NEM8
MCID: NML025
MIFTS: 40

Nemaline Myopathy 8 (NEM8)

Categories: Bone diseases, Fetal diseases, Genetic diseases, Muscle diseases, Neuronal diseases, Rare diseases, Respiratory diseases
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Aliases & Classifications for Nemaline Myopathy 8

MalaCards integrated aliases for Nemaline Myopathy 8:

Name: Nemaline Myopathy 8 57 11 73 28 5 14 71
Nemaline Myopathy 8, Autosomal Recessive 57 11 73
Nem8 57 11 73
Myopathy, Nemaline, Type 8 38

Characteristics:


Inheritance:

Autosomal recessive 57

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
onset in utero
severe phenotype
death often occurs in infancy


Classifications:



External Ids:

Disease Ontology 11 DOID:0110930
OMIM® 57 615348
OMIM Phenotypic Series 57 PS161800
MeSH 43 D017696
UMLS 71 C3809209

Summaries for Nemaline Myopathy 8

UniProtKB/Swiss-Prot: 73 A severe 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. NEM8 is characterized by fetal akinesia or hypokinesia, followed by contractures, fractures, respiratory failure, and swallowing difficulties apparent at birth. Most patients die in infancy. Skeletal muscle biopsy shows numerous small nemaline bodies, often with no normal myofibrils.

MalaCards based summary: Nemaline Myopathy 8, also known as nemaline myopathy 8, autosomal recessive, is related to nemaline myopathy and respiratory failure. An important gene associated with Nemaline Myopathy 8 is KLHL40 (Kelch Like Family Member 40), and among its related pathways/superpathways is Striated muscle contraction pathway. Affiliated tissues include skeletal muscle, and related phenotypes are dysphagia and facial palsy

OMIM®: 57 Nemaline myopathy-8 is a severe autosomal recessive muscle disorder characterized by fetal akinesia or hypokinesia, followed by contractures, fractures, respiratory failure, and swallowing difficulties apparent at birth. Most patients die in infancy. Skeletal muscle biopsy shows numerous small nemaline bodies, often with no normal myofibrils (summary by Ravenscroft et al., 2013). For a discussion of genetic heterogeneity of nemaline myopathy, see NEM3 (161800). (615348) (Updated 08-Dec-2022)

Disease Ontology: 11 A nemaline myopathy characterized by fetal akinesia or hypokinesia, followed by contractures, fractures, respiratory failure, and swallowing difficulties apparent at birth that has material basis in homozygous or compound heterozygous mutation in the KLHL40 gene on chromosome 3p22.

Related Diseases for Nemaline Myopathy 8

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 8 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 49)
# Related Disease Score Top Affiliating Genes
1 nemaline myopathy 30.4 NEB KLHL41
2 respiratory failure 30.0 MYPN LMOD3 KLHL40
3 neuromuscular disease 29.4 NEB KLHL40 KBTBD13
4 myopathy 29.1 NEB MYPN LMOD3 KLHL41 KLHL40 KBTBD13
5 polyhydramnios 10.2
6 king-denborough syndrome 10.2 KLHL40 KBTBD13
7 neuronopathy, distal hereditary motor, type iia 10.1 LMOD3 KLHL40
8 locked-in syndrome 10.1 LMOD3 KLHL40
9 nemaline myopathy 6 10.1 KLHL2 KBTBD13
10 telecanthus 10.0
11 cryptorchidism, unilateral or bilateral 10.0
12 clubfoot 10.0
13 hypertonia 10.0
14 spinal muscular atrophy type 0 10.0 LMOD3 KLHL41 KLHL40
15 cold-induced sweating syndrome 10.0 KLHL40 KLHL2
16 scoliosis 10.0
17 hypotonia 10.0
18 intermediate congenital nemaline myopathy 9.9 NEB KLHL41
19 cardiomyopathy, dilated, 1ff 9.9 TNNT3 LMOD3 KBTBD13
20 cardiomyopathy, dilated, 2a 9.9 TNNT3 LMOD3 KBTBD13
21 nemaline myopathy 9 9.9 LMOD3 KLHL41 KLHL40 KBTBD13
22 myopathy, distal, 1 9.9 NEB KBTBD13
23 nemaline myopathy 11, autosomal recessive 9.9 MYPN LMOD3 KLHL40
24 distal hereditary motor neuronopathy type 2 9.8 LMOD3 KLHL40
25 central core disease of muscle 9.8 NEB KBTBD13
26 centronuclear myopathy 9.8 NEB KLHL40 KBTBD13
27 typical congenital nemaline myopathy 9.8 NEB LMOD3 KLHL41
28 congenital myasthenic syndrome 9.7 NEB KLHL40 KBTBD13
29 myopathy, myofibrillar, 4 9.7 NEB MYPN
30 multiminicore disease 9.7 NEB KBTBD13
31 myopathy, myofibrillar, 3 9.7 NEB MYPN
32 endocardial fibroelastosis 9.7 NEB MYPN
33 myopathy, myofibrillar, 9, with early respiratory failure 9.7 NEB MYPN
34 myopathy, myofibrillar, 1 9.7 NEB MYPN
35 tibial muscular dystrophy 9.7 NEB MYPN
36 camptodactyly-arthropathy-coxa vara-pericarditis syndrome 9.7 TNNT3 NEB KBTBD13
37 severe congenital nemaline myopathy 9.6 NEB LMOD3 KLHL41 KLHL40
38 myofibrillar myopathy 9.6 NEB MYPN KLHL40
39 myopathy, spheroid body 9.6 NEB MYPN LMOD3
40 nemaline myopathy 10 9.6 MYPN LMOD3 KLHL41 KLHL40 KBTBD13
41 nemaline myopathy 5 9.5 TNNT3 NEB LMOD3 KBTBD13
42 childhood-onset nemaline myopathy 9.5 NEB MYPN KLHL41 KBTBD13
43 cardiomyopathy, familial hypertrophic, 1 9.3 TNNT3 NEB MYPN
44 multiple pterygium syndrome, escobar variant 9.3 TNNT3 NEB LMOD3 KLHL41 KLHL40
45 congenital fiber-type disproportion 9.2 TNNT3 NEB LMOD3 KLHL41 KLHL40 KBTBD13
46 distal arthrogryposis 9.2 TNNT3 NEB LMOD3 KLHL41 KLHL40 KBTBD13
47 nemaline myopathy 2 9.1 NEB MYPN LMOD3 KLHL41 KLHL40 KBTBD13
48 batten-turner congenital myopathy 9.1 NEB MYPN LMOD3 KLHL41 KLHL40 KBTBD13
49 congenital structural myopathy 8.9 TNNT3 NEB MYPN LMOD3 KLHL41 KLHL40

Graphical network of the top 20 diseases related to Nemaline Myopathy 8:



Diseases related to Nemaline Myopathy 8

Symptoms & Phenotypes for Nemaline Myopathy 8

Human phenotypes related to Nemaline Myopathy 8:

30 (show all 10)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 dysphagia 30 Very rare (1%) HP:0002015
2 facial palsy 30 Very rare (1%) HP:0010628
3 flexion contracture 30 Very rare (1%) HP:0001371
4 polyhydramnios 30 Very rare (1%) HP:0001561
5 ophthalmoparesis 30 Very rare (1%) HP:0000597
6 respiratory failure 30 Very rare (1%) HP:0002878
7 gastrostomy tube feeding in infancy 30 Very rare (1%) HP:0011471
8 nemaline bodies 30 HP:0003798
9 fetal akinesia sequence 30 HP:0001989
10 myofibrillar myopathy 30 HP:0003715

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Skeletal:
fetal akinesia sequence
fractures
contractures, congenital

Muscle Soft Tissue:
akinesia
hypokinesia
muscle weakness, severe
no spontaneous antigravity movement
small nemaline bodies seen on muscle biopsy
more
Head And Neck Face:
facial weakness
dysmorphic features, mild

Head And Neck Eyes:
ophthalmoparesis (in some patients)

Prenatal Manifestations Amniotic Fluid:
polyhydramnios

Prenatal Manifestations Movement:
akinesia
hypokinesia

Respiratory:
respiratory failure due to muscle weakness

Abdomen Gastrointestinal:
swallowing difficulties due to muscle weakness

Clinical features from OMIM®:

615348 (Updated 08-Dec-2022)

MGI Mouse Phenotypes related to Nemaline Myopathy 8:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 9.17 KBTBD13 KLHL40 KLHL41 LMOD3 MYPN NEB

Drugs & Therapeutics for Nemaline Myopathy 8

Search Clinical Trials, NIH Clinical Center for Nemaline Myopathy 8

Genetic Tests for Nemaline Myopathy 8

Genetic tests related to Nemaline Myopathy 8:

# Genetic test Affiliating Genes
1 Nemaline Myopathy 8 28 KLHL40

Anatomical Context for Nemaline Myopathy 8

Organs/tissues related to Nemaline Myopathy 8:

MalaCards : Skeletal Muscle
ODiseA: Skeletal Muscle

Publications for Nemaline Myopathy 8

Articles related to Nemaline Myopathy 8:

(show all 11)
# Title Authors PMID Year
1
Mutations in KLHL40 are a frequent cause of severe autosomal-recessive nemaline myopathy. 57 5
23746549 2013
2
Founder Mutation c.1516A>C in KLHL40 Is a Frequent Cause of Nemaline Myopathy With Hyponatremia in Ethnic Chinese. 5
31360996 2019
3
Use of Exome Sequencing for Infants in Intensive Care Units: Ascertainment of Severe Single-Gene Disorders and Effect on Medical Management. 5
28973083 2017
4
Identification of KLHL40 mutations by targeted next-generation sequencing facilitated a prenatal diagnosis in a family with three consecutive affected fetuses with fetal akinesia deformation sequence. 5
27762439 2016
5
Mild clinical presentation in KLHL40-related nemaline myopathy (NEM 8). 5
27528495 2016
6
KLHL40 deficiency destabilizes thin filament proteins and promotes nemaline myopathy. 57
24960163 2014
7
Splicing in action: assessing disease causing sequence changes. 5
16199547 2005
8
A KLHL40 3' UTR splice-altering variant causes milder NEM8, an under-appreciated disease mechanism. 62
36322148 2022
9
Clinical and molecular analysis of four unrelated Chinese families with pathogenic KLHL40 variants causing nemaline myopathy 8. 62
35379254 2022
10
A novel and recurrent KLHL40 pathogenic variants in a Chinese family of multiple affected neonates with nemaline myopathy 8. 62
33978323 2021
11
The KLHL40 c.1516A>C is a Chinese-specific founder mutation causing nemaline myopathy 8: Report of six patients with pre- and postnatal phenotypes. 62
32352246 2020

Variations for Nemaline Myopathy 8

ClinVar genetic disease variations for Nemaline Myopathy 8:

5 (show top 50) (show all 339)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 KLHL40 NM_152393.4(KLHL40):c.602G>T (p.Trp201Leu) SNV Pathogenic
60514 rs397509420 GRCh37: 3:42727712-42727712
GRCh38: 3:42686220-42686220
2 KLHL40 NM_152393.4(KLHL40):c.1612G>C (p.Ala538Pro) SNV Pathogenic
60515 rs397509421 GRCh37: 3:42732355-42732355
GRCh38: 3:42690863-42690863
3 KLHL40 NM_152393.4(KLHL40):c.602G>A (p.Trp201Ter) SNV Pathogenic
60516 rs397509420 GRCh37: 3:42727712-42727712
GRCh38: 3:42686220-42686220
4 KLHL40 NM_152393.4(KLHL40):c.211G>T (p.Glu71Ter) SNV Pathogenic
961304 rs375331819 GRCh37: 3:42727321-42727321
GRCh38: 3:42685829-42685829
5 KLHL40 NM_152393.4(KLHL40):c.1281_1294del (p.Cys428fs) DEL Pathogenic
1320051 GRCh37: 3:42729761-42729774
GRCh38: 3:42688269-42688282
6 KLHL40 NM_152393.4(KLHL40):c.818dup (p.Lys275fs) DUP Pathogenic
650910 rs1575218831 GRCh37: 3:42727926-42727927
GRCh38: 3:42686434-42686435
7 KLHL40 NM_152393.4(KLHL40):c.1395C>A (p.Tyr465Ter) SNV Pathogenic
541327 rs139588377 GRCh37: 3:42730183-42730183
GRCh38: 3:42688691-42688691
8 KLHL40 NM_152393.4(KLHL40):c.544_545del (p.Ser182fs) MICROSAT Pathogenic
952701 rs1384412486 GRCh37: 3:42727652-42727653
GRCh38: 3:42686160-42686161
9 KLHL40 NM_152393.4(KLHL40):c.631del (p.Ala211fs) DEL Pathogenic
658674 rs752734208 GRCh37: 3:42727740-42727740
GRCh38: 3:42686248-42686248
10 KLHL40 NM_152393.4(KLHL40):c.223G>T (p.Glu75Ter) SNV Pathogenic
1405293 GRCh37: 3:42727333-42727333
GRCh38: 3:42685841-42685841
11 KLHL40 NM_152393.4(KLHL40):c.58C>T (p.Gln20Ter) SNV Pathogenic
1388572 GRCh37: 3:42727168-42727168
GRCh38: 3:42685676-42685676
12 KLHL40 NM_152393.4(KLHL40):c.173del (p.Phe58fs) DEL Pathogenic
1454686 GRCh37: 3:42727282-42727282
GRCh38: 3:42685790-42685790
13 KLHL40 NM_152393.4(KLHL40):c.928del (p.Leu310fs) DEL Pathogenic
1411479 GRCh37: 3:42728036-42728036
GRCh38: 3:42686544-42686544
14 KLHL40 NM_152393.4(KLHL40):c.205_214del (p.Ala69fs) DEL Pathogenic
1458028 GRCh37: 3:42727313-42727322
GRCh38: 3:42685821-42685830
15 KLHL40 NM_152393.4(KLHL40):c.1608-1G>A SNV Pathogenic
1172562 GRCh37: 3:42732350-42732350
GRCh38: 3:42690858-42690858
16 KLHL40 NM_152393.4(KLHL40):c.1516A>C (p.Thr506Pro) SNV Pathogenic
846771 rs778022582 GRCh37: 3:42730455-42730455
GRCh38: 3:42688963-42688963
17 KLHL40 NM_152393.4(KLHL40):c.1498C>T (p.Arg500Cys) SNV Pathogenic/Likely Pathogenic
423767 rs758188096 GRCh37: 3:42730437-42730437
GRCh38: 3:42688945-42688945
18 KLHL40 NM_152393.4(KLHL40):c.703G>T (p.Glu235Ter) SNV Pathogenic/Likely Pathogenic
1029197 rs768335581 GRCh37: 3:42727813-42727813
GRCh38: 3:42686321-42686321
19 KLHL40 NM_152393.4(KLHL40):c.1582G>A (p.Glu528Lys) SNV Pathogenic/Likely Pathogenic
60512 rs397509419 GRCh37: 3:42730521-42730521
GRCh38: 3:42689029-42689029
20 KLHL40 NM_152393.4(KLHL40):c.1405G>T (p.Gly469Cys) SNV Likely Pathogenic
60513 rs367579275 GRCh37: 3:42730193-42730193
GRCh38: 3:42688701-42688701
21 KLHL40 NM_152393.4(KLHL40):c.1350C>A (p.Tyr450Ter) SNV Likely Pathogenic
1675302 GRCh37: 3:42730138-42730138
GRCh38: 3:42688646-42688646
22 KLHL40 NM_152393.4(KLHL40):c.1607+1G>T SNV Likely Pathogenic
1510362 GRCh37: 3:42730547-42730547
GRCh38: 3:42689055-42689055
23 KLHL40 NM_152393.4(KLHL40):c.1152+2T>A SNV Likely Pathogenic
653053 rs1575219191 GRCh37: 3:42728264-42728264
GRCh38: 3:42686772-42686772
24 KLHL40 NM_152393.4(KLHL40):c.1489C>T (p.Gln497Ter) SNV Likely Pathogenic
1029196 rs1697319878 GRCh37: 3:42730428-42730428
GRCh38: 3:42688936-42688936
25 KLHL40 NM_152393.4(KLHL40):c.25G>T (p.Glu9Ter) SNV Likely Pathogenic
804436 rs1575218072 GRCh37: 3:42727135-42727135
GRCh38: 3:42685643-42685643
26 KLHL40 NM_152393.4(KLHL40):c.176G>C (p.Arg59Pro) SNV Likely Pathogenic
807621 rs778303947 GRCh37: 3:42727286-42727286
GRCh38: 3:42685794-42685794
27 KLHL40 NM_152393.4(KLHL40):c.1153-2A>T SNV Likely Pathogenic
541330 rs752493018 GRCh37: 3:42729632-42729632
GRCh38: 3:42688140-42688140
28 KLHL40 NM_152393.4(KLHL40):c.1421+1G>T SNV Likely Pathogenic
571143 rs1186218257 GRCh37: 3:42730210-42730210
GRCh38: 3:42688718-42688718
29 KLHL40 NM_152393.4(KLHL40):c.100G>C (p.Asp34His) SNV Conflicting Interpretations Of Pathogenicity
640377 rs778565563 GRCh37: 3:42727210-42727210
GRCh38: 3:42685718-42685718
30 KLHL40 NM_152393.4(KLHL40):c.931C>A (p.Arg311Ser) SNV Conflicting Interpretations Of Pathogenicity
474339 rs763283033 GRCh37: 3:42728041-42728041
GRCh38: 3:42686549-42686549
31 KLHL40 NM_152393.4(KLHL40):c.1273G>A (p.Gly425Ser) SNV Conflicting Interpretations Of Pathogenicity
474324 rs138791086 GRCh37: 3:42729754-42729754
GRCh38: 3:42688262-42688262
32 KLHL40 NM_152393.4(KLHL40):c.88G>A (p.Gly30Ser) SNV Uncertain Significance
578842 rs140056720 GRCh37: 3:42727198-42727198
GRCh38: 3:42685706-42685706
33 KLHL40 NM_152393.4(KLHL40):c.1396G>A (p.Val466Ile) SNV Uncertain Significance
634636 rs773720799 GRCh37: 3:42730184-42730184
GRCh38: 3:42688692-42688692
34 KLHL40 NM_152393.4(KLHL40):c.182G>A (p.Arg61His) SNV Uncertain Significance
1007773 rs778276929 GRCh37: 3:42727292-42727292
GRCh38: 3:42685800-42685800
35 KLHL40 NM_152393.4(KLHL40):c.1477C>G (p.Leu493Val) SNV Uncertain Significance
474329 rs375270697 GRCh37: 3:42730416-42730416
GRCh38: 3:42688924-42688924
36 KLHL40 NM_152393.4(KLHL40):c.1405G>A (p.Gly469Ser) SNV Uncertain Significance
689641 rs367579275 GRCh37: 3:42730193-42730193
GRCh38: 3:42688701-42688701
37 KLHL40 NM_152393.4(KLHL40):c.655A>G (p.Thr219Ala) SNV Uncertain Significance
1713345 GRCh37: 3:42727765-42727765
GRCh38: 3:42686273-42686273
38 KLHL40 NM_152393.4(KLHL40):c.637C>G (p.Arg213Gly) SNV Uncertain Significance
1713637 GRCh37: 3:42727747-42727747
GRCh38: 3:42686255-42686255
39 KLHL40 NM_152393.4(KLHL40):c.1574G>C (p.Ser525Thr) SNV Uncertain Significance
1713677 GRCh37: 3:42730513-42730513
GRCh38: 3:42689021-42689021
40 KLHL40 NM_152393.4(KLHL40):c.719G>C (p.Arg240Pro) SNV Uncertain Significance
1716553 GRCh37: 3:42727829-42727829
GRCh38: 3:42686337-42686337
41 KLHL40 NM_152393.4(KLHL40):c.1243T>C (p.Tyr415His) SNV Uncertain Significance
662094 rs759757085 GRCh37: 3:42729724-42729724
GRCh38: 3:42688232-42688232
42 KLHL40 NM_152393.4(KLHL40):c.1077C>G (p.Asn359Lys) SNV Uncertain Significance
804978 rs377564589 GRCh37: 3:42728187-42728187
GRCh38: 3:42686695-42686695
43 KLHL40 NM_152393.4(KLHL40):c.388C>T (p.Leu130Phe) SNV Uncertain Significance
1360141 GRCh37: 3:42727498-42727498
GRCh38: 3:42686006-42686006
44 KLHL40 NM_152393.4(KLHL40):c.1210C>G (p.Leu404Val) SNV Uncertain Significance
1378076 GRCh37: 3:42729691-42729691
GRCh38: 3:42688199-42688199
45 KLHL40 NM_152393.4(KLHL40):c.1138G>A (p.Ala380Thr) SNV Uncertain Significance
1387779 GRCh37: 3:42728248-42728248
GRCh38: 3:42686756-42686756
46 KLHL40 NM_152393.4(KLHL40):c.519G>A (p.Ser173=) SNV Uncertain Significance
1354905 GRCh37: 3:42727629-42727629
GRCh38: 3:42686137-42686137
47 KLHL40 NM_152393.4(KLHL40):c.806G>A (p.Arg269Gln) SNV Uncertain Significance
1401822 GRCh37: 3:42727916-42727916
GRCh38: 3:42686424-42686424
48 KLHL40 NM_152393.4(KLHL40):c.353C>T (p.Thr118Ile) SNV Uncertain Significance
1406191 GRCh37: 3:42727463-42727463
GRCh38: 3:42685971-42685971
49 KLHL40 NM_152393.4(KLHL40):c.1801G>T (p.Ala601Ser) SNV Uncertain Significance
1421691 GRCh37: 3:42733420-42733420
GRCh38: 3:42691928-42691928
50 KLHL40 NM_152393.4(KLHL40):c.1253G>T (p.Gly418Val) SNV Uncertain Significance
1407051 GRCh37: 3:42729734-42729734
GRCh38: 3:42688242-42688242

UniProtKB/Swiss-Prot genetic disease variations for Nemaline Myopathy 8:

73 (show all 13)
# Symbol AA change Variation ID SNP ID
1 KLHL40 p.Asp34His VAR_069836 rs778565563
2 KLHL40 p.Leu86Pro VAR_069837
3 KLHL40 p.Val194Glu VAR_069838
4 KLHL40 p.Trp201Leu VAR_069839 rs397509420
5 KLHL40 p.Arg311Leu VAR_069840 rs774887948
6 KLHL40 p.Pro397Leu VAR_069841 rs773649133
7 KLHL40 p.His455Arg VAR_069842 rs770866675
8 KLHL40 p.Gly469Cys VAR_069843 rs367579275
9 KLHL40 p.Thr506Pro VAR_069844 rs778022582
10 KLHL40 p.Glu528Lys VAR_069845 rs397509419
11 KLHL40 p.Ala538Pro VAR_069846 rs397509421
12 KLHL40 p.Glu588Lys VAR_069847 rs201856772
13 KLHL40 p.Ala505Pro VAR_077952

Expression for Nemaline Myopathy 8

Search GEO for disease gene expression data for Nemaline Myopathy 8.

Pathways for Nemaline Myopathy 8

Pathways related to Nemaline Myopathy 8 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
10.49 TNNT3 NEB

GO Terms for Nemaline Myopathy 8

Cellular components related to Nemaline Myopathy 8 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 M band GO:0031430 9.56 LMOD3 KLHL41
2 I band GO:0031674 9.46 MYPN KLHL40
3 A band GO:0031672 9.13 LMOD3 KLHL40
4 Cul3-RING ubiquitin ligase complex GO:0031463 9.1 KLHL41 KLHL40 KLHL2

Biological processes related to Nemaline Myopathy 8 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 striated muscle contraction GO:0006941 9.56 LMOD3 KLHL41
2 myofibril assembly GO:0030239 9.46 LMOD3 KLHL41
3 sarcomere organization GO:0045214 9.43 TNNT3 MYPN KLHL41
4 skeletal muscle fiber development GO:0048741 9.1 LMOD3 KLHL41 KLHL40

Molecular functions related to Nemaline Myopathy 8 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 actin binding GO:0003779 9.5 TNNT3 NEB MYPN KLHL2
2 tropomyosin binding GO:0005523 8.92 TNNT3 LMOD3

Sources for Nemaline Myopathy 8

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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