CDG2A
MCID: CNG191
MIFTS: 49

Congenital Disorder of Glycosylation, Type Iia (CDG2A)

Categories: Blood diseases, Bone diseases, Cardiovascular diseases, Ear diseases, Endocrine diseases, Eye diseases, Fetal diseases, Gastrointestinal diseases, Genetic diseases, Immune diseases, Liver diseases, Mental diseases, Metabolic diseases, Muscle diseases, Nephrological diseases, Neuronal diseases, Rare diseases, Skin diseases

Aliases & Classifications for Congenital Disorder of Glycosylation, Type Iia

MalaCards integrated aliases for Congenital Disorder of Glycosylation, Type Iia:

Name: Congenital Disorder of Glycosylation, Type Iia 58 12 13
Congenital Disorder of Glycosylation Type Iia 12 60 76 15
Cdg2a 58 12 60 76
Carbohydrate-Deficient Glycoprotein Syndrome Type Ii 76 30 6
Cdg Iia 58 12 76
Cdgiia 58 12 76
Mental Retardation, Growth Retardation, Prominent Columella, and Open Mouth 58 12
Carbohydrate-Deficient Glycoprotein Syndrome, Type Ii 12 56
Congenital Disorder of Glycosylation Type 2a 60 74
Alkuraya Syndrome 58 12
Cdg-Iia 60 76
Carbohydrate-Deficient Glycoprotein Syndrome, Type Ii, Formerly; Cdgs2, Formerly 58
Carbohydrate-Deficient Glycoprotein Syndrome, Type Ii, Formerly 58
Carbohydrate Deficient Glycoprotein Syndrome Type Iia 60
Glycosylation, Congenital Disorder of, Type Iia 41
N-Acetylglucosaminyltransferase 2 Deficiency 60
Congenital Disorder of Glycosylation 2a 76
Cdg Syndrome Type Iia 60
Cdg Iia; Cdgiia 58
Cdgs2, Formerly 58
Cdgs Type Ii 76
Mgat2-Cdg 60
Cdgs2 12

Characteristics:

Orphanet epidemiological data:

60
mgat2-cdg
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
four individual patients and 1 saudi family have been reported (as of february 2012)


HPO:

33
congenital disorder of glycosylation, type iia:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Congenital Disorder of Glycosylation, Type Iia

OMIM : 58 Congenital disorders of glycosylation (CDGs) are a genetically heterogeneous group of autosomal recessive disorders caused by enzymatic defects in the synthesis and processing of asparagine (N)-linked glycans or oligosaccharides on glycoproteins. These glycoconjugates play critical roles in metabolism, cell recognition and adhesion, cell migration, protease resistance, host defense, and antigenicity, among others. CDGs are divided into 2 main groups: type I CDGs (see, e.g., CDG1A, 212065) comprise defects in the assembly of the dolichol lipid-linked oligosaccharide (LLO) chain and its transfer to the nascent protein, whereas type II CDGs refer to defects in the trimming and processing of the protein-bound glycans either late in the endoplasmic reticulum or the Golgi compartments. The biochemical changes of CDGs are most readily observed in serum transferrin (TF; 190000), and the diagnosis is usually made by isoelectric focusing of this glycoprotein (reviews by Marquardt and Denecke, 2003; Grunewald et al., 2002). (212066)

MalaCards based summary : Congenital Disorder of Glycosylation, Type Iia, also known as congenital disorder of glycosylation type iia, is related to congenital disorder of glycosylation, type ii and congenital disorder of glycosylation, type iik, and has symptoms including seizures An important gene associated with Congenital Disorder of Glycosylation, Type Iia is MGAT2 (Mannosyl (Alpha-1,6-)-Glycoprotein Beta-1,2-N-Acetylglucosaminyltransferase), and among its related pathways/superpathways are Metabolism of proteins and Transport to the Golgi and subsequent modification. Affiliated tissues include bone, tongue and brain, and related phenotypes are intellectual disability, severe and intellectual disability, progressive

Disease Ontology : 12 A congenital disorder of glycosylation type II that has material basis in an autosomal recessive mutation of MGAT2 on chromosome 14q21.3.

UniProtKB/Swiss-Prot : 76 Congenital disorder of glycosylation 2A: A multisystem disorder caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions.

Related Diseases for Congenital Disorder of Glycosylation, Type Iia

Diseases in the Congenital Disorder of Glycosylation, Type Ii family:

Congenital Disorder of Glycosylation, Type Ia Congenital Disorder of Glycosylation, Type Iia
Congenital Disorder of Glycosylation, Type I/iix Congenital Disorder of Glycosylation, Type Iic
Congenital Disorder of Glycosylation, Type Iim Congenital Disorder of Glycosylation, Type Iy
Congenital Disorder of Glycosylation, Type Id Congenital Disorder of Glycosylation, Type Ib
Congenital Disorder of Glycosylation, Type Ic Congenital Disorder of Glycosylation, Type Iif
Congenital Disorder of Glycosylation, Type Iib Congenital Disorder of Glycosylation, Type Iid
Congenital Disorder of Glycosylation, Type Ig Congenital Disorder of Glycosylation, Type Ij
Congenital Disorder of Glycosylation, Type Ih Congenital Disorder of Glycosylation, Type Ik
Congenital Disorder of Glycosylation, Type Il Congenital Disorder of Glycosylation, Type Ie
Congenital Disorder of Glycosylation, Type if Congenital Disorder of Glycosylation, Type Im
Congenital Disorder of Glycosylation, Type Iih Congenital Disorder of Glycosylation, Type Iig
Congenital Disorder of Glycosylation, Type in Congenital Disorder of Glycosylation, Type Iq
Congenital Disorder of Glycosylation, Type Iij Congenital Disorder of Glycosylation, Type Iii
Congenital Disorder of Glycosylation, Type Ip Congenital Disorder of Glycosylation, Type Ir
Congenital Disorder of Glycosylation, Type Iil Congenital Disorder of Glycosylation, Type Iik
Congenital Disorder of Glycosylation, Type It Congenital Disorder of Glycosylation, Type Iu
Congenital Disorder of Glycosylation, Type Iw Congenital Disorder of Glycosylation, Type Ix
Congenital Disorder of Glycosylation, Type Iin Congenital Disorder of Glycosylation, Type Iio
Congenital Disorder of Glycosylation, Type Iip Congenital Disorder of Glycosylation, Type Iiq

Diseases related to Congenital Disorder of Glycosylation, Type Iia via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 30)
# Related Disease Score Top Affiliating Genes
1 congenital disorder of glycosylation, type ii 32.0 ALG2 MGAT2 PMM2 TF
2 congenital disorder of glycosylation, type iik 31.8 PMM2 TF
3 congenital disorder of glycosylation, type ia 31.7 PMM2 TF
4 congenital disorder of glycosylation, type iim 31.6 ALG2 PMM2 TF
5 congenital disorder of glycosylation, type in 29.5 ALG2 MGAT2 MPDU1 MPI PMM2 TF
6 man1b1-cdg 11.6
7 cutis laxa, autosomal recessive, type iia 11.2
8 neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures 11.1
9 congenital disorder of glycosylation, type iic 11.1
10 congenital disorder of glycosylation, type iil 11.1
11 congenital disorder of glycosylation, type iin 11.1
12 congenital disorder of glycosylation, type iip 11.1
13 multiple congenital anomalies-hypotonia-seizures syndrome 3 10.2 PMM2 TF
14 congenital disorder of glycosylation, type iih 10.1 ALG2 TF
15 autosomal recessive disease 10.1
16 epileptic encephalopathy, early infantile, 36 10.0 ALG2 MPI PMM2
17 congenital disorder of glycosylation, type iii 10.0 ALG2 PMM2 TF
18 carbohydrate metabolic disorder 10.0 ALG2 MPI PMM2
19 congenital disorder of glycosylation, type iif 10.0 ALG2 PMM2 TF
20 superficial siderosis of the central nervous system 10.0 LTF TF
21 superficial siderosis 10.0 LTF TF
22 fructose intolerance, hereditary 10.0 ALG2 PMM2 TF
23 haemophilus influenzae 10.0 LTF TF
24 congenital disorder of glycosylation, type iij 10.0
25 radiation proctitis 10.0 LTF TF
26 dysentery 9.9 LTF TF
27 congenital hemolytic anemia 9.9 SEC23B TF
28 congenital disorder of glycosylation, type iid 9.8 ALG2 MPI PMM2 TF
29 congenital disorder of glycosylation, type ie 9.8 DPM1 PMM2
30 uremia 9.7 TF VWF

Graphical network of the top 20 diseases related to Congenital Disorder of Glycosylation, Type Iia:



Diseases related to Congenital Disorder of Glycosylation, Type Iia

Symptoms & Phenotypes for Congenital Disorder of Glycosylation, Type Iia

Human phenotypes related to Congenital Disorder of Glycosylation, Type Iia:

60 33 (show top 50) (show all 53)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability, severe 60 33 hallmark (90%) Very frequent (99-80%) HP:0010864
2 intellectual disability, progressive 60 33 hallmark (90%) Very frequent (99-80%) HP:0006887
3 tall stature 60 33 hallmark (90%) Very frequent (99-80%) HP:0000098
4 sparse hair 33 occasional (7.5%) HP:0008070
5 hirsutism 33 occasional (7.5%) HP:0001007
6 macrocephaly 33 HP:0000256
7 short neck 33 HP:0000470
8 pectus excavatum 33 HP:0000767
9 osteopenia 33 HP:0000938
10 seizures 33 HP:0001250
11 failure to thrive 33 HP:0001508
12 gingival overgrowth 33 HP:0000212
13 macrotia 33 HP:0000400
14 abnormality of the dentition 33 HP:0000164
15 pes planus 33 HP:0001763
16 microcephaly 33 HP:0000252
17 sensorineural hearing impairment 33 HP:0000407
18 thick eyebrow 33 HP:0000574
19 short stature 33 HP:0004322
20 hypertonia 33 HP:0001276
21 stereotypy 33 HP:0000733
22 brachycephaly 33 HP:0000248
23 retrognathia 33 HP:0000278
24 coxa valga 33 HP:0002673
25 everted lower lip vermilion 33 HP:0000232
26 postnatal growth retardation 33 HP:0008897
27 prominent nasal bridge 33 HP:0000426
28 wide mouth 33 HP:0000154
29 aggressive behavior 33 HP:0000718
30 downslanted palpebral fissures 33 HP:0000494
31 open mouth 33 HP:0000194
32 protruding tongue 33 HP:0010808
33 ventricular septal defect 33 HP:0001629
34 thin vermilion border 33 HP:0000233
35 long eyelashes 33 HP:0000527
36 proximal placement of thumb 33 HP:0009623
37 generalized hypotonia 33 HP:0001290
38 slender long bone 33 HP:0003100
39 posteriorly rotated ears 33 HP:0000358
40 unsteady gait 33 HP:0002317
41 macrodontia 33 HP:0001572
42 self-mutilation 33 HP:0000742
43 type ii transferrin isoform profile 33 HP:0012301
44 abnormal isoelectric focusing of serum transferrin 33 HP:0003160
45 reduced antithrombin iii activity 33 HP:0001976
46 thoracolumbar kyphoscoliosis 33 HP:0003423
47 reduced factor xi activity 33 HP:0001929
48 diastema 33 HP:0000699
49 reduced factor ix activity 33 HP:0011858
50 low hanging columella 33 HP:0009765

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Head:
macrocephaly
microcephaly
brachycephaly

Chest External Features:
pectus excavatum

Neurologic Central Nervous System:
seizures
unsteady gait
mental retardation, severe
early hypotonia
later hypertonia

Skeletal Feet:
pes planus
irregular position of the toes

Head And Neck Face:
retrognathia
malar underdevelopment
obtuse lower incisor mandibular plane angle

Head And Neck Nose:
prominent nasal bridge
low hanging columella
hook nose

Cardiovascular Heart:
ventricular septal defect

Skin Nails Hair Hair:
long eyelashes
thick eyebrows
sparse hair (in some patients)
hirsutism (in some patients)

Neurologic Behavioral Psychiatric Manifestations:
self-mutilation
aggression
stereotypic behaviors (hand-washing movements, head-banging)

Head And Neck Teeth:
diastema
large teeth

Skeletal Limbs:
gracile long bones

Hematology:
decreased coagulation factors ix, xi, xii
decreased antithrombin iii
decreased protein s
decreased protein c

Head And Neck Neck:
short neck

Skeletal:
osteopenia

Growth Other:
failure to thrive
postnatal growth retardation

Growth Height:
short stature

Skeletal Pelvis:
coxa valga

Head And Neck Mouth:
open mouth
protruding tongue
large mouth
thin lips
everted lower lip
more
Head And Neck Eyes:
long eyelashes
downslanting palpebral fissures
thick eyebrows

Head And Neck Ears:
posteriorly rotated ears
hearing loss, sensorineural
large dysplastic ears

Skeletal Spine:
thoracolumbar kyphoscoliosis

Skeletal Hands:
proximally placed thumbs
short terminal phalanges

Skin Nails Hair Skin:
midfrontal capillary hemangioma

Laboratory Abnormalities:
abnormal isoelectric focusing of serum transferrin (type 2 pattern)
glcnac-transferase ii deficiency in fibroblast and mononuclear cells

Clinical features from OMIM:

212066

UMLS symptoms related to Congenital Disorder of Glycosylation, Type Iia:


seizures

MGI Mouse Phenotypes related to Congenital Disorder of Glycosylation, Type Iia:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.7 ALG2 LTF MPI PMM2 POMGNT1 SEC23B
2 homeostasis/metabolism MP:0005376 9.56 ALG2 LTF MGAT2 PMM2 POMGNT1 SEC23B
3 mortality/aging MP:0010768 9.28 ALG2 DPM1 MGAT2 MPI PMM2 POMGNT1

Drugs & Therapeutics for Congenital Disorder of Glycosylation, Type Iia

Search Clinical Trials , NIH Clinical Center for Congenital Disorder of Glycosylation, Type Iia

Genetic Tests for Congenital Disorder of Glycosylation, Type Iia

Genetic tests related to Congenital Disorder of Glycosylation, Type Iia:

# Genetic test Affiliating Genes
1 Carbohydrate-Deficient Glycoprotein Syndrome Type Ii 30 MGAT2

Anatomical Context for Congenital Disorder of Glycosylation, Type Iia

MalaCards organs/tissues related to Congenital Disorder of Glycosylation, Type Iia:

42
Bone, Tongue, Brain, Skin, Liver, Eye

Publications for Congenital Disorder of Glycosylation, Type Iia

Articles related to Congenital Disorder of Glycosylation, Type Iia:

# Title Authors Year
1
Congenital disorder of glycosylation IIa: the trouble with diagnosing a dysmorphic inborn error of metabolism. ( 22105986 )
2012
2
Mental retardation, growth retardation, unusual nose, and open mouth: an autosomal recessive entity. ( 20684000 )
2010
3
Mice with a homozygous deletion of the Mgat2 gene encoding UDP-N-acetylglucosamine:alpha-6-D-mannoside beta1,2-N-acetylglucosaminyltransferase II: a model for congenital disorder of glycosylation type IIa. ( 12417412 )
2002
4
Modeling human congenital disorder of glycosylation type IIa in the mouse: conservation of asparagine-linked glycan-dependent functions in mammalian physiology and insights into disease pathogenesis. ( 11805078 )
2001
5
Congenital disorders of glycosylation IIa cause growth retardation, mental retardation, and facial dysmorphism. ( 11228641 )
2000
6
Mutations in the MGAT2 gene controlling complex N-glycan synthesis cause carbohydrate-deficient glycoprotein syndrome type II, an autosomal recessive disease with defective brain development. ( 8808595 )
1996

Variations for Congenital Disorder of Glycosylation, Type Iia

UniProtKB/Swiss-Prot genetic disease variations for Congenital Disorder of Glycosylation, Type Iia:

76
# Symbol AA change Variation ID SNP ID
1 MGAT2 p.His262Arg VAR_003415 rs104894447
2 MGAT2 p.Ser290Phe VAR_003416 rs104894446
3 MGAT2 p.Asn318Asp VAR_012343 rs104894448

ClinVar genetic disease variations for Congenital Disorder of Glycosylation, Type Iia:

6 (show all 30)
# Gene Variation Type Significance SNP ID Assembly Location
1 MGAT2 NM_002408.3(MGAT2): c.869C> T (p.Ser290Phe) single nucleotide variant Pathogenic rs104894446 GRCh37 Chromosome 14, 50088855: 50088855
2 MGAT2 NM_002408.3(MGAT2): c.869C> T (p.Ser290Phe) single nucleotide variant Pathogenic rs104894446 GRCh38 Chromosome 14, 49622137: 49622137
3 MGAT2 NM_002408.3(MGAT2): c.785A> G (p.His262Arg) single nucleotide variant Pathogenic rs104894447 GRCh37 Chromosome 14, 50088771: 50088771
4 MGAT2 NM_002408.3(MGAT2): c.785A> G (p.His262Arg) single nucleotide variant Pathogenic rs104894447 GRCh38 Chromosome 14, 49622053: 49622053
5 MGAT2 NM_002408.3(MGAT2): c.952A> G (p.Asn318Asp) single nucleotide variant Pathogenic rs104894448 GRCh37 Chromosome 14, 50088938: 50088938
6 MGAT2 NM_002408.3(MGAT2): c.952A> G (p.Asn318Asp) single nucleotide variant Pathogenic rs104894448 GRCh38 Chromosome 14, 49622220: 49622220
7 MGAT2 NM_002408.3(MGAT2): c.1017T> A (p.Cys339Ter) single nucleotide variant Pathogenic rs104894449 GRCh37 Chromosome 14, 50089003: 50089003
8 MGAT2 NM_002408.3(MGAT2): c.1017T> A (p.Cys339Ter) single nucleotide variant Pathogenic rs104894449 GRCh38 Chromosome 14, 49622285: 49622285
9 MGAT2 NM_002408.3(MGAT2): c.711G> C (p.Lys237Asn) single nucleotide variant Pathogenic/Likely pathogenic rs730882218 GRCh38 Chromosome 14, 49621979: 49621979
10 MGAT2 NM_002408.3(MGAT2): c.711G> C (p.Lys237Asn) single nucleotide variant Pathogenic/Likely pathogenic rs730882218 GRCh37 Chromosome 14, 50088697: 50088697
11 MGAT2 NM_002408.3(MGAT2): c.733G> C (p.Val245Leu) single nucleotide variant Uncertain significance rs117536357 GRCh37 Chromosome 14, 50088719: 50088719
12 MGAT2 NM_002408.3(MGAT2): c.733G> C (p.Val245Leu) single nucleotide variant Uncertain significance rs117536357 GRCh38 Chromosome 14, 49622001: 49622001
13 DNAAF2; MGAT2 NM_002408.3(MGAT2): c.261G> T (p.Leu87=) single nucleotide variant Benign/Likely benign rs2228449 GRCh37 Chromosome 14, 50088247: 50088247
14 DNAAF2; MGAT2 NM_002408.3(MGAT2): c.261G> T (p.Leu87=) single nucleotide variant Benign/Likely benign rs2228449 GRCh38 Chromosome 14, 49621529: 49621529
15 MGAT2 NM_002408.3(MGAT2): c.768T> G (p.Leu256=) single nucleotide variant Benign rs77872234 GRCh37 Chromosome 14, 50088754: 50088754
16 MGAT2 NM_002408.3(MGAT2): c.768T> G (p.Leu256=) single nucleotide variant Benign rs77872234 GRCh38 Chromosome 14, 49622036: 49622036
17 MGAT2 NM_002408.3(MGAT2): c.688A> C (p.Thr230Pro) single nucleotide variant Uncertain significance rs1555327096 GRCh38 Chromosome 14, 49621956: 49621956
18 MGAT2 NM_002408.3(MGAT2): c.688A> C (p.Thr230Pro) single nucleotide variant Uncertain significance rs1555327096 GRCh37 Chromosome 14, 50088674: 50088674
19 MGAT2 NM_002408.3(MGAT2): c.862G> A (p.Val288Ile) single nucleotide variant Uncertain significance GRCh37 Chromosome 14, 50088848: 50088848
20 MGAT2 NM_002408.3(MGAT2): c.862G> A (p.Val288Ile) single nucleotide variant Uncertain significance GRCh38 Chromosome 14, 49622130: 49622130
21 MGAT2 NM_002408.3(MGAT2): c.232G> A (p.Ala78Thr) single nucleotide variant Uncertain significance GRCh38 Chromosome 14, 49621500: 49621500
22 MGAT2 NM_002408.3(MGAT2): c.232G> A (p.Ala78Thr) single nucleotide variant Uncertain significance GRCh37 Chromosome 14, 50088218: 50088218
23 MGAT2 NM_002408.3(MGAT2): c.1120C> T (p.His374Tyr) single nucleotide variant Pathogenic GRCh38 Chromosome 14, 49622388: 49622388
24 MGAT2 NM_002408.3(MGAT2): c.1120C> T (p.His374Tyr) single nucleotide variant Pathogenic GRCh37 Chromosome 14, 50089106: 50089106
25 MGAT2 NM_002408.3(MGAT2): c.753dup (p.Ala252Cysfs) duplication Pathogenic GRCh38 Chromosome 14, 49622021: 49622021
26 MGAT2 NM_002408.3(MGAT2): c.753dup (p.Ala252Cysfs) duplication Pathogenic GRCh37 Chromosome 14, 50088739: 50088739
27 MGAT2 NM_002408.3(MGAT2): c.91C> T (p.Gln31Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 14, 49621359: 49621359
28 MGAT2 NM_002408.3(MGAT2): c.91C> T (p.Gln31Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 14, 50088077: 50088077
29 MGAT2 NM_002408.3(MGAT2): c.799G> C (p.Asp267His) single nucleotide variant Pathogenic GRCh38 Chromosome 14, 49622067: 49622067
30 MGAT2 NM_002408.3(MGAT2): c.799G> C (p.Asp267His) single nucleotide variant Pathogenic GRCh37 Chromosome 14, 50088785: 50088785

Expression for Congenital Disorder of Glycosylation, Type Iia

Search GEO for disease gene expression data for Congenital Disorder of Glycosylation, Type Iia.

Pathways for Congenital Disorder of Glycosylation, Type Iia

Pathways related to Congenital Disorder of Glycosylation, Type Iia according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.18 ALG2 DPM1 LTF MGAT2 MPDU1 MPI
2
Show member pathways
12.32 ALG2 DPM1 MGAT2 MPDU1 MPI PMM2
3
Show member pathways
11.31 ALG2 DPM1 MPDU1 MPI PMM2
4
Show member pathways
11.25 MPI PMM2
5
Show member pathways
11.23 ALG2 DPM1 MGAT2
6
Show member pathways
10.99 MPI PMM2

GO Terms for Congenital Disorder of Glycosylation, Type Iia

Biological processes related to Congenital Disorder of Glycosylation, Type Iia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 retina homeostasis GO:0001895 9.43 LTF TF
2 protein N-linked glycosylation GO:0006487 9.4 MGAT2 PMM2
3 iron ion homeostasis GO:0055072 9.37 LTF TF
4 mannosylation GO:0097502 9.32 ALG2 DPM1
5 dolichol-linked oligosaccharide biosynthetic process GO:0006488 9.26 ALG2 MPDU1
6 oligosaccharide biosynthetic process GO:0009312 9.16 MGAT2 MPDU1
7 protein glycosylation GO:0006486 9.1 ALG2 DPM1 MGAT2 MPI PMM2 POMGNT1
8 GDP-mannose biosynthetic process GO:0009298 8.96 MPI PMM2

Molecular functions related to Congenital Disorder of Glycosylation, Type Iia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transferase activity, transferring glycosyl groups GO:0016757 8.92 ALG2 DPM1 MGAT2 POMGNT1

Sources for Congenital Disorder of Glycosylation, Type Iia

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