MPD1
MCID: MYP125
MIFTS: 47

Myopathy, Distal, 1 (MPD1)

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

Aliases & Classifications for Myopathy, Distal, 1

MalaCards integrated aliases for Myopathy, Distal, 1:

Name: Myopathy, Distal, 1 58 76 30 6
Laing Distal Myopathy 58 12 25 54 26 76 38 13
Laing Early-Onset Distal Myopathy 12 25 54 26 60 76
Mpd1 58 12 26 60 76
Distal Myopathy 1 12 26 76 15
Distal Myopathy Type 1 12 60
Gowers Disease 12 60
Myopathy, Distal, Early-Onset, Autosomal Dominant 58
Myopathy Distal Early-Onset Autosomal Dominant 76
Myopathy, Late Distal Hereditary 58
Myopathy Late Distal Hereditary 76
Welander Distal Myopathy 74
Myopathy, Distal, Type 1 41
Myopathy Distal, Type 1 54

Characteristics:

Orphanet epidemiological data:

60
laing early-onset distal myopathy
Inheritance: Autosomal dominant; Age of onset: Childhood;

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
variable phenotype
slowly progressive
onset in infancy or childhood
later onset has been reported
allelic to myosin storage myopathy


HPO:

33

GeneReviews:

25
Penetrance Penetrance appears to be at least 85%...

Classifications:

Orphanet: 60  
Rare neurological diseases


Summaries for Myopathy, Distal, 1

NIH Rare Diseases : 54 Laing distal myopathy is a slowly progressive muscle disorder that tends to begin in childhood. Early symptoms include weakness in the feet and ankles, followed by weakness in the hands and wrists. Weakness in the feet leads to tightening of the Achilles tendon, an inability to lift the big toe, and a high-stepping walk. Weakness in the hands makes it more difficult to lift the fingers, especially the third and fourth fingers. As the muscle weakness slowly progresses over the course of many years, other muscles of the body (e.g., neck, face, legs, hips, and shoulders) weaken. Other findings include scoliosis and cardiomyopathy in up to one third of individuals. Most affected people remain mobile throughout life. Life expectancy is normal. Laing distal myopathy is caused by mutations in the MYH7 gene and is inherited in an autosomal dominant fashion. Treatment may include physiotherapy to prevent tightening of the Achilles tendon and splinting of the ankle. Annual neurologic examinations, evaluations for scoliosis, and regular assessments of cardiac and respiratory functions may be necessary. 

MalaCards based summary : Myopathy, Distal, 1, also known as laing distal myopathy, is related to miyoshi muscular dystrophy and muscle disorders, and has symptoms including myalgia An important gene associated with Myopathy, Distal, 1 is MYH7 (Myosin Heavy Chain 7), and among its related pathways/superpathways are ERK Signaling and Integrin Pathway. The drugs Silicon and Nutrients have been mentioned in the context of this disorder. Affiliated tissues include skeletal muscle, and related phenotypes are foot dorsiflexor weakness and toe extensor amyotrophy

Disease Ontology : 12 A distal muscular dystrophy characterized by autosomal dominant inheritance that has material basis in mutation in the MYH7 gene on chromosome 14q11.

Genetics Home Reference : 26 Laing distal myopathy is a condition that affects skeletal muscles, which are muscles that the body uses for movement. This disorder causes progressive muscle weakness that appears in childhood. The first sign of Laing distal myopathy is usually weakness in certain muscles in the feet and ankles. This weakness leads to tightening of the Achilles tendon (the band that connects the heel of the foot to the calf muscles), an inability to lift the first (big) toe, and a high-stepping walk. Months to years later, muscle weakness develops in the hands and wrists. Weakness in these muscles makes it difficult to lift the fingers, particularly the third and fourth fingers. Many affected people also experience hand tremors.

UniProtKB/Swiss-Prot : 76 Myopathy, distal, 1: A muscular disorder characterized by early-onset selective weakness of the great toe and ankle dorsiflexors, followed by weakness of the finger extensors. Mild proximal weakness occasionally develops years later after the onset of the disease.

Description from OMIM: 160500
GeneReviews: NBK1433

Related Diseases for Myopathy, Distal, 1

Graphical network of the top 20 diseases related to Myopathy, Distal, 1:



Diseases related to Myopathy, Distal, 1

Symptoms & Phenotypes for Myopathy, Distal, 1

Human phenotypes related to Myopathy, Distal, 1:

60 33 (show all 28)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 foot dorsiflexor weakness 60 33 hallmark (90%) Very frequent (99-80%) HP:0009027
2 toe extensor amyotrophy 60 33 hallmark (90%) Very frequent (99-80%) HP:0011916
3 high palate 60 33 frequent (33%) Frequent (79-30%) HP:0000218
4 gait disturbance 60 33 frequent (33%) Frequent (79-30%) HP:0001288
5 scoliosis 60 33 frequent (33%) Frequent (79-30%) HP:0002650
6 myalgia 60 33 frequent (33%) Frequent (79-30%) HP:0003326
7 type 1 muscle fiber predominance 60 33 frequent (33%) Frequent (79-30%) HP:0003803
8 abnormal mitochondria in muscle tissue 60 33 frequent (33%) Frequent (79-30%) HP:0008316
9 neck muscle weakness 60 33 frequent (33%) Frequent (79-30%) HP:0000467
10 progressive muscle weakness 60 33 frequent (33%) Frequent (79-30%) HP:0003323
11 distal muscle weakness 60 33 frequent (33%) Frequent (79-30%) HP:0002460
12 minicore myopathy 60 33 frequent (33%) Frequent (79-30%) HP:0003789
13 talipes cavus equinovarus 60 33 frequent (33%) Frequent (79-30%) HP:0004696
14 abnormality of the calf musculature 60 33 frequent (33%) Frequent (79-30%) HP:0001430
15 weakness of orbicularis oculi muscle 60 33 frequent (33%) Frequent (79-30%) HP:0012507
16 mildly elevated creatine kinase 33 frequent (33%) HP:0008180
17 dilated cardiomyopathy 60 33 occasional (7.5%) Occasional (29-5%) HP:0001644
18 emg: myopathic abnormalities 60 33 occasional (7.5%) Occasional (29-5%) HP:0003458
19 proximal muscle weakness in lower limbs 60 33 occasional (7.5%) Occasional (29-5%) HP:0008994
20 proximal muscle weakness 33 occasional (7.5%) HP:0003701
21 rimmed vacuoles 60 33 Excluded (0%) HP:0003805
22 facial palsy 33 HP:0010628
23 pes cavus 33 HP:0001761
24 ragged-red muscle fibers 33 HP:0003200
25 mildly elevated creatine phosphokinase 60 Frequent (79-30%)
26 amyotrophy of ankle musculature 33 HP:0009031
27 emg: neuropathic changes 33 HP:0003445
28 weakness of long finger extensor muscles 33 HP:0009077

Symptoms via clinical synopsis from OMIM:

58
Skeletal Spine:
scoliosis

Muscle Soft Tissue:
myalgia
ragged red fibers
type 1 fiber predominance
weakness of ankle and toe extensor (dorsiflexor) muscles
atrophy of ankle and toe extensor (dorsiflexor) muscles
more
Head And Neck Mouth:
high-arched palate

Cardiovascular Heart:
dilated cardiomyopathy may occur

Skeletal Feet:
pes cavus

Head And Neck Neck:
neck muscle weakness

Head And Neck Face:
facial muscle weakness, mild

Laboratory Abnormalities:
normal to mildly increased serum creatine kinase

Clinical features from OMIM:

160500

UMLS symptoms related to Myopathy, Distal, 1:


myalgia

Drugs & Therapeutics for Myopathy, Distal, 1

Drugs for Myopathy, Distal, 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Silicon Approved, Investigational Not Applicable 7440-21-3 4082203
2 Nutrients Not Applicable
3 Trace Elements Not Applicable
4 Micronutrients Not Applicable
5 Pharmaceutical Solutions Not Applicable

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Case Control Study of the Prevalence of Pulmonary Hypertension in Patients With Myeloproliferative Diseases. Unknown status NCT01884974
2 The Clinical and Subjective Performance of Three Different MPDS With Silicon Hydrogel Lenses Completed NCT01665612 Not Applicable

Search NIH Clinical Center for Myopathy, Distal, 1

Genetic Tests for Myopathy, Distal, 1

Genetic tests related to Myopathy, Distal, 1:

# Genetic test Affiliating Genes
1 Myopathy, Distal, 1 30

Anatomical Context for Myopathy, Distal, 1

MalaCards organs/tissues related to Myopathy, Distal, 1:

42
Skeletal Muscle

Publications for Myopathy, Distal, 1

Articles related to Myopathy, Distal, 1:

(show all 11)
# Title Authors Year
1
A novel MYH7 mutation resulting in Laing distal myopathy in a Chinese family. ( 30897599 )
2019
2
A novel MYH7 founder mutation causing Laing distal myopathy in Southern Spain. ( 30166250 )
2018
3
Laing distal myopathy with a novel mutation in exon 34 of the MYH7 gene. ( 27469267 )
2016
4
Two novel MYH7 proline substitutions cause Laing Distal Myopathy-like phenotypes with variable expressivity and neck extensor contracture. ( 27519903 )
2016
5
A novel MYH7 Leu1453pro mutation resulting in Laing distal myopathy in an Irish family. ( 25447691 )
2015
6
Laing distal myopathy pathologically resembling inclusion body myositis. ( 25574480 )
2014
7
Exome sequencing identifies Laing distal myopathy MYH7 mutation in a Roma family previously diagnosed with distal neuronopathy. ( 24300783 )
2013
8
A novel MYH7 mutation occurring independently in French and Norwegian Laing distal myopathy families and de novo in one Finnish patient. ( 21279644 )
2011
9
Clinical utility gene card for: Laing distal myopathy. ( 21150886 )
2011
10
MYH7 gene tail mutation causing myopathic profiles beyond Laing distal myopathy. ( 20733148 )
2010
11
Laing Distal Myopathy ( 20301606 )
1993

Variations for Myopathy, Distal, 1

UniProtKB/Swiss-Prot genetic disease variations for Myopathy, Distal, 1:

76
# Symbol AA change Variation ID SNP ID
1 MYH7 p.Arg1500Pro VAR_022369 rs121913647
2 MYH7 p.Ala1663Pro VAR_022370 rs797044601
3 MYH7 p.Leu1706Pro VAR_022371 rs797044602
4 MYH7 p.Thr441Met VAR_042785 rs121913653

ClinVar genetic disease variations for Myopathy, Distal, 1:

6 (show top 50) (show all 259)
# Gene Variation Type Significance SNP ID Assembly Location
1 MYH7 NM_000257.3(MYH7): c.5279C> T (p.Thr1760Met) single nucleotide variant Uncertain significance rs727505294 GRCh37 Chromosome 14, 23884594: 23884594
2 MYH7 NM_000257.3(MYH7): c.5279C> T (p.Thr1760Met) single nucleotide variant Uncertain significance rs727505294 GRCh38 Chromosome 14, 23415385: 23415385
3 MYH7 NM_000257.3(MYH7): c.5287G> A (p.Ala1763Thr) single nucleotide variant Uncertain significance rs727504355 GRCh38 Chromosome 14, 23415267: 23415267
4 MYH7 NM_000257.3(MYH7): c.5287G> A (p.Ala1763Thr) single nucleotide variant Uncertain significance rs727504355 GRCh37 Chromosome 14, 23884476: 23884476
5 MYH7 NM_000257.3(MYH7): c.3235C> T (p.Arg1079Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs192722540 GRCh37 Chromosome 14, 23891399: 23891399
6 MYH7 NM_000257.3(MYH7): c.3235C> T (p.Arg1079Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs192722540 GRCh38 Chromosome 14, 23422190: 23422190
7 MYH7 NM_000257.3(MYH7): c.2788G> C (p.Glu930Gln) single nucleotide variant Pathogenic/Likely pathogenic rs397516171 GRCh37 Chromosome 14, 23893250: 23893250
8 MYH7 NM_000257.3(MYH7): c.2788G> C (p.Glu930Gln) single nucleotide variant Pathogenic/Likely pathogenic rs397516171 GRCh38 Chromosome 14, 23424041: 23424041
9 MYH7 NM_000257.3(MYH7): c.2080C> T (p.Arg694Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs727504240 GRCh37 Chromosome 14, 23895255: 23895255
10 MYH7 NM_000257.3(MYH7): c.2080C> T (p.Arg694Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs727504240 GRCh38 Chromosome 14, 23426046: 23426046
11 MYH7 NM_000257.3(MYH7): c.5726G> A (p.Arg1909Gln) single nucleotide variant Uncertain significance rs397516253 GRCh37 Chromosome 14, 23883032: 23883032
12 MYH7 NM_000257.3(MYH7): c.5726G> A (p.Arg1909Gln) single nucleotide variant Uncertain significance rs397516253 GRCh38 Chromosome 14, 23413823: 23413823
13 MYH7 NM_000257.3(MYH7): c.5606A> G (p.Asp1869Gly) single nucleotide variant Uncertain significance rs730880824 GRCh38 Chromosome 14, 23414056: 23414056
14 MYH7 NM_000257.3(MYH7): c.5606A> G (p.Asp1869Gly) single nucleotide variant Uncertain significance rs730880824 GRCh37 Chromosome 14, 23883265: 23883265
15 MYH7 NM_000257.3(MYH7): c.2526T> C (p.Ser842=) single nucleotide variant Benign/Likely benign rs554560162 GRCh38 Chromosome 14, 23424922: 23424922
16 MYH7 NM_000257.3(MYH7): c.2526T> C (p.Ser842=) single nucleotide variant Benign/Likely benign rs554560162 GRCh37 Chromosome 14, 23894131: 23894131
17 MYH7 NM_000257.3(MYH7): c.745C> G (p.Arg249Gly) single nucleotide variant Uncertain significance rs730880852 GRCh37 Chromosome 14, 23900678: 23900678
18 MYH7 NM_000257.3(MYH7): c.745C> G (p.Arg249Gly) single nucleotide variant Uncertain significance rs730880852 GRCh38 Chromosome 14, 23431469: 23431469
19 MYH7 NM_000257.3(MYH7): c.153C> T (p.Ile51=) single nucleotide variant Benign/Likely benign rs373145667 GRCh37 Chromosome 14, 23902789: 23902789
20 MYH7 NM_000257.3(MYH7): c.153C> T (p.Ile51=) single nucleotide variant Benign/Likely benign rs373145667 GRCh38 Chromosome 14, 23433580: 23433580
21 MYH7 NM_000257.3(MYH7): c.*20G> A single nucleotide variant Benign/Likely benign rs45548631 GRCh38 Chromosome 14, 23412834: 23412834
22 MYH7 NM_000257.3(MYH7): c.*20G> A single nucleotide variant Benign/Likely benign rs45548631 GRCh37 Chromosome 14, 23882043: 23882043
23 MYH7 NM_000257.4(MYH7): c.3770A> G (p.Asn1257Ser) single nucleotide variant Benign rs574005462 GRCh37 Chromosome 14, 23888775: 23888775
24 MYH7 NM_000257.4(MYH7): c.3770A> G (p.Asn1257Ser) single nucleotide variant Benign rs574005462 GRCh38 Chromosome 14, 23419566: 23419566
25 MYH7 NM_000257.3(MYH7): c.5566G> A (p.Glu1856Lys) single nucleotide variant Pathogenic rs797044598 GRCh37 Chromosome 14, 23883305: 23883305
26 MYH7 NM_000257.3(MYH7): c.5566G> A (p.Glu1856Lys) single nucleotide variant Pathogenic rs797044598 GRCh38 Chromosome 14, 23414096: 23414096
27 MYH7 NM_000257.3(MYH7): c.5117T> C (p.Leu1706Pro) single nucleotide variant Pathogenic rs797044602 GRCh37 Chromosome 14, 23884878: 23884878
28 MYH7 NM_000257.3(MYH7): c.5117T> C (p.Leu1706Pro) single nucleotide variant Pathogenic rs797044602 GRCh38 Chromosome 14, 23415669: 23415669
29 MYH7 NM_000257.3(MYH7): c.4987G> C (p.Ala1663Pro) single nucleotide variant Pathogenic rs797044601 GRCh38 Chromosome 14, 23415799: 23415799
30 MYH7 NM_000257.3(MYH7): c.4987G> C (p.Ala1663Pro) single nucleotide variant Pathogenic rs797044601 GRCh37 Chromosome 14, 23885008: 23885008
31 MYH7 NM_000257.3(MYH7): c.4850_4852delAGA (p.Lys1617del) deletion Pathogenic rs121913648 GRCh37 Chromosome 14, 23885314: 23885316
32 MYH7 NM_000257.3(MYH7): c.4850_4852delAGA (p.Lys1617del) deletion Pathogenic rs121913648 GRCh38 Chromosome 14, 23416105: 23416107
33 MYH7 NM_000257.3(MYH7): c.4807G> C (p.Ala1603Pro) single nucleotide variant Likely pathogenic rs730880809 GRCh37 Chromosome 14, 23885359: 23885359
34 MYH7 NM_000257.3(MYH7): c.4807G> C (p.Ala1603Pro) single nucleotide variant Likely pathogenic rs730880809 GRCh38 Chromosome 14, 23416150: 23416150
35 MYH7 NM_000257.3(MYH7): c.4772T> C (p.Leu1591Pro) single nucleotide variant Likely pathogenic rs730880808 GRCh38 Chromosome 14, 23416185: 23416185
36 MYH7 NM_000257.3(MYH7): c.4772T> C (p.Leu1591Pro) single nucleotide variant Likely pathogenic rs730880808 GRCh37 Chromosome 14, 23885394: 23885394
37 MYH7 NM_000257.3(MYH7): c.4763G> C (p.Arg1588Pro) single nucleotide variant Pathogenic rs797044600 GRCh38 Chromosome 14, 23416194: 23416194
38 MYH7 NM_000257.3(MYH7): c.4763G> C (p.Arg1588Pro) single nucleotide variant Pathogenic rs797044600 GRCh37 Chromosome 14, 23885403: 23885403
39 MYH7 NM_000257.3(MYH7): c.4315G> C (p.Ala1439Pro) single nucleotide variant Pathogenic rs797044599 GRCh37 Chromosome 14, 23886750: 23886750
40 MYH7 NM_000257.3(MYH7): c.4315G> C (p.Ala1439Pro) single nucleotide variant Pathogenic rs797044599 GRCh38 Chromosome 14, 23417541: 23417541
41 MYH7 NM_000257.3(MYH7): c.4321G> T (p.Ala1441Ser) single nucleotide variant Uncertain significance rs745414245 GRCh38 Chromosome 14, 23417535: 23417535
42 MYH7 NM_000257.3(MYH7): c.4321G> T (p.Ala1441Ser) single nucleotide variant Uncertain significance rs745414245 GRCh37 Chromosome 14, 23886744: 23886744
43 MYH7 NM_000257.3(MYH7): c.1544T> C (p.Met515Thr) single nucleotide variant Likely pathogenic rs863224900 GRCh37 Chromosome 14, 23897743: 23897743
44 MYH7 NM_000257.3(MYH7): c.1544T> C (p.Met515Thr) single nucleotide variant Likely pathogenic rs863224900 GRCh38 Chromosome 14, 23428534: 23428534
45 MYH7 NM_000257.4(MYH7): c.1207C> T (p.Arg403Trp) single nucleotide variant Pathogenic rs3218714 GRCh37 Chromosome 14, 23898488: 23898488
46 MYH7 NM_000257.4(MYH7): c.1207C> T (p.Arg403Trp) single nucleotide variant Pathogenic rs3218714 GRCh38 Chromosome 14, 23429279: 23429279
47 MYH7 NM_000257.3(MYH7): c.4499G> C (p.Arg1500Pro) single nucleotide variant Pathogenic rs121913647 GRCh37 Chromosome 14, 23886382: 23886382
48 MYH7 NM_000257.3(MYH7): c.4499G> C (p.Arg1500Pro) single nucleotide variant Pathogenic rs121913647 GRCh38 Chromosome 14, 23417173: 23417173
49 MYH7 NM_000257.3(MYH7): c.1322C> T (p.Thr441Met) single nucleotide variant Conflicting interpretations of pathogenicity rs121913653 GRCh37 Chromosome 14, 23898249: 23898249
50 MYH7 NM_000257.3(MYH7): c.1322C> T (p.Thr441Met) single nucleotide variant Conflicting interpretations of pathogenicity rs121913653 GRCh38 Chromosome 14, 23429040: 23429040

Expression for Myopathy, Distal, 1

Search GEO for disease gene expression data for Myopathy, Distal, 1.

Pathways for Myopathy, Distal, 1

Pathways related to Myopathy, Distal, 1 according to GeneCards Suite gene sharing:

(show all 19)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.43 MYH2 MYH3 MYH6 MYH7 MYH8
2
Show member pathways
13.08 MYH2 MYH3 MYH6 MYH7 MYH8
3
Show member pathways
13.04 MYH2 MYH3 MYH6 MYH7 MYH8
4
Show member pathways
12.99 MYH2 MYH3 MYH6 MYH7 MYH8
5
Show member pathways
12.76 MYH2 MYH3 MYH6 MYH7 MYH8
6
Show member pathways
12.75 MYH2 MYH3 MYH6 MYH7 MYH8
7
Show member pathways
12.69 MYH2 MYH3 MYH6 MYH7 MYH8
8
Show member pathways
12.62 MYH2 MYH3 MYH6 MYH7 MYH8
9
Show member pathways
12.49 MYH3 MYH6 MYH8
10
Show member pathways
12.32 MYH2 MYH3 MYH6 MYH7 MYH8
11
Show member pathways
12.1 MYH2 MYH3 MYH6 MYH7 MYH8
12
Show member pathways
12 MYH2 MYH3 MYH6 MYH7 MYH8
13 11.96 MYH2 MYH3 MYH8
14
Show member pathways
11.91 MYH2 MYH3 MYH6 MYH7 MYH8
15 11.54 MYH3 MYH6 MYH8
16 11.47 MYH6 MYH7
17 11.1 MYH2 MYH3 MYH6 MYH7 MYH8
18 10.81 MYH2 MYH3 MYH6 MYH7 MYH8
19 10.5 MYH2 MYH3 MYH6 MYH7 MYH8

GO Terms for Myopathy, Distal, 1

Cellular components related to Myopathy, Distal, 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 sarcomere GO:0030017 9.72 MYH2 MYH3 MYH6 MYH7 MYH8
2 myosin complex GO:0016459 9.65 MYH2 MYH3 MYH6 MYH7 MYH8
3 myofibril GO:0030016 9.55 MYH2 MYH3 MYH6 MYH7 MYH8
4 Z disc GO:0030018 9.4 MYH6 MYH7
5 stress fiber GO:0001725 9.37 MYH6 MYH7
6 myosin filament GO:0032982 9.35 MYH2 MYH3 MYH6 MYH7 MYH8
7 muscle myosin complex GO:0005859 9.02 MYH2 MYH3 MYH6 MYH7 MYH8

Biological processes related to Myopathy, Distal, 1 according to GeneCards Suite gene sharing:

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 protein dephosphorylation GO:0006470 9.61 MYH3 MYH6 MYH8
2 cardiac muscle contraction GO:0060048 9.54 MYH6 MYH7
3 sarcomere organization GO:0045214 9.52 MYH3 MYH6
4 regulation of heart rate GO:0002027 9.51 MYH6 MYH7
5 ventricular cardiac muscle tissue morphogenesis GO:0055010 9.49 MYH6 MYH7
6 actin filament-based movement GO:0030048 9.48 MYH3 MYH6
7 regulation of the force of heart contraction GO:0002026 9.46 MYH6 MYH7
8 muscle contraction GO:0006936 9.46 MYH2 MYH6 MYH7 MYH8
9 skeletal muscle contraction GO:0003009 9.43 MYH3 MYH7 MYH8
10 striated muscle contraction GO:0006941 9.4 MYH6 MYH7
11 adult heart development GO:0007512 9.37 MYH6 MYH7
12 cardiac muscle hypertrophy in response to stress GO:0014898 9.32 MYH6 MYH7
13 ATP metabolic process GO:0046034 9.26 MYH3 MYH6 MYH7 MYH8
14 muscle filament sliding GO:0030049 9.02 MYH2 MYH3 MYH6 MYH7 MYH8

Molecular functions related to Myopathy, Distal, 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ATP binding GO:0005524 9.85 MYH2 MYH3 MYH6 MYH7 MYH8
2 nucleotide binding GO:0000166 9.8 MYH2 MYH3 MYH6 MYH7 MYH8
3 actin binding GO:0003779 9.77 MYH2 MYH3 MYH6 MYH7 MYH8
4 actin filament binding GO:0051015 9.72 MYH2 MYH3 MYH6 MYH7 MYH8
5 ATPase activity GO:0016887 9.65 MYH6 MYH7 MYH8
6 calmodulin binding GO:0005516 9.65 MYH2 MYH3 MYH6 MYH7 MYH8
7 actin-dependent ATPase activity GO:0030898 9.43 MYH6 MYH7
8 motor activity GO:0003774 9.35 MYH2 MYH3 MYH6 MYH7 MYH8
9 myosin phosphatase activity GO:0017018 9.33 MYH3 MYH6 MYH8
10 microfilament motor activity GO:0000146 9.02 MYH2 MYH3 MYH6 MYH7 MYH8

Sources for Myopathy, Distal, 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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