TS
MCID: TMT001
MIFTS: 55

Timothy Syndrome (TS)

Categories: Genetic diseases, Rare diseases

Aliases & Classifications for Timothy Syndrome

MalaCards integrated aliases for Timothy Syndrome:

Name: Timothy Syndrome 57 12 25 20 43 58 73 29 13 6 44 15 39 71
Long Qt Syndrome with Syndactyly 57 25 20 43 73
Lqt8 20 43 58
Ts 57 43 73
Long Qt Syndrome Type 8 25 58
Long Qt Syndrome-Syndactyly Syndrome 58
Long Qt Syndrome 8 20

Characteristics:

Orphanet epidemiological data:

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

OMIM®:

57 (Updated 05-Mar-2021)
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:
Inheritance autosomal dominant inheritance


GeneReviews:

25
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

MedlinePlus Genetics : 43 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 Developmental Biology. Affiliated tissues include heart 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.

GARD : 20 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® : 57 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) (Updated 05-Mar-2021)

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 in the Timothy Syndrome family:

Timothy Syndrome Type 1 Timothy Syndrome Type 2

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

(show top 50) (show all 114)
# Related Disease Score Top Affiliating Genes
1 chromosome 2q35 duplication syndrome 31.0 KCNQ1 KCNJ2 KCNH2 CACNA1C
2 cardiac arrest 30.1 SCN5A RYR2 KCNQ1 KCNH2 CACNA2D1 ANK2
3 ventricular fibrillation, paroxysmal familial, 1 30.0 SCN5A RYR2 KCNQ1 KCNH2 KCNE2 KCNE1
4 atrioventricular block 30.0 SCN5A RYR2 KCNQ1 KCNH2 KCNE2 KCNE1
5 cardiac conduction defect 30.0 SCN5A RYR2 KCNQ1 KCNH2 CACNA1C
6 cardiac arrhythmia 29.0 SCN5A RYR2 KCNQ1 KCNH2 KCNE2 CACNA1C-AS1
7 atrial fibrillation 28.8 SNTA1 SCN5A SCN4B RYR2 KCNQ1 KCNJ2
8 familial long qt syndrome 28.7 SNTA1 SCN5A SCN4B KCNQ1 KCNH2 KCNE2
9 long qt syndrome 28.6 SNTA1 SCN5A SCN4B RYR2 KCNQ1 KCNJ2
10 long qt syndrome 3 28.4 SNTA1 SCN5A SCN4B RYR2 KCNQ1 KCNJ2
11 timothy syndrome type 1 11.1
12 timothy syndrome type 2 11.1
13 atypical timothy syndrome 11.1
14 autism spectrum disorder 10.4
15 long qt syndrome 8 10.4
16 idiopathic ventricular fibrillation, non brugada type 10.3 SCN5A RYR2 CACNA1C
17 periodic paralyses 10.3 KCNJ2 CACNA1S
18 second-degree atrioventricular block 10.3 SCN5A CACNA1D
19 right bundle branch block 10.3 SCN5A KCNH2 CACNA1C
20 first-degree atrioventricular block 10.3 SCN5A KCNJ2 KCNH2
21 developmental and epileptic encephalopathy 14 10.3 SCN5A KCNQ1 KCNH2
22 properdin deficiency, x-linked 10.3 KCNJ2 KCNH2
23 ventricular tachycardia, catecholaminergic polymorphic, 3 10.3 RYR2 KCNJ2
24 long qt syndrome 15 10.2 KCNJ2 KCNE1 CACNA1C
25 myopathy, congenital, bailey-bloch 10.2 CACNA1S CACNA1C
26 hypoglycemia 10.2
27 erythromelalgia 10.2 SCN5A SCN4B PSMC4
28 fleck retina, familial benign 10.2 CACNA1F CACNA1D CACNA1C
29 familial short qt syndrome 10.2 KCNQ1 KCNJ2 KCNH2 CACNA2D1
30 hyperkalemic periodic paralysis 10.2 SCN5A KCNJ2 CACNA1S
31 anhidrosis, isolated, with normal sweat glands 10.2 RYR2 CACNA1C
32 neuromuscular junction disease 10.2 SCN5A RYR2 KCNH2 CACNA1C
33 third-degree atrioventricular block 10.2 SCN5A KCNJ2 KCNH2 CACNA1D
34 central core disease of muscle 10.2 RYR2 CACNA1S
35 deafness, autosomal recessive 98 10.2 KCNQ1 KCNE2 KCNE1
36 paramyotonia congenita of von eulenburg 10.2 SCN5A KCNJ2 CACNA1S
37 syncope 10.2 SCN5A RYR2 KCNQ1 KCNH2
38 noonan syndrome with multiple lentigines 10.2 SCN5A RYR2 KCNQ1 KCNH2
39 progressive familial heart block, type ia 10.1 SCN5A ANK2
40 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a 10.1 SCN5A KCNQ1 KCNH2 CACNA1C
41 congestive heart failure 10.1 SCN5A RYR2 KCNQ1 CACNA1C
42 isolated elevated serum creatine phosphokinase levels 10.1 SCN5A RYR2 CAV3 CACNA1C
43 autism 10.1
44 hypokalemia 10.1 KCNQ1 KCNH2 CACNA1S CACNA1D
45 long qt syndrome 14 10.1 SCN5A KCNQ1 KCNJ2 KCNH2 CACNA1C
46 sick sinus syndrome 10.1 SNTA1 SCN5A CACNA1C ANK2
47 brugada syndrome 3 10.1 KCNE2 CACNA1C-AS1 CACNA1C ANK2
48 progressive familial heart block 10.1 SCN5A RYR2 KCNQ1 KCNH2 CACNA1C
49 spinocerebellar ataxia 6 10.1 CACNA1S CACNA1F CACNA1D CACNA1C
50 arrhythmogenic right ventricular dysplasia, familial, 12 10.1 RYR2 KCNH2

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 25)
# 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 sudden death 31 HP:0001699
24 bradycardia 31 HP:0001662
25 cutaneous syndactyly 31 HP:0012725

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
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 (Updated 05-Mar-2021)

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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.03 CACNA1C CACNA1D CACNA1F CACNA1S CACNA2D1 KCNJ2
2 cardiovascular system MP:0005385 9.9 CACNA1C CACNA1D CACNA1F CACNA1S CACNA2D1 CAV3
3 muscle MP:0005369 9.65 CACNA1C CACNA1S CACNA2D1 CAV3 KCNH2 KCNJ2
4 nervous system MP:0003631 9.36 CACNA1C CACNA1D CACNA1F CACNA1S CACNA2D1 KCNQ1

Drugs & Therapeutics for Timothy Syndrome

Search Clinical Trials , 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, Brain

Publications for Timothy Syndrome

Articles related to Timothy Syndrome:

(show top 50) (show all 139)
# Title Authors PMID Year
1
Expanding the phenotype of Timothy syndrome type 2: an adolescent with ventricular fibrillation but normal development. 61 57 6 25
25691416 2015
2
Severe arrhythmia disorder caused by cardiac L-type calcium channel mutations. 57 61 6 25
15863612 2005
3
Ca(V)1.2 calcium channel dysfunction causes a multisystem disorder including arrhythmia and autism. 6 57 25 61
15454078 2004
4
Somatic mosaicism contributes to phenotypic variation in Timothy syndrome. 57 6 61
21910241 2011
5
Using induced pluripotent stem cells to investigate cardiac phenotypes in Timothy syndrome. 61 57 6
21307850 2011
6
Long QT syndrome associated with syndactyly identified in females. 25 57
7572644 1995
7
[The heart-hand syndrome. A new variant of disorders of heart conduction and syndactylia including osseous changes in hands and feet]. 57 25
1318983 1992
8
The Timothy syndrome mutation differentially affects voltage- and calcium-dependent inactivation of CaV1.2 L-type calcium channels. 6 61
18250309 2008
9
Cyclosporin and Timothy syndrome increase mode 2 gating of CaV1.2 calcium channels through aberrant phosphorylation of S6 helices. 57 61
16537462 2006
10
Gain-of-function mutations in the calcium channel CACNA1C (Cav1.2) cause non-syndromic long-QT but not Timothy syndrome. 61 25
25633834 2015
11
Long QT syndrome type 8: novel CACNA1C mutations causing QT prolongation and variant phenotypes. 61 25
24728418 2014
12
Inhibition of late sodium current by mexiletine: a novel pharmotherapeutical approach in timothy syndrome. 25 61
23580742 2013
13
Ranolazine safely decreases ventricular and atrial fibrillation in Timothy syndrome (LQT8). 61 25
20883512 2012
14
Long QT, syndactyly, joint contractures, stroke and novel CACNA1C mutation: expanding the spectrum of Timothy syndrome. 61 25
22106044 2012
15
Verapamil decreases ventricular tachyarrhythmias in a patient with Timothy syndrome (LQT8). 61 25
16876748 2006
16
Phenotypical manifestations of mutations in the genes encoding subunits of the cardiac voltage-dependent L-type calcium channel. 25
21372292 2011
17
Syndactyly and long QT syndrome (CaV1.2 missense mutation G406R) is associated with hypertrophic cardiomyopathy. 25
16360093 2005
18
A new form of long QT syndrome associated with syndactyly. 25
7798527 1995
19
Voltage-Gated Calcium Channels in Nonexcitable Tissues. 61
33106102 2021
20
Long-term follow-up of a patient with type 2 Timothy syndrome and the partial efficacy of mexiletine. 61
33524520 2021
21
Novel Gain-of-Function Variant in CACNA1C Associated With Timothy Syndrome, Multiple Accessory Pathways, and Noncompaction Cardiomyopathy. 61
33191761 2020
22
Clinical characterization and outcome of prolonged heart rate-corrected QT interval among children with syndactyly. 61
33080735 2020
23
Timothy syndrome iPSC modeling. 61
32629111 2020
24
A mouse model of Timothy syndrome exhibits altered social competitive dominance and inhibitory neuron development. 61
32598571 2020
25
Elevated basal transcription can underlie timothy channel association with autism related disorders. 61
32437834 2020
26
Cav1.2 channelopathies causing autism: new hallmarks on Timothy syndrome. 61
32621084 2020
27
CACNA1C haploinsufficiency accounts for the common features of interstitial 12p13.33 deletion carriers. 61
31953239 2020
28
An autism-causing calcium channel variant functions with selective autophagy to alter axon targeting and behavior. 61
31805042 2019
29
Aberrant calcium channel splicing drives defects in cortical differentiation in Timothy syndrome. 61
31868578 2019
30
Photosensitive epilepsy and long QT: expanding Timothy syndrome phenotype. 61
31563812 2019
31
Cardiac-only Timothy Syndrome (COTS): Peripartum Cardiomyopathy and Long QT Syndrome. 61
31097345 2019
32
Dysfunctional Cav1.2 channel in Timothy syndrome, from cell to bedside. 61
31324123 2019
33
Unusual clinical description of adult with Timothy syndrome, carrier of a new heterozygote mutation of CACNA1C. 61
30998997 2019
34
Impaired chromaffin cell excitability and exocytosis in autistic Timothy syndrome TS2-neo mouse rescued by L-type calcium channel blockers. 61
30629744 2019
35
Atomic Mechanisms of Timothy Syndrome-Associated Mutations in Calcium Channel Cav1.2. 61
30984024 2019
36
Expanding clinical phenotype in CACNA1C related disorders: From neonatal onset severe epileptic encephalopathy to late-onset epilepsy. 61
30513141 2018
37
A C. elegans model for the rare human channelopathy, Timothy syndrome type 1. 61
32550369 2018
38
Enhanced oligodendrocyte maturation and myelination in a mouse model of Timothy syndrome. 61
30151840 2018
39
Dynamic Electrocardiographic Abnormalities Captured in Timothy Syndrome. 61
30466860 2018
40
Timothy syndrome-like condition with syndactyly but without prolongation of the QT interval. 61
29736926 2018
41
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
42
A Critical Neurodevelopmental Role for L-Type Voltage-Gated Calcium Channels in Neurite Extension and Radial Migration. 61
29773754 2018
43
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
44
Clinical Outcomes and Modes of Death in Timothy Syndrome: A Multicenter International Study of a Rare Disorder. 61
30067485 2018
45
A multicentre study of patients with Timothy syndrome. 61
28371864 2018
46
Comprehensive analysis of two Shank3 and the Cacna1c mouse models of autism spectrum disorder. 61
28753255 2018
47
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
48
The landscape of human mutually exclusive splicing. 61
29242366 2017
49
Depletion of Stercobilin in Fecal Matter from a Mouse Model of Autism Spectrum Disorders. 61
29147105 2017
50
Altered Cav1.2 function in the Timothy syndrome mouse model produces ascending serotonergic abnormalities. 61
28921675 2017

Variations for Timothy Syndrome

ClinVar genetic disease variations for Timothy Syndrome:

6 (show top 50) (show all 55)
# 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.4418C>G (p.Ala1473Gly) SNV Pathogenic 196966 rs794727587 12:2774766-2774766 12:2665600-2665600
4 CACNA1C NM_000719.7(CACNA1C):c.1114-304G>A SNV Pathogenic 190633 rs786205745 12:2613704-2613704 12:2504538-2504538
5 CACNA1C NM_000719.7(CACNA1C):c.1114-304G>C SNV Pathogenic 190634 rs786205745 12:2613704-2613704 12:2504538-2504538
6 CACNA1C NM_000719.7(CACNA1C):c.722T>C (p.Val241Ala) SNV Likely pathogenic 973262 12:2566837-2566837 12:2457671-2457671
7 CACNA1C NM_000719.7(CACNA1C):c.2579G>A (p.Arg860Gln) SNV Likely pathogenic 190654 rs730880056 12:2702427-2702427 12:2593261-2593261
8 CACNA1C NM_000719.7(CACNA1C):c.2579G>C (p.Arg860Pro) SNV Likely pathogenic 180284 rs730880056 12:2702427-2702427 12:2593261-2593261
9 CACNA1C NM_000719.7(CACNA1C):c.1113G>A (p.Trp371Ter) SNV Likely pathogenic 802809 rs1555672574 12:2602552-2602552 12:2493386-2493386
10 CACNA1C NM_000719.7(CACNA1C):c.2542GAG[2] (p.Glu850del) Microsatellite Uncertain significance 155776 rs575583988 12:2702396-2702398 12:2593224-2593226
11 CACNA1C NM_000719.7(CACNA1C):c.4289A>C (p.Lys1430Thr) SNV Uncertain significance 802810 rs759934820 12:2774047-2774047 12:2664881-2664881
12 CACNA1C-AS1 NM_000719.7(CACNA1C):c.5731G>C (p.Gly1911Arg) SNV Uncertain significance 191427 rs374528680 12:2795382-2795382 12:2686216-2686216
13 CACNA1C-AS1 NM_000719.7(CACNA1C):c.6040G>A (p.Val2014Ile) SNV Uncertain significance 67556 rs199473660 12:2797868-2797868 12:2688702-2688702
14 CACNA1C-AS1 NM_000719.7(CACNA1C):c.5549A>C (p.Glu1850Ala) SNV Uncertain significance 660329 rs375846068 12:2791820-2791820 12:2682654-2682654
15 CACNA1C NM_000719.7(CACNA1C):c.1523G>A (p.Arg508Gln) SNV Uncertain significance 931388 12:2675602-2675602 12:2566436-2566436
16 CACNA1C NM_000719.7(CACNA1C):c.1217+5G>A SNV Uncertain significance 931926 12:2614116-2614116 12:2504950-2504950
17 CACNA1C NM_000719.7(CACNA1C):c.3331G>A (p.Val1111Ile) SNV Uncertain significance 411719 rs766023530 12:2716271-2716271 12:2607105-2607105
18 CACNA1C NM_000719.7(CACNA1C):c.3679G>A (p.Val1227Ile) SNV Uncertain significance 234984 rs373124557 12:2719827-2719827 12:2610661-2610661
19 CACNA1C-AS1 NM_000719.7(CACNA1C):c.5098G>A (p.Gly1700Ser) SNV Uncertain significance 526905 rs761966966 12:2788616-2788616 12:2679450-2679450
20 CACNA1C-AS1 NM_000719.7(CACNA1C):c.5120T>C (p.Val1707Ala) SNV Uncertain significance 190622 rs531161884 12:2788638-2788638 12:2679472-2679472
21 CACNA1C-AS1 NM_000719.7(CACNA1C):c.5456G>A (p.Arg1819Gln) SNV Uncertain significance 456980 rs764212214 12:2791727-2791727 12:2682561-2682561
22 CACNA1C-AS1 NM_000719.7(CACNA1C):c.6001G>A (p.Gly2001Ser) SNV Uncertain significance 575699 rs552478740 12:2797829-2797829 12:2688663-2688663
23 CACNA1C-AS1 NM_000719.7(CACNA1C):c.6011G>T (p.Gly2004Val) SNV Uncertain significance 456989 rs374991642 12:2797839-2797839 12:2688673-2688673
24 CACNA1C NM_000719.7(CACNA1C):c.2T>C (p.Met1Thr) SNV Uncertain significance 190710 rs761378545 12:2162730-2162730 12:2053564-2053564
25 CACNA1C NM_000719.7(CACNA1C):c.65G>T (p.Ser22Ile) SNV Uncertain significance 578454 rs769703001 12:2224405-2224405 12:2115239-2115239
26 CACNA1C NM_000719.7(CACNA1C):c.98A>G (p.Asn33Ser) SNV Uncertain significance 190679 rs535608443 12:2224438-2224438 12:2115272-2115272
27 CACNA1C NM_000719.7(CACNA1C):c.1412C>A (p.Thr471Asn) SNV Uncertain significance 637979 rs1599718556 12:2659130-2659130 12:2549964-2549964
28 CACNA1C NM_000719.7(CACNA1C):c.2269G>C (p.Ala757Pro) SNV Uncertain significance 637980 rs560163331 12:2693713-2693713 12:2584547-2584547
29 CACNA1C NM_000719.7(CACNA1C):c.4761G>A (p.Ala1587=) SNV Uncertain significance 264555 rs756364065 12:2783741-2783741 12:2674575-2674575
30 CACNA1C NM_000719.7(CACNA1C):c.1486C>T (p.Arg496Trp) SNV Uncertain significance 190699 rs760888275 12:2666121-2666121 12:2556955-2556955
31 CACNA1C NM_000719.7(CACNA1C):c.-233C>T SNV Uncertain significance 307972 rs886049148 12:2162496-2162496 12:2053330-2053330
32 CACNA1C NM_000719.7(CACNA1C):c.4727-9G>A SNV Uncertain significance 190618 rs757966245 12:2783698-2783698 12:2674532-2674532
33 CACNA1C-AS1 NM_000719.7(CACNA1C):c.5023G>A (p.Ala1675Thr) SNV Uncertain significance 308159 rs773930851 12:2786965-2786965 12:2677799-2677799
34 CACNA1C NM_000719.7(CACNA1C):c.2437G>A (p.Gly813Arg) SNV Uncertain significance 308139 rs545511851 12:2694639-2694639 12:2585473-2585473
35 CACNA1C-AS1 NM_000719.7(CACNA1C):c.6235_6237del (p.Asp2079del) Deletion Uncertain significance 308163 rs886049208 12:2800182-2800184 12:2691016-2691018
36 CACNA1C NM_000719.7(CACNA1C):c.202G>A (p.Ala68Thr) SNV Uncertain significance 190709 rs752000790 12:2224542-2224542 12:2115376-2115376
37 CACNA1C NM_000719.7(CACNA1C):c.*1652GAATT[1] Microsatellite Uncertain significance 308189 rs886049224 12:2802016-2802020 12:2692850-2692854
38 CACNA1C-AS1 NM_000719.7(CACNA1C):c.5731G>C (p.Gly1911Arg) SNV Uncertain significance 191427 rs374528680 12:2795382-2795382 12:2686216-2686216
39 CACNA1C NM_000719.7(CACNA1C):c.1917C>G (p.Asn639Lys) SNV Uncertain significance 393134 rs1057524804 12:2690777-2690777 12:2581611-2581611
40 CACNA1C-AS1 NM_000719.7(CACNA1C):c.6272A>G (p.Asn2091Ser) SNV Uncertain significance 216482 rs201090446 12:2800220-2800220 12:2691054-2691054
41 CACNA1C NM_000719.7(CACNA1C):c.3679G>A (p.Val1227Ile) SNV Uncertain significance 234984 rs373124557 12:2719827-2719827 12:2610661-2610661
42 CACNA1C NM_000719.7(CACNA1C):c.6388G>A (p.Asp2130Asn) SNV Uncertain significance 67557 rs199473392 12:2800336-2800336 12:2691170-2691170
43 CACNA1C NM_000719.7(CACNA1C):c.1917C>A (p.Asn639Lys) SNV Uncertain significance 560694 rs1057524804 12:2690777-2690777 12:2581611-2581611
44 CACNA1C-AS1 NM_000719.7(CACNA1C):c.5065G>A (p.Ala1689Thr) SNV Uncertain significance 190677 rs368700869 12:2787007-2787007 12:2677841-2677841
45 CACNA1C-AS1 NM_000719.7(CACNA1C):c.5485GAG[1] (p.Glu1830del) Microsatellite Uncertain significance 692251 rs1603457578 12:2791754-2791756 12:2682588-2682590
46 CACNA1C-AS1 NM_000719.7(CACNA1C):c.4942G>A (p.Ala1648Thr) SNV Uncertain significance 197406 rs370432385 12:2786373-2786373 12:2677207-2677207
47 CACNA1C NM_000719.7(CACNA1C):c.4436T>C (p.Phe1479Ser) SNV Uncertain significance 992575 12:2774784-2774784 12:2665618-2665618
48 CACNA1C NM_000719.7(CACNA1C):c.1468G>A (p.Gly490Arg) SNV Uncertain significance 17634 rs121912775 12:2659186-2659186 12:2550020-2550020
49 CACNA1C NM_000719.7(CACNA1C):c.71G>A (p.Arg24His) SNV Uncertain significance 93422 rs200941579 12:2224411-2224411 12:2115245-2115245
50 CACNA1C NM_000719.7(CACNA1C):c.579C>T (p.Asn193=) SNV Likely benign 308130 rs561224137 12:2558243-2558243 12:2449077-2449077

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 top 50) (show all 52)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.56 SCN5A SCN4B RYR2 CAMK2G CACNA2D1 CACNA1S
2
Show member pathways
13.5 SCN5A SCN4B PSMC4 CAMK2G CACNA1S CACNA1D
3
Show member pathways
13.42 RYR2 PSMC4 CAMK2G CACNA1S CACNA1F CACNA1D
4
Show member pathways
13.31 RYR2 CAMK2G CACNA2D1 CACNA1S CACNA1F CACNA1D
5
Show member pathways
13.05 CAMK2G CACNA2D1 CACNA1S CACNA1F CACNA1D CACNA1C
6
Show member pathways
13.04 SCN5A SCN4B CACNA2D1 CACNA1S CACNA1F CACNA1D
7
Show member pathways
13.01 KCNQ1 KCNJ2 KCNH2 CAMK2G CACNA2D1 AKAP9
8
Show member pathways
12.93 CAMK2G CACNA2D1 CACNA1S CACNA1F CACNA1D CACNA1C
9
Show member pathways
12.92 RYR2 CAMK2G CACNA1S CACNA1F CACNA1D CACNA1C
10
Show member pathways
12.87 CAMK2G CACNA2D1 CACNA1S CACNA1F CACNA1D CACNA1C
11
Show member pathways
12.87 RYR2 PSMC4 CAV3 CAMK2G CACNA1S CACNA1F
12
Show member pathways
12.85 CACNA2D1 CACNA1S CACNA1F CACNA1D CACNA1C
13
Show member pathways
12.79 RYR2 PSMC4 CACNA1S CACNA1D CACNA1C
14
Show member pathways
12.78 RYR2 KCNQ1 KCNJ2 CAMK2G CACNA1S CACNA1F
15 12.75 CACNA2D1 CACNA1S CACNA1F CACNA1D CACNA1C
16
Show member pathways
12.72 SNTA1 RYR2 CACNA2D1 CACNA1S CACNA1F CACNA1D
17
Show member pathways
12.65 CAMK2G CACNA1S CACNA1F CACNA1D CACNA1C
18
Show member pathways
12.54 RYR2 CAMK2G CACNA1S CACNA1D CACNA1C
19
Show member pathways
12.52 CACNA1S CACNA1F CACNA1D CACNA1C
20
Show member pathways
12.5 CAMK2G CACNA1S CACNA1D CACNA1C
21
Show member pathways
12.5 SCN5A SCN4B RYR2 KCNQ1 KCNE1 CAMK2G
22
Show member pathways
12.49 RYR2 KCNJ2 CAMK2G CACNA2D1 CACNA1S CACNA1F
23
Show member pathways
12.47 RYR2 KCNQ1 KCNJ2 KCNE2 CAMK2G
24 12.45 RYR2 CAMK2G CACNA1S CACNA1F CACNA1D CACNA1C
25 12.39 RYR2 CAMK2G CACNA1S CACNA1F CACNA1D CACNA1C
26 12.38 KCNQ1 KCNJ2 KCNH2 KCNE2 KCNE1 CACNA1S
27
Show member pathways
12.37 CAMK2G CACNA2D1 CACNA1S CACNA1F CACNA1D CACNA1C
28
Show member pathways
12.3 RYR2 CACNA2D1 CACNA1S CACNA1F CACNA1D CACNA1C
29
Show member pathways
12.25 SCN5A SCN4B RYR2 KCNQ1 KCNJ2 KCNH2
30 12.21 SNTA1 SCN5A SCN4B RYR2 KCNQ1 KCNH2
31 12.19 RYR2 CACNA2D1 CACNA1S CACNA1F CACNA1D CACNA1C
32 12.15 CACNA1S CACNA1F CACNA1D CACNA1C
33
Show member pathways
12.11 CACNA2D1 CACNA1S CACNA1F CACNA1D CACNA1C
34 12.1 RYR2 PSMC4 CACNA2D1 CACNA1S CACNA1F CACNA1D
35 12 CACNA1S CACNA1F CACNA1D CACNA1C
36
Show member pathways
11.98 SCN5A SCN4B ANK2
37
Show member pathways
11.98 CACNA1S CACNA1D CACNA1C
38
Show member pathways
11.95 CAMK2G CACNA1D CACNA1C
39 11.89 RYR2 CACNA2D1 CACNA1S CACNA1F CACNA1D CACNA1C
40 11.77 KCNJ2 CACNA1S CACNA1F CACNA1D CACNA1C
41 11.75 CACNA2D1 CACNA1S CACNA1F CACNA1D CACNA1C
42 11.71 CACNA1S CACNA1F CACNA1D CACNA1C
43 11.64 SCN5A SCN4B RYR2 KCNQ1 KCNJ2 KCNH2
44 11.61 KCNQ1 CACNA2D1 CACNA1S CACNA1F CACNA1D CACNA1C
45
Show member pathways
11.61 SCN5A SCN4B KCNQ1 KCNE2 KCNE1 CAMK2G
46 11.58 RYR2 CACNA2D1 CACNA1S CACNA1D CACNA1C
47 11.4 CACNA1S CACNA1D CACNA1C
48 11.3 SCN5A SCN4B ANK2
49
Show member pathways
11.12 CACNA1F CACNA1D CACNA1C
50 11.07 KCNQ1 KCNJ2 KCNE1

GO Terms for Timothy Syndrome

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

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 10.41 SNTA1 SCN5A SCN4B RYR2 PSMC4 KCNQ1
2 plasma membrane GO:0005886 10.34 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 9.96 SCN5A KCNH2 KCNE2 KCNE1 CAV3
5 sarcolemma GO:0042383 9.85 SNTA1 SCN5A RYR2 CAV3 CACNA1C ANK2
6 membrane raft GO:0045121 9.83 KCNQ1 KCNE1 CAV3 ANK2
7 intercalated disc GO:0014704 9.8 SCN5A SCN4B KCNJ2 CAV3 ANK2
8 voltage-gated potassium channel complex GO:0008076 9.73 KCNQ1 KCNJ2 KCNH2 KCNE2 KCNE1 AKAP9
9 lateral plasma membrane GO:0016328 9.67 SNTA1 SCN5A KCNQ1
10 sarcoplasmic reticulum GO:0016529 9.65 RYR2 CAMK2G CACNA2D1
11 L-type voltage-gated calcium channel complex GO:1990454 9.62 CACNA2D1 CACNA1S CACNA1D CACNA1C
12 dystrophin-associated glycoprotein complex GO:0016010 9.55 SNTA1 CAV3
13 voltage-gated calcium channel complex GO:0005891 9.55 CACNA2D1 CACNA1S CACNA1F CACNA1D CACNA1C
14 voltage-gated sodium channel complex GO:0001518 9.54 SCN5A SCN4B
15 Z disc GO:0030018 9.5 SCN5A RYR2 KCNE1 CAV3 CACNA1D CACNA1C
16 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 66)
# Name GO ID Score Top Affiliating Genes
1 transmembrane transport GO:0055085 10.22 SCN5A RYR2 PSMC4 KCNQ1 KCNH2 CACNA1S
2 ion transport GO:0006811 10.22 SCN5A SCN4B RYR2 KCNQ1 KCNJ2 KCNH2
3 calcium ion transport GO:0006816 10.07 RYR2 CACNA2D1 CACNA1S CACNA1F CACNA1D CACNA1C
4 calcium ion transmembrane transport GO:0070588 10.06 RYR2 CACNA2D1 CACNA1S CACNA1F CACNA1D CACNA1C
5 potassium ion transport GO:0006813 10.04 KCNQ1 KCNJ2 KCNH2 KCNE2 KCNE1
6 ion transmembrane transport GO:0034220 10.03 SCN5A RYR2 KCNH2 CACNA1D
7 potassium ion transmembrane transport GO:0071805 10.03 KCNQ1 KCNJ2 KCNH2 KCNE2 KCNE1
8 regulation of ventricular cardiac muscle cell membrane repolarization GO:0060307 10 SNTA1 SCN5A SCN4B KCNQ1 KCNH2 KCNE2
9 cardiac muscle cell action potential involved in contraction GO:0086002 9.97 SCN5A SCN4B KCNJ2 KCNE2 KCNE1 CACNA2D1
10 ventricular cardiac muscle cell action potential GO:0086005 9.97 SNTA1 SCN5A RYR2 KCNQ1 KCNH2 KCNE2
11 cardiac muscle contraction GO:0060048 9.93 SCN5A SCN4B RYR2 KCNQ1 KCNH2
12 regulation of heart rate by cardiac conduction GO:0086091 9.93 SCN5A SCN4B KCNQ1 KCNJ2 KCNH2 KCNE2
13 regulation of calcium ion transport GO:0051924 9.92 CAV3 CAMK2G CACNA2D1 ANK2
14 muscle contraction GO:0006936 9.91 SNTA1 CAV3 CACNA1S
15 calcium ion import GO:0070509 9.91 CACNA1S CACNA1F CACNA1D CACNA1C
16 regulation of potassium ion transmembrane transport GO:1901379 9.9 KCNH2 KCNE2 KCNE1 CACNA1D
17 cellular response to drug GO:0035690 9.89 KCNQ1 KCNH2 KCNE2
18 regulation of heart rate GO:0002027 9.89 SNTA1 SCN5A RYR2 CAV3 ANK2
19 cellular response to cAMP GO:0071320 9.88 KCNQ1 KCNE1 AKAP9
20 potassium ion export across plasma membrane GO:0097623 9.88 KCNQ1 KCNH2 KCNE2 KCNE1
21 membrane depolarization during cardiac muscle cell action potential GO:0086012 9.88 SCN5A SCN4B KCNJ2 CACNA1D CACNA1C
22 potassium ion import across plasma membrane GO:1990573 9.86 KCNJ2 KCNH2 KCNE2
23 positive regulation of potassium ion transmembrane transport GO:1901381 9.86 KCNQ1 KCNJ2 KCNH2 KCNE1
24 membrane repolarization during ventricular cardiac muscle cell action potential GO:0098915 9.85 KCNQ1 KCNH2 KCNE2 KCNE1
25 regulation of membrane repolarization GO:0060306 9.85 KCNQ1 KCNJ2 KCNH2 KCNE2 AKAP9
26 regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion GO:0010881 9.83 RYR2 CACNA1C ANK2
27 regulation of cardiac muscle contraction GO:0055117 9.83 RYR2 CAV3 ANK2
28 negative regulation of delayed rectifier potassium channel activity GO:1902260 9.83 KCNQ1 KCNE2 KCNE1
29 membrane repolarization GO:0086009 9.83 KCNQ1 KCNH2 KCNE2 KCNE1
30 membrane repolarization during action potential GO:0086011 9.83 KCNQ1 KCNJ2 KCNH2 KCNE2 KCNE1
31 calcium ion transport into cytosol GO:0060402 9.82 RYR2 CACNA2D1 CACNA1C
32 regulation of cardiac muscle cell contraction GO:0086004 9.82 SCN5A KCNJ2 ANK2
33 membrane repolarization during cardiac muscle cell action potential GO:0086013 9.81 KCNQ1 KCNJ2 KCNH2 KCNE1
34 atrial cardiac muscle cell action potential GO:0086014 9.8 SCN5A KCNQ1 ANK2
35 regulation of atrial cardiac muscle cell membrane repolarization GO:0060372 9.8 SCN5A KCNQ1 CACNA1D
36 membrane depolarization during SA node cell action potential GO:0086046 9.79 SCN5A CACNA1D ANK2
37 regulation of sodium ion transmembrane transporter activity GO:2000649 9.74 SCN4B CAV3
38 positive regulation of proteasomal protein catabolic process GO:1901800 9.74 PSMC4 KCNE2
39 membrane depolarization during action potential GO:0086010 9.73 SCN5A KCNH2
40 positive regulation of sodium ion transport GO:0010765 9.73 SCN5A SCN4B
41 cell communication by electrical coupling involved in cardiac conduction GO:0086064 9.73 RYR2 CACNA1C
42 cellular response to epinephrine stimulus GO:0071872 9.73 RYR2 KCNQ1
43 cardiac conduction GO:0061337 9.73 SCN5A KCNQ1 KCNJ2 KCNH2 KCNE2 KCNE1
44 negative regulation of potassium ion transmembrane transport GO:1901380 9.72 KCNH2 CAV3
45 regulation of ventricular cardiac muscle cell action potential GO:0098911 9.72 RYR2 CACNA1C
46 cellular response to caffeine GO:0071313 9.72 RYR2 CACNA1S
47 positive regulation of adenylate cyclase activity GO:0045762 9.72 CACNA1D CACNA1C
48 T-tubule organization GO:0033292 9.72 CAV3 ANK2
49 regulation of sodium ion transmembrane transport GO:1902305 9.71 SNTA1 SCN5A
50 regulation of cardiac muscle cell action potential involved in regulation of contraction GO:0098909 9.71 CAV3 AKAP9

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

(show all 23)
# 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 scaffold protein binding GO:0097110 9.77 SCN5A KCNQ1 KCNH2
8 voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization GO:1902282 9.76 KCNQ1 KCNH2 KCNE2 KCNE1
9 ion channel activity GO:0005216 9.76 SCN5A RYR2 KCNQ1 KCNH2 CACNA1S CACNA1F
10 potassium channel regulator activity GO:0015459 9.75 KCNE2 KCNE1 AKAP9
11 sodium channel regulator activity GO:0017080 9.74 SNTA1 SCN4B CAV3
12 protein kinase A regulatory subunit binding GO:0034237 9.73 RYR2 KCNQ1 AKAP9
13 inward rectifier potassium channel activity GO:0005242 9.72 KCNJ2 KCNH2 KCNE2
14 nitric-oxide synthase binding GO:0050998 9.7 SNTA1 SCN5A CAV3
15 high voltage-gated calcium channel activity GO:0008331 9.67 CACNA1S CACNA1F CACNA1D CACNA1C
16 voltage-gated calcium channel activity involved in cardiac muscle cell action potential GO:0086007 9.65 CACNA2D1 CACNA1D CACNA1C
17 ion channel binding GO:0044325 9.65 SNTA1 SCN5A SCN4B RYR2 KCNQ1 KCNE2
18 ankyrin binding GO:0030506 9.61 SCN5A CACNA1D
19 alpha-actinin binding GO:0051393 9.61 CACNA1D CACNA1C
20 protein kinase A catalytic subunit binding GO:0034236 9.6 RYR2 KCNQ1
21 voltage-gated sodium channel activity involved in cardiac muscle cell action potential GO:0086006 9.58 SCN5A SCN4B
22 voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization GO:0086008 9.56 KCNQ1 KCNJ2 KCNH2 KCNE1
23 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
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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