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

MCID: CNG557 MIFTS: 29	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 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 42)

#	Related Disease	Score	Top Affiliating Genes
1	muscular dystrophy-dystroglycanopathy , type a, 2	11.5
2	congenital muscular dystrophy with intellectual disability	10.2	POMT2 POMT1
3	congenital muscular dystrophy with cerebellar involvement	10.2	POMT2 POMT1
4	retinal lattice degeneration	10.1	POMT2 POMT1
5	autosomal recessive limb-girdle muscular dystrophy type 2l	10.1	POMT2 POMT1
6	cardiomyopathy, dilated, 1d	10.1	POMT2 POMT1
7	cobblestone lissencephaly	10.1	POMT2 POMT1
8	muscular dystrophy-dystroglycanopathy , type a, 1	10.1	POMT2 POMT1
9	congenital muscular dystrophy-dystroglycanopathy type a3	10.1	POMT2 DPM3
10	muscular dystrophy, congenital merosin-deficient, 1a	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 disorder of glycosylation, type iig	10.0	DPM3 ALG2
14	bethlem myopathy 1	10.0	POMT2 POMT1
15	kahrizi syndrome	10.0	DPM3 ALG2
16	congenital nervous system abnormality	10.0	POMT2 POMT1
17	muscular dystrophy, limb-girdle, autosomal recessive 2	9.9	POMT2 POMT1
18	fructose intolerance, hereditary	9.9	DPM3 ALG2
19	muscle tissue disease	9.9	POMT2 POMT1
20	congenital muscular dystrophy-dystroglycanopathy type a	9.8	POMT2 POMT1 DPM3
21	muscular dystrophy-dystroglycanopathy	9.8	POMT2 POMT1 DPM3
22	multiple congenital anomalies-hypotonia-seizures syndrome	9.8	PIGV PIGM
23	muscular disease	9.8	POMT2 POMT1
24	muscular dystrophy-dystroglycanopathy , type c, 2	9.8	POMT2 POMT1 DPM3
25	muscular dystrophy-dystroglycanopathy , type c, 3	9.8	POMT2 POMT1 DPM3
26	hydrophthalmos	9.8	POMT2 POMT1 DPM3
27	muscular dystrophy-dystroglycanopathy , type c, 1	9.8	POMT2 POMT1 DPM3
28	muscular dystrophy-dystroglycanopathy , type b, 6	9.8	POMT2 POMT1 DPM3
29	muscular dystrophy-dystroglycanopathy , type c, 4	9.8	POMT2 POMT1 DPM3
30	muscular dystrophy-dystroglycanopathy , type b, 5	9.8	POMT2 POMT1 DPM3
31	congenital disorders of n-linked glycosylation and multiple pathway	9.8	ALG6 ALG2
32	muscular dystrophy-dystroglycanopathy , type a, 4	9.8	POMT2 POMT1 DPM3
33	glaucoma 3, primary congenital, a	9.8	POMT2 POMT1 DPM3
34	congenital disorder of glycosylation, type iii	9.8	ALG6 ALG2
35	congenital disorder of glycosylation, type iik	9.7	ALG6 ALG2
36	congenital disorder of glycosylation, type im	9.7	DPM3 ALG6
37	periventricular nodular heterotopia	9.7	POMT2 POMT1
38	walker-warburg syndrome	9.4	POMT2 POMT1 DPM3 ALG2
39	congenital muscular dystrophy-dystroglycanopathy type a1	9.4	POMT2 POMT1 PIGM DPM3
40	congenital disorder of glycosylation, type ie	9.4	DPM3 ALG6 ALG2
41	immunodeficiency 47	9.0	PIGM DPM3 ALG6 ALG2
42	congenital disorder of glycosylation, type in	8.5	POMT2 POMT1 PIGM 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

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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
1	POMT2	Protein O-Mannosyltransferase 2	Protein Coding	506.58	Pathogenic ⁶ Genetic Tests ²⁹ DISEASES inferred ¹⁵
2	POMT1	Protein O-Mannosyltransferase 1	Protein Coding	6.43	DISEASES inferred ¹⁵
3	ALG2	ALG2 Alpha-1,3/1,6-Mannosyltransferase	Protein Coding	5.49	DISEASES inferred ¹⁵
4	DPM3	Dolichyl-Phosphate Mannosyltransferase Subunit 3, Regulatory	Protein Coding	5.44	DISEASES inferred ¹⁵
5	PIGV	Phosphatidylinositol Glycan Anchor Biosynthesis Class V	Protein Coding	5.42	DISEASES inferred ¹⁵
6	ALG6	ALG6 Alpha-1,3-Glucosyltransferase	Protein Coding	5.36	DISEASES inferred ¹⁵
7	PIGM	Phosphatidylinositol Glycan Anchor Biosynthesis Class M	Protein Coding	5.3	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 152) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	POMT2	NM_013382.5(POMT2):c.924-2A>C	SNV	Pathogenic	449378	rs886044256	14:77765116-77765116	14:77298773-77298773
2	POMT2	NM_013382.5(POMT2):c.648C>A (p.Cys216Ter)	SNV	Pathogenic	538730	rs147871747	14:77769186-77769186	14:77302843-77302843
3	POMT2	NM_013382.5(POMT2):c.673del (p.Trp225fs)	deletion	Pathogenic	649496		14:77767576-77767576	14:77301233-77301233
4	POMT2	NM_013382.5(POMT2):c.1912C>T (p.Arg638Ter)	SNV	Pathogenic	3218	rs119463989	14:77745192-77745192	14:77278849-77278849
5	POMT2	NM_013382.5(POMT2):c.1006+1G>A	SNV	Pathogenic	3219	rs533916138	14:77765031-77765031	14:77298688-77298688
6	POMT2	NM_013382.5(POMT2):c.1261del (p.Arg421fs)	deletion	Pathogenic	3220	rs587777815	14:77753158-77753158	14:77286815-77286815
7	POMT2	NM_013382.5(POMT2):c.1293dup (p.Met432fs)	duplication	Pathogenic	538734	rs1555352706	14:77753125-77753126	14:77286782-77286783
8	POMT2	NM_013382.5(POMT2):c.2177G>A (p.Gly726Glu)	SNV	Pathogenic	3222	rs267606969	14:77743795-77743795	14:77277452-77277452
9	POMT2	NM_013382.5(POMT2):c.1057G>A (p.Gly353Ser)	SNV	Pathogenic	3231	rs267606970	14:77762566-77762566	14:77296223-77296223
10	POMT2	POMT2, IVS12AS, G-A, -14	SNV	Pathogenic	3235
11	POMT2	NM_013382.5(POMT2):c.1445G>T (p.Gly482Val)	SNV	Pathogenic	3236	rs267606968	14:77751863-77751863	14:77285520-77285520
12	POMT2	NM_013382.5(POMT2):c.1117G>T (p.Val373Phe)	SNV	Pathogenic	3226	rs267606965	14:77757723-77757723	14:77291380-77291380
13	POMT2	NM_013382.5(POMT2):c.1417C>T (p.Arg473Ter)	SNV	Pathogenic	95535	rs368817785	14:77751891-77751891	14:77285548-77285548
14	POMT2	NM_013382.5(POMT2):c.958C>T (p.Gln320Ter)	SNV	Pathogenic	289683	rs775932206	14:77765080-77765080	14:77298737-77298737
15	POMT2	NM_013382.5(POMT2):c.1997A>G (p.Tyr666Cys)	SNV	Pathogenic/Likely pathogenic	3221	rs200198778	14:77745107-77745107	14:77278764-77278764
16	POMT2	NM_013382.5(POMT2):c.1485-2_1485-1del	deletion	Likely pathogenic	579922	rs1185491348	14:77751385-77751386	14:77285042-77285043
17	POMT2	NM_013382.5(POMT2):c.1752_1753CA[1] (p.Thr585fs)	short repeat	Likely pathogenic	538732	rs1555351894	14:77746394-77746395	14:77280051-77280052
18	POMT2	NM_013382.5(POMT2):c.248+1G>C	SNV	Likely pathogenic	579369	rs961440747	14:77786776-77786776	14:77320433-77320433
19	POMT2	NM_013382.5(POMT2):c.1332+6_1332+9del	short repeat	Conflicting interpretations of pathogenicity	592360	rs781093215	14:77753078-77753081	14:77286735-77286738
20	POMT2	NM_013382.5(POMT2):c.871C>G (p.Leu291Val)	SNV	Conflicting interpretations of pathogenicity	436382	rs764015186	14:77765850-77765850	14:77299507-77299507
21	POMT2	NM_013382.5(POMT2):c.1397G>A (p.Arg466Gln)	SNV	Conflicting interpretations of pathogenicity	471387	rs138266415	14:77751911-77751911	14:77285568-77285568
22	POMT2	NM_013382.7(POMT2):c.1045C>T (p.Arg349Trp)	SNV	Conflicting interpretations of pathogenicity	79628	rs141339355	14:77762578-77762578	14:77296235-77296235
23	POMT2	NM_013382.5(POMT2):c.232G>C (p.Glu78Gln)	SNV	Conflicting interpretations of pathogenicity	95541	rs151103906	14:77786793-77786793	14:77320450-77320450
24	POMT2	NM_013382.5(POMT2):c.1404A>G (p.Lys468=)	SNV	Conflicting interpretations of pathogenicity	194247	rs150491326	14:77751904-77751904	14:77285561-77285561
25	POMT2	NM_013382.5(POMT2):c.1485-4A>C	SNV	Conflicting interpretations of pathogenicity	194400	rs794727127	14:77751388-77751388	14:77285045-77285045
26	POMT2	NM_013382.5(POMT2):c.1701C>G (p.Pro567=)	SNV	Conflicting interpretations of pathogenicity	194648	rs151051452	14:77746759-77746759	14:77280416-77280416
27	POMT2	NM_013382.5(POMT2):c.1881G>A (p.Ala627=)	SNV	Conflicting interpretations of pathogenicity	194863	rs146588608	14:77746176-77746176	14:77279833-77279833
28	POMT2	NM_013382.5(POMT2):c.1903G>A (p.Val635Ile)	SNV	Conflicting interpretations of pathogenicity	194965	rs142299878	14:77745201-77745201	14:77278858-77278858
29	POMT2	NM_013382.5(POMT2):c.1958C>T (p.Pro653Leu)	SNV	Conflicting interpretations of pathogenicity	194966	rs794727228	14:77745146-77745146	14:77278803-77278803
30	POMT2	NM_013382.5(POMT2):c.84C>T (p.Ala28=)	SNV	Conflicting interpretations of pathogenicity	290205	rs771031903	14:77786941-77786941	14:77320598-77320598
31	POMT2	NM_013382.5(POMT2):c.1935C>T (p.Leu645=)	SNV	Conflicting interpretations of pathogenicity	284450	rs141193672	14:77745169-77745169	14:77278826-77278826
32	POMT2	NM_013382.5(POMT2):c.648C>T (p.Cys216=)	SNV	Conflicting interpretations of pathogenicity	314560	rs147871747	14:77769186-77769186	14:77302843-77302843
33	POMT2	NM_013382.5(POMT2):c.1206A>C (p.Pro402=)	SNV	Conflicting interpretations of pathogenicity	386968	rs142479943	14:77755152-77755152	14:77288809-77288809
34	POMT2	NM_013382.5(POMT2):c.1261C>T (p.Arg421Trp)	SNV	Conflicting interpretations of pathogenicity	162597	rs727502855	14:77753158-77753158	14:77286815-77286815
35	POMT2	NM_013382.5(POMT2):c.1683T>C (p.Asn561=)	SNV	Conflicting interpretations of pathogenicity	166904	rs146307965	14:77746777-77746777	14:77280434-77280434
36	POMT2	NM_013382.5(POMT2):c.1537A>G (p.Asn513Asp)	SNV	Conflicting interpretations of pathogenicity	211949	rs117173425	14:77751332-77751332	14:77284989-77284989
37	POMT2	NM_013382.5(POMT2):c.2057G>A (p.Arg686Gln)	SNV	Conflicting interpretations of pathogenicity	282243	rs200163818	14:77744827-77744827	14:77278484-77278484
38	POMT2	NM_013382.5(POMT2):c.651C>T (p.Ala217=)	SNV	Conflicting interpretations of pathogenicity	282404	rs147845081	14:77769183-77769183	14:77302840-77302840
39	POMT2	NM_013382.5(POMT2):c.649G>A (p.Ala217Thr)	SNV	Conflicting interpretations of pathogenicity	282839	rs144748043	14:77769185-77769185	14:77302842-77302842
40	POMT2	NM_013382.5(POMT2):c.1654-8T>G	SNV	Conflicting interpretations of pathogenicity	283033	rs780532724	14:77746814-77746814	14:77280471-77280471
41	POMT2	NM_013382.5(POMT2):c.1250A>G (p.Lys417Arg)	SNV	Conflicting interpretations of pathogenicity	260291	rs147268052	14:77755108-77755108	14:77288765-77288765
42	POMT2	NM_013382.5(POMT2):c.2223A>G (p.Gly741=)	SNV	Conflicting interpretations of pathogenicity	283477	rs554801559	14:77743749-77743749	14:77277406-77277406
43	POMT2	NM_013382.5(POMT2):c.66C>T (p.Gly22=)	SNV	Conflicting interpretations of pathogenicity	285150	rs200670377	14:77786959-77786959	14:77320616-77320616
44	POMT2	NM_013382.5(POMT2):c.621G>A (p.Met207Ile)	SNV	Uncertain significance	285222	rs551885065	14:77769213-77769213	14:77302870-77302870
45	POMT2	NM_013382.5(POMT2):c.825G>A (p.Val275=)	SNV	Uncertain significance	288761	rs779272258	14:77765896-77765896	14:77299553-77299553
46	POMT2	NM_013382.5(POMT2):c.2086C>A (p.Pro696Thr)	SNV	Uncertain significance	283989	rs76700503	14:77744798-77744798	14:77278455-77278455
47	POMT2	NM_013382.5(POMT2):c.1711C>T (p.Pro571Ser)	SNV	Uncertain significance	284056	rs771812476	14:77746749-77746749	14:77280406-77280406
48	POMT2	NM_013382.5(POMT2):c.1920C>T (p.Gly640=)	SNV	Uncertain significance	281987	rs150755807	14:77745184-77745184	14:77278841-77278841
49	POMT2	NM_013382.5(POMT2):c.1732C>T (p.Arg578Cys)	SNV	Uncertain significance	283109	rs148466370	14:77746417-77746417	14:77280074-77280074
50	POMT2	NM_013382.5(POMT2):c.148C>G (p.Arg50Gly)	SNV	Uncertain significance	211948	rs550420394	14:77786877-77786877	14:77320534-77320534

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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 PIGM DPM3 ALG6
2	Metabolism of proteins ⁶⁵ Show member pathways Post-translational protein modification ⁶⁵	12.59	POMT2 POMT1 PIGV PIGM 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 PIGM DPM3
7	Glycosylphosphatidylinositol (GPI)-anchor biosynthesis ³⁶ Show member pathways Synthesis of glycosylphosphatidylinositol (GPI) ⁶⁵	11.02	PIGV PIGM
8	Mannose type O-glycan biosynthesis ³⁶	10.73	POMT2 POMT1

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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 PIGM DPM3 ALG6
2	integral component of membrane	GO:0016021	9.8	POMT2 POMT1 PIGV PIGM DPM3 ALG6
3	endoplasmic reticulum	GO:0005783	9.63	POMT2 POMT1 PIGV PIGM DPM3 ALG6
4	endoplasmic reticulum membrane	GO:0005789	9.17	POMT2 POMT1 PIGV PIGM 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 PIGM
3	GPI anchor biosynthetic process	GO:0006506	9.43	PIGV PIGM 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	9.02	POMT2 POMT1 PIGV PIGM 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	9.63	POMT2 POMT1 PIGV PIGM ALG6 ALG2
2	transferase activity, transferring hexosyl groups	GO:0016758	9.32	PIGM ALG6
3	dolichyl-phosphate-mannose-protein mannosyltransferase activity	GO:0004169	9.26	POMT2 POMT1
4	mannosyltransferase activity	GO:0000030	9.26	POMT2 POMT1 PIGV PIGM
5	transferase activity, transferring glycosyl groups	GO:0016757	9.1	POMT2 POMT1 PIGV PIGM 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

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¹⁶ DrugBank

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¹⁹ FMA

²⁰ GeneAnalytics

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²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

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⁴⁴ MESH via Orphanet

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