CAPM1
MCID: NML002
MIFTS: 50

Nemaline Myopathy 1 (CAPM1)

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

Aliases & Classifications for Nemaline Myopathy 1

MalaCards integrated aliases for Nemaline Myopathy 1:

Name: Nemaline Myopathy 1 58 12 76 30 6 15 74
Cap Myopathy 1 58 76 30 6 74
Nem1 58 12 76
Nemaline Myopathy 1, Autosomal Dominant or Recessive 58 12
Nemaline Myopathy 1 Autosomal Dominant or Recessive 76
Myopathy, Nemaline, Type 1 41
Nemaline Myopathy, Type 1 77
Cap Myopathy Tpm3-Related 76
Cap Myopathy 74
Cap Disease 76
Capm1 76

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive
autosomal dominant

Miscellaneous:
genetic heterogeneity (see )
onset in childhood (range infancy to 10 years)
variable clinical severity
autosomal recessive disorder tends to be more severe


HPO:

33
nemaline myopathy 1:
Inheritance heterogeneous autosomal dominant inheritance autosomal recessive inheritance
Onset and clinical course juvenile onset


Classifications:



Summaries for Nemaline Myopathy 1

UniProtKB/Swiss-Prot : 76 Cap myopathy 1: A rare congenital skeletal muscle disorder characterized by the presence of cap-like structures which are well demarcated and peripherally located under the sarcolemma and show abnormal accumulation of sarcomeric proteins. Clinical features are early onset of hypotonia and slowly progressive muscle weakness. Respiratory problems are common. Nemaline myopathy 1: A form of nemaline myopathy with autosomal dominant or recessive inheritance. Nemaline myopathies are disorders characterized by muscle weakness of varying onset and severity, and abnormal thread-like or rod-shaped structures in muscle fibers on histologic examination. Autosomal dominant NEM1 is characterized by a moderate phenotype with onset between birth and early second decade of life. Weakness is diffuse and symmetric with slow progression often with need for a wheelchair in adulthood. The autosomal recessive form has onset at birth with moderate to severe hypotonia and diffuse weakness. In the most severe cases, death can occur before 2 years. Less severe cases have delayed major motor milestones, and these patients may walk, but often need a wheelchair before 10 years.

MalaCards based summary : Nemaline Myopathy 1, also known as cap myopathy 1, is related to nemaline myopathy 4 and cap myopathy. An important gene associated with Nemaline Myopathy 1 is TPM3 (Tropomyosin 3), and among its related pathways/superpathways are Cellular Senescence (REACTOME) and Autophagy Pathway. Affiliated tissues include skeletal muscle, bone and pituitary, and related phenotypes are pectus excavatum and high palate

Disease Ontology : 12 A nemaline myopathy characterized by onset typically in early childhood of mildly delayed motor development, hypotonia, generalized muscle weakness, and weakness of the proximal limb muscles and neck muscles, resulting in difficulty running and easy fatigability that has material basis in heterozygous, homozygous, or compound heterozygous mutation in the TPM3 gene on chromosome 1q21.

OMIM : 58 Nemaline myopathy-1 is a disorder characterized by muscle weakness, usually beginning in early childhood. The severity and pattern of muscle weakness varies, but most affected individuals show mildly delayed motor development, hypotonia, generalized muscle weakness, and weakness of the proximal limb muscles and neck muscles, resulting in difficulty running and easy fatigability. Most patients have respiratory insufficiency due to muscle weakness. Other common features include myopathic facies, high-arched palate, and scoliosis. Histologic findings on skeletal muscle biopsy are variable, even in patients with the same mutation. Muscle fibers can contain nemaline rod inclusions, or so-called subsarcolemmal 'cap' structures, as well as show overall fiber-type disproportion. It has been suggested that unknown modifying factors confer a tendency to one or another pattern of inclusions on skeletal muscle biopsy in those with TPM3 mutations (summary by Waddell et al., 2010 and Malfatti et al., 2013). For a discussion of genetic heterogeneity of nemaline myopathy, see 161800. (609284)

Wikipedia : 77 Nemaline myopathy (also called rod myopathy or nemaline rod myopathy) is a congenital, hereditary... more...

Related Diseases for Nemaline Myopathy 1

Diseases in the Nemaline Myopathy family:

Nemaline Myopathy 3 Nemaline Myopathy 2
Nemaline Myopathy 5 Nemaline Myopathy 6
Nemaline Myopathy 1 Nemaline Myopathy 4
Nemaline Myopathy 7 Nemaline Myopathy 8
Nemaline Myopathy 9 Nemaline Myopathy 10
Nemaline Myopathy 11, Autosomal Recessive Adult-Onset Nemaline Myopathy
Intermediate Congenital Nemaline Myopathy Severe Congenital Nemaline Myopathy

Diseases related to Nemaline Myopathy 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 28)
# Related Disease Score Top Affiliating Genes
1 nemaline myopathy 4 32.5 CDKN1B MEN1
2 cap myopathy 11.7
3 intermediate congenital nemaline myopathy 10.4 NEB TPM3
4 childhood-onset nemaline myopathy 10.4 NEB TPM3
5 pediatric fibrosarcoma 10.2 NTRK1 TPM3
6 nemaline myopathy 10.1
7 myopathy 10.1
8 pancreatic somatostatinoma 10.1 MEN1 PPY
9 askin's tumor 10.1 NGF NTRK1
10 prolactin producing pituitary tumor 10.1 NGF NTRK1
11 hypervitaminosis a 10.1 CDKN1B MGAM
12 autonomic nervous system benign neoplasm 10.0 CHGA NTRK1
13 multiple endocrine neoplasia 10.0 CDKN1B CHGA MEN1
14 multiple endocrine neoplasia, type i 10.0 CDKN1B CHGA MEN1
15 primary hyperparathyroidism 10.0 CDKN1B CHGA MEN1
16 hyperparathyroidism 10.0 CDKN1B CHGA MEN1
17 thyroid carcinoma, familial medullary 10.0 CHGA MEN1 NTRK1
18 endocrine organ benign neoplasm 10.0 CHGA MEN1 NGF
19 duodenal gastrinoma 10.0 CHGA MEN1 PPY
20 causalgia 10.0 MGAM NGF NTRK1
21 gastrointestinal system benign neoplasm 10.0 CHGA MEN1 PPY
22 conjunctival nevus 9.9 NGF NTRK1
23 congenital fiber-type disproportion 9.9
24 neuropathy, hereditary sensory and autonomic, type v 9.8 NGF NTRK1
25 pheochromocytoma 9.7 CHGA MEN1 NGF NTRK1
26 amyotrophic lateral sclerosis type 14 9.7 GABARAPL1 GABARAPL2
27 myopathy, congenital 9.7
28 muscle disorders 9.7

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



Diseases related to Nemaline Myopathy 1

Symptoms & Phenotypes for Nemaline Myopathy 1

Human phenotypes related to Nemaline Myopathy 1:

33 (show all 19)
# Description HPO Frequency HPO Source Accession
1 pectus excavatum 33 HP:0000767
2 high palate 33 HP:0000218
3 dysphagia 33 HP:0002015
4 respiratory insufficiency 33 HP:0002093
5 scoliosis 33 HP:0002650
6 flexion contracture 33 HP:0001371
7 generalized muscle weakness 33 HP:0003324
8 pes cavus 33 HP:0001761
9 emg: myopathic abnormalities 33 HP:0003458
10 motor delay 33 HP:0001270
11 nemaline bodies 33 HP:0003798
12 narrow face 33 HP:0000275
13 long face 33 HP:0000276
14 proximal muscle weakness 33 HP:0003701
15 facial diplegia 33 HP:0001349
16 neck muscle weakness 33 HP:0000467
17 distal lower limb muscle weakness 33 HP:0009053
18 distal lower limb amyotrophy 33 HP:0008944
19 shoulder girdle muscle atrophy 33 HP:0003724

Symptoms via clinical synopsis from OMIM:

58
Abdomen Gastrointestinal:
dysphagia

Skeletal Spine:
scoliosis

Head And Neck Face:
narrow face
long face
facial diplegia

Head And Neck Neck:
neck muscle weakness

Skeletal:
joint contractures

Respiratory:
respiratory insufficiency
restricted vital capacity

Skeletal Feet:
pes cavus

Muscle Soft Tissue:
facial diplegia
muscle weakness, proximal
emg shows myopathic changes
muscle weakness, lower limb, distal
muscle atrophy, lower limb, distal
more
Head And Neck Mouth:
high-arched palate

Neurologic Central Nervous System:
delayed motor development due to muscle weakness

Clinical features from OMIM:

609284

MGI Mouse Phenotypes related to Nemaline Myopathy 1:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.1 ATG7 CDKN1B CHGA CSNK2A1 HGS LPIN1
2 behavior/neurological MP:0005386 10.07 ATG7 CDKN1B HGS LPIN1 LPIN3 NEB
3 homeostasis/metabolism MP:0005376 10 ATG7 CDKN1B CHGA CSNK2A1 LPIN1 MEN1
4 mortality/aging MP:0010768 10 ATG7 CDKN1B CHGA CSNK2A1 GABARAPL2 HGS
5 muscle MP:0005369 9.7 ATG7 CDKN1B CHGA CSNK2A1 HGS LPIN1
6 nervous system MP:0003631 9.36 ATG7 CDKN1B CHGA CSNK2A1 HGS LPIN1

Drugs & Therapeutics for Nemaline Myopathy 1

Search Clinical Trials , NIH Clinical Center for Nemaline Myopathy 1

Genetic Tests for Nemaline Myopathy 1

Genetic tests related to Nemaline Myopathy 1:

# Genetic test Affiliating Genes
1 Nemaline Myopathy 1 30 TPM3
2 Cap Myopathy 1 30

Anatomical Context for Nemaline Myopathy 1

MalaCards organs/tissues related to Nemaline Myopathy 1:

42
Skeletal Muscle, Bone, Pituitary, Thyroid

Publications for Nemaline Myopathy 1

Articles related to Nemaline Myopathy 1:

(show all 22)
# Title Authors Year
1
Dominantly inherited distal nemaline/cap myopathy caused by a large deletion in the nebulin gene. ( 30679003 )
2019
2
Recessive MYPN mutations cause cap myopathy with occasional nemaline rods. ( 28220527 )
2017
3
TPM3 deletions cause a hypercontractile congenital muscle stiffness phenotype. ( 26418456 )
2015
4
Novel TPM3 mutation in a family with cap myopathy and review of the literature. ( 24239060 )
2014
5
The role of ultrasound in fetal congenital myopathy detection: a novel case of fetal-onset cap myopathy. ( 23804214 )
2013
6
Combined cap disease and nemaline myopathy in the same patient caused by an autosomal dominant mutation in the TPM3 gene. ( 24095155 )
2013
7
Abnormal actin binding of aberrant β-tropomyosins is a molecular cause of muscle weakness in TPM2-related nemaline and cap myopathy. ( 22084935 )
2012
8
Clinical utility gene card for: nemaline myopathy. ( 22510848 )
2012
9
Cap myopathy caused by a mutation of the skeletal alpha-actin gene ACTA1. ( 20303757 )
2010
10
Evidence for a dominant negative disease mechanism in cap myopathy due to TPM3. ( 20554445 )
2010
11
A TPM3 mutation causing cap myopathy. ( 19553118 )
2009
12
TPM3 mutation in one of the original cases of cap disease. ( 19487656 )
2009
13
Mutations in TPM3 are a common cause of congenital fiber type disproportion. ( 18300303 )
2008
14
Identification of a founder mutation in TPM3 in nemaline myopathy patients of Turkish origin. ( 18382475 )
2008
15
A second pedigree with autosomal dominant nemaline myopathy caused by TPM3 mutation: a clinical and pathological study. ( 17376686 )
2007
16
An alphaTropomyosin mutation alters dimer preference in nemaline myopathy. ( 15562513 )
2005
17
Mutations of the slow muscle alpha-tropomyosin gene, TPM3, are a rare cause of nemaline myopathy. ( 12196661 )
2002
18
"Cap disease"--a failure in the correct muscle fibre formation. ( 12163190 )
2002
19
A nemaline myopathy mutation in alpha-tropomyosin causes defective regulation of striated muscle force production. ( 10587521 )
1999
20
Homozygosity for a nonsense mutation in the alpha-tropomyosin slow gene TPM3 in a patient with severe infantile nemaline myopathy. ( 10619715 )
1999
21
A mutation in the alpha tropomyosin gene TPM3 associated with autosomal dominant nemaline myopathy. ( 7704029 )
1995
22
[Congenital myopathy with selective hypotrophy of type I fibers]. ( 1221488 )
1975

Variations for Nemaline Myopathy 1

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

76
# Symbol AA change Variation ID SNP ID
1 TPM3 p.Met9Arg VAR_013460 rs80358247
2 TPM3 p.Arg168Cys VAR_070067 rs121964854
3 TPM3 p.Arg168His VAR_070069 rs121964852
4 TPM3 p.Ser88Phe VAR_071500
5 TPM3 p.Leu149Ile VAR_071504
6 TPM3 p.Glu151Ala VAR_071505
7 TPM3 p.Arg245Ile VAR_071508 rs797046047

ClinVar genetic disease variations for Nemaline Myopathy 1:

6 (show all 48)
# Gene Variation Type Significance SNP ID Assembly Location
1 TPM3 NM_152263.3(TPM3): c.26T> G (p.Met9Arg) single nucleotide variant Pathogenic rs80358247 GRCh37 Chromosome 1, 154164469: 154164469
2 TPM3 NM_152263.3(TPM3): c.26T> G (p.Met9Arg) single nucleotide variant Pathogenic rs80358247 GRCh38 Chromosome 1, 154191993: 154191993
3 TPM3 NM_152263.3(TPM3): c.857A> C (p.Ter286Ser) single nucleotide variant Uncertain significance rs199474720 GRCh37 Chromosome 1, 154140414: 154140414
4 TPM3 NM_152263.3(TPM3): c.857A> C (p.Ter286Ser) single nucleotide variant Uncertain significance rs199474720 GRCh38 Chromosome 1, 154167938: 154167938
5 TPM3 NM_152263.3(TPM3): c.855-1G> A single nucleotide variant Uncertain significance rs113605263 GRCh37 Chromosome 1, 154140417: 154140417
6 TPM3 NM_152263.3(TPM3): c.855-1G> A single nucleotide variant Uncertain significance rs113605263 GRCh38 Chromosome 1, 154167941: 154167941
7 TPM3 NM_152263.3(TPM3): c.94C> T (p.Gln32Ter) single nucleotide variant Pathogenic rs80358248 GRCh37 Chromosome 1, 154164401: 154164401
8 TPM3 NM_152263.3(TPM3): c.94C> T (p.Gln32Ter) single nucleotide variant Pathogenic rs80358248 GRCh38 Chromosome 1, 154191925: 154191925
9 TPM3 NM_152263.3(TPM3): c.503G> A (p.Arg168His) single nucleotide variant Pathogenic rs121964852 GRCh37 Chromosome 1, 154145447: 154145447
10 TPM3 NM_152263.3(TPM3): c.503G> A (p.Arg168His) single nucleotide variant Pathogenic rs121964852 GRCh38 Chromosome 1, 154172971: 154172971
11 TPM3 NM_152263.3(TPM3): c.855delA (p.Ter286Asnfs) deletion Pathogenic rs199474719 GRCh37 Chromosome 1, 154140416: 154140416
12 TPM3 NM_152263.3(TPM3): c.855delA (p.Ter286Asnfs) deletion Pathogenic rs199474719 GRCh38 Chromosome 1, 154167940: 154167940
13 TPM3 NM_152263.2(TPM3): c.502C> G (p.Arg168Gly) single nucleotide variant Pathogenic/Likely pathogenic rs121964854 GRCh37 Chromosome 1, 154145448: 154145448
14 TPM3 NM_152263.2(TPM3): c.502C> G (p.Arg168Gly) single nucleotide variant Pathogenic/Likely pathogenic rs121964854 GRCh38 Chromosome 1, 154172972: 154172972
15 TPM3 NM_152263.3(TPM3): c.502C> T (p.Arg168Cys) single nucleotide variant Pathogenic rs121964854 GRCh37 Chromosome 1, 154145448: 154145448
16 TPM3 NM_152263.3(TPM3): c.502C> T (p.Arg168Cys) single nucleotide variant Pathogenic rs121964854 GRCh38 Chromosome 1, 154172972: 154172972
17 TPM3 NM_152263.3(TPM3): c.92A> C (p.Lys31Thr) single nucleotide variant Benign/Likely benign rs62000429 GRCh37 Chromosome 1, 154164403: 154164403
18 TPM3 NM_152263.3(TPM3): c.92A> C (p.Lys31Thr) single nucleotide variant Benign/Likely benign rs62000429 GRCh38 Chromosome 1, 154191927: 154191927
19 TPM3 NM_152263.3(TPM3): c.673_675delGAA (p.Glu225del) deletion Pathogenic rs876661406 GRCh37 Chromosome 1, 154143155: 154143157
20 TPM3 NM_152263.3(TPM3): c.673_675delGAA (p.Glu225del) deletion Pathogenic rs876661406 GRCh38 Chromosome 1, 154170679: 154170681
21 TPM3 NM_152263.3(TPM3): c.657_659delAGA (p.Glu219del) deletion Pathogenic rs876661407 GRCh37 Chromosome 1, 154143171: 154143173
22 TPM3 NM_152263.3(TPM3): c.657_659delAGA (p.Glu219del) deletion Pathogenic rs876661407 GRCh38 Chromosome 1, 154170695: 154170697
23 TPM3 NM_152263.3(TPM3): c.788C> G (p.Ala263Gly) single nucleotide variant Uncertain significance rs1455676920 GRCh37 Chromosome 1, 154141847: 154141847
24 TPM3 NM_152263.3(TPM3): c.788C> G (p.Ala263Gly) single nucleotide variant Uncertain significance rs1455676920 GRCh38 Chromosome 1, 154169371: 154169371
25 TPM3 NM_152263.3(TPM3): c.65G> A (p.Arg22Gln) single nucleotide variant Uncertain significance rs1553251640 GRCh37 Chromosome 1, 154164430: 154164430
26 TPM3 NM_152263.3(TPM3): c.65G> A (p.Arg22Gln) single nucleotide variant Uncertain significance rs1553251640 GRCh38 Chromosome 1, 154191954: 154191954
27 TPM3 NM_152263.3(TPM3): c.758C> A (p.Thr253Lys) single nucleotide variant Pathogenic rs1553248515 GRCh37 Chromosome 1, 154142893: 154142893
28 TPM3 NM_152263.3(TPM3): c.758C> A (p.Thr253Lys) single nucleotide variant Pathogenic rs1553248515 GRCh38 Chromosome 1, 154170417: 154170417
29 TPM3 NM_152263.3(TPM3): c.760A> G (p.Ile254Val) single nucleotide variant Uncertain significance rs1553248513 GRCh38 Chromosome 1, 154170415: 154170415
30 TPM3 NM_152263.3(TPM3): c.760A> G (p.Ile254Val) single nucleotide variant Uncertain significance rs1553248513 GRCh37 Chromosome 1, 154142891: 154142891
31 TPM3 NM_152263.3(TPM3): c.144G> A (p.Gln48=) single nucleotide variant Likely benign rs765923858 GRCh37 Chromosome 1, 154163761: 154163761
32 TPM3 NM_152263.3(TPM3): c.144G> A (p.Gln48=) single nucleotide variant Likely benign rs765923858 GRCh38 Chromosome 1, 154191285: 154191285
33 TPM3 NM_152263.3(TPM3): c.737C> T (p.Ser246Leu) single nucleotide variant Uncertain significance rs1553248522 GRCh38 Chromosome 1, 154170438: 154170438
34 TPM3 NM_152263.3(TPM3): c.737C> T (p.Ser246Leu) single nucleotide variant Uncertain significance rs1553248522 GRCh37 Chromosome 1, 154142914: 154142914
35 TPM3 NM_152263.3(TPM3): c.706-9T> A single nucleotide variant Likely benign rs931328025 GRCh38 Chromosome 1, 154170478: 154170478
36 TPM3 NM_152263.3(TPM3): c.706-9T> A single nucleotide variant Likely benign rs931328025 GRCh37 Chromosome 1, 154142954: 154142954
37 TPM3 NM_152263.3(TPM3): c.483G> A (p.Arg161=) single nucleotide variant Likely benign rs150586027 GRCh38 Chromosome 1, 154173096: 154173096
38 TPM3 NM_152263.3(TPM3): c.483G> A (p.Arg161=) single nucleotide variant Likely benign rs150586027 GRCh37 Chromosome 1, 154145572: 154145572
39 TPM3 NM_152263.3(TPM3): c.298C> G (p.Leu100Val) single nucleotide variant Likely pathogenic rs121964853 GRCh38 Chromosome 1, 154176194: 154176194
40 TPM3 NM_152263.3(TPM3): c.298C> G (p.Leu100Val) single nucleotide variant Likely pathogenic rs121964853 GRCh37 Chromosome 1, 154148670: 154148670
41 TPM3 NM_152263.3(TPM3): c.262T> C (p.Ser88Pro) single nucleotide variant Uncertain significance GRCh37 Chromosome 1, 154148706: 154148706
42 TPM3 NM_152263.3(TPM3): c.262T> C (p.Ser88Pro) single nucleotide variant Uncertain significance GRCh38 Chromosome 1, 154176230: 154176230
43 TPM3 NC_000001.11: g.(?_154191166)_(154192038_?)del deletion Uncertain significance GRCh37 Chromosome 1, 154163642: 154164514
44 TPM3 NC_000001.11: g.(?_154191166)_(154192038_?)del deletion Uncertain significance GRCh38 Chromosome 1, 154191166: 154192038
45 TPM3 NM_152263.3(TPM3): c.567-4A> C single nucleotide variant Uncertain significance GRCh37 Chromosome 1, 154143968: 154143968
46 TPM3 NM_152263.3(TPM3): c.567-4A> C single nucleotide variant Uncertain significance GRCh38 Chromosome 1, 154171492: 154171492
47 TPM3 NM_001043353.1(TPM3): c.218C> T (p.Ala73Val) single nucleotide variant Uncertain significance GRCh37 Chromosome 1, 154148639: 154148639
48 TPM3 NM_001043353.1(TPM3): c.218C> T (p.Ala73Val) single nucleotide variant Uncertain significance GRCh38 Chromosome 1, 154176163: 154176163

Expression for Nemaline Myopathy 1

Search GEO for disease gene expression data for Nemaline Myopathy 1.

Pathways for Nemaline Myopathy 1

GO Terms for Nemaline Myopathy 1

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

# Name GO ID Score Top Affiliating Genes
1 cytosol GO:0005829 9.47 ATG7 CDKN1B CSNK2A1 GABARAPL1 GABARAPL2 HGS
2 cytoplasmic vesicle GO:0031410 9.43 CHGA GABARAPL1 GABARAPL2 NGF NTRK1 SLC17A5
3 autophagosome GO:0005776 9.33 GABARAPL1 GABARAPL2 ULK1

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of cell proliferation GO:0008285 9.73 CDKN1B HGS MEN1 NGF NTRK1 SULT2B1
2 autophagy GO:0006914 9.67 ATG7 GABARAPL1 GABARAPL2 ULK1
3 positive regulation of protein catabolic process GO:0045732 9.61 ATG7 CDKN1B CSNK2A1
4 neurotrophin TRK receptor signaling pathway GO:0048011 9.54 NGF NTRK1
5 positive regulation of Ras protein signal transduction GO:0046579 9.52 NGF NTRK1
6 triglyceride biosynthetic process GO:0019432 9.51 LPIN1 LPIN3
7 autophagy of mitochondrion GO:0000422 9.5 ATG7 GABARAPL1 GABARAPL2
8 fatty acid catabolic process GO:0009062 9.49 LPIN1 LPIN3
9 phosphatidylethanolamine biosynthetic process GO:0006646 9.48 LPIN1 LPIN3
10 nerve growth factor signaling pathway GO:0038180 9.46 NGF NTRK1
11 autophagy of host cells involved in interaction with symbiont GO:0075044 9.4 ATG7 ULK1
12 cellular response to nitrogen starvation GO:0006995 9.33 ATG7 GABARAPL1 GABARAPL2
13 autophagosome assembly GO:0000045 9.26 ATG7 GABARAPL1 GABARAPL2 ULK1
14 macroautophagy GO:0016236 9.02 ATG7 GABARAPL1 GABARAPL2 HGS ULK1

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

# Name GO ID Score Top Affiliating Genes
1 GABA receptor binding GO:0050811 8.96 GABARAPL1 GABARAPL2
2 phosphatidate phosphatase activity GO:0008195 8.62 LPIN1 LPIN3

Sources for Nemaline Myopathy 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
Content
Loading form....