MCID: CNG557
MIFTS: 33

Congenital Muscular Dystrophy-Dystroglycanopathy Type A2

Categories: Eye diseases, Fetal diseases, Genetic diseases, Mental diseases, Metabolic diseases, Muscle diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Congenital Muscular Dystrophy-Dystroglycanopathy Type A2

MalaCards integrated aliases for Congenital Muscular Dystrophy-Dystroglycanopathy Type A2:

Name: Congenital Muscular Dystrophy-Dystroglycanopathy Type A2 12 15
Congenital Muscular Dystrophy-Dystroglycanopathy with Brain and Eye Anomalies, Type A2 29 6
Congenital Muscular Dystrophy-Dystroglycanopathy with Brain and Eye Anomalies Type A2 12
Walker-Warburg Syndrome or Muscle-Eye-Brain Disease, Pomt2-Related 12
Mddga2 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0111240

Summaries for Congenital Muscular Dystrophy-Dystroglycanopathy Type A2

Disease Ontology : 12 A congenital muscular dystrophy-dystroglycanopathy type A that has material basis in homozygous or compound heterozygous mutation in POMT2 on 14q24.3.

MalaCards based summary : Congenital Muscular Dystrophy-Dystroglycanopathy Type A2, also known as congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type a2, is related to muscular dystrophy-dystroglycanopathy , type a, 2 and congenital muscular dystrophy with intellectual disability. An important gene associated with Congenital Muscular Dystrophy-Dystroglycanopathy Type A2 is POMT2 (Protein O-Mannosyltransferase 2), and among its related pathways/superpathways are Metabolism and Metabolism of proteins. Affiliated tissues include eye and brain.

Related Diseases for Congenital Muscular Dystrophy-Dystroglycanopathy Type A2

Diseases in the Muscular Dystrophy-Dystroglycanopathy family:

Muscular Dystrophy-Dystroglycanopathy , Type a, 1 Muscular Dystrophy-Dystroglycanopathy , Type a, 3
Muscular Dystrophy-Dystroglycanopathy , Type a, 4 Muscular Dystrophy-Dystroglycanopathy , Type B, 5
Muscular Dystrophy-Dystroglycanopathy , Type C, 5 Muscular Dystrophy-Dystroglycanopathy , Type B, 6
Muscular Dystrophy-Dystroglycanopathy , Type C, 1 Muscular Dystrophy-Dystroglycanopathy , Type C, 4
Muscular Dystrophy-Dystroglycanopathy , Type C, 15 Muscular Dystrophy-Dystroglycanopathy , Type a, 2
Muscular Dystrophy-Dystroglycanopathy , Type B, 3 Muscular Dystrophy-Dystroglycanopathy , Type B, 4
Muscular Dystrophy-Dystroglycanopathy , Type a, 5 Muscular Dystrophy-Dystroglycanopathy , Type a, 6
Muscular Dystrophy-Dystroglycanopathy , Type B, 1 Muscular Dystrophy-Dystroglycanopathy , Type B, 2
Muscular Dystrophy-Dystroglycanopathy , Type C, 3 Muscular Dystrophy-Dystroglycanopathy , Type C, 2
Muscular Dystrophy-Dystroglycanopathy , Type C, 9 Muscular Dystrophy-Dystroglycanopathy , Type a, 7
Muscular Dystrophy-Dystroglycanopathy , Type a, 8 Muscular Dystrophy-Dystroglycanopathy , Type a, 10
Muscular Dystrophy-Dystroglycanopathy , Type a, 11 Muscular Dystrophy-Dystroglycanopathy , Type a, 12
Muscular Dystrophy-Dystroglycanopathy , Type a, 13 Muscular Dystrophy-Dystroglycanopathy , Type a, 14
Muscular Dystrophy-Dystroglycanopathy , Type B, 14 Muscular Dystrophy-Dystroglycanopathy , Type C, 14
Muscular Dystrophy-Dystroglycanopathy , Type C, 7 Muscular Dystrophy-Dystroglycanopathy , Type C, 12
Muscular Dystrophy-Dystroglycanopathy , Type a, 9 Muscular Dystrophy-Dystroglycanopathy , Type C, 8
Muscular Dystrophy-Dystroglycanopathy , Type B, 15 Congenital Muscular Dystrophy-Dystroglycanopathy Type a
Congenital Muscular Dystrophy-Dystroglycanopathy Type A11 Congenital Muscular Dystrophy-Dystroglycanopathy Type A8
Congenital Muscular Dystrophy-Dystroglycanopathy Type A9 Congenital Muscular Dystrophy-Dystroglycanopathy A14
Congenital Muscular Dystrophy-Dystroglycanopathy A7 Congenital Muscular Dystrophy-Dystroglycanopathy Type A12
Congenital Muscular Dystrophy-Dystroglycanopathy Type A3 Congenital Muscular Dystrophy-Dystroglycanopathy Type A1
Congenital Muscular Dystrophy-Dystroglycanopathy Type A13 Congenital Muscular Dystrophy-Dystroglycanopathy Type A10
Congenital Muscular Dystrophy-Dystroglycanopathy Type A2 Congenital Muscular Dystrophy-Dystroglycanopathy Type A5
Congenital Muscular Dystrophy-Dystroglycanopathy Type A6

Diseases related to Congenital Muscular Dystrophy-Dystroglycanopathy Type A2 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 45)
# Related Disease Score Top Affiliating Genes
1 muscular dystrophy-dystroglycanopathy , type a, 2 11.2
2 congenital muscular dystrophy with intellectual disability 10.1 POMT2 POMT1
3 congenital muscular dystrophy with cerebellar involvement 10.1 POMT2 POMT1
4 autosomal recessive limb-girdle muscular dystrophy type 2l 10.1 POMT2 POMT1
5 retinal lattice degeneration 10.1 POMT2 POMT1
6 cardiomyopathy, dilated, 1d 10.1 POMT2 POMT1
7 cobblestone lissencephaly 10.1 POMT2 POMT1
8 muscular dystrophy, congenital merosin-deficient, 1a 10.1 POMT2 POMT1
9 epidermolysis bullosa simplex with mottled pigmentation 10.1 POMT2 POMT1
10 adermatoglyphia 10.1 POMT2 POMT1
11 muscular dystrophy-dystroglycanopathy , type c, 5 10.0 POMT2 POMT1
12 muscle eye brain disease 10.0 POMT2 POMT1
13 congenital disorders of n-linked glycosylation and multiple pathway 10.0 ALG6 ALG2
14 bethlem myopathy 1 10.0 POMT2 POMT1
15 congenital disorder of glycosylation, type iih 10.0 ALG6 ALG2
16 congenital nervous system abnormality 10.0 POMT2 POMT1
17 congenital disorder of glycosylation, type iik 10.0 ALG6 ALG2
18 multiple congenital anomalies-hypotonia-seizures syndrome 1 10.0 PIGV PIGL
19 multiple congenital anomalies-hypotonia-seizures syndrome 10.0 PIGV PIGL
20 congenital disorder of glycosylation, type iii 9.9 ALG6 ALG2
21 multiple congenital anomalies-hypotonia-seizures syndrome 2 9.9 PIGV PIGL
22 muscle tissue disease 9.9 POMT2 POMT1
23 anterior segment dysgenesis 4 9.9 PIGV PIGL
24 muscular dystrophy-dystroglycanopathy , type a, 1 9.9 POMT2 POMT1
25 hyperphosphatasia-intellectual disability syndrome 9.9 PIGV PIGL
26 congenital disorder of glycosylation, type iig 9.8 DPM3 ALG2
27 muscular dystrophy, limb-girdle, autosomal recessive 2 9.8 POMT2 POMT1
28 congenital muscular dystrophy-dystroglycanopathy type a 9.7 POMT2 POMT1 DPM3
29 muscular dystrophy-dystroglycanopathy 9.7 POMT2 POMT1 DPM3
30 congenital muscular dystrophy-dystroglycanopathy type a1 9.7 POMT2 POMT1 DPM3
31 muscular dystrophy-dystroglycanopathy , type c, 2 9.7 POMT2 POMT1 DPM3
32 hydrophthalmos 9.7 POMT2 POMT1 DPM3
33 muscular dystrophy-dystroglycanopathy , type b, 6 9.7 POMT2 POMT1 DPM3
34 muscular dystrophy-dystroglycanopathy , type c, 1 9.7 POMT2 POMT1 DPM3
35 congenital muscular dystrophy-dystroglycanopathy type a3 9.7 POMT2 POMT1 DPM3
36 muscular dystrophy-dystroglycanopathy , type c, 4 9.7 POMT2 POMT1 DPM3
37 muscular dystrophy-dystroglycanopathy , type b, 5 9.7 POMT2 POMT1 DPM3
38 muscular dystrophy-dystroglycanopathy , type a, 4 9.7 POMT2 POMT1 DPM3
39 muscular dystrophy-dystroglycanopathy , type c, 3 9.7 POMT2 POMT1 DPM3
40 glaucoma 3, primary congenital, a 9.7 POMT2 POMT1 DPM3
41 autosomal recessive limb-girdle muscular dystrophy 9.7 POMT2 POMT1 DPM3
42 congenital disorder of glycosylation, type ie 9.6 DPM3 ALG6 ALG2
43 immunodeficiency 47 9.5 DPM3 ALG6 ALG2
44 walker-warburg syndrome 9.4 POMT2 POMT1 DPM3 ALG2
45 congenital disorder of glycosylation, type in 9.2 POMT2 POMT1 DPM3 ALG6 ALG2

Graphical network of the top 20 diseases related to Congenital Muscular Dystrophy-Dystroglycanopathy Type A2:



Diseases related to Congenital Muscular Dystrophy-Dystroglycanopathy Type A2

Symptoms & Phenotypes for Congenital Muscular Dystrophy-Dystroglycanopathy Type A2

Drugs & Therapeutics for Congenital Muscular Dystrophy-Dystroglycanopathy Type A2

Search Clinical Trials , NIH Clinical Center for Congenital Muscular Dystrophy-Dystroglycanopathy Type A2

Genetic Tests for Congenital Muscular Dystrophy-Dystroglycanopathy Type A2

Genetic tests related to Congenital Muscular Dystrophy-Dystroglycanopathy Type A2:

# Genetic test Affiliating Genes
1 Congenital Muscular Dystrophy-Dystroglycanopathy with Brain and Eye Anomalies, Type A2 29 POMT2

Anatomical Context for Congenital Muscular Dystrophy-Dystroglycanopathy Type A2

MalaCards organs/tissues related to Congenital Muscular Dystrophy-Dystroglycanopathy Type A2:

40
Eye, Brain

Publications for Congenital Muscular Dystrophy-Dystroglycanopathy Type A2

Articles related to Congenital Muscular Dystrophy-Dystroglycanopathy Type A2:

(show all 15)
# Title Authors PMID Year
1
Detection of variants in dystroglycanopathy-associated genes through the application of targeted whole-exome sequencing analysis to a large cohort of patients with unexplained limb-girdle muscle weakness. 6
30060766 2018
2
Noncompaction cardiomyopathy in an infant with Walker-Warburg syndrome. 6
28980384 2017
3
Targeted Re-Sequencing Emulsion PCR Panel for Myopathies: Results in 94 Cases. 6
27854218 2016
4
Prenatal Diagnosis of Walker-Warburg Syndrome Using Single Nucleotide Polymorphism Array: A Clinical Experience from Three Related Palestinian Families with Congenital Hydrocephalus. 6
26495167 2015
5
Novel cardiovascular findings in association with a POMT2 mutation: three siblings with α-dystroglycanopathy. 6
24002165 2014
6
Cobblestone lissencephaly: neuropathological subtypes and correlations with genes of dystroglycanopathies. 6
22323514 2012
7
POMT2 intragenic deletions and splicing abnormalities causing congenital muscular dystrophy with mental retardation. 6
19138766 2009
8
Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study. 6
19299310 2009
9
Ethnically diverse causes of Walker-Warburg syndrome (WWS): FCMD mutations are a more common cause of WWS outside of the Middle East. 6
18752264 2008
10
Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan. 6
17878207 2007
11
Molecular heterogeneity in fetal forms of type II lissencephaly. 6
17559086 2007
12
IL-20 is an arteriogenic cytokine that remodels collateral networks and improves functions of ischemic hind limbs. 6
17878297 2007
13
New POMT2 mutations causing congenital muscular dystrophy: identification of a founder mutation. 6
17634419 2007
14
POMT2 mutation in a patient with 'MEB-like' phenotype. 6
16701995 2006
15
POMT2 mutations cause alpha-dystroglycan hypoglycosylation and Walker-Warburg syndrome. 6
15894594 2005

Variations for Congenital Muscular Dystrophy-Dystroglycanopathy Type A2

ClinVar genetic disease variations for Congenital Muscular Dystrophy-Dystroglycanopathy Type A2:

6 (show top 50) (show all 226)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 POMT2 NM_013382.5(POMT2):c.1261del (p.Arg421fs) Deletion Pathogenic 3220 rs587777815 GRCh37: 14:77753158-77753158
GRCh38: 14:77286815-77286815
2 POMT2 NM_013382.5(POMT2):c.1117G>T (p.Val373Phe) SNV Pathogenic 3226 rs267606965 GRCh37: 14:77757723-77757723
GRCh38: 14:77291380-77291380
3 POMT2 POMT2, IVS12AS, G-A, -14 SNV Pathogenic 3235 GRCh37:
GRCh38:
4 POMT2 NM_013382.5(POMT2):c.1445G>T (p.Gly482Val) SNV Pathogenic 3236 rs267606968 GRCh37: 14:77751863-77751863
GRCh38: 14:77285520-77285520
5 POMT2 NM_013382.5(POMT2):c.1057G>A (p.Gly353Ser) SNV Pathogenic 3231 rs267606970 GRCh37: 14:77762566-77762566
GRCh38: 14:77296223-77296223
6 POMT2 NM_013382.5(POMT2):c.2177G>A (p.Gly726Glu) SNV Pathogenic 3222 rs267606969 GRCh37: 14:77743795-77743795
GRCh38: 14:77277452-77277452
7 POMT2 NM_013382.5(POMT2):c.248+1G>C SNV Pathogenic 579369 rs961440747 GRCh37: 14:77786776-77786776
GRCh38: 14:77320433-77320433
8 POMT2 NM_013382.5(POMT2):c.673del (p.Trp225fs) Deletion Pathogenic 649496 rs1594796439 GRCh37: 14:77767576-77767576
GRCh38: 14:77301233-77301233
9 POMT2 NM_013382.5(POMT2):c.648C>A (p.Cys216Ter) SNV Pathogenic 538730 rs147871747 GRCh37: 14:77769186-77769186
GRCh38: 14:77302843-77302843
10 POMT2 NM_013382.5(POMT2):c.1293dup (p.Met432fs) Duplication Pathogenic 538734 rs1555352706 GRCh37: 14:77753125-77753126
GRCh38: 14:77286782-77286783
11 POMT2 NM_013382.7(POMT2):c.791del (p.Leu264fs) Deletion Pathogenic 938509 GRCh37: 14:77767458-77767458
GRCh38: 14:77301115-77301115
12 POMT2 NM_013382.5(POMT2):c.1912C>T (p.Arg638Ter) SNV Pathogenic 3218 rs119463989 GRCh37: 14:77745192-77745192
GRCh38: 14:77278849-77278849
13 POMT2 NM_013382.5(POMT2):c.1006+1G>A SNV Pathogenic 3219 rs533916138 GRCh37: 14:77765031-77765031
GRCh38: 14:77298688-77298688
14 POMT2 NM_013382.5(POMT2):c.958C>T (p.Gln320Ter) SNV Pathogenic 289683 rs775932206 GRCh37: 14:77765080-77765080
GRCh38: 14:77298737-77298737
15 POMT2 NM_013382.5(POMT2):c.1006+1G>A SNV Pathogenic 3219 rs533916138 GRCh37: 14:77765031-77765031
GRCh38: 14:77298688-77298688
16 POMT2 NM_013382.5(POMT2):c.1123_1124dup (p.Tyr376fs) Duplication Pathogenic 282447 rs886042401 GRCh37: 14:77757715-77757716
GRCh38: 14:77291372-77291373
17 POMT2 NM_013382.5(POMT2):c.924-2A>G SNV Pathogenic 289765 rs886044256 GRCh37: 14:77765116-77765116
GRCh38: 14:77298773-77298773
18 POMT2 NM_013382.5(POMT2):c.1417C>T (p.Arg473Ter) SNV Pathogenic 95535 rs368817785 GRCh37: 14:77751891-77751891
GRCh38: 14:77285548-77285548
19 POMT2 NM_013382.5(POMT2):c.924-2A>C SNV Pathogenic 449378 rs886044256 GRCh37: 14:77765116-77765116
GRCh38: 14:77298773-77298773
20 POMT2 NM_013382.5(POMT2):c.593T>A (p.Ile198Asn) SNV Pathogenic 3227 rs267606972 GRCh37: 14:77769241-77769241
GRCh38: 14:77302898-77302898
21 POMT2 NM_013382.5(POMT2):c.1997A>G (p.Tyr666Cys) SNV Pathogenic 3221 rs200198778 GRCh37: 14:77745107-77745107
GRCh38: 14:77278764-77278764
22 POMT2 NM_013382.5(POMT2):c.1238G>C (p.Arg413Pro) SNV Pathogenic 3225 rs190285831 GRCh37: 14:77755120-77755120
GRCh38: 14:77288777-77288777
23 POMT2 NM_013382.5(POMT2):c.1997A>G (p.Tyr666Cys) SNV Pathogenic 3221 rs200198778 GRCh37: 14:77745107-77745107
GRCh38: 14:77278764-77278764
24 POMT2 NM_013382.5(POMT2):c.1997A>G (p.Tyr666Cys) SNV Pathogenic 3221 rs200198778 GRCh37: 14:77745107-77745107
GRCh38: 14:77278764-77278764
25 POMT2 NM_013382.7(POMT2):c.1976G>A (p.Arg659Gln) SNV Likely pathogenic 1030284 GRCh37: 14:77745128-77745128
GRCh38: 14:77278785-77278785
26 POMT2 NM_013382.5(POMT2):c.1958C>T (p.Pro653Leu) SNV Likely pathogenic 194966 rs794727228 GRCh37: 14:77745146-77745146
GRCh38: 14:77278803-77278803
27 POMT2 NM_013382.5(POMT2):c.1752_1753CA[1] (p.Thr585fs) Microsatellite Likely pathogenic 538732 rs1555351894 GRCh37: 14:77746394-77746395
GRCh38: 14:77280051-77280052
28 POMT2 NM_013382.5(POMT2):c.1261C>T (p.Arg421Trp) SNV Likely pathogenic 162597 rs727502855 GRCh37: 14:77753158-77753158
GRCh38: 14:77286815-77286815
29 POMT2 NM_013382.7(POMT2):c.311A>T (p.Asp104Val) SNV Likely pathogenic 992975 GRCh37: 14:77778314-77778314
GRCh38: 14:77311971-77311971
30 POMT2 NM_013382.5(POMT2):c.1485-2_1485-1del Deletion Likely pathogenic 579922 rs1185491348 GRCh37: 14:77751385-77751386
GRCh38: 14:77285042-77285043
31 POMT2 NM_013382.5(POMT2):c.242A>G (p.His81Arg) SNV Uncertain significance 580857 rs746662519 GRCh37: 14:77786783-77786783
GRCh38: 14:77320440-77320440
32 POMT2 NM_013382.5(POMT2):c.2148-6T>A SNV Uncertain significance 581413 rs1242617887 GRCh37: 14:77743830-77743830
GRCh38: 14:77277487-77277487
33 POMT2 NM_013382.5(POMT2):c.1300C>T (p.Arg434Trp) SNV Uncertain significance 582117 rs768256055 GRCh37: 14:77753119-77753119
GRCh38: 14:77286776-77286776
34 POMT2 NM_013382.5(POMT2):c.334-3C>A SNV Uncertain significance 587446 rs1566658848 GRCh37: 14:77772787-77772787
GRCh38: 14:77306444-77306444
35 POMT2 NM_013382.5(POMT2):c.1300C>T (p.Arg434Trp) SNV Uncertain significance 582117 rs768256055 GRCh37: 14:77753119-77753119
GRCh38: 14:77286776-77286776
36 POMT2 NM_013382.5(POMT2):c.642C>A (p.Asn214Lys) SNV Uncertain significance 644886 rs1594797659 GRCh37: 14:77769192-77769192
GRCh38: 14:77302849-77302849
37 POMT2 NM_013382.5(POMT2):c.685C>T (p.Leu229Phe) SNV Uncertain significance 645110 rs754512099 GRCh37: 14:77767564-77767564
GRCh38: 14:77301221-77301221
38 POMT2 NM_013382.5(POMT2):c.1857G>C (p.Met619Ile) SNV Uncertain significance 646201 rs1594885046 GRCh37: 14:77746200-77746200
GRCh38: 14:77279857-77279857
39 POMT2 NM_013382.5(POMT2):c.416A>G (p.His139Arg) SNV Uncertain significance 647612 rs1594800188 GRCh37: 14:77772702-77772702
GRCh38: 14:77306359-77306359
40 POMT2 NM_013382.5(POMT2):c.50G>A (p.Arg17Gln) SNV Uncertain significance 648610 rs753326186 GRCh37: 14:77786975-77786975
GRCh38: 14:77320632-77320632
41 POMT2 NM_013382.5(POMT2):c.1282_1284del (p.His428del) Deletion Uncertain significance 650053 rs1594890912 GRCh37: 14:77753135-77753137
GRCh38: 14:77286792-77286794
42 POMT2 NM_013382.5(POMT2):c.1006+4_1006+7del Deletion Uncertain significance 652452 rs1594794303 GRCh37: 14:77765025-77765028
GRCh38: 14:77298682-77298685
43 POMT2 NM_013382.5(POMT2):c.1142A>G (p.Tyr381Cys) SNV Uncertain significance 654933 rs375840897 GRCh37: 14:77757698-77757698
GRCh38: 14:77291355-77291355
44 POMT2 NM_013382.5(POMT2):c.1124C>T (p.Thr375Ile) SNV Uncertain significance 657085 rs542912704 GRCh37: 14:77757716-77757716
GRCh38: 14:77291373-77291373
45 POMT2 NM_013382.5(POMT2):c.14C>G (p.Thr5Arg) SNV Uncertain significance 657322 rs760413289 GRCh37: 14:77787011-77787011
GRCh38: 14:77320668-77320668
46 POMT2 NM_013382.5(POMT2):c.1223A>G (p.His408Arg) SNV Uncertain significance 658014 rs1594787166 GRCh37: 14:77755135-77755135
GRCh38: 14:77288792-77288792
47 POMT2 NM_013382.5(POMT2):c.1975C>T (p.Arg659Trp) SNV Uncertain significance 658319 rs372939905 GRCh37: 14:77745129-77745129
GRCh38: 14:77278786-77278786
48 POMT2 NM_013382.5(POMT2):c.2251T>C (p.Ter751Arg) SNV Uncertain significance 665182 rs1423335226 GRCh37: 14:77743721-77743721
GRCh38: 14:77277378-77277378
49 POMT2 NM_013382.5(POMT2):c.322C>T (p.Pro108Ser) SNV Uncertain significance 471394 rs1555355402 GRCh37: 14:77778303-77778303
GRCh38: 14:77311960-77311960
50 POMT2 NM_013382.5(POMT2):c.1828C>T (p.Leu610Phe) SNV Uncertain significance 471391 rs1555351859 GRCh37: 14:77746229-77746229
GRCh38: 14:77279886-77279886

Expression for Congenital Muscular Dystrophy-Dystroglycanopathy Type A2

Search GEO for disease gene expression data for Congenital Muscular Dystrophy-Dystroglycanopathy Type A2.

Pathways for Congenital Muscular Dystrophy-Dystroglycanopathy Type A2

Pathways related to Congenital Muscular Dystrophy-Dystroglycanopathy Type A2 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.45 POMT2 POMT1 PIGV PIGL DPM3 ALG6
2
Show member pathways
12.59 POMT2 POMT1 PIGV PIGL DPM3 ALG6
3
Show member pathways
11.79 DPM3 ALG6 ALG2
4
Show member pathways
11.45 POMT2 POMT1
5
Show member pathways
11.34 DPM3 ALG6 ALG2
6
Show member pathways
11.13 PIGV PIGL DPM3
7
Show member pathways
11.02 PIGV PIGL
8 10.73 POMT2 POMT1

GO Terms for Congenital Muscular Dystrophy-Dystroglycanopathy Type A2

Cellular components related to Congenital Muscular Dystrophy-Dystroglycanopathy Type A2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 9.87 POMT2 POMT1 PIGV PIGL DPM3 ALG6
2 integral component of membrane GO:0016021 9.8 POMT2 POMT1 PIGV PIGL DPM3 ALG6
3 endoplasmic reticulum GO:0005783 9.63 POMT2 POMT1 PIGV PIGL DPM3 ALG6
4 endoplasmic reticulum membrane GO:0005789 9.17 POMT2 POMT1 PIGV PIGL DPM3 ALG6
5 mannosyltransferase complex GO:0031501 8.96 PIGV DPM3

Biological processes related to Congenital Muscular Dystrophy-Dystroglycanopathy Type A2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein O-linked glycosylation GO:0006493 9.46 POMT2 POMT1
2 preassembly of GPI anchor in ER membrane GO:0016254 9.43 PIGV PIGL
3 GPI anchor biosynthetic process GO:0006506 9.43 PIGV PIGL DPM3
4 dolichol-linked oligosaccharide biosynthetic process GO:0006488 9.4 ALG6 ALG2
5 oligosaccharide-lipid intermediate biosynthetic process GO:0006490 9.37 ALG6 ALG2
6 protein glycosylation GO:0006486 9.35 POMT2 POMT1 DPM3 ALG6 ALG2
7 protein O-linked mannosylation GO:0035269 9.33 POMT2 POMT1 DPM3
8 positive regulation of protein O-linked glycosylation GO:1904100 9.32 POMT2 POMT1
9 mannosylation GO:0097502 8.92 POMT2 POMT1 PIGV ALG2

Molecular functions related to Congenital Muscular Dystrophy-Dystroglycanopathy Type A2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transferase activity GO:0016740 9.65 POMT2 POMT1 PIGV ALG6 ALG2
2 dolichyl-phosphate-mannose-protein mannosyltransferase activity GO:0004169 9.16 POMT2 POMT1
3 mannosyltransferase activity GO:0000030 9.13 POMT2 POMT1 PIGV
4 transferase activity, transferring glycosyl groups GO:0016757 9.02 POMT2 POMT1 PIGV ALG6 ALG2

Sources for Congenital Muscular Dystrophy-Dystroglycanopathy Type A2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
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46 MGI
49 NCI
50 NCIt
51 NDF-RT
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54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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