CDG1I
MCID: CNG412
MIFTS: 49

Congenital Disorder of Glycosylation, Type Ii (CDG1I)

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 Ii

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

Name: Congenital Disorder of Glycosylation, Type Ii 58 13 74
Congenital Disorder of Glycosylation Type Ii 12 60 76 15 17
Congenital Disorder of Glycosylation Type Iie 12 60 76 15
Cdg2e 58 12 60 76
Congenital Disorder of Glycosylation Type 1i 60 30 6
Cdg Iie 58 12 76
Cdg1i 58 60 76
Carbohydrate Deficient Glycoprotein Syndrome Type Iie 12 60
Congenital Disorder of Glycosylation, Type Iie 58 13
Congenital Disorders of Glycosylation Type Ii 38 6
Congenital Disorder of Glycosylation Type 2e 60 74
Cdg Syndrome Type Iie 12 60
Cdg-Iie 60 76
Cdg Ii 58 76
Cdgiie 58 76
Cdg-Ii 60 76
Cdgii 58 76
Carbohydrate Deficient Glycoprotein Syndrome Type Ii 60
Glycosylation, Congenital Disorder of, Type Iie 41
Glycosylation, Congenital Disorder of, Type Ii 41
Congenital Disorder of Glycosylation Type 2a 74
Congenital Disorder of Glycosylation 1i 76
Congenital Disorder of Glycosylation 2e 76
Mannosyltransferase 2 Deficiency 60
Cdg Syndrome Type Ii 60
Cdg Iie; Cdgiie 58
Cdg Ii; Cdgii 58
Cog7-Cdg 60
Alg2-Cdg 60
Cdgiide 12

Characteristics:

Orphanet epidemiological data:

60
cog7-cdg
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: early childhood;
alg2-cdg
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
onset in early infancy
one patient has been reported (last curated february 2015)


HPO:

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


Classifications:



Summaries for Congenital Disorder of Glycosylation, Type Ii

UniProtKB/Swiss-Prot : 76 Congenital disorder of glycosylation 1I: A form of congenital disorder of glycosylation, 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. Congenital disorder of glycosylation 2E: 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.

MalaCards based summary : Congenital Disorder of Glycosylation, Type Ii, also known as congenital disorder of glycosylation type ii, is related to congenital disorder of glycosylation, type iij and congenital disorder of glycosylation, type iio, and has symptoms including seizures An important gene associated with Congenital Disorder of Glycosylation, Type Ii is ALG2 (ALG2 Alpha-1,3/1,6-Mannosyltransferase), and among its related pathways/superpathways are N-Glycan biosynthesis and Metabolism. Affiliated tissues include skin, liver and eye, and related phenotypes are nystagmus and seizures

Disease Ontology : 12 A congenital disorder of glycosylation that involves malfunctioning trimming/processing of the protein-bound oligosaccharide chain.

Description from OMIM: 607906 608779

Related Diseases for Congenital Disorder of Glycosylation, Type Ii

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 Ii via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 32)
# Related Disease Score Top Affiliating Genes
1 congenital disorder of glycosylation, type iij 32.0 ALG2 COG1 COG4 COG5
2 congenital disorder of glycosylation, type iio 32.0 ATP6V0A2 CCDC115
3 congenital disorder of glycosylation, type iip 31.9 ATP6V0A2 TMEM199
4 congenital disorder of glycosylation, type iia 31.8 ALG2 PMM2
5 congenital disorder of glycosylation, type iid 31.6 ALG2 B4GALT1 PMM2
6 congenital disorder of glycosylation, type iif 31.6 ALG2 B4GALT1 PMM2
7 congenital disorder of glycosylation, type iik 31.6 APOC3 ATP6V0A2 PMM2
8 congenital disorder of glycosylation, type iih 31.5 ALG2 APOC3 COG1 COG7 COG8
9 congenital disorder of glycosylation, type iii 31.5 ALG2 APOC3 COG1 COG5 PMM2
10 congenital disorder of glycosylation, type iim 30.6 ALG2 APOC3 ATP6V0A2 B4GALT1 COG1 PMM2
11 congenital disorder of glycosylation, type in 25.8 ALG1 ALG2 ALG3 ALG6 ALG8 ALG9
12 man1b1-cdg 11.5
13 congenital disorder of glycosylation, type iy 11.3
14 congenital disorder of glycosylation, type iic 11.2
15 congenital disorder of glycosylation, type iib 11.2
16 congenital disorder of glycosylation, type iig 11.2
17 congenital disorder of glycosylation, type iil 11.2
18 congenital disorder of glycosylation, type iin 11.2
19 congenital disorder of glycosylation, type iiq 11.2
20 congenital disorder of glycosylation, type ic 11.1
21 ssr4-cdg 11.1
22 congenital disorder of glycosylation, type ih 10.3 ALG2 ALG8
23 granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type i 10.2 ALG3 PMM2
24 cone-rod dystrophy, x-linked, 1 10.1 COG4 COG5 COG8
25 cone-rod dystrophy, x-linked, 2 10.1 COG4 COG5 COG8
26 congenital disorder of glycosylation, type il 10.1 ALG9 ATP6V0A2
27 granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type ii 10.1 ALG3 PMM2
28 carbohydrate metabolic disorder 10.1 ALG2 ALG6 PMM2
29 autosomal recessive disease 10.0
30 granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type iii 10.0 ALG3 PMM2
31 walker-warburg syndrome 9.9 ALG1 ALG2 DPM2
32 epileptic encephalopathy, early infantile, 36 9.2 ALG1 ALG2 ALG6 CCDC115 DPM2 PMM2

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



Diseases related to Congenital Disorder of Glycosylation, Type Ii

Symptoms & Phenotypes for Congenital Disorder of Glycosylation, Type Ii

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

60 33 (show all 16)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nystagmus 60 33 hallmark (90%) Very frequent (99-80%) HP:0000639
2 seizures 60 33 hallmark (90%) Very frequent (99-80%) HP:0001250
3 muscular hypotonia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001252
4 cataract 60 33 hallmark (90%) Very frequent (99-80%) HP:0000518
5 cognitive impairment 60 33 hallmark (90%) Very frequent (99-80%) HP:0100543
6 hypertrophic cardiomyopathy 60 33 hallmark (90%) Very frequent (99-80%) HP:0001639
7 abnormality of immune system physiology 60 33 hallmark (90%) Very frequent (99-80%) HP:0010978
8 iris coloboma 60 33 hallmark (90%) Very frequent (99-80%) HP:0000612
9 intellectual disability 33 HP:0001249
10 hyperreflexia 33 HP:0001347
11 global developmental delay 33 HP:0001263
12 hepatomegaly 33 HP:0002240
13 visual impairment 33 HP:0000505
14 abnormality of coagulation 33 HP:0001928
15 coloboma 33 HP:0000589
16 hypsarrhythmia 33 HP:0002521

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
nystagmus
cataract
coloboma
poor vision

Abdomen Liver:
hepatomegaly

Laboratory Abnormalities:
increased di- and asialo-transferrin characteristic of type 1 pattern

Neurologic Central Nervous System:
seizures
hyperreflexia
hypsarrhythmia
mental retardation
delayed psychomotor development, severe
more
Hematology:
coagulation abnormalities

Clinical features from OMIM:

607906 608779

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


seizures

GenomeRNAi Phenotypes related to Congenital Disorder of Glycosylation, Type Ii according to GeneCards Suite gene sharing:

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 no effect GR00402-S-1 9.9 ALG1 ALG2 ALG3 ALG6 ALG8 ALG9
2 Decreased shRNA abundance GR00297-A 9.46 ALG1 DPM2 PMM2 SRD5A3
3 Decreased viability with paclitaxel GR00179-A-1 8.96 COG1 COG8

Drugs & Therapeutics for Congenital Disorder of Glycosylation, Type Ii

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

Genetic Tests for Congenital Disorder of Glycosylation, Type Ii

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

# Genetic test Affiliating Genes
1 Congenital Disorder of Glycosylation Type 1i 30 ALG2

Anatomical Context for Congenital Disorder of Glycosylation, Type Ii

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

42
Skin, Liver, Eye

Publications for Congenital Disorder of Glycosylation, Type Ii

Articles related to Congenital Disorder of Glycosylation, Type Ii:

# Title Authors Year
1
Conserved oligomeric Golgi complex subunit 1 deficiency reveals a previously uncharacterized congenital disorder of glycosylation type II. ( 16537452 )
2006

Variations for Congenital Disorder of Glycosylation, Type Ii

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

6 (show top 50) (show all 92)
# Gene Variation Type Significance SNP ID Assembly Location
1 ALG2 NM_033087.3(ALG2): c.17G> C (p.Gly6Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs180849348 GRCh37 Chromosome 9, 101984160: 101984160
2 ALG2 NM_033087.3(ALG2): c.17G> C (p.Gly6Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs180849348 GRCh38 Chromosome 9, 99221878: 99221878
3 ALG2 NM_033087.3(ALG2): c.84C> G (p.Gly28=) single nucleotide variant Benign/Likely benign rs61744789 GRCh37 Chromosome 9, 101984093: 101984093
4 ALG2 NM_033087.3(ALG2): c.84C> G (p.Gly28=) single nucleotide variant Benign/Likely benign rs61744789 GRCh38 Chromosome 9, 99221811: 99221811
5 COG7 NM_153603.3(COG7): c.323dupT (p.Leu108Phefs) duplication Pathogenic rs797044712 GRCh37 Chromosome 16, 23456481: 23456481
6 COG7 NM_153603.3(COG7): c.323dupT (p.Leu108Phefs) duplication Pathogenic rs797044712 GRCh38 Chromosome 16, 23445160: 23445160
7 CCDC115 NM_032357.3(CCDC115): c.31G> T (p.Asp11Tyr) single nucleotide variant Pathogenic rs869025583 GRCh38 Chromosome 2, 130342095: 130342095
8 CCDC115 NM_032357.3(CCDC115): c.31G> T (p.Asp11Tyr) single nucleotide variant Pathogenic rs869025583 GRCh37 Chromosome 2, 131099668: 131099668
9 TMEM199 NM_152464.2(TMEM199): c.92G> C (p.Arg31Pro) single nucleotide variant Pathogenic rs782531869 GRCh38 Chromosome 17, 28357762: 28357762
10 TMEM199 NM_152464.2(TMEM199): c.92G> C (p.Arg31Pro) single nucleotide variant Pathogenic rs782531869 GRCh37 Chromosome 17, 26684785: 26684785
11 TMEM199 NM_152464.2(TMEM199): c.20C> A (p.Ala7Glu) single nucleotide variant Pathogenic rs369488804 GRCh38 Chromosome 17, 28357690: 28357690
12 TMEM199 NM_152464.2(TMEM199): c.20C> A (p.Ala7Glu) single nucleotide variant Pathogenic rs369488804 GRCh37 Chromosome 17, 26684713: 26684713
13 CCDC115 NM_032357.3(CCDC115): c.92T> C (p.Leu31Ser) single nucleotide variant Pathogenic rs751325113 GRCh37 Chromosome 2, 131099607: 131099607
14 CCDC115 NM_032357.3(CCDC115): c.92T> C (p.Leu31Ser) single nucleotide variant Pathogenic rs751325113 GRCh38 Chromosome 2, 130342034: 130342034
15 ALG2 NM_033087.3(ALG2): c.1040delG (p.Gly347Valfs) deletion Pathogenic rs387906281 GRCh37 Chromosome 9, 101980427: 101980427
16 ALG2 NM_033087.3(ALG2): c.1040delG (p.Gly347Valfs) deletion Pathogenic rs387906281 GRCh38 Chromosome 9, 99218145: 99218145
17 ALG2 NM_033087.3(ALG2): c.393G> T (p.Lys131Asn) single nucleotide variant Pathogenic rs730880304 GRCh38 Chromosome 9, 99218792: 99218792
18 ALG2 NM_033087.3(ALG2): c.393G> T (p.Lys131Asn) single nucleotide variant Pathogenic rs730880304 GRCh37 Chromosome 9, 101981074: 101981074
19 COG7 NM_153603.3(COG7): c.169+4A> C single nucleotide variant Pathogenic rs1555497568 GRCh38 Chromosome 16, 23452822: 23452822
20 COG7 NM_153603.3(COG7): c.169+4A> C single nucleotide variant Pathogenic rs1555497568 GRCh37 Chromosome 16, 23464143: 23464143
21 COG7 NM_153603.3(COG7): c.170-7A> G single nucleotide variant Pathogenic rs1555496968 GRCh38 Chromosome 16, 23445968: 23445968
22 COG7 NM_153603.3(COG7): c.170-7A> G single nucleotide variant Pathogenic rs1555496968 GRCh37 Chromosome 16, 23457289: 23457289
23 ALG2 NM_033087.3(ALG2): c.760T> C (p.Leu254=) single nucleotide variant Conflicting interpretations of pathogenicity rs62562374 GRCh37 Chromosome 9, 101980707: 101980707
24 ALG2 NM_033087.3(ALG2): c.760T> C (p.Leu254=) single nucleotide variant Conflicting interpretations of pathogenicity rs62562374 GRCh38 Chromosome 9, 99218425: 99218425
25 ALG2 NM_033087.3(ALG2): c.30C> G (p.Asp10Glu) single nucleotide variant Benign/Likely benign rs7023652 GRCh37 Chromosome 9, 101984147: 101984147
26 ALG2 NM_033087.3(ALG2): c.30C> G (p.Asp10Glu) single nucleotide variant Benign/Likely benign rs7023652 GRCh38 Chromosome 9, 99221865: 99221865
27 ALG2 NM_033087.3(ALG2): c.129C> G (p.Arg43=) single nucleotide variant Benign/Likely benign rs35055733 GRCh37 Chromosome 9, 101984048: 101984048
28 ALG2 NM_033087.3(ALG2): c.129C> G (p.Arg43=) single nucleotide variant Benign/Likely benign rs35055733 GRCh38 Chromosome 9, 99221766: 99221766
29 ALG2 NM_033087.3(ALG2): c.1132C> T (p.Arg378Cys) single nucleotide variant Uncertain significance rs56393253 GRCh37 Chromosome 9, 101980335: 101980335
30 ALG2 NM_033087.3(ALG2): c.1132C> T (p.Arg378Cys) single nucleotide variant Uncertain significance rs56393253 GRCh38 Chromosome 9, 99218053: 99218053
31 ALG2 NM_033087.3(ALG2): c.1174G> A (p.Ala392Thr) single nucleotide variant Uncertain significance rs138258236 GRCh38 Chromosome 9, 99218011: 99218011
32 ALG2 NM_033087.3(ALG2): c.1174G> A (p.Ala392Thr) single nucleotide variant Uncertain significance rs138258236 GRCh37 Chromosome 9, 101980293: 101980293
33 ALG2 NM_033087.3(ALG2): c.159C> T (p.His53=) single nucleotide variant Conflicting interpretations of pathogenicity rs527683080 GRCh38 Chromosome 9, 99221736: 99221736
34 ALG2 NM_033087.3(ALG2): c.159C> T (p.His53=) single nucleotide variant Conflicting interpretations of pathogenicity rs527683080 GRCh37 Chromosome 9, 101984018: 101984018
35 ALG2 NM_033087.3(ALG2): c.1A> G (p.Met1Val) single nucleotide variant Uncertain significance rs750172644 GRCh38 Chromosome 9, 99221894: 99221894
36 ALG2 NM_033087.3(ALG2): c.1A> G (p.Met1Val) single nucleotide variant Uncertain significance rs750172644 GRCh37 Chromosome 9, 101984176: 101984176
37 ALG2 NM_033087.3(ALG2): c.304C> T (p.Leu102=) single nucleotide variant Conflicting interpretations of pathogenicity rs749236548 GRCh38 Chromosome 9, 99221591: 99221591
38 ALG2 NM_033087.3(ALG2): c.304C> T (p.Leu102=) single nucleotide variant Conflicting interpretations of pathogenicity rs749236548 GRCh37 Chromosome 9, 101983873: 101983873
39 ALG2 NM_033087.3(ALG2): c.288C> T (p.Phe96=) single nucleotide variant Benign/Likely benign rs542863968 GRCh37 Chromosome 9, 101983889: 101983889
40 ALG2 NM_033087.3(ALG2): c.288C> T (p.Phe96=) single nucleotide variant Benign/Likely benign rs542863968 GRCh38 Chromosome 9, 99221607: 99221607
41 ALG2 NM_033087.3(ALG2): c.167C> T (p.Pro56Leu) single nucleotide variant Benign rs201959100 GRCh38 Chromosome 9, 99221728: 99221728
42 ALG2 NM_033087.3(ALG2): c.167C> T (p.Pro56Leu) single nucleotide variant Benign rs201959100 GRCh37 Chromosome 9, 101984010: 101984010
43 ALG2 NM_033087.3(ALG2): c.216G> T (p.Gly72=) single nucleotide variant Conflicting interpretations of pathogenicity rs531748488 GRCh37 Chromosome 9, 101983961: 101983961
44 ALG2 NM_033087.3(ALG2): c.216G> T (p.Gly72=) single nucleotide variant Conflicting interpretations of pathogenicity rs531748488 GRCh38 Chromosome 9, 99221679: 99221679
45 ALG2 NM_033087.3(ALG2): c.1055_1056delCCinsTGA (p.Ser352Leufs) indel Uncertain significance rs1554707637 GRCh37 Chromosome 9, 101980411: 101980412
46 ALG2 NM_033087.3(ALG2): c.1055_1056delCCinsTGA (p.Ser352Leufs) indel Uncertain significance rs1554707637 GRCh38 Chromosome 9, 99218129: 99218130
47 ALG2 NM_033087.3(ALG2): c.443A> G (p.Asp148Gly) single nucleotide variant Uncertain significance rs369670496 GRCh37 Chromosome 9, 101981024: 101981024
48 ALG2 NM_033087.3(ALG2): c.443A> G (p.Asp148Gly) single nucleotide variant Uncertain significance rs369670496 GRCh38 Chromosome 9, 99218742: 99218742
49 ALG2 NM_033087.3(ALG2): c.729A> T (p.Ala243=) single nucleotide variant Likely benign rs748947069 GRCh37 Chromosome 9, 101980738: 101980738
50 ALG2 NM_033087.3(ALG2): c.729A> T (p.Ala243=) single nucleotide variant Likely benign rs748947069 GRCh38 Chromosome 9, 99218456: 99218456

Expression for Congenital Disorder of Glycosylation, Type Ii

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

Pathways for Congenital Disorder of Glycosylation, Type Ii

Pathways related to Congenital Disorder of Glycosylation, Type Ii according to KEGG:

38
# Name Kegg Source Accession
1 N-Glycan biosynthesis hsa00510

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.81 ALG1 ALG2 ALG3 ALG6 ALG8 ALG9
2
Show member pathways
13.56 ALG1 ALG2 ALG3 ALG6 ALG8 ALG9
3
Show member pathways
12.45 COG1 COG4 COG5 COG7 COG8
4
Show member pathways
12.39 ALG1 ALG2 ALG3 ALG6 ALG8 ALG9
5
Show member pathways
12.1 ALG1 ALG2 ALG3 ALG6 ALG8 ALG9
6 11.46 COG1 COG4 COG5 COG7 COG8
7 11.37 COG1 COG4 COG5 COG7 COG8
8
Show member pathways
11.34 ALG1 ALG2 ALG3 ALG6 ALG8 ALG9

GO Terms for Congenital Disorder of Glycosylation, Type Ii

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

# Name GO ID Score Top Affiliating Genes
1 Golgi apparatus GO:0005794 9.91 B4GALT1 COG1 COG4 COG5 COG7 COG8
2 Golgi membrane GO:0000139 9.88 B4GALT1 COG1 COG4 COG5 COG7 COG8
3 endoplasmic reticulum membrane GO:0005789 9.81 ALG1 ALG2 ALG3 ALG6 ALG8 ALG9
4 vacuolar proton-transporting V-type ATPase complex GO:0016471 9.43 ATP6V0A2 CCDC115 TMEM199
5 trans-Golgi network membrane GO:0032588 9.35 COG1 COG4 COG5 COG7 COG8
6 Golgi transport complex GO:0017119 9.02 COG1 COG4 COG5 COG7 COG8
7 membrane GO:0016020 10.25 ALG1 ALG2 ALG3 ALG6 ALG8 ALG9
8 endoplasmic reticulum GO:0005783 10.02 ALG1 ALG3 ALG6 ALG8 ALG9 CCDC115

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 protein transport GO:0015031 9.92 COG1 COG4 COG5 COG7 COG8
2 ER to Golgi vesicle-mediated transport GO:0006888 9.8 COG1 COG4 COG5 COG7 COG8
3 Golgi organization GO:0007030 9.71 COG1 COG4 COG7
4 protein glycosylation GO:0006486 9.7 ALG1 ALG2 ALG3 ALG6 ALG8 ALG9
5 cellular iron ion homeostasis GO:0006879 9.67 ATP6V0A2 CCDC115 TMEM199
6 protein N-linked glycosylation GO:0006487 9.67 ALG6 ALG8 B4GALT1 PMM2
7 intra-Golgi vesicle-mediated transport GO:0006891 9.61 COG1 COG5 COG8
8 mannosylation GO:0097502 9.55 ALG1 ALG2 ALG3 ALG8 ALG9
9 lysosomal lumen acidification GO:0007042 9.51 CCDC115 TMEM199
10 cellular response to increased oxygen levels GO:0036295 9.5 ATP6V0A2 CCDC115 TMEM199
11 dolichol metabolic process GO:0019348 9.48 DPM2 SRD5A3
12 lysosomal protein catabolic process GO:1905146 9.46 CCDC115 TMEM199
13 oligosaccharide-lipid intermediate biosynthetic process GO:0006490 9.43 ALG2 ALG6 ALG8
14 dolichol-linked oligosaccharide biosynthetic process GO:0006488 9.17 ALG1 ALG2 ALG3 ALG6 ALG8 ALG9

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

# Name GO ID Score Top Affiliating Genes
1 transferase activity GO:0016740 9.95 ALG1 ALG2 ALG3 ALG6 ALG8 ALG9
2 transferase activity, transferring hexosyl groups GO:0016758 9.43 ALG6 ALG8
3 enzyme regulator activity GO:0030234 9.37 APOC3 DPM2
4 mannosyltransferase activity GO:0000030 9.32 ALG1 ALG9
5 dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity GO:0004583 9.26 ALG6 ALG8
6 transferase activity, transferring glycosyl groups GO:0016757 9.17 ALG1 ALG2 ALG3 ALG6 ALG8 ALG9
7 dolichyl pyrophosphate Man9GlcNAc2 alpha-1,3-glucosyltransferase activity GO:0042281 9.16 ALG6 ALG8
8 alpha-1,3-mannosyltransferase activity GO:0000033 9.13 ALG2 ALG3 ALG8

Sources for Congenital Disorder of Glycosylation, Type Ii

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
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34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
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45 MeSH
46 MESH via Orphanet
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50 NCI
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58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
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75 UMLS via Orphanet
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