MCID: CNG550
MIFTS: 30

Congenital Muscular Dystrophy-Dystroglycanopathy A14

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

Aliases & Classifications for Congenital Muscular Dystrophy-Dystroglycanopathy A14

MalaCards integrated aliases for Congenital Muscular Dystrophy-Dystroglycanopathy A14:

Name: Congenital Muscular Dystrophy-Dystroglycanopathy A14 12 15
Congenital Muscular Dystrophy-Dystroglycanopathy with Brain and Eye Anomalies Type a 14 6
Congenital Muscular Dystrophy-Dystroglycanopathy with Brain and Eye Anomalies Type A14 12
Walker-Warburg Syndrome or Muscle-Eye-Brain Disease Gmppb-Related 12
Mddga14 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0111233

Summaries for Congenital Muscular Dystrophy-Dystroglycanopathy A14

Disease Ontology : 12 A congenital muscular dystrophy-dystroglycanopathy type A that has material basis in homozygous or compound heterozygous mutation in in GMPPB on 3p21.31.

MalaCards based summary : Congenital Muscular Dystrophy-Dystroglycanopathy A14, also known as congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type a 14, is related to muscular dystrophy-dystroglycanopathy , type a, 14 and muscular dystrophy-dystroglycanopathy , type c, 1. An important gene associated with Congenital Muscular Dystrophy-Dystroglycanopathy A14 is GMPPB (GDP-Mannose Pyrophosphorylase B), and among its related pathways/superpathways are ECM proteoglycans and Agrin Interactions at Neuromuscular Junction. Affiliated tissues include eye and brain, and related phenotype is muscle.

Related Diseases for Congenital Muscular Dystrophy-Dystroglycanopathy A14

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 A14 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 54)
# Related Disease Score Top Affiliating Genes
1 muscular dystrophy-dystroglycanopathy , type a, 14 11.4
2 muscular dystrophy-dystroglycanopathy , type c, 1 10.2 GMPPB DAG1
3 muscular dystrophy-dystroglycanopathy , type c, 9 10.1 GMPPB DAG1
4 muscular dystrophy-dystroglycanopathy , type c, 2 10.1 GMPPB DAG1
5 muscular dystrophy-dystroglycanopathy , type c, 4 10.1 GMPPB DAG1
6 muscular disease 10.1 LAMA2 DAG1
7 autosomal recessive limb-girdle muscular dystrophy type 2c 10.1 LAMA2 DAG1
8 cardiomyopathy, dilated, 1d 10.0 LAMA2 DAG1
9 autosomal recessive limb-girdle muscular dystrophy type 2a 10.0 LAMA2 DAG1
10 myopathy, congenital, bailey-bloch 10.0 SELENON CCDC78
11 muscular dystrophy, congenital, due to integrin alpha-7 deficiency 10.0 LAMA2 DAG1
12 muscular dystrophy-dystroglycanopathy , type b, 5 10.0 LAMA2 DAG1
13 autosomal recessive limb-girdle muscular dystrophy type 2d 10.0 LAMA2 DAG1
14 creatine phosphokinase, elevated serum 10.0 LAMA2 GMPPB
15 autosomal recessive limb-girdle muscular dystrophy type 2b 10.0 LAMA2 DAG1
16 muscular dystrophy-dystroglycanopathy , type c, 3 9.9 GMPPB DAG1
17 muscular dystrophy-dystroglycanopathy , type c, 5 9.9 LAMA2 DAG1
18 muscular dystrophy-dystroglycanopathy 9.9 LAMA2 GMPPB DAG1
19 congenital muscular dystrophy-dystroglycanopathy type a 9.9 LAMA2 GMPPB DAG1
20 congenital structural myopathy 9.9 SELENON KBTBD13
21 muscular dystrophy, becker type 9.9 LAMA2 DAG1
22 muscular dystrophy, congenital, 1b 9.9 LAMA2 GMPPB DAG1
23 muscular dystrophy-dystroglycanopathy , type a, 4 9.9 LAMA2 GMPPB DAG1
24 muscle eye brain disease 9.9 LAMA2 GMPPB DAG1
25 autosomal recessive limb-girdle muscular dystrophy 9.9 LAMA2 GMPPB DAG1
26 muscular dystrophy, limb-girdle, autosomal recessive 2 9.9 LAMA2 GMPPB DAG1
27 congenital muscular dystrophy-dystroglycanopathy type a11 9.8 SELENON DAG1 CCDC78
28 muscular dystrophy, congenital merosin-deficient, 1a 9.8 SELENON LAMA2 DAG1
29 rigid spine muscular dystrophy 1 9.8 SELENON LAMA2 DAG1
30 ullrich congenital muscular dystrophy 1 9.8 SELENON LAMA2 DAG1
31 myopathy, myofibrillar, 8 9.8 CCDC78 ALG14
32 cerebellar hypoplasia 9.8 LAMA2 GMPPB
33 bethlem myopathy 1 9.8 SELENON LAMA2 DAG1
34 muscle tissue disease 9.8 SELENON LAMA2 DAG1
35 myopathy, centronuclear, 4 9.8 CCDC78 ALG14
36 myasthenic syndrome, congenital, 14 9.8 CCDC78 ALG14
37 myopathy, centronuclear, 5 9.8 CCDC78 ALG14
38 congenital myasthenic syndromes with glycosylation defect 9.8 GMPPB ALG14
39 myopathy, myofibrillar, 7 9.8 CCDC78 ALG14
40 muscular dystrophy-dystroglycanopathy , type c, 14 9.7 GMPPB DAG1 ALG14
41 neuromuscular junction disease 9.7 GMPPB DAG1 ALG14
42 batten-turner congenital myopathy 9.7 SELENON KBTBD13 CCDC78
43 centronuclear myopathy 9.7 SELENON KBTBD13 CCDC78
44 muscular dystrophy 9.7 SELENON LAMA2 GMPPB DAG1
45 isolated elevated serum creatine phosphokinase levels 9.6 SELENON LAMA2 GMPPB DAG1
46 muscular dystrophy, congenital, lmna-related 9.6 SELENON LAMA2 GMPPB DAG1
47 congenital disorder of glycosylation, type in 9.5 DAG1 ALG14
48 congenital muscular dystrophy-dystroglycanopathy type a10 9.5 SELENON LAMA2 KBTBD13 CCDC78
49 congenital fiber-type disproportion 9.4 SELENON LAMA2 KBTBD13 CCDC78
50 malignant hyperthermia 9.4 SELENON LAMA2 KBTBD13 CCDC78

Graphical network of the top 20 diseases related to Congenital Muscular Dystrophy-Dystroglycanopathy A14:



Diseases related to Congenital Muscular Dystrophy-Dystroglycanopathy A14

Symptoms & Phenotypes for Congenital Muscular Dystrophy-Dystroglycanopathy A14

MGI Mouse Phenotypes related to Congenital Muscular Dystrophy-Dystroglycanopathy A14:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 8.92 DAG1 KBTBD13 LAMA2 SELENON

Drugs & Therapeutics for Congenital Muscular Dystrophy-Dystroglycanopathy A14

Search Clinical Trials , NIH Clinical Center for Congenital Muscular Dystrophy-Dystroglycanopathy A14

Genetic Tests for Congenital Muscular Dystrophy-Dystroglycanopathy A14

Anatomical Context for Congenital Muscular Dystrophy-Dystroglycanopathy A14

MalaCards organs/tissues related to Congenital Muscular Dystrophy-Dystroglycanopathy A14:

40
Eye, Brain

Publications for Congenital Muscular Dystrophy-Dystroglycanopathy A14

Articles related to Congenital Muscular Dystrophy-Dystroglycanopathy A14:

(show all 14)
# Title Authors PMID Year
1
Broad phenotypic spectrum and genotype-phenotype correlations in GMPPB-related dystroglycanopathies: an Italian cross-sectional study. 6
30257713 2018
2
Mobility shift of beta-dystroglycan as a marker of GMPPB gene-related muscular dystrophy. 6
29437916 2018
3
Comprehensive use of extended exome analysis improves diagnostic yield in rare disease: a retrospective survey in 1,059 cases. 6
28914264 2018
4
Two patients with GMPPB mutation: The overlapping phenotypes of limb-girdle myasthenic syndrome and limb-girdle muscular dystrophy dystroglycanopathy. 6
27874200 2017
5
Late-onset limb-girdle muscular dystrophy caused by GMPPB mutations. 6
28478914 2017
6
Novel mutations in the C-terminal region of GMPPB causing limb-girdle muscular dystrophy overlapping with congenital myasthenic syndrome. 6
28433477 2017
7
Muscle involvement in limb-girdle muscular dystrophy with GMPPB deficiency (LGMD2T). 6
27766311 2016
8
GMPPB-Associated Dystroglycanopathy: Emerging Common Variants with Phenotype Correlation. 6
26310427 2015
9
Mutations in GMPPB cause congenital myasthenic syndrome and bridge myasthenic disorders with dystroglycanopathies. 6
26133662 2015
10
Intrafamilial variability in GMPPB-associated dystroglycanopathy: Broadening of the phenotype. 6
25770200 2015
11
Expanding the phenotype of GMPPB mutations. 6
25681410 2015
12
Congenital muscular dystrophy and generalized epilepsy caused by GMPPB mutations. 6
24780531 2014
13
Mutations in GDP-mannose pyrophosphorylase B cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of α-dystroglycan. 6
23768512 2013
14
Flow cytometry for the analysis of α-dystroglycan glycosylation in fibroblasts from patients with dystroglycanopathies. 6
23894383 2013

Variations for Congenital Muscular Dystrophy-Dystroglycanopathy A14

ClinVar genetic disease variations for Congenital Muscular Dystrophy-Dystroglycanopathy A14:

6 (show top 50) (show all 106)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 GMPPB NM_021971.4(GMPPB):c.456_457CA[1] (p.Thr153fs) Microsatellite Pathogenic 474017 rs1553691918 GRCh37: 3:49760131-49760132
GRCh38: 3:49722698-49722699
2 GMPPB NM_021971.4(GMPPB):c.220C>T (p.Arg74Ter) SNV Pathogenic 60541 rs397509423 GRCh37: 3:49760726-49760726
GRCh38: 3:49723293-49723293
3 GMPPB NM_021971.4(GMPPB):c.365_366dup (p.Phe123fs) Duplication Pathogenic 474016 rs1553691975 GRCh37: 3:49760440-49760441
GRCh38: 3:49723007-49723008
4 GMPPB NM_021971.4(GMPPB):c.790C>T (p.Gln264Ter) SNV Pathogenic 571713 rs763971677 GRCh37: 3:49759559-49759559
GRCh38: 3:49722126-49722126
5 GMPPB NM_021971.4(GMPPB):c.109C>T (p.Gln37Ter) SNV Pathogenic 647358 rs1348189028 GRCh37: 3:49761051-49761051
GRCh38: 3:49723618-49723618
6 GMPPB NM_021971.4(GMPPB):c.271_283del (p.Ala91fs) Deletion Pathogenic 663873 rs1191822017 GRCh37: 3:49760524-49760536
GRCh38: 3:49723091-49723103
7 GMPPB NM_021971.4(GMPPB):c.656T>C (p.Ile219Thr) SNV Pathogenic 575991 rs761714818 GRCh37: 3:49759776-49759776
GRCh38: 3:49722343-49722343
8 GMPPB NM_021971.4(GMPPB):c.728_746delinsACAGA (p.Arg243fs) Indel Pathogenic 966838 GRCh37: 3:49759686-49759704
GRCh38: 3:49722253-49722271
9 GMPPB NM_021971.4(GMPPB):c.553C>T (p.Arg185Cys) SNV Pathogenic 60543 rs397509425 GRCh37: 3:49760037-49760037
GRCh38: 3:49722604-49722604
10 GMPPB NM_021971.4(GMPPB):c.1000G>A (p.Asp334Asn) SNV Pathogenic 60540 rs397509422 GRCh37: 3:49759268-49759268
GRCh38: 3:49721835-49721835
11 GMPPB NM_021971.4(GMPPB):c.860G>A (p.Arg287Gln) SNV Pathogenic 60545 rs202160208 GRCh37: 3:49759489-49759489
GRCh38: 3:49722056-49722056
12 GMPPB NM_021971.4(GMPPB):c.79G>C (p.Asp27His) SNV Pathogenic 60546 rs142336618 GRCh37: 3:49761081-49761081
GRCh38: 3:49723648-49723648
13 GMPPB NM_021971.4(GMPPB):c.859C>T (p.Arg287Trp) SNV Pathogenic 225925 rs142908436 GRCh37: 3:49759490-49759490
GRCh38: 3:49722057-49722057
14 GMPPB NM_021971.4(GMPPB):c.988G>A (p.Val330Ile) SNV Likely pathogenic 60547 rs199922550 GRCh37: 3:49759280-49759280
GRCh38: 3:49721847-49721847
15 GMPPB NM_021971.4(GMPPB):c.988G>A (p.Val330Ile) SNV Likely pathogenic 60547 rs199922550 GRCh37: 3:49759280-49759280
GRCh38: 3:49721847-49721847
16 GMPPB NM_021971.4(GMPPB):c.402+1G>A SNV Likely pathogenic 570106 rs145564018 GRCh37: 3:49760404-49760404
GRCh38: 3:49722971-49722971
17 GMPPB NM_021971.4(GMPPB):c.1000G>A (p.Asp334Asn) SNV Likely pathogenic 60540 rs397509422 GRCh37: 3:49759268-49759268
GRCh38: 3:49721835-49721835
18 GMPPB NM_021971.4(GMPPB):c.395C>G (p.Ser132Cys) SNV Likely pathogenic 640100 rs145535498 GRCh37: 3:49760412-49760412
GRCh38: 3:49722979-49722979
19 GMPPB NM_021971.4(GMPPB):c.458C>T (p.Thr153Ile) SNV Likely pathogenic 638638 rs202013297 GRCh37: 3:49760132-49760132
GRCh38: 3:49722699-49722699
20 GMPPB NM_021971.4(GMPPB):c.1070G>A (p.Arg357His) SNV Likely pathogenic 581597 rs771861177 GRCh37: 3:49759198-49759198
GRCh38: 3:49721765-49721765
21 GMPPB NM_021971.4(GMPPB):c.640+1G>A SNV Likely pathogenic 640954 rs141588721 GRCh37: 3:49759864-49759864
GRCh38: 3:49722431-49722431
22 GMPPB NM_021971.4(GMPPB):c.937C>T (p.Arg313Cys) SNV Uncertain significance 643311 rs144421130 GRCh37: 3:49759412-49759412
GRCh38: 3:49721979-49721979
23 GMPPB NM_021971.4(GMPPB):c.304G>C (p.Asp102His) SNV Uncertain significance 643979 rs368542417 GRCh37: 3:49760503-49760503
GRCh38: 3:49723070-49723070
24 GMPPB NM_021971.4(GMPPB):c.812A>G (p.Asn271Ser) SNV Uncertain significance 645452 rs370840899 GRCh37: 3:49759537-49759537
GRCh38: 3:49722104-49722104
25 GMPPB NM_021971.4(GMPPB):c.116A>G (p.Glu39Gly) SNV Uncertain significance 646328 rs1575297274 GRCh37: 3:49761044-49761044
GRCh38: 3:49723611-49723611
26 GMPPB NM_021971.4(GMPPB):c.757A>G (p.Asn253Asp) SNV Uncertain significance 647250 rs1015055492 GRCh37: 3:49759675-49759675
GRCh38: 3:49722242-49722242
27 GMPPB NM_021971.4(GMPPB):c.94C>T (p.Pro32Ser) SNV Uncertain significance 654897 rs1575297292 GRCh37: 3:49761066-49761066
GRCh38: 3:49723633-49723633
28 GMPPB NM_021971.4(GMPPB):c.473G>C (p.Arg158Pro) SNV Uncertain significance 657979 rs374497499 GRCh37: 3:49760117-49760117
GRCh38: 3:49722684-49722684
29 GMPPB NM_021971.4(GMPPB):c.863G>C (p.Arg288Pro) SNV Uncertain significance 660239 rs769346834 GRCh37: 3:49759486-49759486
GRCh38: 3:49722053-49722053
30 GMPPB NM_021971.4(GMPPB):c.160A>C (p.Ser54Arg) SNV Uncertain significance 664971 rs145671483 GRCh37: 3:49760875-49760875
GRCh38: 3:49723442-49723442
31 GMPPB NM_021971.4(GMPPB):c.792G>C (p.Gln264His) SNV Uncertain significance 573725 rs1559696652 GRCh37: 3:49759557-49759557
GRCh38: 3:49722124-49722124
32 GMPPB NM_021971.4(GMPPB):c.62C>A (p.Thr21Asn) SNV Uncertain significance 574966 rs1438380704 GRCh37: 3:49761098-49761098
GRCh38: 3:49723665-49723665
33 GMPPB NM_021971.4(GMPPB):c.215G>A (p.Gly72Glu) SNV Uncertain significance 566118 rs1245162935 GRCh37: 3:49760731-49760731
GRCh38: 3:49723298-49723298
34 GMPPB NM_021971.4(GMPPB):c.287_307del (p.Leu96_Asp102del) Deletion Uncertain significance 566671 rs1559697587 GRCh37: 3:49760500-49760520
GRCh38: 3:49723067-49723087
35 GMPPB NM_021971.4(GMPPB):c.569C>G (p.Pro190Arg) SNV Uncertain significance 566780 rs1559697016 GRCh37: 3:49759936-49759936
GRCh38: 3:49722503-49722503
36 GMPPB NM_021971.4(GMPPB):c.1077C>G (p.Ile359Met) SNV Uncertain significance 474013 rs1553691662 GRCh37: 3:49759191-49759191
GRCh38: 3:49721758-49721758
37 GMPPB NM_021971.4(GMPPB):c.831C>T (p.Gly277=) SNV Uncertain significance 474021 rs763262592 GRCh37: 3:49759518-49759518
GRCh38: 3:49722085-49722085
38 GMPPB NM_021971.4(GMPPB):c.331G>A (p.Val111Met) SNV Uncertain significance 474015 rs141201072 GRCh37: 3:49760476-49760476
GRCh38: 3:49723043-49723043
39 GMPPB NM_021971.4(GMPPB):c.607_609del (p.Lys203del) Deletion Uncertain significance 474020 rs1553691853 GRCh37: 3:49759896-49759898
GRCh38: 3:49722463-49722465
40 GMPPB NM_021971.4(GMPPB):c.1009T>C (p.Tyr337His) SNV Uncertain significance 541074 rs1553691683 GRCh37: 3:49759259-49759259
GRCh38: 3:49721826-49721826
41 GMPPB NM_021971.4(GMPPB):c.877C>T (p.Arg293Trp) SNV Uncertain significance 541075 rs756682220 GRCh37: 3:49759472-49759472
GRCh38: 3:49722039-49722039
42 GMPPB NM_021971.4(GMPPB):c.218T>C (p.Ile73Thr) SNV Uncertain significance 541076 rs1553692045 GRCh37: 3:49760728-49760728
GRCh38: 3:49723295-49723295
43 GMPPB NM_021971.4(GMPPB):c.956G>A (p.Arg319His) SNV Uncertain significance 541079 rs768327938 GRCh37: 3:49759312-49759312
GRCh38: 3:49721879-49721879
44 GMPPB NM_021971.4(GMPPB):c.758A>G (p.Asn253Ser) SNV Uncertain significance 581654 rs1559696765 GRCh37: 3:49759674-49759674
GRCh38: 3:49722241-49722241
45 GMPPB NM_021971.4(GMPPB):c.129+5G>A SNV Uncertain significance 971209 GRCh37: 3:49761026-49761026
GRCh38: 3:49723593-49723593
46 GMPPB NM_021971.4(GMPPB):c.589G>T (p.Val197Phe) SNV Uncertain significance 843614 GRCh37: 3:49759916-49759916
GRCh38: 3:49722483-49722483
47 GMPPB NM_021971.4(GMPPB):c.1040A>G (p.Lys347Arg) SNV Uncertain significance 847720 GRCh37: 3:49759228-49759228
GRCh38: 3:49721795-49721795
48 GMPPB NM_021971.4(GMPPB):c.887G>A (p.Arg296Gln) SNV Uncertain significance 852301 GRCh37: 3:49759462-49759462
GRCh38: 3:49722029-49722029
49 GMPPB NM_021971.4(GMPPB):c.641-19_641-9del Deletion Uncertain significance 856278 GRCh37: 3:49759800-49759810
GRCh38: 3:49722367-49722377
50 GMPPB NM_021971.4(GMPPB):c.535A>G (p.Ser179Gly) SNV Uncertain significance 858995 GRCh37: 3:49760055-49760055
GRCh38: 3:49722622-49722622

Expression for Congenital Muscular Dystrophy-Dystroglycanopathy A14

Search GEO for disease gene expression data for Congenital Muscular Dystrophy-Dystroglycanopathy A14.

Pathways for Congenital Muscular Dystrophy-Dystroglycanopathy A14

Pathways related to Congenital Muscular Dystrophy-Dystroglycanopathy A14 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.91 LAMA2 DAG1
2 10.71 LAMA2 DAG1
3 9.9 LAMA2 DAG1

GO Terms for Congenital Muscular Dystrophy-Dystroglycanopathy A14

Cellular components related to Congenital Muscular Dystrophy-Dystroglycanopathy A14 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 basement membrane GO:0005604 8.96 LAMA2 DAG1
2 sarcolemma GO:0042383 8.8 LAMA2 DAG1 CCDC78

Biological processes related to Congenital Muscular Dystrophy-Dystroglycanopathy A14 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 Schwann cell differentiation GO:0014037 8.62 LAMA2 DAG1

Sources for Congenital Muscular Dystrophy-Dystroglycanopathy A14

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
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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