Long Qt Syndrome 15 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

LQT15 MCID: LNG096 MIFTS: 37	Long Qt Syndrome 15 (LQT15) Categories: Blood diseases, Cardiovascular diseases, Genetic diseases, Rare diseases
Genes Variations Tissues Related diseases Pathways Symptoms & Phenotypes Expand all tables

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Aliases & Classifications for Long Qt Syndrome 15

MalaCards integrated aliases for Long Qt Syndrome 15:

Name: Long Qt Syndrome 15 ⁵⁸ ¹² ⁷⁶ ³⁰ ⁶ ¹⁵ ⁷⁴

Lqt15 ⁵⁸ ¹² ⁷⁶

Long Qt Syndrome, Type 15 ⁴¹

Characteristics:

OMIM:

⁵⁸

Inheritance:
autosomal dominant

Miscellaneous:
onset at birth or in early childhood

HPO:

³³

long qt syndrome 15:
Inheritance autosomal dominant inheritance

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Cardiovascular diseases Blood diseases

See all MalaCards categories (disease lists)

ICD10: ³⁴

Diseases of the circulatory system

Other forms of heart disease

Other conduction disorders

Other specified conduction disorders

External Ids:

Disease Ontology ¹² DOID:0110656

OMIM ⁵⁸ 616249

MeSH ⁴⁵ D008133

ICD10 ³⁴ I45.8

MedGen ⁴³ C4015695 CN228134

SNOMED-CT via HPO ⁷⁰ 263681008 397829000 410429000 more

UMLS ⁷⁴ C4015695

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Summaries for Long Qt Syndrome 15

UniProtKB/Swiss-Prot : ⁷⁶ Long QT syndrome 15: A form of long QT syndrome, a heart disorder characterized by a prolonged QT interval on the ECG and polymorphic ventricular arrhythmias. They cause syncope and sudden death in response to exercise or emotional stress, and can present with a sentinel event of sudden cardiac death in infancy.

MalaCards based summary : Long Qt Syndrome 15, also known as lqt15, is related to long qt syndrome 1 and long qt syndrome. An important gene associated with Long Qt Syndrome 15 is CALM2 (Calmodulin 2), and among its related pathways/superpathways are Immune response Fc epsilon RI pathway and Development Dopamine D2 receptor transactivation of EGFR. Affiliated tissues include heart, and related phenotypes are cardiac arrest and bradycardia

Disease Ontology : ¹² A long QT syndrome that has material basis in dominant inheritance of mutation in the CALM2 gene on chromosome 2p21.

Description from OMIM: 616249

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Related Diseases for Long Qt Syndrome 15

Diseases in the Long Qt Syndrome family:

Long Qt Syndrome 1	Long Qt Syndrome 3
Long Qt Syndrome 9	Long Qt Syndrome 10
Long Qt Syndrome 11	Long Qt Syndrome 12
Long Qt Syndrome 13	Long Qt Syndrome 2
Long Qt Syndrome 6	Long Qt Syndrome 5
Long Qt Syndrome 14	Long Qt Syndrome 15

Diseases related to Long Qt Syndrome 15 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 26)

#	Related Disease	Score	Top Affiliating Genes
1	long qt syndrome 1	9.9	CALM1 CALM2
2	long qt syndrome	9.9	CALM1 CALM2
3	otomycosis	9.9	CALM1 CALM2
4	external ear disease	9.9	CALM1 CALM2
5	emery-dreifuss muscular dystrophy 5, autosomal dominant	9.9	CALM1 CALM2
6	sporotrichosis	9.9	CALM1 CALM2
7	otitis externa	9.9	CALM1 CALM2
8	spontaneous ocular nystagmus	9.9	CALM1 CALM2
9	deafness, autosomal recessive 44	9.9	CALM1 CALM2
10	acute dacryocystitis	9.9	CALM1 CALM2
11	dystonia 24	9.9	CALM1 CALM2
12	gestational choriocarcinoma	9.8	CALM1 CALM2
13	triosephosphate isomerase deficiency	9.8	CALM1 CALM2
14	leber congenital amaurosis 2	9.8	CALM1 CALM2
15	tinea unguium	9.8	CALM1 CALM2
16	primary systemic mycosis	9.8	CALM1 CALM2
17	clear cell acanthoma	9.8	CALM1 CALM2
18	cardiomyopathy, dilated, 1a	9.8	CALM1 CALM2
19	cardiomyopathy, dilated, 1p	9.8	CALM1 CALM2
20	phaeohyphomycosis	9.8	CALM1 CALM2
21	deafness, autosomal dominant 2a	9.8	CALM1 CALM2
22	microcephaly 2, primary, autosomal recessive, with or without cortical malformations	9.7	CALM1 CALM2
23	ceroid lipofuscinosis, neuronal, 11	9.7	CALM1 CALM2
24	primary cutaneous amyloidosis	9.7	CALM1 CALM2
25	catecholaminergic polymorphic ventricular tachycardia	9.6	CALM1 CALM2
26	cardiac arrest	9.5	CALM1 CALM2

Graphical network of the top 20 diseases related to Long Qt Syndrome 15:

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Symptoms & Phenotypes for Long Qt Syndrome 15

Human phenotypes related to Long Qt Syndrome 15:

³³

#	Description	HPO Frequency	HPO Source Accession
1	cardiac arrest ³³	occasional (7.5%)	HP:0001695
2	bradycardia ³³	occasional (7.5%)	HP:0001662
3	ventricular fibrillation ³³		HP:0001663
4	prolonged qtc interval ³³		HP:0005184

Symptoms via clinical synopsis from OMIM:

⁵⁸

Cardiovascular Heart:
cardiac arrest (in some patients)
bradycardia (in some patients)
recurrent episodes of ventricular fibrillation
sudden death (in some patients) prolonged qtc interval on electrocardiogram (ecg)
notched t waves on ecg (in some patients)
more

Prenatal Manifestations:
fetal bradycardia (in some patients)

Clinical features from OMIM:

616249

GenomeRNAi Phenotypes related to Long Qt Syndrome 15 according to GeneCards Suite gene sharing:

²⁷

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Decreased viability	GR00173-A	9.36	CALM2
2	Decreased viability	GR00221-A-1	9.36	CALM2
3	Decreased viability	GR00221-A-2	9.36	CALM1 CALM2
4	Decreased viability	GR00221-A-3	9.36	CALM1
5	Decreased viability	GR00221-A-4	9.36	CALM1 CALM2
6	Decreased viability	GR00301-A	9.36	CALM1 CALM2
7	Decreased viability	GR00402-S-2	9.36	CALM1 CALM2

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Drugs & Therapeutics for Long Qt Syndrome 15

Search Clinical Trials , NIH Clinical Center for Long Qt Syndrome 15

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Genetic Tests for Long Qt Syndrome 15

Genetic tests related to Long Qt Syndrome 15:

#	Genetic test	Affiliating Genes
1	Long Qt Syndrome 15 ³⁰	CALM2

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Anatomical Context for Long Qt Syndrome 15

MalaCards organs/tissues related to Long Qt Syndrome 15:

⁴²

Heart

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Publications for Long Qt Syndrome 15

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Genes for Long Qt Syndrome 15

Genes related to Long Qt Syndrome 15 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	CALM2	Calmodulin 2	Protein Coding	1336.01	Molecular basis known ⁵⁸ Pathogenic ⁶ Causative variation ⁷⁶ Genetic Tests ³⁰ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Variants (show sections)	23388215 20301308 24917665
2	CALM1	Calmodulin 1	Protein Coding	16.46	DISEASES inferred ¹⁵

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Variations for Long Qt Syndrome 15

UniProtKB/Swiss-Prot genetic disease variations for Long Qt Syndrome 15:

⁷⁶

#	Symbol	AA change	Variation ID	SNP ID
1	CALM2	p.Asp96Val	VAR_073276	rs730882254
2	CALM2	p.Asn98Ile	VAR_073277	rs398124647
3	CALM2	p.Asp132Glu	VAR_073279	rs398124648
4	CALM2	p.Asp134His	VAR_073280	rs398124650
5	CALM2	p.Gln136Pro	VAR_073281	rs398124649
6	CALM2	p.Asp130Val	VAR_078262
7	CALM2	p.Asn98Ser	VAR_078543	rs398124647
8	CALM2	p.Asp130Gly	VAR_078544	rs730882252

ClinVar genetic disease variations for Long Qt Syndrome 15:

⁶ (show all 16)

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	CALM2	NM_001305625.1(CALM2): c.179A> T (p.Asp60Val)	single nucleotide variant	Pathogenic	rs730882254	GRCh37	Chromosome 2, 47388996: 47388996
2	CALM2	NM_001305625.1(CALM2): c.179A> T (p.Asp60Val)	single nucleotide variant	Pathogenic	rs730882254	GRCh38	Chromosome 2, 47161857: 47161857
3	CALM2	NM_001743.5(CALM2): c.293A> G (p.Asn98Ser)	single nucleotide variant	Pathogenic/Likely pathogenic	rs398124647	GRCh37	Chromosome 2, 47388990: 47388990
4	CALM2	NM_001743.5(CALM2): c.293A> G (p.Asn98Ser)	single nucleotide variant	Pathogenic/Likely pathogenic	rs398124647	GRCh38	Chromosome 2, 47161851: 47161851
5	CALM2	NM_001743.5(CALM2): c.293A> T (p.Asn98Ile)	single nucleotide variant	Pathogenic/Likely pathogenic	rs398124647	GRCh37	Chromosome 2, 47388990: 47388990
6	CALM2	NM_001743.5(CALM2): c.293A> T (p.Asn98Ile)	single nucleotide variant	Pathogenic/Likely pathogenic	rs398124647	GRCh38	Chromosome 2, 47161851: 47161851
7	CALM2	NM_001743.5(CALM2): c.396T> G (p.Asp132Glu)	single nucleotide variant	Pathogenic/Likely pathogenic	rs398124648	GRCh37	Chromosome 2, 47388887: 47388887
8	CALM2	NM_001743.5(CALM2): c.396T> G (p.Asp132Glu)	single nucleotide variant	Pathogenic/Likely pathogenic	rs398124648	GRCh38	Chromosome 2, 47161748: 47161748
9	CALM2	NM_001743.5(CALM2): c.400G> C (p.Asp134His)	single nucleotide variant	Pathogenic/Likely pathogenic	rs398124650	GRCh37	Chromosome 2, 47388883: 47388883
10	CALM2	NM_001743.5(CALM2): c.400G> C (p.Asp134His)	single nucleotide variant	Pathogenic/Likely pathogenic	rs398124650	GRCh38	Chromosome 2, 47161744: 47161744
11	CALM2	NM_001743.5(CALM2): c.407A> C (p.Gln136Pro)	single nucleotide variant	Pathogenic/Likely pathogenic	rs398124649	GRCh37	Chromosome 2, 47388876: 47388876
12	CALM2	NM_001743.5(CALM2): c.407A> C (p.Gln136Pro)	single nucleotide variant	Pathogenic/Likely pathogenic	rs398124649	GRCh38	Chromosome 2, 47161737: 47161737
13	CALM2	NM_001743.5(CALM2): c.400G> A (p.Asp134Asn)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs398124650	GRCh37	Chromosome 2, 47388883: 47388883
14	CALM2	NM_001743.5(CALM2): c.400G> A (p.Asp134Asn)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs398124650	GRCh38	Chromosome 2, 47161744: 47161744
15	CALM2	NM_001305625.1(CALM2): c.306C> G (p.Asn102Lys)	single nucleotide variant	Pathogenic	rs1553431702	GRCh37	Chromosome 2, 47388869: 47388869
16	CALM2	NM_001305625.1(CALM2): c.306C> G (p.Asn102Lys)	single nucleotide variant	Pathogenic	rs1553431702	GRCh38	Chromosome 2, 47161730: 47161730

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Expression for Long Qt Syndrome 15

Search GEO for disease gene expression data for Long Qt Syndrome 15.

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Pathways for Long Qt Syndrome 15

Pathways related to Long Qt Syndrome 15 according to GeneCards Suite gene sharing:

(show top 50) (show all 83)

#	Super pathways	Score	Top Affiliating Genes
1	Immune response Fc epsilon RI pathway ²³ Show member pathways Fc epsilon RI signaling pathway ³⁸ Fc-epsilon receptor I signaling in mast cells ¹ Immune response BCR pathway ²³ VEGF signaling pathway ³⁸	12.29	CALM1 CALM2
2	Development Dopamine D2 receptor transactivation of EGFR ²³ Show member pathways Apoptosis and survival BAD phosphorylation ²³ BAD Phosphorylation ⁶⁵ Chemotaxis CXCR4 signaling pathway ²³ Development Alpha-2 adrenergic receptor activation of ERK ²³	12.28	CALM1 CALM2
3	ADP signalling through P2Y purinoceptor 12 ⁶⁷ Show member pathways Adrenaline,noradrenaline inhibits insulin secretion ⁶⁷ Beta-agonist/Beta-blocker Pathway, Pharmacodynamics ⁶² Cooperation of PDCL (PhLP1) and TRiC/CCT in G-protein beta folding ⁶⁷ G alpha (z) signalling events ⁶⁷ G-protein activation ⁶⁷ Signal transduction cAMP signaling ²³	12.26	CALM1 CALM2
4	Ion channel transport ⁶⁷ Show member pathways Stimuli-sensing channels ⁶⁷	12.25	CALM1 CALM2
5	Myometrial Relaxation and Contraction Pathways ¹ Show member pathways Calcium Regulation in the Cardiac Cell ¹	12.24	CALM1 CALM2
6	Immune response Role of DAP12 receptors in NK cells ²³ Show member pathways Immune response CD16 signaling in NK cells ²³ Natural killer cell mediated cytotoxicity ³⁸	12.23	CALM1 CALM2
7	DREAM Repression and Dynorphin Expression ⁶⁵ Show member pathways BMP Pathway ⁶⁵ Caspase Cascade ⁶⁵ Depolarization of the Presynaptic Terminal Triggers the Opening of Calcium Channels ⁶⁷ nNOS Signaling in Skeletal Muscle ⁶⁵ TOB in Osteoblast Signaling ⁶⁵	12.21	CALM1 CALM2
8	Aquaporin-mediated transport ⁶⁷ Show member pathways Cytoskeleton remodeling Role of PKA in cytoskeleton reorganisation ²³ Glucagon signaling in metabolic regulation ⁶⁷ Glucagon-like Peptide-1 (GLP1) regulates insulin secretion ⁶⁷ Passive transport by Aquaporins ⁶⁷ Transport of glycerol from adipocytes to the liver by Aquaporins ⁶⁷ Vasopressin regulates renal water homeostasis via Aquaporins ⁶⁷	12.16	CALM1 CALM2
9	CLEC7A (Dectin-1) signaling ⁶⁷ Show member pathways Alternative NF-kappaB pathway ¹ CLEC7A/inflammasome pathway ⁶⁷ C-type lectin receptors (CLRs) ⁶⁷	12.16	CALM1 CALM2
10	T cell receptor signaling pathway ³⁸ Show member pathways T-Cell antigen Receptor (TCR) Signaling Pathway ¹ T-Cell antigen Receptor (TCR) pathway during Staphylococcus aureus infection ¹	12.15	CALM1 CALM2
11	Presynaptic function of Kainate receptors ⁶⁷ Show member pathways Activation of Ca-permeable Kainate Receptor ⁶⁷ Activation of Kainate Receptors upon glutamate binding ⁶⁷ Activation of Na-permeable Kainate Receptors ⁶⁷ Calcitonin-like ligand receptors ⁶⁷ Class B/2 (Secretin family receptors) ⁶⁷ G beta-gamma signalling through PLC beta ⁶⁷ Glucagon-type ligand receptors ⁶⁷ G-Protein Signaling through Tubby Protein ⁶⁵ Ionotropic activity of Kainate Receptors ⁶⁷	12.14	CALM1 CALM2
12	Semaphorin interactions ⁶⁷ Show member pathways CRMPs in Sema3A signaling ⁶⁷ Inhibition of Ribosome Biogenesis by p19(ARF) ⁶⁵ Other semaphorin interactions ⁶⁷ RHO GTPases activate CIT ⁶⁷ RHO GTPases activate PAKs ⁶⁷ RHO GTPases Activate ROCKs ⁶⁷ Sema3A PAK dependent Axon repulsion ⁶⁷ SEMA3A-Plexin repulsion signaling by inhibiting Integrin adhesion ⁶⁷ Sema4D in semaphorin signaling ⁶⁷ Sema4D induced cell migration and growth-cone collapse ⁶⁷ Sema4D mediated inhibition of cell attachment and migration ⁶⁷	12.14	CALM1 CALM2
13	RhoGDI Pathway ⁶⁵ Show member pathways Fc-GammaR-Mediated Phagocytosis in Macrophages ⁶⁵	12.12	CALM1 CALM2
14	ICos-ICosL Pathway in T-Helper Cell ⁶⁵ Show member pathways Calcium Mediated T-Cell Apoptosis ⁶⁵ CD28 Signaling in T-Helper Cell ⁶⁵	12.12	CALM1 CALM2
15	B cell receptor signaling pathway (KEGG) ³⁸ Show member pathways B Cell Receptor Signaling Pathway ¹ BCR signaling pathway ¹	12.11	CALM1 CALM2
16	Dopamine-DARPP32 Feedback onto cAMP Pathway ⁶⁵	12.09	CALM1 CALM2
17	Oocyte meiosis ³⁸ Show member pathways Progesterone-mediated oocyte maturation ³⁸	12.08	CALM1 CALM2
18	Immune response CCR3 signaling in eosinophils ²³ Show member pathways Inhibitory action of Lipoxins on neutrophil migration ²³	12.07	CALM1 CALM2
19	Metabolism of fat-soluble vitamins ⁶⁷ Show member pathways Metabolism of vitamin K ⁶⁷ Retinoid metabolism and transport ⁶⁷ The retinoid cycle in cones (daylight vision) ⁶⁷ Visual phototransduction ⁶⁷ Vitamin D (calciferol) metabolism ⁶⁷	12.06	CALM1 CALM2
20	B Cell Receptor Signaling Pathway (sino) ⁶⁸ Show member pathways B Cell Receptor Signaling Pathway ⁶⁸	12.06	CALM1 CALM2
21	Development Ligand-independent activation of ESR1 and ESR2 ²³ Show member pathways Transcription CREB pathway ²³ Transcription PPAR Pathway ²³	12.05	CALM1 CALM2
22	cAMP signaling pathway ³⁸	12.05	CALM1 CALM2
23	Toll Comparative Pathway ⁶⁵ Show member pathways IL-1 Pathway ⁶⁵ Immune response MIF in innate immunity response ²³ iNOS Signaling ⁶⁵ TLR-TRIF Pathway ⁶⁵	12.04	CALM1 CALM2
24	Platelet homeostasis ⁶⁷ Show member pathways Elevation of cytosolic Ca2+ levels ⁶⁷ Platelet calcium homeostasis ⁶⁷ Platelet sensitization by LDL ⁶⁷ Prostacyclin signalling through prostacyclin receptor ⁶⁷ Reduction of cytosolic Ca++ levels ⁶⁷	12	CALM1 CALM2
25	Calcium signaling pathway ³⁸	11.99	CALM1 CALM2
26	Post NMDA receptor activation events ⁶⁷ Show member pathways Activation of CaMK IV ⁶⁷ Activation of NMDA receptor upon glutamate binding and postsynaptic events ⁶⁷ CaMK IV-mediated phosphorylation of CREB ⁶⁷ CREB phosphorylation through the activation of CaMKII ⁶⁷ CREB phosphorylation through the activation of CaMKK ⁶⁷ CREB phosphorylation through the activation of Ras ⁶⁷ Ras activation uopn Ca2+ infux through NMDA receptor ⁶⁷ RSK activation ⁶⁷ Unblocking of NMDA receptor, glutamate binding and activation ⁶⁷	11.97	CALM1 CALM2
27	Tuberculosis ³⁸	11.96	CALM1 CALM2
28	CD28 co-stimulation ⁶⁷ Show member pathways Activation of AKT2 ⁶⁷ CD28 dependent PI3K/Akt signaling ⁶⁷ CD28 dependent Vav1 pathway ⁶⁷ Costimulation by the CD28 family ⁶⁷ VEGFR2 mediated vascular permeability ⁶⁷	11.95	CALM1 CALM2
29	C-type lectin receptor signaling pathway ³⁸ Show member pathways Pathogen or Damage-activated C-Type Lectin Receptor Signaling Pathways ⁶⁶	11.95	CALM1 CALM2
30	Long-term potentiation ³⁸ Show member pathways Common Pathways Underlying Drug Addiction ¹ Dopamine D1-Like Receptor Family Signaling Pathways ⁶⁶	11.93	CALM1 CALM2
31	Salivary secretion ³⁸ Show member pathways Gastric acid secretion ³⁸	11.92	CALM1 CALM2
32	ADP signalling through P2Y purinoceptor 1 ⁶⁷ Show member pathways Development Angiotensin signaling via beta-Arrestin ²³ Signal amplification ⁶⁷ Thrombin signalling through proteinase activated receptors (PARs) ⁶⁷ Thromboxane signalling through TP receptor ⁶⁷	11.9	CALM1 CALM2
33	Cellular senescence (KEGG) ³⁸	11.9	CALM1 CALM2
34	MicroRNAs in cardiomyocyte hypertrophy ¹ Show member pathways Cardiac Hypertrophic Response ¹	11.9	CALM1 CALM2
35	Phototransduction ³⁸ Show member pathways Activation of the phototransduction cascade ⁶⁷ Inactivation, recovery and regulation of the phototransduction cascade ⁶⁷ The phototransduction cascade ⁶⁷ Visual signal transduction- Cones ¹ Visual signal transduction- Rods ¹	11.89	CALM1 CALM2
36	Immune response Function of MEF2 in T lymphocytes ²³ Show member pathways Development Role of HDAC and calcium/calmodulin-dependent kinase (CaMK) in control of skeletal myogenesis ²³	11.86	CALM1 CALM2
37	Fluid shear stress and atherosclerosis ³⁸	11.83	CALM1 CALM2
38	Apelin signaling pathway ³⁸	11.82	CALM1 CALM2
39	Immune response IFN gamma signaling pathway ²³ Show member pathways IFN-gamma pathway ¹	11.77	CALM1 CALM2
40	Translation Translation regulation by Alpha-1 adrenergic receptors ²³ Show member pathways Development Activation of ERK by Alpha-1 adrenergic receptors ²³	11.76	CALM1 CALM2
41	Amphetamine addiction ³⁸ Show member pathways Cocaine addiction ³⁸	11.74	CALM1 CALM2
42	Inositol phosphate metabolism ⁶⁷ Show member pathways D-myo-inositol (1,4,5,6)-tetrakisphosphate biosynthesis ¹ inositol pyrophosphates biosynthesis ¹ myo-inositol de novo biosynthesis ¹ Synthesis of IP2, IP, and Ins in the cytosol ⁶⁷ Synthesis of IP3 and IP4 in the cytosol ⁶⁷ Synthesis of IPs in the nucleus ⁶⁷ Synthesis of pyrophosphates in the cytosol ⁶⁷	11.72	CALM1 CALM2
43	Antigen activates B Cell Receptor (BCR) leading to generation of second messengers ⁶⁷ Show member pathways B-Cell Receptor Complex ⁶⁵ CD22 mediated BCR regulation ⁶⁷ CLEC7A (Dectin-1) induces NFAT activation ⁶⁷ FCERI mediated Ca+2 mobilization ⁶⁷	11.69	CALM1 CALM2
44	Glucagon signaling pathway ³⁸	11.67	CALM1 CALM2
45	ErbB1 downstream signaling ¹	11.66	CALM1 CALM2
46	Visual Cycle in Retinal Rods ⁶⁵	11.64	CALM1 CALM2
47	Development EPO-induced Jak-STAT pathway ²³ Show member pathways EPO Receptor Signaling ¹ EPO signaling pathway ¹	11.64	CALM1 CALM2
48	Signaling events mediated by VEGFR1 and VEGFR2 ¹ Show member pathways VEGFR1 specific signals ¹	11.61	CALM1 CALM2
49	Neurophysiological process Glutamate regulation of Dopamine D1A receptor signaling ²³ Show member pathways DARPP-32 events ⁶⁷	11.6	CALM1 CALM2
50	Uptake and actions of bacterial toxins ⁶⁷ Show member pathways Intestinal infectious diseases ⁶⁷ Neurotoxicity of clostridium toxins ⁶⁷ Toxicity of botulinum toxin type A (BoNT/A) ⁶⁷ Toxicity of botulinum toxin type B (BoNT/B) ⁶⁷ Toxicity of botulinum toxin type C (BoNT/C) ⁶⁷ Toxicity of botulinum toxin type E (BoNT/E) ⁶⁷ Toxicity of botulinum toxin type G (BoNT/G) ⁶⁷ Toxicity of tetanus toxin (TeNT) ⁶⁷ Uptake and function of anthrax toxins ⁶⁷ Uptake and function of diphtheria toxin ⁶⁷	11.54	CALM1 CALM2

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GO Terms for Long Qt Syndrome 15

Cellular components related to Long Qt Syndrome 15 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	spindle	GO:0005819	9.43	CALM1 CALM2
2	vesicle	GO:0031982	9.4	CALM1 CALM2
3	myelin sheath	GO:0043209	9.37	CALM1 CALM2
4	spindle pole	GO:0000922	9.32	CALM1 CALM2
5	sarcomere	GO:0030017	9.26	CALM1 CALM2
6	spindle microtubule	GO:0005876	9.16	CALM1 CALM2
7	calcium channel complex	GO:0034704	8.96	CALM1 CALM2
8	catalytic complex	GO:1902494	8.62	CALM1 CALM2

Biological processes related to Long Qt Syndrome 15 according to GeneCards Suite gene sharing:

(show all 20)

#	Name	GO ID	Score	Top Affiliating Genes
1	calcium-mediated signaling	GO:0019722	9.59	CALM1 CALM2
2	response to calcium ion	GO:0051592	9.58	CALM1 CALM2
3	positive regulation of protein serine/threonine kinase activity	GO:0071902	9.58	CALM1 CALM2
4	substantia nigra development	GO:0021762	9.57	CALM1 CALM2
5	regulation of cytokinesis	GO:0032465	9.56	CALM1 CALM2
6	regulation of heart rate	GO:0002027	9.55	CALM1 CALM2
7	positive regulation of peptidyl-threonine phosphorylation	GO:0010800	9.54	CALM1 CALM2
8	positive regulation of protein dephosphorylation	GO:0035307	9.52	CALM1 CALM2
9	positive regulation of protein autophosphorylation	GO:0031954	9.51	CALM1 CALM2
10	regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion	GO:0010881	9.49	CALM1 CALM2
11	regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum	GO:0010880	9.48	CALM1 CALM2
12	regulation of cardiac muscle contraction	GO:0055117	9.46	CALM1 CALM2
13	negative regulation of peptidyl-threonine phosphorylation	GO:0010801	9.43	CALM1 CALM2
14	positive regulation of phosphoprotein phosphatase activity	GO:0032516	9.4	CALM1 CALM2
15	detection of calcium ion	GO:0005513	9.37	CALM1 CALM2
16	negative regulation of ryanodine-sensitive calcium-release channel activity	GO:0060315	9.32	CALM1 CALM2
17	positive regulation of ryanodine-sensitive calcium-release channel activity	GO:0060316	9.26	CALM1 CALM2
18	regulation of cell communication by electrical coupling involved in cardiac conduction	GO:1901844	9.16	CALM1 CALM2
19	positive regulation of cyclic-nucleotide phosphodiesterase activity	GO:0051343	8.96	CALM1 CALM2
20	positive regulation by host of symbiont cAMP-mediated signal transduction	GO:0075206	8.62	CALM1 CALM2

Molecular functions related to Long Qt Syndrome 15 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	protein domain specific binding	GO:0019904	9.48	CALM1 CALM2
2	ion channel binding	GO:0044325	9.46	CALM1 CALM2
3	disordered domain specific binding	GO:0097718	9.43	CALM1 CALM2
4	protein serine/threonine kinase activator activity	GO:0043539	9.4	CALM1 CALM2
5	titin binding	GO:0031432	9.37	CALM1 CALM2
6	adenylate cyclase binding	GO:0008179	9.32	CALM1 CALM2
7	calcium channel inhibitor activity	GO:0019855	9.26	CALM1 CALM2
8	protein phosphatase activator activity	GO:0072542	9.16	CALM1 CALM2
9	adenylate cyclase activator activity	GO:0010856	8.96	CALM1 CALM2
10	N-terminal myristoylation domain binding	GO:0031997	8.62	CALM1 CALM2

Sources

Sources for Long Qt Syndrome 15

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FDA Approved Drugs

²⁰ FMA

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ Genetics Home Reference

²⁷ GenomeRNAi

²⁸ GEO DataSets

²⁹ GO

³⁰ GTR

³¹ HGMD

³² HMDB

³³ HPO

³⁴ ICD10

³⁵ ICD10 via Orphanet

³⁶ ICD9CM

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⁷⁷ Wikipedia

Long Qt Syndrome 15 (LQT15)

Aliases & Classifications for Long Qt Syndrome 15

MalaCards integrated aliases for Long Qt Syndrome 15:

Characteristics:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Long Qt Syndrome 15

Related Diseases for Long Qt Syndrome 15

Diseases in the Long Qt Syndrome family:

Diseases related to Long Qt Syndrome 15 via text searches within MalaCards or GeneCards Suite gene sharing:

Graphical network of the top 20 diseases related to Long Qt Syndrome 15:

Symptoms & Phenotypes for Long Qt Syndrome 15

Human phenotypes related to Long Qt Syndrome 15:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

GenomeRNAi Phenotypes related to Long Qt Syndrome 15 according to GeneCards Suite gene sharing:

Drugs & Therapeutics for Long Qt Syndrome 15

Genetic Tests for Long Qt Syndrome 15

Genetic tests related to Long Qt Syndrome 15:

Anatomical Context for Long Qt Syndrome 15

MalaCards organs/tissues related to Long Qt Syndrome 15:

Publications for Long Qt Syndrome 15

Genes for Long Qt Syndrome 15

Genes related to Long Qt Syndrome 15 (1 elite genes):

Variations for Long Qt Syndrome 15

UniProtKB/Swiss-Prot genetic disease variations for Long Qt Syndrome 15:

ClinVar genetic disease variations for Long Qt Syndrome 15:

Expression for Long Qt Syndrome 15

Pathways for Long Qt Syndrome 15

Pathways related to Long Qt Syndrome 15 according to GeneCards Suite gene sharing:

GO Terms for Long Qt Syndrome 15

Cellular components related to Long Qt Syndrome 15 according to GeneCards Suite gene sharing:

Biological processes related to Long Qt Syndrome 15 according to GeneCards Suite gene sharing:

Molecular functions related to Long Qt Syndrome 15 according to GeneCards Suite gene sharing:

Sources for Long Qt Syndrome 15