LGMDR18
MCID: MSC184
MIFTS: 34

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

Categories: Genetic diseases, Metabolic diseases, Muscle diseases, Neuronal diseases, Rare 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 56 73
Lgmd2s 56 58 73
Muscular Dystrophy, Limb-Girdle, Type 2s 56 73
Lgmdr18 56 73
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2s 58
Muscular Dystrophy, Limb-Girdle, Type 2s; Lgmd2s 56
Limb-Girdle Muscular Dystrophy 2s 73

Characteristics:

Orphanet epidemiological data:

58
autosomal recessive limb-girdle muscular dystrophy type 2s
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

56
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 : 56 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)

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 11). Affiliated tissues include liver and skeletal muscle, and related phenotypes are hepatomegaly and hepatic steatosis

UniProtKB/Swiss-Prot : 73 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
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:

(show all 14)
# Related Disease Score Top Affiliating Genes
1 muscular dystrophy, limb-girdle, autosomal recessive 1 11.9
2 muscular dystrophy, limb-girdle, autosomal recessive 2 11.9
3 limb-girdle muscular dystrophy 11.6
4 muscular dystrophy 10.4
5 cataract 10.4
6 autosomal recessive limb-girdle muscular dystrophy 10.3
7 ablepharon-macrostomia syndrome 10.1
8 muscular dystrophy, duchenne type 10.1
9 muscular dystrophy, limb-girdle, autosomal recessive 6 10.1
10 muscular dystrophy-dystroglycanopathy , type c, 5 10.1
11 muscular dystrophy-dystroglycanopathy , type c, 1 10.1
12 muscular dystrophy-dystroglycanopathy , type b, 1 10.1
13 muscular dystrophy, congenital, lmna-related 10.1
14 walker-warburg syndrome 10.1

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 57)
# 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 seizures 31 occasional (7.5%) HP:0001250
5 achalasia 31 occasional (7.5%) HP:0002571
6 cerebellar atrophy 31 occasional (7.5%) HP:0001272
7 alacrima 31 occasional (7.5%) HP:0000522
8 cns hypomyelination 31 occasional (7.5%) HP:0003429
9 eeg abnormality 31 very rare (1%) HP:0002353
10 esophagitis 31 very rare (1%) HP:0100633
11 cerebral atrophy 31 very rare (1%) HP:0002059
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 myalgia 58 31 Frequent (79-30%) HP:0003326
17 limb-girdle muscular dystrophy 58 31 Frequent (79-30%) HP:0006785
18 waddling gait 58 31 Frequent (79-30%) HP:0002515
19 difficulty walking 58 31 Frequent (79-30%) HP:0002355
20 intellectual disability 31 HP:0001249
21 ataxia 31 HP:0001251
22 dysarthria 31 HP:0001260
23 tremor 31 HP:0001337
24 scoliosis 31 HP:0002650
25 global developmental delay 31 HP:0001263
26 hip dysplasia 31 HP:0001385
27 short stature 31 HP:0004322
28 feeding difficulties 31 HP:0011968
29 intrauterine growth retardation 31 HP:0001511
30 myopathy 58 Frequent (79-30%)
31 generalized hypotonia 31 HP:0001290
32 strabismus 31 HP:0000486
33 absent speech 58 Frequent (79-30%)
34 restrictive ventilatory defect 58 Excluded (0%)
35 myopia 31 HP:0000545
36 dystonia 31 HP:0001332
37 inability to walk 31 HP:0002540
38 generalized tonic-clonic seizures 58 Occasional (29-5%)
39 abnormal levels of creatine kinase in blood 58 Frequent (79-30%)
40 poor speech 31 HP:0002465
41 infantile muscular hypotonia 58 Occasional (29-5%)
42 muscle cramps 58 Frequent (79-30%)
43 hyporeflexia 58 Frequent (79-30%)
44 truncal ataxia 58 Occasional (29-5%)
45 speech apraxia 31 HP:0011098
46 proximal muscle weakness 58 Frequent (79-30%)
47 muscular dystrophy 58 Frequent (79-30%)
48 muscle fiber atrophy 58 Frequent (79-30%)
49 intellectual disability, borderline 58 Frequent (79-30%)
50 gowers sign 31 HP:0003391

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
intellectual disability
ataxia
dysarthria
tremor
dystonia
more
Skeletal Pelvis:
hip dysplasia

Growth Other:
intrauterine growth retardation
poor overall growth

Muscle Soft Tissue:
muscle cramps
proximal muscle weakness
gowers sign
muscle pain
hypotonia
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

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

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

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. 56 6
27707803 2017
2
trappc11 is required for protein glycosylation in zebrafish and humans. 6 56
26912795 2016
3
Congenital muscular dystrophy with fatty liver and infantile-onset cataract caused by TRAPPC11 mutations: broadening of the phenotype. 56 6
26322222 2015
4
Recessive TRAPPC11 mutations cause a disease spectrum of limb girdle muscular dystrophy and myopathy with movement disorder and intellectual disability. 56 6
23830518 2013
5
Siblings With Mutations in TRAPPC11 Presenting With Limb-Girdle Muscular Dystrophy 2S. 56 61
28827486 2017
6
229th ENMC international workshop: Limb girdle muscular dystrophies - Nomenclature and reformed classification Naarden, the Netherlands, 17-19 March 2017. 56
30055862 2018
7
Genetic basis of limb-girdle muscular dystrophies: the 2014 update. 61
24843229 2014
8
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 110) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TRAPPC11 NM_021942.6(TRAPPC11):c.2938G>A (p.Gly980Arg)SNV Pathogenic 60510 rs397509417 4:184622936-184622936 4:183701783-183701783
2 TRAPPC11 NM_021942.6(TRAPPC11):c.661-1G>TSNV Pathogenic 268054 rs886041052 4:184596316-184596316 4:183675163-183675163
3 TRAPPC11 NM_021942.6(TRAPPC11):c.1893+3A>GSNV Pathogenic 268055 rs886041053 4:184607904-184607904 4:183686751-183686751
4 TRAPPC11 NM_021942.6(TRAPPC11):c.142C>T (p.Arg48Ter)SNV Pathogenic 375391 rs150331292 4:184585162-184585162 4:183664009-183664009
5 TRAPPC11 NM_021942.6(TRAPPC11):c.1287+5G>ASNV Pathogenic/Likely pathogenic 60511 rs397509418 4:184605212-184605212 4:183684059-183684059
6 TRAPPC11 NM_021942.6(TRAPPC11):c.1192C>T (p.Arg398Ter)SNV Pathogenic/Likely pathogenic 474342 rs140403642 4:184603963-184603963 4:183682810-183682810
7 TRAPPC11 NM_021942.6(TRAPPC11):c.2694+1G>TSNV Likely pathogenic 474354 rs1186858080 4:184618722-184618722 4:183697569-183697569
8 TRAPPC11 NM_021942.6(TRAPPC11):c.1568-1G>ASNV Likely pathogenic 617583 rs1180079162 4:184606236-184606236 4:183685083-183685083
9 TRAPPC11 NM_021942.6(TRAPPC11):c.2147C>G (p.Ala716Gly)SNV Conflicting interpretations of pathogenicity 448695 rs143990563 4:184614210-184614210 4:183693057-183693057
10 TRAPPC11 NM_021942.6(TRAPPC11):c.3092C>G (p.Pro1031Arg)SNV Conflicting interpretations of pathogenicity 448698 rs200466260 4:184627996-184627996 4:183706843-183706843
11 TRAPPC11 NM_021942.6(TRAPPC11):c.931C>G (p.Leu311Val)SNV Conflicting interpretations of pathogenicity 448702 rs148833310 4:184600605-184600605 4:183679452-183679452
12 TRAPPC11 NM_021942.6(TRAPPC11):c.1894-10C>TSNV Conflicting interpretations of pathogenicity 448693 rs111381550 4:184612459-184612459 4:183691306-183691306
13 TRAPPC11 NM_021942.6(TRAPPC11):c.1901A>G (p.Asn634Ser)SNV Uncertain significance 448694 rs148567547 4:184612476-184612476 4:183691323-183691323
14 TRAPPC11 NM_021942.6(TRAPPC11):c.3194G>A (p.Arg1065Gln)SNV Uncertain significance 448699 rs567387885 4:184629564-184629564 4:183708411-183708411
15 TRAPPC11 NM_021942.6(TRAPPC11):c.1133A>G (p.Asn378Ser)SNV Uncertain significance 474341 rs780991425 4:184603904-184603904 4:183682751-183682751
16 TRAPPC11 NM_021942.6(TRAPPC11):c.2851+5G>ASNV Uncertain significance 474359 rs373713956 4:184618993-184618993 4:183697840-183697840
17 TRAPPC11 NM_021942.6(TRAPPC11):c.3211G>A (p.Gly1071Ser)SNV Uncertain significance 474363 rs141588557 4:184629581-184629581 4:183708428-183708428
18 TRAPPC11 NM_021942.6(TRAPPC11):c.832-3C>ASNV Uncertain significance 474368 rs368922437 4:184600503-184600503 4:183679350-183679350
19 TRAPPC11 NM_021942.6(TRAPPC11):c.974C>A (p.Ala325Asp)SNV Uncertain significance 474370 rs775652273 4:184601281-184601281 4:183680128-183680128
20 TRAPPC11 NM_021942.6(TRAPPC11):c.2282A>T (p.Glu761Val)SNV Uncertain significance 474347 rs1554009994 4:184614786-184614786 4:183693633-183693633
21 TRAPPC11 NM_021942.6(TRAPPC11):c.2696T>C (p.Phe899Ser)SNV Uncertain significance 474356 rs777270916 4:184618833-184618833 4:183697680-183697680
22 TRAPPC11 NM_021942.6(TRAPPC11):c.965+5G>TSNV Uncertain significance 474369 rs758780741 4:184600644-184600644 4:183679491-183679491
23 TRAPPC11 NM_021942.6(TRAPPC11):c.2419G>A (p.Val807Met)SNV Uncertain significance 474349 rs139113789 4:184615102-184615102 4:183693949-183693949
24 TRAPPC11 NM_021942.6(TRAPPC11):c.2684T>C (p.Val895Ala)SNV Uncertain significance 474353 rs200931036 4:184618711-184618711 4:183697558-183697558
25 TRAPPC11 NM_021942.6(TRAPPC11):c.2744C>G (p.Thr915Arg)SNV Uncertain significance 474358 rs200936990 4:184618881-184618881 4:183697728-183697728
26 TRAPPC11 NM_021942.6(TRAPPC11):c.2942A>G (p.His981Arg)SNV Uncertain significance 474360 rs1554011266 4:184622940-184622940 4:183701787-183701787
27 TRAPPC11 NM_021942.6(TRAPPC11):c.3029A>T (p.Glu1010Val)SNV Uncertain significance 474361 rs773678506 4:184626197-184626197 4:183705044-183705044
28 TRAPPC11 NM_021942.6(TRAPPC11):c.3055+5C>TSNV Uncertain significance 474362 rs763743260 4:184626228-184626228 4:183705075-183705075
29 TRAPPC11 NM_021942.6(TRAPPC11):c.1220C>A (p.Ser407Tyr)SNV Uncertain significance 474344 rs375379302 4:184605140-184605140 4:183683987-183683987
30 TRAPPC11 NM_021942.6(TRAPPC11):c.2307G>T (p.Met769Ile)SNV Uncertain significance 474348 rs1554010022 4:184614811-184614811 4:183693658-183693658
31 TRAPPC11 NM_021942.6(TRAPPC11):c.3215C>T (p.Thr1072Met)SNV Uncertain significance 474364 rs147061560 4:184629585-184629585 4:183708432-183708432
32 TRAPPC11 NM_021942.6(TRAPPC11):c.1735A>G (p.Ile579Val)SNV Uncertain significance 474346 rs368529822 4:184606529-184606529 4:183685376-183685376
33 TRAPPC11 NM_021942.6(TRAPPC11):c.2513A>G (p.Glu838Gly)SNV Uncertain significance 474350 rs1554010221 4:184615761-184615761 4:183694608-183694608
34 TRAPPC11 NM_021942.6(TRAPPC11):c.2628+10deldeletion Uncertain significance 474351 rs150593522 4:184615886-184615886 4:183694733-183694733
35 TRAPPC11 NM_021942.6(TRAPPC11):c.902T>G (p.Leu301Trp)SNV Uncertain significance 523061 rs1554007926 4:184600576-184600576 4:183679423-183679423
36 TRAPPC11 NM_021942.6(TRAPPC11):c.899A>T (p.Asp300Val)SNV Uncertain significance 541350 rs768253464 4:184600573-184600573 4:183679420-183679420
37 TRAPPC11 NM_021942.6(TRAPPC11):c.1543T>C (p.Tyr515His)SNV Uncertain significance 541341 rs901204498 4:184605970-184605970 4:183684817-183684817
38 TRAPPC11 NM_021942.6(TRAPPC11):c.2084C>T (p.Thr695Met)SNV Uncertain significance 541343 rs759325090 4:184614147-184614147 4:183692994-183692994
39 TRAPPC11 NM_021942.6(TRAPPC11):c.3002T>A (p.Val1001Asp)SNV Uncertain significance 541348 rs200989029 4:184626170-184626170 4:183705017-183705017
40 TRAPPC11 NM_021942.6(TRAPPC11):c.2641A>G (p.Thr881Ala)SNV Uncertain significance 541342 rs772814181 4:184618668-184618668 4:183697515-183697515
41 TRAPPC11 NM_021942.6(TRAPPC11):c.3236A>G (p.Asn1079Ser)SNV Uncertain significance 541346 rs898762603 4:184629606-184629606 4:183708453-183708453
42 TRAPPC11 NM_021942.6(TRAPPC11):c.1367-3T>CSNV Uncertain significance 541354 rs1395631451 4:184605455-184605455 4:183684302-183684302
43 TRAPPC11 NM_021942.6(TRAPPC11):c.2776A>G (p.Thr926Ala)SNV Uncertain significance 541344 rs1219763538 4:184618913-184618913 4:183697760-183697760
44 TRAPPC11 NM_021942.6(TRAPPC11):c.581A>G (p.Glu194Gly)SNV Uncertain significance 548541 rs1554007320 4:184595886-184595886 4:183674733-183674733
45 TRAPPC11 NM_021942.6(TRAPPC11):c.1618A>G (p.Asn540Asp)SNV Uncertain significance 569339 rs1561045163 4:184606287-184606287 4:183685134-183685134
46 TRAPPC11 NM_021942.6(TRAPPC11):c.2071C>G (p.Leu691Val)SNV Uncertain significance 573560 4:184614134-184614134 4:183692981-183692981
47 TRAPPC11 NM_021942.6(TRAPPC11):c.2234C>A (p.Thr745Lys)SNV Uncertain significance 580377 4:184614297-184614297 4:183693144-183693144
48 TRAPPC11 NM_021942.6(TRAPPC11):c.2399A>G (p.Asn800Ser)SNV Uncertain significance 578306 4:184615082-184615082 4:183693929-183693929
49 TRAPPC11 NM_021942.6(TRAPPC11):c.1277T>C (p.Val426Ala)SNV Uncertain significance 574490 4:184605197-184605197 4:183684044-183684044
50 TRAPPC11 NM_021942.6(TRAPPC11):c.2530C>A (p.Arg844Ser)SNV Uncertain significance 572543 4:184615778-184615778 4:183694625-183694625

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

73
# 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

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