CDG2M
MCID: CNG389
MIFTS: 44

Congenital Disorder of Glycosylation, Type Iim (CDG2M)

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 Iim

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

Name: Congenital Disorder of Glycosylation, Type Iim 57 53 29 6 73
Congenital Disorder of Glycosylation Type Iim 12 53 59 75 15
Cdg2m 57 12 53 59 75
Epileptic Encephalopathy, Early Infantile, 22 57 12 75
Congenital Disorder of Glycosylation Type 2m 12 53 59
Cdg Syndrome Type Iim 12 53 59
Slc35a2-Cdg 12 53 59
Cdg Iim 57 12 75
Cdg-Iim 53 59 75
Cdgiim 57 12 75
Eiee22 57 12 75
Epileptic Encephalopathy, Early Infantile, 22; Eiee22 57 53
Glycosylation, Congenital Disorder of, Type Iim 40
Congenital Disorder of Glycosylation, X-Linked 13
Congenital Disorder of Glycosylation X-Linked 75
Congenital Disorder of Glycosylation 2m 75
Cdg Iim; Cdgiim 57

Characteristics:

Orphanet epidemiological data:

59
slc35a2-cdg
Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Miscellaneous:
onset in infancy
males carry mutations in the somatic mosaic state
abnormal transferrin pattern tends to improve with age

Inheritance:
x-linked dominant
somatic mosaicism (in males)


HPO:

32
congenital disorder of glycosylation, type iim:
Inheritance somatic mosaicism x-linked dominant inheritance
Onset and clinical course infantile onset


Classifications:



Summaries for Congenital Disorder of Glycosylation, Type Iim

UniProtKB/Swiss-Prot : 75 Congenital disorder of glycosylation 2M: A disorder characterized by developmental delay, hypotonia, ocular anomalies, and brain malformations. Othere more variable clinical features included seizures, hypsarrhythmia, poor feeding, microcephaly, recurrent infections, dysmorphic features, shortened limbs, and coagulation defects. Congenital disorders of glycosylation are caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins and a wide variety of clinical features. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions.

MalaCards based summary : Congenital Disorder of Glycosylation, Type Iim, also known as congenital disorder of glycosylation type iim, is related to slc35a2-congenital disorder of glycosylation and congenital disorder of glycosylation, type iij, and has symptoms including seizures An important gene associated with Congenital Disorder of Glycosylation, Type Iim is SLC35A2 (Solute Carrier Family 35 Member A2), and among its related pathways/superpathways are Metabolism and Metabolism of proteins. Affiliated tissues include brain, skin and liver, and related phenotypes are nystagmus and seizures

Disease Ontology : 12 A congenital disorder of glycosylation type II that has material basis in an X-linked dominant mutation of SLC35A2 on chromosome Xp11.23.

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 356961Disease definitionSLC35A2-CDG is a congenital disorder of glycosylation characterized by severe or profound global developmental delay, early epileptic encephalopathy, muscular hypotonia, dysmorphic features (coarse facies, thick eyebrows, broad nasal bridge, thick lips, inverted nipples), variable ocular defects and brain morphological abnormalities on brain MRI (cerebral atrophy, thin corpus callosum).Visit the Orphanet disease page for more resources.

OMIM : 57 Congenital disorder of glycosylation type IIm, or early infantile epileptic encephalopathy-22, is an X-linked dominant severe neurologic disorder characterized by infantile-onset seizures, hypsarrhythmia, hypotonia, and severe intellectual disability with lack of speech. Brain malformations include cerebral and cerebellar atrophy. Additionally, some patients had dysmorphic features or coarse facies (Ng et al., 2013; Kodera et al., 2013). For a general discussion of CDGs, see CDG1A (212065) and CDG2A (212066). For a general phenotypic description and a discussion of genetic heterogeneity of EIEE, see EIEE1 (308350). (300896)

Related Diseases for Congenital Disorder of Glycosylation, Type Iim

Diseases in the Congenital Disorder of Glycosylation, Type in 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 Ii
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 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 Iim via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 18)
# Related Disease Score Top Affiliating Genes
1 slc35a2-congenital disorder of glycosylation 12.0
2 congenital disorder of glycosylation, type iij 10.1 ALG2 COG1
3 congenital disorder of glycosylation, type iil 10.1 COG6 TF
4 congenital disorder of glycosylation, type iio 10.0 ATP6V0A2 MAN1B1 PGM1
5 congenital disorder of glycosylation, type iip 10.0 ATP6V0A2 MAN1B1 PGM1
6 epileptic encephalopathy, early infantile, 36 10.0 ALG2 PMM2
7 multiple congenital anomalies-hypotonia-seizures syndrome 3 10.0 PMM2 TF
8 congenital disorder of glycosylation, type ia 10.0 PMM2 TF
9 congenital disorder of glycosylation, type iia 10.0 ALG2 PMM2 TF
10 fructose intolerance, hereditary 9.9 ALG2 PMM2 TF
11 carbohydrate metabolic disorder 9.9 ALG2 PMM2
12 congenital disorder of glycosylation, type iid 9.8 ALG2 B4GALT1 PMM2 TF
13 congenital disorder of glycosylation, type iik 9.5 APOC3 ATP6V0A2 PGM1 PMM2 TF
14 congenital disorder of glycosylation, type iih 9.4 ALG2 APOC3 COG1 COG6 PIGA TF
15 congenital disorder of glycosylation, type iii 9.4 ALG2 APOC3 COG1 PIGA PMM2 TF
16 congenital disorder of glycosylation, type ii 9.3 ALG2 APOC3 ATP6V0A2 COG1 MAN1B1 PMM2
17 congenital disorder of glycosylation, type iif 9.1 ALG2 B4GALT1 GYPC MAN1B1 MGAT4C PGM1
18 congenital disorder of glycosylation, type in 9.0 ALG2 APOC3 ATP6V0A2 COG1 COG6 MAN1B1

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



Diseases related to Congenital Disorder of Glycosylation, Type Iim

Symptoms & Phenotypes for Congenital Disorder of Glycosylation, Type Iim

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
nystagmus
thick eyebrows
retinitis pigmentosa
ocular flutter

Head And Neck Head:
microcephaly

Immunology:
recurrent infections

Muscle Soft Tissue:
hypotonia

Abdomen Gastrointestinal:
gastroesophageal reflux (1 patient)

Skeletal Limbs:
shortened extremities

Laboratory Abnormalities:
abnormal serum transferrin pattern (in some patients)
loss of galactose and sialic acid from multiple branches of complex type n-glycans (in some patients)

Neurologic Central Nervous System:
seizures
cerebral atrophy
hypsarrhythmia
epileptic encephalopathy
delayed myelination
more
Head And Neck Mouth:
open mouth
thick lips

Head And Neck Nose:
broad nasal bridge

Head And Neck Face:
coarse facies
dysmorphic features
maxillary prognathism

Genitourinary Kidneys:
acute nephrotic syndrome (1 patient)

Hematology:
coagulation defects (1 patient)


Clinical features from OMIM:

300896

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

32 (show all 20)
# Description HPO Frequency HPO Source Accession
1 nystagmus 32 HP:0000639
2 seizures 32 HP:0001250
3 coarse facial features 32 HP:0000280
4 global developmental delay 32 HP:0001263
5 wide nasal bridge 32 HP:0000431
6 thick vermilion border 32 HP:0012471
7 microcephaly 32 HP:0000252
8 thick eyebrow 32 HP:0000574
9 gastroesophageal reflux 32 occasional (7.5%) HP:0002020
10 cerebellar hypoplasia 32 HP:0001321
11 open mouth 32 HP:0000194
12 recurrent infections 32 HP:0002719
13 rod-cone dystrophy 32 HP:0000510
14 generalized hypotonia 32 HP:0001290
15 hypoplasia of the corpus callosum 32 HP:0002079
16 cerebral atrophy 32 HP:0002059
17 hypsarrhythmia 32 HP:0002521
18 epileptic encephalopathy 32 HP:0200134
19 delayed myelination 32 HP:0012448
20 ocular flutter 32 HP:0031931

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


seizures

Drugs & Therapeutics for Congenital Disorder of Glycosylation, Type Iim

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

Genetic Tests for Congenital Disorder of Glycosylation, Type Iim

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

# Genetic test Affiliating Genes
1 Congenital Disorder of Glycosylation, Type Iim 29 SLC35A2

Anatomical Context for Congenital Disorder of Glycosylation, Type Iim

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

41
Brain, Skin, Liver, Bone, Eye, Cerebellum

Publications for Congenital Disorder of Glycosylation, Type Iim

Variations for Congenital Disorder of Glycosylation, Type Iim

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

75
# Symbol AA change Variation ID SNP ID
1 SLC35A2 p.Val331Ile VAR_069773 rs587776961
2 SLC35A2 p.Ser213Phe VAR_071699 rs587777436

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

6 (show top 50) (show all 70)
# Gene Variation Type Significance SNP ID Assembly Location
1 SLC35A2 SLC35A2: c.15_91+48delinsA indel Pathogenic GRCh37 Chromosome X, 48768775: 48768899
2 SLC35A2 SLC35A2: c.15_91+48delinsA indel Pathogenic GRCh38 Chromosome X, 48911498: 48911622
3 SLC35A2 NM_001042498.2(SLC35A2): c.991G> A (p.Val331Ile) single nucleotide variant Likely pathogenic rs587776961 GRCh37 Chromosome X, 48762195: 48762195
4 SLC35A2 NM_001042498.2(SLC35A2): c.991G> A (p.Val331Ile) single nucleotide variant Likely pathogenic rs587776961 GRCh38 Chromosome X, 48904918: 48904918
5 SLC35A2 NM_001042498.2(SLC35A2): c.3G> A (p.Met1Ile) single nucleotide variant Pathogenic rs587776962 GRCh37 Chromosome X, 48768911: 48768911
6 SLC35A2 NM_001042498.2(SLC35A2): c.3G> A (p.Met1Ile) single nucleotide variant Pathogenic rs587776962 GRCh38 Chromosome X, 48911634: 48911634
7 SLC35A2 NM_001042498.2(SLC35A2): c.433_434delTA (p.Tyr145Profs) deletion Pathogenic rs587777434 GRCh37 Chromosome X, 48762752: 48762753
8 SLC35A2 NM_001042498.2(SLC35A2): c.433_434delTA (p.Tyr145Profs) deletion Pathogenic rs587777434 GRCh38 Chromosome X, 48905475: 48905476
9 SLC35A2 NM_001042498.2(SLC35A2): c.972delT (p.Phe324Leufs) deletion Pathogenic rs587777435 GRCh37 Chromosome X, 48762214: 48762214
10 SLC35A2 NM_001042498.2(SLC35A2): c.972delT (p.Phe324Leufs) deletion Pathogenic rs587777435 GRCh38 Chromosome X, 48904937: 48904937
11 SLC35A2 NM_001042498.2(SLC35A2): c.638C> T (p.Ser213Phe) single nucleotide variant Pathogenic rs587777436 GRCh37 Chromosome X, 48762548: 48762548
12 SLC35A2 NM_001042498.2(SLC35A2): c.638C> T (p.Ser213Phe) single nucleotide variant Pathogenic rs587777436 GRCh38 Chromosome X, 48905271: 48905271
13 SLC35A2 NM_005660.2(SLC35A2): c.800A> G (p.Tyr267Cys) single nucleotide variant Likely pathogenic rs869312860 GRCh38 Chromosome X, 48905109: 48905109
14 SLC35A2 NM_005660.2(SLC35A2): c.800A> G (p.Tyr267Cys) single nucleotide variant Likely pathogenic rs869312860 GRCh37 Chromosome X, 48762386: 48762386
15 Likely pathogenic NCBI36/hg18 17p13.1(chr17: 6853665-8107394)x4 copy number gain 0 rsRCV000210386 Chromosome 17, 6853665:8107394 224825
16 Pathogenic NC_000017.9: g.6996378_7152828del156451 deletion 0 rsRCV000210394 Chromosome 17, 6996378:7152828 224826
17 Pathogenic NC_000017.9: g.6936148_7177360del241213 deletion 0 rsRCV000210404 Chromosome 17, 6936148:7177360 224827
18 Pathogenic NC_000017.9: g.7033635_7977678del944044 deletion 0 rsRCV000210387 Chromosome 17, 7033635:7977678 224828
19 Pathogenic NC_000017.9: g.6838295_7991364del1153070 deletion 0 rsRCV000210397 Chromosome 17, 6838295:7991364 224829
20 SLC35A2 NM_001042498.2(SLC35A2): c.747G> A (p.Gly249=) single nucleotide variant Likely benign rs144809041 GRCh38 Chromosome X, 48905162: 48905162
21 SLC35A2 NM_001042498.2(SLC35A2): c.747G> A (p.Gly249=) single nucleotide variant Likely benign rs144809041 GRCh37 Chromosome X, 48762439: 48762439
22 SLC35A2 NM_001042498.2(SLC35A2): c.12T> G (p.Val4=) single nucleotide variant Benign rs782793880 GRCh37 Chromosome X, 48768902: 48768902
23 SLC35A2 NM_001042498.2(SLC35A2): c.12T> G (p.Val4=) single nucleotide variant Benign rs782793880 GRCh38 Chromosome X, 48911625: 48911625
24 SLC35A2 NM_005660.2(SLC35A2): c.617_620delTCGT (p.Val206Glyfs) deletion Pathogenic rs1057518719 GRCh37 Chromosome X, 48762566: 48762569
25 SLC35A2 NM_005660.2(SLC35A2): c.617_620delTCGT (p.Val206Glyfs) deletion Pathogenic rs1057518719 GRCh38 Chromosome X, 48905289: 48905292
26 SLC35A2 NM_001042498.2(SLC35A2): c.561C> T (p.Ala187=) single nucleotide variant Benign/Likely benign rs370394797 GRCh38 Chromosome X, 48905348: 48905348
27 SLC35A2 NM_001042498.2(SLC35A2): c.561C> T (p.Ala187=) single nucleotide variant Benign/Likely benign rs370394797 GRCh37 Chromosome X, 48762625: 48762625
28 SLC35A2 NM_001042498.2(SLC35A2): c.43C> A (p.Pro15Thr) single nucleotide variant Benign rs55719932 GRCh37 Chromosome X, 48768871: 48768871
29 SLC35A2 NM_001042498.2(SLC35A2): c.43C> A (p.Pro15Thr) single nucleotide variant Benign rs55719932 GRCh38 Chromosome X, 48911594: 48911594
30 SLC35A2 NM_001042498.2(SLC35A2): c.990C> T (p.Leu330=) single nucleotide variant Benign/Likely benign rs146079657 GRCh37 Chromosome X, 48762196: 48762196
31 SLC35A2 NM_001042498.2(SLC35A2): c.990C> T (p.Leu330=) single nucleotide variant Benign/Likely benign rs146079657 GRCh38 Chromosome X, 48904919: 48904919
32 SLC35A2 NM_001042498.2(SLC35A2): c.236G> T (p.Gly79Val) single nucleotide variant Uncertain significance rs1057524438 GRCh37 Chromosome X, 48767129: 48767129
33 SLC35A2 NM_001042498.2(SLC35A2): c.236G> T (p.Gly79Val) single nucleotide variant Uncertain significance rs1057524438 GRCh38 Chromosome X, 48909852: 48909852
34 SLC35A2 NM_001042498.2(SLC35A2): c.1064_1069delCCTCCG (p.Ala355_Ser356del) deletion Conflicting interpretations of pathogenicity rs782439562 GRCh37 Chromosome X, 48762117: 48762122
35 SLC35A2 NM_001042498.2(SLC35A2): c.1064_1069delCCTCCG (p.Ala355_Ser356del) deletion Conflicting interpretations of pathogenicity rs782439562 GRCh38 Chromosome X, 48904840: 48904845
36 SLC35A2 NM_001042498.2(SLC35A2): c.426+287_775del deletion Pathogenic GRCh37 Chromosome X, 48762411: 48763382
37 SLC35A2 NM_001042498.2(SLC35A2): c.535G> A (p.Val179Ile) single nucleotide variant Uncertain significance rs1060503676 GRCh38 Chromosome X, 48905374: 48905374
38 SLC35A2 NM_001042498.2(SLC35A2): c.535G> A (p.Val179Ile) single nucleotide variant Uncertain significance rs1060503676 GRCh37 Chromosome X, 48762651: 48762651
39 SLC35A2 NM_001042498.2(SLC35A2): c.274+5G> A single nucleotide variant Uncertain significance rs1060503677 GRCh37 Chromosome X, 48767086: 48767086
40 SLC35A2 NM_001042498.2(SLC35A2): c.274+5G> A single nucleotide variant Uncertain significance rs1060503677 GRCh38 Chromosome X, 48909809: 48909809
41 SLC35A2 NM_005660.2(SLC35A2): c.245G> T (p.Cys82Phe) single nucleotide variant Uncertain significance GRCh38 Chromosome X, 48909843: 48909843
42 SLC35A2 NM_005660.2(SLC35A2): c.245G> T (p.Cys82Phe) single nucleotide variant Uncertain significance GRCh37 Chromosome X, 48767120: 48767120
43 SLC35A2 NM_001042498.2(SLC35A2): c.958G> T (p.Val320Leu) single nucleotide variant Uncertain significance rs140079332 GRCh37 Chromosome X, 48762228: 48762228
44 SLC35A2 NM_001042498.2(SLC35A2): c.958G> T (p.Val320Leu) single nucleotide variant Uncertain significance rs140079332 GRCh38 Chromosome X, 48904951: 48904951
45 SLC35A2 NM_001042498.2(SLC35A2): c.102C> T (p.Arg34=) single nucleotide variant Likely benign rs977233420 GRCh38 Chromosome X, 48909986: 48909986
46 SLC35A2 NM_001042498.2(SLC35A2): c.102C> T (p.Arg34=) single nucleotide variant Likely benign rs977233420 GRCh37 Chromosome X, 48767263: 48767263
47 SLC35A2 NM_001042498.2(SLC35A2): c.30C> G (p.Thr10=) single nucleotide variant Likely benign rs373480204 GRCh37 Chromosome X, 48768884: 48768884
48 SLC35A2 NM_001042498.2(SLC35A2): c.30C> G (p.Thr10=) single nucleotide variant Likely benign rs373480204 GRCh38 Chromosome X, 48911607: 48911607
49 SLC35A2 NM_001042498.2(SLC35A2): c.942C> T (p.Arg314=) single nucleotide variant Likely benign rs143797243 GRCh38 Chromosome X, 48904967: 48904967
50 SLC35A2 NM_001042498.2(SLC35A2): c.942C> T (p.Arg314=) single nucleotide variant Likely benign rs143797243 GRCh37 Chromosome X, 48762244: 48762244

Expression for Congenital Disorder of Glycosylation, Type Iim

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

Pathways for Congenital Disorder of Glycosylation, Type Iim

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.69 ALG2 APOC3 ATP6V0A2 B4GALT1 MAN1B1 MGAT4C
2
Show member pathways
13.23 ALG2 B4GALT1 COG1 COG6 MAN1B1 MGAT4C
3
Show member pathways
12.11 ALG2 B4GALT1 COG1 COG6 MAN1B1 MGAT4C
4
Show member pathways
11.79 ALG2 PMM2 SLC35A1
6
Show member pathways
11.04 ALG2 B4GALT1 MAN1B1 MGAT4C
7 11.02 COG1 COG6

GO Terms for Congenital Disorder of Glycosylation, Type Iim

Cellular components related to Congenital Disorder of Glycosylation, Type Iim according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 Golgi apparatus GO:0005794 9.56 B4GALT1 COG1 COG6 MAN1B1 MGAT4C SLC35A1
2 integral component of Golgi membrane GO:0030173 9.33 SLC35A1 SLC35A2 SLC35A3
3 Golgi transport complex GO:0017119 9.26 COG1 COG6
4 Golgi membrane GO:0000139 9.17 B4GALT1 COG1 COG6 MGAT4C SLC35A1 SLC35A2
5 membrane GO:0016020 10.1 ALG2 ATP6V0A2 B4GALT1 COG1 COG6 GYPC

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

# Name GO ID Score Top Affiliating Genes
1 carbohydrate metabolic process GO:0005975 9.61 B4GALT1 PGM1 SLC35A1
2 protein N-linked glycosylation GO:0006487 9.4 B4GALT1 PMM2
3 transferrin transport GO:0033572 9.37 ATP6V0A2 TF
4 protein glycosylation GO:0006486 9.35 ALG2 B4GALT1 MAN1B1 MGAT4C PMM2
5 carbohydrate transport GO:0008643 9.33 SLC35A1 SLC35A2 SLC35A3
6 intra-Golgi vesicle-mediated transport GO:0006891 9.32 COG1 COG6
7 galactose metabolic process GO:0006012 9.26 B4GALT1 SLC35A2
8 pyrimidine nucleotide-sugar transmembrane transport GO:0090481 8.8 SLC35A1 SLC35A2 SLC35A3

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

# Name GO ID Score Top Affiliating Genes
1 transferase activity, transferring glycosyl groups GO:0016757 9.26 ALG2 B4GALT1 MGAT4C PIGA
2 pyrimidine nucleotide-sugar transmembrane transporter activity GO:0015165 8.8 SLC35A1 SLC35A2 SLC35A3

Sources for Congenital Disorder of Glycosylation, Type Iim

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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