MCID: MSC104
MIFTS: 37

Muscular Dystrophy-Dystroglycanopathy , Type C, 1

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

Aliases & Classifications for Muscular Dystrophy-Dystroglycanopathy , Type C, 1

MalaCards integrated aliases for Muscular Dystrophy-Dystroglycanopathy , Type C, 1:

Name: Muscular Dystrophy-Dystroglycanopathy , Type C, 1 57 53 13
Lgmd2k 57 12 53 59 75
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2k 12 53 59 15
Limb-Girdle Muscular Dystrophy-Intellectual Disability Syndrome 12 53 59
Mddgc1 57 12 75
Limb-Girdle Muscular Dystrophy-Dystroglycanopathy, Type C1 29 6
Muscular Dystrophy, Limb-Girdle, Type 2k 57 73
Limb-Girdle Muscular Dystrophy Type 2k 53 75
Autosomal Recessive Limb-Girdle Muscular Dystrophy with Mental Retardation 75
Limb-Girdle Muscular Dystrophy - Intellectual Disability 53
Muscular Dystrophy-Dystroglycanopathy Limb-Girdle C1 75
Muscular Dystrophy, Limb-Girdle, Type 2k; Lgmd2k 57
Muscular Dystrophy-Dystroglycanopathy Type C 1 12
Dystrophy, Muscular, Limb-Girdle, Type 2k ) 40
Muscular Dystrophy Limb-Girdle Type 2k 12

Characteristics:

Orphanet epidemiological data:

59
autosomal recessive limb-girdle muscular dystrophy type 2k
Inheritance: Autosomal recessive; Age of onset: Childhood;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
variable severity
slowly progressive
onset in infancy or early childhood (birth to 6 years)


HPO:

32
muscular dystrophy-dystroglycanopathy , type c, 1:
Onset and clinical course variable expressivity infantile onset slow progression
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 609308
Disease Ontology 12 DOID:0110297
ICD10 33 G71.0
Orphanet 59 ORPHA86812
ICD10 via Orphanet 34 G71.0
UMLS via Orphanet 74 C1836373
MedGen 42 C1836373
MeSH 44 D049288
UMLS 73 C1836373

Summaries for Muscular Dystrophy-Dystroglycanopathy , Type C, 1

OMIM : 57 Limb-girdle muscular dystrophies resulting from defective glycosylation of alpha-dystroglycan (DAG1; 128239) represent the mildest end of the phenotypic spectrum of muscular dystrophies collectively known as dystroglycanopathies. The limb-girdle phenotype is characterized by onset of muscular weakness apparent after ambulation is achieved; mental retardation and mild brain anomalies are variable (Balci et al., 2005; review by Godfrey et al., 2007). The most severe end of the phenotypic spectrum of dystroglycanopathies is represented by congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A; see MDDGA1, 236670), previously designated Walker-Warburg syndrome (WWS) or muscle-eye-brain disease (MEB), and the intermediate range of the spectrum is represented by congenital muscular dystrophy-dystroglycanopathy with or without mental retardation (type B; see MDDGB1, 613155). (609308)

MalaCards based summary : Muscular Dystrophy-Dystroglycanopathy , Type C, 1, also known as lgmd2k, is related to muscular dystrophy-dystroglycanopathy , type c, 9 and muscular dystrophy-dystroglycanopathy , type c, 14. An important gene associated with Muscular Dystrophy-Dystroglycanopathy , Type C, 1 is POMT1 (Protein O-Mannosyltransferase 1), and among its related pathways/superpathways are Mannose type O-glycan biosynthesis and Other types of O-glycan biosynthesis. Affiliated tissues include brain and eye, and related phenotypes are intellectual disability and microcephaly

Disease Ontology : 12 An autosomal recessive limb-girdle muscular dystrophy that has material basis in homozygous or compound heterozygous mutation in the gene encoding protein O-mannosyltransferase (POMT1).

UniProtKB/Swiss-Prot : 75 Muscular dystrophy-dystroglycanopathy limb-girdle C1: An autosomal recessive degenerative myopathy associated with mild mental retardation without any obvious structural brain abnormality. An abnormal alpha-dystroglycan pattern in observed in the muscle.

Related Diseases for Muscular Dystrophy-Dystroglycanopathy , Type C, 1

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 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

Diseases related to Muscular Dystrophy-Dystroglycanopathy , Type C, 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 30)
# Related Disease Score Top Affiliating Genes
1 muscular dystrophy-dystroglycanopathy , type c, 9 29.0 GMPPB HNRNPDL TNPO3 TRAPPC11
2 muscular dystrophy-dystroglycanopathy , type c, 14 28.9 GMPPB HNRNPDL TNPO3 TRAPPC11
3 muscular dystrophy-dystroglycanopathy , type c, 3 28.9 GMPPB HNRNPDL TNPO3 TRAPPC11
4 muscular dystrophy-dystroglycanopathy , type c, 2 27.4 GMPPB HNRNPDL POMT1 POMT2 TNPO3 TRAPPC11
5 muscular dystrophy-dystroglycanopathy , type c, 5 10.9
6 muscular dystrophy-dystroglycanopathy , type b, 1 10.9
7 muscular dystrophy-dystroglycanopathy , type a, 1 10.1 POMT1 POMT2
8 muscular dystrophy-dystroglycanopathy , type b, 6 9.9 POMT1 POMT2
9 muscular dystrophy-dystroglycanopathy , type a, 4 9.8 POMT1 POMT2
10 autosomal recessive limb-girdle muscular dystrophy type 2e 9.7 HNRNPDL TRAPPC11
11 congenital muscular dystrophy with intellectual disability 9.7 GMPPB POMT1 POMT2
12 congenital muscular dystrophy with cerebellar involvement 9.7 GMPPB POMT1 POMT2
13 muscular dystrophy, limb-girdle, type 2l 9.6 POMT1 POMT2 TRAPPC11
14 muscular dystrophy-dystroglycanopathy 9.6 GMPPB POMT1 POMT2
15 muscle eye brain disease 9.6 GMPPB POMT1 POMT2
16 muscular dystrophy-dystroglycanopathy , type b, 5 9.6 POMT1 POMT2
17 walker-warburg syndrome 9.6 GMPPB POMT1 POMT2
18 muscular dystrophy, limb-girdle, type 1h 9.5 HNRNPDL TNPO3
19 muscular dystrophy-dystroglycanopathy , type c, 4 9.4 HNRNPDL POMT2 TRAPPC11
20 autosomal dominant limb-girdle muscular dystrophy type 1c 9.4 HNRNPDL TNPO3
21 muscular dystrophy, limb-girdle, type 1b 9.3 HNRNPDL TNPO3
22 autosomal dominant limb-girdle muscular dystrophy type 1g 9.0 HNRNPDL TNPO3 TRAPPC11
23 muscular dystrophy, limb-girdle, type 2q 9.0 HNRNPDL TNPO3 TRAPPC11
24 muscular dystrophy, limb-girdle, type 1f 9.0 HNRNPDL TNPO3 TRAPPC11
25 limb-girdle muscular dystrophy 8.4 HNRNPDL POMT1 TNPO3 TRAPPC11
26 muscular dystrophy, limb-girdle, type 2w 8.4 GMPPB HNRNPDL TNPO3 TRAPPC11
27 muscular dystrophy, limb-girdle, type 2r 8.4 GMPPB HNRNPDL TNPO3 TRAPPC11
28 muscular dystrophy-dystroglycanopathy , type c, 7 8.4 GMPPB HNRNPDL TNPO3 TRAPPC11
29 muscular dystrophy, limb-girdle, type 1e 8.4 GMPPB HNRNPDL TNPO3 TRAPPC11
30 muscular dystrophy 7.4 GMPPB HNRNPDL POMT1 POMT2 TNPO3 TRAPPC11

Graphical network of the top 20 diseases related to Muscular Dystrophy-Dystroglycanopathy , Type C, 1:



Diseases related to Muscular Dystrophy-Dystroglycanopathy  , Type C, 1

Symptoms & Phenotypes for Muscular Dystrophy-Dystroglycanopathy , Type C, 1

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Head:
microcephaly

Neurologic Central Nervous System:
delayed motor development
mental retardation, mild to moderate (in some patients)
no structural brain abnormalities seen on mri

Laboratory Abnormalities:
increased serum creatine kinase

Skeletal:
joint contractures, mild

Muscle Soft Tissue:
easy fatigability
muscle biopsy shows dystrophic changes
muscular weakness, limb-girdle
difficulty walking, running, climbing stairs
muscle pseudohypertrophy
more
Skeletal Spine:
lumbar lordosis
rigid spine

Cardiovascular Heart:
cardiomyopathy (reported in 2 patients)


Clinical features from OMIM:

609308

Human phenotypes related to Muscular Dystrophy-Dystroglycanopathy , Type C, 1:

32 (show all 13)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 32 HP:0001249
2 microcephaly 32 HP:0000252
3 flexion contracture 32 HP:0001371
4 elevated serum creatine phosphokinase 32 HP:0003236
5 cardiomyopathy 32 occasional (7.5%) HP:0001638
6 difficulty walking 32 HP:0002355
7 spinal rigidity 32 HP:0003306
8 motor delay 32 HP:0001270
9 muscular dystrophy 32 HP:0003560
10 lumbar hyperlordosis 32 HP:0002938
11 difficulty climbing stairs 32 HP:0003551
12 easy fatigability 32 HP:0003388
13 limb-girdle muscle weakness 32 HP:0003325

Drugs & Therapeutics for Muscular Dystrophy-Dystroglycanopathy , Type C, 1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Congenital Muscle Disease Study of Patient and Family Reported Medical Information Recruiting NCT01403402

Search NIH Clinical Center for Muscular Dystrophy-Dystroglycanopathy , Type C, 1

Genetic Tests for Muscular Dystrophy-Dystroglycanopathy , Type C, 1

Genetic tests related to Muscular Dystrophy-Dystroglycanopathy , Type C, 1:

# Genetic test Affiliating Genes
1 Limb-Girdle Muscular Dystrophy-Dystroglycanopathy, Type C1 29 POMT1

Anatomical Context for Muscular Dystrophy-Dystroglycanopathy , Type C, 1

MalaCards organs/tissues related to Muscular Dystrophy-Dystroglycanopathy , Type C, 1:

41
Brain, Eye

Publications for Muscular Dystrophy-Dystroglycanopathy , Type C, 1

Variations for Muscular Dystrophy-Dystroglycanopathy , Type C, 1

UniProtKB/Swiss-Prot genetic disease variations for Muscular Dystrophy-Dystroglycanopathy , Type C, 1:

75
# Symbol AA change Variation ID SNP ID
1 POMT1 p.Ala200Pro VAR_022661 rs119462982

ClinVar genetic disease variations for Muscular Dystrophy-Dystroglycanopathy , Type C, 1:

6
(show top 50) (show all 134)
# Gene Variation Type Significance SNP ID Assembly Location
1 POMT1 NM_007171.3(POMT1): c.598G> C (p.Ala200Pro) single nucleotide variant Pathogenic rs119462982 GRCh37 Chromosome 9, 134385188: 134385188
2 POMT1 NM_007171.3(POMT1): c.598G> C (p.Ala200Pro) single nucleotide variant Pathogenic rs119462982 GRCh38 Chromosome 9, 131509801: 131509801
3 POMT1 NM_007171.3(POMT1): c.2005G> A (p.Ala669Thr) single nucleotide variant Pathogenic rs119462987 GRCh37 Chromosome 9, 134397547: 134397547
4 POMT1 NM_007171.3(POMT1): c.2005G> A (p.Ala669Thr) single nucleotide variant Pathogenic rs119462987 GRCh38 Chromosome 9, 131522160: 131522160
5 POMT1 NM_007171.3(POMT1): c.2167dupG (p.Asp723Glyfs) duplication Pathogenic rs398124245 GRCh37 Chromosome 9, 134398416: 134398416
6 POMT1 NM_007171.3(POMT1): c.2167dupG (p.Asp723Glyfs) duplication Pathogenic rs398124245 GRCh38 Chromosome 9, 131523029: 131523029
7 POMT1 NM_007171.3(POMT1): c.430A> G (p.Asn144Asp) single nucleotide variant Pathogenic rs397514501 GRCh37 Chromosome 9, 134384300: 134384300
8 POMT1 NM_007171.3(POMT1): c.430A> G (p.Asn144Asp) single nucleotide variant Pathogenic rs397514501 GRCh38 Chromosome 9, 131508913: 131508913
9 POMT1 NM_007171.3(POMT1): c.1241C> T (p.Thr414Met) single nucleotide variant Pathogenic rs397515400 GRCh37 Chromosome 9, 134388718: 134388718
10 POMT1 NM_007171.3(POMT1): c.1241C> T (p.Thr414Met) single nucleotide variant Pathogenic rs397515400 GRCh38 Chromosome 9, 131513331: 131513331
11 POMT1 NM_007171.3(POMT1): c.1611C> G (p.Ser537Arg) single nucleotide variant Benign/Likely benign rs150367385 GRCh38 Chromosome 9, 131519447: 131519447
12 POMT1 NM_007171.3(POMT1): c.1611C> G (p.Ser537Arg) single nucleotide variant Benign/Likely benign rs150367385 GRCh37 Chromosome 9, 134394834: 134394834
13 POMT1 NM_007171.3(POMT1): c.1764C> T (p.Ser588=) single nucleotide variant Conflicting interpretations of pathogenicity rs150814269 GRCh37 Chromosome 9, 134395580: 134395580
14 POMT1 NM_007171.3(POMT1): c.1764C> T (p.Ser588=) single nucleotide variant Conflicting interpretations of pathogenicity rs150814269 GRCh38 Chromosome 9, 131520193: 131520193
15 POMT1 NM_007171.3(POMT1): c.1723delC (p.Leu575Trpfs) deletion Pathogenic rs794727190 GRCh37 Chromosome 9, 134395539: 134395539
16 POMT1 NM_007171.3(POMT1): c.1723delC (p.Leu575Trpfs) deletion Pathogenic rs794727190 GRCh38 Chromosome 9, 131520152: 131520152
17 POMT1 NM_007171.3(POMT1): c.1864C> T (p.Arg622Ter) single nucleotide variant Pathogenic rs794727208 GRCh37 Chromosome 9, 134396832: 134396832
18 POMT1 NM_007171.3(POMT1): c.1864C> T (p.Arg622Ter) single nucleotide variant Pathogenic rs794727208 GRCh38 Chromosome 9, 131521445: 131521445
19 POMT1 NM_007171.3(POMT1): c.1958C> T (p.Pro653Leu) single nucleotide variant Pathogenic/Likely pathogenic rs149682171 GRCh37 Chromosome 9, 134397500: 134397500
20 POMT1 NM_007171.3(POMT1): c.1958C> T (p.Pro653Leu) single nucleotide variant Pathogenic/Likely pathogenic rs149682171 GRCh38 Chromosome 9, 131522113: 131522113
21 POMT1 NM_007171.3(POMT1): c.42C> T (p.Asp14=) single nucleotide variant Conflicting interpretations of pathogenicity rs150937126 GRCh37 Chromosome 9, 134379647: 134379647
22 POMT1 NM_007171.3(POMT1): c.42C> T (p.Asp14=) single nucleotide variant Conflicting interpretations of pathogenicity rs150937126 GRCh38 Chromosome 9, 131504260: 131504260
23 POMT1 NM_007171.3(POMT1): c.2163C> A (p.Tyr721Ter) single nucleotide variant Conflicting interpretations of pathogenicity rs138902646 GRCh37 Chromosome 9, 134398412: 134398412
24 POMT1 NM_007171.3(POMT1): c.2163C> A (p.Tyr721Ter) single nucleotide variant Conflicting interpretations of pathogenicity rs138902646 GRCh38 Chromosome 9, 131523025: 131523025
25 POMT1 NM_007171.3(POMT1): c.1052+9A> G single nucleotide variant Conflicting interpretations of pathogenicity rs202095070 GRCh37 Chromosome 9, 134386863: 134386863
26 POMT1 NM_007171.3(POMT1): c.1052+9A> G single nucleotide variant Conflicting interpretations of pathogenicity rs202095070 GRCh38 Chromosome 9, 131511476: 131511476
27 POMT1 NM_007171.3(POMT1): c.2125G> A (p.Ala709Thr) single nucleotide variant Uncertain significance rs535544133 GRCh38 Chromosome 9, 131522987: 131522987
28 POMT1 NM_007171.3(POMT1): c.2125G> A (p.Ala709Thr) single nucleotide variant Uncertain significance rs535544133 GRCh37 Chromosome 9, 134398374: 134398374
29 POMT1 NM_007171.3(POMT1): c.2233C> T (p.Arg745Ter) single nucleotide variant Uncertain significance rs202202445 GRCh38 Chromosome 9, 131523095: 131523095
30 POMT1 NM_007171.3(POMT1): c.2233C> T (p.Arg745Ter) single nucleotide variant Uncertain significance rs202202445 GRCh37 Chromosome 9, 134398482: 134398482
31 POMT1 NM_007171.3(POMT1): c.2244G> A (p.Ter748=) single nucleotide variant Conflicting interpretations of pathogenicity rs147143094 GRCh38 Chromosome 9, 131523106: 131523106
32 POMT1 NM_007171.3(POMT1): c.2244G> A (p.Ter748=) single nucleotide variant Conflicting interpretations of pathogenicity rs147143094 GRCh37 Chromosome 9, 134398493: 134398493
33 POMT1 NM_007171.3(POMT1): c.2126C> T (p.Ala709Val) single nucleotide variant Benign/Likely benign rs138171526 GRCh37 Chromosome 9, 134398375: 134398375
34 POMT1 NM_007171.3(POMT1): c.2126C> T (p.Ala709Val) single nucleotide variant Benign/Likely benign rs138171526 GRCh38 Chromosome 9, 131522988: 131522988
35 POMT1 NM_007171.3(POMT1): c.568C> T (p.Leu190=) single nucleotide variant Conflicting interpretations of pathogenicity rs752931210 GRCh37 Chromosome 9, 134385158: 134385158
36 POMT1 NM_007171.3(POMT1): c.568C> T (p.Leu190=) single nucleotide variant Conflicting interpretations of pathogenicity rs752931210 GRCh38 Chromosome 9, 131509771: 131509771
37 POMT1 NM_007171.3(POMT1): c.1215C> T (p.His405=) single nucleotide variant Conflicting interpretations of pathogenicity rs202121299 GRCh37 Chromosome 9, 134388692: 134388692
38 POMT1 NM_007171.3(POMT1): c.1215C> T (p.His405=) single nucleotide variant Conflicting interpretations of pathogenicity rs202121299 GRCh38 Chromosome 9, 131513305: 131513305
39 POMT1 NM_007171.3(POMT1): c.934C> T (p.Arg312Trp) single nucleotide variant Uncertain significance rs886042627 GRCh37 Chromosome 9, 134386736: 134386736
40 POMT1 NM_007171.3(POMT1): c.934C> T (p.Arg312Trp) single nucleotide variant Uncertain significance rs886042627 GRCh38 Chromosome 9, 131511349: 131511349
41 POMT1 NM_007171.3(POMT1): c.1998C> T (p.Tyr666=) single nucleotide variant Benign/Likely benign rs146512619 GRCh37 Chromosome 9, 134397540: 134397540
42 POMT1 NM_007171.3(POMT1): c.1998C> T (p.Tyr666=) single nucleotide variant Benign/Likely benign rs146512619 GRCh38 Chromosome 9, 131522153: 131522153
43 POMT1 NM_007171.3(POMT1): c.1192G> A (p.Gly398Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs146869947 GRCh37 Chromosome 9, 134388669: 134388669
44 POMT1 NM_007171.3(POMT1): c.1192G> A (p.Gly398Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs146869947 GRCh38 Chromosome 9, 131513282: 131513282
45 POMT1 NM_007171.3(POMT1): c.1861C> T (p.Arg621Trp) single nucleotide variant Uncertain significance rs150899645 GRCh37 Chromosome 9, 134396829: 134396829
46 POMT1 NM_007171.3(POMT1): c.1861C> T (p.Arg621Trp) single nucleotide variant Uncertain significance rs150899645 GRCh38 Chromosome 9, 131521442: 131521442
47 POMT1 NM_007171.3(POMT1): c.122+5G> A single nucleotide variant Uncertain significance rs376753193 GRCh37 Chromosome 9, 134379732: 134379732
48 POMT1 NM_007171.3(POMT1): c.122+5G> A single nucleotide variant Uncertain significance rs376753193 GRCh38 Chromosome 9, 131504345: 131504345
49 POMT1 NM_007171.3(POMT1): c.586G> A (p.Ala196Thr) single nucleotide variant Uncertain significance rs199498900 GRCh38 Chromosome 9, 131509789: 131509789
50 POMT1 NM_007171.3(POMT1): c.586G> A (p.Ala196Thr) single nucleotide variant Uncertain significance rs199498900 GRCh37 Chromosome 9, 134385176: 134385176

Expression for Muscular Dystrophy-Dystroglycanopathy , Type C, 1

Search GEO for disease gene expression data for Muscular Dystrophy-Dystroglycanopathy , Type C, 1.

Pathways for Muscular Dystrophy-Dystroglycanopathy , Type C, 1

Pathways related to Muscular Dystrophy-Dystroglycanopathy , Type C, 1 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.32 POMT1 POMT2
2 9.97 POMT1 POMT2

GO Terms for Muscular Dystrophy-Dystroglycanopathy , Type C, 1

Biological processes related to Muscular Dystrophy-Dystroglycanopathy , Type C, 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein glycosylation GO:0006486 9.37 POMT1 POMT2
2 protein O-linked glycosylation GO:0006493 9.32 POMT1 POMT2
3 mannosylation GO:0097502 9.26 POMT1 POMT2
4 protein O-linked mannosylation GO:0035269 9.16 POMT1 POMT2
5 ER-associated misfolded protein catabolic process GO:0071712 8.96 POMT1 POMT2
6 positive regulation of protein O-linked glycosylation GO:1904100 8.62 POMT1 POMT2

Molecular functions related to Muscular Dystrophy-Dystroglycanopathy , Type C, 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mannosyltransferase activity GO:0000030 8.96 POMT1 POMT2
2 dolichyl-phosphate-mannose-protein mannosyltransferase activity GO:0004169 8.62 POMT1 POMT2

Sources for Muscular Dystrophy-Dystroglycanopathy , Type C, 1

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