MCID: STT041
MIFTS: 52

Stuttering

Categories: Genetic diseases, Mental diseases, Neuronal diseases

Aliases & Classifications for Stuttering

MalaCards integrated aliases for Stuttering:

Name: Stuttering 12 42 44 15 71
Stammering 12 6 71
Stuttering, Familial Persistent 1 71
Stuttering, Familial, Persistent 39
Familial Persistent Stuttering 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0060243
MeSH 44 D013342
NCIt 50 C35043
ICD10 32 F80.81 F98.5
UMLS 71 C0038131 C0038506 C0454542 more

Summaries for Stuttering

MedlinePlus : 42 What is stuttering? Stuttering is a speech disorder. It involves interruptions in the flow of speech. These interruptions are called disfluencies. They may involve Repeating sounds, syllables, or words Stretching out a sound Suddenly stopping in the middle of a syllable or word Sometimes, along with the stuttering, there may be nodding, rapid blinking, or trembling lips. The stuttering may be worse when you are stressed, excited, or tired. Stuttering can be frustrating, because you know exactly what you want to say, but you have trouble saying it. It can make it difficult to communicate with people. This can cause problems with school, work, and relationships. What causes stuttering? There are two main types of stuttering, and they have different causes: Developmental stuttering is the more common type. It starts in young children while they are still learning speech and language skills. Many children stutter when they first start talking. Most of them will outgrow it. But some continue to stutter, and the exact cause is unknown. There are differences in the brains of people who continue to stutter. Genetics may also play a role, since this type of stuttering can run in families. Neurogenic stuttering can happen after someone has a stroke, head trauma, or other type of brain injury. Because of the injury, the brain has trouble coordinating the different parts of the brain involved in speech. Who is at risk for stuttering? Stuttering can affect anyone, but it is much more common in boys than girls. Younger children are most likely to stutter. About 75 percent of children who stutter will get better. For the rest, stuttering can continue their whole lives. How is stuttering diagnosed? Stuttering is usually diagnosed by a speech-language pathologist. This is a health professional who is trained to test and treat people with voice, speech, and language disorders. If you or your child stutters, your regular health care provider may give you a referral to a speech-language pathologist. Or in some cases, a child's teacher may make a referral. To make a diagnosis, the speech-language pathologist will Look at the case history, such as when the stuttering was first noticed, how often it happens, and in what situations it happens Listen to you or your child speak and analyze the stuttering Evaluate you or your child's speech and language abilities, including the ability to understand and use language Ask about the impact of stuttering on you or your child's life Ask whether stuttering runs in the family For a child, consider how likely it is that he or she will outgrow it What are the treatments for stuttering? There are different treatments that can help with stuttering. Some of these may help one person but not another. You need to work with the speech-language pathologist to figure out the best plan for you or your child. The plan should take into account how long the stuttering has been going on and whether there are any other speech or language problems. For a child, the plan should also take into account your child's age and whether he or she is likely to outgrow the stuttering. Younger children may not need therapy right away. Their parents and teachers can learn strategies to help the child practice speaking. That can help some children. As a parent, it's important to be calm and relaxed when your child is speaking. If your child feels pressured, it can make it harder for them to talk. The speech-language pathologist will probably want to evaluate your child regularly, to see whether treatment is needed. Speech therapy can help children and adults minimize stuttering. Some techniques include Speaking more slowly Controlling breathing Gradually working up from single-syllable responses to longer words and more complex sentences For adults, self-help groups can help you find resources and support as you face the challenges of stuttering. There are electronic devices to help with fluency, but more research is needed to see whether they really help over the long term. Some people have tried medicines that usually treat other health problems such as epilepsy, anxiety, or depression. But these medicines are not approved for stuttering, and they often have side effects. NIH: National Institute on Deafness and Other Communication Disorders

MalaCards based summary : Stuttering, also known as stammering, is related to speech and communication disorders and speech disorder, and has symptoms including seizures, nausea and vomiting and tremor. An important gene associated with Stuttering is AP4E1 (Adaptor Related Protein Complex 4 Subunit Epsilon 1), and among its related pathways/superpathways are Lysosome and Methylphenidate Pathway, Pharmacodynamics. The drugs Ramipril and Dopamine have been mentioned in the context of this disorder. Affiliated tissues include brain, cortex and tongue, and related phenotype is skeleton.

Disease Ontology : 12 An articulation disorder characterized by involuntary sound repetition and disruption or blocking of speech.

UniProtKB/Swiss-Prot : 73 Stuttering, familial persistent 1: A familial form of stuttering, a disturbance in the normal fluency and time patterning of speech, characterized by frequent repetitions or prolongations of sounds or syllables, and by interruptions of speech known as blocks. STUT1 inheritance is autosomal dominant.

Wikipedia : 74 Stuttering, also known as stammering and dysphemia, is a speech disorder in which the flow of speech is... more...

Related Diseases for Stuttering

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

(show top 50) (show all 255)
# Related Disease Score Top Affiliating Genes
1 speech and communication disorders 32.0 SLC6A3 NAGPA GNPTG FOXP2 CNTNAP2
2 speech disorder 31.8 SLC6A3 PVALB NAGPA GNPTG GNPTAB FOXP2
3 tic disorder 31.0 SLC6A3 PVALB DRD2 CNTNAP2
4 apraxia 30.8 SLC6A3 FOXP2 CNTNAP2
5 attention deficit-hyperactivity disorder 30.7 SLC6A3 FOXP2 DRD2 DBH CNTNAP2
6 dyslexia 30.5 SLC6A3 NAGPA GNPTG GNPTAB FOXP2 DRD2
7 mucolipidosis 30.5 NAGPA GNPTG GNPTAB
8 supranuclear palsy, progressive, 1 30.4 SLC6A3 PVALB DRD2
9 mucolipidoses 30.3 GNPTG GNPTAB
10 oppositional defiant disorder 30.2 SLC6A3 DRD2 DBH
11 mutism 30.2 SLC6A3 FOXP2 CNTNAP2
12 conduct disorder 30.2 SLC6A3 DRD2 DBH
13 multiple system atrophy 1 30.2 SLC6A3 DRD2 DBH
14 substance abuse 30.2 SLC6A3 DRD2 DBH
15 bipolar disorder 30.2 SLC6A3 PVALB DRD2 DBH CNTNAP2
16 psychotic disorder 30.1 SLC6A3 PVALB DRD2 DBH
17 specific language impairment 30.1 NAGPA GNPTG FOXP2 DCAF8 CNTNAP2
18 gilles de la tourette syndrome 30.0 SLC6A3 PVALB DRD2 DBH CNTNAP2
19 articulation disorder 29.9 SLC6A3 PVALB NAGPA GNPTG GNPTAB FOXP2
20 ap-4-associated hereditary spastic paraplegia 29.7 AP4M1 AP4E1
21 disease of mental health 29.4 SLC6A3 PVALB GNRH1 FOXP2 DRD2 DCAF8
22 stuttering, familial persistent, 4 11.5
23 stuttering, familial persistent, 3 11.5
24 snijders blok-campeau syndrome 11.0
25 cluttering 11.0
26 priapism 10.5
27 tarsal tunnel syndrome 10.5 GNPTG GNPTAB
28 tibial neuropathy 10.5 GNPTG GNPTAB
29 mucolipidosis iii alpha/beta 10.5 NAGPA GNPTG GNPTAB
30 mucolipidosis ii alpha/beta 10.5 NAGPA GNPTG GNPTAB
31 diffuse peritoneal leiomyomatosis 10.5 GNRH1 CYP19A1
32 drug psychosis 10.5 SLC6A3 DRD2
33 lingual-facial-buccal dyskinesia 10.5 SLC6A3 DRD2 CNTNAP2
34 mixed cerebral palsy 10.5 SLC6A3 GNRH1
35 hereditary spastic paraplegia 51 10.5 AP4M1 AP4E1
36 pathological gambling 10.5 SLC6A3 DRD2 DBH
37 drug-induced mental disorder 10.5 SLC6A3 DRD2
38 bestiality 10.5 SLC6A3 DRD2
39 bronchiectasis 3 10.4 GNRH1 CYP17A1
40 aphasia 10.4
41 endogenous depression 10.4 SLC6A3 GNRH1 DRD2
42 substance-induced psychosis 10.4 SLC6A3 DRD2
43 reading disorder 10.4 NAGPA FOXP2 CNTNAP2
44 cocaine abuse 10.4 SLC6A3 DRD2 DBH
45 mucopolysaccharidosis-plus syndrome 10.4 NAGPA GNPTG GNPTAB
46 mammographic density 10.4 CYP19A1 CYP17A1
47 cocaine dependence 10.4 SLC6A3 DRD2 DBH
48 penis agenesis 10.4 GNRH1 CYP17A1
49 spastic paraplegia 52, autosomal recessive 10.4 AP4M1 AP4E1
50 amphetamine abuse 10.4 SLC6A3 PVALB

Graphical network of the top 20 diseases related to Stuttering:



Diseases related to Stuttering

Symptoms & Phenotypes for Stuttering

UMLS symptoms related to Stuttering:


seizures, nausea and vomiting, tremor, constipation, fatigue, fever, back pain, abdominal pain, dyspnea, vertigo, cachexia, chest pain, headache, pruritus, syncope, scanning speech, cyanosis, diarrhea, edema, pain, chronic pain, sciatica, halitosis, dyspepsia, icterus, signs and symptoms, signs and symptoms, digestive, hot flushes, coughing, vertigo/dizziness, sleeplessness, symptoms, heartburn, gastrointestinal gas, pelvic pain, stuttering, acquired, stuttering, adult, stuttering, childhood, stuttering, developmental

MGI Mouse Phenotypes related to Stuttering:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 skeleton MP:0005390 9.32 AP4E1 AP4M1 CHD3 CYP17A1 CYP19A1 DBH

Drugs & Therapeutics for Stuttering

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

(show all 16)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ramipril Approved Phase 3 87333-19-5 5362129
2
Dopamine Approved Phase 3 51-61-6, 62-31-7 681
3
Asenapine Approved Phase 3 85650-56-2, 65576-45-6 3001386
4 Antihypertensive Agents Phase 3
5 Angiotensin-Converting Enzyme Inhibitors Phase 3
6 HIV Protease Inhibitors Phase 3
7
protease inhibitors Phase 3
8 Psychotropic Drugs Phase 3
9 Antipsychotic Agents Phase 3
10
Serotonin Investigational, Nutraceutical Phase 3 50-67-9 5202
11 Ecopipam Investigational Phase 2 112108-01-7
12 Dopamine Agents Phase 2
13 Dopamine Antagonists Phase 2
14 Neurotransmitter Agents Phase 2
15
Raclopride Investigational 84225-95-6
16 Tea

Interventional clinical trials:

(show all 33)
# Name Status NCT ID Phase Drugs
1 An Open-label Study to Evaluate the Efficacy and Tolerability of Ecopipam in Adults With Childhood Onset Fluency Disorder (Stuttering). Unknown status NCT02909088 Phase 2, Phase 3 Ecopipam 50mg;Ecopipam 100mg
2 A 3 Arm, Double-blind, Placebo-controlled Parallel Group Study to Assess the Efficacy,Safety and Tolerability of Pagoclone for Adults With Stuttering Completed NCT00830154 Phase 2, Phase 3 pagoclone
3 Explorative Study for Treating Persistent Developmental Stuttering With Ramipril Recruiting NCT04173949 Phase 3 Ramipril 2.5 MG
4 A Randomized, Placebo-Controlled Study to Evaluate the Efficacy and Tolerability of Asenapine With Flexible Dosing From 5mg to 20mg in Adults With Developmental Stuttering Suspended NCT01684657 Phase 3 Asenapine
5 Relapse Following the Lidcombe Program for Preschool Children Who Stutter Unknown status NCT00709072 Phase 2
6 The Effect of Spacing of Lidcombe Program Clinic Visits Unknown status NCT00680303 Phase 2
7 An 8-week, Double-Blind, Randomized, Multicenter, Flexible-Dose, Placebo-Controlled Pilot Study of Pagoclone in Patients With Persistent Developmental Stuttering Followed by a 52-week Open-Label Extension. Completed NCT00239915 Phase 2 Pagoclone
8 An 8-week, Double-blind, Randomized, Multicenter, Flexible-dose, Placebo Controlled Pilot Study of Pagoclone in Patients With PDS Followed by a 52-week Open-label Extension Completed NCT00216255 Phase 2 Pagoclone;Placebo
9 A Multicenter, Randomized, Double-Blind, Placebo-Controlled, Parallel-Group, Phase 2 Exploratory Study to Evaluate the Efficacy and Safety of Ecopipam Tablets in Adults With Childhood Onset Fluency Disorder (Stuttering) Recruiting NCT04492956 Phase 2 Ecopipam;Placebo
10 The Effects of Tactile Speech Feedback on Stuttering Frequency Withdrawn NCT01315730 Phase 1
11 Investigating Non-invasive Brain Stimulation to Enhance Fluency in People Who Stutter Unknown status NCT03335722
12 The Classroom Communication Resource (CCR) Intervention to Change Grade 7 Peer's Attitudes Towards Children Who Stutter (CWS) in the Western Cape: A Protocol for a Cluster-Randomised Controlled Trial Unknown status NCT03111524
13 Evoked and Induced Auditory Cortical Activity During Speech Perception and Speech Production in Stuttering Unknown status NCT00148161
14 A Pilot Randomised Controlled Trial of the Effectiveness of Intensive Group Speech and Language Therapy as a Treatment for Older Children Who Stammer Completed NCT00945113
15 Integration of Individualized Variables of School-age Children Who Stutter Into Intensive Stuttering Group Therapy and the Effect of Emotional Reactivity on Therapy Outcomes Completed NCT03778632
16 The Effect of "Inquiry Based Stress Reduction" (IBSR) on the Overall Stuttering Experience, Quality of Life and Psychological Indicators Among Adults Who Stutter a Randomized Controlled Clinical Trial Completed NCT04580966
17 Stuttering Severity and Anxiety in Egyptian School-age Children Completed NCT03160586
18 The Speech Prosody of People With Stuttering and Developmental Apraxia: the Efficacy of an Intervention Program Completed NCT01097161
19 Assessment of Pre- and Post-Synaptic Dopamine Function in Developmental Stuttering Using 11C-Raclopride and Positron Emission Tomography Completed NCT00024960
20 Genetic Studies of Stuttering Completed NCT00001604
21 Genetic Linkage Analysis in Developmental Stuttering: Gene Mapping in Extended Kindreds and Candidate Gene Analyses Completed NCT00001602
22 Enhancing Speech Fluency With Non-invasive Brain Stimulation in Developmental Stuttering Completed NCT02288598
23 Effectiveness of Digital Manipulation of Thyroid Cartilage and Fluency Shaping Therapy for the Management of Stuttering in Adult Completed NCT03628755
24 The Effect of the Combined Treatment Approach of Delayed Auditory Feedback and Transcranial Direct Current Stimulation to Enhancement of Speech Fluency in Adults Who Stutter Completed NCT03990168
25 Non-invasive Brain Stimulation in Adults Who Stutter Completed NCT03437512
26 Characteristics of Idiopathic Familial Speech Disorders Completed NCT00001551
27 Brain Activation During Developmental Speech Production and Speech Perception Completed NCT00004991
28 Effect of Providing Speech Therapy Awareness in Private Schools Completed NCT04505696
29 Modifying Unconscious Tongue Movements to Improve Fluency in Adults With a Confirmed Developmental Stammer. A Pilot Randomised Feasibility Study. Recruiting NCT04310436
30 The Effect of Spontaneous Hand Gestures on Stuttering in Children With Down Syndrome Recruiting NCT03698539
31 Assessment of Stuttering Severity in Adults and Adolescences in Conversational and Narrative Contexts Not yet recruiting NCT04082104
32 Correlation of Family History, Age at Onset and Severity of Stuttering in School-age Children Not yet recruiting NCT04412213
33 Multimodal Studies of Language Production and Comprehension in Normal Volunteers and Patients With Neurologically-Based Language Impairments Terminated NCT00001308

Search NIH Clinical Center for Stuttering

Cochrane evidence based reviews: stuttering

Genetic Tests for Stuttering

Anatomical Context for Stuttering

MalaCards organs/tissues related to Stuttering:

40
Brain, Cortex, Tongue, Heart, Eye, Spinal Cord, Thyroid

Publications for Stuttering

Articles related to Stuttering:

(show top 50) (show all 3890)
# Title Authors PMID Year
1
Association between Rare Variants in AP4E1, a Component of Intracellular Trafficking, and Persistent Stuttering. 61 6
26544806 2015
2
Linkage analysis of a large African family segregating stuttering suggests polygenic inheritance. 6 61
23239121 2013
3
Motor sequence learning in children with recovered and persistent developmental stuttering: preliminary findings. 61 42
33207289 2020
4
Associations between stuttering, comorbid conditions and executive function in children: a population-based study. 42 61
33129350 2020
5
Visual exogenous and endogenous attention and visual memory in preschool children who stutter. 42
33032169 2020
6
An articulatory study of differences and similarities between stuttered disfluencies and non-pathological disfluencies. 61
32338079 2021
7
Migraine and adult-onset stuttering: A proposed autoimmune phenomenon. 61
33529288 2021
8
Temperament and the Impact of Stuttering in Children Aged 8-14 Years. 61
33465312 2021
9
Rare Disorders of Painful Erection: A Cohort Study of the Investigation and Management of Stuttering Priapism and Sleep-Related Painful Erection. 61
33390335 2021
10
Does the clinical utility of self-disclosure of stuttering transcend culturally and linguistically diverse populations? 61
33544005 2021
11
Speech rate association with cerebellar white-matter diffusivity in adults with persistent developmental stuttering. 61
33538875 2021
12
The Speech Situation Checklist-Emotional Reaction: Normative and comparative study of Kannada-speaking children who do and do not stutter. 61
33586523 2021
13
White matter microstructural differences underlying beta oscillations during speech in adults who stutter. 61
33550120 2021
14
Variability of Stuttering: Behavior and Impact. 61
33197323 2021
15
Stigma and the Hispanic stuttering experience: A qualitative study. 61
33259946 2021
16
Societal knowledge of stuttering in Saudi population. 61
33424353 2021
17
A Case of Acute Stuttering Resulting after a Sports-related Concussion. 61
33395124 2021
18
A systematic review on the role of language-related factors in the manifestation of stuttering in bilinguals. 61
33556665 2021
19
Essential thrombocythemia with (type2) calreticulin presented as stuttering priapism case report and review of literature. 61
33489189 2021
20
Evolution in technology and changes in the perspective of stuttering therapy: A review study. 61
33424348 2021
21
Stuttering and incident type 2 diabetes: a population-based study of 2.2 million adolescents. 61
33449080 2021
22
Do dyslexia and stuttering share a processing deficit? 61
33444937 2021
23
The Case of a Patient with Pantothenate Kinase-Associated Neurodegeneration Presenting with a Prolonged History of Stuttering Speech and a Misdiagnosis of Parkinson's Disease. 61
32942839 2021
24
Speech and Anxiety Management With Persistent Stuttering: Current Status and Essential Research. 61
33400555 2021
25
Phonetic complexity and stuttering in Turkish-speaking children who stutter. 61
33393379 2021
26
Public attitudes toward people who stutter in the workplace: A questionnaire survey of Japanese employees. 61
33388698 2021
27
Public attitudes towards people who stutter in South Egypt. 61
33539373 2021
28
Speech restructuring group treatment for 6-to-9-year-old children who stutter: A therapeutic trial. 61
33444874 2021
29
A Questionnaire Survey About Support Requests From School-Age Children and Adolescents Who Stutter. 61
33497578 2021
30
Quality and readability of internet information about stuttering. 61
33316553 2020
31
Pregabalin-associated stuttering and frequent blepharospasm: case report and review. 61
32632575 2020
32
Drug induced stuttering: pharmacovigilance data. 61
33337944 2020
33
Evaluating three stuttering assessments through network analysis, random forests and cluster analysis. 61
33571755 2020
34
Stuttering therapy through telepractice in Turkey: A mixed method study. 61
33011586 2020
35
Swedish outcomes of the Overall Assessment of the Speaker's Experience of Stuttering in an international perspective. 61
31771383 2020
36
Larger reported impact of stuttering in teenage females, compared to males - A comparison of teenagers' result on Overall Assessment of the Speaker's Experience of Stuttering (OASES). 61
33348210 2020
37
Dissociated Development of Speech and Limb Sensorimotor Learning in Stuttering: Speech Auditory-motor Learning is Impaired in Both Children and Adults Who Stutter. 61
33091464 2020
38
Bilinguals who stutter: A cognitive perspective. 61
33296800 2020
39
Inhibitory Control of Lexical Selection in Adults who Stutter. 61
32950028 2020
40
Emotional and behavioural problems of children and adolescents who stutter: Comparison with typically developing peers. 61
33355015 2020
41
What works for whom? Multidimensional individualized stuttering therapy (MIST). 61
33080388 2020
42
Stuttering and Word-Finding Difficulties in a Patient With COVID-19 Presenting to the Emergency Department. 61
33409021 2020
43
Life partners' perceptions of the emotional, speech disruptive, and attitudinal correlates of stuttering. 61
33290956 2020
44
Effect of word phonetic properties on stuttering anticipation and speech production in adults who stutter. 61
33242720 2020
45
Clozapine-Associated Stuttering: A Case Report. 61
31219808 2020
46
Neuronavigated rTMS inhibition of right pars triangularis anterior in stuttering: Differential effects on reading and speaking. 61
32979643 2020
47
Cognitive Flexibility for Semantic and Perceptual Information in Developmental Stuttering. 61
33108236 2020
48
The Utility of Cinematherapy for Stuttering Intervention: An Exploratory Study. 61
32957157 2020
49
Bilingualism as a Purported Risk Factor for Stuttering: A Close Look at a Seminal Study (Travis et al., 1937). 61
32976049 2020
50
Progressive aphasia, apraxia of speech and agraphia in corticobasal degeneration: A 12-case series clinical and neuropsychological descriptive study. 61
32725870 2020

Variations for Stuttering

ClinVar genetic disease variations for Stuttering:

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 AP4E1 NM_007347.5(AP4E1):c.2401G>A (p.Glu801Lys) SNV Pathogenic 224506 rs556450190 15:51289577-51289577 15:50997380-50997380
2 AP4E1 NM_007347.5(AP4E1):c.2232_2233TA[3] (p.Thr746Ter) Microsatellite Likely pathogenic 548459 rs1555462184 15:51285707-51285708 15:50993510-50993511
3 AP4E1 NM_007347.5(AP4E1):c.613C>A (p.His205Asn) SNV Uncertain significance 128402 rs148499164 15:51221276-51221276 15:50929079-50929079
4 AP4E1 NM_007347.5(AP4E1):c.2149C>T (p.Pro717Ser) SNV Uncertain significance 458249 rs150743968 15:51285625-51285625 15:50993428-50993428
5 AP4E1 NM_007347.5(AP4E1):c.617T>C (p.Ile206Thr) SNV Uncertain significance 931303 15:51221280-51221280 15:50929083-50929083
6 AP4E1 NM_007347.5(AP4E1):c.2813A>G (p.Asp938Gly) SNV Uncertain significance 931304 15:51289989-51289989 15:50997792-50997792

Copy number variations for Stuttering from CNVD:

7
# CNVD ID Chromosome Start End Type Gene Symbol CNVD Disease
1 219954 7 132400000 147500000 Microdeletion CNTNAP2 Stuttering

Expression for Stuttering

Search GEO for disease gene expression data for Stuttering.

Pathways for Stuttering

Pathways related to Stuttering according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.13 NAGPA GNPTG GNPTAB AP4M1 AP4E1
2
Show member pathways
10.49 SLC6A3 DRD2 DBH

GO Terms for Stuttering

Cellular components related to Stuttering according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 Golgi apparatus GO:0005794 9.8 NAGPA GNPTG GNPTAB DRD2 CNTNAP2 AP4M1
2 axon GO:0030424 9.35 SLC6A3 PVALB DRD2 CYP17A1 CNTNAP2
3 endosome lumen GO:0031904 9.32 AP4M1 AP4E1
4 dopaminergic synapse GO:0098691 9.16 SLC6A3 DRD2
5 AP-4 adaptor complex GO:0030124 8.62 AP4M1 AP4E1

Biological processes related to Stuttering according to GeneCards Suite gene sharing:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 response to ethanol GO:0045471 9.69 SLC6A3 GNRH1 DRD2
2 locomotory behavior GO:0007626 9.58 SLC6A3 DRD2 DBH
3 protein localization GO:0008104 9.54 DRD2 AP4M1 AP4E1
4 protein targeting to lysosome GO:0006622 9.49 NAGPA AP4M1
5 response to iron ion GO:0010039 9.48 SLC6A3 DRD2
6 striatum development GO:0021756 9.46 DRD2 CNTNAP2
7 prepulse inhibition GO:0060134 9.43 SLC6A3 DRD2
8 dopamine catabolic process GO:0042420 9.32 SLC6A3 DBH
9 behavioral response to ethanol GO:0048149 9.26 DRD2 DBH
10 adenohypophysis development GO:0021984 9.16 SLC6A3 DRD2
11 hyaloid vascular plexus regression GO:1990384 8.96 SLC6A3 DRD2
12 secretion of lysosomal enzymes GO:0033299 8.62 NAGPA GNPTAB

Molecular functions related to Stuttering according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 monooxygenase activity GO:0004497 9.33 DBH CYP19A1 CYP17A1
2 dopamine binding GO:0035240 8.96 SLC6A3 DRD2
3 UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity GO:0003976 8.62 GNPTG GNPTAB

Sources for Stuttering

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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