LVNC1
MCID: LFT021
MIFTS: 44

Left Ventricular Noncompaction 1 (LVNC1)

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

Aliases & Classifications for Left Ventricular Noncompaction 1

MalaCards integrated aliases for Left Ventricular Noncompaction 1:

Name: Left Ventricular Noncompaction 1 57 29 6
Left Ventricular Noncompaction 1, with or Without Congenital Heart Defects 57 13
Lvnc1 57 72
Noncompaction of Left Ventricular Myocardium, Familial Isolated, Autosomal Dominant 1 70
Non-Compaction of Left Ventricular Myocardium Isolated Autosomal Dominant Type 1 72
Non-Compaction of Left Ventricular Myocardium with Congenital Heart Defects 72
Left Ventricular Noncompaction 1 with or Without Congenital Heart Defects 57
Left Ventricular Non-Compaction with or Without Congenital Heart Defects 72
Isolated Noncompaction of the Ventricular Myocardium 44
Ventricular Noncompaction, Left, Type 1 39
Left Ventricular Non-Compaction 1 72

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant


HPO:

31
left ventricular noncompaction 1:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM® 57 604169
OMIM Phenotypic Series 57 PS604169
MeSH 44 D056830
MedGen 41 C1858725
UMLS 70 C1858725

Summaries for Left Ventricular Noncompaction 1

OMIM® : 57 Left ventricular noncompaction (LVNC) is characterized by numerous prominent trabeculations and deep intertrabecular recesses in hypertrophied and hypokinetic segments of the left ventricle (Sasse-Klaassen et al., 2004). The mechanistic basis is thought to be an intrauterine arrest of myocardial development with lack of compaction of the loose myocardial meshwork. LVNC may occur in isolation or in association with congenital heart disease. Distinctive morphologic features can be recognized on 2-dimensional echocardiography (Kurosaki et al., 1999). Noncompaction of the ventricular myocardium is sometimes referred to as spongy myocardium. Stollberger et al. (2002) commented that the term 'isolated LVNC,' meaning LVNC without coexisting cardiac abnormalities, is misleading, because additional cardiac abnormalities are found in nearly all patients with LVNC. (604169) (Updated 05-Apr-2021)

MalaCards based summary : Left Ventricular Noncompaction 1, also known as left ventricular noncompaction 1, with or without congenital heart defects, is related to wolff-parkinson-white syndrome and left bundle branch hemiblock. An important gene associated with Left Ventricular Noncompaction 1 is DTNA (Dystrobrevin Alpha), and among its related pathways/superpathways are Striated Muscle Contraction and Antiarrhythmic Pathway, Pharmacodynamics. Affiliated tissues include heart, and related phenotypes are sudden cardiac death and congestive heart failure

UniProtKB/Swiss-Prot : 72 Left ventricular non-compaction 1: A form of left ventricular non-compaction, a cardiomyopathy due to myocardial morphogenesis arrest and characterized by a hypertrophic left ventricle, a severely thickened 2-layered myocardium, numerous prominent trabeculations, deep intertrabecular recesses, and poor systolic function. Clinical manifestations are variable. Some affected individuals experience no symptoms at all, others develop heart failure. In some cases, left ventricular non-compaction is associated with other congenital heart anomalies. LVNC1 is an autosomal dominant condition.

Related Diseases for Left Ventricular Noncompaction 1

Diseases in the Left Ventricular Noncompaction family:

Left Ventricular Noncompaction 1 Left Ventricular Noncompaction 2
Left Ventricular Noncompaction 7 Left Ventricular Noncompaction 8
Left Ventricular Noncompaction 10

Diseases related to Left Ventricular Noncompaction 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 78)
# Related Disease Score Top Affiliating Genes
1 wolff-parkinson-white syndrome 30.4 SCN5A MYH6 JUP
2 left bundle branch hemiblock 30.4 SCN5A PKP2
3 syncope 30.4 SCN5A ACTN2
4 barth syndrome 30.2 MYH6 LDB3 DTNA
5 cardiac conduction defect 30.2 SCN5A MYH6
6 left ventricular noncompaction 29.9 SCN5A PKP2 MYPN MYH6 LOC110121486 LDB3
7 cardiac arrhythmia 29.6 SCN5A PKP2 JUP DTNA
8 atrial standstill 1 29.4 SCN5A PKP2 MYH6 JUP
9 restrictive cardiomyopathy 29.3 PKP2 MYPN MYH6 LDB3
10 myopathy 29.3 MYPN MYH6 LOC110121486 LDB3 DTNA ACTN2
11 long qt syndrome 28.6 SCN5A PKP2 MYPN MYH6 LDB3 ACTN2
12 hypertrophic cardiomyopathy 28.0 SCN5A PKP2 MYPN MYH6 LDB3 JUP
13 unclassified cardiomyopathy 10.6
14 progressive familial heart block, type ia 10.4
15 rare cardiomyopathy 10.3
16 hydrops fetalis, nonimmune 10.2
17 ventricular fibrillation, paroxysmal familial, 1 10.2
18 lymphatic malformation 7 10.2
19 atrioventricular block 10.2
20 neutropenia 10.2
21 transient cerebral ischemia 10.2
22 familial long qt syndrome 10.2
23 muscular lipidosis 10.2
24 late-onset distal myopathy, markesbery-griggs type 10.1 LOC110121486 LDB3
25 mobitz type ii atrioventricular block 10.1 MYH6 LDB3
26 brugada syndrome 1 10.1 SCN5A LDB3
27 cardiomyopathy, dilated, 1c, with or without left ventricular noncompaction 10.0 LOC110121486 LDB3
28 myopathy, spheroid body 10.0 MYPN LDB3
29 familial sick sinus syndrome 10.0 SCN5A MYH6
30 sick sinus syndrome 10.0 SCN5A MYH6
31 myopathy, myofibrillar, 3 10.0 MYPN LDB3
32 myopathy, myofibrillar, 1 10.0 MYPN LDB3
33 sinoatrial node disease 10.0 SCN5A MYH6
34 arrhythmogenic right ventricular dysplasia, familial, 4 10.0 PKP2 JUP
35 arrhythmogenic right ventricular dysplasia, familial, 6 10.0 PKP2 JUP
36 myopathy, myofibrillar, 9, with early respiratory failure 10.0 MYPN LDB3
37 arrhythmogenic right ventricular dysplasia, familial, 8 10.0 PKP2 JUP
38 arrhythmogenic right ventricular dysplasia, familial, 5 9.9 PKP2 JUP
39 arrhythmogenic right ventricular dysplasia, familial, 12 9.9 PKP2 JUP
40 tibial muscular dystrophy 9.9 MYPN LDB3
41 arrhythmogenic right ventricular dysplasia, familial, 11 9.9 PKP2 JUP
42 arrhythmogenic right ventricular dysplasia, familial, 9 9.9 PKP2 JUP
43 cardiomyopathy, dilated, with woolly hair and keratoderma 9.9 PKP2 JUP
44 arrhythmogenic right ventricular dysplasia, familial, 10 9.9 PKP2 JUP
45 muscular dystrophy, congenital, lmna-related 9.9 MYH6 LDB3 DTNA
46 naxos disease 9.9 PKP2 JUP
47 palmoplantar keratoderma, nonepidermolytic 9.9 PKP2 JUP
48 familial isolated arrhythmogenic right ventricular dysplasia 9.9 SCN5A PKP2
49 short qt syndrome 9.8 SCN5A MYPN
50 congestive heart failure 9.8 SCN5A MYH6 ACTN2

Graphical network of the top 20 diseases related to Left Ventricular Noncompaction 1:



Diseases related to Left Ventricular Noncompaction 1

Symptoms & Phenotypes for Left Ventricular Noncompaction 1

Human phenotypes related to Left Ventricular Noncompaction 1:

31 (show all 11)
# Description HPO Frequency HPO Source Accession
1 sudden cardiac death 31 HP:0001645
2 congestive heart failure 31 HP:0001635
3 hypoplastic left heart 31 HP:0004383
4 mitral regurgitation 31 HP:0001653
5 left ventricular hypertrophy 31 HP:0001712
6 patent ductus arteriosus 31 HP:0001643
7 ventricular septal defect 31 HP:0001629
8 atrial fibrillation 31 HP:0005110
9 ventricular arrhythmia 31 HP:0004308
10 left ventricular noncompaction 31 HP:0030682
11 left ventricular noncompaction cardiomyopathy 31 HP:0011664

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Cardiovascular Heart:
sudden cardiac death
congestive heart failure
hypoplastic left heart
left ventricular hypertrophy
ventricular septal defect
more
Cardiovascular Vascular:
patent ductus arteriosus

Clinical features from OMIM®:

604169 (Updated 05-Apr-2021)

MGI Mouse Phenotypes related to Left Ventricular Noncompaction 1:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.5 DTNA JUP LDB3 MYH6 MYPN PKP2
2 muscle MP:0005369 9.17 DTNA JUP LDB3 MYH6 MYPN PKP2

Drugs & Therapeutics for Left Ventricular Noncompaction 1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Cardiac Computed Tomography: Characteristics of Isolated Left Ventricular Non-compaction Completed NCT01470014

Search NIH Clinical Center for Left Ventricular Noncompaction 1

Cochrane evidence based reviews: isolated noncompaction of the ventricular myocardium

Genetic Tests for Left Ventricular Noncompaction 1

Genetic tests related to Left Ventricular Noncompaction 1:

# Genetic test Affiliating Genes
1 Left Ventricular Noncompaction 1 29 DTNA

Anatomical Context for Left Ventricular Noncompaction 1

MalaCards organs/tissues related to Left Ventricular Noncompaction 1:

40
Heart

Publications for Left Ventricular Noncompaction 1

Articles related to Left Ventricular Noncompaction 1:

(show all 16)
# Title Authors PMID Year
1
Phenotype and Functional Analyses in a Transgenic Mouse Model of Left Ventricular Noncompaction Caused by a DTNA Mutation. 6 57
29118297 2017
2
Novel gene mutations in patients with left ventricular noncompaction or Barth syndrome. 57 6
11238270 2001
3
Sarcomere gene mutations in isolated left ventricular noncompaction cardiomyopathy do not predict clinical phenotype. 57
21551322 2011
4
Left ventricular noncompaction. 57
19057090 2009
5
Mutations in sarcomere protein genes in left ventricular noncompaction. 57
18506004 2008
6
Mutation in the alpha-cardiac actin gene associated with apical hypertrophic cardiomyopathy, left ventricular non-compaction, and septal defects. 57
17611253 2007
7
Contemporary definitions and classification of the cardiomyopathies: an American Heart Association Scientific Statement from the Council on Clinical Cardiology, Heart Failure and Transplantation Committee; Quality of Care and Outcomes Research and Functional Genomics and Translational Biology Interdisciplinary Working Groups; and Council on Epidemiology and Prevention. 57
16567565 2006
8
Novel gene locus for autosomal dominant left ventricular noncompaction maps to chromosome 11p15. 57
15173023 2004
9
Isolated noncompaction of the left ventricular myocardium in the adult is an autosomal dominant disorder in the majority of patients. 57
12749056 2003
10
Left ventricular hypertrabeculation/noncompaction and association with additional cardiac abnormalities and neuromuscular disorders. 57
12372586 2002
11
Ventricular noncompaction and distal chromosome 5q deletion. 57
10398271 1999
12
Familial isolated noncompaction of the left ventricular myocardium. 57
10393402 1999
13
Familial isolated noncompaction of ventricular myocardium. 57
10083739 1999
14
Isolated noncompaction of the myocardium in adults. 57
9005281 1997
15
Isolated noncompaction of left ventricular myocardium. A study of eight cases. 57
2372897 1990
16
Inpatient detection of cardiac-inherited disease: the impact of improving family history taking. 61
26925241 2016

Variations for Left Ventricular Noncompaction 1

ClinVar genetic disease variations for Left Ventricular Noncompaction 1:

6 (show top 50) (show all 105)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 DTNA NM_032978.7(DTNA):c.362C>T (p.Pro121Leu) SNV Pathogenic 8306 rs104894654 GRCh37: 18:32374214-32374214
GRCh38: 18:34794250-34794250
2 DTNA NM_032978.7(DTNA):c.146A>G (p.Asn49Ser) SNV Pathogenic 623092 rs775975702 GRCh37: 18:32346003-32346003
GRCh38: 18:34766039-34766039
3 DTNA NM_032978.7(DTNA):c.1207C>T (p.His403Tyr) SNV Conflicting interpretations of pathogenicity 46431 rs139872140 GRCh37: 18:32418752-32418752
GRCh38: 18:34838788-34838788
4 DTNA NM_032978.7(DTNA):c.177A>G (p.Ile59Met) SNV Conflicting interpretations of pathogenicity 374197 rs1057518968 GRCh37: 18:32374029-32374029
GRCh38: 18:34794065-34794065
5 DTNA NM_032978.7(DTNA):c.955A>G (p.Met319Val) SNV Conflicting interpretations of pathogenicity 191651 rs141981161 GRCh37: 18:32400833-32400833
GRCh38: 18:34820869-34820869
6 DTNA NM_032978.7(DTNA):c.*726dup Duplication Uncertain significance 326681 rs778058745 GRCh37: 18:32446839-32446840
GRCh38: 18:34866875-34866876
7 DTNA NM_032978.7(DTNA):c.603+3A>G SNV Uncertain significance 933598 GRCh37: 18:32392080-32392080
GRCh38: 18:34812116-34812116
8 DTNA NM_032978.7(DTNA):c.515G>A (p.Arg172Gln) SNV Uncertain significance 935064 GRCh37: 18:32391989-32391989
GRCh38: 18:34812025-34812025
9 DTNA NM_032978.7(DTNA):c.1443-6C>G SNV Uncertain significance 935688 GRCh37: 18:32438243-32438243
GRCh38: 18:34858279-34858279
10 DTNA NM_032978.7(DTNA):c.187C>G (p.Arg63Gly) SNV Uncertain significance 937546 GRCh37: 18:32374039-32374039
GRCh38: 18:34794075-34794075
11 DTNA NM_032978.7(DTNA):c.295A>G (p.Thr99Ala) SNV Uncertain significance 191648 rs200736432 GRCh37: 18:32374147-32374147
GRCh38: 18:34794183-34794183
12 DTNA NM_032978.7(DTNA):c.433A>T (p.Met145Leu) SNV Uncertain significance 943819 GRCh37: 18:32386253-32386253
GRCh38: 18:34806289-34806289
13 DTNA NM_032978.7(DTNA):c.969G>C (p.Gln323His) SNV Uncertain significance 944756 GRCh37: 18:32400847-32400847
GRCh38: 18:34820883-34820883
14 DTNA NM_032978.7(DTNA):c.1170G>T (p.Gln390His) SNV Uncertain significance 947771 GRCh37: 18:32418715-32418715
GRCh38: 18:34838751-34838751
15 DTNA NM_032978.7(DTNA):c.604-7T>A SNV Uncertain significance 952033 GRCh37: 18:32395866-32395866
GRCh38: 18:34815902-34815902
16 DTNA NM_032978.7(DTNA):c.481G>A (p.Val161Met) SNV Uncertain significance 953555 GRCh37: 18:32391955-32391955
GRCh38: 18:34811991-34811991
17 DTNA NM_032978.7(DTNA):c.842G>A (p.Ser281Asn) SNV Uncertain significance 965191 GRCh37: 18:32398260-32398260
GRCh38: 18:34818296-34818296
18 DTNA NM_032975.4(DTNA):c.1020A>C (p.Arg340Ser) SNV Uncertain significance 999834 GRCh37: 18:32407566-32407566
GRCh38: 18:34827602-34827602
19 DTNA NM_032975.4(DTNA):c.894G>T (p.Lys298Asn) SNV Uncertain significance 999841 GRCh37: 18:32400772-32400772
GRCh38: 18:34820808-34820808
20 DTNA NM_032975.4(DTNA):c.1037A>T (p.Asn346Ile) SNV Uncertain significance 1002442 GRCh37: 18:32407583-32407583
GRCh38: 18:34827619-34827619
21 DTNA NM_032975.4(DTNA):c.1095-1G>A SNV Uncertain significance 1004534 GRCh37: 18:32428259-32428259
GRCh38: 18:34848295-34848295
22 DTNA NM_032975.4(DTNA):c.1100T>C (p.Leu367Pro) SNV Uncertain significance 1016789 GRCh37: 18:32428265-32428265
GRCh38: 18:34848301-34848301
23 DTNA NM_032975.4(DTNA):c.938G>A (p.Arg313His) SNV Uncertain significance 1017955 GRCh37: 18:32400816-32400816
GRCh38: 18:34820852-34820852
24 DTNA NM_032975.4(DTNA):c.154C>G (p.Leu52Val) SNV Uncertain significance 1022023 GRCh37: 18:32374006-32374006
GRCh38: 18:34794042-34794042
25 DTNA NM_001386795.1(DTNA):c.604-10T>C SNV Uncertain significance 1033425 GRCh37: 18:32395863-32395863
GRCh38: 18:34815899-34815899
26 DTNA NM_001386795.1(DTNA):c.322A>G (p.Ile108Val) SNV Uncertain significance 1034422 GRCh37: 18:32374174-32374174
GRCh38: 18:34794210-34794210
27 DTNA NM_001386795.1(DTNA):c.232G>A (p.Val78Met) SNV Uncertain significance 1035846 GRCh37: 18:32374084-32374084
GRCh38: 18:34794120-34794120
28 DTNA NM_001386795.1(DTNA):c.872_875dup (p.Trp292fs) Duplication Uncertain significance 1041769 GRCh37: 18:32398289-32398290
GRCh38: 18:34818325-34818326
29 DTNA NM_001386795.1(DTNA):c.1270A>G (p.Asn424Asp) SNV Uncertain significance 1046431 GRCh37: 18:32418725-32418725
GRCh38: 18:34838761-34838761
30 DTNA NM_032978.7(DTNA):c.784C>T (p.His262Tyr) SNV Uncertain significance 201766 rs369043538 GRCh37: 18:32398202-32398202
GRCh38: 18:34818238-34818238
31 DTNA NM_032978.7(DTNA):c.879A>G (p.Lys293=) SNV Uncertain significance 834917 GRCh37: 18:32400757-32400757
GRCh38: 18:34820793-34820793
32 DTNA NM_032978.7(DTNA):c.86G>A (p.Arg29His) SNV Uncertain significance 837704 GRCh37: 18:32345943-32345943
GRCh38: 18:34765979-34765979
33 DTNA NM_032978.7(DTNA):c.1240C>T (p.Arg414Trp) SNV Uncertain significance 180346 rs199867593 GRCh37: 18:32418785-32418785
GRCh38: 18:34838821-34838821
34 DTNA NM_032978.7(DTNA):c.1199C>T (p.Ala400Val) SNV Uncertain significance 568642 rs375890182 GRCh37: 18:32418744-32418744
GRCh38: 18:34838780-34838780
35 DTNA NM_032978.7(DTNA):c.506A>G (p.Gln169Arg) SNV Uncertain significance 569675 rs201674479 GRCh37: 18:32391980-32391980
GRCh38: 18:34812016-34812016
36 DTNA NM_032978.7(DTNA):c.869C>T (p.Thr290Met) SNV Uncertain significance 426774 rs747834756 GRCh37: 18:32398287-32398287
GRCh38: 18:34818323-34818323
37 DTNA NM_032978.7(DTNA):c.482T>C (p.Val161Ala) SNV Uncertain significance 579329 rs199960642 GRCh37: 18:32391956-32391956
GRCh38: 18:34811992-34811992
38 DTNA NM_032978.7(DTNA):c.1307G>C (p.Arg436Thr) SNV Uncertain significance 579462 rs762579551 GRCh37: 18:32428310-32428310
GRCh38: 18:34848346-34848346
39 DTNA NM_032978.7(DTNA):c.642G>A (p.Met214Ile) SNV Uncertain significance 583209 rs745752400 GRCh37: 18:32395911-32395911
GRCh38: 18:34815947-34815947
40 DTNA NM_032978.7(DTNA):c.1394C>T (p.Ala465Val) SNV Uncertain significance 639120 rs760288717 GRCh37: 18:32431844-32431844
GRCh38: 18:34851880-34851880
41 DTNA NM_032978.7(DTNA):c.188G>A (p.Arg63Gln) SNV Uncertain significance 640747 rs766420415 GRCh37: 18:32374040-32374040
GRCh38: 18:34794076-34794076
42 DTNA NM_032978.7(DTNA):c.1508A>G (p.Glu503Gly) SNV Uncertain significance 641320 rs546897344 GRCh37: 18:32438314-32438314
GRCh38: 18:34858350-34858350
43 DTNA NM_032978.7(DTNA):c.1547G>A (p.Arg516Gln) SNV Uncertain significance 652072 rs773504046 GRCh37: 18:32438353-32438353
GRCh38: 18:34858389-34858389
44 DTNA NM_032978.7(DTNA):c.1259T>C (p.Met420Thr) SNV Uncertain significance 652528 rs956944215 GRCh37: 18:32428262-32428262
GRCh38: 18:34848298-34848298
45 DTNA NM_032978.7(DTNA):c.1562G>A (p.Arg521His) SNV Uncertain significance 191652 rs142108185 GRCh37: 18:32443935-32443935
GRCh38: 18:34863971-34863971
46 DTNA NM_032978.7(DTNA):c.614C>T (p.Thr205Met) SNV Uncertain significance 201765 rs201071018 GRCh37: 18:32395883-32395883
GRCh38: 18:34815919-34815919
47 DTNA NM_032978.7(DTNA):c.1129G>T (p.Ala377Ser) SNV Uncertain significance 222593 rs760958673 GRCh37: 18:32418101-32418101
GRCh38: 18:34838137-34838137
48 DTNA NM_032978.7(DTNA):c.1606C>T (p.Arg536Trp) SNV Uncertain significance 659419 rs1173408567 GRCh37: 18:32443979-32443979
GRCh38: 18:34864015-34864015
49 DTNA NM_032978.7(DTNA):c.1618A>G (p.Met540Val) SNV Uncertain significance 665135 rs1250288261 GRCh37: 18:32443991-32443991
GRCh38: 18:34864027-34864027
50 MYPN NM_032578.4(MYPN):c.2465G>A (p.Arg822Gln) SNV Uncertain significance 574808 rs372903698 GRCh37: 10:69934314-69934314
GRCh38: 10:68174557-68174557

Expression for Left Ventricular Noncompaction 1

Search GEO for disease gene expression data for Left Ventricular Noncompaction 1.

Pathways for Left Ventricular Noncompaction 1

GO Terms for Left Ventricular Noncompaction 1

Cellular components related to Left Ventricular Noncompaction 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 10.03 SCN5A PKP2 MYPN MYH6 LDB3 JUP
2 adherens junction GO:0005912 9.5 PKP2 LDB3 JUP
3 stress fiber GO:0001725 9.48 MYH6 LDB3
4 lateral plasma membrane GO:0016328 9.46 SCN5A JUP
5 cornified envelope GO:0001533 9.4 PKP2 JUP
6 desmosome GO:0030057 9.37 PKP2 JUP
7 sarcomere GO:0030017 9.33 MYPN MYH6 ACTN2
8 pseudopodium GO:0031143 9.26 LDB3 ACTN2
9 intercalated disc GO:0014704 9.13 SCN5A PKP2 JUP
10 Z disc GO:0030018 9.1 SCN5A MYPN MYH6 LDB3 JUP ACTN2

Biological processes related to Left Ventricular Noncompaction 1 according to GeneCards Suite gene sharing:

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 cell adhesion GO:0007155 9.81 PKP2 MYPN JUP ACTN2
2 protein localization to plasma membrane GO:0072659 9.65 PKP2 JUP ACTN2
3 cardiac muscle contraction GO:0060048 9.55 SCN5A MYH6
4 muscle filament sliding GO:0030049 9.54 MYH6 ACTN2
5 regulation of heart rate GO:0002027 9.52 SCN5A MYH6
6 ventricular cardiac muscle tissue morphogenesis GO:0055010 9.49 PKP2 MYH6
7 ventricular cardiac muscle cell action potential GO:0086005 9.46 SCN5A PKP2
8 cardiac muscle cell action potential involved in contraction GO:0086002 9.43 SCN5A PKP2
9 positive regulation of sodium ion transport GO:0010765 9.4 SCN5A PKP2
10 striated muscle contraction GO:0006941 9.37 MYH6 DTNA
11 regulation of ventricular cardiac muscle cell action potential GO:0098911 9.32 PKP2 JUP
12 bundle of His cell-Purkinje myocyte adhesion involved in cell communication GO:0086073 9.26 PKP2 JUP
13 desmosome assembly GO:0002159 9.16 PKP2 JUP
14 regulation of heart rate by cardiac conduction GO:0086091 9.13 SCN5A PKP2 JUP
15 sarcomere organization GO:0045214 8.92 MYPN MYH6 LDB3 ACTN2

Molecular functions related to Left Ventricular Noncompaction 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ion channel binding GO:0044325 9.5 SCN5A PKP2 ACTN2
2 actin binding GO:0003779 9.46 MYPN MYH6 LDB3 ACTN2
3 protein kinase C binding GO:0005080 9.4 PKP2 LDB3
4 muscle alpha-actinin binding GO:0051371 9.37 MYPN LDB3
5 alpha-catenin binding GO:0045294 9.26 PKP2 JUP
6 cytoskeletal protein binding GO:0008092 9.13 MYPN LDB3 ACTN2
7 cell adhesive protein binding involved in bundle of His cell-Purkinje myocyte communication GO:0086083 8.62 PKP2 JUP

Sources for Left Ventricular Noncompaction 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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