TS
MCID: TMT001
MIFTS: 61

Timothy Syndrome (TS)

Categories: Genetic diseases, Rare diseases

Aliases & Classifications for Timothy Syndrome

MalaCards integrated aliases for Timothy Syndrome:

Name: Timothy Syndrome 56 12 24 52 25 58 73 29 13 6 43 15 39 71
Long Qt Syndrome with Syndactyly 56 24 52 25 73
Lqt8 52 25 58
Ts 56 25 73
Long Qt Syndrome Type 8 24 58
Long Qt Syndrome-Syndactyly Syndrome 58
Long Qt Syndrome 8 52

Characteristics:

Orphanet epidemiological data:

58
timothy syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide);

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
de novo mutation, most patients have a gly406arg mutation in cacna1c
some patients with milder phenotypes exhibit somatic mosaicism


HPO:

31
timothy syndrome:
Clinical modifier sudden death
Inheritance autosomal dominant inheritance


GeneReviews:

24
Penetrance No study has specifically investigated the issue of the penetrance of ts. of note, however, penetrance was 100% in the 18 affected individuals with timothy syndrome reported to date [splawski et al 2004, lo-a-njoe et al 2005, splawski et al 2005] and it has remained very high (22 of 23 individuals with pathogenic variants had clearly abnormal electrocardiogram) in the two reports of gain-of-function cacn1c pathogenic variants in association with qt prolongation without extracardiac abnormalities [fukuyama et al 2014, wemhöner et al 2015].

Classifications:



Summaries for Timothy Syndrome

Genetics Home Reference : 25 Timothy syndrome is a rare disorder that primarily affects the heart but can affect many other areas of the body, including the fingers and toes, teeth, nervous system, and immune system. The severity of this condition varies among affected individuals, although it is often life-threatening due to the heart problems. Timothy syndrome is characterized by a heart condition called long QT syndrome, which causes the heart (cardiac) muscle to take longer than usual to recharge between beats. This abnormality in the heart's electrical system can cause severe abnormalities of the heart rhythm (arrhythmias), which can lead to sudden death. Some people with Timothy syndrome are also born with structural heart defects (cardiomyopathy) that affect the heart's ability to pump blood effectively. As a result of these serious heart problems, many people with Timothy syndrome live only into childhood. In about 80 percent of cases of Timothy syndrome, the cause of death is a severe form of arrhythmia called ventricular tachycardia, in which the lower chambers of the heart (the ventricles) beat abnormally fast, often leading to cardiac arrest and sudden death. Timothy syndrome is also characterized by webbing or fusion of the skin between some fingers or toes (cutaneous syndactyly). About half of affected people have distinctive facial features such as a flattened nasal bridge, low-set ears, a small upper jaw, and a thin upper lip. Children with this condition have small, misplaced teeth and frequent cavities (dental caries). Additional signs and symptoms of Timothy syndrome can include baldness at birth, frequent infections, episodes of low blood sugar (hypoglycemia), and an abnormally low body temperature (hypothermia). Researchers have found that many children with Timothy syndrome have the characteristic features of autism or similar conditions known as autistic spectrum disorders. Affected children tend to have impaired communication and socialization skills, as well as delayed development of speech and language. Other nervous system abnormalities that can occur in Timothy syndrome include intellectual disability and recurrent seizures (epilepsy); some affected individuals have photosensitive epilepsy, in which seizures are triggered by flashing lights.

MalaCards based summary : Timothy Syndrome, also known as long qt syndrome with syndactyly, is related to chromosome 2q35 duplication syndrome and cardiac arrest. An important gene associated with Timothy Syndrome is CACNA1C (Calcium Voltage-Gated Channel Subunit Alpha1 C), and among its related pathways/superpathways are Activation of cAMP-Dependent PKA and CREB Pathway. The drugs Diltiazem and Lidocaine have been mentioned in the context of this disorder. Affiliated tissues include heart, skin and brain, and related phenotypes are intellectual disability and hypothyroidism

Disease Ontology : 12 A syndrome that is characterized by cardiac, hand/foot, facial, and neurodevelopmental features. The two forms are type 1 (classic) and type 2, a rare form that has material basis in mutations in a transcript variant of CACNA1C on chromosome 12p13.33.

NIH Rare Diseases : 52 Timothy syndrome is a disorder that affects the heart, digits (toes and fingers), and nervous system (brain and nerves). It is a type of long QT syndrome . Long QT syndrome refers to a prolonged QT interval measurement seen on the electrocardiogram . Symptoms of Timothy syndrome include fusion of the skin between fingers or toes (syndactyly ), distinctive facial features, and congenital heart defects . Additional symptoms may include developmental delay , intellectual disability , and autism spectrum disorders. There are two forms of Timothy syndrome, classified based on signs and symptoms. Type 1, known as classic type, includes all of the symptoms described above. Type 2, or atypical type, causes a more severe form of long QT syndrome and does not appear to include syndactyly. Both types are caused by mutations in the CACNA1C gene and are inherited in an autosomal dominant manner. Treatment is focused on managing cardiac symptoms. This might include medications such as beta-blockers , placement of defibrillators , and pacemakers .

OMIM : 56 Timothy syndrome (TS) is characterized by multiorgan dysfunction, including lethal arrhythmias, webbing of fingers and toes, congenital heart disease, immune deficiency, intermittent hypoglycemia, cognitive abnormalities, and autism (Splawski et al., 2004). (601005)

UniProtKB/Swiss-Prot : 73 Timothy syndrome: Disorder characterized by multiorgan dysfunction including lethal arrhythmias, webbing of fingers and toes, congenital heart disease, immune deficiency, intermittent hypoglycemia, cognitive abnormalities and autism.

Wikipedia : 74 Timothy syndrome is a rare autosomal-dominant disorder characterized by physical malformations, as well... more...

GeneReviews: NBK1403

Related Diseases for Timothy Syndrome

Diseases related to Timothy Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 287)
# Related Disease Score Top Affiliating Genes
1 chromosome 2q35 duplication syndrome 31.3 KCNQ1 KCNJ2 CACNA1C
2 cardiac arrest 30.4 SCN5A RYR2 KCNQ1 KCNH2 CACNA2D1 ANK2
3 cardiac conduction defect 30.1 SCN5A RYR2 KCNQ1 KCNH2 ANK2
4 atrial standstill 1 30.1 SCN5A RYR2 CAV3
5 atrioventricular block 30.1 SCN5A RYR2 KCNQ1 KCNH2 KCNE2 KCNE1
6 ventricular fibrillation, paroxysmal familial, 1 30.1 SCN5A RYR2 KCNQ1 KCNH2 KCNE2 KCNE1
7 familial long qt syndrome 29.7 SCN5A KCNQ1 KCNJ2 KCNH2 KCNE2 KCNE1
8 cardiac arrhythmia 29.3 SCN5A RYR2 KCNQ1 KCNJ2 KCNH2 KCNE2
9 atrial fibrillation 28.7 SCN5A SCN4B RYR2 KCNQ1 KCNJ2 KCNH2
10 long qt syndrome 28.2 SNTA1 SCN5A SCN4B RYR2 KCNQ1 KCNJ2
11 long qt syndrome 3 28.2 SNTA1 SCN5A SCN4B RYR2 KCNQ1 KCNJ2
12 hypertrophic cardiomyopathy 27.9 SCN5A RYR2 KCNQ1 KCNJ2 KCNH2 KCNE2
13 gilles de la tourette syndrome 12.4
14 turner syndrome 12.1
15 virus-associated trichodysplasia spinulosa 11.9
16 temperature sensitivity complementation, cell cycle specific, k12 11.6
17 tuberous sclerosis 1 11.4
18 trichostasis spinulosa 11.4
19 albinism, oculocutaneous, type ib 11.2
20 tuberous sclerosis 2 11.2
21 colorectal cancer 10.5
22 long qt syndrome 8 10.5
23 autism spectrum disorder 10.5
24 plague 10.4
25 periodic paralyses 10.4 KCNJ2 CACNA1S
26 epileptic encephalopathy, early infantile, 14 10.4 SCN5A KCNQ1 KCNH2
27 right bundle branch block 10.3 SCN5A KCNH2 CACNA1C
28 herpes simplex 10.3
29 myasthenic syndrome, congenital, 20, presynaptic 10.3 KCNJ2 CD2AP
30 hypoglycemia 10.3
31 properdin deficiency, x-linked 10.3 KCNH2 CD2AP
32 second-degree atrioventricular block 10.3 SCN5A CACNA1D
33 progressive familial heart block 10.3 SCN5A KCNQ1 KCNH2
34 brugada syndrome 1 10.3 SCN5A RYR2 KCNH2
35 gastric cancer 10.3
36 stomatitis 10.3
37 myopathy, congenital, bailey-bloch 10.3 CACNA1S CACNA1C
38 first-degree atrioventricular block 10.3 SCN5A KCNJ2
39 ventricular tachycardia, catecholaminergic polymorphic, 3 10.3 RYR2 KCNJ2 CD2AP
40 lung cancer 10.3
41 arrhythmogenic right ventricular dysplasia, familial, 12 10.3 RYR2 KCNH2 CD2AP
42 familial short qt syndrome 10.3 KCNQ1 KCNJ2 KCNH2 CACNA2D1
43 hyperkalemic periodic paralysis 10.2 SCN5A KCNJ2 CACNA1S
44 deafness, autosomal recessive 98 10.2 KCNQ1 KCNE2 KCNE1
45 familial hemiplegic migraine 10.2 SCN5A CACNA1S CACNA1C
46 autism 10.2
47 tic disorder 10.2
48 adenocarcinoma 10.2
49 paramyotonia congenita of von eulenburg 10.2 SCN5A KCNJ2 CACNA1S
50 third-degree atrioventricular block 10.2 SCN5A KCNJ2 KCNH2 CACNA1D

Graphical network of the top 20 diseases related to Timothy Syndrome:



Diseases related to Timothy Syndrome

Symptoms & Phenotypes for Timothy Syndrome

Human phenotypes related to Timothy Syndrome:

31 (show all 24)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 31 occasional (7.5%) HP:0001249
2 hypothyroidism 31 occasional (7.5%) HP:0000821
3 cardiomegaly 31 occasional (7.5%) HP:0001640
4 hypoglycemia 31 occasional (7.5%) HP:0001943
5 tetralogy of fallot 31 occasional (7.5%) HP:0001636
6 patent ductus arteriosus 31 occasional (7.5%) HP:0001643
7 ventricular septal defect 31 occasional (7.5%) HP:0001629
8 hypocalcemia 31 occasional (7.5%) HP:0002901
9 pneumonia 31 occasional (7.5%) HP:0002090
10 generalized hypotonia 31 occasional (7.5%) HP:0001290
11 bronchitis 31 occasional (7.5%) HP:0012387
12 patent foramen ovale 31 occasional (7.5%) HP:0001655
13 seizure 31 occasional (7.5%) HP:0001250
14 global developmental delay 31 HP:0001263
15 depressed nasal bridge 31 HP:0005280
16 microdontia 31 HP:0000691
17 autism 31 HP:0000717
18 prolonged qt interval 31 HP:0001657
19 thin upper lip vermilion 31 HP:0000219
20 round face 31 HP:0000311
21 recurrent infections 31 HP:0002719
22 syndactyly 31 HP:0001159
23 bradycardia 31 HP:0001662
24 cutaneous syndactyly 31 HP:0012725

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Face:
round face

Skeletal Hands:
cutaneous syndactyly

Head And Neck Mouth:
thin upper lip
receding upper jaw

Head And Neck Teeth:
small teeth

Cardiovascular Heart:
tetralogy of fallot (rare)
patent foramen ovale (in some patients)
cardiac arrhythmias resulting in sudden death
long qt interval, severe
ventricular tachyarrhythmia
more
Endocrine Features:
hypothyroidism (in some patients)

Respiratory Airways:
bronchitis (in some patients)

Skin Nails Hair Hair:
no hair at birth

Immunology:
recurrent infections

Skeletal Feet:
cutaneous syndactyly

Neurologic Central Nervous System:
developmental delay
mental retardation (in some patients)
seizures (in some patients)
autism or autism spectrum disorder

Head And Neck Nose:
flat nasal bridge

Cardiovascular Vascular:
pulmonary hypertension (in some patients)
patent ductus arteriosus (in some patients)

Muscle Soft Tissue:
hypotonia (in some patients)

Respiratory Lung:
pneumonia (in some patients)

Laboratory Abnormalities:
hypocalcemia (in some patients)
hypoglycemia (in some patients)

Clinical features from OMIM:

601005

GenomeRNAi Phenotypes related to Timothy Syndrome according to GeneCards Suite gene sharing:

26 (show all 15)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-10 9.55 KCNE2
2 Increased shRNA abundance (Z-score > 2) GR00366-A-100 9.55 CACNA1F
3 Increased shRNA abundance (Z-score > 2) GR00366-A-117 9.55 ANK2 CACNA1F KCNE2
4 Increased shRNA abundance (Z-score > 2) GR00366-A-142 9.55 ANK2
5 Increased shRNA abundance (Z-score > 2) GR00366-A-172 9.55 CACNA1F
6 Increased shRNA abundance (Z-score > 2) GR00366-A-203 9.55 ANK2
7 Increased shRNA abundance (Z-score > 2) GR00366-A-209 9.55 KCNE2
8 Increased shRNA abundance (Z-score > 2) GR00366-A-212 9.55 KCNE2
9 Increased shRNA abundance (Z-score > 2) GR00366-A-26 9.55 CACNA1F
10 Increased shRNA abundance (Z-score > 2) GR00366-A-30 9.55 ANK2
11 Increased shRNA abundance (Z-score > 2) GR00366-A-50 9.55 CACNA1F
12 Increased shRNA abundance (Z-score > 2) GR00366-A-65 9.55 CACNA1F
13 Increased shRNA abundance (Z-score > 2) GR00366-A-78 9.55 KCNE2
14 Increased shRNA abundance (Z-score > 2) GR00366-A-81 9.55 CACNA1F
15 Increased shRNA abundance (Z-score > 2) GR00366-A-86 9.55 ANK2

MGI Mouse Phenotypes related to Timothy Syndrome:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10 CACNA1C CACNA1D CACNA1F CACNA1S CACNA2D1 KCNJ2
2 cardiovascular system MP:0005385 9.9 CACNA1C CACNA1D CACNA1S CACNA2D1 CAV3 CD2AP
3 homeostasis/metabolism MP:0005376 9.77 CACNA1C CACNA1D CACNA1S CACNA2D1 CAMK2G CAV3
4 muscle MP:0005369 9.32 CACNA1C CACNA1S CACNA2D1 CAV3 KCNH2 KCNJ2

Drugs & Therapeutics for Timothy Syndrome

Drugs for Timothy Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 20)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Diltiazem Approved, Investigational Phase 1 42399-41-7 39186
2
Lidocaine Approved, Vet_approved Phase 1 137-58-6 3676
3
Moxifloxacin Approved, Investigational Phase 1 354812-41-2, 151096-09-2 152946
4
Mexiletine Approved, Investigational Phase 1 31828-71-4 4178
5
Dofetilide Approved, Investigational Phase 1 115256-11-6 71329
6 Sodium Channel Blockers Phase 1
7 Anesthetics Phase 1
8 Antihypertensive Agents Phase 1
9 Anti-Infective Agents Phase 1
10 Hormones Phase 1
11 Anti-Arrhythmia Agents Phase 1
12 Vasodilator Agents Phase 1
13 Anti-Bacterial Agents Phase 1
14 Norgestimate, ethinyl estradiol drug combination Phase 1
15 Potassium Channel Blockers Phase 1
16 Anesthetics, Local Phase 1
17 Calcium, Dietary Phase 1
18 Diuretics, Potassium Sparing Phase 1
19 calcium channel blockers Phase 1
20
Calcium Nutraceutical Phase 1 7440-70-2 271

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Five Period Crossover Study of the Ability of Late Sodium or Calcium Current Block (Mexiletine, Lidocaine, or Diltiazem) to Balance the Electrocardiographic Effects of hERG Potassium Current Block (Dofetilide or Moxifloxacin) Completed NCT02308748 Phase 1 Dofetilide;Mexiletine;Lidocaine;Moxifloxacin;Diltiazem;Placebo

Search NIH Clinical Center for Timothy Syndrome

Cochrane evidence based reviews: timothy syndrome

Genetic Tests for Timothy Syndrome

Genetic tests related to Timothy Syndrome:

# Genetic test Affiliating Genes
1 Timothy Syndrome 29 CACNA1C

Anatomical Context for Timothy Syndrome

MalaCards organs/tissues related to Timothy Syndrome:

40
Heart, Skin, Brain

Publications for Timothy Syndrome

Articles related to Timothy Syndrome:

(show top 50) (show all 132)
# Title Authors PMID Year
1
Expanding the phenotype of Timothy syndrome type 2: an adolescent with ventricular fibrillation but normal development. 24 56 6 61
25691416 2015
2
Severe arrhythmia disorder caused by cardiac L-type calcium channel mutations. 6 61 24 56
15863612 2005
3
Ca(V)1.2 calcium channel dysfunction causes a multisystem disorder including arrhythmia and autism. 61 6 24 56
15454078 2004
4
Somatic mosaicism contributes to phenotypic variation in Timothy syndrome. 61 56 6
21910241 2011
5
Using induced pluripotent stem cells to investigate cardiac phenotypes in Timothy syndrome. 6 56 61
21307850 2011
6
Long QT syndrome associated with syndactyly identified in females. 56 24
7572644 1995
7
[The heart-hand syndrome. A new variant of disorders of heart conduction and syndactylia including osseous changes in hands and feet]. 24 56
1318983 1992
8
The Timothy syndrome mutation differentially affects voltage- and calcium-dependent inactivation of CaV1.2 L-type calcium channels. 61 6
18250309 2008
9
Cyclosporin and Timothy syndrome increase mode 2 gating of CaV1.2 calcium channels through aberrant phosphorylation of S6 helices. 61 56
16537462 2006
10
Timothy Syndrome 6 61
20301577 2006
11
Long QT Syndrome 61 6
20301308 2003
12
Gain-of-function mutations in the calcium channel CACNA1C (Cav1.2) cause non-syndromic long-QT but not Timothy syndrome. 61 24
25633834 2015
13
Long QT syndrome type 8: novel CACNA1C mutations causing QT prolongation and variant phenotypes. 24 61
24728418 2014
14
Inhibition of late sodium current by mexiletine: a novel pharmotherapeutical approach in timothy syndrome. 61 24
23580742 2013
15
Ranolazine safely decreases ventricular and atrial fibrillation in Timothy syndrome (LQT8). 24 61
20883512 2012
16
Long QT, syndactyly, joint contractures, stroke and novel CACNA1C mutation: expanding the spectrum of Timothy syndrome. 61 24
22106044 2012
17
Verapamil decreases ventricular tachyarrhythmias in a patient with Timothy syndrome (LQT8). 61 24
16876748 2006
18
Phenotypical manifestations of mutations in the genes encoding subunits of the cardiac voltage-dependent L-type calcium channel. 24
21372292 2011
19
Syndactyly and long QT syndrome (CaV1.2 missense mutation G406R) is associated with hypertrophic cardiomyopathy. 24
16360093 2005
20
A new form of long QT syndrome associated with syndactyly. 24
7798527 1995
21
Elevated basal transcription can underlie timothy channel association with autism related disorders. 61
32437834 2020
22
CACNA1C haploinsufficiency accounts for the common features of interstitial 12p13.33 deletion carriers. 61
31953239 2020
23
Aberrant calcium channel splicing drives defects in cortical differentiation in Timothy syndrome. 61
31868578 2019
24
An autism-causing calcium channel variant functions with selective autophagy to alter axon targeting and behavior. 61
31805042 2019
25
Photosensitive epilepsy and long QT: expanding Timothy syndrome phenotype. 61
31563812 2019
26
Cardiac-only Timothy Syndrome (COTS): Peripartum Cardiomyopathy and Long QT Syndrome. 61
31097345 2019
27
Dysfunctional Cav1.2 channel in Timothy syndrome, from cell to bedside. 61
31324123 2019
28
Unusual clinical description of adult with Timothy syndrome, carrier of a new heterozygote mutation of CACNA1C. 61
30998997 2019
29
Impaired chromaffin cell excitability and exocytosis in autistic Timothy syndrome TS2-neo mouse rescued by L-type calcium channel blockers. 61
30629744 2019
30
Atomic Mechanisms of Timothy Syndrome-Associated Mutations in Calcium Channel Cav1.2. 61
30984024 2019
31
A C. elegans model for the rare human channelopathy, Timothy syndrome type 1. 61
32550369 2018
32
Expanding clinical phenotype in CACNA1C related disorders: From neonatal onset severe epileptic encephalopathy to late-onset epilepsy. 61
30513141 2018
33
Enhanced oligodendrocyte maturation and myelination in a mouse model of Timothy syndrome. 61
30151840 2018
34
Dynamic Electrocardiographic Abnormalities Captured in Timothy Syndrome. 61
30466860 2018
35
Timothy syndrome-like condition with syndactyly but without prolongation of the QT interval. 61
29736926 2018
36
A novel CACNA1C mutation identified in a patient with Timothy syndrome without syndactyly exerts both marked loss- and gain-of-function effects. 61
30023270 2018
37
A Critical Neurodevelopmental Role for L-Type Voltage-Gated Calcium Channels in Neurite Extension and Radial Migration. 61
29773754 2018
38
A case report: Is mexiletine usage effective in the shortening of QTC interval and improving the T-wave alternans in Timothy syndrome? 61
29194862 2018
39
Clinical Outcomes and Modes of Death in Timothy Syndrome: A Multicenter International Study of a Rare Disorder. 61
30067485 2018
40
A multicentre study of patients with Timothy syndrome. 61
28371864 2018
41
Comprehensive analysis of two Shank3 and the Cacna1c mouse models of autism spectrum disorder. 61
28753255 2018
42
Application of Multigene Panel Sequencing in Patients with Prolonged Rate-corrected QT Interval and No Pathogenic Variants Detected in KCNQ1, KCNH2, and SCN5A. 61
29071820 2018
43
The landscape of human mutually exclusive splicing. 61
29242366 2017
44
Depletion of Stercobilin in Fecal Matter from a Mouse Model of Autism Spectrum Disorders. 61
29147105 2017
45
Altered Cav1.2 function in the Timothy syndrome mouse model produces ascending serotonergic abnormalities. 61
28921675 2017
46
Auditory processing enhancements in the TS2-neo mouse model of Timothy Syndrome, a rare genetic disorder associated with autism spectrum disorders. 61
29159279 2017
47
Inhibition of CDK5 Alleviates the Cardiac Phenotypes in Timothy Syndrome. 61
28648896 2017
48
Assembly of functionally integrated human forebrain spheroids. 61
28445465 2017
49
TRPM4 non-selective cation channel variants in long QT syndrome. 61
28315637 2017
50
Timothy syndrome 1 genotype without syndactyly and major extracardiac manifestations. 61
28211989 2017

Variations for Timothy Syndrome

ClinVar genetic disease variations for Timothy Syndrome:

6 (show top 50) (show all 243) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CACNA1C NM_000719.7(CACNA1C):c.1216G>A (p.Gly406Arg)SNV Pathogenic 17632 rs79891110 12:2614110-2614110 12:2504944-2504944
2 CACNA1C NM_000719.7(CACNA1C):c.1204G>A (p.Gly402Ser)SNV Pathogenic 17633 rs80315385 12:2614098-2614098 12:2504932-2504932
3 CACNA1C NM_000719.7(CACNA1C):c.1114-304G>ASNV Pathogenic 190633 rs786205745 12:2613704-2613704 12:2504538-2504538
4 CACNA1C NM_000719.7(CACNA1C):c.1114-304G>CSNV Pathogenic 190634 rs786205745 12:2613704-2613704 12:2504538-2504538
5 CACNA1C NM_000719.7(CACNA1C):c.4418C>G (p.Ala1473Gly)SNV Likely pathogenic 196966 rs794727587 12:2774766-2774766 12:2665600-2665600
6 CACNA1C NM_000719.7(CACNA1C):c.1113G>A (p.Trp371Ter)SNV Likely pathogenic 802809 12:2602552-2602552 12:2493386-2493386
7 CACNA1C NM_000719.7(CACNA1C):c.3642C>T (p.Tyr1214=)SNV Conflicting interpretations of pathogenicity 93402 rs56394008 12:2719790-2719790 12:2610624-2610624
8 CACNA1C NM_000719.7(CACNA1C):c.3780C>A (p.Gly1260=)SNV Conflicting interpretations of pathogenicity 93403 rs201258230 12:2721131-2721131 12:2611965-2611965
9 CACNA1C NM_000719.7(CACNA1C):c.5150C>G (p.Ala1717Gly)SNV Conflicting interpretations of pathogenicity 93411 rs201492706 12:2788668-2788668 12:2679502-2679502
10 CACNA1C NM_000719.7(CACNA1C):c.1468G>A (p.Gly490Arg)SNV Conflicting interpretations of pathogenicity 17634 rs121912775 12:2659186-2659186 12:2550020-2550020
11 CACNA1C NM_000719.7(CACNA1C):c.6040G>A (p.Val2014Ile)SNV Conflicting interpretations of pathogenicity 67556 rs199473660 12:2797868-2797868 12:2688702-2688702
12 CACNA1C NM_000719.7(CACNA1C):c.6388G>A (p.Asp2130Asn)SNV Conflicting interpretations of pathogenicity 67557 rs199473392 12:2800336-2800336 12:2691170-2691170
13 CACNA1C NM_000719.7(CACNA1C):c.6011G>T (p.Gly2004Val)SNV Conflicting interpretations of pathogenicity 456989 rs374991642 12:2797839-2797839 12:2688673-2688673
14 CACNA1C NM_000719.7(CACNA1C):c.6344G>C (p.Gly2115Ala)SNV Conflicting interpretations of pathogenicity 191428 rs199694744 12:2800292-2800292 12:2691126-2691126
15 CACNA1C NM_000719.7(CACNA1C):c.3234C>T (p.Asp1078=)SNV Conflicting interpretations of pathogenicity 195932 rs111606207 12:2716174-2716174 12:2607008-2607008
16 CACNA1C NM_000719.7(CACNA1C):c.5120T>C (p.Val1707Ala)SNV Conflicting interpretations of pathogenicity 190622 rs531161884 12:2788638-2788638 12:2679472-2679472
17 CACNA1C , CACNA1C-AS1 NM_000719.7(CACNA1C):c.5593G>A (p.Glu1865Lys)SNV Conflicting interpretations of pathogenicity 191566 rs200231105 12:2794921-2794921 12:2685755-2685755
18 CACNA1C NM_000719.7(CACNA1C):c.1486C>T (p.Arg496Trp)SNV Conflicting interpretations of pathogenicity 190699 rs760888275 12:2666121-2666121 12:2556955-2556955
19 CACNA1C NM_000719.7(CACNA1C):c.2067C>T (p.Phe689=)SNV Conflicting interpretations of pathogenicity 190612 rs112170830 12:2690927-2690927 12:2581761-2581761
20 CACNA1C NM_000719.7(CACNA1C):c.2579G>A (p.Arg860Gln)SNV Conflicting interpretations of pathogenicity 190654 rs730880056 12:2702427-2702427 12:2593261-2593261
21 CACNA1C NM_000719.7(CACNA1C):c.3862G>A (p.Ala1288Thr)SNV Conflicting interpretations of pathogenicity 190664 rs367895193 12:2743496-2743496 12:2634330-2634330
22 CACNA1C NM_000719.7(CACNA1C):c.4727-9G>ASNV Conflicting interpretations of pathogenicity 190618 rs757966245 12:2783698-2783698 12:2674532-2674532
23 CACNA1C NM_000719.7(CACNA1C):c.4659C>T (p.Asp1553=)SNV Conflicting interpretations of pathogenicity 136628 rs563090568 12:2778134-2778134 12:2668968-2668968
24 CACNA1C NM_000719.7(CACNA1C):c.5214C>A (p.Gly1738=)SNV Conflicting interpretations of pathogenicity 136632 rs199538058 12:2788732-2788732 12:2679566-2679566
25 CACNA1C NM_000719.7(CACNA1C):c.3049-10C>TSNV Conflicting interpretations of pathogenicity 166769 rs186741807 12:2714835-2714835 12:2605669-2605669
26 CACNA1C NM_000719.7(CACNA1C):c.4140+4G>ASNV Conflicting interpretations of pathogenicity 166772 rs111442547 12:2763070-2763070 12:2653904-2653904
27 CACNA1C NM_000719.7(CACNA1C):c.2579G>C (p.Arg860Pro)SNV Conflicting interpretations of pathogenicity 180284 rs730880056 12:2702427-2702427 12:2593261-2593261
28 CACNA1C NM_000719.7(CACNA1C):c.2542_2544GAG[2] (p.Glu850del)short repeat Conflicting interpretations of pathogenicity 155776 rs575583988 12:2702396-2702398 12:2593224-2593226
29 CACNA1C NM_000719.7(CACNA1C):c.202G>A (p.Ala68Thr)SNV Conflicting interpretations of pathogenicity 190709 rs752000790 12:2224542-2224542 12:2115376-2115376
30 CACNA1C NM_000719.7(CACNA1C):c.911T>C (p.Ile304Thr)SNV Conflicting interpretations of pathogenicity 190631 rs201756421 12:2595423-2595423 12:2486257-2486257
31 CACNA1C NM_000719.7(CACNA1C):c.5644T>C (p.Ser1882Pro)SNV Conflicting interpretations of pathogenicity 197498 rs369438564 12:2794972-2794972 12:2685806-2685806
32 CACNA1C NM_000719.7(CACNA1C):c.6272A>G (p.Asn2091Ser)SNV Conflicting interpretations of pathogenicity 216482 rs201090446 12:2800220-2800220 12:2691054-2691054
33 CACNA1C NM_000719.7(CACNA1C):c.4761G>A (p.Ala1587=)SNV Conflicting interpretations of pathogenicity 264555 rs756364065 12:2783741-2783741 12:2674575-2674575
34 CACNA1C NM_000719.7(CACNA1C):c.2391G>A (p.Gly797=)SNV Conflicting interpretations of pathogenicity 286500 rs374857905 12:2694593-2694593 12:2585427-2585427
35 CACNA1C NM_000719.7(CACNA1C):c.3946-10C>TSNV Conflicting interpretations of pathogenicity 308149 rs370630496 12:2760796-2760796 12:2651630-2651630
36 CACNA1C NM_000719.7(CACNA1C):c.4726+13G>ASNV Conflicting interpretations of pathogenicity 308157 rs561365937 12:2778214-2778214 12:2669048-2669048
37 CACNA1C NM_000719.7(CACNA1C):c.5492C>T (p.Thr1831Met)SNV Conflicting interpretations of pathogenicity 308160 rs186015395 12:2791763-2791763 12:2682597-2682597
38 CACNA1C NM_000719.7(CACNA1C):c.300G>A (p.Pro100=)SNV Conflicting interpretations of pathogenicity 308052 rs764323907 12:2224640-2224640 12:2115474-2115474
39 CACNA1C NM_000719.7(CACNA1C):c.2437G>A (p.Gly813Arg)SNV Conflicting interpretations of pathogenicity 308139 rs545511851 12:2694639-2694639 12:2585473-2585473
40 CACNA1C NM_000719.7(CACNA1C):c.3201G>A (p.Ala1067=)SNV Conflicting interpretations of pathogenicity 308142 rs758461435 12:2715821-2715821 12:2606655-2606655
41 CACNA1C NM_000719.7(CACNA1C):c.4323G>A (p.Thr1441=)SNV Conflicting interpretations of pathogenicity 308152 rs753892795 12:2774081-2774081 12:2664915-2664915
42 CACNA1C NM_000719.7(CACNA1C):c.4726+9G>ASNV Conflicting interpretations of pathogenicity 308156 rs369267978 12:2778210-2778210 12:2669044-2669044
43 CACNA1C NM_000719.7(CACNA1C):c.537C>T (p.Ile179=)SNV Conflicting interpretations of pathogenicity 308128 rs369673473 12:2558201-2558201 12:2449035-2449035
44 CACNA1C NM_000719.7(CACNA1C):c.5023G>A (p.Ala1675Thr)SNV Conflicting interpretations of pathogenicity 308159 rs773930851 12:2786965-2786965 12:2677799-2677799
45 CACNA1C NM_000719.7(CACNA1C):c.2232A>C (p.Leu744=)SNV Conflicting interpretations of pathogenicity 308137 rs370145265 12:2693676-2693676 12:2584510-2584510
46 CACNA1C NM_000719.7(CACNA1C):c.2398A>C (p.Lys800Gln)SNV Uncertain significance 308138 rs779009338 12:2694600-2694600 12:2585434-2585434
47 CACNA1C NM_000719.7(CACNA1C):c.*1569G>ASNV Uncertain significance 308188 rs886049223 12:2801934-2801934 12:2692768-2692768
48 CACNA1C NM_000719.7(CACNA1C):c.6239A>G (p.Asn2080Ser)SNV Uncertain significance 308164 rs886049209 12:2800187-2800187 12:2691021-2691021
49 CACNA1C NM_000719.7(CACNA1C):c.*290G>ASNV Uncertain significance 308170 rs749753216 12:2800655-2800655 12:2691489-2691489
50 CACNA1C NM_000719.7(CACNA1C):c.*605G>CSNV Uncertain significance 308172 rs886049213 12:2800970-2800970 12:2691804-2691804

UniProtKB/Swiss-Prot genetic disease variations for Timothy Syndrome:

73
# Symbol AA change Variation ID SNP ID
1 CACNA1C p.Gly402Ser VAR_026741
2 CACNA1C p.Gly406Arg VAR_026742
3 CACNA1C p.Ile1186Thr VAR_072381
4 CACNA1C p.Arg518Cys VAR_075154
5 CACNA1C p.Arg518His VAR_075155

Expression for Timothy Syndrome

Search GEO for disease gene expression data for Timothy Syndrome.

Pathways for Timothy Syndrome

Pathways related to Timothy Syndrome according to GeneCards Suite gene sharing:

(show all 47)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.54 SCN5A SCN4B RYR2 CAMK2G CACNA2D1 CACNA1S
2
Show member pathways
13.3 RYR2 CAMK2G CACNA2D1 CACNA1S CACNA1F CACNA1D
3
Show member pathways
13.04 CAMK2G CACNA2D1 CACNA1S CACNA1F CACNA1D CACNA1C
4
Show member pathways
13.03 SCN5A SCN4B CACNA2D1 CACNA1S CACNA1F CACNA1D
5
Show member pathways
12.92 CAMK2G CACNA2D1 CACNA1S CACNA1F CACNA1D CACNA1C
6
Show member pathways
12.91 RYR2 CAMK2G CACNA1S CACNA1F CACNA1D CACNA1C
7
Show member pathways
12.86 CAMK2G CACNA2D1 CACNA1S CACNA1F CACNA1D CACNA1C
8
Show member pathways
12.84 CACNA2D1 CACNA1S CACNA1F CACNA1D CACNA1C
9
Show member pathways
12.78 RYR2 KCNQ1 KCNJ2 CAMK2G CACNA1S CACNA1F
10 12.74 CACNA2D1 CACNA1S CACNA1F CACNA1D CACNA1C
11
Show member pathways
12.72 SNTA1 RYR2 CACNA2D1 CACNA1S CACNA1F CACNA1D
12
Show member pathways
12.64 CAMK2G CACNA1S CACNA1F CACNA1D CACNA1C
13
Show member pathways
12.53 RYR2 CAMK2G CACNA1S CACNA1D CACNA1C
14
Show member pathways
12.51 CACNA1S CACNA1F CACNA1D CACNA1C
15
Show member pathways
12.5 SCN5A SCN4B RYR2 KCNQ1 KCNE1 CAMK2G
16
Show member pathways
12.49 CAMK2G CACNA1S CACNA1D CACNA1C
17
Show member pathways
12.47 RYR2 KCNJ2 CAMK2G CACNA2D1 CACNA1S CACNA1F
18 12.39 RYR2 CAMK2G CACNA1S CACNA1F CACNA1D CACNA1C
19
Show member pathways
12.37 CAMK2G CACNA2D1 CACNA1S CACNA1F CACNA1D CACNA1C
20
Show member pathways
12.34 RYR2 CAMK2G CACNA1S CACNA1F CACNA1D CACNA1C
21 12.33 KCNQ1 KCNJ2 KCNH2 KCNE2 KCNE1 CACNA1S
22
Show member pathways
12.29 RYR2 CACNA2D1 CACNA1S CACNA1F CACNA1D CACNA1C
23
Show member pathways
12.23 SCN5A SCN4B RYR2 KCNQ1 KCNJ2 KCNH2
24
Show member pathways
12.19 KCNQ1 KCNJ2 KCNE2 CAMK2G
25
Show member pathways
12.19 RYR2 CACNA2D1 CACNA1S CACNA1F CACNA1D CACNA1C
26 12.19 SNTA1 SCN5A SCN4B RYR2 KCNQ1 KCNH2
27 12.14 CACNA1S CACNA1F CACNA1D CACNA1C
28 12.12 RYR2 CACNA2D1 CACNA1S CACNA1F CACNA1D CACNA1C
29
Show member pathways
12.1 CACNA2D1 CACNA1S CACNA1F CACNA1D CACNA1C
30 11.99 CACNA1S CACNA1F CACNA1D CACNA1C
31
Show member pathways
11.97 SCN5A SCN4B ANK2
32
Show member pathways
11.97 CACNA1S CACNA1D CACNA1C
33
Show member pathways
11.94 CAMK2G CACNA1D CACNA1C
34 11.87 RYR2 CACNA2D1 CACNA1S CACNA1F CACNA1D CACNA1C
35 11.77 KCNJ2 CACNA1S CACNA1F CACNA1D CACNA1C
36
Show member pathways
11.77 SCN5A SCN4B KCNQ1 KCNE2 KCNE1 CAMK2G
37 11.74 CACNA2D1 CACNA1S CACNA1F CACNA1D CACNA1C
38 11.71 CACNA1S CACNA1F CACNA1D CACNA1C
39 11.61 KCNQ1 CACNA2D1 CACNA1S CACNA1F CACNA1D CACNA1C
40 11.57 RYR2 CACNA2D1 CACNA1S CACNA1D CACNA1C
41 11.44 SCN5A SCN4B RYR2 KCNQ1 KCNJ2 KCNH2
42 11.39 CACNA1S CACNA1D CACNA1C
43 11.28 SCN5A SCN4B ANK2
44
Show member pathways
11.11 CACNA1F CACNA1D CACNA1C
45 11.06 KCNQ1 KCNJ2 KCNE1
46 10.76 CACNA1D CACNA1C
47 10.76 CACNA2D1 CACNA1S

GO Terms for Timothy Syndrome

Cellular components related to Timothy Syndrome according to GeneCards Suite gene sharing:

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 10.39 SNTA1 SCN5A SCN4B RYR2 KCNQ1 KCNJ2
2 plasma membrane GO:0005886 10.33 SNTA1 SCN5A SCN4B RYR2 KCNQ1 KCNJ2
3 integral component of membrane GO:0016021 10.32 SCN5A SCN4B RYR2 KCNQ1 KCNJ2 KCNH2
4 cell surface GO:0009986 9.95 SCN5A KCNH2 KCNE2 KCNE1 CAV3
5 voltage-gated potassium channel complex GO:0008076 9.83 KCNQ1 KCNJ2 KCNH2 KCNE2 KCNE1
6 membrane raft GO:0045121 9.8 KCNQ1 KCNE1 CAV3 ANK2
7 intercalated disc GO:0014704 9.77 SCN5A SCN4B KCNJ2 CAV3 ANK2
8 sarcolemma GO:0042383 9.73 SNTA1 SCN5A RYR2 CAV3 CACNA1C ANK2
9 sarcoplasmic reticulum GO:0016529 9.65 RYR2 CAMK2G CACNA2D1
10 L-type voltage-gated calcium channel complex GO:1990454 9.62 CACNA2D1 CACNA1S CACNA1D CACNA1C
11 voltage-gated calcium channel complex GO:0005891 9.55 CACNA2D1 CACNA1S CACNA1F CACNA1D CACNA1C
12 dystrophin-associated glycoprotein complex GO:0016010 9.54 SNTA1 CAV3
13 voltage-gated sodium channel complex GO:0001518 9.52 SCN5A SCN4B
14 Z disc GO:0030018 9.5 SCN5A RYR2 KCNE1 CAV3 CACNA1D CACNA1C
15 T-tubule GO:0030315 9.17 SCN5A KCNJ2 CAV3 CACNA2D1 CACNA1S CACNA1C

Biological processes related to Timothy Syndrome according to GeneCards Suite gene sharing:

(show top 50) (show all 60)
# Name GO ID Score Top Affiliating Genes
1 transmembrane transport GO:0055085 10.22 SCN5A RYR2 KCNQ1 KCNH2 CACNA1S CACNA1F
2 ion transport GO:0006811 10.22 SCN5A SCN4B RYR2 KCNQ1 KCNJ2 KCNH2
3 calcium ion transmembrane transport GO:0070588 10.06 RYR2 CACNA2D1 CACNA1S CACNA1F CACNA1D CACNA1C
4 potassium ion transport GO:0006813 10.04 KCNQ1 KCNJ2 KCNH2 KCNE2 KCNE1
5 potassium ion transmembrane transport GO:0071805 10.03 KCNQ1 KCNJ2 KCNH2 KCNE2 KCNE1
6 calcium ion transport GO:0006816 10.02 RYR2 CAMK2G CACNA2D1 CACNA1S CACNA1F CACNA1D
7 cardiac muscle cell action potential involved in contraction GO:0086002 9.97 SCN5A SCN4B KCNJ2 KCNE2 KCNE1 CACNA2D1
8 ventricular cardiac muscle cell action potential GO:0086005 9.97 SNTA1 SCN5A RYR2 KCNQ1 KCNH2 KCNE2
9 cardiac muscle contraction GO:0060048 9.96 SCN5A SCN4B RYR2 KCNQ1 KCNH2
10 regulation of ventricular cardiac muscle cell membrane repolarization GO:0060307 9.96 SNTA1 SCN5A SCN4B KCNQ1 KCNH2 KCNE2
11 regulation of calcium ion transport GO:0051924 9.91 CAV3 CAMK2G CACNA2D1 ANK2
12 muscle contraction GO:0006936 9.9 SNTA1 CAV3 CACNA1S
13 calcium ion import GO:0070509 9.9 CACNA1S CACNA1F CACNA1D CACNA1C
14 regulation of heart rate by cardiac conduction GO:0086091 9.9 SCN5A SCN4B KCNQ1 KCNJ2 KCNH2 KCNE2
15 regulation of potassium ion transmembrane transport GO:1901379 9.89 KCNH2 KCNE2 KCNE1 CACNA1D
16 regulation of heart rate GO:0002027 9.89 SNTA1 SCN5A RYR2 CAV3 ANK2
17 cellular response to drug GO:0035690 9.88 KCNQ1 KCNH2 KCNE2
18 positive regulation of potassium ion transmembrane transport GO:1901381 9.88 KCNQ1 KCNJ2 KCNH2 KCNE1
19 potassium ion export across plasma membrane GO:0097623 9.87 KCNQ1 KCNH2 KCNE2 KCNE1
20 potassium ion import across plasma membrane GO:1990573 9.86 KCNJ2 KCNH2 KCNE2
21 membrane repolarization during ventricular cardiac muscle cell action potential GO:0098915 9.85 KCNQ1 KCNH2 KCNE2 KCNE1
22 membrane depolarization during cardiac muscle cell action potential GO:0086012 9.85 SCN5A SCN4B KCNJ2 CACNA1D CACNA1C
23 membrane repolarization GO:0086009 9.84 KCNQ1 KCNH2 KCNE2 KCNE1
24 regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion GO:0010881 9.83 RYR2 CACNA1C ANK2
25 regulation of cardiac muscle contraction GO:0055117 9.83 RYR2 CAV3 ANK2
26 regulation of membrane repolarization GO:0060306 9.83 KCNQ1 KCNJ2 KCNH2 KCNE2
27 membrane repolarization during action potential GO:0086011 9.83 KCNQ1 KCNJ2 KCNH2 KCNE2 KCNE1
28 calcium ion transport into cytosol GO:0060402 9.82 RYR2 CACNA2D1 CACNA1C
29 regulation of cardiac muscle cell contraction GO:0086004 9.82 SCN5A KCNJ2 ANK2
30 membrane repolarization during cardiac muscle cell action potential GO:0086013 9.81 KCNQ1 KCNJ2 KCNH2 KCNE1
31 atrial cardiac muscle cell action potential GO:0086014 9.8 SCN5A KCNQ1 ANK2
32 regulation of atrial cardiac muscle cell membrane repolarization GO:0060372 9.79 SCN5A KCNQ1 CACNA1D
33 membrane depolarization during SA node cell action potential GO:0086046 9.78 SCN5A CACNA1D ANK2
34 regulation of sodium ion transmembrane transporter activity GO:2000649 9.73 SCN4B CAV3
35 membrane depolarization during action potential GO:0086010 9.72 SCN5A KCNH2
36 positive regulation of sodium ion transport GO:0010765 9.72 SCN5A SCN4B
37 negative regulation of delayed rectifier potassium channel activity GO:1902260 9.72 KCNE2 KCNE1
38 cell communication by electrical coupling involved in cardiac conduction GO:0086064 9.72 RYR2 CACNA1C
39 cellular response to epinephrine stimulus GO:0071872 9.72 RYR2 KCNQ1
40 negative regulation of potassium ion transmembrane transport GO:1901380 9.71 KCNH2 CAV3
41 regulation of ventricular cardiac muscle cell action potential GO:0098911 9.71 RYR2 CACNA1C
42 cellular response to caffeine GO:0071313 9.71 RYR2 CACNA1S
43 positive regulation of adenylate cyclase activity GO:0045762 9.71 CACNA1D CACNA1C
44 T-tubule organization GO:0033292 9.71 CAV3 ANK2
45 regulation of sodium ion transmembrane transport GO:1902305 9.7 SNTA1 SCN5A
46 regulation of ventricular cardiac muscle cell membrane depolarization GO:0060373 9.7 SCN5A CAV3
47 regulation of cardiac muscle contraction by calcium ion signaling GO:0010882 9.7 RYR2 ANK2
48 cardiac conduction GO:0061337 9.7 SCN5A KCNQ1 KCNJ2 KCNH2 KCNE2 KCNE1
49 regulation of delayed rectifier potassium channel activity GO:1902259 9.69 KCNE2 KCNE1
50 SA node cell action potential GO:0086015 9.69 SCN5A ANK2

Molecular functions related to Timothy Syndrome according to GeneCards Suite gene sharing:

(show all 21)
# Name GO ID Score Top Affiliating Genes
1 calmodulin binding GO:0005516 9.95 SNTA1 SCN5A RYR2 KCNQ1 CAMK2G CACNA1S
2 potassium channel activity GO:0005267 9.84 KCNQ1 KCNH2 KCNE2 KCNE1
3 voltage-gated calcium channel activity GO:0005245 9.83 CACNA2D1 CACNA1S CACNA1F CACNA1D CACNA1C
4 voltage-gated potassium channel activity GO:0005249 9.81 KCNQ1 KCNH2 KCNE2 KCNE1
5 delayed rectifier potassium channel activity GO:0005251 9.8 KCNQ1 KCNH2 KCNE2 KCNE1
6 calcium channel activity GO:0005262 9.8 RYR2 CACNA2D1 CACNA1S CACNA1F CACNA1D CACNA1C
7 voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization GO:1902282 9.76 KCNQ1 KCNH2 KCNE2 KCNE1
8 ion channel activity GO:0005216 9.76 SCN5A RYR2 KCNQ1 KCNH2 CACNA1S CACNA1F
9 scaffold protein binding GO:0097110 9.75 SCN5A KCNQ1 KCNH2
10 sodium channel regulator activity GO:0017080 9.73 SNTA1 SCN4B CAV3
11 inward rectifier potassium channel activity GO:0005242 9.72 KCNJ2 KCNH2 KCNE2
12 nitric-oxide synthase binding GO:0050998 9.7 SNTA1 SCN5A CAV3
13 high voltage-gated calcium channel activity GO:0008331 9.67 CACNA1S CACNA1F CACNA1D CACNA1C
14 voltage-gated calcium channel activity involved in cardiac muscle cell action potential GO:0086007 9.65 CACNA2D1 CACNA1D CACNA1C
15 ion channel binding GO:0044325 9.61 SNTA1 SCN5A SCN4B RYR2 KCNQ1 KCNE2
16 ankyrin binding GO:0030506 9.6 SCN5A CACNA1D
17 alpha-actinin binding GO:0051393 9.59 CACNA1D CACNA1C
18 protein kinase A catalytic subunit binding GO:0034236 9.58 RYR2 KCNQ1
19 voltage-gated sodium channel activity involved in cardiac muscle cell action potential GO:0086006 9.57 SCN5A SCN4B
20 voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization GO:0086008 9.56 KCNQ1 KCNJ2 KCNH2 KCNE1
21 voltage-gated ion channel activity GO:0005244 9.4 SCN5A SCN4B KCNQ1 KCNJ2 KCNH2 KCNE2

Sources for Timothy Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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