophy, adult form --- Lysosomal Storage Diseases (LSDs) P15289
ARSA Metachromatic leukodystrophy, juvenile form --- Lysosomal Storage Diseases (LSDs) P15289
ARSB Maroteaux-Lamy syndrome, intermediate form --- Lysosomal Storage Diseases (LSDs) P15848
ARSB Mucopolysaccharidosis VI MPS VI, Maroteaux-Lamy syndrome Lysosomal Storage Diseases (LSDs) P15848
ARSB Maroteaux-Lamy syndrome, mild form --- Lysosomal Storage Diseases (LSDs) P15848
ARSB Maroteaux-Lamy syndrome, severe form --- Lysosomal Storage Diseases (LSDs) P15848
ASAH1 Farber Lipogranulomatosis, type 5 --- Lysosomal Storage Diseases (LSDs) Q13510
ASAH1 Farber Lipogranulomatosis, type 4 --- Lysosomal Storage Diseases (LSDs) Q13510
ASAH1 Farber Lipogranulomatosis, type 3 --- Lysosomal Storage Diseases (LSDs) Q13510
ASAH1 Farber Lipogranulomatosis, type 1 --- Lysosomal Storage Diseases (LSDs) Q13510
ASAH1 Farber Lipogranulomatosis Acid Ceramidase Deficiency Lysosomal Storage Diseases (LSDs) Q13510
ASAH1 Farber Lipogranulomatosis, type 2 --- Lysosomal Storage Diseases (LSDs) Q13510
ATP6V0A2 ATP6VOA2-CDG ATP6VOA2 defect (cutis laxa type II), Cutis laxa, autosomal recessive, type IIA (ARCL2A), Debre-Type cutis laxa, V-ATPase a2 subunit defect Congenital Disorders of Glycosylation (CDGs) Q9Y487
B3GALTL B3GALTL-CDG Krause-Kivlin syndrome, Peters anomaly with short limb dwarfism, Peters-plus syndrome Congenital Disorders of Glycosylation (CDGs) Q6Y288
B3GAT3 Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects --- Congenital Disorders of Glycosylation (CDGs) O94766
B4GALT1 B4GALT1-CDG CDG-IId, Congenital disorder of glycosylation, type IId Congenital Disorders of Glycosylation (CDGs) P15291
B4GALT7 B4GALT7-CDG Ehlers-Danlos syndrome, progeroid form, Ehlers-Danlos syndrome, progeroid type, 1, Galactosyltransferase 1 deficiency Congenital Disorders of Glycosylation (CDGs) Q9UBV7
C1GALT1C1 Tn polyagglutination syndrome, somatic (SOMATIC MUTATION) Galactosyltransferase Deficiency, Tn syndrome (SOMATIC MUTATION) Congenital Disorders of Glycosylation (CDGs) Q96EU7
CHST14 Ehlers-Danlos syndrome, musculocontractural type Adducted thumb and clubfoot syndrome Congenital Disorders of Glycosylation (CDGs) Q8NCH0
CHST3 Spondyloepiphyseal dysplasia with congenital joint dislocations Spondyloepiphyseal dysplasia, Omani type Congenital Disorders of Glycosylation (CDGs) Q7LGC8
CHST6 Macular corneal dystrophy Macular corneal dystrophy Type I, Macular corneal dystrophy Type II Congenital Disorders of Glycosylation (CDGs) Q9GZX3
CHSY1 Temtamy preaxial brachydactyly syndrome TPBS Congenital Disorders of Glycosylation (CDGs) Q86X52
COG1 COG1-CDG CDG-IIg, CDGII/COG1 Cerebrocostomandibular-like syndrome, COG1 deficiency, Congenital disorder of glycosylation, type IIg Congenital Disorders of Glycosylation (CDGs) Q8WTW3
COG4 COG4-CDG CDG-IIj, Congenital disorder of glycosylation, type IIj Congenital Disorders of Glycosylation (CDGs) Q9H9E3
COG5 COG5-CDG CDG-IIi, Congenital disorder of glycosylation, type IIi Congenital Disorders of Glycosylation (CDGs) Q9UP83
COG6 COG6-CDG CDG-IIL, Congenital Disorder of Glycosylation, Type IIL Congenital Disorders of Glycosylation (CDGs) Q9Y2V7
COG7 COG7-CDG CDG-IIe, Congenital disorder of glycosylation, type IIe Congenital Disorders of Glycosylation (CDGs) P83436
COG8 COG8-CDG CDG-IIh, COG8 deficiency, Congenital disorder of glycosylation, type IIh Congenital Disorders of Glycosylation (CDGs) Q96MW5
CTSA Galactosialidosis Combined deficiency of sialidase AND beta galactosidase Lysosomal Storage Diseases (LSDs) P10619
DDOST DDOST-CDG CDG-Ir, Congenital Disorder of Glycosylation, Type Ir Congenital Disorders of Glycosylation (CDGs) P39656
DMD Duchenne muscular dystrophy DMD, Muscular dystrophy, pseudohypertrophic progressive, Duchenne type Congenital Disorders of Glycosylation (CDGs) P11532
DPAGT1 DPAGT1-CDG CDG-Ij, Congenital disorder of glycosylation, type Ij Congenital Disorders of Glycosylation (CDGs) Q9H3H5
DPM1 DPM1-CDG CDG-Ie, Congenital disorder of glycosylation, type Ie Congenital Disorders of Glycosylation (CDGs) O60762
DPM3 DPM3-CDG CDG-Io, Congenital Disorder of Glycosylation, Type Io Congenital Disorders of Glycosylation (CDGs) Q9P2X0
EXT1,EXT2 EXT1/EXT2-CDG Exostoses, multiple, type 1, Exostoses, multiple, type 2, Hereditary multiple exostoses (HME), Hereditary multiple osteochondromas (HMO), Multiple cartilaginous exostoses Congenital Disorders of Glycosylation (CDGs) ---
FKRP Muscular dystrophy, limb-girdle, type 2I FKRP-CDG (cong. muscular dystrophy spectrum), Limb-girdle muscular dystrophy type 2I (LGMD2I), Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5 (MDDGC5) Congenital Disorders of Glycosylation (CDGs) Q9H9S5
FKRP Muscular dystrophy, congenital, type 1C Congenital muscular dystrophy type 1C (CMD1C), FKRP-CDG (cong. muscular dystrophy spectrum), Muscular dystrophy, congenital, type 1C (MDC1C), Muscular dystrophy-dystroglycanopathy (Congenital with or without mental retardation), type B, 5 (MDDGB5) Congenital Disorders of Glycosylation (CDGs) Q9H9S5
FKTN Fukuyama congenital muscular dystrophy FKTN-CDG (cong. muscular dystrophy spectrum), Fukuyama congenital muscular dystrophy (FCMD), Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 (MDDGA4) Congenital Disorders of Glycosylation (CDGs) O75072
FKTN Muscular dystrophy, limb-girdle, type 2M FKTN-CDG (cong. muscular dystrophy spectrum), Limb-girdle muscular dystrophy type 2M (LGMD2M), Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4 (MDDGC4) Congenital Disorders of Glycosylation (CDGs) O75072
FKTN Cardiomyopathy, dilated, 1X Cardiomyopathy, dilated, 1X (CMD1X), Dilated cardiomyopathy with mild or no proximal muscle weakness, FKTN-CDG (cong. muscular dystrophy spectrum) Congenital Disorders of Glycosylation (CDGs) O75072
FUCA1 Fucosidosis --- Lysosomal Storage Diseases (LSDs) P04066
GAA Pompe disease, infantile-onset form --- Lysosomal Storage Diseases (LSDs) P10253
GAA Pompe disease, late-onset form --- Lysosomal Storage Diseases (LSDs) P10253
GAA Pompe disease GSD type II, Lysosomal alpha 1, 4 Glucosidase Deficiency Disease Lysosomal Storage Diseases (LSDs) P10253
GALC Krabbe disease, late-onset form --- Lysosomal Storage Diseases (LSDs) P54803
GALC Krabbe disease, infantile form --- Lysosomal Storage Diseases (LSDs) P54803
GALC Krabbe disease Galactosylceramide beta-galactosidase deficiency, Globoid cell leukodystrophy, Krabbe leukodystrophy, Leukodystrophy, globoid cell Lysosomal Storage Diseases (LSDs) P54803
GALNS Morquio syndrome A Galactosamine-6-sulphatase deficiency, MPS IVA, Morquio's syndrome, classic form, Mucopolysaccharidosis type IVA Lysosomal Storage Diseases (LSDs) P34059
GALNT3 GALNT3-CDG Tumoral calcinosis, hyperphosphatemic, familial Congenital Disorders of Glycosylation (CDGs) Q14435
GBA Gaucher disease, type IIIC neuronopathic form, cardiovascular form Lysosomal Storage Diseases (LSDs) P04062
GBA Gaucher disease, type II --- Lysosomal Storage Diseases (LSDs) P04062
GBA Gaucher disease, type I non-neuronopathic form Lysosomal Storage Diseases (LSDs) P04062
GBA Gaucher disease, type II, perinatal lethal form --- Lysosomal Storage Diseases (LSDs) P04062
GBA Gaucher disease, type III neuronopathic form Lysosomal Storage Diseases (LSDs) P04062
GBA Gaucher disease, type II, neuronopathic form, classic type --- Lysosomal Storage Diseases (LSDs) P04062
GCS1 GCS1-CDG CDG-IIb, Congenital disorder of glycosylation, type IIb, MOGS-CDG Congenital Disorders of Glycosylation (CDGs) Q13724
GFPT1 Myasthenia, congenital, with tubular aggregates 1 CMSTA1 Congenital Disorders of Glycosylation (CDGs) Q06210
GLA Fabry disease Alpha-galactosidase A deficiency Lysosomal Storage Diseases (LSDs) P06280
GLB1 GM1-gangliosidosis, type I infantile form Lysosomal Storage Diseases (LSDs) P16278
GLB1 GM1-gangliosidosis, type II Derry syndrome, juvenile form Lysosomal Storage Diseases (LSDs) P16278
GLB1 GM1-gangliosidosis, type III adult form Lysosomal Storage Diseases (LSDs) P16278
GLB1 Morquio syndrome B MPS IVB, Morquio-like syndrome, Mucopolysaccharidosis type IVB Lysosomal Storage Diseases (LSDs) P16278
GM2A GM2-gangliosidosis, AB variant GM2 activator deficiency, Tay-Sachs disease, AB variant Lysosomal Storage Diseases (LSDs) P17900
GNE Hereditary inclusion body myopathy type 2 GNE-CDG (hereditary inclusion body myopathy), Hereditary inclusion body myopathy type 2 (HIBM2), Inclusion body myopathy 2, autosomal recessive (IBM2) Congenital Disorders of Glycosylation (CDGs) Q9Y223
GNE Nonaka myopathy Distal myopathy with rimmed vacuoles (DMRV), Distal myopathy, Nonaka type, Nonaka myopathy (NM) Congenital Disorders of Glycosylation (CDGs) Q9Y223
GNPTAB Mucolipidosis III (alpha/beta) ML-III, Pseudo-Hurler Polydystrophy Lysosomal Storage Diseases (LSDs) Q3T906
GNPTAB Mucolipidosis II (alpha/beta) I-cell disease, ML-II, N-Acetylglucosamine-1-phosphotransferase deficiency Lysosomal Storage Diseases (LSDs) Q3T906
GNS Sanfilippo syndrome D MPS IIID, Mucopolysaccharidosis type IIID Lysosomal Storage Diseases (LSDs) P15586
GUSB Mucopolysaccharidosis VII MPS VII, Sly syndrome Lysosomal Storage Diseases (LSDs) P08236
HEXA Tay-Sachs disease, late-onset forms Juvenile/Chronic/Adult-onset Lysosomal Storage Diseases (LSDs) P06865
HEXA Tay-Sachs disease, infantile form Acute infantile Lysosomal Storage Diseases (LSDs) P06865
HEXA Tay-Sachs disease GM2-Gangliosidosis, B variant, GM2-gangliosidosis, type I, Hexosaminidase A deficiency Lysosomal Storage Diseases (LSDs) P06865
HEXB Sandhoff disease GM2-gangliosidosis, type II Lysosomal Storage Diseases (LSDs) P07686
HEXB Sandhoff disease, juvenile form --- Lysosomal Storage Diseases (LSDs) P07686
HEXB Sandhoff disease, infantile form --- Lysosomal Storage Diseases (LSDs) P07686
HEXB Sandhoff disease, adult form --- Lysosomal Storage Diseases (LSDs) P07686
HGSNAT Sanfilippo syndrome C MPS IIIC, Mucopolysaccharidosis type IIIC Lysosomal Storage Diseases (LSDs) Q68CP4
IDS Mucopolysaccharidosis II Hunter syndrome, MPS II Lysosomal Storage Diseases (LSDs) P22304
IDUA Scheie syndrome MPS1-S, Mucopolysaccharidosis type IS, Mucopolysaccharidosis type V, Scheie's syndrome Lysosomal Storage Diseases (LSDs) P35475
IDUA Hurler-Scheie syndrome MPS1-HS, Mucopolysaccharidosis type IH/S Lysosomal Storage Diseases (LSDs) P35475
IDUA Hurler syndrome Gargoylism, Hurler syndrome, MPS1-H, Mucopolysaccharidosis type IH, Pfaundler-Hurler syndrome Lysosomal Storage Diseases (LSDs) P35475
LARGE LARGE-CDG (cong. muscular dystrophy spectrum) Congenital muscular dystrophy type 1D (CMD1D), Muscular dystrophy, congenital, type 1D (MDC1D), Muscular dystrophy-dystroglycanopathy (Congenital with mental retardation), type B, 6 (MDDGB6) Congenital Disorders of Glycosylation (CDGs) O95461
LFNG LFNG-CDG SCDO3, Spondylocostal dysostosis 3, autosomal recessive Congenital Disorders of Glycosylation (CDGs) Q8NES3
LIPA Wolman disease Acid lipase deficiency, Lysosomal acid lipase deficiency Lysosomal Storage Diseases (LSDs) P38571
MAN1B1 Mental retardation, autosomal recessive 15 MRT15 Congenital Disorders of Glycosylation (CDGs) Q9UKM7
MAN2B1 Alpha-mannosidosis, type II (later-onset) --- Lysosomal Storage Diseases (LSDs) O00754
MAN2B1 Alpha-mannosidosis, type I (early-onset) --- Lysosomal Storage Diseases (LSDs) O00754
MAN2B1 Alpha-mannosidosis Alpha-mannosidase B deficiency Lysosomal Storage Diseases (LSDs) O00754
MANBA Beta-mannosidosis Beta-mannosidase deficiency Lysosomal Storage Diseases (LSDs) O00462
MGAT2 MGAT2-CDG CDG-IIa, Congenital disorder of glycosylation, type IIa Congenital Disorders of Glycosylation (CDGs) Q10469
MPDU1 MPDU1-CDG CDG-If, Congenital disorder of glycosylation, type If Congenital Disorders of Glycosylation (CDGs) O75352
MPI MPI-CDG CDG-Ib, Congenital disorder of glycosylation, type Ib, Mannosephosphate isomerase deficiency, Protein-losing enteropathy-hepatic fibrosis syndrome, Saguenay-Lac Saint-Jean syndrome Congenital Disorders of Glycosylation (CDGs) P34949
NAGA Schindler disease, type I infantile type Lysosomal Storage Diseases (LSDs) P17050
NAGA Schindler disease, type II Kanzaki disease Lysosomal Storage Diseases (LSDs) P17050
NAGLU Sanfilippo syndrome B MPS IIIB, Mucopolysaccharidosis type IIIB Lysosomal Storage Diseases (LSDs) P54802
NEU1 Sialidosis Mucolipidosis I, Neuraminidase deficiency Lysosomal Storage Diseases (LSDs) Q99519
NEU1 Sialidosis type I Cherry-red spot myoclonus syndrome, Normosomatic sialidosis Lysosomal Storage Diseases (LSDs) Q99519
NEU1 Sialidosis type II Dysmorphic sialidosis, Neuraminidase 1 deficiency Lysosomal Storage Diseases (LSDs) Q99519
NEU1 Sialidosis type II, infantile form --- Lysosomal Storage Diseases (LSDs) Q99519
NEU1 Sialidosis type II, juvenile form --- Lysosomal Storage Diseases (LSDs) Q99519
NEU1 Sialidosis type II, congenital form --- Lysosomal Storage Diseases (LSDs) Q99519
NPC1 Niemann-Pick disease, type C1 Niemann-Pick disease, type D, included Lysosomal Storage Diseases (LSDs) O15118
NPC2 Niemann-Pick disease, type C2 --- Lysosomal Storage Diseases (LSDs) P61916
PAPSS2 Spondyloepimetaphyseal dysplasia, pakistani type Brachyolmia 4 with mild epiphyseal and metaphyseal changes, SEMD, pakistani type Congenital Disorders of Glycosylation (CDGs) O95340
PGM1 PGM1-CDG CDG-It, Congenital Disorder of Glycosylation, Type It Congenital Disorders of Glycosylation (CDGs) P36871
PIGA Paroxysmal nocturnal hemoglobinuria, somatic (SOMATIC MUTATION) PNH1, Paroxysmal nocturnal hemoglobinuria 1 Congenital Disorders of Glycosylation (CDGs) P37287
PIGM PIGM-CDG Autosomal recessive GPI anchor deficiency, Glycosylphosphatidylinositol deficiency Congenital Disorders of Glycosylation (CDGs) Q9H3S5
PIGN Multiple congenital anomalies-hypotonia-seizures syndrome 1 MCAHS1 Congenital Disorders of Glycosylation (CDGs) O95427
PIGV Hyperphosphatasia with mental retardation syndrome 1 HPMRS1 Congenital Disorders of Glycosylation (CDGs) Q9NUD9
PLOD1 Ehlers-Danlos syndrome, type VI Ehlers-Danlos syndrome, kyphoscoliotic type, Nevo syndrome Congenital Disorders of Glycosylation (CDGs) Q02809
PLOD2 Bruck syndrome 2 BRKS2, Osteogenesis imperfecta with congenital joint contractures Congenital Disorders of Glycosylation (CDGs) O00469
PLOD3 Lysyl hydroxylase 3 deficiency Bone fragility with contractures, arterial rupture, and deafness, LH3 deficiency Congenital Disorders of Glycosylation (CDGs) O60568
PMM2 PMM2-CDG, late-infantile and childhood ataxia-intellectual disability stage --- Congenital Disorders of Glycosylation (CDGs) O15305
PMM2 PMM2-CDG, infantile multisystem stage --- Congenital Disorders of Glycosylation (CDGs) O15305
PMM2 PMM2-CDG, adult stable disability stage --- Congenital Disorders of Glycosylation (CDGs) O15305
PMM2 PMM2-CDG CDG-Ia, Congenital disorder of glycosylation, type Ia, Jaeken syndrome, Phosphomannomutase 2 deficiency Congenital Disorders of Glycosylation (CDGs) O15305
POMGNT1 POMGNT1-CDG (cong. muscular dystrophy spectrum) Muscle-eye-brain disease (MEB), Muscular dystrophy-dystroglycanopathy (Congenital with brain and eye anomalies), type A, 3 (MDDGA3) Congenital Disorders of Glycosylation (CDGs) Q8WZA1
POMT1,POMT2 POMT1/POMT2-CDG (cong. muscular dystrophy spectrum) Muscular dystrophy-dystroglycanopathy (Congenital with brain and eye anomalies), type A, 1 (MDDGA1), Muscular dystrophy-dystroglycanopathy (Congenital with brain and eye anomalies), type A, 2 (MDDGA2), Walker-Warburg syndrome (WWS) Congenital Disorders of Glycosylation (CDGs) ---
PSAP Combined saposin deficiency prosaposin deficiency, saposin deficiency Lysosomal Storage Diseases (LSDs) P07602
PSAP Gaucher disease, atypical, due to saposin C deficiency --- Lysosomal Storage Diseases (LSDs) P07602
PSAP Metachromatic leukodystrophy, due to saposin B deficiency Sphingolipid activator protein 1 deficiency Lysosomal Storage Diseases (LSDs) P07602
RFT1 RFT1-CDG CDG-In, Congenital disorder of glycosylation, type In, RFT1 (flippase) deficiency Congenital Disorders of Glycosylation (CDGs) Q96AA3
SEC23B SEC23B-CDG CDA II, Congenital dyserythropoietic anaemia, type II, Hereditary Erythroblastic Multinuclearity with Positive Acidified-Serum Test (HEMPAS) Congenital Disorders of Glycosylation (CDGs) Q15437
SGSH Sanfilippo syndrome A MPS IIIA, Mucopolysaccharidosis type IIIA Lysosomal Storage Diseases (LSDs) P51688
SIAT9 ST3GAL5-CDG Amish infantile epilepsy syndrome, Epilepsy syndrome, infantile-onset symptomatic, GM3 Synthase deficiency Congenital Disorders of Glycosylation (CDGs) Q9UNP4
SLC26A2 Diastrophic dysplasia Diastrophic dwarfism Congenital Disorders of Glycosylation (CDGs) P50443
SLC26A2 Neonatal osseous dysplasia I Atelosteogenesis, type II (AOII) Congenital Disorders of Glycosylation (CDGs) P50443
SLC26A2 Autosomal recessive multiple epiphyseal dysplasia Epiphyseal dysplasia, multiple, 4 (EDM4) Congenital Disorders of Glycosylation (CDGs) P50443
SLC26A2 Achondrogenesis type IB ACG1B, Achondrogenesis, Fraccaro type Congenital Disorders of Glycosylation (CDGs) P50443
SLC35A1 SLC35A1-CDG CDG-IIf, Congenital disorder of glycosylation, type IIf Congenital Disorders of Glycosylation (CDGs) P78382
SLC35C1 SLC35C1-CDG CDG-IIc, Congenital disorder of glycosylation, type IIc, Leukocyte adhesion deficiency, type 2, Rambam Hasharon syndrome Congenital Disorders of Glycosylation (CDGs) Q96A29
SLC35D1 SLC35D1-CDG Chondrodysplasia, lethal neonatal, with snail-like pelvis, Schneckenbecken dysplasia Congenital Disorders of Glycosylation (CDGs) Q9NTN3
SMPD1 Niemann-Pick disease, type B non-neurological type Lysosomal Storage Diseases (LSDs) P17405
SMPD1 Niemann-Pick disease, type A neurological type Lysosomal Storage Diseases (LSDs) P17405
SRD5A3 SRD5A3-CDG CDG-Iq, Congenital Disorder of Glycosylation, Type Iq, Ocular colobomas, ichthyosis, brain malformations and endocrine abnormalities Congenital Disorders of Glycosylation (CDGs) Q9H8P0
ST3GAL3 Mental retardation, autosomal recessive 12 MRT12 Congenital Disorders of Glycosylation (CDGs) Q11203
SUMF1 Multiple sulfatase deficiency MSD, Multiple sulfatase deficiency disease Lysosomal Storage Diseases (LSDs) Q8NBK3
TMEM15 DOLK-CDG CDG-Im, Congenital disorder of glycosylation, type Im, DK1 deficiency, DK1-CDG, Dolichol kinase deficiency Congenital Disorders of Glycosylation (CDGs) Q9UPQ8
TMEM165 TMEM165-CDG CDG-IIk, Congenital Disorder of Glycosylation, Type IIk Congenital Disorders of Glycosylation (CDGs) Q9HC07
TUSC3 TUSC3-CDG Mental retardation, autosomal recessive 22, Mental retardation, autosomal recessive 7 (MRT7), Oligosaccharyltransferase TUSC3 subunit defect Congenital Disorders of Glycosylation (CDGs) Q13454


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