MDCI
MCID: MSC164
MIFTS: 47

Muscular Dystrophy, Congenital, Due to Integrin Alpha-7 Deficiency (MDCI)

Categories: Genetic diseases, Muscle diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Muscular Dystrophy, Congenital, Due to Integrin Alpha-7...

MalaCards integrated aliases for Muscular Dystrophy, Congenital, Due to Integrin Alpha-7 Deficiency:

Name: Muscular Dystrophy, Congenital, Due to Integrin Alpha-7 Deficiency 57 20 29 6
Congenital Muscular Dystrophy with Integrin Alpha-7 Deficiency 12 20 58
Muscular Dystrophy, Congenital, Due to Itga7 Deficiency 57 20 13
Congenital Muscular Dystrophy with Itga7 Deficiency 12 20 58
Congenital Muscular Dystrophy Due to Integrin Alpha-7 Deficiency 12 15
Congenital Myopathy Due to Integrin Alpha-7 Deficiency 12 72
Dystrophy, Muscular, Congenital, Due to Integrin Alpha-7 Deficiency 39
Muscular Dystrophy Congenital Due to Integrin Alpha-7 Deficiency 72
Myopathy, Congenital, Due to Integrin Alpha-7 Deficiency 57
Mdci 72

Characteristics:

Orphanet epidemiological data:

58
congenital muscular dystrophy with integrin alpha-7 deficiency
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy
three unrelated patients have been reported (last curated january 2010)


HPO:

31
muscular dystrophy, congenital, due to integrin alpha-7 deficiency:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset


Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0110639
OMIM® 57 613204
MeSH 44 D009136
ICD10 32 G71.2
ICD10 via Orphanet 33 G71.2
UMLS via Orphanet 71 C2750786
Orphanet 58 ORPHA34520

Summaries for Muscular Dystrophy, Congenital, Due to Integrin Alpha-7...

UniProtKB/Swiss-Prot : 72 Muscular dystrophy congenital due to integrin alpha-7 deficiency: A form of congenital muscular dystrophy. Patients present at birth, or within the first few months of life, with hypotonia, muscle weakness and often with joint contractures.

MalaCards based summary : Muscular Dystrophy, Congenital, Due to Integrin Alpha-7 Deficiency, also known as congenital muscular dystrophy with integrin alpha-7 deficiency, is related to brazilian hemorrhagic fever and diffuse mesangial sclerosis. An important gene associated with Muscular Dystrophy, Congenital, Due to Integrin Alpha-7 Deficiency is ITGA7 (Integrin Subunit Alpha 7), and among its related pathways/superpathways are ERK Signaling and Developmental Biology. Affiliated tissues include skeletal muscle, and related phenotypes are cognitive impairment and intellectual disability

Disease Ontology : 12 A congenital muscular dystrophy characterized by autosomal recessive inheritance that has material basis in compound heterozygous mutation in the ITGA7 gene on chromosome 12q13.

More information from OMIM: 613204

Related Diseases for Muscular Dystrophy, Congenital, Due to Integrin Alpha-7...

Diseases related to Muscular Dystrophy, Congenital, Due to Integrin Alpha-7 Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 26)
# Related Disease Score Top Affiliating Genes
1 brazilian hemorrhagic fever 10.2 DAG1 CRPPA
2 diffuse mesangial sclerosis 10.1 LAMC1 LAMB1
3 muscular dystrophy-dystroglycanopathy , type b, 6 10.1 DAG1 CRPPA
4 congenital muscular dystrophy-dystroglycanopathy a14 10.1 LAMA2 DAG1
5 cobblestone lissencephaly 10.1 DAG1 CRPPA
6 autosomal recessive limb-girdle muscular dystrophy type 2c 10.1 LAMA2 DAG1
7 autosomal recessive limb-girdle muscular dystrophy type 2a 10.0 LAMA2 DAG1
8 muscular dystrophy, congenital, 1b 10.0 LAMA2 ITGA7 DAG1
9 muscular dystrophy-dystroglycanopathy 10.0 LAMA2 DAG1 CRPPA
10 cardiomyopathy, dilated, 1d 10.0 LAMA2 ITGA7 DAG1
11 congenital muscular dystrophy-dystroglycanopathy type a 10.0 LAMA2 DAG1 CRPPA
12 muscular dystrophy-dystroglycanopathy , type c, 5 10.0 LAMA2 DAG1 CRPPA
13 ullrich congenital muscular dystrophy 1 10.0 LAMA2 ITGA7 DAG1
14 muscular dystrophy-dystroglycanopathy , type b, 5 9.9 LAMA2 DAG1
15 bethlem myopathy 1 9.9 LAMA2 ITGA7 DAG1
16 autosomal recessive limb-girdle muscular dystrophy 9.9 LAMA2 DAG1 CRPPA
17 autosomal recessive limb-girdle muscular dystrophy type 2d 9.9 LAMA2 DAG1
18 muscular dystrophy, limb-girdle, autosomal recessive 2 9.9 LAMA2 DAG1 CRPPA
19 muscular dystrophy, duchenne type 9.9 LAMA2 ITGA7 DAG1
20 muscular dystrophy-dystroglycanopathy , type a, 4 9.9 LAMA2 ITGA7 DAG1 CRPPA
21 muscular dystrophy, congenital merosin-deficient, 1a 9.9 LAMA2 LAMA1 ITGA7 DAG1
22 lissencephaly 9.8 TUBA4A LAMB1 DAG1 CRPPA
23 walker-warburg syndrome 9.8 LAMA2 ITGA7 DAG1 CRPPA
24 autosomal recessive limb-girdle muscular dystrophy type 2b 9.7 LAMA2 DAG1
25 muscular dystrophy, congenital, lmna-related 9.7 LAMA2 ITGA7 DAG1
26 muscular dystrophy 9.6 LAMB1 LAMA2 LAMA1 ITGA7 DAG1 CRPPA

Graphical network of the top 20 diseases related to Muscular Dystrophy, Congenital, Due to Integrin Alpha-7 Deficiency:



Diseases related to Muscular Dystrophy, Congenital, Due to Integrin Alpha-7 Deficiency

Symptoms & Phenotypes for Muscular Dystrophy, Congenital, Due to Integrin Alpha-7...

Human phenotypes related to Muscular Dystrophy, Congenital, Due to Integrin Alpha-7 Deficiency:

31 (show all 13)
# Description HPO Frequency HPO Source Accession
1 cognitive impairment 31 frequent (33%) HP:0100543
2 intellectual disability 31 HP:0001249
3 scoliosis 31 HP:0002650
4 muscle weakness 31 HP:0001324
5 neonatal hypotonia 31 HP:0001319
6 myopathy 31 HP:0003198
7 skeletal muscle atrophy 31 HP:0003202
8 elevated serum creatine kinase 31 HP:0003236
9 motor delay 31 HP:0001270
10 congenital muscular dystrophy 31 HP:0003741
11 increased variability in muscle fiber diameter 31 HP:0003557
12 infantile muscular hypotonia 31 HP:0008947
13 fatty replacement of skeletal muscle 31 HP:0012548

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Skeletal Spine:
scoliosis

Muscle Soft Tissue:
muscle atrophy
dystrophic changes, mild, seen on muscle biopsy
hypotonia, neonatal
muscle weakness, predominantly proximal
lack of integrin alpha-7 staining

Respiratory:
dyspnea due to respiratory muscle weakness

Neurologic Central Nervous System:
delayed motor development
cognitive impairment (in 1 of 3 patients)

Laboratory Abnormalities:
increased serum creatine kinase

Clinical features from OMIM®:

613204 (Updated 05-Apr-2021)

GenomeRNAi Phenotypes related to Muscular Dystrophy, Congenital, Due to Integrin Alpha-7 Deficiency according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Synthetic lethal with gemcitabine GR00101-A-2 8.62 EPHA1 FURIN

MGI Mouse Phenotypes related to Muscular Dystrophy, Congenital, Due to Integrin Alpha-7 Deficiency:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.97 DAG1 FURIN ITGA5 ITGA7 LAMA1 LAMC1
2 mortality/aging MP:0010768 9.93 CRPPA DAG1 FURIN ITGA5 ITGA7 LAMA1
3 embryo MP:0005380 9.8 DAG1 FURIN ITGA5 LAMA1 LAMB1 LAMC1
4 nervous system MP:0003631 9.65 CRPPA DAG1 FURIN ITGA5 ITGA7 LAMA1
5 normal MP:0002873 9.17 DAG1 FURIN ITGA5 LAMA1 LAMC1 MMP15

Drugs & Therapeutics for Muscular Dystrophy, Congenital, Due to Integrin Alpha-7...

Search Clinical Trials , NIH Clinical Center for Muscular Dystrophy, Congenital, Due to Integrin Alpha-7 Deficiency

Genetic Tests for Muscular Dystrophy, Congenital, Due to Integrin Alpha-7...

Genetic tests related to Muscular Dystrophy, Congenital, Due to Integrin Alpha-7 Deficiency:

# Genetic test Affiliating Genes
1 Muscular Dystrophy, Congenital, Due to Integrin Alpha-7 Deficiency 29 ITGA7

Anatomical Context for Muscular Dystrophy, Congenital, Due to Integrin Alpha-7...

MalaCards organs/tissues related to Muscular Dystrophy, Congenital, Due to Integrin Alpha-7 Deficiency:

40
Skeletal Muscle

Publications for Muscular Dystrophy, Congenital, Due to Integrin Alpha-7...

Articles related to Muscular Dystrophy, Congenital, Due to Integrin Alpha-7 Deficiency:

(show all 14)
# Title Authors PMID Year
1
Mutations in the integrin alpha7 gene cause congenital myopathy. 57 6
9590299 1998
2
Congenital muscular dystrophy. Part I: a review of phenotypical and diagnostic aspects. 57
19330236 2009
3
'Congenital muscular dystrophy caused by integrin alpha7 deficiency'. 57
19260934 2009
4
Absence of integrin alpha 7 causes a novel form of muscular dystrophy. 57
9354797 1997
5
Cognitive impairment and its neuroimaging correlates in spinocerebellar ataxia 2. 61
33756405 2021
6
Insulin-like Growth Factor-1 and IGF Binding Proteins Predict All-Cause Mortality and Morbidity in Older Adults. 61
32492897 2020
7
The efficacy and safety comparison of first-line chemotherapeutic agents (high-dose methotrexate, doxorubicin, cisplatin, and ifosfamide) for osteosarcoma: a network meta-analysis. 61
32054494 2020
8
Feasibility and accuracy of 64-row MDCT coronary imaging from a centre with early experience: a review and comparison with established centres. 61
16515115 2005
9
Novel binding of beryllium to dicarboxyimidazole-based model compounds and polymers. 61
16060628 2005
10
Functional evaluation of the genes involved in malonate decarboxylation by Acinetobacter calcoaceticus. 61
10561613 1999
11
Structural abnormalities underlying alveolar hypoventilation and fluid imbalance in the dystrophic hamster lung. 61
10521788 1999
12
Synthesis and characterization of segmented polyurethanes based on amphiphilic polyether diols. 61
8968523 1996
13
Movement disorders in ischemic stroke: clinical study of 22 patients. 61
24283782 1995
14
The Minnesota Child Development Inventory: a valid maternal-report form for assessing development in infancy. 61
2429993 1986

Variations for Muscular Dystrophy, Congenital, Due to Integrin Alpha-7...

ClinVar genetic disease variations for Muscular Dystrophy, Congenital, Due to Integrin Alpha-7 Deficiency:

6 (show top 50) (show all 293)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ITGA7 NM_002206.3(ITGA7):c.1506-2A>G SNV Pathogenic 9049 rs1565627745 GRCh37: 12:56091063-56091063
GRCh38: 12:55697279-55697279
2 ITGA7 NM_002206.3(ITGA7):c.1205del (p.Gly402fs) Deletion Pathogenic 9051 rs1565629479 GRCh37: 12:56091798-56091798
GRCh38: 12:55698014-55698014
3 ITGA7 NM_002206.3(ITGA7):c.1446_1453del (p.Ile483fs) Deletion Pathogenic 470565 rs1474512248 GRCh37: 12:56091287-56091294
GRCh38: 12:55697503-55697510
4 ITGA7 NM_002206.3(ITGA7):c.1072dup (p.Tyr358fs) Duplication Pathogenic 537990 rs750756707 GRCh37: 12:56092286-56092287
GRCh38: 12:55698502-55698503
5 ITGA7 NM_002206.3(ITGA7):c.1456C>T (p.Arg486Ter) SNV Pathogenic 537989 rs372328960 GRCh37: 12:56091284-56091284
GRCh38: 12:55697500-55697500
6 ITGA7 NM_002206.3(ITGA7):c.1088dup (p.His364fs) Duplication Pathogenic 129291 rs587780362 GRCh37: 12:56092270-56092271
GRCh38: 12:55698486-55698487
7 ITGA7 ITGA7, IVSDS, T-C, +2 SNV Pathogenic 9050 GRCh37:
GRCh38:
8 ITGA7 NC_000012.12:g.(?_55697675)_(55698937_?)del Deletion Pathogenic 470560 GRCh37: 12:56091459-56092721
GRCh38: 12:55697675-55698937
9 ITGA7 NM_002206.3(ITGA7):c.207G>A (p.Trp69Ter) SNV Pathogenic 838697 GRCh37: 12:56096962-56096962
GRCh38: 12:55703178-55703178
10 ITGA7 NM_002206.3(ITGA7):c.2169_2171del (p.Tyr723_Ser724delinsTer) Deletion Pathogenic 842929 GRCh37: 12:56088587-56088589
GRCh38: 12:55694803-55694805
11 ITGA7 NM_002206.3(ITGA7):c.2392C>T (p.Arg798Ter) SNV Pathogenic 844274 GRCh37: 12:56088080-56088080
GRCh38: 12:55694296-55694296
12 ITGA7 NM_002206.3(ITGA7):c.3075C>G (p.Tyr1025Ter) SNV Pathogenic 936675 GRCh37: 12:56081863-56081863
GRCh38: 12:55688079-55688079
13 ITGA7 NM_002206.3(ITGA7):c.427C>T (p.Arg143Ter) SNV Pathogenic 638329 rs17854600 GRCh37: 12:56094926-56094926
GRCh38: 12:55701142-55701142
14 ITGA7 NM_002206.3(ITGA7):c.29G>A (p.Trp10Ter) SNV Pathogenic 971915 GRCh37: 12:56101438-56101438
GRCh38: 12:55707654-55707654
15 CRPPA NM_001101426.4(CRPPA):c.722del (p.Leu241fs) Deletion Pathogenic 522956 rs1554320168 GRCh37: 7:16348215-16348215
GRCh38: 7:16308590-16308590
16 ITGA7 NM_002206.3(ITGA7):c.1505+1G>C SNV Pathogenic 1032040 GRCh37: 12:56091234-56091234
GRCh38: 12:55697450-55697450
17 ITGA7 NM_002206.3(ITGA7):c.2749dup (p.Glu917fs) Duplication Pathogenic 1032041 GRCh37: 12:56086722-56086723
GRCh38: 12:55692938-55692939
18 ITGA7 NM_002206.3(ITGA7):c.946dup (p.Leu316fs) Duplication Pathogenic 1032042 GRCh37: 12:56092545-56092546
GRCh38: 12:55698761-55698762
19 ITGA7 NM_002206.3(ITGA7):c.2357+1G>A SNV Likely pathogenic 162572 rs200402328 GRCh37: 12:56088226-56088226
GRCh38: 12:55694442-55694442
20 ITGA7 NM_002206.3(ITGA7):c.1567+1G>A SNV Likely pathogenic 538003 rs1217190017 GRCh37: 12:56090999-56090999
GRCh38: 12:55697215-55697215
21 ITGA7 NM_002206.3(ITGA7):c.671-1G>A SNV Likely pathogenic 571500 rs777049999 GRCh37: 12:56093774-56093774
GRCh38: 12:55699990-55699990
22 ITGA7 NM_002206.3(ITGA7):c.2182del (p.Ala728fs) Deletion Likely pathogenic 587590 rs1565622052 GRCh37: 12:56088576-56088576
GRCh38: 12:55694792-55694792
23 ITGA7 NM_002206.3(ITGA7):c.3268C>T (p.Gln1090Ter) SNV Conflicting interpretations of pathogenicity 470579 rs200390529 GRCh37: 12:56078988-56078988
GRCh38: 12:55685204-55685204
24 ITGA7 NM_002206.3(ITGA7):c.1459A>G (p.Ser487Gly) SNV Uncertain significance 663871 rs934502279 GRCh37: 12:56091281-56091281
GRCh38: 12:55697497-55697497
25 ITGA7 NM_002206.3(ITGA7):c.2958+5G>C SNV Uncertain significance 664547 rs191213131 GRCh37: 12:56082623-56082623
GRCh38: 12:55688839-55688839
26 ITGA7 NM_002206.3(ITGA7):c.2393G>A (p.Arg798Gln) SNV Uncertain significance 844969 GRCh37: 12:56088079-56088079
GRCh38: 12:55694295-55694295
27 ITGA7 NM_002206.3(ITGA7):c.1091A>T (p.His364Leu) SNV Uncertain significance 846277 GRCh37: 12:56092268-56092268
GRCh38: 12:55698484-55698484
28 ITGA7 NM_002206.3(ITGA7):c.2740C>T (p.Arg914Trp) SNV Uncertain significance 242417 rs754109651 GRCh37: 12:56086732-56086732
GRCh38: 12:55692948-55692948
29 ITGA7 NM_002206.3(ITGA7):c.2612A>G (p.Asn871Ser) SNV Uncertain significance 850675 GRCh37: 12:56087025-56087025
GRCh38: 12:55693241-55693241
30 ITGA7 NM_002206.3(ITGA7):c.1567G>A (p.Ala523Thr) SNV Uncertain significance 852216 GRCh37: 12:56091000-56091000
GRCh38: 12:55697216-55697216
31 ITGA7 NM_002206.3(ITGA7):c.260G>A (p.Arg87His) SNV Uncertain significance 852588 GRCh37: 12:56096909-56096909
GRCh38: 12:55703125-55703125
32 ITGA7 NM_002206.3(ITGA7):c.3158C>G (p.Ala1053Gly) SNV Uncertain significance 863712 GRCh37: 12:56081780-56081780
GRCh38: 12:55687996-55687996
33 ITGA7 NM_002206.3(ITGA7):c.1624C>T (p.Arg542Cys) SNV Uncertain significance 470567 rs374384926 GRCh37: 12:56090796-56090796
GRCh38: 12:55697012-55697012
34 ITGA7 NM_002206.3(ITGA7):c.1888-3C>T SNV Uncertain significance 934349 GRCh37: 12:56089424-56089424
GRCh38: 12:55695640-55695640
35 ITGA7 NM_002206.3(ITGA7):c.751C>T (p.Pro251Ser) SNV Uncertain significance 939758 GRCh37: 12:56093693-56093693
GRCh38: 12:55699909-55699909
36 ITGA7 NM_002206.3(ITGA7):c.3158C>T (p.Ala1053Val) SNV Uncertain significance 960133 GRCh37: 12:56081780-56081780
GRCh38: 12:55687996-55687996
37 ITGA7 NM_002206.3(ITGA7):c.791-10C>A SNV Uncertain significance 961697 GRCh37: 12:56092711-56092711
GRCh38: 12:55698927-55698927
38 ITGA7 NM_002206.3(ITGA7):c.806C>T (p.Ser269Leu) SNV Uncertain significance 967506 GRCh37: 12:56092686-56092686
GRCh38: 12:55698902-55698902
39 ITGA7 NM_002206.3(ITGA7):c.2358-8C>G SNV Uncertain significance 998442 GRCh37: 12:56088122-56088122
GRCh38: 12:55694338-55694338
40 ITGA7 NM_002206.3(ITGA7):c.1249A>G (p.Ser417Gly) SNV Uncertain significance 998835 GRCh37: 12:56091754-56091754
GRCh38: 12:55697970-55697970
41 ITGA7 NM_002206.3(ITGA7):c.998+5G>T SNV Uncertain significance 998995 GRCh37: 12:56092489-56092489
GRCh38: 12:55698705-55698705
42 ITGA7 NM_002206.3(ITGA7):c.1360T>G (p.Tyr454Asp) SNV Uncertain significance 1001218 GRCh37: 12:56091528-56091528
GRCh38: 12:55697744-55697744
43 ITGA7 NM_002206.3(ITGA7):c.3002A>T (p.Asn1001Ile) SNV Uncertain significance 1001861 GRCh37: 12:56082041-56082041
GRCh38: 12:55688257-55688257
44 ITGA7 NM_002206.3(ITGA7):c.517C>T (p.Arg173Trp) SNV Uncertain significance 432700 rs368130279 GRCh37: 12:56094836-56094836
GRCh38: 12:55701052-55701052
45 ITGA7 NM_002206.3(ITGA7):c.2177T>A (p.Val726Asp) SNV Uncertain significance 1004525 GRCh37: 12:56088581-56088581
GRCh38: 12:55694797-55694797
46 ITGA7 NM_002206.3(ITGA7):c.1706G>A (p.Arg569Gln) SNV Uncertain significance 1004963 GRCh37: 12:56090714-56090714
GRCh38: 12:55696930-55696930
47 ITGA7 NM_002206.3(ITGA7):c.2983G>A (p.Glu995Lys) SNV Uncertain significance 1005128 GRCh37: 12:56082060-56082060
GRCh38: 12:55688276-55688276
48 ITGA7 NM_002206.3(ITGA7):c.283C>G (p.Pro95Ala) SNV Uncertain significance 1007155 GRCh37: 12:56096886-56096886
GRCh38: 12:55703102-55703102
49 ITGA7 NM_002206.3(ITGA7):c.820G>A (p.Val274Met) SNV Uncertain significance 1009028 GRCh37: 12:56092672-56092672
GRCh38: 12:55698888-55698888
50 ITGA7 NM_002206.3(ITGA7):c.455A>G (p.Gln152Arg) SNV Uncertain significance 1011143 GRCh37: 12:56094898-56094898
GRCh38: 12:55701114-55701114

Expression for Muscular Dystrophy, Congenital, Due to Integrin Alpha-7...

Search GEO for disease gene expression data for Muscular Dystrophy, Congenital, Due to Integrin Alpha-7 Deficiency.

Pathways for Muscular Dystrophy, Congenital, Due to Integrin Alpha-7...

Pathways related to Muscular Dystrophy, Congenital, Due to Integrin Alpha-7 Deficiency according to GeneCards Suite gene sharing:

(show all 36)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.71 TUBA4A RAP1B LAMC1 LAMB1 LAMA2 LAMA1
2
Show member pathways
13.38 RAP1B LAMC1 LAMB1 LAMA1 ITGA5 FURIN
3
Show member pathways
13.29 RAP1B MMP11 LAMC1 LAMB1 LAMA2 LAMA1
4
Show member pathways
12.93 RAP1B LAMC1 LAMB1 LAMA2 LAMA1 ITGA7
5
Show member pathways
12.91 LAMC1 LAMB1 LAMA1 ITGA7 ITGA5
6
Show member pathways
12.89 LAMC1 LAMB1 LAMA2 LAMA1 ITGA7 ITGA5
7
Show member pathways
12.75 RAP1B LAMC1 LAMB1 LAMA2 LAMA1 ITGA7
8 12.7 LAMC1 LAMB1 LAMA2 LAMA1
9
Show member pathways
12.7 LAMC1 LAMB1 LAMA2 LAMA1 ITGA7 ITGA5
10
Show member pathways
12.48 LAMC1 LAMB1 LAMA1 ITGA5
11
Show member pathways
12.26 RAP1B LAMC1 LAMB1 LAMA2 LAMA1 ITGA7
12 12.2 ITGA7 ITGA5 FURIN EPHA1
13
Show member pathways
12.19 LAMC1 LAMB1 LAMA2 LAMA1
14 12.15 ITGA7 ITGA5 FURIN EPHA1
15
Show member pathways
12.14 LAMA2 LAMA1 ITGA7 ITGA5 DAG1
16 12.04 LAMA2 LAMA1 ITGA7 ITGA5 DAG1
17
Show member pathways
12.02 LAMC1 LAMA1 ITGA5 DAG1
18
Show member pathways
11.98 MMP15 MMP11 LAMC1 LAMB1 LAMA2 LAMA1
19
Show member pathways
11.96 LAMC1 LAMB1 LAMA1 ITGA5
20 11.91 RAP1B LAMC1 ITGA5
21
Show member pathways
11.89 LAMC1 LAMB1 LAMA2 LAMA1 ITGA7 ITGA5
22 11.85 LAMC1 LAMB1 LAMA2 LAMA1
23
Show member pathways
11.8 MMP15 MMP11 FURIN
24 11.78 LAMC1 LAMB1 LAMA2 LAMA1
25 11.63 RAP1B ITGA7 ITGA5 EPHA1
26 11.5 MMP15 LAMC1 LAMB1 LAMA1 ITGA5
27 11.47 LAMC1 LAMB1 LAMA1
28 11.39 ITGA7 ITGA5 EPHA1
29 11.36 LAMC1 LAMB1 LAMA1
30 11.27 LAMC1 LAMB1 LAMA1 ITGA5
31 11.19 LAMC1 LAMB1 LAMA2 LAMA1 ITGA7 DAG1
32 11.18 LAMA1 ITGA5
33 11.18 LAMC1 LAMB1
34 11.15 LAMA1 ITGA5
35 10.93 LAMA2 DAG1
36 10.85 LAMC1 LAMB1 LAMA2 LAMA1 ITGA7 ITGA5

GO Terms for Muscular Dystrophy, Congenital, Due to Integrin Alpha-7...

Cellular components related to Muscular Dystrophy, Congenital, Due to Integrin Alpha-7 Deficiency according to GeneCards Suite gene sharing:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 extracellular exosome GO:0070062 10.04 TUBA4A SERPINA1 RAP1B LAMC1 LAMB1 FURIN
2 extracellular region GO:0005576 9.97 TUBA4A SERPINA1 MMP11 LAMC1 LAMB1 LAMA2
3 endoplasmic reticulum lumen GO:0005788 9.76 SERPINA1 LAMC1 LAMB1 DAG1
4 extracellular matrix GO:0031012 9.73 MMP15 MMP11 LAMC1 LAMA1
5 cell-cell junction GO:0005911 9.67 RAP1B LAMA1 ITGA5 DAG1
6 Golgi lumen GO:0005796 9.65 MMP11 FURIN DAG1
7 collagen-containing extracellular matrix GO:0062023 9.63 SERPINA1 LAMC1 LAMB1 LAMA2 LAMA1 DAG1
8 integrin complex GO:0008305 9.51 ITGA7 ITGA5
9 laminin complex GO:0043256 9.4 LAMB1 LAMA1
10 basement membrane GO:0005604 9.35 LAMC1 LAMB1 LAMA2 LAMA1 DAG1
11 laminin-10 complex GO:0043259 9.26 LAMC1 LAMB1
12 laminin-1 complex GO:0005606 8.8 LAMC1 LAMB1 LAMA1

Biological processes related to Muscular Dystrophy, Congenital, Due to Integrin Alpha-7 Deficiency according to GeneCards Suite gene sharing:

(show all 19)
# Name GO ID Score Top Affiliating Genes
1 cell adhesion GO:0007155 9.8 LAMC1 LAMB1 LAMA2 LAMA1 ITGA7 ITGA5
2 cellular protein metabolic process GO:0044267 9.78 SERPINA1 LAMC1 LAMB1 FURIN
3 axon guidance GO:0007411 9.77 LAMA2 LAMA1 EPHA1 DAG1 CRPPA
4 animal organ morphogenesis GO:0009887 9.73 LAMC1 LAMB1 LAMA2 LAMA1
5 substrate adhesion-dependent cell spreading GO:0034446 9.63 LAMC1 LAMB1 EPHA1
6 extracellular matrix disassembly GO:0022617 9.62 MMP15 MMP11 LAMC1 FURIN
7 maintenance of permeability of blood-brain barrier GO:0035633 9.58 LAMC1 LAMA2
8 heterotypic cell-cell adhesion GO:0034113 9.58 ITGA7 ITGA5
9 collagen catabolic process GO:0030574 9.58 MMP15 MMP11 FURIN
10 positive regulation of cell-matrix adhesion GO:0001954 9.57 EPHA1 DAG1
11 regulation of embryonic development GO:0045995 9.56 LAMA2 LAMA1
12 epithelial tube branching involved in lung morphogenesis GO:0060441 9.55 LAMA1 DAG1
13 basement membrane organization GO:0071711 9.54 MMP11 DAG1
14 branching involved in salivary gland morphogenesis GO:0060445 9.52 LAMA1 DAG1
15 morphogenesis of an epithelial sheet GO:0002011 9.51 LAMA1 DAG1
16 Schwann cell differentiation GO:0014037 9.49 LAMA2 DAG1
17 tissue development GO:0009888 9.46 LAMC1 LAMB1 LAMA2 LAMA1
18 extracellular matrix organization GO:0030198 9.32 MMP15 MMP11 LAMC1 LAMB1 LAMA2 LAMA1
19 endodermal cell differentiation GO:0035987 9.26 MMP15 LAMB1 ITGA7 ITGA5

Molecular functions related to Muscular Dystrophy, Congenital, Due to Integrin Alpha-7 Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix structural constituent GO:0005201 8.92 LAMC1 LAMB1 LAMA2 LAMA1

Sources for Muscular Dystrophy, Congenital, Due to Integrin Alpha-7...

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
Content
Loading form....