Congenital Muscular Dystrophy-Dystroglycanopathy Type A2 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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
Genes Variations Tissues Related diseases Publications Pathways Expand all tables

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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:

MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases Fetal diseases
Anatomical: Muscle diseases Neuronal diseases Eye diseases Mental diseases

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹² DOID:0111240

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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.

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Related Diseases for Congenital Muscular Dystrophy-Dystroglycanopathy Type A2

Diseases in the Muscular Dystrophy-Dystroglycanopathy family:

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:

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Symptoms & Phenotypes for Congenital Muscular Dystrophy-Dystroglycanopathy Type A2

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Drugs & Therapeutics for Congenital Muscular Dystrophy-Dystroglycanopathy Type A2

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

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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

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Anatomical Context for Congenital Muscular Dystrophy-Dystroglycanopathy Type A2

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

⁴⁰

Eye, Brain

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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	Johnson K...Straub V	30060766	2018
2	Noncompaction cardiomyopathy in an infant with Walker-Warburg syndrome. ⁶	Abdullah S...Guerin A	28980384	2017
3	Targeted Re-Sequencing Emulsion PCR Panel for Myopathies: Results in 94 Cases. ⁶	Punetha J...Hoffman EP	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	Abumansour IS...Hunt JC	26495167	2015
5	Novel cardiovascular findings in association with a POMT2 mutation: three siblings with α-dystroglycanopathy. ⁶	Martinez HR...Jefferies JL	24002165	2014
6	Cobblestone lissencephaly: neuropathological subtypes and correlations with genes of dystroglycanopathies. ⁶	Devisme L...Encha-Razavi F	22323514	2012
7	POMT2 intragenic deletions and splicing abnormalities causing congenital muscular dystrophy with mental retardation. ⁶	Yanagisawa A...Guicheney P	19138766	2009
8	Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study. ⁶	Mercuri E...Bertini E	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	Manzini MC...Walsh CA	18752264	2008
10	Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan. ⁶	Godfrey C...Muntoni F	17878207	2007
11	Molecular heterogeneity in fetal forms of type II lissencephaly. ⁶	Bouchet C...Seta N	17559086	2007
12	IL-20 is an arteriogenic cytokine that remodels collateral networks and improves functions of ischemic hind limbs. ⁶	Tritsaris K...Cao Y	17878297	2007
13	New POMT2 mutations causing congenital muscular dystrophy: identification of a founder mutation. ⁶	Yanagisawa A...Guicheney P	17634419	2007
14	POMT2 mutation in a patient with 'MEB-like' phenotype. ⁶	Mercuri E...Santorelli FM	16701995	2006
15	POMT2 mutations cause alpha-dystroglycan hypoglycosylation and Walker-Warburg syndrome. ⁶	van Reeuwijk J...van Bokhoven H	15894594	2005

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Genes for Congenital Muscular Dystrophy-Dystroglycanopathy Type A2

Genes related to Congenital Muscular Dystrophy-Dystroglycanopathy Type A2 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	POMT2	Protein O-Mannosyltransferase 2	Protein Coding	531.57	Pathogenic ⁶ Genetic Tests ²⁹ Likely pathogenic ⁶ DISEASES inferred ¹⁵	15894594
2	POMT1	Protein O-Mannosyltransferase 1	Protein Coding	6.43	DISEASES inferred ¹⁵
3	PIGL	Phosphatidylinositol Glycan Anchor Biosynthesis Class L	Protein Coding	5.51	DISEASES inferred ¹⁵
4	ALG2	ALG2 Alpha-1,3/1,6-Mannosyltransferase	Protein Coding	5.51	DISEASES inferred ¹⁵
5	PIGV	Phosphatidylinositol Glycan Anchor Biosynthesis Class V	Protein Coding	5.44	DISEASES inferred ¹⁵
6	DPM3	Dolichyl-Phosphate Mannosyltransferase Subunit 3, Regulatory	Protein Coding	5.44	DISEASES inferred ¹⁵
7	ALG6	ALG6 Alpha-1,3-Glucosyltransferase	Protein Coding	5.37	DISEASES inferred ¹⁵

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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

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Expression for Congenital Muscular Dystrophy-Dystroglycanopathy Type A2

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

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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	Metabolism ⁶⁵ Show member pathways Metabolic pathways ³⁶ Metabolism of lipids and lipoproteins ⁶⁵	13.45	POMT2 POMT1 PIGV PIGL DPM3 ALG6
2	Metabolism of proteins ⁶⁵ Show member pathways Post-translational protein modification ⁶⁵	12.59	POMT2 POMT1 PIGV PIGL DPM3 ALG6
3	Synthesis of substrates in N-glycan biosythesis ⁶⁵ Show member pathways Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein ⁶⁵ CMP-N-acetylneuraminate biosynthesis I (eukaryotes) ¹ dolichol and dolichyl phosphate biosynthesis ¹ GDP-fucose biosynthesis ⁶⁵ GDP-L-fucose biosynthesis I (from GDP-D-mannose) ¹ GDP-L-fucose biosynthesis II (from L-fucose) ¹ Sialic acid metabolism ⁶⁵ Synthesis of Dolichyl-phosphate ⁶⁵ Synthesis of dolichyl-phosphate-glucose ⁶⁵	11.79	DPM3 ALG6 ALG2
4	Mucin type O-glycan biosynthesis ³⁶ Show member pathways mucin core 1 and core 2 O-glycosylation ¹ Other types of O-glycan biosynthesis ³⁶	11.45	POMT2 POMT1
5	N-Glycan biosynthesis ³⁶ Show member pathways dolichyl-diphosphooligosaccharide biosynthesis ¹ Synthesis of dolichyl-phosphate mannose ⁶⁵ Various types of N-glycan biosynthesis ³⁶	11.34	DPM3 ALG6 ALG2
6	Post-translational modification- synthesis of GPI-anchored proteins ⁶⁵ Show member pathways Attachment of GPI anchor to uPAR ⁶⁵	11.13	PIGV PIGL DPM3
7	Glycosylphosphatidylinositol (GPI)-anchor biosynthesis ³⁶ Show member pathways Synthesis of glycosylphosphatidylinositol (GPI) ⁶⁵	11.02	PIGV PIGL
8	Mannose type O-glycan biosynthesis ³⁶	10.73	POMT2 POMT1

Sources

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

Sources for Congenital Muscular Dystrophy-Dystroglycanopathy Type A2

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

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²⁰ GARD

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²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

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²⁷ GEO DataSets

²⁸ GO

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³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

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³⁸ LncRNADisease

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⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

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⁴⁴ MeSH

⁴⁵ MESH via Orphanet

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⁴⁸ NCBI Bookshelf

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⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 20-May-2021)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

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⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ Tocris

⁷⁰ UMLS

⁷¹ UMLS via Orphanet

⁷² UniProtKB/Swiss-Prot

⁷³ Wikipedia