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 57 13 73
Congenital Disorder of Glycosylation Type Iie 12 59 75 15
Congenital Disorder of Glycosylation Type Ii 12 59 75 15
Cdg2e 57 12 59 75
Congenital Disorder of Glycosylation Type 1i 59 29 6
Cdg Iie 57 12 75
Cdg1i 57 59 75
Carbohydrate Deficient Glycoprotein Syndrome Type Iie 12 59
Congenital Disorder of Glycosylation, Type Iie 57 13
Congenital Disorders of Glycosylation Type Ii 37 6
Congenital Disorder of Glycosylation Type 2e 59 73
Cdg Syndrome Type Iie 12 59
Cdg-Iie 59 75
Cdg Ii 57 75
Cdgiie 57 75
Cdg-Ii 59 75
Cdgii 57 75
Carbohydrate Deficient Glycoprotein Syndrome Type Ii 59
Glycosylation, Congenital Disorder of, Type Iie 40
Glycosylation, Congenital Disorder of, Type Ii 40
Congenital Disorder of Glycosylation Type 2a 73
Congenital Disorder of Glycosylation 1i 75
Congenital Disorder of Glycosylation 2e 75
Mannosyltransferase 2 Deficiency 59
Cdg Syndrome Type Ii 59
Cdg Iie; Cdgiie 57
Cdg Ii; Cdgii 57
Cog7-Cdg 59
Alg2-Cdg 59
Cdgiide 12

Characteristics:

Orphanet epidemiological data:

59
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:

57
Inheritance:
autosomal recessive

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


HPO:

32
congenital disorder of glycosylation, type ii:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Congenital Disorder of Glycosylation, Type Ii

UniProtKB/Swiss-Prot : 75 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 iie, is related to congenital disorder of glycosylation, type iio and congenital disorder of glycosylation, type iid, 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 of proteins. Affiliated tissues include skin, liver and bone, and related phenotypes are nystagmus and seizures

Disease Ontology : 12 A congenital disorder of glycosylation type II that has material basis in a mutation of COG7 on chromosome 16p12.2.

Description from OMIM: 607906 608779

Related Diseases for Congenital Disorder of Glycosylation, Type Ii

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

(show all 29)
# Related Disease Score Top Affiliating Genes
1 congenital disorder of glycosylation, type iio 32.1 ATP6V0A2 CCDC115
2 congenital disorder of glycosylation, type iid 32.1 ALG2 PMM2 TF
3 congenital disorder of glycosylation, type iij 32.0 ALG2 COG1 COG4 COG5
4 congenital disorder of glycosylation, type iif 32.0 ALG2 PMM2 TF
5 congenital disorder of glycosylation, type iip 32.0 ATP6V0A2 TMEM199
6 congenital disorder of glycosylation, type iic 31.9 ATP7A LIPE SLC35C1
7 congenital disorder of glycosylation, type iia 31.9 ALG2 MGAT2 PMM2 TF
8 congenital disorder of glycosylation, type iii 31.8 ALG2 APOC3 COG1 COG5 PMM2 TF
9 congenital disorder of glycosylation, type iim 31.8 ALG2 APOC3 ATP6V0A2 COG1 PMM2 TF
10 congenital disorder of glycosylation, type iik 31.7 APOC3 ATP6V0A2 PMM2 SLC35C1 TF TMEM165
11 congenital disorder of glycosylation, type iih 31.7 ALG2 APOC3 COG1 COG7 COG8 ENSG00000260371
12 congenital disorder of glycosylation, type in 28.4 ALG2 APOC3 ATP6V0A2 ATP7A CCDC115 COG1
13 man1b1-cdg 11.4
14 congenital disorder of glycosylation, type iy 11.3
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 cone-rod dystrophy, x-linked, 1 10.2 COG4 COG5 COG8
23 multiple congenital anomalies-hypotonia-seizures syndrome 3 10.2 PMM2 TF
24 fructose intolerance, hereditary 10.2 ALG2 PMM2 TF
25 epileptic encephalopathy, early infantile, 36 10.1 ALG2 CCDC115 PMM2 SLC35C1
26 congenital disorder of glycosylation, type ia 10.1 PMM2 TF
27 cone-rod dystrophy, x-linked, 2 10.1 COG4 COG5 COG8 ENSG00000260371
28 camurati-engelmann disease 10.0 ALG2 TMEM165
29 autosomal recessive disease 10.0

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

Symptoms via clinical synopsis from OMIM:

57
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

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

59 32 (show all 16)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nystagmus 59 32 hallmark (90%) Very frequent (99-80%) HP:0000639
2 seizures 59 32 hallmark (90%) Very frequent (99-80%) HP:0001250
3 muscular hypotonia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001252
4 cataract 59 32 hallmark (90%) Very frequent (99-80%) HP:0000518
5 cognitive impairment 59 32 hallmark (90%) Very frequent (99-80%) HP:0100543
6 hypertrophic cardiomyopathy 59 32 hallmark (90%) Very frequent (99-80%) HP:0001639
7 abnormality of immune system physiology 59 32 hallmark (90%) Very frequent (99-80%) HP:0010978
8 iris coloboma 59 32 hallmark (90%) Very frequent (99-80%) HP:0000612
9 intellectual disability 32 HP:0001249
10 hyperreflexia 32 HP:0001347
11 global developmental delay 32 HP:0001263
12 hepatomegaly 32 HP:0002240
13 visual impairment 32 HP:0000505
14 abnormality of coagulation 32 HP:0001928
15 coloboma 32 HP:0000589
16 hypsarrhythmia 32 HP:0002521

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:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability with paclitaxel GR00179-A-1 8.96 COG1 COG8
2 Synthetic lethal with imatinib mesylate GR00181-A 8.8 ATP7A LIPE MGAT2

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 29 ALG2

Anatomical Context for Congenital Disorder of Glycosylation, Type Ii

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

41
Skin, Liver, Bone, 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.1040delG (p.Gly347Valfs) deletion Pathogenic rs387906281 GRCh37 Chromosome 9, 101980427: 101980427
2 ALG2 NM_033087.3(ALG2): c.1040delG (p.Gly347Valfs) deletion Pathogenic rs387906281 GRCh38 Chromosome 9, 99218145: 99218145
3 ALG2 NM_033087.3(ALG2): c.393G> T (p.Lys131Asn) single nucleotide variant Pathogenic rs730880304 GRCh38 Chromosome 9, 99218792: 99218792
4 ALG2 NM_033087.3(ALG2): c.393G> T (p.Lys131Asn) single nucleotide variant Pathogenic rs730880304 GRCh37 Chromosome 9, 101981074: 101981074
5 COG7 NM_153603.3(COG7): c.169+4A> C single nucleotide variant Pathogenic GRCh38 Chromosome 16, 23452822: 23452822
6 COG7 NM_153603.3(COG7): c.169+4A> C single nucleotide variant Pathogenic GRCh37 Chromosome 16, 23464143: 23464143
7 COG7 NM_153603.3(COG7): c.170-7A> G single nucleotide variant Pathogenic GRCh38 Chromosome 16, 23445968: 23445968
8 COG7 NM_153603.3(COG7): c.170-7A> G single nucleotide variant Pathogenic GRCh37 Chromosome 16, 23457289: 23457289
9 ALG2 NM_033087.3(ALG2): c.760T> C (p.Leu254=) single nucleotide variant Conflicting interpretations of pathogenicity rs62562374 GRCh37 Chromosome 9, 101980707: 101980707
10 ALG2 NM_033087.3(ALG2): c.760T> C (p.Leu254=) single nucleotide variant Conflicting interpretations of pathogenicity rs62562374 GRCh38 Chromosome 9, 99218425: 99218425
11 ALG2 NM_033087.3(ALG2): c.17G> C (p.Gly6Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs180849348 GRCh37 Chromosome 9, 101984160: 101984160
12 ALG2 NM_033087.3(ALG2): c.17G> C (p.Gly6Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs180849348 GRCh38 Chromosome 9, 99221878: 99221878
13 ALG2 NM_033087.3(ALG2): c.84C> G (p.Gly28=) single nucleotide variant Benign/Likely benign rs61744789 GRCh37 Chromosome 9, 101984093: 101984093
14 ALG2 NM_033087.3(ALG2): c.84C> G (p.Gly28=) single nucleotide variant Benign/Likely benign rs61744789 GRCh38 Chromosome 9, 99221811: 99221811
15 COG7 NM_153603.3(COG7): c.323dupT (p.Leu108Phefs) duplication Pathogenic rs797044712 GRCh37 Chromosome 16, 23456481: 23456481
16 COG7 NM_153603.3(COG7): c.323dupT (p.Leu108Phefs) duplication Pathogenic rs797044712 GRCh38 Chromosome 16, 23445160: 23445160
17 CCDC115 NM_032357.3(CCDC115): c.31G> T (p.Asp11Tyr) single nucleotide variant Pathogenic rs869025583 GRCh38 Chromosome 2, 130342095: 130342095
18 CCDC115 NM_032357.3(CCDC115): c.31G> T (p.Asp11Tyr) single nucleotide variant Pathogenic rs869025583 GRCh37 Chromosome 2, 131099668: 131099668
19 TMEM199 NM_152464.2(TMEM199): c.92G> C (p.Arg31Pro) single nucleotide variant Pathogenic rs782531869 GRCh38 Chromosome 17, 28357762: 28357762
20 TMEM199 NM_152464.2(TMEM199): c.92G> C (p.Arg31Pro) single nucleotide variant Pathogenic rs782531869 GRCh37 Chromosome 17, 26684785: 26684785
21 TMEM199 NM_152464.2(TMEM199): c.20C> A (p.Ala7Glu) single nucleotide variant Pathogenic rs369488804 GRCh38 Chromosome 17, 28357690: 28357690
22 TMEM199 NM_152464.2(TMEM199): c.20C> A (p.Ala7Glu) single nucleotide variant Pathogenic rs369488804 GRCh37 Chromosome 17, 26684713: 26684713
23 CCDC115 NM_032357.3(CCDC115): c.92T> C (p.Leu31Ser) single nucleotide variant Pathogenic rs751325113 GRCh37 Chromosome 2, 131099607: 131099607
24 CCDC115 NM_032357.3(CCDC115): c.92T> C (p.Leu31Ser) single nucleotide variant Pathogenic rs751325113 GRCh38 Chromosome 2, 130342034: 130342034
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 GRCh37 Chromosome 9, 101980293: 101980293
32 ALG2 NM_033087.3(ALG2): c.1174G> A (p.Ala392Thr) single nucleotide variant Uncertain significance rs138258236 GRCh38 Chromosome 9, 99218011: 99218011
33 ALG2 NM_033087.3(ALG2): c.159C> T (p.His53=) single nucleotide variant Conflicting interpretations of pathogenicity rs527683080 GRCh37 Chromosome 9, 101984018: 101984018
34 ALG2 NM_033087.3(ALG2): c.159C> T (p.His53=) single nucleotide variant Conflicting interpretations of pathogenicity rs527683080 GRCh38 Chromosome 9, 99221736: 99221736
35 ALG2 NM_033087.3(ALG2): c.1A> G (p.Met1Val) single nucleotide variant Uncertain significance rs750172644 GRCh37 Chromosome 9, 101984176: 101984176
36 ALG2 NM_033087.3(ALG2): c.1A> G (p.Met1Val) single nucleotide variant Uncertain significance rs750172644 GRCh38 Chromosome 9, 99221894: 99221894
37 ALG2 NM_033087.3(ALG2): c.304C> T (p.Leu102=) single nucleotide variant Conflicting interpretations of pathogenicity rs749236548 GRCh37 Chromosome 9, 101983873: 101983873
38 ALG2 NM_033087.3(ALG2): c.304C> T (p.Leu102=) single nucleotide variant Conflicting interpretations of pathogenicity rs749236548 GRCh38 Chromosome 9, 99221591: 99221591
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 GRCh37 Chromosome 9, 101984010: 101984010
42 ALG2 NM_033087.3(ALG2): c.167C> T (p.Pro56Leu) single nucleotide variant Benign rs201959100 GRCh38 Chromosome 9, 99221728: 99221728
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 GRCh37 Chromosome 9, 101980411: 101980412
46 ALG2 NM_033087.3(ALG2): c.1055_1056delCCinsTGA (p.Ser352Leufs) indel Uncertain significance 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:

37
# Name Kegg Source Accession
1 N-Glycan biosynthesis hsa00510

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 ATP7A COG1 COG4 COG5 COG7 COG8
2 Golgi membrane GO:0000139 9.87 COG1 COG4 COG5 COG7 COG8 MGAT2
3 trans-Golgi network membrane GO:0032588 9.43 COG1 COG4 COG5 COG7 COG8 TMEM165
4 vacuolar proton-transporting V-type ATPase complex GO:0016471 9.33 ATP6V0A2 CCDC115 TMEM199
5 Golgi transport complex GO:0017119 9.1 COG1 COG4 COG5 COG7 COG8 ENSG00000260371
6 membrane GO:0016020 10.27 ALG2 ATP6V0A2 ATP7A CCDC115 COG1 COG4

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 protein transport GO:0015031 9.91 COG1 COG4 COG5 COG7 COG8
2 protein glycosylation GO:0006486 9.71 ALG2 COG7 MGAT2 PMM2
3 Golgi organization GO:0007030 9.67 COG1 COG4 COG7
4 ER to Golgi vesicle-mediated transport GO:0006888 9.65 COG1 COG4 COG5 COG7 COG8
5 triglyceride catabolic process GO:0019433 9.52 APOC3 LIPE
6 intra-Golgi vesicle-mediated transport GO:0006891 9.5 COG1 COG5 COG8
7 oligosaccharide metabolic process GO:0009311 9.48 MGAT2 MOGS
8 cellular response to iron ion GO:0071281 9.46 ATP7A TF
9 cellular iron ion homeostasis GO:0006879 9.46 ATP6V0A2 CCDC115 TF TMEM199
10 lysosomal lumen acidification GO:0007042 9.43 CCDC115 TMEM199
11 lysosomal protein catabolic process GO:1905146 9.37 CCDC115 TMEM199
12 protein N-linked glycosylation GO:0006487 9.26 MGAT2 MOGS PMM2 TMEM165
13 cellular response to increased oxygen levels GO:0036295 8.8 ATP6V0A2 CCDC115 TMEM199

Sources for Congenital Disorder of Glycosylation, Type Ii

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7 CNVD
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10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
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34 ICD10 via Orphanet
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58 OMIM via Orphanet
62 PubMed
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69 SNOMED-CT via HPO
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71 TGDB
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74 UMLS via Orphanet
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