MCID: MYT012
MIFTS: 42

Myotonia Congenita, Recessive malady

Categories: Genetic diseases, Rare diseases, Cardiovascular diseases, Muscle diseases

Aliases & Classifications for Myotonia Congenita, Recessive

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Aliases & Descriptions for Myotonia Congenita, Recessive:

Name: Myotonia Congenita, Recessive 51 12
Endomyocardial Fibrosis 11 47 49 38 13 67
Becker Disease 47 24 69
Myotonia Congenita, Autosomal Recessive 24 69
Obscure African Cardiomyopathy 11 67
Generalized Myotonia 47 69
Becker's Myotonia 24 48
Becker's Disease 11 47
Emf 42 2
 
Myotonia Congenita Autosomal Recessive 47
African Endomyocardial Fibrosis 11
Becker Generalized Myotonia 67
Becker Muscular Dystrophy 67
Endomyocardial Sclerosis 11
Myotonia Generalized 47
Myotonia Congenita 67
Mcar 69

Characteristics:

HPO:

63
myotonia congenita, recessive:
Inheritance: autosomal recessive inheritance
Onset and clinical course: phenotypic variability, childhood onset

Classifications:



External Ids:

OMIM51 255700
Disease Ontology11 DOID:12932
ICD9CM31 425.0
NCIt44 C34585
MedGen36 C0751360

Summaries for Myotonia Congenita, Recessive

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NIH Rare Diseases:47 Myotonia congenita is a genetic condition characterized by the inability of the skeletal muscles to quickly relax after a voluntary movement.  The symptoms associated with the condition typically appear in childhood and vary from person to person. There are two forms of the disorder:  Becker type, which is the most common form; and Thomsen disease, which is a rare and milder form. Both conditions are caused by mutations in the CLCN1 gene.  However, the conditions have different modes of inheritance.  The Becker type is inherited in an autosomal recessive fashion, and the Thomsen type is inherited in an autosomal dominant manner. Last updated: 12/26/2015

MalaCards based summary: Myotonia Congenita, Recessive, also known as endomyocardial fibrosis, is related to myotonia congenita, dominant and tropical endomyocardial fibrosis, and has symptoms including muscle weakness, myotonia with warm-up phenomenon and percussion myotonia. An important gene associated with Myotonia Congenita, Recessive is CLCN1 (Chloride Voltage-Gated Channel 1), and among its related pathways is Angiogenesis (CST). Affiliated tissues include skeletal muscle and heart, and related mouse phenotypes are hearing/vestibular/ear and no phenotypic analysis.

OMIM:51 Autosomal recessive myotonia congenita is a nondystrophic skeletal muscle disorder characterized by muscle stiffness... (255700) more...

CDC:2 NIOSH research on protecting workers from proven and possible EMF health risks focuses on:

NINDS:48 Myotonia congenita is an inherited neuromuscular disorder characterized by the inability of muscles to quickly relax after a voluntary contraction.

UniProtKB/Swiss-Prot:69 Myotonia congenita, autosomal recessive: A non-dystrophic skeletal muscle disorder characterized by muscle stiffness and an inability of the muscle to relax after voluntary contraction. Most patients have symptom onset in the legs, which later progresses to the arms, neck, and facial muscles. Many patients show marked hypertrophy of the lower limb muscles. The autosomal recessive form (Becker disease) is more severe than the autosomal dominant one (Thomsen disease).

Related Diseases for Myotonia Congenita, Recessive

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Diseases in the Myotonia Congenita, Dominant family:

myotonia congenita, recessive

Diseases related to Myotonia Congenita, Recessive via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 68)
idRelated DiseaseScoreTop Affiliating Genes
1myotonia congenita, dominant31.8CLCN1, DMD
2tropical endomyocardial fibrosis12.1
3thomsen and becker disease11.8
4cardiomyopathy10.2
5heart disease10.2
6hypereosinophilic syndrome10.2
7acquired porencephaly10.2FIP1L1, PDGFRA
8eosinophilia10.1
9myotonia10.1
10male reproductive system disease10.1FIP1L1, PDGFRA
11congenital disorder of glycosylation, type iq10.1FIP1L1, PDGFRA
12diffuse cutaneous mastocytosis10.1FIP1L1, PDGFRA
13classic variant of chromophobe renal cell carcinoma10.1CLCN1, DMD
14central cloudy dystrophy of francois10.1FIP1L1, PDGFRA
15endocarditis10.0
16pericardial effusion10.0
17t-b+ severe combined immunodeficiency due to cd3delta/cd3epsilon/cd3zeta10.0FIP1L1, PDGFRA
18schistosomiasis10.0
19churg-strauss syndrome10.0
20paralytic lagophthalmos10.0CLCN1, DMD, FIP1L1
21temporal lobe epilepsy10.0FIP1L1, PDGFRA
22malaria9.9
23restrictive cardiomyopathy9.9
24pulmonary hypertension9.9
25leukemia9.9
26rheumatic heart disease9.9
27filariasis9.9
28aneurysm9.9
29duodenal obstruction9.9FIP1L1, PDGFRA
30neuronal migration disorders9.8CLCN1, DMD
31rheumatoid arthritis9.8
32ebstein anomaly9.8
33arthritis9.8
34constrictive pericarditis9.8
35pericarditis9.8
36antiphospholipid syndrome9.8
37merkel cell carcinoma9.7FIP1L1, PDGFRA, RNASE3
38hypotrichosis simplex9.7FIP1L1, PDGFRA, RNASE3
39loeffler syndrome9.7FIP1L1, PDGFRA, RNASE3
40systemic lupus erythematosus9.6
41budd-chiari syndrome9.6
42hepatocellular carcinoma9.6
43crohn's disease9.6
44dilated cardiomyopathy9.6
45hepatitis9.6
46ulcerative colitis9.6
47lymphoma9.6
48colitis9.6
49atrial fibrillation9.6
50lung abscess9.6

Comorbidity relations with Myotonia Congenita, Recessive via Phenotypic Disease Network (PDN):


Ischemic Heart DiseaseFamilial Atrial Fibrillation
Heart Disease

Graphical network of the top 20 diseases related to Myotonia Congenita, Recessive:



Diseases related to myotonia congenita, recessive

Symptoms for Myotonia Congenita, Recessive

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Symptoms by clinical synopsis from OMIM:

255700

Clinical features from OMIM:

255700

Human phenotypes related to Myotonia Congenita, Recessive:

 63 (show all 9)
id Description HPO Frequency HPO Source Accession
1 muscle weakness63 common (75%) HP:0001324
2 myotonia with warm-up phenomenon63 27% HP:0003740
3 percussion myotonia63 26% HP:0010548
4 muscle stiffness63 25% HP:0003552
5 skeletal muscle hypertrophy63 15% HP:0003712
6 myalgia63 11% HP:0003326
7 dysphagia63 HP:0002015
8 emg63 HP:0003730
9 muscle hypertrophy of the lower extremities63 HP:0008968

UMLS symptoms related to Myotonia Congenita, Recessive:


muscular stiffness, myalgia, lid lag, weakness

Drugs & Therapeutics for Myotonia Congenita, Recessive

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Drugs for Myotonia Congenita, Recessive (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 20)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1Immunoglobulins, IntravenousPhase 3, Phase 1324
2ImmunoglobulinsPhase 3, Phase 16045
3gamma-GlobulinsPhase 3, Phase 1317
4AntibodiesPhase 3, Phase 16045
5Rho(D) Immune GlobulinPhase 3, Phase 1317
6Plasma SubstitutesPhase 3233
7Blood SubstitutesPhase 3246
8
SpironolactoneapprovedPhase 22221952-01-7, 52-01-75833
Synonyms:
4-18-00-01601 (Beilstein Handbook Reference)
4-Pregnen-21-oic acid-17alpha-ol-3-one-7alpha-thiol gamma-lactone 7-acetate
496916-40-6
52-01-7
7-alpha-Acetylthio-3-oxo-17-alpha-pregn-4-ene-21,17-beta-carbolactone
7alpha-(acetylsulfanyl)-3-oxo-17alpha-pregn-4-ene-21,17-carbolactone
AB00513806
AC-4214
AC1L1L8Q
Abbolactone
Acelat
Aldace
Aldactazide
Aldactide
Aldactone
Aldactone (TN)
Aldactone A
Alderon
Aldopur
Almatol
Alphapharm Brand of Spironolactone
Alpharma Brand of Spironolactone
Alter Brand of Spironolactone
Altex
Aquareduct
Ashbourne Brand of Spironolactone
Azupharma Brand of Spironolactone
BIDD:PXR0071
BPBio1_000194
BRD-K90027355-001-03-4
BRN 0057767
BSPBio_000176
C07310
C24H32O4S
CHEBI:428201
CHEBI:45692
CHEBI:9241
CHEMBL1393
CID5833
CPD000471892
Cardel Brand of Spironolactone
D00443
D013148
DB00421
Deverol
Dexo Brand of Spironolactone
Diatensec
Dira
Duraspiron
EINECS 200-133-6
Espironolactona
Espironolactona Alter
Espironolactona Mundogen
Espironolactona [INN-Spanish]
Euteberol
Flumach
Frumikal
Generosan Brand of Spironolactone
HMS1568I18
HMS2090N21
HSDB 3184
Hormosan Brand of Spironolactone
I06-1970
Jenapharm Brand of Spironolactone
Jenaspiron
LS-118614
LT00772287
Lacalmin
Lacdene
Laractone
MLS001074672
MLS001333253
MLS001333254
MLS002153245
MLS002207058
Mayoly-Spindler Brand of Spironolactone
Melarcon
Merck dura Brand of Spironolactone
Mundogen Brand of Spironolactone
NCGC00164397-01
 
NCGC00164397-02
NSC 150399
NSC150399
Nefurofan
Novo Spiroton
Novo-Spiroton
NovoSpiroton
Novopharm Brand of Spironolactone
Osyrol
Pfizer Brand of Spironolactone
Pharmafrid Brand of Spironolactone
Practon
Prestwick0_000128
Prestwick1_000128
Prestwick2_000128
Prestwick3_000128
Roche Brand of Spironolactone
S0260
S3378_SIGMA
SAM002264648
SC 9420
SC-9420
SC9420
SMR000471892
SNL
SPBio_002115
Sagisal
Searle Brand of Spironolactone
Sincomen
Spiractin
Spiresis
Spiretic
Spiridon
Spiro L.U.T.
Spiro(17H-cyclopenta(a)phenauthrene-17,2'-(3'H)-furan)
Spiro-Tablinen
Spiro[17H-cyclopenta[a]phenauthrene-17,2'-(3'H)-furan]
Spirobeta
Spiroctan
Spiroctanie
Spiroderm
Spirogamma
Spirolactone
Spirolakton
Spirolang
Spirolone
Spirone
Spirono Isis
Spirono-Isis
Spironocompren
Spironolactone
Spironolactone (JP15/USP/INN)
Spironolactone A
Spironolactone [BAN:INN:JAN]
Spironolactone [INN:BAN:JAN]
Spironolactonum
Spironolactonum [INN-Latin]
Spironolattone
Spironolattone [DCIT]
Spironone
Spirospare
Sprioderm
Supra-puren
Suracton
UNII-27O7W4T232
Uractone
Urusonin
Veroshpiron
Verospiron
Verospirone
Verospirone Opianin
WLN: L E5 B666 FX OV MUTJ A1 E1 KSV1 F-& CT5VOXTJ
Worwag Brand of Spironolactone
Xenalon
ZINC03861599
betapharm Brand of Spironolactone
ct Arzneimittel Brand of Spironolactone
ct-Arzneimittel Brand of Spironolactone
spiro von ct
spironolactone
spironolattone
von ct, spiro
9MineralocorticoidsPhase 2352
10Natriuretic AgentsPhase 21645
11Mineralocorticoid Receptor AntagonistsPhase 2333
12Hormone AntagonistsPhase 212778
13Hormones, Hormone Substitutes, and Hormone AntagonistsPhase 212767
14Diuretics, Potassium SparingPhase 21827
15diureticsPhase 21372
16HormonesPhase 213979
17Radiopharmaceuticals485
18
Iodine5467553-56-2807
Synonyms:
I2
Iode
Iodine-molecule
 
Iodio
Iodum
Jod
Jood
Tincture iodine
19cadexomer iodine514
203-Iodobenzylguanidine67

Interventional clinical trials:

idNameStatusNCT IDPhase
1Intravenous Immunoglobulin (IVIg) for Parvovirus B19(PVB19) Mediated CardiomyopathyRecruitingNCT00892112Phase 3
2Spironolactone in Adult Congenital Heart DiseaseActive, not recruitingNCT01069510Phase 2
3IVIg Therapy for Patients With Idiopathic Cardiomyopathy and Endomyocardial Biopsy Proven High PVB19 Viral LoadUnknown statusNCT00659386Phase 1
4Left Atrial Volume Index in Asymptomatic Aortic StenosisCompletedNCT02395107
5Noninvasive Imaging of Heart Failure: A Pilot StudyCompletedNCT01160471
6The Genetic Basis of Acquired Heart Disease in AfricaRecruitingNCT02124109
7Magnetic Resonance Imaging and FibrosisRecruitingNCT02790008
8The Leiden Nonischemic Cardiomyopathy StudyRecruitingNCT01940081
9Assessment of Myocardial Fibrosis in Aortic STenosisActive, not recruitingNCT02316587

Search NIH Clinical Center for Myotonia Congenita, Recessive


Cochrane evidence based reviews: endomyocardial fibrosis

Genetic Tests for Myotonia Congenita, Recessive

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Genetic tests related to Myotonia Congenita, Recessive:

id Genetic test Affiliating Genes
1 Myotonia Congenita, Autosomal Recessive24 CLCN1

Anatomical Context for Myotonia Congenita, Recessive

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MalaCards organs/tissues related to Myotonia Congenita, Recessive:

35
Skeletal muscle, Heart

Animal Models for Myotonia Congenita, Recessive or affiliated genes

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MGI Mouse Phenotypes related to Myotonia Congenita, Recessive:

40
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053779.2CLCN1, DMD, FGF9, JAG1
2MP:00030129.0CLCN1, DMD, JAG1, PDGFRA, SLC16A2
3MP:00053698.7CLCN1, DMD, FGF9, JAG1, PDGFRA
4MP:00053908.0CLCN1, DMD, FGF9, JAG1, PDGFRA

Publications for Myotonia Congenita, Recessive

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Variations for Myotonia Congenita, Recessive

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UniProtKB/Swiss-Prot genetic disease variations for Myotonia Congenita, Recessive:

69 (show all 37)
id Symbol AA change Variation ID SNP ID
1CLCN1p.Arg105CysVAR_001582rs201509501
2CLCN1p.Asp136GlyVAR_001584
3CLCN1p.Tyr150CysVAR_001585
4CLCN1p.Phe161ValVAR_001586
5CLCN1p.Val165GlyVAR_001587
6CLCN1p.Phe167LeuVAR_001588rs149729531
7CLCN1p.Gly200ArgVAR_001589
8CLCN1p.Gly230GluVAR_001590rs80356700
9CLCN1p.Val236LeuVAR_001591
10CLCN1p.Tyr261CysVAR_001592rs200621976
11CLCN1p.Gly285GluVAR_001593rs150885084
12CLCN1p.Glu291LysVAR_001596rs121912805
13CLCN1p.Ala313ThrVAR_001599rs80356692
14CLCN1p.Val327IleVAR_001601rs774396430
15CLCN1p.Ile329ThrVAR_001602
16CLCN1p.Arg338GlnVAR_001603rs80356703
17CLCN1p.Phe413CysVAR_001604rs121912799
18CLCN1p.Ala415ValVAR_001605
19CLCN1p.Gly482ArgVAR_001608rs746125212
20CLCN1p.Met485ValVAR_001609rs146457619
21CLCN1p.Arg496SerVAR_001610rs121912801
22CLCN1p.Gln552ArgVAR_001611rs80356696
23CLCN1p.Ile556AsnVAR_001612rs80356697
24CLCN1p.Val563IleVAR_001613
25CLCN1p.Phe708LeuVAR_001614
26CLCN1p.Gln43ArgVAR_075588
27CLCN1p.Tyr137AspVAR_075592rs748639603
28CLCN1p.Gln160HisVAR_075594rs771532474
29CLCN1p.Trp164ArgVAR_075595
30CLCN1p.Gly190SerVAR_075596rs797045032
31CLCN1p.Ile197ArgVAR_075598
32CLCN1p.Gly270ValVAR_075600
33CLCN1p.Cys277ArgVAR_075601rs757109632
34CLCN1p.Cys277TyrVAR_075602
35CLCN1p.Gln412ProVAR_075603
36CLCN1p.Gly499ArgVAR_075606rs121912807
37CLCN1p.Val640GlyVAR_075612

Clinvar genetic disease variations for Myotonia Congenita, Recessive:

5 (show all 200)
id Gene Variation Type Significance SNP ID Assembly Location
1DMDNM_004006.2(DMD): c.8944C> T (p.Arg2982Ter)SNVPathogenicrs128625229GRCh37Chr X, 31462738: 31462738
2DMDNM_004006.2(DMD): c.10108C> T (p.Arg3370Ter)SNVPathogenicrs104894787GRCh37Chr X, 31196901: 31196901
3DMDNM_004006.2(DMD): c.433C> T (p.Arg145Ter)SNVPathogenicrs128626235GRCh37Chr X, 32834682: 32834682
4DMDDMD, IVS19, A-C, +3SNVPathogenicChr na, -1: -1
5DMDDMD, IVS57, G-C, -1SNVPathogenicChr na, -1: -1
6DMDNM_004006.2(DMD): c.503C> A (p.Ala168Asp)SNVPathogenicrs128626236GRCh37Chr X, 32834612: 32834612
7DMDDMD, IVS2, G-T, -1SNVPathogenicChr na, -1: -1
8DMDNM_004006.2(DMD): c.691T> A (p.Tyr231Asn)SNVPathogenicrs128626237GRCh37Chr X, 32717369: 32717369
9DMDBMD, IVS13, G-T, -1SNVPathogenicChr na, -1: -1
10DMDNM_004006.2(DMD): c.5899C> T (p.Arg1967Ter)SNVPathogenicrs128626249GRCh37Chr X, 32360240: 32360240
11DMDNM_004006.2(DMD): c.6373C> T (p.Gln2125Ter)SNVPathogenicrs128626251GRCh37Chr X, 32235098: 32235098
12DMDNM_004006.2(DMD): c.10262C> T (p.Ala3421Val)SNVPathogenicrs104894791GRCh37Chr X, 31196049: 31196049
13DMDDMD, 1-BP DEL, 10683CdeletionPathogenicChr na, -1: -1
14DMDNM_004006.2(DMD): c.3631G> T (p.Glu1211Ter)SNVPathogenicrs267606771GRCh37Chr X, 32466728: 32466728
15DMDNM_004006.2(DMD): c.9568C> T (p.Arg3190Ter)SNVPathogenicrs104894797GRCh37Chr X, 31224780: 31224780
16DMDNM_004006.2(DMD): c.3940C> T (p.Arg1314Ter)SNVPathogenicrs5030730GRCh37Chr X, 32456489: 32456489
17DMDNM_004006.2(DMD): c.9225-285A> GSNVPathogenicrs587776747GRCh37Chr X, 31279418: 31279418
18DMDDMD, IVS25, A-G, +2036SNVPathogenicChr na, -1: -1
19DMDNM_004006.2(DMD): c.8713C> T (p.Arg2905Ter)SNVPathogenicrs128627256GRCh37Chr X, 31496447: 31496447
20DMDNM_004006.2(DMD): c.1812+1G> ASNVLikely pathogenic, Pathogenicrs373286166GRCh37Chr X, 32591646: 32591646
21DMDNM_004006.2(DMD): c.9164-1G> CSNVPathogenicrs398124082GRCh37Chr X, 31341776: 31341776
22DMDNM_004006.2(DMD): c.8680G> T (p.Glu2894Ter)SNVPathogenicrs727503802GRCh37Chr X, 31496480: 31496480
23DMDNM_004006.2(DMD): c.5363C> G (p.Ser1788Ter)SNVPathogenicrs199774535GRCh37Chr X, 32366608: 32366608
24DMDNM_004006.2(DMD): c.4806A> T (p.Gly1602=)SNVPathogenicrs727503830GRCh37Chr X, 32398666: 32398666
25DMDNM_004006.2(DMD): c.3532G> T (p.Glu1178Ter)SNVPathogenicrs727503836GRCh38Chr X, 32454733: 32454733
26DMDNM_004006.2(DMD): c.2956C> T (p.Gln986Ter)SNVPathogenicrs727503844GRCh37Chr X, 32486821: 32486821
27DMDNM_004006.2(DMD): c.2755A> T (p.Lys919Ter)SNVPathogenicrs727503850GRCh38Chr X, 32484967: 32484967
28DMDNM_004006.2(DMD): c.2484T> G (p.Tyr828Ter)SNVPathogenicrs727503858GRCh37Chr X, 32509532: 32509532
29DMDNM_004006.2(DMD): c.883C> T (p.Arg295Ter)SNVPathogenicrs727503864GRCh38Chr X, 32697947: 32697947
30CLCN1NM_000083.2(CLCN1): c.1238T> G (p.Phe413Cys)SNVPathogenicrs121912799GRCh37Chr 7, 143029583: 143029583
31CLCN1NM_000083.2(CLCN1): c.2795C> T (p.Pro932Leu)SNVPathogenicrs80356706GRCh37Chr 7, 143048886: 143048886
32CLCN1CLCN1, IVSDS, G-A, +1SNVPathogenicChr na, -1: -1
33CLCN1NM_000083.2(CLCN1): c.1488G> T (p.Arg496Ser)SNVPathogenicrs121912801GRCh37Chr 7, 143036620: 143036620
34CLCN1CLCN1, GLY482ARGundetermined variantPathogenicChr na, -1: -1
35CLCN1CLCN1, 14-BP DELdeletionPathogenicChr na, -1: -1
36CLCN1NM_000083.2(CLCN1): c.871G> A (p.Glu291Lys)SNVPathogenicrs121912805GRCh37Chr 7, 143027882: 143027882
37CLCN1NM_000083.2(CLCN1): c.950G> A (p.Arg317Gln)SNVPathogenicrs80356702GRCh37Chr 7, 143027961: 143027961
38CLCN1NM_000083.2(CLCN1): c.1495G> A (p.Gly499Arg)SNVPathogenicrs121912807GRCh37Chr 7, 143036627: 143036627
39CLCN1CLCN1, 1-BP INS, 831GinsertionPathogenicChr na, -1: -1
40CLCN1NM_000083.2(CLCN1): c.2680C> T (p.Arg894Ter)SNVPathogenicrs55960271GRCh37Chr 7, 143048771: 143048771
41CLCN1CLCN1, ARG300TERundetermined variantPathogenicChr na, -1: -1
42CLCN1CLCN1, TRP433ARGundetermined variantPathogenicChr na, -1: -1
43DMDNM_004006.2(DMD): c.14_15delAAinsT (p.Glu5Valfs)indelPathogenicrs796065325GRCh37Chr X, 33229415: 33229416
44DMDNM_004006.2(DMD): c.1093C> T (p.Gln365Ter)SNVPathogenicrs794726993GRCh37Chr X, 32663137: 32663137
45DMDNM_004006.2(DMD): c.1070delC (p.Ser357Leufs)deletionPathogenicrs794726994GRCh37Chr X, 32663160: 32663160
46DMDNM_004006.2(DMD): c.1286C> G (p.Ser429Ter)SNVPathogenicrs398123853GRCh37Chr X, 32662294: 32662294
47DMDNM_004006.2(DMD): c.1150-2A> GSNVPathogenicrs794727030GRCh37Chr X, 32662432: 32662432
48DMDNM_004006.2(DMD): c.1533_1536delTCAC (p.His512Trpfs)deletionPathogenicrs794727097GRCh37Chr X, 32613940: 32613943
49DMDNM_004006.2(DMD): c.1704+1G> ASNVPathogenicrs794727123GRCh37Chr X, 32591861: 32591861
50DMDNM_004006.2(DMD): c.1912C> T (p.Gln638Ter)SNVPathogenicrs794727170GRCh37Chr X, 32583899: 32583899
51DMDNM_004006.2(DMD): c.2601_2602delAA (p.Gln869Valfs)deletionPathogenicrs794727322GRCh37Chr X, 32509414: 32509415
52DMDNM_004006.2(DMD): c.2479G> T (p.Glu827Ter)SNVPathogenicrs794727323GRCh37Chr X, 32509537: 32509537
53DMDNM_004006.2(DMD): c.2803+1G> CSNVPathogenicrs398123908GRCh37Chr X, 32503035: 32503035
54DMDNM_004006.2(DMD): c.2804-2A> TSNVPathogenicrs794727357GRCh37Chr X, 32490428: 32490428
55DMDNM_004006.2(DMD): c.2815_2816delTT (p.Leu939Alafs)deletionPathogenicrs794727358GRCh37Chr X, 32490414: 32490415
56DMDNM_004006.2(DMD): c.2933_2934delGA (p.Arg978Thrfs)deletionPathogenicrs794727359GRCh37Chr X, 32490296: 32490297
57DMDNM_004006.2(DMD): c.3497_3500delTATC (p.Leu1166Glnfs)deletionPathogenicrs794727421GRCh37Chr X, 32472882: 32472885
58DMDNM_004006.2(DMD): c.3535G> T (p.Glu1179Ter)SNVPathogenicrs794727422GRCh37Chr X, 32472847: 32472847
59DMDNM_004006.2(DMD): c.3838A> T (p.Lys1280Ter)SNVPathogenicrs794727463GRCh37Chr X, 32459380: 32459380
60DMDNM_004006.2(DMD): c.133C> T (p.Gln45Ter)SNVPathogenicrs794727499GRCh38Chr X, 32849781: 32849781
61DMDNM_004006.2(DMD): c.4315A> T (p.Arg1439Ter)SNVPathogenicrs794727550GRCh37Chr X, 32408217: 32408217
62DMDNM_004006.2(DMD): c.4523delT (p.Leu1508Cysfs)deletionPathogenicrs794727567GRCh37Chr X, 32404578: 32404578
63DMDNM_004006.2(DMD): c.4675-2A> GSNVPathogenicrs794727575GRCh37Chr X, 32398799: 32398799
64DMDNM_004006.2(DMD): c.5697delA (p.Lys1899Asnfs)deletionPathogenicrs794727661GRCh37Chr X, 32361293: 32361293
65DMDNM_004006.2(DMD): c.5868G> A (p.Trp1956Ter)SNVPathogenicrs794727666GRCh37Chr X, 32360271: 32360271
66DMDNM_004006.2(DMD): c.6238delC (p.Gln2080Serfs)deletionPathogenicrs794727672GRCh37Chr X, 32305698: 32305698
67DMDNM_004006.2(DMD): c.6673_6674insGTTT (p.Leu2225Cysfs)insertionPathogenicrs797044743GRCh37Chr X, 31950285: 31950286
68DMDNM_004006.2(DMD): c.6982A> T (p.Lys2328Ter)SNVPathogenicrs754896795GRCh37Chr X, 31893421: 31893421
69DMDNM_004006.2(DMD): c.291dupT (p.Asp98Terfs)duplicationPathogenicrs797044756GRCh37Chr X, 32841478: 32841478
70DMDNM_004006.2(DMD): c.7247dupT (p.Leu2416Phefs)duplicationPathogenicrs797044764GRCh37Chr X, 31838154: 31838154
71DMDNM_004006.2(DMD): c.7295_7296delCC (p.Thr2432Asnfs)deletionPathogenicrs794727746GRCh37Chr X, 31838105: 31838106
72DMDNM_004006.2(DMD): c.7444delC (p.Thr2483Profs)deletionPathogenicrs794727749GRCh37Chr X, 31792175: 31792175
73DMDNM_004006.2(DMD): c.8184delC (p.Lys2729Argfs)deletionPathogenicrs794727763GRCh37Chr X, 31645823: 31645823
74DMDNM_004006.2(DMD): c.8656C> T (p.Gln2886Ter)SNVPathogenicrs201361100GRCh37Chr X, 31497112: 31497112
75DMDNM_004006.2(DMD): c.8669-2A> CSNVPathogenicrs794727770GRCh37Chr X, 31496493: 31496493
76DMDNM_004006.2(DMD): c.415_428delATTCTCCTGAGCTG (p.Ile139Glyfs)deletionPathogenicrs794727795GRCh37Chr X, 32834687: 32834700
77DMDNM_004006.2(DMD): c.9216C> G (p.Tyr3072Ter)SNVPathogenicrs794727820GRCh37Chr X, 31341723: 31341723
78DMDNM_004006.2(DMD): c.9978C> G (p.Tyr3326Ter)SNVPathogenicrs794727832GRCh37Chr X, 31198595: 31198595
79DMDNM_004006.2(DMD): c.565C> T (p.Gln189Ter)SNVPathogenicrs794727861GRCh37Chr X, 32827694: 32827694
80DMDNM_004006.2(DMD): c.547dupT (p.Trp183Leufs)duplicationPathogenicrs796065333GRCh38Chr X, 32809595: 32809595
81DMDNM_004006.2(DMD): c.627delA (p.Ile209Metfs)deletionPathogenicrs794727862GRCh37Chr X, 32827632: 32827632
82DMDNM_004006.2(DMD): c.572C> G (p.Ser191Ter)SNVPathogenicrs794727863GRCh37Chr X, 32827687: 32827687
83DMDNM_004006.2(DMD): c.10554-2A> GSNVPathogenicrs794727890GRCh37Chr X, 31165637: 31165637
84CLCN1NM_000083.2(CLCN1): c.501C> G (p.Phe167Leu)SNVPathogenicrs149729531GRCh37Chr 7, 143018525: 143018525
85CLCN1NM_000083.2(CLCN1): c.568_569delGGinsTC (p.Gly190Ser)indelLikely pathogenicrs797045032GRCh37Chr 7, 143018813: 143018814
86DMDNM_004006.2(DMD): c.5602_5605delAGAA (p.Arg1868Glufs)deletionPathogenicrs863225003GRCh37Chr X, 32361385: 32361388
87DMDNM_004006.2(DMD): c.6611dupA (p.Arg2205Glufs)duplicationPathogenicrs863225007GRCh38Chr X, 31968342: 31968342
88DMDNM_004006.2(DMD): c.8038C> T (p.Arg2680Ter)SNVPathogenicrs863225011GRCh37Chr X, 31645969: 31645969
89DMDNM_004006.2(DMD): c.31+36947G> ASNVPathogenicrs886042106GRCh37Chr X, 33192452: 33192452
90DMDNM_004006.2(DMD): c.5089C> T (p.Gln1697Ter)SNVPathogenicrs886042347GRCh37Chr X, 32382764: 32382764
91DMDNM_004006.2(DMD): c.2603delG (p.Ser868Ilefs)deletionPathogenicrs886042348GRCh37Chr X, 32509413: 32509413
92DMDNM_004006.2(DMD): c.2512C> T (p.Gln838Ter)SNVPathogenicrs886042351GRCh37Chr X, 32509504: 32509504
93DMDNM_004006.2(DMD): c.8111_8112insTTGCCTG (p.Trp2704Cysfs)insertionPathogenicrs886042373GRCh37Chr X, 31645895: 31645896
94DMDNM_004006.2(DMD): c.2316_2317delGA (p.Lys773Valfs)deletionPathogenicrs886042437GRCh37Chr X, 32519935: 32519936
95DMDNM_004006.2(DMD): c.10477C> T (p.Gln3493Ter)SNVPathogenicrs886042495GRCh37Chr X, 31187636: 31187636
96DMDNM_004006.2(DMD): c.1417A> T (p.Lys473Ter)SNVPathogenicrs886042499GRCh37Chr X, 32632485: 32632485
97DMDNM_004006.2(DMD): c.93+1G> ASNVPathogenicrs886042604GRCh37Chr X, 33038255: 33038255
98DMDNM_004006.2(DMD): c.10279C> T (p.Gln3427Ter)SNVPathogenicrs886042691GRCh37Chr X, 31191705: 31191705
99DMDNM_004006.2(DMD): c.5140G> T (p.Glu1714Ter)SNVPathogenicrs886042747GRCh37Chr X, 32382713: 32382713
100DMDNM_004006.2(DMD): c.1047dupA (p.Glu350Argfs)duplicationPathogenicGRCh38Chr X, 32645066: 32645066
101DMDNM_004006.2(DMD): c.10101_10103delAGA (p.Glu3367del)deletionPathogenicrs886042840GRCh37Chr X, 31196906: 31196908
102DMDNM_004006.2(DMD): c.319dupA (p.Thr107Asnfs)duplicationPathogenicGRCh37Chr X, 32841450: 32841450
103DMDNM_004006.2(DMD): c.4550_4556delCTGAAGT (p.Ser1517Trpfs)deletionPathogenicrs886043348GRCh37Chr X, 32404545: 32404551
104DMDNM_004006.2(DMD): c.4174C> T (p.Gln1392Ter)SNVPathogenicrs886043496GRCh37Chr X, 32429928: 32429928
105DMDNM_004006.2(DMD): c.1956delT (p.Asp652Glufs)deletionPathogenicrs886043640GRCh37Chr X, 32583855: 32583855
106DMDNM_004006.2(DMD): c.2052_2053delAG (p.Val685Asnfs)deletionPathogenicrs886043699GRCh38Chr X, 32545274: 32545275
107DMDNM_004006.2(DMD): c.5360dupA (p.Asn1787Lysfs)duplicationPathogenicGRCh37Chr X, 32366611: 32366611
108DMDNM_004006.2(DMD): c.10572T> A (p.Tyr3524Ter)SNVPathogenicrs886043817GRCh37Chr X, 31165617: 31165617
109DMDNM_004006.2(DMD): c.186+2T> ASNVPathogenicrs886043822GRCh37Chr X, 32867843: 32867843
110CLCN1NM_000083.2(CLCN1): c.180+3A> TSNVPathogenicrs202217420GRCh37Chr 7, 143013488: 143013488
111DMDNM_004006.2(DMD): c.10651_10652insCC (p.Gln3551Profs)insertionPathogenicrs886044325GRCh37Chr X, 31165537: 31165538
112DMDNM_004006.2(DMD): c.3413G> A (p.Trp1138Ter)SNVPathogenicrs886044406GRCh37Chr X, 32481575: 32481575
113DMDNM_004006.2(DMD): c.358-1G> ASNVPathogenicrs886044582GRCh37Chr X, 32834758: 32834758
114DMDNM_004006.2(DMD): c.9G> A (p.Trp3Ter)SNVPathogenicrs398122853GRCh37Chr X, 33229421: 33229421
115CLCN1NG_009815.1: g.19647-?_28496+?dupduplicationPathogenicChr na, -1: -1
116DMDNM_004006.2(DMD): c.10033C> T (p.Arg3345Ter)SNVPathogenicrs398123827GRCh37Chr X, 31198540: 31198540
117DMDNM_004006.2(DMD): c.10086+1G> ASNVPathogenicrs398123828GRCh37Chr X, 31198486: 31198486
118DMDNM_004006.2(DMD): c.1012G> T (p.Glu338Ter)SNVPathogenicrs398123830GRCh37Chr X, 32663218: 32663218
119DMDNM_004006.2(DMD): c.10171C> T (p.Arg3391Ter)SNVPathogenicrs398123832GRCh37Chr X, 31196838: 31196838
120DMDNM_004019.2(DMD): c.1020G> A (p.Thr340=)SNVPathogenicrs398123834GRCh37Chr X, 31196785: 31196785
121DMDNM_004006.2(DMD): c.10258dupT (p.Ser3420Phefs)duplicationPathogenicrs398123835GRCh37Chr X, 31196053: 31196053
122DMDNM_004006.2(DMD): c.10446_10447delCT (p.Ser3483Profs)deletionPathogenicrs398123837GRCh37Chr X, 31187666: 31187667
123DMDNM_004006.2(DMD): c.10454delT (p.Leu3485Argfs)deletionPathogenicrs398123839GRCh37Chr X, 31187659: 31187659
124DMDNM_004006.2(DMD): c.1048G> T (p.Glu350Ter)SNVPathogenicrs398123840GRCh37Chr X, 32663182: 32663182
125DMDNM_004006.2(DMD): c.10625delC (p.Pro3542Leufs)deletionPathogenicrs398123844GRCh37Chr X, 31165564: 31165564
126DMDNM_004006.2(DMD): c.1261C> T (p.Gln421Ter)SNVPathogenicrs398123852GRCh37Chr X, 32662319: 32662319
127DMDNM_004006.2(DMD): c.1306dupG (p.Val436Glyfs)duplicationPathogenicrs398123854GRCh37Chr X, 32662274: 32662274
128DMDNM_004006.2(DMD): c.1332-9A> GSNVPathogenicrs72468700GRCh37Chr X, 32632579: 32632579
129DMDNM_004006.2(DMD): c.1341_1342dupAG (p.Val448Glufs)duplicationPathogenicrs398123856GRCh37Chr X, 32632560: 32632561
130DMDNM_004006.2(DMD): c.1371delG (p.Glu459Serfs)deletionPathogenicrs398123857GRCh37Chr X, 32632531: 32632531
131DMDNM_004006.2(DMD): c.137_138dupAT (p.Gly47Metfs)duplicationPathogenicrs398123859GRCh37Chr X, 32867893: 32867894
132DMDNM_004006.2(DMD): c.1465C> T (p.Gln489Ter)SNVPathogenicrs398123861GRCh37Chr X, 32632437: 32632437
133DMDNM_004006.2(DMD): c.1482+1G> TSNVPathogenicrs398123862GRCh37Chr X, 32632419: 32632419
134DMDNM_004006.2(DMD): c.1529_1530delTC (p.Leu510Hisfs)deletionPathogenicrs398123863GRCh37Chr X, 32613946: 32613947
135DMDNM_004006.2(DMD): c.1615C> T (p.Arg539Ter)SNVPathogenicrs398123865GRCh37Chr X, 32591951: 32591951
136DMDNM_004006.2(DMD): c.1886C> A (p.Ser629Ter)SNVPathogenicrs398123867GRCh37Chr X, 32583925: 32583925
137DMDNM_004006.2(DMD): c.1990C> T (p.Gln664Ter)SNVPathogenicrs398123870GRCh37Chr X, 32583821: 32583821
138DMDNM_004006.2(DMD): c.2032C> T (p.Gln678Ter)SNVPathogenicrs398123872GRCh37Chr X, 32563412: 32563412
139DMDNM_004006.2(DMD): c.2125delC (p.Gln709Lysfs)deletionPathogenicrs398123875GRCh37Chr X, 32563319: 32563319
140DMDNM_004006.2(DMD): c.2294_2297delCCAT (p.Ala765Glufs)deletionPathogenicrs398123882GRCh37Chr X, 32519955: 32519958
141DMDNM_004006.2(DMD): c.2332C> T (p.Gln778Ter)SNVPathogenicrs398123883GRCh37Chr X, 32519920: 32519920
142DMDNM_004006.2(DMD): c.2380+1G> CSNVPathogenicrs398123884GRCh37Chr X, 32519871: 32519871
143DMDNM_004006.2(DMD): c.2381-1G> TSNVPathogenicrs398123887GRCh37Chr X, 32509636: 32509636
144DMDNM_004006.2(DMD): c.2419C> T (p.Gln807Ter)SNVPathogenicrs398123888GRCh37Chr X, 32509597: 32509597
145DMDNM_004006.2(DMD): c.2547delT (p.Glu850Lysfs)deletionPathogenicrs398123895GRCh37Chr X, 32509469: 32509469
146DMDNM_004006.2(DMD): c.2650C> T (p.Gln884Ter)SNVPathogenicrs398123903GRCh37Chr X, 32503189: 32503189
147DMDNM_004006.2(DMD): c.2804-1G> ASNVPathogenicrs398123909GRCh37Chr X, 32490427: 32490427
148DMDNM_004006.2(DMD): c.2816T> A (p.Leu939Ter)SNVPathogenicrs398123910GRCh37Chr X, 32490414: 32490414
149DMDNM_004006.2(DMD): c.28delT (p.Cys10Valfs)deletionPathogenicrs398123913GRCh37Chr X, 33229402: 33229402
150DMDNM_004006.2(DMD): c.31+1G> TSNVPathogenicrs398123923GRCh37Chr X, 33229398: 33229398
151DMDNM_004006.2(DMD): c.3151C> T (p.Arg1051Ter)SNVPathogenicrs398123929GRCh37Chr X, 32486626: 32486626
152DMDNM_004006.2(DMD): c.3276+1G> ASNVPathogenicrs398123934GRCh37Chr X, 32482702: 32482702
153DMDNM_004006.2(DMD): c.3295C> T (p.Gln1099Ter)SNVPathogenicrs398123935GRCh37Chr X, 32481693: 32481693
154DMDNM_004006.2(DMD): c.336G> A (p.Trp112Ter)SNVPathogenicrs398123936GRCh37Chr X, 32841433: 32841433
155DMDNM_004006.2(DMD): c.3432+1G> ASNVPathogenicrs398123937GRCh37Chr X, 32481555: 32481555
156DMDNM_004006.2(DMD): c.3580C> T (p.Gln1194Ter)SNVPathogenicrs398123942GRCh37Chr X, 32472802: 32472802
157DMDNM_004006.2(DMD): c.3603+2T> ASNVPathogenicrs146071084GRCh37Chr X, 32472777: 32472777
158DMDNM_004006.2(DMD): c.3639dupA (p.Val1214Serfs)duplicationPathogenicrs398123943GRCh37Chr X, 32466720: 32466720
159DMDNM_004006.2(DMD): c.3747delG (p.Trp1249Cysfs)deletionPathogenicrs398123945GRCh37Chr X, 32466612: 32466612
160DMDNM_004006.2(DMD): c.3779_3785delCTTTGGAinsGG (p.Thr1260Argfs)indelPathogenicrs398123946GRCh37Chr X, 32466574: 32466580
161DMDNM_004006.2(DMD): c.4117C> T (p.Gln1373Ter)SNVPathogenicrs398123948GRCh37Chr X, 32429985: 32429985
162DMDNM_004006.2(DMD): c.412_413delAA (p.Lys138Aspfs)deletionPathogenicrs398123949GRCh37Chr X, 32834702: 32834703
163DMDNM_004006.2(DMD): c.434G> C (p.Arg145Pro)SNVPathogenicrs398123952GRCh37Chr X, 32834681: 32834681
164DMDNM_004006.2(DMD): c.4471_4472delAA (p.Lys1491Glufs)deletionPathogenicrs398123957GRCh37Chr X, 32407664: 32407665
165DMDNM_004006.2(DMD): c.4534_4535delCT (p.Leu1512Glufs)deletionPathogenicrs398123961GRCh37Chr X, 32404566: 32404567
166DMDNM_004006.2(DMD): c.4545_4549delGAAGT (p.Lys1516Terfs)deletionPathogenicrs398123962GRCh37Chr X, 32404552: 32404556
167DMDNM_004006.2(DMD): c.4843A> T (p.Lys1615Ter)SNVPathogenicrs398123969GRCh37Chr X, 32398629: 32398629
168DMDNM_004006.2(DMD): c.5124_5127delGAAA (p.Lys1708Asnfs)deletionPathogenicrs398123979GRCh37Chr X, 32382726: 32382729
169DMDNM_004006.2(DMD): c.5287C> T (p.Arg1763Ter)SNVPathogenicrs398123981GRCh37Chr X, 32380943: 32380943
170DMDNM_004006.2(DMD): c.5530C> T (p.Arg1844Ter)SNVPathogenicrs1064325GRCh37Chr X, 32364116: 32364116
171DMDNM_004006.2(DMD): c.5640T> A (p.Tyr1880Ter)SNVPathogenicrs398123993GRCh37Chr X, 32361350: 32361350
172DMDNM_004006.2(DMD): c.583C> T (p.Arg195Ter)SNVPathogenicrs398123999GRCh37Chr X, 32827676: 32827676
173DMDNM_004006.2(DMD): c.5938G> T (p.Glu1980Ter)SNVPathogenicrs398124001GRCh37Chr X, 32328378: 32328378
174DMDNM_004006.2(DMD): c.6000T> A (p.Tyr2000Ter)SNVPathogenicrs398124002GRCh37Chr X, 32328316: 32328316
175DMDNM_004006.2(DMD): c.6072T> A (p.Cys2024Ter)SNVPathogenicrs373804251GRCh37Chr X, 32328244: 32328244
176DMDNM_004006.2(DMD): c.615T> A (p.Tyr205Ter)SNVPathogenicrs398124004GRCh37Chr X, 32827644: 32827644
177DMDNM_004006.2(DMD): c.6182delC (p.Ala2061Glufs)deletionPathogenicrs398124005GRCh37Chr X, 32305754: 32305754
178DMDNM_004006.2(DMD): c.649+1G> ASNVPathogenicrs398124032GRCh37Chr X, 32827609: 32827609
179DMDNM_004006.2(DMD): c.676_678delAAG (p.Lys226del)deletionPathogenicrs398124034GRCh37Chr X, 32717382: 32717384
180DMDNM_004006.2(DMD): c.6906G> A (p.Trp2302Ter)SNVPathogenicrs398124036GRCh37Chr X, 31947719: 31947719
181DMDNM_004006.2(DMD): c.7189C> T (p.Gln2397Ter)SNVPathogenicrs398124042GRCh37Chr X, 31854846: 31854846
182DMDNM_004006.2(DMD): c.7309+1G> ASNVPathogenicrs398124044GRCh37Chr X, 31838091: 31838091
183DMDNM_004006.2(DMD): c.7657C> T (p.Arg2553Ter)SNVPathogenicrs398124050GRCh37Chr X, 31747751: 31747751
184DMDNM_004006.2(DMD): c.7682G> A (p.Trp2561Ter)SNVPathogenicrs398124052GRCh37Chr X, 31697682: 31697682
185DMDNM_004006.2(DMD): c.7683G> A (p.Trp2561Ter)SNVPathogenicrs398124053GRCh37Chr X, 31697681: 31697681
186DMDNM_004006.2(DMD): c.7894C> T (p.Gln2632Ter)SNVPathogenicrs398124058GRCh37Chr X, 31676240: 31676240
187DMDNM_004006.2(DMD): c.8064_8065delTA (p.His2688Glnfs)deletionPathogenicrs398124060GRCh37Chr X, 31645942: 31645943
188DMDNM_004006.2(DMD): c.8069T> G (p.Leu2690Ter)SNVPathogenicrs398124061GRCh37Chr X, 31645938: 31645938
189DMDNM_004006.2(DMD): c.8374_8375delAA (p.Lys2792Valfs)deletionPathogenicrs398124070GRCh37Chr X, 31525413: 31525414
190DMDNM_004006.2(DMD): c.8608C> T (p.Arg2870Ter)SNVPathogenicrs398124074GRCh37Chr X, 31497160: 31497160
191DMDNM_004006.2(DMD): c.8652_8653delCT (p.Tyr2885Profs)deletionPathogenicrs398124075GRCh37Chr X, 31497115: 31497116
192DMDNM_004006.2(DMD): c.8912_8913delTC (p.Leu2971Profs)deletionPathogenicrs398124078GRCh37Chr X, 31496247: 31496248
193DMDNM_004006.2(DMD): c.9125delA (p.His3042Profs)deletionPathogenicrs398124080GRCh37Chr X, 31366711: 31366711
194DMDNM_004006.2(DMD): c.9225-647A> GSNVPathogenicrs398124091GRCh37Chr X, 31279780: 31279780
195DMDNM_004006.2(DMD): c.9337C> T (p.Arg3113Ter)SNVPathogenicrs398124092GRCh37Chr X, 31241188: 31241188
196DMDNM_004006.2(DMD): c.9361+1G> ASNVPathogenicrs398124094GRCh37Chr X, 31241163: 31241163
197DMDNM_004006.2(DMD): c.9361+1G> CSNVPathogenicrs398124094GRCh37Chr X, 31241163: 31241163
198DMDNM_004006.2(DMD): c.9564-1G> ASNVPathogenicrs398124096GRCh37Chr X, 31224785: 31224785
199DMDNM_004006.2(DMD): c.9650-2A> GSNVPathogenicrs398124100GRCh37Chr X, 31222237: 31222237
200DMDNM_004006.2(DMD): c.9862G> T (p.Glu3288Ter)SNVPathogenicrs398124106GRCh37Chr X, 31200967: 31200967

Expression for genes affiliated with Myotonia Congenita, Recessive

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Search GEO for disease gene expression data for Myotonia Congenita, Recessive.

Pathways for genes affiliated with Myotonia Congenita, Recessive

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Pathways related to Myotonia Congenita, Recessive according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.5JAG1, PDGFRA

GO Terms for genes affiliated with Myotonia Congenita, Recessive

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Cellular components related to Myotonia Congenita, Recessive according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1sarcolemmaGO:00423839.8CLCN1, DMD

Biological processes related to Myotonia Congenita, Recessive according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1regulation of phosphatidylinositol 3-kinase signalingGO:00140669.2FGF9, PDGFRA
2phosphatidylinositol phosphorylationGO:00468548.9FGF9, PDGFRA

Molecular functions related to Myotonia Congenita, Recessive according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1phosphatidylinositol-4,5-bisphosphate 3-kinase activityGO:00469349.2FGF9, PDGFRA

Sources for Myotonia Congenita, Recessive

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet