CDG1L
MCID: CNG198
MIFTS: 43

Congenital Disorder of Glycosylation, Type Il (CDG1L)

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, Smell/Taste diseases

Aliases & Classifications for Congenital Disorder of Glycosylation, Type Il

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

Name: Congenital Disorder of Glycosylation, Type Il 56 13
Congenital Disorder of Glycosylation Il 12 15
Congenital Disorder of Glycosylation 1l 12 73
Cdg Il 56 73
Cdg1l 56 73
Cdgil 56 73
Glycosylation, Congenital Disorder of, Type Il 39
Congenital Disorder of Glycosylation Type Il 73
Congenital Disorder of Glycosylation Type 1l 71
Cdg Il; Cdgil 56
Cdg-Il 73

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
variable phenotype
onset at birth or in early infancy


HPO:

31
congenital disorder of glycosylation, type il:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Congenital Disorder of Glycosylation, Type Il

UniProtKB/Swiss-Prot : 73 Congenital disorder of glycosylation 1L: 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.

MalaCards based summary : Congenital Disorder of Glycosylation, Type Il, also known as congenital disorder of glycosylation il, is related to congenital disorder of glycosylation, type in and congenital disorder of glycosylation, type iig. An important gene associated with Congenital Disorder of Glycosylation, Type Il is ALG9 (ALG9 Alpha-1,2-Mannosyltransferase), and among its related pathways/superpathways is Cell cycle_Chromosome condensation in prometaphase. Affiliated tissues include bone, kidney and brain, and related phenotypes are abnormal facial shape and intellectual disability

Disease Ontology : 12 A congenital disorder of glycosylation I that is characterized by progressive microcephaly, hypotonia, developmental delay, drug-resistant infantile epilepsy, and hepatomegaly and has material basis in homozygous mutation in the ALG9 gene on chromosome 11q23.

OMIM : 56 Congenital disorders of glycosylation (CDGs) that represent defects of dolichol-linked oligosaccharide assembly are classified as CDG type I. For a general description and a discussion of the classification of CDGs, see CDG1A (212065). (608776)

Related Diseases for Congenital Disorder of Glycosylation, Type Il

Diseases in the Disorder of Multiple Glycosylation 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 Iir 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 Congenital Disorder of Glycosylation, Type Iit

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

(show top 50) (show all 54)
# Related Disease Score Top Affiliating Genes
1 congenital disorder of glycosylation, type in 30.0 IGF2R ATP6V0A2 ALG9 ALG12
2 congenital disorder of glycosylation, type iig 10.4 ALG9 ALG12
3 hemopericardium 10.2
4 pericardial effusion 10.2
5 immunodeficiency 47 10.1 ATP6V0A2 ALG9 ALG12
6 adult brain stem glioma 10.1 H3-3B H3-3A
7 congenital disorder of glycosylation, type ie 10.1 IGF2R ALG12
8 bone giant cell sarcoma 10.1 H3-3B H3-3A
9 malignant giant cell tumor 10.1 H3-3B H3-3A
10 spinal cord astrocytoma 10.1 H3-3B H3-3A
11 pneumoconiosis due to talc 10.1 H3-3B H3-3A
12 mental retardation, autosomal dominant 56 10.1 H3-3B H3-3A
13 congenital disorders of n-linked glycosylation and multiple pathway 10.0
14 hypotonia 10.0
15 clear cell chondrosarcoma 10.0 H3-3B H3-3A
16 spinal cord glioma 10.0 H3-3B H3-3A
17 mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome 10.0
18 monocular esotropia 10.0
19 esotropia 10.0
20 childhood brain stem glioma 9.9 H3-3B H3-3A
21 glioblastoma neural subtype 9.9 RPS3A PSMD4
22 localized pulmonary fibrosis 9.9 PSMD5 PSMD4
23 brain stem cancer 9.9 H3-3B H3-3A
24 ciliary dyskinesia, primary, 10 9.8 PSMD5 PSMD4
25 retinitis pigmentosa 61 9.8 PSMD5 PSMD4
26 ciliary dyskinesia, primary, 9 9.8 PSMD5 PSMD4
27 cardiomyopathy, dilated, 1c, with or without left ventricular noncompaction 9.8 PSMD5 PSMD4
28 fibrillary astrocytoma 9.7 H3-3B H3-3A
29 bone giant cell tumor 9.6 H3-3B H3-3A
30 ophthalmia nodosa 9.5 RPS3A PSMD5 PSMD4
31 myasthenic syndrome, congenital, 21, presynaptic 9.5 RPS3A PSMD5 PSMD4
32 kunjin encephalitis 9.5 HUWE1 H3-3B H3-3A
33 amelogenesis imperfecta, type if 9.5 HUWE1 H3-3B H3-3A
34 amelogenesis imperfecta, type ia 9.5 HUWE1 H3-3B H3-3A
35 neurodegeneration with brain iron accumulation 6 9.5 HUWE1 H3-3B H3-3A
36 actinomycosis 9.5 HUWE1 H3-3B H3-3A
37 retinitis pigmentosa 23 9.5 RPS3A PSMD5 PSMD4
38 hypotrichosis 2 9.5 HUWE1 H3-3B H3-3A
39 mulibrey nanism 9.5 HUWE1 H3-3B H3-3A
40 griscelli syndrome, type 2 9.5 HUWE1 H3-3B H3-3A
41 wilson-turner x-linked mental retardation syndrome 9.5 RPS3A PSMD5 PSMD4
42 stuttering 9.5 HUWE1 H3-3B H3-3A
43 diffuse idiopathic skeletal hyperostosis 9.5 RPS3A HUWE1
44 metachromatic leukodystrophy 9.4 RPS3A IGF2R HUWE1
45 retinitis pigmentosa 49 9.4 RPS3A PSMD5 HUWE1
46 suppression of tumorigenicity 12 9.4 RPS3A PSMD5 PSMD4
47 griscelli syndrome, type 3 9.3 RPS3A PSMD4 HUWE1
48 autosomal genetic disease 9.1 RPS3A PSMD4 HUWE1
49 kaufman oculocerebrofacial syndrome 8.9 RPS3A PSMD5 PSMD4 HUWE1
50 kagami-ogata syndrome 8.9 RPS3A PSMD5 PSMD4 HUWE1

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



Diseases related to Congenital Disorder of Glycosylation, Type Il

Symptoms & Phenotypes for Congenital Disorder of Glycosylation, Type Il

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

31 (show all 37)
# Description HPO Frequency HPO Source Accession
1 abnormal facial shape 31 very rare (1%) HP:0001999
2 intellectual disability 31 HP:0001249
3 global developmental delay 31 HP:0001263
4 hepatomegaly 31 HP:0002240
5 skeletal dysplasia 31 HP:0002652
6 delayed skeletal maturation 31 HP:0002750
7 depressed nasal bridge 31 HP:0005280
8 hypertelorism 31 HP:0000316
9 short neck 31 HP:0000470
10 kyphosis 31 HP:0002808
11 short nose 31 HP:0003196
12 microcephaly 31 HP:0000252
13 failure to thrive 31 HP:0001508
14 brachycephaly 31 HP:0000248
15 edema 31 HP:0000969
16 frontal bossing 31 HP:0002007
17 hyperreflexia 31 HP:0001347
18 ascites 31 HP:0001541
19 wide intermamillary distance 31 HP:0006610
20 low-set ears 31 HP:0000369
21 inverted nipples 31 HP:0003186
22 wide mouth 31 HP:0000154
23 abnormal cardiac septum morphology 31 HP:0001671
24 long philtrum 31 HP:0000343
25 hip dislocation 31 HP:0002827
26 polycystic kidney dysplasia 31 HP:0000113
27 decreased fetal movement 31 HP:0001558
28 cerebellar atrophy 31 HP:0001272
29 generalized hypotonia 31 HP:0001290
30 hepatosplenomegaly 31 HP:0001433
31 pericardial effusion 31 HP:0001698
32 poor speech 31 HP:0002465
33 esotropia 31 HP:0000565
34 epileptic encephalopathy 31 HP:0200134
35 global brain atrophy 31 HP:0002283
36 delayed cns myelination 31 HP:0002188
37 seizure 31 HP:0001250

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
intellectual disability
hyperreflexia
cerebellar atrophy
poor speech
epileptic encephalopathy
more
Skeletal:
skeletal dysplasia
delayed bone age

Head And Neck Eyes:
hypertelorism
esotropia

Skeletal Spine:
kyphosis

Growth Other:
failure to thrive

Head And Neck Ears:
low-set ears

Head And Neck Face:
long philtrum
dysmorphic facial features, variable (in some patients)

Cardiovascular Heart:
pericardial effusion
septal defects
congenital heart disease

Head And Neck Mouth:
large mouth

Skeletal Limbs:
brachymelia

Laboratory Abnormalities:
hypoglycosylation of serum transferrin, consistent with cdg type i
defective lipid-linked oligosaccharide (llo) assembly

Abdomen Liver:
hepatomegaly

Head And Neck Nose:
depressed nasal bridge
short nose

Head And Neck Neck:
short neck

Head And Neck Head:
microcephaly
frontal bossing

Skeletal Skull:
brachycephaly
thickened skull bones

Chest Breasts:
inverted nipples
widely spaced nipples

Skeletal Pelvis:
hip dislocation

Muscle Soft Tissue:
hypotonia
ascites (1 patient with nonimmune hydrops fetalis)
edema (1 patient with nonimmune hydrops fetalis)

Prenatal Manifestations Movement:
decreased fetal movements

Genitourinary Kidneys:
polycystic kidneys (uncommon)

Clinical features from OMIM:

608776

Drugs & Therapeutics for Congenital Disorder of Glycosylation, Type Il

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

Genetic Tests for Congenital Disorder of Glycosylation, Type Il

Anatomical Context for Congenital Disorder of Glycosylation, Type Il

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

40
Bone, Kidney, Brain, Heart

Publications for Congenital Disorder of Glycosylation, Type Il

Articles related to Congenital Disorder of Glycosylation, Type Il:

# Title Authors PMID Year
1
CDG-IL: an infant with a novel mutation in the ALG9 gene and additional phenotypic features. 56 6 61
15945070 2005
2
Identification and functional analysis of a defect in the human ALG9 gene: definition of congenital disorder of glycosylation type IL. 56 6 61
15148656 2004
3
Further Delineation of the ALG9-CDG Phenotype. 56 6
26453364 2016
4
Congenital Disorders of N-Linked Glycosylation and Multiple Pathway Overview 6
20301507 2005
5
Mass spectrometric analysis of neutral and anionic N-glycans from a Dictyostelium discoideum model for human congenital disorder of glycosylation CDG IL. 61
23320427 2013

Variations for Congenital Disorder of Glycosylation, Type Il

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

6 (show top 50) (show all 120) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ALG9 ALG9, GLU359LYSSNV Pathogenic 488404
2 ATP6V0A2 NM_012463.4(ATP6V0A2):c.1062dup (p.Ser355fs)duplication Pathogenic 840755 12:124228351-124228352 12:123743804-123743805
3 ALG9 NM_024740.2(ALG9):c.1588G>A (p.Glu530Lys)SNV Pathogenic 3748 rs121908022 11:111706902-111706902 11:111836179-111836179
4 ALG9 NM_024740.2(ALG9):c.860A>G (p.Tyr287Cys)SNV Pathogenic 3749 rs121908023 11:111724138-111724138 11:111853415-111853415
5 ATP6V0A2 NM_012463.4(ATP6V0A2):c.78dup (p.Ser27fs)duplication Pathogenic 286400 rs745590426 12:124197189-124197190 12:123712642-123712643
6 ATP6V0A2 NM_012463.4(ATP6V0A2):c.1486G>A (p.Ala496Thr)SNV Conflicting interpretations of pathogenicity 166708 rs143142641 12:124229303-124229303 12:123744756-123744756
7 ATP6V0A2 NM_012463.4(ATP6V0A2):c.2229T>C (p.Cys743=)SNV Conflicting interpretations of pathogenicity 194862 rs150508296 12:124239020-124239020 12:123754473-123754473
8 ATP6V0A2 NM_012463.4(ATP6V0A2):c.2238C>T (p.Cys746=)SNV Conflicting interpretations of pathogenicity 210384 rs138886791 12:124239029-124239029 12:123754482-123754482
9 ATP6V0A2 NM_012463.4(ATP6V0A2):c.1258G>T (p.Val420Leu)SNV Conflicting interpretations of pathogenicity 95518 rs138716143 12:124228816-124228816 12:123744269-123744269
10 ATP6V0A2 NM_012463.4(ATP6V0A2):c.2014T>C (p.Leu672=)SNV Conflicting interpretations of pathogenicity 307594 rs367950442 12:124235735-124235735 12:123751188-123751188
11 ATP6V0A2 NM_012463.4(ATP6V0A2):c.264G>T (p.Ala88=)SNV Conflicting interpretations of pathogenicity 498312 rs139785866 12:124206965-124206965 12:123722418-123722418
12 ATP6V0A2 NM_012463.4(ATP6V0A2):c.840C>T (p.Thr280=)SNV Conflicting interpretations of pathogenicity 593265 rs139680786 12:124221620-124221620 12:123737073-123737073
13 ATP6V0A2 NM_012463.4(ATP6V0A2):c.1521C>T (p.Ser507=)SNV Conflicting interpretations of pathogenicity 286114 rs142454880 12:124229435-124229435 12:123744888-123744888
14 ATP6V0A2 NM_012463.4(ATP6V0A2):c.614C>T (p.Ala205Val)SNV Conflicting interpretations of pathogenicity 307580 rs143802431 12:124212422-124212422 12:123727875-123727875
15 ALG9 NM_024740.2(ALG9):c.1659C>T (p.Pro553=)SNV Conflicting interpretations of pathogenicity 374733 rs2276263 11:111680441-111680441 11:111809717-111809717
16 ALG9 NM_024740.2(ALG9):c.896-3C>TSNV Conflicting interpretations of pathogenicity 383735 rs782063335 11:111715449-111715449 11:111844726-111844726
17 ALG9 NM_024740.2(ALG9):c.1383C>T (p.Thr461=)SNV Conflicting interpretations of pathogenicity 380142 rs45516107 11:111708280-111708280 11:111837557-111837557
18 ATP6V0A2 NM_012463.4(ATP6V0A2):c.515A>G (p.Lys172Arg)SNV Uncertain significance 392359 rs142935490 12:124210826-124210826 12:123726279-123726279
19 ALG9 NM_024740.2(ALG9):c.*2233A>GSNV Uncertain significance 302393 rs886047674 11:111654888-111654888 11:111784164-111784164
20 ALG9 NM_024740.2(ALG9):c.*2230A>CSNV Uncertain significance 302394 rs116530919 11:111654891-111654891 11:111784167-111784167
21 ALG9 NM_024740.2(ALG9):c.*1977A>GSNV Uncertain significance 302397 rs181231005 11:111655144-111655144 11:111784420-111784420
22 ALG9 NM_024740.2(ALG9):c.*906C>ASNV Uncertain significance 302414 rs147670080 11:111656215-111656215 11:111785491-111785491
23 ALG9 NM_024740.2(ALG9):c.*823A>GSNV Uncertain significance 302415 rs528387467 11:111656298-111656298 11:111785574-111785574
24 ALG9 NM_024740.2(ALG9):c.*773A>GSNV Uncertain significance 302417 rs886047679 11:111656348-111656348 11:111785624-111785624
25 ALG9 NM_024740.2(ALG9):c.*763T>CSNV Uncertain significance 302418 rs886047680 11:111656358-111656358 11:111785634-111785634
26 ALG9 NM_024740.2(ALG9):c.*532C>TSNV Uncertain significance 302419 rs886047681 11:111656589-111656589 11:111785865-111785865
27 ALG9 NM_024740.2(ALG9):c.-30G>ASNV Uncertain significance 302426 rs886047685 11:111742236-111742236 11:111871512-111871512
28 ALG9 NM_024740.2(ALG9):c.*3212C>TSNV Uncertain significance 302373 rs528920657 11:111653909-111653909 11:111783185-111783185
29 ALG9 NM_024740.2(ALG9):c.*3079C>TSNV Uncertain significance 302375 rs886047660 11:111654042-111654042 11:111783318-111783318
30 ALG9 NM_024740.2(ALG9):c.*2592T>CSNV Uncertain significance 302378 rs886047661 11:111654529-111654529 11:111783805-111783805
31 ALG9 NM_024740.2(ALG9):c.*2339T>GSNV Uncertain significance 302392 rs886047673 11:111654782-111654782 11:111784058-111784058
32 ALG9 NM_024740.2(ALG9):c.*1687A>TSNV Uncertain significance 302401 rs367569393 11:111655434-111655434 11:111784710-111784710
33 ALG9 NM_024740.2(ALG9):c.*1607C>TSNV Uncertain significance 302407 rs117488631 11:111655514-111655514 11:111784790-111784790
34 ALG9 NM_024740.2(ALG9):c.*1420C>GSNV Uncertain significance 302409 rs143933458 11:111655701-111655701 11:111784977-111784977
35 ALG9 NM_024740.2(ALG9):c.*788A>GSNV Uncertain significance 302416 rs559698025 11:111656333-111656333 11:111785609-111785609
36 ALG9 NM_024740.2(ALG9):c.*523T>CSNV Uncertain significance 302420 rs536072357 11:111656598-111656598 11:111785874-111785874
37 ALG9 NM_024740.2(ALG9):c.*365A>GSNV Uncertain significance 302421 rs886047682 11:111656756-111656756 11:111786032-111786032
38 ALG9 NM_024740.2(ALG9):c.1399G>A (p.Glu467Lys)SNV Uncertain significance 660397 11:111708264-111708264 11:111837541-111837541
39 ATP6V0A2 NM_012463.4(ATP6V0A2):c.745G>A (p.Val249Met)SNV Uncertain significance 661517 12:124220091-124220091 12:123735544-123735544
40 ALG9 NM_024740.2(ALG9):c.1780C>T (p.Gln594Ter)SNV Uncertain significance 523889 rs1555064204 11:111657198-111657198 11:111786474-111786474
41 ALG9 NM_024740.2(ALG9):c.129C>T (p.Thr43=)SNV Uncertain significance 538564 rs1311317470 11:111742077-111742077 11:111871354-111871354
42 ATP6V0A2 NM_012463.4(ATP6V0A2):c.2339G>A (p.Arg780His)SNV Uncertain significance 533136 rs774276857 12:124241407-124241407 12:123756860-123756860
43 ALG9 NM_024740.2(ALG9):c.98G>A (p.Ser33Asn)SNV Uncertain significance 841594 11:111742108-111742108 11:111871385-111871385
44 ATP6V0A2 NM_012463.4(ATP6V0A2):c.652G>C (p.Glu218Gln)SNV Uncertain significance 863749 12:124218476-124218476 12:123733929-123733929
45 ATP6V0A2 NM_012463.4(ATP6V0A2):c.2554G>A (p.Asp852Asn)SNV Uncertain significance 859353 12:124242562-124242562 12:123758015-123758015
46 ALG9 NM_024740.2(ALG9):c.*3798A>GSNV Uncertain significance 880091 11:111653323-111653323 11:111782599-111782599
47 ALG9 NM_024740.2(ALG9):c.*3757T>CSNV Uncertain significance 880092 11:111653364-111653364 11:111782640-111782640
48 ALG9 NM_024740.2(ALG9):c.*1311A>GSNV Uncertain significance 877346 11:111655810-111655810 11:111785086-111785086
49 ALG9 NM_024740.2(ALG9):c.*1297A>GSNV Uncertain significance 877347 11:111655824-111655824 11:111785100-111785100
50 ALG9 NM_024740.2(ALG9):c.*726C>GSNV Uncertain significance 878370 11:111656395-111656395 11:111785671-111785671

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

73
# Symbol AA change Variation ID SNP ID
1 ALG9 p.Tyr287Cys VAR_023410 rs121908023
2 ALG9 p.Glu523Lys VAR_023413 rs121908022

Expression for Congenital Disorder of Glycosylation, Type Il

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

Pathways for Congenital Disorder of Glycosylation, Type Il

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

# Super pathways Score Top Affiliating Genes
1 10.14 H3-3B H3-3A

GO Terms for Congenital Disorder of Glycosylation, Type Il

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

# Name GO ID Score Top Affiliating Genes
1 extracellular exosome GO:0070062 9.8 RPS3A IGF2R HUWE1 H3-3B H3-3A GARS1
2 proteasome accessory complex GO:0022624 9.16 PSMD5 PSMD4
3 proteasome regulatory particle, base subcomplex GO:0008540 8.96 PSMD5 PSMD4
4 Barr body GO:0001740 8.62 H3-3B H3-3A

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 proteasome-mediated ubiquitin-dependent protein catabolic process GO:0043161 9.69 PSMD5 PSMD4 HUWE1
2 nucleus organization GO:0006997 9.49 H3-3B H3-3A
3 telomere organization GO:0032200 9.48 H3-3B H3-3A
4 DNA replication-independent nucleosome assembly GO:0006336 9.46 H3-3B H3-3A
5 mannosylation GO:0097502 9.43 ALG9 ALG12
6 muscle cell differentiation GO:0042692 9.4 H3-3B H3-3A
7 dolichol-linked oligosaccharide biosynthetic process GO:0006488 9.37 ALG9 ALG12
8 proteasome assembly GO:0043248 9.32 PSMD5 PSMD4
9 pericentric heterochromatin assembly GO:0031508 9.26 H3-3B H3-3A
10 regulation of centromere complex assembly GO:0090230 9.16 H3-3B H3-3A
11 negative regulation of chromosome condensation GO:1902340 8.96 H3-3B H3-3A
12 telomeric heterochromatin assembly GO:0031509 8.62 H3-3B H3-3A

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

# Name GO ID Score Top Affiliating Genes
1 RNA polymerase II core promoter sequence-specific DNA binding GO:0000979 8.96 H3-3B H3-3A
2 mannosyltransferase activity GO:0000030 8.62 ALG9 ALG12

Sources for Congenital Disorder of Glycosylation, Type Il

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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