LGMDR18
MCID: MSC184
MIFTS: 34

Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 (LGMDR18)

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

Aliases & Classifications for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18

MalaCards integrated aliases for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18:

Name: Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 57 72 6
Lgmd2s 57 58 72
Muscular Dystrophy, Limb-Girdle, Type 2s 57 72
Lgmdr18 57 72
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2s 58
Trappc11-Related Limb-Girdle Muscular Dystrophy R18 58
Muscular Dystrophy, Limb-Girdle, Type 2s; Lgmd2s 57
Limb-Girdle Muscular Dystrophy Type 2s 58
Limb-Girdle Muscular Dystrophy 2s 72
Trappc11-Related Lgmd R18 58
Lgmd Type 2s 58

Characteristics:

Orphanet epidemiological data:

58
trappc11-related limb-girdle muscular dystrophy r18
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

Miscellaneous:
highly variable phenotype
onset in infancy or early childhood


HPO:

31
muscular dystrophy, limb-girdle, autosomal recessive 18:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases


Summaries for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18

OMIM® : 57 Autosomal recessive limb-girdle muscular dystrophy-18 is characterized by childhood-onset of proximal muscle weakness resulting in gait abnormalities and scapular winging. Serum creatine kinase is increased. A subset of patients may show a hyperkinetic movement disorder with chorea, ataxia, or dystonia and global developmental delay (summary by Bogershausen et al., 2013). Additional more variable features include alacrima, achalasia, cataracts, or hepatic steatosis (Liang et al., 2015; Koehler et al., 2017). For discussion of genetic heterogeneity of autosomal recessive limb-girdle muscular dystrophy, see LGMDR1 (253600). (615356) (Updated 20-May-2021)

MalaCards based summary : Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18, also known as lgmd2s, is related to muscular dystrophy, limb-girdle, autosomal recessive 1 and muscular dystrophy, limb-girdle, autosomal recessive 2. An important gene associated with Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 is TRAPPC11 (Trafficking Protein Particle Complex Subunit 11). Affiliated tissues include liver and skeletal muscle, and related phenotypes are hepatomegaly and hepatic steatosis

UniProtKB/Swiss-Prot : 72 Muscular dystrophy, limb-girdle, autosomal recessive 18: A form of limb-girdle muscular dystrophy characterized by proximal muscle weakness with childhood onset, resulting in gait abnormalities and scapular winging. Serum creatine kinase is increased. A subset of patients may show a hyperkinetic movement disorder with chorea, ataxia, or dystonia and global developmental delay.

Related Diseases for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18

Diseases in the Limb-Girdle Muscular Dystrophy family:

Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 6 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3 Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10 Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12 Muscular Dystrophy, Limb-Girdle, Type 1h
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 21
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2z
Autosomal Dominant Limb-Girdle Muscular Dystrophy Autosomal Recessive Limb-Girdle Muscular Dystrophy
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2a Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2c Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2d
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2f Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2g
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2h Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2j
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2l Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2q
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2w Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2x
Limb-Girdle Muscular Dystrophy Type 1a Limb-Girdle Muscular Dystrophy Type 1b
Limb-Girdle Muscular Dystrophy Type 1c Pomgnt2-Related Limb-Girdle Muscular Dystrophy R24

Diseases related to Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 muscular dystrophy, limb-girdle, autosomal recessive 1 11.7
2 muscular dystrophy, limb-girdle, autosomal recessive 2 11.7
3 cataract 10.3
4 muscular dystrophy 10.3
5 limb-girdle muscular dystrophy 10.3

Graphical network of the top 20 diseases related to Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18:



Diseases related to Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18

Symptoms & Phenotypes for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18

Human phenotypes related to Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18:

58 31 (show top 50) (show all 56)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hepatomegaly 58 31 occasional (7.5%) Frequent (79-30%) HP:0002240
2 hepatic steatosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001397
3 elevated hepatic transaminase 58 31 occasional (7.5%) Frequent (79-30%) HP:0002910
4 achalasia 31 occasional (7.5%) HP:0002571
5 cerebellar atrophy 31 occasional (7.5%) HP:0001272
6 alacrima 31 occasional (7.5%) HP:0000522
7 cns hypomyelination 31 occasional (7.5%) HP:0003429
8 seizure 31 occasional (7.5%) HP:0001250
9 eeg abnormality 31 very rare (1%) HP:0002353
10 cerebral atrophy 31 very rare (1%) HP:0002059
11 esophagitis 31 very rare (1%) HP:0100633
12 chorea 58 31 Occasional (29-5%) HP:0002072
13 hyperlordosis 58 31 Frequent (79-30%) HP:0003307
14 cataract 58 31 Frequent (79-30%) HP:0000518
15 microcephaly 58 31 Occasional (29-5%) HP:0000252
16 limb-girdle muscular dystrophy 58 31 Frequent (79-30%) HP:0006785
17 waddling gait 58 31 Frequent (79-30%) HP:0002515
18 myalgia 58 31 Frequent (79-30%) HP:0003326
19 difficulty walking 58 31 Frequent (79-30%) HP:0002355
20 muscle spasm 58 31 Frequent (79-30%) HP:0003394
21 intellectual disability 31 HP:0001249
22 scoliosis 31 HP:0002650
23 ataxia 31 HP:0001251
24 dysarthria 31 HP:0001260
25 tremor 31 HP:0001337
26 global developmental delay 31 HP:0001263
27 hip dysplasia 31 HP:0001385
28 short stature 31 HP:0004322
29 myopathy 58 Frequent (79-30%)
30 strabismus 31 HP:0000486
31 absent speech 58 Frequent (79-30%)
32 intrauterine growth retardation 31 HP:0001511
33 myopia 31 HP:0000545
34 elevated serum creatine kinase 31 HP:0003236
35 abnormal levels of creatine kinase in blood 58 Frequent (79-30%)
36 dystonia 31 HP:0001332
37 hyporeflexia 58 Frequent (79-30%)
38 intellectual disability, borderline 58 Frequent (79-30%)
39 feeding difficulties 31 HP:0011968
40 muscular dystrophy 58 Frequent (79-30%)
41 generalized tonic-clonic seizures 58 Occasional (29-5%)
42 athetosis 31 HP:0002305
43 generalized hypotonia 31 HP:0001290
44 restrictive ventilatory defect 58 Excluded (0%)
45 proximal muscle weakness 58 Frequent (79-30%)
46 speech apraxia 31 HP:0011098
47 inability to walk 31 HP:0002540
48 poor speech 31 HP:0002465
49 muscle fiber atrophy 58 Frequent (79-30%)
50 infantile muscular hypotonia 58 Occasional (29-5%)

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Central Nervous System:
intellectual disability
ataxia
dysarthria
tremor
waddling gait
more
Skeletal Pelvis:
hip dysplasia

Head And Neck Eyes:
strabismus
myopia
cataracts
alacrima (in some patients)

Muscle Soft Tissue:
proximal muscle weakness
gowers sign
hypotonia
muscle cramps
muscle pain
more
Laboratory Abnormalities:
increased serum creatine kinase
abnormal liver enzymes (in some patients)

Abdomen Liver:
hepatomegaly (rare)
hepatic steatosis (rare)
liver fibrosis (rare)

Skeletal Spine:
scoliosis
lordosis

Growth Height:
short stature

Growth Other:
intrauterine growth retardation
poor overall growth

Abdomen Gastrointestinal:
poor feeding
achalasia (in some patients)
esophagitis (in some patients)

Head And Neck Head:
microcephaly (in some patients)

Clinical features from OMIM®:

615356 (Updated 20-May-2021)

Drugs & Therapeutics for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18

Search Clinical Trials , NIH Clinical Center for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18

Genetic Tests for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18

Anatomical Context for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18

MalaCards organs/tissues related to Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18:

40
Liver, Skeletal Muscle

Publications for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18

Articles related to Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18:

# Title Authors PMID Year
1
A novel TRAPPC11 mutation in two Turkish families associated with cerebral atrophy, global retardation, scoliosis, achalasia and alacrima. 6 57
27707803 2017
2
trappc11 is required for protein glycosylation in zebrafish and humans. 6 57
26912795 2016
3
Congenital muscular dystrophy with fatty liver and infantile-onset cataract caused by TRAPPC11 mutations: broadening of the phenotype. 6 57
26322222 2015
4
Recessive TRAPPC11 mutations cause a disease spectrum of limb girdle muscular dystrophy and myopathy with movement disorder and intellectual disability. 57 6
23830518 2013
5
Siblings With Mutations in TRAPPC11 Presenting With Limb-Girdle Muscular Dystrophy 2S. 61 57
28827486 2017
6
229th ENMC international workshop: Limb girdle muscular dystrophies - Nomenclature and reformed classification Naarden, the Netherlands, 17-19 March 2017. 57
30055862 2018
7
Exome Pool-Seq in neurodevelopmental disorders. 6
29158550 2017
8
Genetic basis of limb-girdle muscular dystrophies: the 2014 update. 61
24843229 2014
9
Calpain-3 mutations in Turkey. 61
16411092 2006

Variations for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18

ClinVar genetic disease variations for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18:

6 (show top 50) (show all 242)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TRAPPC11 NM_021942.6(TRAPPC11):c.2938G>A (p.Gly980Arg) SNV Pathogenic 60510 rs397509417 GRCh37: 4:184622936-184622936
GRCh38: 4:183701783-183701783
2 TRAPPC11 NM_021942.6(TRAPPC11):c.661-1G>T SNV Pathogenic 268054 rs886041052 GRCh37: 4:184596316-184596316
GRCh38: 4:183675163-183675163
3 TRAPPC11 NM_021942.6(TRAPPC11):c.1893+3A>G SNV Pathogenic 268055 rs886041053 GRCh37: 4:184607904-184607904
GRCh38: 4:183686751-183686751
4 TRAPPC11 NM_021942.6(TRAPPC11):c.142C>T (p.Arg48Ter) SNV Pathogenic 375391 rs150331292 GRCh37: 4:184585162-184585162
GRCh38: 4:183664009-183664009
5 TRAPPC11 NM_021942.6(TRAPPC11):c.2168dup (p.Lys724fs) Duplication Pathogenic 450724 rs1554009901 GRCh37: 4:184614228-184614229
GRCh38: 4:183693075-183693076
6 TRAPPC11 NC_000004.12:g.(?_183663858)_(183712654_?)del Deletion Pathogenic 832412 GRCh37: 4:184585011-184633807
GRCh38:
7 TRAPPC11 NM_021942.6(TRAPPC11):c.518_521del (p.Phe173fs) Microsatellite Pathogenic 1033986 GRCh37: 4:184589223-184589226
GRCh38: 4:183668070-183668073
8 TRAPPC11 NM_021942.6(TRAPPC11):c.1192C>T (p.Arg398Ter) SNV Pathogenic 474342 rs140403642 GRCh37: 4:184603963-184603963
GRCh38: 4:183682810-183682810
9 TRAPPC11 NM_021942.6(TRAPPC11):c.1568-1G>T SNV Pathogenic 1033577 GRCh37: 4:184606236-184606236
GRCh38: 4:183685083-183685083
10 TRAPPC11 NM_021942.6(TRAPPC11):c.2625del (p.His875fs) Deletion Pathogenic 1033578 GRCh37: 4:184615873-184615873
GRCh38: 4:183694720-183694720
11 TRAPPC11 NM_021942.6(TRAPPC11):c.1287+5G>A SNV Pathogenic/Likely pathogenic 60511 rs397509418 GRCh37: 4:184605212-184605212
GRCh38: 4:183684059-183684059
12 TRAPPC11 NM_021942.6(TRAPPC11):c.204+1G>C SNV Likely pathogenic 951613 GRCh37: 4:184585225-184585225
GRCh38: 4:183664072-183664072
13 TRAPPC11 NM_021942.6(TRAPPC11):c.1207+1G>C SNV Likely pathogenic 959757 GRCh37: 4:184603979-184603979
GRCh38: 4:183682826-183682826
14 TRAPPC11 NM_021942.6(TRAPPC11):c.464C>T (p.Ser155Leu) SNV Likely pathogenic 800913 rs868721699 GRCh37: 4:184589174-184589174
GRCh38: 4:183668021-183668021
15 TRAPPC11 NM_021942.6(TRAPPC11):c.2694+1G>T SNV Likely pathogenic 474354 rs1186858080 GRCh37: 4:184618722-184618722
GRCh38: 4:183697569-183697569
16 TRAPPC11 NM_021942.6(TRAPPC11):c.1568-1G>A SNV Likely pathogenic 617583 rs1180079162 GRCh37: 4:184606236-184606236
GRCh38: 4:183685083-183685083
17 TRAPPC11 NM_021942.6(TRAPPC11):c.3400T>C (p.Ter1134Arg) SNV Conflicting interpretations of pathogenicity 577012 rs142222368 GRCh37: 4:184633795-184633795
GRCh38: 4:183712642-183712642
18 TRAPPC11 NM_021942.6(TRAPPC11):c.2147C>G (p.Ala716Gly) SNV Conflicting interpretations of pathogenicity 448695 rs143990563 GRCh37: 4:184614210-184614210
GRCh38: 4:183693057-183693057
19 TRAPPC11 NM_021942.6(TRAPPC11):c.1133A>G (p.Asn378Ser) SNV Uncertain significance 474341 rs780991425 GRCh37: 4:184603904-184603904
GRCh38: 4:183682751-183682751
20 TRAPPC11 NM_021942.6(TRAPPC11):c.1901A>G (p.Asn634Ser) SNV Uncertain significance 448694 rs148567547 GRCh37: 4:184612476-184612476
GRCh38: 4:183691323-183691323
21 TRAPPC11 NM_021942.6(TRAPPC11):c.829A>G (p.Lys277Glu) SNV Uncertain significance 835885 GRCh37: 4:184598705-184598705
GRCh38: 4:183677552-183677552
22 TRAPPC11 NM_021942.6(TRAPPC11):c.3104A>G (p.His1035Arg) SNV Uncertain significance 846381 GRCh37: 4:184628008-184628008
GRCh38: 4:183706855-183706855
23 TRAPPC11 NM_021942.6(TRAPPC11):c.75G>A (p.Leu25=) SNV Uncertain significance 848047 GRCh37: 4:184585095-184585095
GRCh38: 4:183663942-183663942
24 TRAPPC11 NM_021942.6(TRAPPC11):c.512C>A (p.Ser171Tyr) SNV Uncertain significance 851367 GRCh37: 4:184589222-184589222
GRCh38: 4:183668069-183668069
25 TRAPPC11 NM_021942.6(TRAPPC11):c.1170C>G (p.Asp390Glu) SNV Uncertain significance 852225 GRCh37: 4:184603941-184603941
GRCh38: 4:183682788-183682788
26 TRAPPC11 NM_021942.6(TRAPPC11):c.1422-10C>A SNV Uncertain significance 857924 GRCh37: 4:184605839-184605839
GRCh38: 4:183684686-183684686
27 TRAPPC11 NM_021942.6(TRAPPC11):c.2489A>G (p.Asp830Gly) SNV Uncertain significance 858001 GRCh37: 4:184615172-184615172
GRCh38: 4:183694019-183694019
28 TRAPPC11 NM_021942.6(TRAPPC11):c.1837G>C (p.Ala613Pro) SNV Uncertain significance 935063 GRCh37: 4:184607845-184607845
GRCh38: 4:183686692-183686692
29 TRAPPC11 NM_021942.6(TRAPPC11):c.2530C>T (p.Arg844Cys) SNV Uncertain significance 437020 rs149626892 GRCh37: 4:184615778-184615778
GRCh38: 4:183694625-183694625
30 TRAPPC11 NM_021942.6(TRAPPC11):c.2756G>A (p.Ser919Asn) SNV Uncertain significance 942023 GRCh37: 4:184618893-184618893
GRCh38: 4:183697740-183697740
31 TRAPPC11 NM_021942.6(TRAPPC11):c.284C>T (p.Ala95Val) SNV Uncertain significance 943883 GRCh37: 4:184587489-184587489
GRCh38: 4:183666336-183666336
32 TRAPPC11 NM_021942.6(TRAPPC11):c.446-6C>T SNV Uncertain significance 949874 GRCh37: 4:184589150-184589150
GRCh38: 4:183667997-183667997
33 TRAPPC11 NM_021942.6(TRAPPC11):c.2637T>G (p.Thr879=) SNV Uncertain significance 950931 GRCh37: 4:184618664-184618664
GRCh38: 4:183697511-183697511
34 TRAPPC11 NM_021942.6(TRAPPC11):c.2312G>A (p.Cys771Tyr) SNV Uncertain significance 951681 GRCh37: 4:184614816-184614816
GRCh38: 4:183693663-183693663
35 TRAPPC11 NM_021942.6(TRAPPC11):c.1981C>G (p.Pro661Ala) SNV Uncertain significance 961942 GRCh37: 4:184612556-184612556
GRCh38: 4:183691403-183691403
36 TRAPPC11 NM_021942.6(TRAPPC11):c.3185A>G (p.Lys1062Arg) SNV Uncertain significance 964831 GRCh37: 4:184628089-184628089
GRCh38: 4:183706936-183706936
37 TRAPPC11 NM_021942.6(TRAPPC11):c.1337A>G (p.Tyr446Cys) SNV Uncertain significance 970623 GRCh37: 4:184605347-184605347
GRCh38: 4:183684194-183684194
38 TRAPPC11 NM_021942.6(TRAPPC11):c.190A>G (p.Lys64Glu) SNV Uncertain significance 1034690 GRCh37: 4:184585210-184585210
GRCh38: 4:183664057-183664057
39 TRAPPC11 NM_021942.6(TRAPPC11):c.855C>A (p.His285Gln) SNV Uncertain significance 1036393 GRCh37: 4:184600529-184600529
GRCh38: 4:183679376-183679376
40 TRAPPC11 NM_021942.6(TRAPPC11):c.487A>G (p.Asn163Asp) SNV Uncertain significance 1036791 GRCh37: 4:184589197-184589197
GRCh38: 4:183668044-183668044
41 TRAPPC11 NM_021942.6(TRAPPC11):c.2429A>G (p.His810Arg) SNV Uncertain significance 1038419 GRCh37: 4:184615112-184615112
GRCh38: 4:183693959-183693959
42 TRAPPC11 NM_021942.6(TRAPPC11):c.2252T>G (p.Val751Gly) SNV Uncertain significance 1039457 GRCh37: 4:184614756-184614756
GRCh38: 4:183693603-183693603
43 TRAPPC11 NM_021942.6(TRAPPC11):c.1923A>C (p.Glu641Asp) SNV Uncertain significance 1040146 GRCh37: 4:184612498-184612498
GRCh38: 4:183691345-183691345
44 TRAPPC11 NM_021942.6(TRAPPC11):c.748G>A (p.Ala250Thr) SNV Uncertain significance 1040381 GRCh37: 4:184598624-184598624
GRCh38: 4:183677471-183677471
45 TRAPPC11 NM_021942.6(TRAPPC11):c.2238-4A>G SNV Uncertain significance 1041145 GRCh37: 4:184614738-184614738
GRCh38: 4:183693585-183693585
46 TRAPPC11 NM_021942.6(TRAPPC11):c.1615A>G (p.Ile539Val) SNV Uncertain significance 1041172 GRCh37: 4:184606284-184606284
GRCh38: 4:183685131-183685131
47 TRAPPC11 NM_021942.6(TRAPPC11):c.701G>A (p.Ser234Asn) SNV Uncertain significance 1041241 GRCh37: 4:184596357-184596357
GRCh38: 4:183675204-183675204
48 TRAPPC11 NM_021942.6(TRAPPC11):c.43C>T (p.Arg15Trp) SNV Uncertain significance 1041754 GRCh37: 4:184585063-184585063
GRCh38: 4:183663910-183663910
49 TRAPPC11 NM_021942.6(TRAPPC11):c.2145A>C (p.Glu715Asp) SNV Uncertain significance 1043662 GRCh37: 4:184614208-184614208
GRCh38: 4:183693055-183693055
50 TRAPPC11 NM_021942.6(TRAPPC11):c.3189+4C>T SNV Uncertain significance 1045039 GRCh37: 4:184628097-184628097
GRCh38: 4:183706944-183706944

UniProtKB/Swiss-Prot genetic disease variations for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18:

72
# Symbol AA change Variation ID SNP ID
1 TRAPPC11 p.Gly980Arg VAR_070158 rs397509417

Expression for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18

Search GEO for disease gene expression data for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18.

Pathways for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18

GO Terms for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18

Sources for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18

3 CDC
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9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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28 GO
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30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
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35 IUPHAR
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44 MeSH
45 MESH via Orphanet
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50 NCIt
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56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
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69 Tocris
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71 UMLS via Orphanet
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