PMID-sentid	Pub_year	Sent_text	compound_name	comp_offset	prot_official_name	organism	prot_offset
33897417-5	2021	The Core Protein protein interaction (PPI) network of the 150 intersections between CDG and PD-related genes, comprising 23 proteins, including CASP3 (caspase-3), MAPK8 (JNK), FOS (c-Fos), and JUN (c-Jun).	cdg	84-87	caspase 3	Rattus norvegicus	144-149
33403770-1	2021	Pathogenic variants in Steroid 5 alpha reductase type 3 (SRD5A3) cause rare inherited congenital disorder of glycosylation known as SRD5A3-CDG (MIM# 612379).	cdg	139-142	steroid 5 alpha-reductase 3	Homo sapiens	57-63
33403770-1	2021	Pathogenic variants in Steroid 5 alpha reductase type 3 (SRD5A3) cause rare inherited congenital disorder of glycosylation known as SRD5A3-CDG (MIM# 612379).	cdg	139-142	steroid 5 alpha-reductase 3	Homo sapiens	132-138
33403770-8	2021	The current work integrates genotypic, 3D structural modeling and phenotypic characteristics of CDG-SRD5A3 cases with the successful development of computer tool for accurate facial recognition of CDG-SRD5A3 complex cases to assist in the diagnosis of this particular disorder globally.	cdg	96-99	steroid 5 alpha-reductase 3	Homo sapiens	100-106
34043239-0	2021	A New D-Galactose Treatment Monitoring Index for PGM1-CDG.	cdg	54-57	phosphoglucomutase 1	Homo sapiens	49-53
20301289-0	1993	PMM2-CDG (CDG-Ia) CLINICAL CHARACTERISTICS: PMM2-CDG (CDG-Ia) (previously known as congenital disorder of glycosylation type 1a), the most common of a group of disorders of abnormal glycosylation of N-linked oligosaccharides, is divided into three types: infantile multisystem, late-infantile and childhood ataxia-intellectual disability, and adult stable disability.	cdg	5-8	phosphomannomutase 2	Homo sapiens	0-4
20301289-0	1993	PMM2-CDG (CDG-Ia) CLINICAL CHARACTERISTICS: PMM2-CDG (CDG-Ia) (previously known as congenital disorder of glycosylation type 1a), the most common of a group of disorders of abnormal glycosylation of N-linked oligosaccharides, is divided into three types: infantile multisystem, late-infantile and childhood ataxia-intellectual disability, and adult stable disability.	cdg	5-8	phosphomannomutase 2	Homo sapiens	44-48
20301289-11	1993	DIAGNOSIS/TESTING: The diagnosis of PMM2-CDG (CDG-Ia) is established in a proband with type I transferrin isoform pattern and either identification of biallelic pathogenic variants in PMM2 on molecular genetic testing or low levels of phosphomannomutase (PMM) enzyme activity if results of molecular genetic testing are uncertain.	cdg	41-44	phosphomannomutase 2	Homo sapiens	36-40
20301289-11	1993	DIAGNOSIS/TESTING: The diagnosis of PMM2-CDG (CDG-Ia) is established in a proband with type I transferrin isoform pattern and either identification of biallelic pathogenic variants in PMM2 on molecular genetic testing or low levels of phosphomannomutase (PMM) enzyme activity if results of molecular genetic testing are uncertain.	cdg	41-44	phosphomannomutase 2	Homo sapiens	184-188
20301289-11	1993	DIAGNOSIS/TESTING: The diagnosis of PMM2-CDG (CDG-Ia) is established in a proband with type I transferrin isoform pattern and either identification of biallelic pathogenic variants in PMM2 on molecular genetic testing or low levels of phosphomannomutase (PMM) enzyme activity if results of molecular genetic testing are uncertain.	cdg	46-49	phosphomannomutase 2	Homo sapiens	36-40
20301289-11	1993	DIAGNOSIS/TESTING: The diagnosis of PMM2-CDG (CDG-Ia) is established in a proband with type I transferrin isoform pattern and either identification of biallelic pathogenic variants in PMM2 on molecular genetic testing or low levels of phosphomannomutase (PMM) enzyme activity if results of molecular genetic testing are uncertain.	cdg	46-49	phosphomannomutase 2	Homo sapiens	184-188
33897417-7	2021	Since c-Jun and c-Fos are AP-1 subunits, an important downstream JNK effector, we investigated if the JNK/AP-1 pathway influences CDG against apoptosis through the nigrostriatal pathways in PD rat models.	cdg	130-133	mitogen-activated protein kinase 8	Rattus norvegicus	102-105
33897417-9	2021	Experimental validation analysis showed that CDG decreased the number of rotating laps and suppressed the levels of phosphorylated c-Jun, c-Fos, and JNK, as well as the number of TUNEL positive cells and the cleaved caspase-3 level in the nigrostriatal pathway.	cdg	45-48	Jun proto-oncogene, AP-1 transcription factor subunit	Rattus norvegicus	131-136
33897417-9	2021	Experimental validation analysis showed that CDG decreased the number of rotating laps and suppressed the levels of phosphorylated c-Jun, c-Fos, and JNK, as well as the number of TUNEL positive cells and the cleaved caspase-3 level in the nigrostriatal pathway.	cdg	45-48	Fos proto-oncogene, AP-1 transcription factor subunit	Rattus norvegicus	138-143
33897417-9	2021	Experimental validation analysis showed that CDG decreased the number of rotating laps and suppressed the levels of phosphorylated c-Jun, c-Fos, and JNK, as well as the number of TUNEL positive cells and the cleaved caspase-3 level in the nigrostriatal pathway.	cdg	45-48	mitogen-activated protein kinase 8	Rattus norvegicus	149-152
33897417-9	2021	Experimental validation analysis showed that CDG decreased the number of rotating laps and suppressed the levels of phosphorylated c-Jun, c-Fos, and JNK, as well as the number of TUNEL positive cells and the cleaved caspase-3 level in the nigrostriatal pathway.	cdg	45-48	caspase 3	Rattus norvegicus	216-225
33897417-10	2021	Furthermore, CDG treatment elevated the number of TH neurons, TH expression level, and Bcl-2/Bax protein ratio in a 6-OHDA-induced PD rat.	cdg	13-16	tyrosine hydroxylase	Rattus norvegicus	50-52
33897417-10	2021	Furthermore, CDG treatment elevated the number of TH neurons, TH expression level, and Bcl-2/Bax protein ratio in a 6-OHDA-induced PD rat.	cdg	13-16	tyrosine hydroxylase	Rattus norvegicus	62-64
33897417-10	2021	Furthermore, CDG treatment elevated the number of TH neurons, TH expression level, and Bcl-2/Bax protein ratio in a 6-OHDA-induced PD rat.	cdg	13-16	BCL2, apoptosis regulator	Rattus norvegicus	87-92
33897417-10	2021	Furthermore, CDG treatment elevated the number of TH neurons, TH expression level, and Bcl-2/Bax protein ratio in a 6-OHDA-induced PD rat.	cdg	13-16	BCL2 associated X, apoptosis regulator	Rattus norvegicus	93-96
33897417-12	2021	In conclusion, CDG suppresses the apoptosis of the nigrostriatal pathway and relieves PD symptoms by suppressing the JNK/AP-1 signaling pathway.	cdg	15-18	mitogen-activated protein kinase 8	Rattus norvegicus	117-120
33897417-12	2021	In conclusion, CDG suppresses the apoptosis of the nigrostriatal pathway and relieves PD symptoms by suppressing the JNK/AP-1 signaling pathway.	cdg	15-18	Jun proto-oncogene, AP-1 transcription factor subunit	Rattus norvegicus	121-125
33632285-0	2021	Spontaneous improvement of carbohydrate-deficient transferrin in PMM2-CDG without mannose observed in CDG natural history study.	cdg	70-73	transferrin	Homo sapiens	50-61
33632285-0	2021	Spontaneous improvement of carbohydrate-deficient transferrin in PMM2-CDG without mannose observed in CDG natural history study.	cdg	70-73	phosphomannomutase 2	Homo sapiens	65-69
33728255-5	2021	Additional clinical and biochemical data provide further insight into the mechanism and prognosis of SLC37A4-CDG.	cdg	109-112	solute carrier family 37 member 4	Homo sapiens	101-108
33305564-7	2020	In vivo cdG@RMSN-PEG-TA enhanced infiltration of leukocytes, including CD11c+ dendritic cells, F4/80+ macrophages, CD4+ T cells, and CD8+ T cells within the tumor microenvironment (TME), resulting in dramatic tumor growth inhibition in 4T1 breast tumor-bearing Balb/c mice.	cdg	8-11	integrin subunit alpha X	Homo sapiens	71-76
33058492-0	2021	Epilepsy and movement disorders in CDG: Report on the oldest-known MOGS-CDG patient.	cdg	35-38	mannosyl-oligosaccharide glucosidase	Homo sapiens	67-71
33058492-9	2021	We report the oldest-known MOGS-CDG patient and broaden the neurological phenotype of this CDG.	cdg	32-35	mannosyl-oligosaccharide glucosidase	Homo sapiens	27-31
33305564-6	2020	Treatment of RAW 264.7 cells with cdG@RMSN-PEG-TA markedly stimulated the secretion of IL-6, IL-1beta, and IFN-beta along with phospho-STING (Ser365) protein expression.	cdg	34-37	interleukin 6	Mus musculus	87-91
33305564-6	2020	Treatment of RAW 264.7 cells with cdG@RMSN-PEG-TA markedly stimulated the secretion of IL-6, IL-1beta, and IFN-beta along with phospho-STING (Ser365) protein expression.	cdg	34-37	interleukin 1 alpha	Mus musculus	93-101
33305564-6	2020	Treatment of RAW 264.7 cells with cdG@RMSN-PEG-TA markedly stimulated the secretion of IL-6, IL-1beta, and IFN-beta along with phospho-STING (Ser365) protein expression.	cdg	34-37	interferon alpha	Mus musculus	107-115
33305564-7	2020	In vivo cdG@RMSN-PEG-TA enhanced infiltration of leukocytes, including CD11c+ dendritic cells, F4/80+ macrophages, CD4+ T cells, and CD8+ T cells within the tumor microenvironment (TME), resulting in dramatic tumor growth inhibition in 4T1 breast tumor-bearing Balb/c mice.	cdg	8-11	CD4 antigen	Mus musculus	115-118
30701557-0	2019	Factor VIII and vWF deficiency in STT3A-CDG.	cdg	40-43	STT3 oligosaccharyltransferase complex catalytic subunit A	Homo sapiens	34-39
32790950-2	2020	ATP6AP1-related disorders are a subtype of CDG, which result in enzyme deficiencies affecting multiple organ systems ranging from mild to life-threatening.	cdg	43-46	ATPase H+ transporting accessory protein 1	Homo sapiens	0-7
33076454-8	2020	Defects in proteins involved in Golgi trafficking (COG5-CDG) and CMP-sialic acid transport (SLC35A1-CDG) resulted in lower levels of sialylated structures on plasma proteins as compared to healthy controls.	cdg	56-59	component of oligomeric golgi complex 5	Homo sapiens	51-55
30817854-1	2019	Pathogenic de novo variants in the X-linked gene SLC35A2 encoding the major Golgi-localized UDP-galactose transporter required for proper protein and lipid glycosylation cause a rare type of congenital disorder of glycosylation known as SLC35A2-congenital disorders of glycosylation (CDG; formerly CDG-IIm).	cdg	284-287	solute carrier family 35 member A2	Homo sapiens	49-56
30817854-1	2019	Pathogenic de novo variants in the X-linked gene SLC35A2 encoding the major Golgi-localized UDP-galactose transporter required for proper protein and lipid glycosylation cause a rare type of congenital disorder of glycosylation known as SLC35A2-congenital disorders of glycosylation (CDG; formerly CDG-IIm).	cdg	298-301	solute carrier family 35 member A2	Homo sapiens	49-56
30817854-5	2019	Here we present data characterizing 30 individuals and add 26 new variants, the single largest study involving SLC35A2-CDG.	cdg	119-122	solute carrier family 35 member A2	Homo sapiens	111-118
30902713-1	2019	Chitosan/alginate nanoparticles (CANPs) were formulated to encapsulate curcumin diethyl diglutarate (CDG) for oral delivery.	cdg	101-104	calpain small subunit 1	Homo sapiens	33-38
30902713-2	2019	CDG-loaded CANPs (CDG-CANPs) were prepared by o/w emulsification and ionotropic gelation.	cdg	0-3	calpain small subunit 1	Homo sapiens	11-16
30902713-2	2019	CDG-loaded CANPs (CDG-CANPs) were prepared by o/w emulsification and ionotropic gelation.	cdg	0-3	calpain small subunit 1	Homo sapiens	18-27
30902713-10	2019	The overall results suggest that CANPs are promising candidates for encapsulation, protection and controlled release of CDG, a hydrophobic compound, with an improvement of physicochemical stabilities, digestibility, bioaccessibility and cellular uptake.	cdg	120-123	calpain small subunit 1	Homo sapiens	33-38
32681751-3	2020	Twenty-four previously reported ALG13-CDG cases had de novo variants, but surprisingly, unlike most forms of CDG, ALG13-CDG did not show the anticipated glycosylation defects, typically detected by altered transferrin glycosylation.	cdg	38-41	N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase catalytic subunit ALG13	Saccharomyces cerevisiae S288C	32-37
33473337-2	2021	To our knowledge, he is the first patient with PGM1-CDG to be reported with a restrictive cardiomyopathy.	cdg	52-55	phosphoglucomutase 1	Homo sapiens	47-51
32962735-1	2020	BACKGROUND: PMM2-CDG (CDG-Ia) is the most frequent N-glycosylation disorder.	cdg	17-20	phosphomannomutase 2	Homo sapiens	12-16
32685345-6	2020	The patient was diagnosed with a complete maternal mixed hetero/isodisomy of chromosome 16, with a homozygous pathogenic PMM2 variant (p.Phe119Leu) causing PMM2-CDG.A literature review revealed eight cases of uniparental disomy as an underlying cause of CDG, four of which are PMM2-CDG.	cdg	161-164	phosphomannomutase 2	Homo sapiens	121-125
32685345-6	2020	The patient was diagnosed with a complete maternal mixed hetero/isodisomy of chromosome 16, with a homozygous pathogenic PMM2 variant (p.Phe119Leu) causing PMM2-CDG.A literature review revealed eight cases of uniparental disomy as an underlying cause of CDG, four of which are PMM2-CDG.	cdg	161-164	phosphomannomutase 2	Homo sapiens	156-160
32685345-6	2020	The patient was diagnosed with a complete maternal mixed hetero/isodisomy of chromosome 16, with a homozygous pathogenic PMM2 variant (p.Phe119Leu) causing PMM2-CDG.A literature review revealed eight cases of uniparental disomy as an underlying cause of CDG, four of which are PMM2-CDG.	cdg	161-164	phosphomannomutase 2	Homo sapiens	156-160
31117816-3	2019	METHODS: We studied 29 patients with the 2 most prevalent types of type I CDG, ALG6 (asparagine-linked glycosylation protein 6)-deficiency CDG and PMM2 (phosphomannomutase 2)-deficiency CDG, and 23 first- and second-degree relatives with a heterozygous mutation and measured plasma cholesterol levels.	cdg	139-142	ALG6 alpha-1,3-glucosyltransferase	Homo sapiens	79-83
31117816-3	2019	METHODS: We studied 29 patients with the 2 most prevalent types of type I CDG, ALG6 (asparagine-linked glycosylation protein 6)-deficiency CDG and PMM2 (phosphomannomutase 2)-deficiency CDG, and 23 first- and second-degree relatives with a heterozygous mutation and measured plasma cholesterol levels.	cdg	139-142	ALG6 alpha-1,3-glucosyltransferase	Homo sapiens	79-83
30464053-0	2019	From gestalt to gene: early predictive dysmorphic features of PMM2-CDG.	cdg	67-70	phosphomannomutase 2	Homo sapiens	62-66
30701557-9	2019	Our report expands both the genotype and phenotype of STT3A-CDG; demonstrating, as in most types of CDG, that there are multiple disease-causing variants in STT3A.	cdg	60-63	STT3 oligosaccharyltransferase complex catalytic subunit A	Homo sapiens	54-59
30701557-9	2019	Our report expands both the genotype and phenotype of STT3A-CDG; demonstrating, as in most types of CDG, that there are multiple disease-causing variants in STT3A.	cdg	60-63	STT3 oligosaccharyltransferase complex catalytic subunit A	Homo sapiens	157-162
30701557-9	2019	Our report expands both the genotype and phenotype of STT3A-CDG; demonstrating, as in most types of CDG, that there are multiple disease-causing variants in STT3A.	cdg	100-103	STT3 oligosaccharyltransferase complex catalytic subunit A	Homo sapiens	54-59
30701557-9	2019	Our report expands both the genotype and phenotype of STT3A-CDG; demonstrating, as in most types of CDG, that there are multiple disease-causing variants in STT3A.	cdg	100-103	STT3 oligosaccharyltransferase complex catalytic subunit A	Homo sapiens	157-162
31638560-3	2019	In this study, we summarize ocular phenotypes and SRD5A3 variants reported to be associated with SRD5A3-CDG.	cdg	104-107	steroid 5 alpha-reductase 3	Homo sapiens	50-56
30740725-4	2019	In this article, a systematic review of the literature on PMM2-CDG was conducted by a group of international experts in different aspects of CDG.	cdg	63-66	phosphomannomutase 2	Homo sapiens	58-62
30097106-2	2018	The biosynthesis of CDG from GTP requires three enzymes: GTP cyclohydrolase I, 6-carboxy-5,6,7,8-tetrahydropterin (CPH4) synthase, and CDG synthase (QueE).	cdg	20-23	GTP cyclohydrolase 1	Homo sapiens	57-77
30389790-11	2018	We propose that accumulation of G3M9-bearing glycoproteins is toxic and at least partially responsible for defects observed in MOGS-CDG.	cdg	132-135	mannosyl-oligosaccharide glucosidase	Homo sapiens	127-131
30019980-0	2018	Early-onset retinal dystrophy and chronic dermatitis in a girl with an undiagnosed congenital disorder of glycosylation (SRD5A3-CDG).	cdg	128-131	steroid 5 alpha-reductase 3	Homo sapiens	121-127
30061496-1	2018	Type I disorders of glycosylation (CDG), the most frequent of which is phosphomannomutase 2 (PMM2-CDG), are a group of diseases causing the incomplete N-glycosylation of proteins.	cdg	35-38	phosphomannomutase 2	Homo sapiens	71-91
30061496-1	2018	Type I disorders of glycosylation (CDG), the most frequent of which is phosphomannomutase 2 (PMM2-CDG), are a group of diseases causing the incomplete N-glycosylation of proteins.	cdg	35-38	phosphomannomutase 2	Homo sapiens	93-97
29907092-9	2018	CONCLUSION: This patient report increases the clinical and scientific knowledge of SLC35A2-CDG, a rare condition.	cdg	91-94	solute carrier family 35 member A2	Homo sapiens	83-90
29907092-11	2018	This new information will be helpful to clinicians caring for individuals with SLC35A2-CDG.	cdg	87-90	solute carrier family 35 member A2	Homo sapiens	79-86
29472449-3	2018	In this paper, we determine that the gene responsible for it768 was the zebrafish homolog of phosphomannomutase 2 (Pmm2), which is a key enzyme in the initial steps of N-glycosylation, and its mutation in humans leads to PMM2-CDG (congenital disorders of glycosylation), the most frequent type of CDG.	cdg	226-229	phosphomannomutase 2	Danio rerio	93-113
29472449-3	2018	In this paper, we determine that the gene responsible for it768 was the zebrafish homolog of phosphomannomutase 2 (Pmm2), which is a key enzyme in the initial steps of N-glycosylation, and its mutation in humans leads to PMM2-CDG (congenital disorders of glycosylation), the most frequent type of CDG.	cdg	226-229	phosphomannomutase 2	Danio rerio	115-119
29472449-3	2018	In this paper, we determine that the gene responsible for it768 was the zebrafish homolog of phosphomannomutase 2 (Pmm2), which is a key enzyme in the initial steps of N-glycosylation, and its mutation in humans leads to PMM2-CDG (congenital disorders of glycosylation), the most frequent type of CDG.	cdg	226-229	phosphomannomutase 2	Danio rerio	221-225
29472449-4	2018	The pmm2it768 larvae exhibited mild defects in N-glycosylation, indicating that the pmm2it768 mutation is a hypomorph, as in human PMM2-CDG patients.	cdg	136-139	phosphomannomutase 2	Homo sapiens	131-135
29470411-12	2018	CaV2.1 hypoglycosylation may cause ataxia and SLEs in PMM2-CDG patients.	cdg	59-62	calcium voltage-gated channel subunit alpha1 A	Homo sapiens	0-6
29470411-12	2018	CaV2.1 hypoglycosylation may cause ataxia and SLEs in PMM2-CDG patients.	cdg	59-62	phosphomannomutase 2	Homo sapiens	54-58
28236367-2	2018	Genetic variants of transferrin as well as the primary (CDG) & secondary glycosylation defects lead to an altered transferrin pattern.	cdg	56-59	transferrin	Homo sapiens	118-129
28816422-3	2017	Biallelic mutations in DOLK, the gene for DK, result in human in a CDG with variable symptoms, ranging from nonsyndromic dilated cardiomypopathy to severe multiorgan involvement.	cdg	67-70	dolichol kinase	Homo sapiens	23-27
28915903-0	2017	A quantitative assessment of the evolution of cerebellar syndrome in children with phosphomannomutase-deficiency (PMM2-CDG).	cdg	119-122	phosphomannomutase 2	Homo sapiens	114-118
28816422-3	2017	Biallelic mutations in DOLK, the gene for DK, result in human in a CDG with variable symptoms, ranging from nonsyndromic dilated cardiomypopathy to severe multiorgan involvement.	cdg	67-70	dolichol kinase	Homo sapiens	42-44
28463089-4	2017	Using liquid chromatography tandem mass spectrometry (LC-MS/MS), we measured the levels of diastereomeric cdA"s and cdG"s in estrogen receptor-alpha positive (ER-alpha) MCF-7 and triple negative MDA-MB-231 breast cancer cell lines before and after exposure to two different conditions: ionising radiations and hydrogen peroxide, followed by an interval period to allow DNA repair.	cdg	116-119	estrogen receptor 1	Homo sapiens	159-167
28457853-5	2017	When separated using 2-DE, haptoglobin beta glycoforms showed clear abnormalities in all interpretable CDG type I and CDG type II patterns.	cdg	103-106	haptoglobin	Homo sapiens	27-38
28457853-5	2017	When separated using 2-DE, haptoglobin beta glycoforms showed clear abnormalities in all interpretable CDG type I and CDG type II patterns.	cdg	118-121	haptoglobin	Homo sapiens	27-38
29492447-3	2017	Phosphomannomutase-2 (PMM2)-CDG is the most common type of CDG.	cdg	28-31	phosphomannomutase 2	Homo sapiens	0-20
27966828-10	2017	Changes in blood serum PGS and IGF-I concentrations during prepubertal and pubertal periods could aid in the evaluation of reproductive status and determination of the onset of puberty in CDG during all seasons of the year in a moderate climate region.	cdg	188-191	insulin-like growth factor I	Capra hircus	31-36
29492447-3	2017	Phosphomannomutase-2 (PMM2)-CDG is the most common type of CDG.	cdg	28-31	phosphomannomutase 2	Homo sapiens	22-26
29492447-9	2017	Gene analysis revealed a compound heterozygous mutation in the gene encoding PMM2 and the patient was diagnosed as having PMM2-CDG.	cdg	127-130	phosphomannomutase 2	Homo sapiens	77-81
29492447-9	2017	Gene analysis revealed a compound heterozygous mutation in the gene encoding PMM2 and the patient was diagnosed as having PMM2-CDG.	cdg	127-130	phosphomannomutase 2	Homo sapiens	122-126
27415628-16	2016	The present work improves our understanding of the immunological functions in PMM2-CDG and possibly in other CDG-I types.	cdg	83-86	phosphomannomutase 2	Homo sapiens	78-82
27287710-12	2016	DISCUSSION: ALG6-CDG has been now described in 89 patients, making it the second most common type of CDG.	cdg	17-20	ALG6 alpha-1,3-glucosyltransferase	Homo sapiens	12-16
27343064-8	2016	The patient also harboured the homozygous ALG6(F304S) variant, which does not cause CDG but has been reported to be more frequent in PMM2-CDG patients with severe/fatal disease than in those with moderate presentations.	cdg	138-141	phosphomannomutase 2	Homo sapiens	133-137
26014514-1	2015	Congenital disorder of glycosylation type Ia (PMM2-CDG), the most common form of CDG, is caused by mutations in the PMM2 gene that reduce phosphomannomutase 2 (PMM2) activity.	cdg	51-54	phosphomannomutase 2	Homo sapiens	46-50
26453364-1	2016	ALG9-CDG is one of the less frequently reported types of CDG.	cdg	5-8	ALG9 alpha-1,2-mannosyltransferase	Homo sapiens	0-4
26014514-1	2015	Congenital disorder of glycosylation type Ia (PMM2-CDG), the most common form of CDG, is caused by mutations in the PMM2 gene that reduce phosphomannomutase 2 (PMM2) activity.	cdg	51-54	phosphomannomutase 2	Homo sapiens	116-120
26014514-1	2015	Congenital disorder of glycosylation type Ia (PMM2-CDG), the most common form of CDG, is caused by mutations in the PMM2 gene that reduce phosphomannomutase 2 (PMM2) activity.	cdg	51-54	phosphomannomutase 2	Homo sapiens	138-158
26014514-1	2015	Congenital disorder of glycosylation type Ia (PMM2-CDG), the most common form of CDG, is caused by mutations in the PMM2 gene that reduce phosphomannomutase 2 (PMM2) activity.	cdg	51-54	phosphomannomutase 2	Homo sapiens	116-120
25641685-3	2015	The objective of this study was to evaluate the reliability of MALDI-TOF MS of apoC-III for the detection and characterization of CDG-associated O-glycan defects.	cdg	130-133	apolipoprotein C3	Homo sapiens	79-87
25641685-5	2015	RESULTS: MALDI-TOF of apoC-III allowed to detect various significant O-glycan abnormalities in CDG-patients with emphasis to COG-CDG.	cdg	95-98	apolipoprotein C3	Homo sapiens	22-30
25641685-6	2015	Furthermore, in CDG samples, comparison study between 2DE and MALDI-TOF showed a particular behavior of monosialylated apoC-III in the mass spectrometer that could be related to an abnormal O-glycan structure.	cdg	16-19	apolipoprotein C3	Homo sapiens	119-127
25681648-5	2015	Whole exome sequencing of the patient revealed compound heterozygous mutations of PMM2: c.580C>T (p.Arg194*) and c.713G>C (p.Arg238Pro) which mutations were associated with congenital disorder of glycosylation Ia (CDG-Ia: PMM2-CDG).	cdg	220-223	phosphomannomutase 2	Homo sapiens	82-86
24305089-3	2013	The most common form of CDG, PMM2-CDG, is caused by deficiency in the cytosolic enzyme phosphomannomutase 2 (PMM2).	cdg	24-27	phosphomannomutase 2	Homo sapiens	29-33
24307739-1	2014	The bacterial second messenger (3"-5")-cyclic-di-guanosine-monophosphate (CDG) is a promising mucosal adjuvant candidate that activates balanced Th1/Th2/Th17 responses.	cdg	74-77	negative elongation factor complex member C/D, Th1l	Mus musculus	145-148
24307739-1	2014	The bacterial second messenger (3"-5")-cyclic-di-guanosine-monophosphate (CDG) is a promising mucosal adjuvant candidate that activates balanced Th1/Th2/Th17 responses.	cdg	74-77	heart and neural crest derivatives expressed 2	Mus musculus	149-152
24307739-7	2014	Instead, we found that CDG activates STING-dependent, IFN-I-independent TNF-alpha production in vivo and in vitro.	cdg	23-26	tumor necrosis factor	Mus musculus	72-81
24307739-8	2014	Furthermore, using a TNFR1(-/-) mouse, we demonstrate that TNF-alpha signaling is critical for CDG-induced Ag-specific Ab and Th1/Th2 cytokine production.	cdg	95-98	tumor necrosis factor receptor superfamily, member 1a	Mus musculus	21-26
24307739-8	2014	Furthermore, using a TNFR1(-/-) mouse, we demonstrate that TNF-alpha signaling is critical for CDG-induced Ag-specific Ab and Th1/Th2 cytokine production.	cdg	95-98	tumor necrosis factor	Mus musculus	59-68
24307739-8	2014	Furthermore, using a TNFR1(-/-) mouse, we demonstrate that TNF-alpha signaling is critical for CDG-induced Ag-specific Ab and Th1/Th2 cytokine production.	cdg	95-98	negative elongation factor complex member C/D, Th1l	Mus musculus	126-129
24307739-8	2014	Furthermore, using a TNFR1(-/-) mouse, we demonstrate that TNF-alpha signaling is critical for CDG-induced Ag-specific Ab and Th1/Th2 cytokine production.	cdg	95-98	heart and neural crest derivatives expressed 2	Mus musculus	130-133
24307739-10	2014	Finally, we found that CDG activates STING-dependent, but IRF3 stimulation-independent, NF-kappaB signaling.	cdg	23-26	interferon regulatory factor 3	Mus musculus	58-62
24307739-11	2014	Our results established an essential role for STING-mediated TNF-alpha production in the mucosal adjuvant activity of CDG in vivo and revealed a novel IFN-I stimulation-independent STING-NF-kappaB-TNF-alpha pathway.	cdg	118-121	tumor necrosis factor	Mus musculus	61-70
24307739-11	2014	Our results established an essential role for STING-mediated TNF-alpha production in the mucosal adjuvant activity of CDG in vivo and revealed a novel IFN-I stimulation-independent STING-NF-kappaB-TNF-alpha pathway.	cdg	118-121	tumor necrosis factor	Mus musculus	197-206
25019053-2	2014	In ALG12-CDG, the enzyme affected is encoded by the ALG12 gene.	cdg	9-12	ALG12 alpha-1,6-mannosyltransferase	Homo sapiens	3-8
25019053-2	2014	In ALG12-CDG, the enzyme affected is encoded by the ALG12 gene.	cdg	9-12	ALG12 alpha-1,6-mannosyltransferase	Homo sapiens	52-57
25305627-7	2015	CONCLUSION: Transferrin variants are pitfalls in the diagnostics of CDG.	cdg	68-71	transferrin	Homo sapiens	12-23
25497157-1	2014	PMM2-CDG (formerly known as CDG Ia) a deficiency in phosphomannomutase, is the most frequent congenital disorder of glycosylation.	cdg	5-8	phosphomannomutase 2	Homo sapiens	0-4
24716661-1	2014	Genetic defects in MOGS, the gene encoding mannosyl-oligosaccharide glucosidase (the first enzyme in the processing pathway of N-linked oligosaccharide), cause the rare congenital disorder of glycosylation type IIb (CDG-IIb), also known as MOGS-CDG.	cdg	216-219	mannosyl-oligosaccharide glucosidase	Homo sapiens	19-23
24716661-1	2014	Genetic defects in MOGS, the gene encoding mannosyl-oligosaccharide glucosidase (the first enzyme in the processing pathway of N-linked oligosaccharide), cause the rare congenital disorder of glycosylation type IIb (CDG-IIb), also known as MOGS-CDG.	cdg	216-219	mannosyl-oligosaccharide glucosidase	Homo sapiens	43-79
24474243-4	2014	We found that glycosylation-deficient patient fibroblasts have less intercellular adhesion molecule-1 (ICAM-1), and because of its role in innate immune response, we hypothesized that its reduction might help explain recurrent infections in CDG patients.	cdg	241-244	intercellular adhesion molecule 1	Homo sapiens	68-101
24474243-4	2014	We found that glycosylation-deficient patient fibroblasts have less intercellular adhesion molecule-1 (ICAM-1), and because of its role in innate immune response, we hypothesized that its reduction might help explain recurrent infections in CDG patients.	cdg	241-244	intercellular adhesion molecule 1	Homo sapiens	103-109
24433453-0	2014	Adult phenotype and further phenotypic variability in SRD5A3-CDG.	cdg	61-64	steroid 5 alpha-reductase 3	Homo sapiens	54-60
24433453-1	2014	BACKGROUND: SRD5A3 is responsible for SRD5A3-CDG, a type of congenital disorder of glycosylation, and mutations have been reported in 15 children.	cdg	45-48	steroid 5 alpha-reductase 3	Homo sapiens	12-18
24433453-1	2014	BACKGROUND: SRD5A3 is responsible for SRD5A3-CDG, a type of congenital disorder of glycosylation, and mutations have been reported in 15 children.	cdg	45-48	steroid 5 alpha-reductase 3	Homo sapiens	38-44
24433453-7	2014	CONCLUSION: Our patients are older, with later onset and milder clinical phenotypes than all patients with SRD5A3-CDG reported so far.	cdg	114-117	steroid 5 alpha-reductase 3	Homo sapiens	107-113
24433453-9	2014	Our findings widen the spectrum of phenotypes resulting from SRD5A3 mutations and the clinical variability of SRD5A3-CDG, and suggest screening for SRD5A3 mutations in new patients with at least a few of the clinical symptoms of SRD5A3-CDG.	cdg	117-120	steroid 5 alpha-reductase 3	Homo sapiens	110-116
24433453-9	2014	Our findings widen the spectrum of phenotypes resulting from SRD5A3 mutations and the clinical variability of SRD5A3-CDG, and suggest screening for SRD5A3 mutations in new patients with at least a few of the clinical symptoms of SRD5A3-CDG.	cdg	117-120	steroid 5 alpha-reductase 3	Homo sapiens	110-116
24433453-9	2014	Our findings widen the spectrum of phenotypes resulting from SRD5A3 mutations and the clinical variability of SRD5A3-CDG, and suggest screening for SRD5A3 mutations in new patients with at least a few of the clinical symptoms of SRD5A3-CDG.	cdg	117-120	steroid 5 alpha-reductase 3	Homo sapiens	110-116
24305089-3	2013	The most common form of CDG, PMM2-CDG, is caused by deficiency in the cytosolic enzyme phosphomannomutase 2 (PMM2).	cdg	24-27	phosphomannomutase 2	Homo sapiens	87-107
24305089-3	2013	The most common form of CDG, PMM2-CDG, is caused by deficiency in the cytosolic enzyme phosphomannomutase 2 (PMM2).	cdg	24-27	phosphomannomutase 2	Homo sapiens	109-113
24139637-14	2013	This study also confirms less severe hypoglycosylation defects in older PMM2-CDG patients.	cdg	77-80	phosphomannomutase 2	Homo sapiens	72-76
24144945-3	2013	Human DOLK deficiency, also known as DOLK-CDG or CDG-Im, results in a syndrome that has been reported to manifest with dilated cardiomyopathy of variable severity.	cdg	42-45	dolichol kinase	Homo sapiens	6-10
24144945-3	2013	Human DOLK deficiency, also known as DOLK-CDG or CDG-Im, results in a syndrome that has been reported to manifest with dilated cardiomyopathy of variable severity.	cdg	42-45	dolichol kinase	Homo sapiens	37-41
24689233-13	2013	The decreased levels of RAF-1, EGFR, AKT, CDK4 and HER-2 showed that CDG possessed HSP90 inhibitory effect.	cdg	69-72	Raf-1 proto-oncogene, serine/threonine kinase	Homo sapiens	24-29
24689233-13	2013	The decreased levels of RAF-1, EGFR, AKT, CDK4 and HER-2 showed that CDG possessed HSP90 inhibitory effect.	cdg	69-72	epidermal growth factor receptor	Homo sapiens	31-35
24689233-13	2013	The decreased levels of RAF-1, EGFR, AKT, CDK4 and HER-2 showed that CDG possessed HSP90 inhibitory effect.	cdg	69-72	AKT serine/threonine kinase 1	Homo sapiens	37-40
24689233-13	2013	The decreased levels of RAF-1, EGFR, AKT, CDK4 and HER-2 showed that CDG possessed HSP90 inhibitory effect.	cdg	69-72	cyclin dependent kinase 4	Homo sapiens	42-46
24689233-13	2013	The decreased levels of RAF-1, EGFR, AKT, CDK4 and HER-2 showed that CDG possessed HSP90 inhibitory effect.	cdg	69-72	erb-b2 receptor tyrosine kinase 2	Homo sapiens	51-56
24689233-13	2013	The decreased levels of RAF-1, EGFR, AKT, CDK4 and HER-2 showed that CDG possessed HSP90 inhibitory effect.	cdg	69-72	heat shock protein 90 alpha family class A member 1	Homo sapiens	83-88
22327749-6	2013	Two children died unexpectedly with acute symptoms of heart failure before the diagnosis of DK1-CDG and heart transplantation could take place.	cdg	96-99	immunoglobulin heavy diversity 5-12	Homo sapiens	92-95
22327749-13	2013	Our paper is the first comprehensive study on the phenotype of DK1-CDG and the first successful organ transplantation in CDG syndrome.	cdg	67-70	immunoglobulin heavy diversity 5-12	Homo sapiens	63-66
23038983-2	2012	Mutations in the human ALG3 gene cause changed levels and altered glycan structures on mature glycoproteins and are the cause of a severe congenital disorder of glycosylation (CDG-Id).	cdg	176-179	ALG3 alpha-1,3- mannosyltransferase	Homo sapiens	23-27
23430515-1	2013	ALG6-CDG (formerly named CDG-Ic) (phenotype OMIM 603147, genotype OMIM 604566), is caused by defective endoplasmic reticulum alpha-1,3-glucosyltransferase (E.C 2.4.1.267) in the N-glycan assembly pathway (Grunewald et al.	cdg	5-8	ALG6 alpha-1,3-glucosyltransferase	Homo sapiens	0-4
19494034-10	2009	According to the current CDG nomenclature, this newly identified deficiency is designated CDG-IIj.	cdg	25-28	component of oligomeric golgi complex 4	Homo sapiens	90-97
23430838-2	2011	Sixty-six patients from 58 unrelated families were diagnosed as PMM2-CDG (CDG-Ia) based on clinical signs or because of a previous affected sibling.	cdg	69-72	phosphomannomutase 2	Homo sapiens	64-68
20637498-2	2010	We describe a new type of CDG caused by mutations in the steroid 5alpha-reductase type 3 (SRD5A3) gene.	cdg	26-29	steroid 5 alpha-reductase 3	Homo sapiens	90-96
22306853-0	2012	Severe ALG8-CDG (CDG-Ih) associated with homozygosity for two novel missense mutations detected by exome sequencing of candidate genes.	cdg	12-15	ALG8 alpha-1,3-glucosyltransferase	Homo sapiens	7-11
21868002-1	2011	OBJECTIVE: To investigate the familial segregation, role, and function of a novel SRY missense mutation c.347T>C in two half-sisters affected by 46,XY complete gonadal dysgenesis (CDG) compatible with a successful pregnancy outcome.	cdg	183-186	sex determining region Y	Homo sapiens	82-85
21189028-2	2011	Flexible LEC devices based on chemically derived graphene (CDG) as the cathode and poly(3,4-ethylenedioxythiophene) mixed with poly(styrenesulfonate) as the anode exhibit a low turn-on voltage for yellow light emission (V = 2.8 V) and a good efficiency 2.4 (4.0) cd/A at a brightness of 100 (50) cd/m(2).	cdg	59-62	C-C motif chemokine ligand 16	Homo sapiens	9-12
21189028-3	2011	We also find that CDG is electrochemically inert over a wide potential range (+1.2 to -2.8 V vs ferrocene/ferrocenium) and exploit this property to demonstrate planar LEC devices with CDG as both the anode and the cathode.	cdg	18-21	C-C motif chemokine ligand 16	Homo sapiens	167-170
21189028-3	2011	We also find that CDG is electrochemically inert over a wide potential range (+1.2 to -2.8 V vs ferrocene/ferrocenium) and exploit this property to demonstrate planar LEC devices with CDG as both the anode and the cathode.	cdg	184-187	C-C motif chemokine ligand 16	Homo sapiens	167-170
21437994-1	2011	Congenital disorder of glycosylation type Ic (CDG-Ic) is caused by mutations in hALG6 gene encoding alpha-1,3 glucosyltransferase (NP_037471.2), an enzyme that catalyzes the addition of the first glucose residue to the growing lipid-linked oligosaccharide precursor in N-glycosylation process.	cdg	46-49	ALG6 alpha-1,3-glucosyltransferase	Homo sapiens	80-85
21437994-2	2011	The most frequent mutation in hALG6 gene causing CDG-Ic is c.998C>T that results in p.A333V substitution.	cdg	49-52	ALG6 alpha-1,3-glucosyltransferase	Homo sapiens	30-35
17220172-9	2007	The Cog8 defect described here represents a novel type of CDG-II, which we propose to name as CDG-IIh or CDG caused by Cog8 deficiency (CDG-II/Cog8).	cdg	58-61	component of oligomeric golgi complex 8	Homo sapiens	4-8
19651599-3	2009	The recent discovery of a form of CDG, caused in part by a COG4 missense mutation changing Arg 729 to Trp, prompted us to determine the 1.9 A crystal structure of a Cog4 C-terminal fragment.	cdg	34-37	component of oligomeric golgi complex 4	Homo sapiens	59-63
19651599-3	2009	The recent discovery of a form of CDG, caused in part by a COG4 missense mutation changing Arg 729 to Trp, prompted us to determine the 1.9 A crystal structure of a Cog4 C-terminal fragment.	cdg	34-37	component of oligomeric golgi complex 4	Homo sapiens	165-169
17904539-3	2008	The study of IGFBP-3 isoforms is relevant for further studies on congenital defects in glycosylation (CDG), galactosemia, and alcoholic liver cirrhosis.	cdg	102-105	insulin like growth factor binding protein 3	Homo sapiens	13-20
17220172-9	2007	The Cog8 defect described here represents a novel type of CDG-II, which we propose to name as CDG-IIh or CDG caused by Cog8 deficiency (CDG-II/Cog8).	cdg	58-61	component of oligomeric golgi complex 8	Homo sapiens	119-123
17220172-9	2007	The Cog8 defect described here represents a novel type of CDG-II, which we propose to name as CDG-IIh or CDG caused by Cog8 deficiency (CDG-II/Cog8).	cdg	58-61	ALG2 alpha-1,3/1,6-mannosyltransferase	Homo sapiens	94-100
17220172-9	2007	The Cog8 defect described here represents a novel type of CDG-II, which we propose to name as CDG-IIh or CDG caused by Cog8 deficiency (CDG-II/Cog8).	cdg	58-61	component of oligomeric golgi complex 8	Homo sapiens	119-123
16079417-5	2005	To replenish intracellular Man-1-P pools in CDG-Ia cells, we synthesized two hydrophobic, membrane permeable acylated versions of Man-1-P and determined their ability to normalize LLO size and N-glycosylation in CDG-Ia fibroblasts.	cdg	212-215	LEM domain containing 3	Homo sapiens	130-135
16552784-4	2006	Abnormal patterns of immunocaptured transferrin were detected in patients with known defects in glycosylation (CDG-Ia, CDG-Ib, CDG-Ic, CDG-If and CDG-Ih) and in patients in whom the basic defect has not yet been identified (CDG-Ix).	cdg	111-114	transferrin	Homo sapiens	36-47
16552784-4	2006	Abnormal patterns of immunocaptured transferrin were detected in patients with known defects in glycosylation (CDG-Ia, CDG-Ib, CDG-Ic, CDG-If and CDG-Ih) and in patients in whom the basic defect has not yet been identified (CDG-Ix).	cdg	119-122	transferrin	Homo sapiens	36-47
16552784-4	2006	Abnormal patterns of immunocaptured transferrin were detected in patients with known defects in glycosylation (CDG-Ia, CDG-Ib, CDG-Ic, CDG-If and CDG-Ih) and in patients in whom the basic defect has not yet been identified (CDG-Ix).	cdg	119-122	transferrin	Homo sapiens	36-47
16552784-4	2006	Abnormal patterns of immunocaptured transferrin were detected in patients with known defects in glycosylation (CDG-Ia, CDG-Ib, CDG-Ic, CDG-If and CDG-Ih) and in patients in whom the basic defect has not yet been identified (CDG-Ix).	cdg	119-122	transferrin	Homo sapiens	36-47
17307006-0	2007	Characterization of two unusual truncating PMM2 mutations in two CDG-Ia patients.	cdg	65-68	phosphomannomutase 2	Homo sapiens	43-47
17105569-12	2006	The results confirm the hypothesis of using CDG as an SCC marker.	cdg	44-47	SCC	Bos taurus	54-57
16079417-12	2005	These results validate the general concept of using pro-Man-1-P substrates as potential therapeutics for CDG-I patients.	cdg	105-108	LEM domain containing 3	Homo sapiens	56-61
12217961-7	2002	Analysis of the ALG12 cDNA in the CDG patient revealed compound heterozygosity for two point mutations that resulted in the amino acid substitutions T67M and R146Q, respectively.	cdg	34-37	ALG12 alpha-1,6-mannosyltransferase	Homo sapiens	16-21
15639192-2	2005	Both patients presented with symptoms indicating CDG, including developmental delay, hypotonia and failure to thrive, and tested positive for deficient glycosylation of transferrin.	cdg	49-52	transferrin	Homo sapiens	169-180
16053906-0	2005	CDG-Id caused by homozygosity for an ALG3 mutation due to segmental maternal isodisomy UPD3(q21.3-qter).	cdg	0-3	ALG3 alpha-1,3- mannosyltransferase	Homo sapiens	37-41
15108280-0	2004	An activated 5" cryptic splice site in the human ALG3 gene generates a premature termination codon insensitive to nonsense-mediated mRNA decay in a new case of congenital disorder of glycosylation type Id (CDG-Id).	cdg	206-209	ALG3 alpha-1,3- mannosyltransferase	Homo sapiens	49-53
15108280-1	2004	A defect of the dolichyl-P-Man:Man5GlcNAc2-PP-dolichyl mannosyltransferase encoded by the ALG3 gene (alias NOT56L) causes congenital disorder of glycosylation type Id (CDG-Id).	cdg	168-171	ALG3 alpha-1,3- mannosyltransferase	Homo sapiens	90-94
15108280-1	2004	A defect of the dolichyl-P-Man:Man5GlcNAc2-PP-dolichyl mannosyltransferase encoded by the ALG3 gene (alias NOT56L) causes congenital disorder of glycosylation type Id (CDG-Id).	cdg	168-171	ALG3 alpha-1,3- mannosyltransferase	Homo sapiens	107-113
12872255-2	2003	We have identified a novel CDG type, CDG-Ij, resulting from deficiency in UDP-GlcNAc: dolichol phosphate N-acetyl-glucosamine-1 phosphate transferase (GPT) activity encoded by DPAGT1.	cdg	27-30	dolichyl-phosphate N-acetylglucosaminephosphotransferase 1	Homo sapiens	37-43
12872255-2	2003	We have identified a novel CDG type, CDG-Ij, resulting from deficiency in UDP-GlcNAc: dolichol phosphate N-acetyl-glucosamine-1 phosphate transferase (GPT) activity encoded by DPAGT1.	cdg	27-30	dolichyl-phosphate N-acetylglucosaminephosphotransferase 1	Homo sapiens	105-149
12872255-2	2003	We have identified a novel CDG type, CDG-Ij, resulting from deficiency in UDP-GlcNAc: dolichol phosphate N-acetyl-glucosamine-1 phosphate transferase (GPT) activity encoded by DPAGT1.	cdg	27-30	dolichyl-phosphate N-acetylglucosaminephosphotransferase 1	Homo sapiens	151-154
12872255-2	2003	We have identified a novel CDG type, CDG-Ij, resulting from deficiency in UDP-GlcNAc: dolichol phosphate N-acetyl-glucosamine-1 phosphate transferase (GPT) activity encoded by DPAGT1.	cdg	27-30	dolichyl-phosphate N-acetylglucosaminephosphotransferase 1	Homo sapiens	176-182
12872255-9	2003	Thus, we conclude that the DPAGT1 gene defects are responsible for the CDG symptoms in this patient.	cdg	71-74	dolichyl-phosphate N-acetylglucosaminephosphotransferase 1	Homo sapiens	27-33
11156536-9	2001	Our results indicate that intermediate PMM values in fibroblasts may mask the diagnosis of CDG-Ia, which is better accomplished by measurement of PMM activity in leukocytes and mutation search in the PMM2 gene.	cdg	91-94	phosphomannomutase 2	Homo sapiens	200-204
11003241-11	2000	Milk yield and composition when cows were fed CDG were not further improved by feeding blends of protein sources or RPLM; however, such dietary changes improved Lys and Met status of the cows.	cdg	46-49	Weaning weight-maternal milk	Bos taurus	0-4
11680873-6	2001	A possible molecular mechanism of hypo- and unglycosylation of band 3 and glycophorin A, respectively, in CDG is discussed.	cdg	106-109	glycophorin A (MNS blood group)	Homo sapiens	74-87
11058896-2	2000	CDG IA is caused by mutations in the PMM2 gene located in chromosome region 16p13.	cdg	0-3	phosphomannomutase 2	Homo sapiens	37-41
34652821-9	2021	Sorbitol levels were increased in the urine of 74% of PMM2-CDG patients and correlated with the presence of peripheral neuropathy, and CDG severity rating scale.	cdg	135-138	phosphomannomutase 2	Homo sapiens	54-58
10642597-0	2000	Dolichol phosphate mannose synthase (DPM1) mutations define congenital disorder of glycosylation Ie (CDG-Ie) Congenital disorders of glycosylation (CDGs) are metabolic deficiencies in glycoprotein biosynthesis that usually cause severe mental and psychomotor retardation.	cdg	101-104	dolichyl-phosphate mannosyltransferase subunit 1, catalytic	Homo sapiens	37-41
10642597-9	2000	Defects in DPM1 define a new glycosylation disorder, CDG-Ie.	cdg	53-56	dolichyl-phosphate mannosyltransferase subunit 1, catalytic	Homo sapiens	11-15
1543175-6	1992	Mean creatinine-height index, retinol binding protein, serum iron, and transferrin saturation values were lower among young CDG patients.	cdg	124-127	transferrin	Homo sapiens	71-82
19451548-0	2009	Quality control of glycoproteins bearing truncated glycans in an ALG9-defective (CDG-IL) patient.	cdg	81-84	ALG9 alpha-1,2-mannosyltransferase	Homo sapiens	65-69
34652821-0	2021	Sorbitol is a severity biomarker for PMM2-CDG with therapeutic implications.	cdg	42-45	phosphomannomutase 2	Homo sapiens	37-41
10852543-5	2000	The isoelectric focusing pattern of serum transferrin in CDG-Ia and CDG-Ic is indistinguishable.	cdg	57-60	transferrin	Homo sapiens	42-53
10852543-5	2000	The isoelectric focusing pattern of serum transferrin in CDG-Ia and CDG-Ic is indistinguishable.	cdg	68-71	transferrin	Homo sapiens	42-53
10854097-0	2000	Lack of Hardy-Weinberg equilibrium for the most prevalent PMM2 mutation in CDG-Ia (congenital disorders of glycosylation type Ia).	cdg	75-78	phosphomannomutase 2	Homo sapiens	58-62
9760999-3	1998	Both beta-hexosaminidase and alpha-fucosidase activities were increased in sera from three CDG patients.	cdg	91-94	O-GlcNAcase	Homo sapiens	5-24
9593124-4	1998	Both enantiomers of CdG were substrates for deoxycytidine kinase (EC 2.7.1.74) from MOLT-4 cells, 5"-nucleotidase (EC 3.1.3.5) from HEp-2 cells, and mitochondrial deoxyguanosine kinase (EC 2.7.1.113) from human platelets and CEM cells.	cdg	20-23	deoxycytidine kinase	Homo sapiens	44-64
9593124-4	1998	Both enantiomers of CdG were substrates for deoxycytidine kinase (EC 2.7.1.74) from MOLT-4 cells, 5"-nucleotidase (EC 3.1.3.5) from HEp-2 cells, and mitochondrial deoxyguanosine kinase (EC 2.7.1.113) from human platelets and CEM cells.	cdg	20-23	5'-nucleotidase ecto	Homo sapiens	98-113
8530628-6	1995	TBG in patients with CDG had immunoreactivity indistinguishable from that of normal TBG and had normal affinity for T4, T3, and rT3.	cdg	21-24	serpin family A member 7	Homo sapiens	0-3
8530628-11	1995	It is concluded that IEF of TBG is a rapid and simple method for the diagnosis of CDG type I and that the abnormal pattern can be detected as early as 5 days postpartum.	cdg	82-85	serpin family A member 7	Homo sapiens	28-31
8530628-12	1995	Patients with CDG are chemically euthyroid, and it is postulated that the reduction in serum iodothyronine concentrations beyond that explained on the basis of low TBG levels may be due to the interference with binding to TBG by an unidentified substance.	cdg	14-17	serpin family A member 7	Homo sapiens	222-225
33808759-7	2021	CDG treatment inhibited NO production through the downregulation of inducible nitric oxide synthase expression in lipopolysaccharide (LPS)-stimulated ImKCs.	cdg	0-3	nitric oxide synthase 2, inducible	Mus musculus	68-99
33808759-8	2021	The anti-inflammatory effects of CDG were mediated via the inhibition of nuclear factor kappa-light-chain-enhancer of activated B cells (NF-kappaB) activation, an important inflammatory-response-associated signaling pathway.	cdg	33-36	nuclear factor of kappa light polypeptide gene enhancer in B cells 1, p105	Mus musculus	137-146
33808759-9	2021	Moreover, CDG treatment has regulated the expression of pro-inflammatory cytokines, such as IL-6 and IL-1beta.	cdg	10-13	interleukin 6	Mus musculus	92-96
33808759-9	2021	Moreover, CDG treatment has regulated the expression of pro-inflammatory cytokines, such as IL-6 and IL-1beta.	cdg	10-13	interleukin 1 alpha	Mus musculus	101-109
34682117-0	2021	Anthropometric Phenotype of Patients with PMM2-CDG.	cdg	47-50	phosphomannomutase 2	Homo sapiens	42-46
34925443-8	2021	Results: Key diagnostic features of SRD5A3-CDG are ophthalmological abnormalities with early-onset retinal dystrophy and optic nerve hypoplasia.	cdg	43-46	steroid 5 alpha-reductase 3	Homo sapiens	36-42
34925443-12	2021	Conclusion: The detailed description of the phenotype of this large cohort of patients with SRD5A3-CDG highlights that the key clinical diagnostic features of SRD5A3-CDG are an early onset form of ophthalmological problems in patients with a multisystem disorder with variable symptoms evolving over time.	cdg	99-102	steroid 5 alpha-reductase 3	Homo sapiens	92-98
34925443-12	2021	Conclusion: The detailed description of the phenotype of this large cohort of patients with SRD5A3-CDG highlights that the key clinical diagnostic features of SRD5A3-CDG are an early onset form of ophthalmological problems in patients with a multisystem disorder with variable symptoms evolving over time.	cdg	99-102	steroid 5 alpha-reductase 3	Homo sapiens	159-165
35584671-5	2022	Single-unit recordings from freely moving mice reveal that optogenetic stimulation of SOM+ cDG projections modulates the activity of GABAergic neurons and principal neurons over multiple timescales.	cdg	91-94	somatostatin	Mus musculus	86-89
34161696-7	2021	CONCLUSIONS: Our findings expand the number of reported cases and add novel variants to the repertoire of SLC35A2-CDG.	cdg	114-117	solute carrier family 35 member A2	Homo sapiens	106-113
34122512-1	2021	SLC35A2-CDG is a rare type of X-linked CDG with more than 60 reported cases.	cdg	39-42	solute carrier family 35 member A2	Homo sapiens	0-7
35584671-6	2022	Importantly, we demonstrate that optogenetic silencing of SOM+ cDG projections during spatial memory encoding, but not during memory retrieval, results in compromised DG-dependent memory.	cdg	63-66	somatostatin	Mus musculus	58-61
35308014-9	2022	Results: Nine patients with PMM2-CDG were included, and hypoglycemia was present in three cases.	cdg	33-36	phosphomannomutase 2	Homo sapiens	28-32
35235741-0	2022	The influence of cdG on 8-oxodG excision by OGG1 and FPG glycosylases.	cdg	17-20	8-oxoguanine DNA glycosylase	Homo sapiens	44-48
35281664-1	2022	We report two patients with PMM2-CDG who developed end stage renal disease (ESRD).	cdg	33-36	phosphomannomutase 2	Homo sapiens	28-32