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

MCID: LNG096 MIFTS: 38	Long Qt Syndrome 15 Categories: Genetic diseases, Cardiovascular diseases, Rare diseases
Genes Variations Tissues Related diseases Pathways Symptoms & Phenotypes Download Expand all tables

Sources

Aliases & Classifications for Long Qt Syndrome 15

MalaCards integrated aliases for Long Qt Syndrome 15:

Name: Long Qt Syndrome 15 ⁵⁷ ¹² ⁷⁵ ²⁹ ⁶ ¹⁵ ⁷³

Lqt15 ⁵⁷ ¹² ⁷⁵

Long Qt Syndrome, Type 15 ⁴⁰

Characteristics:

OMIM:

⁵⁷

Inheritance:
autosomal dominant

Miscellaneous:
onset at birth or in early childhood

HPO:

³²

long qt syndrome 15:
Inheritance autosomal dominant inheritance

Classifications:

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

See all MalaCards categories (disease lists)

ICD10: ³³

Diseases of the circulatory system

Other forms of heart disease

Other conduction disorders

Other specified conduction disorders

External Ids:

OMIM ⁵⁷ 616249

Disease Ontology ¹² DOID:0110656

ICD10 ³³ I45.8

MedGen ⁴² C4015695 CN228134

MeSH ⁴⁴ D008133

SNOMED-CT via HPO ⁶⁹ 263681008 111975006 48867003 more

UMLS ⁷³ C4015695

Sources

Summaries for Long Qt Syndrome 15

UniProtKB/Swiss-Prot : ⁷⁵ 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 gestational choriocarcinoma and cardiac arrest. An important gene associated with Long Qt Syndrome 15 is CALM2 (Calmodulin 2), and among its related pathways/superpathways are Olfactory Signaling Pathway and DAG and IP3 signaling. Affiliated tissues include heart, and related phenotypes are prolonged qt interval and cardiac arrest

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

Sources

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 22)

#	Related Disease	Score	Top Affiliating Genes
1	gestational choriocarcinoma	9.3	CALM1 CALM3
2	cardiac arrest	9.2	CALM1 CALM3
3	acute dacryocystitis	9.1	CALM1 CALM2 CALM3
4	external ear disease	9.1	CALM1 CALM2 CALM3
5	otitis externa	9.1	CALM1 CALM2 CALM3
6	otomycosis	9.1	CALM1 CALM2 CALM3
7	spontaneous ocular nystagmus	9.1	CALM1 CALM2 CALM3
8	sporotrichosis	9.1	CALM1 CALM2 CALM3
9	deafness, autosomal recessive 44	9.1	CALM1 CALM2 CALM3
10	dystonia 24	9.1	CALM1 CALM2 CALM3
11	triosephosphate isomerase deficiency	9.1	CALM1 CALM2 CALM3
12	leber congenital amaurosis 2	9.0	CALM1 CALM2 CALM3
13	primary systemic mycosis	9.0	CALM1 CALM2 CALM3
14	clear cell acanthoma	9.0	CALM1 CALM2 CALM3
15	cardiomyopathy, dilated, 1a	9.0	CALM1 CALM2 CALM3
16	cardiomyopathy, dilated, 1p	9.0	CALM1 CALM2 CALM3
17	deafness, autosomal dominant 2a	8.9	CALM1 CALM2 CALM3
18	primary cutaneous amyloidosis	8.9	CALM1 CALM2 CALM3
19	catecholaminergic polymorphic ventricular tachycardia	8.9	CALM1 CALM2 CALM3
20	long qt syndrome	8.8	CALM1 CALM2 CALM3
21	long qt syndrome 1	8.4	CALM1 CALM2 CALM3 CD2AP
22	alzheimer disease	8.4	CALM1 CALM2 CALM3

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

Sources

Symptoms & Phenotypes for Long Qt Syndrome 15

Symptoms via clinical synopsis from OMIM:

⁵⁷

Cardiovascular Heart:
recurrent episodes of ventricular fibrillation
bradycardia (in some patients)
cardiac arrest (in some patients)
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

Human phenotypes related to Long Qt Syndrome 15:

³²

#	Description	HPO Frequency	HPO Source Accession
1	prolonged qt interval ³²		HP:0001657
2	cardiac arrest ³²	occasional (7.5%)	HP:0001695
3	bradycardia ³²	occasional (7.5%)	HP:0001662

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

²⁶

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Decreased Hepatitis C Virus pseudoparticles (HCVpp; H77; genotype 1a) infection	GR00234-A-1	8.62	CALM2 CALM3

Sources

Drugs & Therapeutics for Long Qt Syndrome 15

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

Sources

Genetic Tests for Long Qt Syndrome 15

Genetic tests related to Long Qt Syndrome 15:

#	Genetic test	Affiliating Genes
1	Long Qt Syndrome 15 ²⁹	CALM2

Sources

Anatomical Context for Long Qt Syndrome 15

MalaCards organs/tissues related to Long Qt Syndrome 15:

⁴¹

Heart

Sources

Publications for Long Qt Syndrome 15

Sources

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	1358.55	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative variation ⁷⁵ Genetic Tests ²⁹ Pathogenic/Likely pathogenic ⁶ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Variants (show sections)	23388215 20301308 24917665
2	CD2AP	CD2 Associated Protein	Protein Coding	15.28	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
3	CALM3	Calmodulin 3	Protein Coding	14.82	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
4	CALM1	Calmodulin 1	Protein Coding	14.82	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)

Sources

Variations for Long Qt Syndrome 15

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

⁷⁵

#	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_001743.5(CALM2): c.293A> G (p.Asn98Ser)	single nucleotide variant	Pathogenic/Likely pathogenic	rs398124647	GRCh37	Chromosome 2, 47388990: 47388990
2	CALM2	NM_001743.5(CALM2): c.293A> G (p.Asn98Ser)	single nucleotide variant	Pathogenic/Likely pathogenic	rs398124647	GRCh38	Chromosome 2, 47161851: 47161851
3	CALM2	NM_001743.5(CALM2): c.293A> T (p.Asn98Ile)	single nucleotide variant	Pathogenic/Likely pathogenic	rs398124647	GRCh37	Chromosome 2, 47388990: 47388990
4	CALM2	NM_001743.5(CALM2): c.293A> T (p.Asn98Ile)	single nucleotide variant	Pathogenic/Likely pathogenic	rs398124647	GRCh38	Chromosome 2, 47161851: 47161851
5	CALM2	NM_001743.5(CALM2): c.396T> G (p.Asp132Glu)	single nucleotide variant	Pathogenic/Likely pathogenic	rs398124648	GRCh37	Chromosome 2, 47388887: 47388887
6	CALM2	NM_001743.5(CALM2): c.396T> G (p.Asp132Glu)	single nucleotide variant	Pathogenic/Likely pathogenic	rs398124648	GRCh38	Chromosome 2, 47161748: 47161748
7	CALM2	NM_001743.5(CALM2): c.400G> C (p.Asp134His)	single nucleotide variant	Pathogenic/Likely pathogenic	rs398124650	GRCh37	Chromosome 2, 47388883: 47388883
8	CALM2	NM_001743.5(CALM2): c.400G> C (p.Asp134His)	single nucleotide variant	Pathogenic/Likely pathogenic	rs398124650	GRCh38	Chromosome 2, 47161744: 47161744
9	CALM2	NM_001743.5(CALM2): c.407A> C (p.Gln136Pro)	single nucleotide variant	Pathogenic/Likely pathogenic	rs398124649	GRCh37	Chromosome 2, 47388876: 47388876
10	CALM2	NM_001743.5(CALM2): c.407A> C (p.Gln136Pro)	single nucleotide variant	Pathogenic/Likely pathogenic	rs398124649	GRCh38	Chromosome 2, 47161737: 47161737
11	CALM2	NM_001305625.1(CALM2): c.179A> T (p.Asp60Val)	single nucleotide variant	Pathogenic	rs730882254	GRCh37	Chromosome 2, 47388996: 47388996
12	CALM2	NM_001305625.1(CALM2): c.179A> T (p.Asp60Val)	single nucleotide variant	Pathogenic	rs730882254	GRCh38	Chromosome 2, 47161857: 47161857
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		GRCh37	Chromosome 2, 47388869: 47388869
16	CALM2	NM_001305625.1(CALM2): c.306C> G (p.Asn102Lys)	single nucleotide variant	Pathogenic		GRCh38	Chromosome 2, 47161730: 47161730

Sources

Expression for Long Qt Syndrome 15

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

Sources

Pathways for Long Qt Syndrome 15

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

(show top 50) (show all 111)

#	Super pathways	Score	Top Affiliating Genes
1	Olfactory Signaling Pathway ⁶⁶ Show member pathways Olfactory transduction ³⁷	12.9	CALM1 CALM2 CALM3
2	DAG and IP3 signaling ⁶⁶ Show member pathways Beta-2 adrenergic-dependent CFTR expression ²² Ca-dependent events ⁶⁶ Calmodulin induced events ⁶⁶ CaM pathway ⁶⁶ Cam-PDE 1 activation ⁶⁶ CREB phosphorylation through the activation of Adenylate Cyclase ⁶⁶ Development Beta-adrenergic receptors signaling via cAMP ²² Development Role of Activin A in cell differentiation and proliferation ²² EGFR interacts with phospholipase C-gamma ⁶⁶ G Protein Signaling Pathways ¹ G-protein mediated events ⁶⁶ Inhibitory action of Lipoxin A4 on PDGF, EGF and LTD4 signaling ²² Neurophysiological process PGE2-induced pain processing ²² Opioid Signalling ⁶⁶ PKA activation ⁶⁶ PKA activation in glucagon signalling ⁶⁶ PKA-mediated phosphorylation of CREB ⁶⁶ PLC beta mediated events ⁶⁶ PLC-gamma1 signalling ⁶⁶ Signal transduction Calcium signaling ²²	12.87	CALM1 CALM2 CALM3
3	Phospholipase-C Pathway ⁶⁴ Show member pathways PTEN Pathway ⁶⁴	12.85	CALM1 CALM2 CALM3
4	Sweet Taste Signaling ⁶⁴ Show member pathways Bitter Taste Signaling ⁶⁴ Cellular Effects of Sildenafil ⁶⁴ Melatonin Signaling ⁶⁴ Sperm Motility ⁶⁴	12.85	CALM1 CALM2 CALM3
5	Circadian entrainment ³⁷ Show member pathways Cholinergic synapse ³⁷ Dopaminergic synapse ³⁷ Estrogen signaling pathway ³⁷ Glutamatergic synapse ³⁷ Relaxin receptors ⁶⁶ Relaxin signaling pathway ³⁷ Synaptic Neurotransmission Pathways: Glutamatergic Excitation ⁶⁵	12.83	CALM1 CALM2 CALM3
6	G-Beta Gamma Signaling ⁶⁴ Show member pathways CRHR Pathway ⁶⁴ GHRH Signaling ⁶⁴ Hedgehog Signaling in Mammals ⁶⁴ Relaxin Pathway ⁶⁴ Signaling in Gap Junctions ⁶⁴	12.83	CALM1 CALM2 CALM3
7	Aldosterone synthesis and secretion ³⁷ Show member pathways Adrenergic signaling in cardiomyocytes ³⁷ Ca2+ activated K+ channels ⁶⁶ Cortisol synthesis and secretion ³⁷ Cushing's syndrome ³⁷ Insulin secretion ³⁷ Melanogenesis ³⁷ Thyroid hormone synthesis ³⁷	12.82	CALM1 CALM2 CALM3
8	Signaling by Rho GTPases ⁶⁶ Show member pathways RHO GTPase Effectors ⁶⁶	12.82	CALM1 CALM2 CALM3
9	fMLP Pathway ⁶⁴ Show member pathways Alpha-Adrenergic Signaling ⁶⁴ CCR3 Pathway in Eosinophils ⁶⁴ CXCR4 Pathway ⁶⁴ Huntington's Disease Pathway ⁶⁴ Internalin Pathway ⁶⁴ Signal transduction Activation of PKC via G-Protein coupled receptor ²² VEGF and S-1P Signaling ⁶⁴	12.81	CALM1 CALM2 CALM3
10	Transmission across Chemical Synapses ⁶⁶ Show member pathways Neuronal System ⁶⁶ Neurotransmitter Receptor Binding And Downstream Transmission In The Postsynaptic Cell ⁶⁶	12.81	CALM1 CALM2 CALM3
11	TCR Signaling (Qiagen) ⁶⁴ Show member pathways Fc-EpsilonRI Pathway ⁶⁴ PDGF Pathway ⁶⁴ PKC-Theta Pathway ⁶⁴ TCR Signaling ⁶⁴	12.73	CALM1 CALM2 CALM3
12	Development Angiotensin activation of ERK ²² Show member pathways Cell adhesion Integrin inside-out signaling ²² Development ACM2 and ACM4 activation of ERK ²² Development Angiotensin signaling via PYK2 ²² Development EDNRB signaling ²² Development EPO-induced MAPK pathway ²² Development G-Proteins mediated regulation MARK-ERK signaling ²² Signal transduction IP3 signaling ²²	12.72	CALM1 CALM2 CALM3
13	Regulation of lipid metabolism Insulin signaling-generic cascades ²² Show member pathways acetyl-CoA biosynthesis from citrate ¹ Butyrate-induced histone acetylation ¹ Cell adhesion PLAU signaling ²² Class IB PI3K non-lipid kinase events ¹ Development CNTF receptor signaling ²² Development Growth hormone signaling via PI3K/AKT and MAPK cascades ²² ErbB2/ErbB3 signaling events ¹ Glucose Homeostasis ¹ Insulin signaling pathway ³⁷ IRS activation ⁶⁶ Signal attenuation ⁶⁶ Transcription Receptor-mediated HIF regulation ²² Translation Regulation of EIF2 activity ²² Translation Regulation of EIF4F activity ²² Translation Insulin regulation of translation ²²	12.72	CALM1 CALM2 CALM3
14	Signaling by Wnt ⁶⁶ Show member pathways TCF dependent signaling in response to WNT ⁶⁶	12.71	CALM1 CALM2 CALM3
15	CCR5 Pathway in Macrophages ⁶⁴ Show member pathways Androgen Signaling ⁶⁴ Chemokine Signaling ⁶⁴ Chemokine signaling pathway ³⁷	12.7	CALM1 CALM2 CALM3
16	Glycosaminoglycan metabolism ⁶⁶ Show member pathways chondroitin sulfate biosynthesis ¹ chondroitin sulfate biosynthesis (late stages) ¹ Heparan sulfate/heparin (HS-GAG) metabolism ⁶⁶ HS-GAG biosynthesis ⁶⁶ Hyaluronan biosynthesis and export ⁶⁶ Hyaluronan metabolism ⁶⁶ Hyaluronan uptake and degradation ⁶⁶ Metabolism of carbohydrates ⁶⁶	12.7	CALM1 CALM2 CALM3
17	Allograft rejection ¹ ³⁷ Show member pathways Antigen processing and presentation ³⁷ Asthma ³⁷ Autoimmune thyroid disease ³⁷ CTL Mediated Apoptosis ⁶⁴ Graft-versus-host disease ³⁷ Intestinal immune network for IgA production ³⁷ THC Differentiation Pathway ⁶⁴ Type I diabetes mellitus ³⁷ Viral myocarditis ³⁷	12.69	CALM1 CALM2 CALM3
18	NFAT and Cardiac Hypertrophy ⁶⁴ Show member pathways IGF1R Signaling ⁶⁴ Signaling Involved in Cardiac Hypertrophy ⁶⁴	12.69	CALM1 CALM2 CALM3
19	Cardiac conduction ⁶⁶ Show member pathways Classical Kir channels ⁶⁶ Ion homeostasis ⁶⁶ Ion transport by P-type ATPases ⁶⁶ Muscle contraction ⁶⁶ Phase 1 - inactivation of fast Na+ channels ⁶⁶ Phase 3 - rapid repolarisation ⁶⁶ Phase 4 - resting membrane potential ⁶⁶ Physiological factors ⁶⁶ Tandem of pore domain in a weak inwardly rectifying K+ channels (TWIK) ⁶⁶ Tandem pore domain halothane-inhibited K+ channel (THIK) ⁶⁶ Tandem pore domain potassium channels ⁶⁶ TWIK related potassium channel (TREK) ⁶⁶ TWIK-related alkaline pH activated K+ channel (TALK) ⁶⁶ TWIK-related spinal cord K+ channel (TRESK) ⁶⁶ TWIK-releated acid-sensitive K+ channel (TASK) ⁶⁶	12.67	CALM1 CALM2 CALM3
20	Pathways in cancer ³⁷	12.67	CALM1 CALM2 CALM3
21	MAPK-Erk Pathway ⁶⁷ Show member pathways Actin Dynamics Signaling Pathway ⁶⁷ G Protein-coupled Receptors Signaling ⁶⁷	12.66	CALM1 CALM2 CALM3
22	IL-2 Pathway ⁶⁴ Show member pathways HMGB1 Pathway ⁶⁴ LPS Stimulated MAPK Signaling ⁶⁴ PACAP Signaling ⁶⁴ PI3K Signaling in B-Lymphocyte ⁶⁴ TREM1 Pathway ⁶⁴	12.63	CALM1 CALM2 CALM3
23	Glioma ³⁷ Show member pathways EGFR tyrosine kinase inhibitor resistance ³⁷ Endocrine resistance ³⁷ Melanoma ³⁷ Non-small cell lung cancer ³⁷ Signaling Pathways in Glioblastoma ¹	12.61	CALM1 CALM2 CALM3
24	Ras signaling pathway ³⁷ Show member pathways Rap1 signaling pathway ³⁷	12.58	CALM1 CALM2 CALM3
25	Downstream signaling events of B Cell Receptor (BCR) ⁶⁶ Show member pathways Activation of RAS in B cells ⁶⁶ Signaling by the B Cell Receptor (BCR) ⁶⁶	12.58	CALM1 CALM2 CALM3
26	Vascular smooth muscle contraction ³⁷ Show member pathways cGMP-PKG signaling pathway ³⁷ Oxytocin signaling pathway ³⁷	12.58	CALM1 CALM2 CALM3
27	Development HGF signaling pathway ²² Show member pathways Apoptosis and survival Anti-apoptotic action of membrane-bound ESR1 ²² Apoptosis and survival NGF signaling pathway ²² Apoptosis and survival Role of CDK5 in neuronal death and survival ²² Development Neurotrophin family signaling ²² MET activates PTPN11 ⁶⁶ MET activates STAT3 ⁶⁶ Neurotrophin signaling pathway ³⁷ Signaling events mediated by Hepatocyte Growth Factor Receptor (c-Met) ¹ Signaling of Hepatocyte Growth Factor Receptor ¹	12.57	CALM1 CALM2 CALM3
28	NF-KappaB Family Pathway ⁶⁴ Show member pathways NF-KappaB (p50-p65) Pathway ⁶⁴	12.55	CALM1 CALM2 CALM3
29	superpathway of inositol phosphate compounds ¹ Show member pathways 1D-myo-inositol hexakisphosphate biosynthesis II (mammalian) ¹ 1D-myo-inositol hexakisphosphate biosynthesis V (from Ins(1,3,4)P3) ¹ 3-phosphoinositide biosynthesis ¹ 3-phosphoinositide degradation ¹ D-myo-inositol (1,3,4)-trisphosphate biosynthesis ¹ D-myo-inositol (1,4,5)-trisphosphate biosynthesis ¹ D-myo-inositol (1,4,5)-trisphosphate degradation ¹ D-myo-inositol (3,4,5,6)-tetrakisphosphate biosynthesis ¹ D-myo-inositol-5-phosphate metabolism ¹ Inositol phosphate metabolism ³⁷ Phosphatidylinositol signaling system ³⁷ superpathway of D-myo-inositol (1,4,5)-trisphosphate metabolism ¹	12.53	CALM1 CALM2 CALM3
30	Development Endothelin-1/EDNRA signaling ²² Show member pathways Cytoskeleton remodeling FAK signaling ²² Development Endothelin-1/EDNRA transactivation of EGFR ²² GnRH signaling pathway ³⁷ Inflammatory mediator regulation of TRP channels ³⁷	12.52	CALM1 CALM2 CALM3
31	G-AlphaQ Signaling ⁶⁴ Show member pathways G-AlphaI Signaling ⁶⁴ Thrombin Signaling ⁶⁴	12.52	CALM1 CALM2 CALM3
32	Glucose metabolism ⁶⁶ Show member pathways gluconeogenesis ¹ Gluconeogenesis ⁶⁶ glycogen biosynthesis ¹ Glycogen breakdown (glycogenolysis) ⁶⁶ Glycogen storage disease type 0 (liver GYS2) ⁶⁶ Glycogen storage disease type II (GAA) ⁶⁶ Glycogen storage disease type IV (GBE1) ⁶⁶ Glycogen synthesis ⁶⁶ glycolysis ¹ Glycolysis ⁶⁶ Glycolysis / Gluconeogenesis ³⁷ Glycolysis and Gluconeogenesis ¹ Glycolysis and gluconeogenesis (short map) ²² Lysosomal glycogen catabolism ⁶⁶ malate-aspartate shuttle ¹	12.51	CALM1 CALM2 CALM3
33	Immune response NFAT in immune response ²² Show member pathways Immune response CD28 signaling ²² Immune response ICOS pathway in T-helper cell ²² Immune response T cell receptor signaling pathway ²²	12.47	CALM1 CALM2 CALM3
34	Immune response Fc epsilon RI pathway ²² Show member pathways Fc epsilon RI signaling pathway ³⁷ Fc-epsilon receptor I signaling in mast cells ¹ Immune response BCR pathway ²² VEGF signaling pathway ³⁷	12.46	CALM1 CALM2 CALM3
35	Development Dopamine D2 receptor transactivation of EGFR ²² Show member pathways Apoptosis and survival BAD phosphorylation ²² BAD Phosphorylation ⁶⁴ Chemotaxis CXCR4 signaling pathway ²² Development Alpha-2 adrenergic receptor activation of ERK ²²	12.44	CALM1 CALM2 CALM3
36	Kaposi's sarcoma-associated herpesvirus infection ³⁷ Show member pathways Hepatitis B ³⁷	12.44	CALM1 CALM2 CALM3
37	ADP signalling through P2Y purinoceptor 12 ⁶⁶ Show member pathways Adrenaline,noradrenaline inhibits insulin secretion ⁶⁶ Beta-agonist/Beta-blocker Pathway, Pharmacodynamics ⁶¹ Cooperation of PDCL (PhLP1) and TRiC/CCT in G-protein beta folding ⁶⁶ G alpha (z) signalling events ⁶⁶ G-protein activation ⁶⁶ Signal transduction cAMP signaling ²²	12.42	CALM1 CALM2 CALM3
38	Ion channel transport ⁶⁶ Show member pathways Stimuli-sensing channels ⁶⁶	12.41	CALM1 CALM2 CALM3
39	Myometrial Relaxation and Contraction Pathways ¹ Show member pathways Calcium Regulation in the Cardiac Cell ¹	12.41	CALM1 CALM2 CALM3
40	Immune response Role of DAP12 receptors in NK cells ²² Show member pathways Immune response CD16 signaling in NK cells ²² Natural killer cell mediated cytotoxicity ³⁷	12.39	CALM1 CALM2 CALM3
41	BMP Pathway ⁶⁴ Show member pathways Caspase Cascade ⁶⁴ Depolarization of the Presynaptic Terminal Triggers the Opening of Calcium Channels ⁶⁶ DREAM Repression and Dynorphin Expression ⁶⁴ nNOS Signaling in Skeletal Muscle ⁶⁴ TOB in Osteoblast Signaling ⁶⁴	12.37	CALM1 CALM2 CALM3
42	Aquaporin-mediated transport ⁶⁶ Show member pathways Cytoskeleton remodeling Role of PKA in cytoskeleton reorganisation ²² Glucagon signaling in metabolic regulation ⁶⁶ Glucagon-like Peptide-1 (GLP1) regulates insulin secretion ⁶⁶ Passive transport by Aquaporins ⁶⁶ Transport of glycerol from adipocytes to the liver by Aquaporins ⁶⁶ Vasopressin regulates renal water homeostasis via Aquaporins ⁶⁶	12.32	CALM1 CALM2 CALM3
43	CLEC7A (Dectin-1) signaling ⁶⁶ Show member pathways Alternative NF-kappaB pathway ¹ CLEC7A/inflammasome pathway ⁶⁶ C-type lectin receptors (CLRs) ⁶⁶	12.32	CALM1 CALM2 CALM3
44	Presynaptic function of Kainate receptors ⁶⁶ Show member pathways Activation of Ca-permeable Kainate Receptor ⁶⁶ Activation of Kainate Receptors upon glutamate binding ⁶⁶ Activation of Na-permeable Kainate Receptors ⁶⁶ Calcitonin-like ligand receptors ⁶⁶ Class B/2 (Secretin family receptors) ⁶⁶ G beta-gamma signalling through PLC beta ⁶⁶ Glucagon-type ligand receptors ⁶⁶ G-Protein Signaling through Tubby Protein ⁶⁴ Ionotropic activity of Kainate Receptors ⁶⁶	12.3	CALM1 CALM2 CALM3
45	Semaphorin interactions ⁶⁶ Show member pathways CRMPs in Sema3A signaling ⁶⁶ Inhibition of Ribosome Biogenesis by p19(ARF) ⁶⁴ Other semaphorin interactions ⁶⁶ RHO GTPases activate CIT ⁶⁶ RHO GTPases activate PAKs ⁶⁶ RHO GTPases Activate ROCKs ⁶⁶ Sema3A PAK dependent Axon repulsion ⁶⁶ SEMA3A-Plexin repulsion signaling by inhibiting Integrin adhesion ⁶⁶ Sema4D in semaphorin signaling ⁶⁶ Sema4D induced cell migration and growth-cone collapse ⁶⁶ Sema4D mediated inhibition of cell attachment and migration ⁶⁶	12.3	CALM1 CALM2 CALM3
46	RhoGDI Pathway ⁶⁴ Show member pathways Fc-GammaR-Mediated Phagocytosis in Macrophages ⁶⁴	12.29	CALM1 CALM2 CALM3
47	ICos-ICosL Pathway in T-Helper Cell ⁶⁴ Show member pathways Calcium Mediated T-Cell Apoptosis ⁶⁴ CD28 Signaling in T-Helper Cell ⁶⁴	12.28	CALM1 CALM2 CALM3
48	B cell receptor signaling pathway (KEGG) ³⁷ Show member pathways B Cell Receptor Signaling Pathway ¹ BCR signaling pathway ¹	12.27	CALM1 CALM2 CALM3
49	Dopamine-DARPP32 Feedback onto cAMP Pathway ⁶⁴	12.25	CALM1 CALM2 CALM3
50	Oocyte meiosis ³⁷ Show member pathways Progesterone-mediated oocyte maturation ³⁷	12.24	CALM1 CALM2 CALM3

Sources

GO Terms for Long Qt Syndrome 15

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

(show all 11)

#	Name	GO ID	Score	Top Affiliating Genes
1	extracellular exosome	GO:0070062	9.8	CALM1 CALM2 CALM3 CD2AP
2	cytoskeleton	GO:0005856	9.73	CALM1 CALM2 CALM3 CD2AP
3	protein-containing complex	GO:0032991	9.65	CALM1 CALM2 CALM3
4	centrosome	GO:0005813	9.63	CALM1 CALM2 CALM3
5	spindle	GO:0005819	9.58	CALM1 CALM2 CALM3
6	vesicle	GO:0031982	9.54	CALM1 CALM2 CALM3
7	spindle pole	GO:0000922	9.5	CALM1 CALM2 CALM3
8	sarcomere	GO:0030017	9.43	CALM1 CALM2 CALM3
9	spindle microtubule	GO:0005876	9.33	CALM1 CALM2 CALM3
10	calcium channel complex	GO:0034704	9.13	CALM1 CALM2 CALM3
11	catalytic complex	GO:1902494	8.8	CALM1 CALM2 CALM3

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

(show all 21)

#	Name	GO ID	Score	Top Affiliating Genes
1	phosphorylation	GO:0016310	9.77	CALM1 CALM2 CALM3
2	response to calcium ion	GO:0051592	9.77	CALM1 CALM2 CALM3
3	positive regulation of protein serine/threonine kinase activity	GO:0071902	9.76	CALM1 CALM2 CALM3
4	substantia nigra development	GO:0021762	9.75	CALM1 CALM2 CALM3
5	regulation of cytokinesis	GO:0032465	9.74	CALM1 CALM2 CALM3
6	regulation of heart rate	GO:0002027	9.73	CALM1 CALM2 CALM3
7	positive regulation of peptidyl-threonine phosphorylation	GO:0010800	9.72	CALM1 CALM2 CALM3
8	positive regulation of protein autophosphorylation	GO:0031954	9.71	CALM1 CALM2 CALM3
9	positive regulation of protein dephosphorylation	GO:0035307	9.7	CALM1 CALM2 CALM3
10	regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion	GO:0010881	9.69	CALM1 CALM2 CALM3
11	regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum	GO:0010880	9.67	CALM1 CALM2 CALM3
12	regulation of cardiac muscle contraction	GO:0055117	9.65	CALM1 CALM2 CALM3
13	positive regulation of phosphoprotein phosphatase activity	GO:0032516	9.63	CALM1 CALM2 CALM3
14	negative regulation of peptidyl-threonine phosphorylation	GO:0010801	9.61	CALM1 CALM2 CALM3
15	obsolete positive regulation of cAMP biosynthetic process	GO:0030819	9.58	CALM1 CALM2 CALM3
16	detection of calcium ion	GO:0005513	9.54	CALM1 CALM2 CALM3
17	negative regulation of ryanodine-sensitive calcium-release channel activity	GO:0060315	9.5	CALM1 CALM2 CALM3
18	positive regulation of ryanodine-sensitive calcium-release channel activity	GO:0060316	9.43	CALM1 CALM2 CALM3
19	regulation of cell communication by electrical coupling involved in cardiac conduction	GO:1901844	9.33	CALM1 CALM2 CALM3
20	positive regulation of cyclic-nucleotide phosphodiesterase activity	GO:0051343	9.13	CALM1 CALM2 CALM3
21	positive regulation of cyclic nucleotide metabolic process	GO:0030801	8.8	CALM1 CALM2 CALM3

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

(show all 12)

#	Name	GO ID	Score	Top Affiliating Genes
1	calcium ion binding	GO:0005509	9.69	CALM1 CALM2 CALM3
2	kinase activity	GO:0016301	9.67	CALM1 CALM2 CALM3
3	protein kinase binding	GO:0019901	9.65	CALM1 CALM2 CALM3
4	protein domain specific binding	GO:0019904	9.63	CALM1 CALM2 CALM3
5	ion channel binding	GO:0044325	9.58	CALM1 CALM2 CALM3
6	disordered domain specific binding	GO:0097718	9.54	CALM1 CALM2 CALM3
7	protein serine/threonine kinase activator activity	GO:0043539	9.5	CALM1 CALM2 CALM3
8	calcium channel inhibitor activity	GO:0019855	9.43	CALM1 CALM2
9	titin binding	GO:0031432	9.43	CALM1 CALM2 CALM3
10	adenylate cyclase binding	GO:0008179	9.33	CALM1 CALM2 CALM3
11	protein phosphatase activator activity	GO:0072542	9.13	CALM1 CALM2 CALM3
12	N-terminal myristoylation domain binding	GO:0031997	8.8	CALM1 CALM2 CALM3

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 ExPASy

¹⁸ FDA Approved Drugs

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HGMD

³¹ HMDB

³² HPO

³³ ICD10

³⁴ ICD10 via Orphanet

³⁵ ICD9CM

³⁶ IUPHAR

³⁷ KEGG

³⁸ LifeMap

³⁹ LncRNADisease

⁴⁰ LOVD

⁴¹ MalaCards

⁴² MedGen

⁴³ MedlinePlus

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NIH Rare Diseases

⁵⁴ NINDS

⁵⁵ Novoseek

⁵⁶ Novus Biologicals

⁵⁷ OMIM

⁵⁸ OMIM via Orphanet

⁵⁹ Orphanet

⁶⁰ PathCards

⁶¹ PharmGKB

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ SNOMED-CT via Orphanet

⁷¹ TGDB

⁷² Tocris

⁷³ UMLS

⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia