FSHD2
MCID: FCS011
MIFTS: 36

Facioscapulohumeral Muscular Dystrophy 2 (FSHD2)

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

Aliases & Classifications for Facioscapulohumeral Muscular Dystrophy 2

MalaCards integrated aliases for Facioscapulohumeral Muscular Dystrophy 2:

Name: Facioscapulohumeral Muscular Dystrophy 2 56 12 73 29 6
Fshd2 56 12 73
Fascioscapulohumeral Muscular Dystrophy 2, Digenic 56 13
Facioscapulohumeral Muscular Dystrophy 1b 12 71
Fshd1b 56 73
Muscular Dystrophy, Facioscapulohumeral, Type 1b; Fshd1b 56
Facioscapulohumeral Muscular Dystrophy 2, Digenic 56
Muscular Dystrophy, Facioscapulohumeral, Type 1b 56
Dystrophy, Muscular, Facioscapulohumeral, Type 2 39
Muscular Dystrophy, Facioscapulohumeral, Type 2 56
Digenic Facioscapulohumeral Muscular Dystrophy 73
Facioscapulohumeral Muscular Dystrophy Type 1b 73
Facioscapulohumeral Muscular Dystrophy Type 2 12
Fshd2, Digenic 56
Digenic Fshd2 73

Characteristics:

HPO:

31
facioscapulohumeral muscular dystrophy 2:
Onset and clinical course adult onset
Inheritance digenic inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0111193
OMIM 56 158901
MeSH 43 D020391
MedGen 41 C1834671
UMLS 71 C1834671

Summaries for Facioscapulohumeral Muscular Dystrophy 2

OMIM : 56 Facioscapulohumeral muscular dystrophy is a form of muscular dystrophy characterized by muscle weakness that first affects the facial muscles and upper extremities, later progressing to involve the lower extremities. The pattern of weakness is usually asymmetric (summary by Lemmers et al., 2012). FSHD1 (158900), which is clinically indistinguishable from FSHD2, is associated with contraction of the D4Z4 macrosatellite repeat (see 606009) in the subtelomeric region of chromosome 4q35. The disease mechanisms of FSHD1 and FSHD2 converge at the level of D4Z4 chromatin relaxation and variegated expression of DUX4 in skeletal muscle (summary by Lemmers et al., 2012). (158901)

MalaCards based summary : Facioscapulohumeral Muscular Dystrophy 2, also known as fshd2, is related to facioscapulohumeral muscular dystrophy 1 and muscular dystrophy. An important gene associated with Facioscapulohumeral Muscular Dystrophy 2 is SMCHD1 (Structural Maintenance Of Chromosomes Flexible Hinge Domain Containing 1). Affiliated tissues include skeletal muscle, lung and testes, and related phenotypes are facial palsy and hearing impairment

Disease Ontology : 12 A facioscapulohumeral muscular dystrophy that has material basis in digenic inheritance of a heterozygous mutation in SMCHDI on 18p11.32 and a haplotype on chromosome 4 that is permissive for DUX4 expression.

UniProtKB/Swiss-Prot : 73 Facioscapulohumeral muscular dystrophy 2: A degenerative muscle disease characterized by slowly progressive weakness of the muscles of the face, upper-arm, and shoulder girdle. The onset of symptoms usually occurs in the first or second decade of life. Affected individuals usually present with impairment of upper extremity elevation. This tends to be followed by facial weakness, primarily involving the orbicularis oris and orbicularis oculi muscles.

Related Diseases for Facioscapulohumeral Muscular Dystrophy 2

Diseases in the Facioscapulohumeral Muscular Dystrophy 1 family:

Facioscapulohumeral Muscular Dystrophy 2

Diseases related to Facioscapulohumeral Muscular Dystrophy 2 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 facioscapulohumeral muscular dystrophy 1 30.0 SMCHD1 FRG2
2 muscular dystrophy 29.2 SMCHD1 FRG2 DNMT3B
3 bosma arhinia microphthalmia syndrome 10.3
4 microphthalmia 10.3
5 18p deletion syndrome 10.3
6 muscular dystrophy, limb-girdle, autosomal recessive 1 10.2
7 myopathy 10.2
8 neuromuscular disease 10.2
9 muscular disease 9.4 SMCHD1 FRG2

Graphical network of the top 20 diseases related to Facioscapulohumeral Muscular Dystrophy 2:



Diseases related to Facioscapulohumeral Muscular Dystrophy 2

Symptoms & Phenotypes for Facioscapulohumeral Muscular Dystrophy 2

Human phenotypes related to Facioscapulohumeral Muscular Dystrophy 2:

31 (show all 7)
# Description HPO Frequency HPO Source Accession
1 facial palsy 31 very rare (1%) HP:0010628
2 hearing impairment 31 very rare (1%) HP:0000365
3 scapular winging 31 very rare (1%) HP:0003691
4 pelvic girdle muscle weakness 31 very rare (1%) HP:0003749
5 foot dorsiflexor weakness 31 very rare (1%) HP:0009027
6 beevor's sign 31 very rare (1%) HP:0030664
7 scapulohumeral muscular dystrophy 31 HP:0008970

Clinical features from OMIM:

158901

Drugs & Therapeutics for Facioscapulohumeral Muscular Dystrophy 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Neurological and Psychiatric Comorbidities Patients With FSHD 1 and 2 Unknown status NCT02032979
2 Clinical, Genetic and Epigenetic Characterization of Patients With FSHD Type 1 and FSHD Type 2 Unknown status NCT01970735
3 Study of Morphology and Functional Magnetic Resonance Imaging (MRI) Muscle Patients With Muscular Dystrophy Type FSHD Benefiting a Physical Training Introduced. Completed NCT01990976
4 The UK Facioscapulohumeral Muscular Dystrophy Patient Registry Recruiting NCT04001582

Search NIH Clinical Center for Facioscapulohumeral Muscular Dystrophy 2

Genetic Tests for Facioscapulohumeral Muscular Dystrophy 2

Genetic tests related to Facioscapulohumeral Muscular Dystrophy 2:

# Genetic test Affiliating Genes
1 Facioscapulohumeral Muscular Dystrophy 2 29 SMCHD1

Anatomical Context for Facioscapulohumeral Muscular Dystrophy 2

MalaCards organs/tissues related to Facioscapulohumeral Muscular Dystrophy 2:

40
Skeletal Muscle, Lung, Testes

Publications for Facioscapulohumeral Muscular Dystrophy 2

Articles related to Facioscapulohumeral Muscular Dystrophy 2:

(show top 50) (show all 82)
# Title Authors PMID Year
1
The FSHD2 gene SMCHD1 is a modifier of disease severity in families affected by FSHD1. 61 56 6
24075187 2013
2
Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2. 61 56 6
23143600 2012
3
SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome. 61 6
28067909 2017
4
Patients with a phenotype consistent with facioscapulohumeral muscular dystrophy display genetic and epigenetic heterogeneity. 61 56
21984748 2012
5
Clinical features of facioscapulohumeral muscular dystrophy 2. 61 56
20975055 2010
6
Facioscapulohumeral Muscular Dystrophy 61 6
20301616 1999
7
De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development. 6
28067911 2017
8
Specific loss of histone H3 lysine 9 trimethylation and HP1gamma/cohesin binding at D4Z4 repeats is associated with facioscapulohumeral dystrophy (FSHD). 56
19593370 2009
9
Hypomethylation of D4Z4 in 4q-linked and non-4q-linked facioscapulohumeral muscular dystrophy. 56
14634647 2003
10
Further exclusion of FSHD1B from the telomeric region of 10q. 56
10732819 1997
11
Evidence for heterogeneity in facioscapulohumeral muscular dystrophy (FSHD). 56
8328457 1993
12
Facioscapulohumeral Muscular Dystrophies. 61
31794465 2019
13
Methylation hotspots evidenced by deep sequencing in patients with facioscapulohumeral dystrophy and mosaicism. 61
31872053 2019
14
Intronic SMCHD1 variants in FSHD: testing the potential for CRISPR-Cas9 genome editing. 61
31676591 2019
15
Role of the Chromosome Architectural Factor SMCHD1 in X-Chromosome Inactivation, Gene Regulation, and Disease in Humans. 61
31420322 2019
16
SMCHD1 mutation spectrum for facioscapulohumeral muscular dystrophy type 2 (FSHD2) and Bosma arhinia microphthalmia syndrome (BAMS) reveals disease-specific localisation of variants in the ATPase domain. 61
31243061 2019
17
Deciphering the complexity of the 4q and 10q subtelomeres by molecular combing in healthy individuals and patients with facioscapulohumeral dystrophy. 61
31010831 2019
18
Analysis of the 4q35 chromatin organization reveals distinct long-range interactions in patients affected with Facio-Scapulo-Humeral Dystrophy. 61
31316120 2019
19
A ubiquitin-like domain is required for stabilizing the N-terminal ATPase module of human SMCHD1. 61
31925095 2019
20
4q-D4Z4 chromatin architecture regulates the transcription of muscle atrophic genes in facioscapulohumeral muscular dystrophy. 61
31097473 2019
21
FSHD1 and FSHD2 form a disease continuum. 61
30979860 2019
22
FSHD1 or FSHD2: That is the question: The answer: It's all just FSHD. 61
30979855 2019
23
Genotype-phenotype correlations in FSHD. 61
30871534 2019
24
A ubiquitin-like domain is required for stabilizing the N-terminal ATPase module of human SMCHD1. 61
31312724 2019
25
Different clinicopathological features between Japanese siblings with facioscapulohumeral muscular dystrophy 2 with a novel nonsense SMCHD1 mutation (Arg552∗). 61
30327220 2018
26
A patient-derived iPSC model revealed oxidative stress increases facioscapulohumeral muscular dystrophy-causative DUX4. 61
30107443 2018
27
The French National Registry of patients with Facioscapulohumeral muscular dystrophy. 61
30514324 2018
28
Facioscapulohumeral Muscular Dystrophy: Update on Pathogenesis and Future Treatments. 61
30361930 2018
29
Cis D4Z4 repeat duplications associated with facioscapulohumeral muscular dystrophy type 2. 61
30281091 2018
30
Inflammatory facioscapulohumeral muscular dystrophy type 2 in 18p deletion syndrome. 61
30055030 2018
31
FSHD type 2 and Bosma arhinia microphthalmia syndrome: Two faces of the same mutation. 61
29980640 2018
32
Identification of SMCHD1 domains for nuclear localization, homo-dimerization, and protein cleavage. 61
30071896 2018
33
Small noncoding RNAs in FSHD2 muscle cells reveal both DUX4- and SMCHD1-specific signatures. 61
29741619 2018
34
Monosomy 18p is a risk factor for facioscapulohumeral dystrophy. 61
29563141 2018
35
FSHD2- and BAMS-associated mutations confer opposing effects on SMCHD1 function. 61
29748383 2018
36
Genotype and phenotype analysis of 43 Iranian facioscapulohumeral muscular dystrophy patients; Evidence for anticipation. 61
29402602 2018
37
Smchd1 haploinsufficiency exacerbates the phenotype of a transgenic FSHD1 mouse model. 61
29281018 2018
38
Digenic Inheritance of Shortened Repeat Units of the D4Z4 Region and a Loss-of-Function Variant in SMCHD1 in a Family With FSHD. 61
30546343 2018
39
Deep characterization of a common D4Z4 variant identifies biallelic DUX4 expression as a modifier for disease penetrance in FSHD2. 61
29162933 2018
40
Facioscapulohumeral muscular dystrophy. 61
29478599 2018
41
Adding quantitative muscle MRI to the FSHD clinical trial toolbox. 61
29030457 2017
42
Facioscapulohumeral Muscular Dystrophy. 61
28915324 2017
43
SMCHD1 regulates a limited set of gene clusters on autosomal chromosomes. 61
28587678 2017
44
Leg Muscle Involvement in Facioscapulohumeral Muscular Dystrophy: Comparison between Facioscapulohumeral Muscular Dystrophy Types 1 and 2. 61
27855411 2017
45
Facioscapulohumeral Muscular Dystrophy. 61
27922500 2016
46
A complex interplay of genetic and epigenetic events leads to abnormal expression of the DUX4 gene in facioscapulohumeral muscular dystrophy. 61
27816329 2016
47
Integrating clinical and genetic observations in facioscapulohumeral muscular dystrophy. 61
27389814 2016
48
Segregation between SMCHD1 mutation, D4Z4 hypomethylation and Facio-Scapulo-Humeral Dystrophy: a case report. 61
27634379 2016
49
Corrigendum to "Clinical, muscle pathological, and genetic features of Japanese facioscapulohumeral muscular dystrophy 2 (FSHD2) patients with SMCHD1 mutations": [Neuromuscular Disorders 26/4-5 (2016) 300-308]. 61
27312129 2016
50
Allele-specific DNA hypomethylation characterises FSHD1 and FSHD2. 61
26831754 2016

Variations for Facioscapulohumeral Muscular Dystrophy 2

ClinVar genetic disease variations for Facioscapulohumeral Muscular Dystrophy 2:

6 (show top 50) (show all 57) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SMCHD1 NM_015295.2(SMCHD1):c.1030C>T (p.Arg344Ter)SNV Pathogenic 280772 rs886041918 18:2694681-2694681 18:2694683-2694683
2 SMCHD1 NM_015295.2(SMCHD1):c.1302_1306del (p.Tyr434_Arg436delinsTer)deletion Pathogenic 39855 rs387907319 18:2697996-2698000 18:2697998-2698002
3 SMCHD1 NM_015295.2(SMCHD1):c.2068C>T (p.Pro690Ser)SNV Pathogenic 39856 rs397514623 18:2707565-2707565 18:2707567-2707567
4 SMCHD1 NM_015295.2(SMCHD1):c.1608del (p.Asp537fs)deletion Pathogenic 39857 rs1057519614 18:2700875-2700875 18:2700877-2700877
5 SMCHD1 SMCHD1, IVS29DS, G-A, +1SNV Pathogenic 39858
6 SMCHD1 NM_015295.2(SMCHD1):c.4566G>A (p.Thr1522=)SNV Pathogenic 39859 18:2762234-2762234 18:2762236-2762236
7 SMCHD1 NM_015295.2(SMCHD1):c.1580C>T (p.Thr527Met)SNV Pathogenic 88705 rs397518422 18:2700849-2700849 18:2700851-2700851
8 SMCHD1 NM_015295.2(SMCHD1):c.408A>C (p.Glu136Asp)SNV Pathogenic 375764 rs1057519643 18:2667014-2667014 18:2667015-2667015
9 SMCHD1 NM_015295.2(SMCHD1):c.410G>A (p.Gly137Glu)SNV Pathogenic 375765 rs1057519644 18:2667016-2667016 18:2667017-2667017
10 SMCHD1 NM_015295.2(SMCHD1):c.1040+1G>ASNV Pathogenic 464158 rs1245372794 18:2694692-2694692 18:2694694-2694694
11 SMCHD1 NM_015295.2(SMCHD1):c.3484C>T (p.Gln1162Ter)SNV Pathogenic 532808 rs1555644339 18:2739488-2739488 18:2739490-2739490
12 SMCHD1 NM_015295.2(SMCHD1):c.4104del (p.Val1369fs)deletion Pathogenic 532807 rs1555647265 18:2750442-2750442 18:2750444-2750444
13 SMCHD1 NM_015295.2(SMCHD1):c.4821dup (p.Ile1608fs)duplication Pathogenic 574293 rs1568350731 18:2769792-2769793 18:2769794-2769795
14 SMCHD1 NM_015295.2(SMCHD1):c.4719+1G>TSNV Likely pathogenic 532805 rs886044369 18:2763788-2763788 18:2763790-2763790
15 SMCHD1 NM_015295.2(SMCHD1):c.4108C>T (p.Arg1370Cys)SNV Conflicting interpretations of pathogenicity 448425 rs942559171 18:2750448-2750448 18:2750450-2750450
16 SMCHD1 NM_015295.2(SMCHD1):c.424+10C>TSNV Conflicting interpretations of pathogenicity 260649 rs201631086 18:2667040-2667040 18:2667041-2667041
17 SMCHD1 NM_015295.2(SMCHD1):c.162G>A (p.Ala54=)SNV Uncertain significance 593334 rs766395572 18:2656236-2656236 18:2656237-2656237
18 SMCHD1 NM_015295.2(SMCHD1):c.482G>T (p.Gly161Val)SNV Uncertain significance 662162 18:2673337-2673337 18:2673338-2673338
19 SMCHD1 NM_015295.2(SMCHD1):c.1326T>G (p.Asp442Glu)SNV Uncertain significance 664124 18:2698023-2698023 18:2698025-2698025
20 SMCHD1 NM_015295.2(SMCHD1):c.1525A>G (p.Ile509Val)SNV Uncertain significance 639216 18:2700794-2700794 18:2700796-2700796
21 SMCHD1 NM_015295.2(SMCHD1):c.1971A>G (p.Leu657=)SNV Uncertain significance 655639 18:2706376-2706376 18:2706378-2706378
22 SMCHD1 NM_015295.2(SMCHD1):c.2506C>T (p.Arg836Cys)SNV Uncertain significance 644695 18:2722564-2722564 18:2722566-2722566
23 SMCHD1 NM_015295.2(SMCHD1):c.3361A>G (p.Met1121Val)SNV Uncertain significance 648934 18:2738479-2738479 18:2738481-2738481
24 SMCHD1 NM_015295.2(SMCHD1):c.3563C>G (p.Pro1188Arg)SNV Uncertain significance 642258 18:2740749-2740749 18:2740751-2740751
25 SMCHD1 NM_015295.2(SMCHD1):c.4441G>A (p.Val1481Ile)SNV Uncertain significance 650272 18:2762109-2762109 18:2762111-2762111
26 SMCHD1 NM_015295.2(SMCHD1):c.4774G>T (p.Val1592Leu)SNV Uncertain significance 661722 18:2769746-2769746 18:2769748-2769748
27 SMCHD1 NM_015295.2(SMCHD1):c.5335A>G (p.Ile1779Val)SNV Uncertain significance 662039 18:2775891-2775891 18:2775893-2775893
28 SMCHD1 NM_015295.2(SMCHD1):c.5356G>A (p.Asp1786Asn)SNV Uncertain significance 653033 18:2775912-2775912 18:2775914-2775914
29 SMCHD1 NM_015295.2(SMCHD1):c.5812A>G (p.Met1938Val)SNV Uncertain significance 653934 18:2796039-2796039 18:2796041-2796041
30 SMCHD1 NM_015295.2(SMCHD1):c.4601T>C (p.Val1534Ala)SNV Uncertain significance 464167 rs1555650440 18:2763669-2763669 18:2763671-2763671
31 SMCHD1 NM_015295.2(SMCHD1):c.3841A>G (p.Ile1281Val)SNV Uncertain significance 282658 rs201059575 18:2747559-2747559 18:2747561-2747561
32 SMCHD1 NM_015295.2(SMCHD1):c.3251C>T (p.Thr1084Ile)SNV Uncertain significance 282663 rs371392245 18:2732465-2732465 18:2732467-2732467
33 SMCHD1 NM_015295.2(SMCHD1):c.3245A>G (p.Asn1082Ser)SNV Uncertain significance 283238 rs756368420 18:2732459-2732459 18:2732461-2732461
34 SMCHD1 NM_015295.2(SMCHD1):c.1390G>T (p.Ala464Ser)SNV Uncertain significance 283749 rs752328609 18:2700584-2700584 18:2700586-2700586
35 SMCHD1 NM_015295.2(SMCHD1):c.2612C>A (p.Ser871Tyr)SNV Uncertain significance 287185 rs372975122 18:2724905-2724905 18:2724907-2724907
36 SMCHD1 NM_015295.2(SMCHD1):c.4598T>C (p.Leu1533Ser)SNV Uncertain significance 289129 rs368255259 18:2763666-2763666 18:2763668-2763668
37 SMCHD1 NM_015295.2(SMCHD1):c.4105G>A (p.Val1369Ile)SNV Uncertain significance 289681 rs375198512 18:2750445-2750445 18:2750447-2750447
38 SMCHD1 NM_015295.2(SMCHD1):c.473G>A (p.Arg158His)SNV Uncertain significance 290028 rs531460906 18:2673328-2673328 18:2673329-2673329
39 SMCHD1 NM_015295.2(SMCHD1):c.4255A>G (p.Thr1419Ala)SNV Uncertain significance 532802 rs191487554 18:2751365-2751365 18:2751367-2751367
40 SMCHD1 NM_015295.2(SMCHD1):c.3971G>A (p.Arg1324Lys)SNV Uncertain significance 532804 rs1555647170 18:2750084-2750084 18:2750086-2750086
41 SMCHD1 NM_015295.2(SMCHD1):c.5775T>A (p.Asp1925Glu)SNV Uncertain significance 532803 rs374989057 18:2796002-2796002 18:2796004-2796004
42 SMCHD1 NM_015295.2(SMCHD1):c.3148A>T (p.Ile1050Phe)SNV Uncertain significance 573872 rs1568260824 18:2732362-2732362 18:2732364-2732364
43 SMCHD1 NM_015295.2(SMCHD1):c.4078A>G (p.Met1360Val)SNV Uncertain significance 565905 rs1345271914 18:2750418-2750418 18:2750420-2750420
44 SMCHD1 NC_000018.9:g.(?_2656055)_(2656280_?)dupduplication Uncertain significance 584363 18:2656055-2656280 18:2656056-2656281
45 SMCHD1 NC_000018.9:g.(?_2656055)_(3215241_?)dupduplication Uncertain significance 583867 18:2656055-3215241
46 SMCHD1 NM_015295.2(SMCHD1):c.1202C>T (p.Thr401Met)SNV Uncertain significance 464162 rs1555632935 18:2697899-2697899 18:2697901-2697901
47 SMCHD1 NM_015295.2(SMCHD1):c.2731T>A (p.Leu911Ile)SNV Uncertain significance 464165 rs770371694 18:2726480-2726480 18:2726482-2726482
48 SMCHD1 NM_015295.2(SMCHD1):c.4894C>G (p.Gln1632Glu)SNV Uncertain significance 464168 rs1365539591 18:2770034-2770034 18:2770036-2770036
49 SMCHD1 NM_015295.2(SMCHD1):c.15C>A (p.Asp5Glu)SNV Uncertain significance 464163 rs769401596 18:2656089-2656089 18:2656090-2656090
50 SMCHD1 NM_015295.2(SMCHD1):c.2660G>C (p.Gly887Ala)SNV Uncertain significance 464164 rs1460743863 18:2724953-2724953 18:2724955-2724955

UniProtKB/Swiss-Prot genetic disease variations for Facioscapulohumeral Muscular Dystrophy 2:

73 (show all 24)
# Symbol AA change Variation ID SNP ID
1 DNMT3B p.Cys527Arg VAR_077527
2 DNMT3B p.Pro691Leu VAR_077529 rs889145646
3 SMCHD1 p.Tyr353Cys VAR_069067
4 SMCHD1 p.Arg479Pro VAR_069068
5 SMCHD1 p.Cys492Arg VAR_069069
6 SMCHD1 p.Pro690Ser VAR_069070 rs397514623
7 SMCHD1 p.Ser868Asn VAR_069071
8 SMCHD1 p.Phe1554Ser VAR_069072
9 SMCHD1 p.Gly137Glu VAR_078877 rs105751964
10 SMCHD1 p.Leu194Phe VAR_078882
11 SMCHD1 p.His263Asp VAR_078885
12 SMCHD1 p.Gly425Arg VAR_078892
13 SMCHD1 p.Thr527Met VAR_078898 rs397518422
14 SMCHD1 p.Gly716Ser VAR_078900
15 SMCHD1 p.Leu748Pro VAR_078902
16 SMCHD1 p.Asp849Asn VAR_078904
17 SMCHD1 p.Met1468Ile VAR_078906
18 SMCHD1 p.Ala110Thr VAR_080698
19 SMCHD1 p.Tyr283Cys VAR_080700 rs886041921
20 SMCHD1 p.Gly478Glu VAR_080701
21 SMCHD1 p.Val615Asp VAR_080702
22 SMCHD1 p.Arg1449Lys VAR_080703
23 SMCHD1 p.Gln1463Pro VAR_080704
24 SMCHD1 p.Pro1485Leu VAR_080705

Expression for Facioscapulohumeral Muscular Dystrophy 2

Search GEO for disease gene expression data for Facioscapulohumeral Muscular Dystrophy 2.

Pathways for Facioscapulohumeral Muscular Dystrophy 2

GO Terms for Facioscapulohumeral Muscular Dystrophy 2

Sources for Facioscapulohumeral Muscular Dystrophy 2

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