NEM5
MCID: NML006
MIFTS: 45

Nemaline Myopathy 5 (NEM5)

Categories: Bone diseases, Fetal diseases, Genetic diseases, Muscle diseases, Neuronal diseases, Rare diseases, Respiratory diseases
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Aliases & Classifications for Nemaline Myopathy 5

MalaCards integrated aliases for Nemaline Myopathy 5:

Name: Nemaline Myopathy 5 57 11 73 28 5 43 14 71
Amish Nemaline Myopathy 57 11 19 58 73
Nem5 57 11 19 73
Anm 57 11 19 73
Nemaline Myopathy 5, Amish Type 57 11 19
Nemaline Myopathy, Amish Type 57 19 12
Nemaline Myopathy, Caused by Mutation in the Troponin T1 Gene 19
Tnnt1-Related Nemaline Myopathy 73
Nemaline Myopathy Amish Type 73
Myopathy, Nemaline, Type 5 38
Nemaline Myopathy, Type 5 75

Characteristics:


Inheritance:

Nemaline Myopathy 5: Autosomal recessive 57
Amish Nemaline Myopathy: Autosomal recessive 58

Prevelance:

Amish Nemaline Myopathy: >1/1000 (Specific population) 58

Age Of Onset:

Amish Nemaline Myopathy: Neonatal 58

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
onset in infancy
death secondary to respiratory insufficiency
all cases occur in old order amish, lancaster county, pennsylvania


Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 11 DOID:0110936
OMIM® 57 605355
OMIM Phenotypic Series 57 PS161800
ICD10 via Orphanet 32 G71.2
Orphanet 58 ORPHA98902
MedGen 40 C1854380
UMLS 71 C1854380

Summaries for Nemaline Myopathy 5

UniProtKB/Swiss-Prot: 73 A form of nemaline myopathy. Nemaline myopathies are muscular disorders characterized by muscle weakness of varying severity and onset, and abnormal thread-like or rod-shaped structures in muscle fibers on histologic examination. Nemaline myopathy type 5 is a severe and progressive form common among Old Order Amish. Affected infants display tremors with hypotonia and mild contractures of the shoulders and hips. Proximal contractures progressively weaken and a pectus carinatum deformity develops before children die of respiratory insufficiency, usually in the second year.

MalaCards based summary: Nemaline Myopathy 5, also known as amish nemaline myopathy, is related to nemaline myopathy and dilated cardiomyopathy. An important gene associated with Nemaline Myopathy 5 is TNNT1 (Troponin T1, Slow Skeletal Type), and among its related pathways/superpathways are Cardiac conduction and Striated muscle contraction pathway. Affiliated tissues include skeletal muscle, and related phenotypes are tremor and pectus carinatum

Disease Ontology: 11 A nemaline myopathy that has material basis in homozygous mutation in the TNNT1 gene on chromosome 19q13.

GARD: 19 A type of nemaline myopathy (NM) only observed in several families of the Amish community.

Orphanet: 58 A type of nemaline myopathy (NM) only observed in several families of the Amish community.

Wikipedia: 75 Nemaline myopathy (also called rod myopathy or nemaline rod myopathy) is a congenital, often hereditary... more...

More information from OMIM: 605355 PS161800

Related Diseases for Nemaline Myopathy 5

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
Congenital Nemaline Myopathy

Diseases related to Nemaline Myopathy 5 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 69)
# Related Disease Score Top Affiliating Genes
1 nemaline myopathy 30.0 TPM2 TNNT1 NEB
2 dilated cardiomyopathy 29.3 TPM2 TNNT1 TNNI3 TNNI1 NEB
3 myopathy 28.3 TPM2 TNNT1 TNNI3 TNNI2 NEB LMOD3
4 tremor 10.2
5 congenital nemaline myopathy 10.2
6 arthrogryposis, distal, type 2b2 10.2 TNNT3 TNNT1
7 nemaline myopathy 9 10.1 LMOD3 KBTBD13
8 nemaline myopathy 10 10.1 LMOD3 KBTBD13
9 congenital hemidysplasia with ichthyosiform erythroderma and limb defects 10.1
10 respiratory failure 10.1
11 children's interstitial lung disease 10.1
12 pectus carinatum 10.1
13 hypotonia 10.1
14 severe congenital nemaline myopathy 10.1 NEB LMOD3
15 myopathy, spheroid body 10.1 NEB LMOD3
16 inferior myocardial infarction 10.0 TNNT1 TNNI3
17 left bundle branch hemiblock 10.0 TNNT1 TNNI3
18 central core disease of muscle 10.0 NEB KBTBD13
19 coronary artery vasospasm 10.0 TNNT1 TNNI3
20 immunoglobulin light chain amyloidosis 10.0 TNNT1 TNNI3
21 hyaline body myopathy 10.0 TPM2 NEB
22 gas gangrene 10.0 TNNT1 TNNI3
23 myocardial stunning 10.0 TNNT1 TNNI3
24 acute myocarditis 10.0 TNNT1 TNNI3
25 tricuspid valve insufficiency 10.0 TNNT1 TNNI3
26 nonobstructive coronary artery disease 10.0 TNNT1 TNNI3
27 tricuspid valve disease 10.0 TNNT1 TNNI3
28 spinal cord disease 10.0
29 paraplegia 10.0
30 cerebellar degeneration 10.0
31 mitral valve insufficiency 9.9 TNNT1 TNNI3
32 pericardium disease 9.9 TNNT1 TNNI3
33 mitral valve disease 9.9 TNNT1 TNNI3
34 childhood-onset nemaline myopathy 9.9 TPM2 NEB KBTBD13
35 pulmonary artery disease 9.9 TNNT1 TNNI3
36 restrictive cardiomyopathy 9.9 TNNT1 TNNI3 TNNI1
37 myopathy, distal, 1 9.9 TPM2 NEB KBTBD13
38 typical congenital nemaline myopathy 9.9 TPM2 NEB LMOD3
39 multiminicore disease 9.9 TPM2 NEB KBTBD13
40 centronuclear myopathy 9.9 TPM2 NEB KBTBD13
41 intermediate coronary syndrome 9.9 TNNT1 TNNI3
42 congenital myasthenic syndrome 9.8 TPM2 NEB KBTBD13
43 nemaline myopathy 8 9.8 TNNT3 NEB LMOD3 KBTBD13
44 pericardial effusion 9.8 TNNT1 TNNI3
45 nemaline myopathy 2 9.8 TNNI1 NEB LMOD3 KBTBD13
46 cardiomyopathy, dilated, 1m 9.8 TNNI3 TNNI2
47 extrinsic cardiomyopathy 9.7 TNNT1 TNNI3
48 arthrogryposis, distal, type 10 9.7 TPM2 TNNT3 TNNI2
49 fissured tongue 9.7 TPM2 TNNT3 TNNI2
50 arthrogryposis, distal, type 2b1 9.7 TPM2 TNNT3 TNNI2

Graphical network of the top 20 diseases related to Nemaline Myopathy 5:



Diseases related to Nemaline Myopathy 5

Symptoms & Phenotypes for Nemaline Myopathy 5

Human phenotypes related to Nemaline Myopathy 5:

58 30 (show all 18)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 tremor 58 30 Frequent (33%) Frequent (79-30%)
HP:0001337
2 pectus carinatum 58 30 Frequent (33%) Frequent (79-30%)
HP:0000768
3 neonatal hypotonia 58 30 Frequent (33%) Frequent (79-30%)
HP:0001319
4 emg: myopathic abnormalities 58 30 Frequent (33%) Frequent (79-30%)
HP:0003458
5 motor delay 58 30 Frequent (33%) Frequent (79-30%)
HP:0001270
6 type 1 muscle fiber predominance 58 30 Frequent (33%) Frequent (79-30%)
HP:0003803
7 shoulder flexion contracture 58 30 Frequent (33%) Frequent (79-30%)
HP:0003044
8 hip contracture 58 30 Frequent (33%) Frequent (79-30%)
HP:0003273
9 progressive muscle weakness 58 30 Frequent (33%) Frequent (79-30%)
HP:0003323
10 proximal amyotrophy 58 30 Frequent (33%) Frequent (79-30%)
HP:0007126
11 respiratory insufficiency due to muscle weakness 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002747
12 intellectual disability 58 Excluded (0%)
13 respiratory insufficiency 30 HP:0002093
14 myopathy 30 HP:0003198
15 nemaline bodies 30 HP:0003798
16 delayed gross motor development 30 HP:0002194
17 decreased hip abduction 30 HP:0003184
18 z-band streaming 30 HP:0020203

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Muscle Soft Tissue:
type 1 muscle fiber predominance
muscle weakness, progressive
tremor at birth, involving most skeletal muscle groups, especially jaw muscles and lower limb muscles
tremors subside over the first 2 to 3 months of life
muscle atrophy, progressive
more
Chest External Features:
chest wall rigidity

Skeletal:
contractures, proximal, progressive (shoulders and hips, present at birth)

Neurologic Central Nervous System:
normal intelligence
limited gross motor development

Chest Ribs Sternum Clavicles And Scapulae:
pectus carinatum, severe

Skeletal Pelvis:
limited hip abduction (less than 10 degrees by age 12 months)

Clinical features from OMIM®:

605355 (Updated 08-Dec-2022)

MGI Mouse Phenotypes related to Nemaline Myopathy 5:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 9.1 KBTBD13 LMOD3 NEB TNNI3 TNNT1 TNNT3

Drugs & Therapeutics for Nemaline Myopathy 5

Search Clinical Trials, NIH Clinical Center for Nemaline Myopathy 5

Cochrane evidence based reviews: nemaline myopathy 5

Genetic Tests for Nemaline Myopathy 5

Genetic tests related to Nemaline Myopathy 5:

# Genetic test Affiliating Genes
1 Nemaline Myopathy 5 28 TNNT1

Anatomical Context for Nemaline Myopathy 5

Organs/tissues related to Nemaline Myopathy 5:

MalaCards : Skeletal Muscle
ODiseA: Skeletal Muscle

Publications for Nemaline Myopathy 5

Articles related to Nemaline Myopathy 5:

(show all 21)
# Title Authors PMID Year
1
A novel nemaline myopathy in the Amish caused by a mutation in troponin T1. 62 57 5
10952871 2000
2
TNNT1 nemaline myopathy: natural history and therapeutic frontier. 62 57
29931346 2018
3
Identification of a novel nemaline myopathy-causing mutation in the troponin T1 (TNNT1) gene: a case outside of the old order Amish. 62 5
25430424 2015
4
Cellular fate of truncated slow skeletal muscle troponin T produced by Glu180 nonsense mutation in amish nemaline myopathy. 62 5
15665378 2005
5
Truncation by Glu180 nonsense mutation results in complete loss of slow skeletal muscle troponin T in a lethal nemaline myopathy. 62 5
12732643 2003
6
Functional Basis of Three New Recessive Mutations of Slow Skeletal Muscle Troponin T Found in Non-Amish TNNT1 Nemaline Myopathies. 5
27429059 2016
7
Nemaline myopathy caused byTNNT1 mutations in a Dutch pedigree. 5
24689076 2014
8
Splicing in action: assessing disease causing sequence changes. 5
16199547 2005
9
Troponin-T type 1 (TNNT1)-related nemaline myopathy: unique respiratory phenotype and muscle pathology findings. 62
35249790 2022
10
Novel TNNT1 mutation and mild nemaline myopathy phenotype in an Italian patient. 62
33832840 2021
11
Amish nemaline myopathy and dilated cardiomyopathy caused by a homozygous contiguous gene deletion of TNNT1 and TNNI3 in a Mennonite child. 62
30395933 2019
12
'Amish Nemaline Myopathy' in 2 Italian siblings harbouring a novel homozygous mutation in Troponin-I gene. 62
31604653 2019
13
The loss of slow skeletal muscle isoform of troponin T in spindle intrafusal fibres explains the pathophysiology of Amish nemaline myopathy. 62
31148174 2019
14
Deficiency of slow skeletal muscle troponin T causes atrophy of type I slow fibres and decreases tolerance to fatigue. 62
24445317 2014
15
Spectrum of congenital myopathies: a single centre experience. 62
23860144 2013
16
Transactivation of the human NME5 gene by Sp1 in pancreatic cancer cells. 62
22564704 2012
17
Congenital myopathies: clinical and immunohistochemical study. 62
22234203 2011
18
Deletion of a genomic segment containing the cardiac troponin I gene knocks down expression of the slow troponin T gene and impairs fatigue tolerance of diaphragm muscle. 62
19797054 2009
19
Nonmyofilament-associated troponin T fragments induce apoptosis. 62
19395545 2009
20
Congenital myopathies in Israeli families. 62
17641259 2007
21
[Nemaline myopathy--5 cases from 3 families--clinical and histological studies]. 62
557399 1977

Variations for Nemaline Myopathy 5

ClinVar genetic disease variations for Nemaline Myopathy 5:

5 (show top 50) (show all 190)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TNNT1 NC_000019.10:g.(?_55140863)_(55147177_?)del DEL Pathogenic
583940 GRCh37: 19:55652231-55658545
GRCh38: 19:55140863-55147177
2 TNNT1 NC_000019.10:g.(?_55140873)_(55147167_?)del DEL Pathogenic
660688 GRCh37: 19:55652241-55658535
GRCh38: 19:55140873-55147167
3 TNNT1 NM_003283.6(TNNT1):c.353del (p.Thr118fs) DEL Pathogenic
870626 rs2085439767 GRCh37: 19:55652285-55652285
GRCh38: 19:55140917-55140917
4 TNNT1 NC_000019.9:g.(?_55652231)_(55658525_?)del DEL Pathogenic
1455710 GRCh37: 19:55652231-55658525
GRCh38:
5 TNNT1 NM_003283.6(TNNT1):c.415G>T (p.Glu139Ter) SNV Pathogenic
1456474 GRCh37: 19:55649415-55649415
GRCh38: 19:55138047-55138047
6 TNNT1 NM_003283.6(TNNT1):c.78del (p.Glu27fs) DEL Pathogenic
1452357 GRCh37: 19:55657830-55657830
GRCh38: 19:55146462-55146462
7 TNNT1 NM_003283.6(TNNT1):c.695dup (p.Leu233fs) DUP Pathogenic
949099 rs2085299661 GRCh37: 19:55645488-55645489
GRCh38: 19:55134120-55134121
8 TNNT1 NM_003283.6(TNNT1):c.120dup (p.Lys41fs) DUP Pathogenic
534399 rs1555859304 GRCh37: 19:55656919-55656920
GRCh38: 19:55145551-55145552
9 TNNT1 NM_003283.6(TNNT1):c.452del (p.Lys151fs) DEL Pathogenic
978511 rs2085385176 GRCh37: 19:55649378-55649378
GRCh38: 19:55138010-55138010
10 TNNT1 NC_000019.9:g.(?_55652544)_(55656943_?)del DEL Pathogenic
1413567 GRCh37: 19:55652544-55656943
GRCh38:
11 overlap with 2 genes GRCh37/hg19 19q13.42(chr19:55652193-55665240) CN LOSS Pathogenic
625672 GRCh37: 19:55652193-55665240
GRCh38:
12 overlap with 2 genes NC_000019.10:g.(?_55140863)_(55151937_?)del DEL Pathogenic
651255 GRCh37: 19:55652231-55663305
GRCh38: 19:55140863-55151937
13 TNNT1 NM_003283.6(TNNT1):c.538G>T (p.Glu180Ter) SNV Pathogenic
12440 rs80358249 GRCh37: 19:55648544-55648544
GRCh38: 19:55137176-55137176
14 TNNT1 NM_003283.6(TNNT1):c.387+1G>A SNV Likely Pathogenic
1481323 GRCh37: 19:55652250-55652250
GRCh38: 19:55140882-55140882
15 TNNT1 NM_003283.6(TNNT1):c.502-2A>G SNV Likely Pathogenic
569105 rs1156410888 GRCh37: 19:55648582-55648582
GRCh38: 19:55137214-55137214
16 TNNT1 NM_003283.6(TNNT1):c.1A>G (p.Met1Val) SNV Likely Pathogenic
870625 rs2085575423 GRCh37: 19:55658525-55658525
GRCh38: 19:55147157-55147157
17 TNNT1 NM_003283.6(TNNT1):c.501+1G>A SNV Likely Pathogenic
1066598 GRCh37: 19:55649328-55649328
GRCh38: 19:55137960-55137960
18 TNNT1 NM_003283.6(TNNT1):c.611+1dup DUP Likely Pathogenic
1325207 GRCh37: 19:55648469-55648470
GRCh38: 19:55137101-55137102
19 TNNT1 NM_003283.6(TNNT1):c.606_607insTAGTG (p.Leu203Ter) INSERT Likely Pathogenic
804429 rs1599875856 GRCh37: 19:55648475-55648476
GRCh38: 19:55137107-55137108
20 TNNT1 NM_003283.6(TNNT1):c.32+5G>A SNV Likely Pathogenic
465995 rs1555859876 GRCh37: 19:55658489-55658489
GRCh38: 19:55147121-55147121
21 TNNT1 NM_003283.6(TNNT1):c.792-2A>G SNV Likely Pathogenic
465998 rs1555855228 GRCh37: 19:55644330-55644330
GRCh38: 19:55132962-55132962
22 TNNT1 NM_003283.6(TNNT1):c.47-6C>G SNV Conflicting Interpretations Of Pathogenicity
259031 rs375682055 GRCh37: 19:55658081-55658081
GRCh38: 19:55146713-55146713
23 TNNT1 NM_003283.6(TNNT1):c.751-5C>T SNV Conflicting Interpretations Of Pathogenicity
259035 rs192248377 GRCh37: 19:55645300-55645300
GRCh38: 19:55133932-55133932
24 TNNT1 NM_003283.6(TNNT1):c.750+15C>T SNV Conflicting Interpretations Of Pathogenicity
330192 rs138664823 GRCh37: 19:55645419-55645419
GRCh38: 19:55134051-55134051
25 TNNT1 NM_003283.6(TNNT1):c.611+12G>T SNV Conflicting Interpretations Of Pathogenicity
330193 rs376456377 GRCh37: 19:55648459-55648459
GRCh38: 19:55137091-55137091
26 TNNT1 NM_003283.6(TNNT1):c.791+12C>T SNV Conflicting Interpretations Of Pathogenicity
330190 rs201143291 GRCh37: 19:55645243-55645243
GRCh38: 19:55133875-55133875
27 TNNT1 NM_003283.6(TNNT1):c.611+12G>A SNV Conflicting Interpretations Of Pathogenicity
388590 rs376456377 GRCh37: 19:55648459-55648459
GRCh38: 19:55137091-55137091
28 TNNT1 NM_003283.6(TNNT1):c.366C>T (p.Arg122=) SNV Conflicting Interpretations Of Pathogenicity
894348 rs375999352 GRCh37: 19:55652272-55652272
GRCh38: 19:55140904-55140904
29 TNNT1 NM_003283.6(TNNT1):c.279A>G (p.Glu93=) SNV Conflicting Interpretations Of Pathogenicity
31856 rs34313388 GRCh37: 19:55652584-55652584
GRCh38: 19:55141216-55141216
30 TNNT1 NM_003283.6(TNNT1):c.310-14T>C SNV Conflicting Interpretations Of Pathogenicity
383122 rs115663668 GRCh37: 19:55652342-55652342
GRCh38: 19:55140974-55140974
31 TNNT1 NM_003283.6(TNNT1):c.355G>A (p.Glu119Lys) SNV Uncertain Significance
330194 rs752992299 GRCh37: 19:55652283-55652283
GRCh38: 19:55140915-55140915
32 TNNT1 NM_003283.6(TNNT1):c.582C>A (p.Asp194Glu) SNV Uncertain Significance
1484371 GRCh37: 19:55648500-55648500
GRCh38: 19:55137132-55137132
33 TNNT1 NM_003283.6(TNNT1):c.31_32+1del MICROSAT Uncertain Significance
497007 rs944152647 GRCh37: 19:55658493-55658495
GRCh38: 19:55147125-55147127
34 overlap with 11 genes NC_000019.9:g.(?_55644273)_(55768277_?)dup DUP Uncertain Significance
648531 GRCh37: 19:55644273-55768277
GRCh38: 19:55132905-55256909
35 TNNT1 NM_003283.6(TNNT1):c.376G>C (p.Ala126Pro) SNV Uncertain Significance
1714554 GRCh37: 19:55652262-55652262
GRCh38: 19:55140894-55140894
36 TNNT1 NM_003283.6(TNNT1):c.746A>G (p.Tyr249Cys) SNV Uncertain Significance
1713944 GRCh37: 19:55645438-55645438
GRCh38: 19:55134070-55134070
37 TNNT1 NM_003283.6(TNNT1):c.569A>G (p.Lys190Arg) SNV Uncertain Significance
934525 rs2085359836 GRCh37: 19:55648513-55648513
GRCh38: 19:55137145-55137145
38 TNNT1 NM_003283.6(TNNT1):c.585T>G (p.Ile195Met) SNV Uncertain Significance
934742 rs2085359369 GRCh37: 19:55648497-55648497
GRCh38: 19:55137129-55137129
39 TNNT1 NM_003283.6(TNNT1):c.311A>T (p.Glu104Val) SNV Uncertain Significance
940131 rs2085441049 GRCh37: 19:55652327-55652327
GRCh38: 19:55140959-55140959
40 TNNT1 NM_003283.6(TNNT1):c.308T>C (p.Ile103Thr) SNV Uncertain Significance
940599 rs1050413432 GRCh37: 19:55652555-55652555
GRCh38: 19:55141187-55141187
41 TNNT1 NM_003283.6(TNNT1):c.284A>G (p.Glu95Gly) SNV Uncertain Significance
947022 rs1308212644 GRCh37: 19:55652579-55652579
GRCh38: 19:55141211-55141211
42 TNNT1 NM_003283.6(TNNT1):c.550C>T (p.Arg184Cys) SNV Uncertain Significance
949441 rs12976760 GRCh37: 19:55648532-55648532
GRCh38: 19:55137164-55137164
43 TNNT1 NM_003283.6(TNNT1):c.460C>G (p.Leu154Val) SNV Uncertain Significance
962524 rs2085384859 GRCh37: 19:55649370-55649370
GRCh38: 19:55138002-55138002
44 TNNT1 NM_003283.6(TNNT1):c.711G>T (p.Lys237Asn) SNV Uncertain Significance
962593 rs920784477 GRCh37: 19:55645473-55645473
GRCh38: 19:55134105-55134105
45 TNNT1 NM_003283.6(TNNT1):c.723G>A (p.Met241Ile) SNV Uncertain Significance
962709 rs2085298945 GRCh37: 19:55645461-55645461
GRCh38: 19:55134093-55134093
46 TNNT1 NM_003283.6(TNNT1):c.26A>G (p.Tyr9Cys) SNV Uncertain Significance
969432 rs1449981150 GRCh37: 19:55658500-55658500
GRCh38: 19:55147132-55147132
47 TNNT1 NM_003283.6(TNNT1):c.5C>G (p.Ser2Trp) SNV Uncertain Significance
1000388 rs1041234929 GRCh37: 19:55658521-55658521
GRCh38: 19:55147153-55147153
48 TNNT1 NM_003283.6(TNNT1):c.207G>T (p.Lys69Asn) SNV Uncertain Significance
1010087 rs2085449480 GRCh37: 19:55652656-55652656
GRCh38: 19:55141288-55141288
49 TNNT1 NM_003283.6(TNNT1):c.309+6C>T SNV Uncertain Significance
1015747 rs932070035 GRCh37: 19:55652548-55652548
GRCh38: 19:55141180-55141180
50 TNNT1 NM_003283.6(TNNT1):c.136G>A (p.Val46Met) SNV Uncertain Significance
1022550 rs778199645 GRCh37: 19:55653281-55653281
GRCh38: 19:55141913-55141913

Expression for Nemaline Myopathy 5

Search GEO for disease gene expression data for Nemaline Myopathy 5.

Pathways for Nemaline Myopathy 5

GO Terms for Nemaline Myopathy 5

Cellular components related to Nemaline Myopathy 5 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 troponin complex GO:0005861 9.4 TNNT3 TNNT1 TNNI3 TNNI2 TNNI1 TNNC2
2 contractile fiber GO:0043292 8.96 TNNI3 NEB

Biological processes related to Nemaline Myopathy 5 according to GeneCards Suite gene sharing:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 actin filament organization GO:0007015 9.95 TPM2 LMOD3 KBTBD13
2 sarcomere organization GO:0045214 9.81 TNNT3 TNNT1
3 ventricular cardiac muscle tissue morphogenesis GO:0055010 9.8 TNNI3 TNNI1
4 cardiac muscle contraction GO:0060048 9.8 TNNI3 TNNI2 TNNI1
5 muscle contraction GO:0006936 9.8 TPM2 TNNT3 TNNT1 TNNI3 TNNI2 TNNI1
6 regulation of ATP-dependent activity GO:0043462 9.73 TPM2 TNNT3
7 regulation of striated muscle contraction GO:0006942 9.71 TNNT3 TNNI1
8 regulation of muscle contraction GO:0006937 9.7 TNNT3 TNNT1 TNNI3 TNNI2 TNNC2
9 transition between fast and slow fiber GO:0014883 9.67 TNNT1 TNNI1
10 striated muscle contraction GO:0006941 9.63 TNNI3 LMOD3
11 skeletal muscle contraction GO:0003009 9.4 TNNT3 TNNT1 TNNI3 TNNI2 TNNI1 TNNC2
12 regulation of system process GO:0044057 9.26 TNNT1 TNNT3

Molecular functions related to Nemaline Myopathy 5 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 actin filament binding GO:0051015 9.96 TPM2 TNNI3 TNNC2 NEB KBTBD13
2 calcium-dependent protein binding GO:0048306 9.85 TNNT3 TNNI3 TNNC2
3 tropomyosin binding GO:0005523 9.63 LMOD3 TNNT1 TNNT3
4 troponin C binding GO:0030172 9.62 TNNT3 TNNI3
5 actin binding GO:0003779 9.44 TPM2 TNNT3 TNNI3 TNNI2 TNNI1 TNNC2
6 troponin T binding GO:0031014 9.43 TNNT1 TNNI3 TNNI2

Sources for Nemaline Myopathy 5

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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