MCID: ATS364
MIFTS: 72

Autism

Categories: Eye diseases, Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Autism

MalaCards integrated aliases for Autism:

Name: Autism 57 12 73 36 3 15 37 39 17
Autistic Disorder 57 12 44 15 70
Autistic Disorder of Childhood Onset 12 29 6
Autism Susceptibility 1 57 13
Childhood Autism 12 32
Kanner's Syndrome 12
Infantile Autism 12
Autistic 54

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
isolated cases
multifactorial

Miscellaneous:
genetic heterogeneity
onset by 3 years of age
male to female ratio 4:1
occurs in 2-5 per 10,000 individuals
associated with tuberous sclerosis
associated with untreated phenylketonuria
associated with fragile x syndrome


HPO:

31
autism:
Inheritance multifactorial inheritance heterogeneous sporadic
Onset and clinical course childhood onset


Classifications:



External Ids:

Disease Ontology 12 DOID:12849
OMIM® 57 209850
OMIM Phenotypic Series 57 PS209850
KEGG 36 H02111
ICD9CM 34 299.0
MeSH 44 D001321
NCIt 50 C97161
SNOMED-CT 67 38763009
ICD10 32 F84.0
MedGen 41 C0004352
UMLS 70 C0004352

Summaries for Autism

OMIM® : 57 Autism, the prototypic pervasive developmental disorder (PDD), is usually apparent by 3 years of age. It is characterized by a triad of limited or absent verbal communication, a lack of reciprocal social interaction or responsiveness, and restricted, stereotypic, and ritualized patterns of interests and behavior (Bailey et al., 1996; Risch et al., 1999). 'Autism spectrum disorder,' sometimes referred to as ASD, is a broader phenotype encompassing the less severe disorders Asperger syndrome (see ASPG1; 608638) and pervasive developmental disorder, not otherwise specified (PDD-NOS). 'Broad autism phenotype' includes individuals with some symptoms of autism, but who do not meet the full criteria for autism or other disorders. Mental retardation coexists in approximately two-thirds of individuals with ASD, except for Asperger syndrome, in which mental retardation is conspicuously absent (Jones et al., 2008). Genetic studies in autism often include family members with these less stringent diagnoses (Schellenberg et al., 2006). Levy et al. (2009) provided a general review of autism and autism spectrum disorder, including epidemiology, characteristics of the disorder, diagnosis, neurobiologic hypotheses for the etiology, genetics, and treatment options. (209850) (Updated 20-May-2021)

MalaCards based summary : Autism, also known as autistic disorder, is related to autism spectrum disorder and pervasive developmental disorder. An important gene associated with Autism is STXBP1 (Syntaxin Binding Protein 1), and among its related pathways/superpathways are Cell adhesion molecules and Glutamatergic synapse. The drugs Dopamine and Risperidone have been mentioned in the context of this disorder. Affiliated tissues include Umbilical Cord, brain and eye, and related phenotypes are eeg abnormality and increased serum serotonin

Disease Ontology : 12 An autism spectrum disorder that is characterized by symptoms across all three symptom domains (communication, social, restricted repetitive interests and behaviors), delayed language development, and symptom onset prior to age 3 years.

CDC : 3 Autism spectrum disorder (ASD) is a developmental disability that can cause significant social, communication and behavioral challenges. There is often nothing about how people with ASD look that sets them apart from other people, but people with ASD may communicate, interact, behave, and learn in ways that are different from most other people. The learning, thinking, and problem-solving abilities of people with ASD can range from gifted to severely challenged. Some people with ASD need a lot of help in their daily lives; others need less.

KEGG : 36 Autism, also known as autistic spectrum disorder (ASD), is a common childhood onset neurodevelopmental disorder, characterised by severe deficits in socialisation, communication, and repetitive or unusual behaviour. It is highly genetic and multifactorial, with many risk factors acting together. Several autism loci and genes have been identified. Large-effect rare mutations and small-effect common variants (Autism susceptibility, AUTS) contribute to risk.

Wikipedia : 73 Autism is a developmental disorder characterized by difficulties with social interaction and... more...

Related Diseases for Autism

Diseases in the Autism family:

Autism 8 Autism 3
Autism 6 Autism 7
Autism 11 Autism 12
Autism 13 Autism 9
Autism 10 Autism 15
Autism 16 Autism 17
Autism 18 Autism 19
Autism 20 Autism Spectrum Disorder
Rare Disease with Autism

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

(show top 50) (show all 1491)
# Related Disease Score Top Affiliating Genes
1 autism spectrum disorder 34.4 TCF20 STXBP1 SCN2A SCN1A PTEN MBD5
2 pervasive developmental disorder 33.3 SCN2A SCN1A PTEN CHD8 CDKL5
3 alacrima, achalasia, and mental retardation syndrome 32.4 TCF20 STXBP1 SCN2A SCN1A NSD1 MBD5
4 pitt-hopkins syndrome 32.4 STXBP1 MBD5 CHD8 CDKL5
5 sotos syndrome 1 32.3 NSD1 MBD5 CHD8
6 landau-kleffner syndrome 32.3 STXBP1 SCN2A SCN1A
7 cornelia de lange syndrome 32.0 STXBP1 MBD5 KMT2A CREBBP CHD8
8 developmental and epileptic encephalopathy 13 32.0 SCN2A SCN1A
9 stxbp1 encephalopathy 31.8 STXBP1 CDKL5
10 disease of mental health 31.8 TCF20 STXBP1 SCN2A SCN1A PTEN NSD1
11 overgrowth syndrome 31.8 NSD1 CHD8
12 west syndrome 31.5 STXBP1 SCN2A SCN1A PTEN CDKL5
13 encephalopathy 31.5 STXBP1 SCN2A SCN1A CDKL5
14 seizure disorder 31.3 STXBP1 SCN2A SCN1A PTEN NSD1 GSPT2
15 microcephaly 31.3 STXBP1 SCN1A PTEN NSD1 MBD5 KMT2A
16 focal epilepsy 31.1 SCN2A SCN1A PTEN CDKL5
17 early myoclonic encephalopathy 31.0 STXBP1 SCN2A SCN1A CDKL5
18 dravet syndrome 31.0 STXBP1 SCN2A SCN1A CDKL5
19 lennox-gastaut syndrome 30.9 STXBP1 SCN2A SCN1A CDKL5
20 early infantile epileptic encephalopathy 30.7 STXBP1 SCN2A SCN1A CDKL5
21 benign familial infantile epilepsy 30.7 STXBP1 SCN2A SCN1A CDKL5
22 epilepsy, myoclonic juvenile 30.6 STXBP1 SCN2A SCN1A CDKL5
23 generalized epilepsy with febrile seizures plus 30.6 STXBP1 SCN2A SCN1A CDKL5
24 epilepsy, idiopathic generalized 30.6 STXBP1 SCN2A SCN1A CDKL5
25 developmental and epileptic encephalopathy 9 30.6 STXBP1 SCN1A CDKL5
26 childhood absence epilepsy 30.5 STXBP1 SCN2A SCN1A CDKL5
27 benign epilepsy with centrotemporal spikes 30.5 STXBP1 SCN2A SCN1A CDKL5
28 developmental and epileptic encephalopathy 1 30.5 STXBP1 SCN1A CDKL5
29 kabuki syndrome 1 30.4 NSD1 KMT2A CREBBP CHD8
30 autosomal dominant non-syndromic intellectual disability 30.3 STXBP1 SCN2A NSD1 MBD5 KMT2A CREBBP
31 genetic epilepsy with febrile seizures plus 30.3 SCN2A SCN1A
32 autosomal dominant nocturnal frontal lobe epilepsy 30.2 STXBP1 SCN2A SCN1A RPE65
33 complex partial epilepsy 30.0 STXBP1 MBD5
34 developmental and epileptic encephalopathy 2 29.9 NSD1 CDKL5
35 autism 16 11.6
36 autism 15 11.6
37 autism 17 11.6
38 intellectual developmental disorder with autism and speech delay 11.6
39 autism x-linked 1 11.5
40 autism x-linked 3 11.5
41 autism x-linked 4 11.5
42 autism 18 11.5
43 autism x-linked 2 11.5
44 autism x-linked 5 11.5
45 macrocephaly/autism syndrome 11.5
46 autism x-linked 6 11.5
47 atypical autism 11.5
48 autism 3 11.5
49 autism 6 11.5
50 autism 7 11.4

Graphical network of the top 20 diseases related to Autism:



Diseases related to Autism

Symptoms & Phenotypes for Autism

Human phenotypes related to Autism:

31 (show all 12)
# Description HPO Frequency HPO Source Accession
1 eeg abnormality 31 frequent (33%) HP:0002353
2 increased serum serotonin 31 frequent (33%) HP:0003144
3 seizure 31 frequent (33%) HP:0001250
4 intellectual disability 31 HP:0001249
5 delayed speech and language development 31 HP:0000750
6 stereotypy 31 HP:0000733
7 autism 31 HP:0000717
8 impaired use of nonverbal behaviors 31 HP:0000758
9 restrictive behavior 31 HP:0000723
10 lack of spontaneous play 31 HP:0000721
11 impaired ability to form peer relationships 31 HP:0000728
12 inflexible adherence to routines or rituals 31 HP:0000732

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Behavioral Psychiatric Manifestations:
impaired social interactions
lack of spontaneous play
impaired ability to form peer relationships
inflexible adherence to routines or rituals
impaired use of nonverbal behaviors, such as eye-to-eye gaze, facial expression, body posture, and gestures
more
Laboratory Abnormalities:
increased serum serotonin in 25%

Neurologic Central Nervous System:
mental retardation in 75%
seizures in 15-30%
eeg abnormalities in 20-50%

Clinical features from OMIM®:

209850 (Updated 20-May-2021)

GenomeRNAi Phenotypes related to Autism according to GeneCards Suite gene sharing:

26 (show all 36)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-11 9.97 CHRNA1
2 Increased shRNA abundance (Z-score > 2) GR00366-A-111 9.97 KMT2A
3 Increased shRNA abundance (Z-score > 2) GR00366-A-112 9.97 AP2M1 BPTF
4 Increased shRNA abundance (Z-score > 2) GR00366-A-12 9.97 BPTF
5 Increased shRNA abundance (Z-score > 2) GR00366-A-130 9.97 KMT2A
6 Increased shRNA abundance (Z-score > 2) GR00366-A-138 9.97 AP2M1
7 Increased shRNA abundance (Z-score > 2) GR00366-A-139 9.97 AP2M1 BPTF
8 Increased shRNA abundance (Z-score > 2) GR00366-A-151 9.97 PTEN
9 Increased shRNA abundance (Z-score > 2) GR00366-A-155 9.97 CHRNA1
10 Increased shRNA abundance (Z-score > 2) GR00366-A-16 9.97 PTEN
11 Increased shRNA abundance (Z-score > 2) GR00366-A-168 9.97 AP2M1 BPTF CHRNA1 KMT2A PTEN
12 Increased shRNA abundance (Z-score > 2) GR00366-A-180 9.97 BPTF
13 Increased shRNA abundance (Z-score > 2) GR00366-A-184 9.97 AP2M1
14 Increased shRNA abundance (Z-score > 2) GR00366-A-185 9.97 BPTF
15 Increased shRNA abundance (Z-score > 2) GR00366-A-190 9.97 BPTF
16 Increased shRNA abundance (Z-score > 2) GR00366-A-202 9.97 BPTF
17 Increased shRNA abundance (Z-score > 2) GR00366-A-205 9.97 AP2M1
18 Increased shRNA abundance (Z-score > 2) GR00366-A-207 9.97 AP2M1
19 Increased shRNA abundance (Z-score > 2) GR00366-A-212 9.97 BPTF
20 Increased shRNA abundance (Z-score > 2) GR00366-A-214 9.97 PTEN
21 Increased shRNA abundance (Z-score > 2) GR00366-A-32 9.97 CHRNA1
22 Increased shRNA abundance (Z-score > 2) GR00366-A-36 9.97 BPTF
23 Increased shRNA abundance (Z-score > 2) GR00366-A-4 9.97 BPTF
24 Increased shRNA abundance (Z-score > 2) GR00366-A-42 9.97 CHRNA1 PTEN
25 Increased shRNA abundance (Z-score > 2) GR00366-A-46 9.97 CHRNA1
26 Increased shRNA abundance (Z-score > 2) GR00366-A-52 9.97 BPTF
27 Increased shRNA abundance (Z-score > 2) GR00366-A-57 9.97 CHRNA1
28 Increased shRNA abundance (Z-score > 2) GR00366-A-63 9.97 CHRNA1 PTEN
29 Increased shRNA abundance (Z-score > 2) GR00366-A-66 9.97 PTEN
30 Increased shRNA abundance (Z-score > 2) GR00366-A-73 9.97 CHRNA1
31 Increased shRNA abundance (Z-score > 2) GR00366-A-77 9.97 KMT2A
32 Increased shRNA abundance (Z-score > 2) GR00366-A-81 9.97 AP2M1
33 Increased shRNA abundance (Z-score > 2) GR00366-A-87 9.97 PTEN
34 Increased shRNA abundance (Z-score > 2) GR00366-A-88 9.97 KMT2A
35 Increased shRNA abundance (Z-score > 2) GR00366-A-91 9.97 KMT2A
36 Increased shRNA abundance (Z-score > 2) GR00366-A-93 9.97 PTEN

MGI Mouse Phenotypes related to Autism:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.07 CDKL5 CHD8 CHRNA1 CREBBP DPYD GSPT2
2 mortality/aging MP:0010768 9.97 AP2M1 BPTF CHD8 CHRNA1 CREBBP KMT2A
3 nervous system MP:0003631 9.73 CDKL5 CHD8 CHRNA1 CREBBP KMT2A MBD5
4 skeleton MP:0005390 9.28 BPTF CHRNA1 CREBBP GSPT2 KMT2A MBD5

Drugs & Therapeutics for Autism

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

(show top 50) (show all 391)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dopamine Approved Phase 4 51-61-6, 62-31-7 681
2
Risperidone Approved, Investigational Phase 4 106266-06-2 5073
3
Aripiprazole Approved, Investigational Phase 4 129722-12-9 60795
4
Acetylcysteine Approved, Investigational Phase 4 616-91-1 12035
5
Buspirone Approved, Investigational Phase 4 36505-84-7 2477
6
Olanzapine Approved, Investigational Phase 4 132539-06-1 4585 135398745
7
Milnacipran Approved, Investigational Phase 4 92623-85-3 65833
8
Levomilnacipran Approved, Investigational Phase 4 96847-54-0
9
Methylphenidate Approved, Investigational Phase 4 113-45-1 4158
10
Metformin Approved Phase 4 657-24-9 14219 4091
11
Guanfacine Approved, Investigational Phase 4 29110-47-2 3519
12
Inositol Approved, Investigational, Withdrawn Phase 4 87-89-8
13
Dexmedetomidine Approved, Vet_approved Phase 4 113775-47-6 68602 5311068
14
Choline Approved, Nutraceutical Phase 4 62-49-7 305
15
Cysteine Approved, Nutraceutical Phase 4 52-90-4 5862
16 Immunoglobulins Phase 4
17 Immunologic Factors Phase 4
18 Rho(D) Immune Globulin Phase 4
19 Immunoglobulins, Intravenous Phase 4
20 gamma-Globulins Phase 4
21 Antibodies Phase 4
22 Hypolipidemic Agents Phase 4
23 Lipid Regulating Agents Phase 4
24 Psychotropic Drugs Phase 4
25 Dopamine Antagonists Phase 4
26 Neurotransmitter Agents Phase 4
27 Antipsychotic Agents Phase 4
28 Gastrointestinal Agents Phase 4
29 Antiemetics Phase 4
30 Adrenergic Agents Phase 4
31 Anti-Infective Agents Phase 4
32 Antihypertensive Agents Phase 4
33 Antiviral Agents Phase 4
34 Serotonin Uptake Inhibitors Phase 4
35 Antidepressive Agents Phase 4
36 Dopamine agonists Phase 4
37 Serotonin 5-HT1 Receptor Agonists Phase 4
38 Serotonin Receptor Agonists Phase 4
39 Antidotes Phase 4
40 Expectorants Phase 4
41 N-monoacetylcystine Phase 4
42 Adrenergic alpha-Agonists Phase 4
43 Adrenergic Agonists Phase 4
44 Antibiotics, Antitubercular Phase 4
45 Atomoxetine Hydrochloride Phase 4
46 Serotonin and Noradrenaline Reuptake Inhibitors Phase 4
47 Hypoglycemic Agents Phase 4
48 insulin Phase 4
49 Insulin, Globin Zinc Phase 4
50 Dopamine Agents Phase 4

Interventional clinical trials:

(show top 50) (show all 1137)
# Name Status NCT ID Phase Drugs
1 Treatment With Acetyl-Choline Esterase Inhibitors in Children With Autism Unknown status NCT01098383 Phase 4 Acetyl-Choline Esterase Inhibitors and Choline supplements;Indistinguishable placebo tablets, matching both donepezil and choline
2 A Phase IV, Single-site, Open-Label Study to Evaluate the Efficacy of High-Dose Gammaplex in Children on the Autism Spectrum Unknown status NCT02199925 Phase 4 Gammaplex 5%
3 A Multinational, Multicenter, Open-label, Single-arm Study to Evaluate the Efficacy and Safety of Aripiprazole in Asian Pediatric Patients With Autism Spectrum Disorder and Behavior Problems Unknown status NCT02069977 Phase 4 Aripiprazole
4 Pilot Study of the Effect of Aripiprazole Treatment in Autism Spectrum Disorders on Functional Magnetic Resonance Imaging (fMRI) Activation Patterns and Symptoms Completed NCT01028820 Phase 4 Aripiprazole
5 Multisite Study: Acquisition of Social Skills in Children With Autism Using Video Modeling in Parental Training Completed NCT02235467 Phase 4
6 Divalproex Sodium ER in Adult Autism Completed NCT00211796 Phase 4 Divalproex Sodium ER
7 Biomarkers in Autism of Aripiprazole and Risperidone Treatment Completed NCT01333072 Phase 4 Aripiprazole;Risperidone
8 A Randomized, Double-blind Comparison of Atomoxetine Hydrochloride and Placebo for Symptoms of Attention-Deficit/Hyperactivity Disorder in Children and Adolescents With Autism Spectrum Disorder Completed NCT00380692 Phase 4 Atomoxetine;Placebo
9 Milnacipran in Autism and the Functional Locus Coeruleus and Noradrenergic Model of Autism Completed NCT01337700 Phase 4 Milnacipran;Placebo
10 Atomoxetine, Placebo and Parent Management Training in Autism Completed NCT00844753 Phase 4 atomoxetine;Placebo
11 The Role of Omega-3 Fatty Acids in the Management of Singaporean Children With Autism Spectrum Disorders Completed NCT01695200 Phase 4
12 Improving Driving in Young People With Autism Spectrum Disorders Completed NCT03538431 Phase 4 Buspirone
13 A Study of Memantine Hydrochloride (Namenda®) for Cognitive and Behavioral Impairment in Adults With Autism Spectrum Disorders Completed NCT01333865 Phase 4 Memantine
14 Quillivant XR in Children With Attention Deficit/Hyperactivity Disorder (ADHD) and Autism Spectrum Disorder (ASD): A Pilot Study Completed NCT02255565 Phase 4 Very Low Dose Quillivant XR;Low Dose Quillivant XR;Moderate Dose Quillivant XR
15 Open-Label Treatment Trial to Assess the Short-Term Tolerability, Safety, and Efficacy of Methylphenidate Hydrochloride Extended-Release Liquid Formulation in High-Functioning Autism Spectrum Disorder Adults With Attention-Deficit/Hyperactivity Disorder Completed NCT02096952 Phase 4 Methylphenidate extended-release liquid formulation
16 Treatment of Childhood Regressive Autism With Minocycline: an Anti-Inflammatory Agent Active Within the CNS Completed NCT00409747 Phase 4 Minocycline
17 Oxytocin-based Pharmacotherapy for Autism Spectrum Disorders: Investigating the Neural and Behavioral Effects of a Promising Intervention Approach Completed NCT02940574 Phase 4 Syntocinon (Oxytocin)
18 Risperidone in the Treatment of Children and Adolescents With Autistic Disorder: A Double-Blind, Placebo-Controlled Study of Efficacy and Safety, Followed by an Open-Label Extension Study of Safety Completed NCT00576732 Phase 4 Placebo;Risperidone high dose;Risperidone low dose
19 Safety and Efficacy of Aripiprazole in the Long-term Maintenance Treatment of Pediatric Patients With Irritability Associated With Autistic Disorder Completed NCT01227668 Phase 4 Aripiprazole;Placebo
20 Evaluation of Growth, Sexual Maturation, and Prolactin-Related Adverse Events in the Pediatric Population Exposed to Atypical Antipsychotic Drugs Completed NCT01050582 Phase 4 Risperidone;Other atypical antipsychotic drugs
21 An Open Label Pilot Study of Atomoxetine for Attention Deficit and Hyperactive/Impulsive Behavior Problems in Children and Adolescents With Autistic Spectrum Disorders Completed NCT00485849 Phase 4 Atomoxetine Hydrochloride
22 The Effect of N-Acetyl Cysteine on Cortical Erosion in Early Stage Schizophrenia Completed NCT01339858 Phase 4 N-Acetyl Cysteine
23 Guanfacine for the Treatment of Hyperactivity in Pervasive Developmental Disorder Completed NCT01238575 Phase 4 extended-release guanfacine
24 A Prospective Open-label Trial of Metformin for Weight Control of Pediatric Patients on Atypical Antipsychotic Medications. Completed NCT00391261 Phase 4 Metformin
25 Metabolic Effects of Antipsychotics in Children Completed NCT00205699 Phase 4 risperidone;olanzapine;aripiprazole
26 An Open-Label Clinical Trial Conducted Via Telepsychiatry of Complementary and Alternative Treatments (Omega-3 Fatty Acids and Inositol vs. N-acetylcysteine) for the Management of Emotional Dysregulation in Youth With Non-verbal Learning Disability (NVLD) and/or Autism Spectrum Disorders (ASD) Recruiting NCT03757585 Phase 4 Open-label Treatment with Omega-3 Fatty Acids + Inositol;Open-label Treatment with N-acetylcysteine
27 A Multi-Center, Open Label, Evaluation of the Effect and Safety of Lisdexamfetamine in Children Aged 6-12 With Attention Deficit Hyperactivity Disorder and Autism Spectrum Disorder Recruiting NCT03337646 Phase 4 Lisdexamfetamine Dimesylate
28 Connecting the Dots: An RCT Integrating Standardized ASD Screening, High-Quality Treatment, and Long-Term Outcomes Enrolling by invitation NCT03333629 Phase 4
29 Intranasal Dexmedetomidine vs Oral Triclofos Sodium Sedation for Children With Autism Undergoing Electroencephalograms - A Randomized Controlled Trial. Not yet recruiting NCT04270708 Phase 4 Dexmedetomidine;Triclofos 100 MG/ML
30 Controlled-Release Melatonin (Melatonin CR)for the Treatment of Impaired Sleep Maintenance (ISM) in 4-8 Year Old Children With Autism Spectrum Disorders (ASD). Terminated NCT01033565 Phase 4 Natrol
31 Valproate Response in Aggressive Autistic Adolescents Unknown status NCT00065884 Phase 3 Valproate
32 Efficacy of RAD001/Everolimus in Autism and NeuroPsychological Deficits in Children With Tuberous Sclerosis Complex Unknown status NCT01730209 Phase 2, Phase 3 Everolimus;Placebo
33 Group Psychoeducational Program for Mothers of Preschool Children With High Functional Pervasive Developmental Disorders: a Randomized Controlled Trial Unknown status NCT01243905 Phase 2, Phase 3
34 Kuvan® (Sapropterin) as a Treatment for Autistic Disorder: An Open Label Extension Protocol Completed NCT00943579 Phase 2, Phase 3 Kuvan®
35 Efficacy And Safety Of Risperidone In The Treatment Of Children With Autistic Disorder And Other Pervasive Developmental Disorders: A Canadian, Multicenter, Double-Blind, Placebo-Controlled Study Completed NCT00261508 Phase 3 risperidone
36 A Double-Blind Placebo-Controlled Randomized Clinical Trial of Fluvoxamine and Sertraline in Childhood Autism - Does SSRI Therapy Improve Behaviour and/or Mood? Completed NCT00655174 Phase 3 fluvoxamine;sertraline;Placebo
37 Phase 2 Study of the Parent-delivered Massage Treatment Protocol for Children With Autism Completed NCT01801696 Phase 2, Phase 3
38 Galantamine Versus Placebo in Childhood Autism Completed NCT00252603 Phase 3 Galantamine
39 Study Of Fluoxetine In Autism: A Randomised, Double-Blind, Placebo-Controlled, Parallel-Group 14-Week Study To Investigate The Effect Of Fluoxetine Orally Dissolving Tablet (ODT) On Repetitive Behaviors In Childhood And Adolescent Autistic Disorder. Completed NCT00515320 Phase 3 Fluoxetine;Placebo
40 A 6-Week, Randomized, Parallel, Double-Blind, Placebo-Controlled, Fixed-Dose, Multicenter Study to Evaluate the Efficacy and Safety of Lurasidone in Children and Adolescent Subjects With Irritability Associated With Autistic Disorder Completed NCT01911442 Phase 3 Lurasidone 20 mg daily;Lurasidone;Placebo
41 Randomized Controlled Trial of Acupuncture Versus Sham Acupuncture in Autistic Spectrum Disorder Completed NCT00352248 Phase 3
42 Use of Acupuncture In Autistic Spectrum Disorder Completed NCT00346736 Phase 3
43 Double Blind Placebo Controlled Trial of Methyl B12 on Behavioral and Metabolic Measures in Children With Autism Completed NCT01039792 Phase 2, Phase 3 Methyl B12
44 A Randomized Controlled Trial of D-Cycloserine in Autism Completed NCT00198120 Phase 3 D-cycloserine;Placebo
45 Placebo-Controlled Study of Risperidone for the Treatment of Children and Adolescents With Autism and Negative Behavioral Symptoms Completed NCT00005014 Phase 3 Risperidone
46 Double-Blind Placebo Controlled, Cross-over Trial of Subcutaneous B12 on Behavioral and Metabolic Measures in Children With Autism. Completed NCT00273650 Phase 2, Phase 3 methylcobalamin
47 Novel Pharmacological Strategies in Autism Completed NCT00198107 Phase 3 Aripiprazole;Placebo;D-cycloserine
48 A Randomized, Placebo-Controlled Trial of D-Cycloserine for the Enhancement of Social Skills Training in Pervasive Developmental Disorders Completed NCT01086475 Phase 3 D-cycloserine;Placebo
49 Targeted Pharmacologic Interventions for Autism: A Double-Blind, Placebo-Controlled Trial of Atomoxetine in Children and Adolescents With Autism Completed NCT00498173 Phase 3 Atomoxetine;Placebo
50 Randomized Control Trial of Using Tongue Acupuncture in Autistic Spectrum Disorder Using PET Scan for Clinical Correlation Completed NCT00355329 Phase 3

Search NIH Clinical Center for Autism

Inferred drug relations via UMLS 70 / NDF-RT 51 :


Fenfluramine
Fenfluramine Hydrochloride
quetiapine
Quetiapine fumarate
Risperidone
venlafaxine
Venlafaxine hydrochloride

Cell-based therapeutics:


LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database
Read about Autism cell therapies at LifeMap Discovery.

Cochrane evidence based reviews: autistic disorder

Genetic Tests for Autism

Genetic tests related to Autism:

# Genetic test Affiliating Genes
1 Autistic Disorder of Childhood Onset 29 SNRPN

Anatomical Context for Autism

MalaCards organs/tissues related to Autism:

40
Brain, Eye, Cortex, Amygdala, Bone, Cerebellum, Heart
LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database

Cells/anatomical compartments in embryo or adult related to Autism:
# Tissue Anatomical CompartmentCell Relevance
1 Umbilical Cord Wharton's Jelly Mesenchymal Stem Cells Potential therapeutic candidate

Publications for Autism

Articles related to Autism:

(show top 50) (show all 30837)
# Title Authors PMID Year
1
Identification of significant association and gene-gene interaction of GABA receptor subunit genes in autism. 61 6 57
16080114 2005
2
Single-cell genomics identifies cell type-specific molecular changes in autism. 57 61
31097668 2019
3
Comparative Analyses of Copy-Number Variation in Autism Spectrum Disorder and Schizophrenia Reveal Etiological Overlap and Biological Insights. 61 6
30208311 2018
4
Paternally inherited cis-regulatory structural variants are associated with autism. 57 61
29674594 2018
5
Infant viewing of social scenes is under genetic control and is atypical in autism. 57 61
28700580 2017
6
Genome-wide changes in lncRNA, splicing, and regional gene expression patterns in autism. 57 61
27919067 2016
7
The maternal interleukin-17a pathway in mice promotes autism-like phenotypes in offspring. 61 57
26822608 2016
8
Synaptic, transcriptional and chromatin genes disrupted in autism. 61 57
25363760 2014
9
The contribution of de novo coding mutations to autism spectrum disorder. 57 61
25363768 2014
10
Convergence of genes and cellular pathways dysregulated in autism spectrum disorders. 61 57
24768552 2014
11
The familial risk of autism. 61 57
24794370 2014
12
De novo SCN2A splice site mutation in a boy with Autism spectrum disorder. 61 57
24650168 2014
13
Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder. 57 61
24094742 2013
14
Transmission disequilibrium of small CNVs in simplex autism. 57 61
24035194 2013
15
Topoisomerases facilitate transcription of long genes linked to autism. 61 57
23995680 2013
16
Detection of clinically relevant genetic variants in autism spectrum disorder by whole-genome sequencing. 57 61
23849776 2013
17
Intellectual disability is associated with increased runs of homozygosity in simplex autism. 61 57
23830515 2013
18
Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder. 57 61
23375656 2013
19
Rare complete knockouts in humans: population distribution and significant role in autism spectrum disorders. 57 61
23352160 2013
20
Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders. 61 57
23160955 2012
21
Genome-wide transcriptome profiling reveals the functional impact of rare de novo and recurrent CNVs in autism spectrum disorders. 57 61
22726847 2012
22
Scan-statistic approach identifies clusters of rare disease variants in LRP2, a gene linked and associated with autism spectrum disorders, in three datasets. 57 61
22578327 2012
23
Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations. 61 57
22495309 2012
24
Patterns and rates of exonic de novo mutations in autism spectrum disorders. 57 61
22495311 2012
25
De novo mutations revealed by whole-exome sequencing are strongly associated with autism. 61 57
22495306 2012
26
Rare deletions at the neurexin 3 locus in autism spectrum disorder. 57 61
22209245 2012
27
Truncating mutations in NRXN2 and NRXN1 in autism spectrum disorders and schizophrenia. 61 57
21424692 2011
28
Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations. 57 61
21572417 2011
29
Rare de novo variants associated with autism implicate a large functional network of genes involved in formation and function of synapses. 57 61
21658583 2011
30
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism. 57 61
21658581 2011
31
Mitochondrial dysfunction in autism. 57 61
21119085 2010
32
Deletion 17q12 is a recurrent copy number variant that confers high risk of autism and schizophrenia. 57 61
21055719 2010
33
Autism in three patients with cystic or hyperechogenic kidneys and chromosome 17q12 deletion. 61 57
20587423 2010
34
Direct measure of the de novo mutation rate in autism and schizophrenia cohorts. 57 61
20797689 2010
35
Functional impact of global rare copy number variation in autism spectrum disorders. 61 57
20531469 2010
36
SCAMP5, NBEA and AMISYN: three candidate genes for autism involved in secretion of large dense-core vesicles. 61 57
20071347 2010
37
Autism. 57 61
19819542 2009
38
A genome-wide linkage and association scan reveals novel loci for autism. 61 57
19812673 2009
39
Linkage and linkage disequilibrium scan for autism loci in an extended pedigree from Finland. 61 57
19454485 2009
40
Autism-specific copy number variants further implicate the phosphatidylinositol signaling pathway and the glutamatergic synapse in the etiology of the disorder. 57 61
19246517 2009
41
Autism genome-wide copy number variation reveals ubiquitin and neuronal genes. 57 61
19404257 2009
42
A genome-wide association study of autism reveals a common novel risk locus at 5p14.1. 57 61
19456320 2009
43
Common genetic variants on 5p14.1 associate with autism spectrum disorders. 61 57
19404256 2009
44
Disruption of contactin 4 in three subjects with autism spectrum disorder. 57 61
18349135 2009
45
The DLX1and DLX2 genes and susceptibility to autism spectrum disorders. 57 61
18728693 2009
46
Hypothesis: dysregulation of methylation of brain-expressed genes on the X chromosome and autism spectrum disorders. 57 61
18698615 2008
47
Development and validation of a measure of dysmorphology: useful for autism subgroup classification. 61 57
18383511 2008
48
Structural variation of chromosomes in autism spectrum disorder. 57 61
18252227 2008
49
Contribution of SHANK3 mutations to autism spectrum disorder. 61 57
17999366 2007
50
A neuroligin-3 mutation implicated in autism increases inhibitory synaptic transmission in mice. 57 61
17823315 2007

Variations for Autism

ClinVar genetic disease variations for Autism:

6 (show top 50) (show all 226)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SCN2A NM_001040142.2(SCN2A):c.2229_2230del (p.Lys743fs) Deletion Pathogenic 374268 rs1057518658 GRCh37: 2:166187919-166187920
GRCh38: 2:165331409-165331410
2 overlap with 16 genes Duplication Pathogenic 545193 GRCh37:
GRCh38: 16:15375457-16198187
3 CHD8 NM_001170629.2(CHD8):c.727C>T (p.Arg243Ter) SNV Pathogenic 975208 GRCh37: 14:21899076-21899076
GRCh38: 14:21430917-21430917
4 STXBP1 NM_001032221.6(STXBP1):c.1359+1G>T SNV Pathogenic 812770 rs796053370 GRCh37: 9:130439033-130439033
GRCh38: 9:127676754-127676754
5 BPTF NM_182641.4(BPTF):c.5337_5338del (p.Val1780fs) Deletion Pathogenic 598947 rs1568070621 GRCh37: 17:65914862-65914863
GRCh38: 17:67918746-67918747
6 overlap with 84 genes Duplication Pathogenic 545217 GRCh37:
GRCh38: 17:16770855-20422847
7 overlap with 10 genes NC_000015.10:g.(?_22444190)_(23226874_?)del Deletion Pathogenic 545164 GRCh37:
GRCh38: 15:22444190-23226874
8 overlap with 9 genes NC_000015.10:g.(?_22570470)_(23226874_?)del Deletion Pathogenic 545165 GRCh37:
GRCh38: 15:22570470-23226874
9 overlap with 9 genes NC_000015.10:g.(?_22673143)_(23226874_?)del Deletion Pathogenic 545166 GRCh37:
GRCh38: 15:22673143-23226874
10 overlap with 7 genes NC_000015.10:g.(?_22751662)_(23126124_?)del Deletion Pathogenic 545169 GRCh37:
GRCh38: 15:22751662-23126124
11 overlap with 7 genes NC_000015.10:g.(?_22770232)_(23126124_?)del Deletion Pathogenic 545170 GRCh37:
GRCh38: 15:22770232-23126124
12 overlap with 19 genes NC_000015.10:g.(?_30568981)_(32151126_?)del Deletion Pathogenic 545179 GRCh37:
GRCh38: 15:30568981-32151126
13 overlap with 19 genes NC_000015.10:g.(?_30568981)_(32318632_?)del Deletion Pathogenic 545181 GRCh37:
GRCh38: 15:30568981-32318632
14 overlap with 43 genes NC_000016.10:g.(?_14757009)_(16763184_?)del Deletion Pathogenic 545185 GRCh37:
GRCh38: 16:14757009-16763184
15 overlap with 88 genes NC_000017.11:g.(?_16770855)_(20585863_?)del Deletion Pathogenic 545218 GRCh37:
GRCh38: 17:16770855-20585863
16 overlap with 22 genes NC_000017.11:g.(?_36446252)_(37887875_?)del Deletion Pathogenic 545222 GRCh37:
GRCh38: 17:36446252-37887875
17 overlap with 4 genes NC_000002.12:g.(?_50496341)_(51317388_?)del Deletion Pathogenic 545278 GRCh37:
GRCh38: 2:50496341-51317388
18 overlap with 2 genes NC_000002.12:g.(?_51001206)_(51200739_?)del Deletion Pathogenic 545282 GRCh37:
GRCh38: 2:51001206-51200739
19 MBD5 NC_000002.12:g.(?_148157591)_(148226058_?)del Deletion Pathogenic 545248 GRCh37:
GRCh38: 2:148157591-148226058
20 RPE65 NM_000329.3(RPE65):c.1084C>T (p.Gln362Ter) SNV Pathogenic 812758 rs1571164333 GRCh37: 1:68903914-68903914
GRCh38: 1:68438231-68438231
21 TCF20 NM_005650.3(TCF20):c.2594C>G (p.Ser865Ter) SNV Pathogenic 590778 rs1569149539 GRCh37: 22:42608718-42608718
GRCh38: 22:42212712-42212712
22 TCF20 NM_005650.3(TCF20):c.1810_1811del (p.Val604fs) Deletion Pathogenic 590779 rs1569151204 GRCh37: 22:42609501-42609502
GRCh38: 22:42213495-42213496
23 GSPT2 NM_018094.5(GSPT2):c.1021G>A (p.Val341Ile) SNV Pathogenic 375379 rs1057519440 GRCh37: X:51487743-51487743
GRCh38: X:51744647-51744647
24 overlap with 17 genes GRCh37/hg19 8p23.3-23.1(chr8:194617-6816918) copy number loss Pathogenic 523290 GRCh37: 8:194617-6816918
GRCh38:
25 overlap with 4 genes GRCh37/hg19 Xp22.31(chrX:6488721-8097511) copy number loss Pathogenic 523298 GRCh37: X:6488721-8097511
GRCh38:
26 PRR12 NM_020719.3(PRR12):c.1918G>T (p.Glu640Ter) SNV Pathogenic 446254 rs1555740650 GRCh37: 19:50099510-50099510
GRCh38: 19:49596253-49596253
27 PRR12 NM_020719.3(PRR12):c.4502_4505del (p.Leu1501fs) Deletion Pathogenic 446255 rs1555741826 GRCh37: 19:50104903-50104906
GRCh38: 19:49601646-49601649
28 PRR12 NM_020719.3(PRR12):c.903_909dup (p.Pro304fs) Duplication Pathogenic 446256 rs1555740394 GRCh37: 19:50098491-50098492
GRCh38: 19:49595234-49595235
29 overlap with 2 genes GRCh37/hg19 9p24.3(chr9:204193-340142) copy number gain Pathogenic 997066 GRCh37: 9:204193-340142
GRCh38:
30 overlap with 27 genes GRCh37/hg19 16p11.2(chr16:29673954-30198600) copy number gain Pathogenic 997089 GRCh37: 16:29673954-30198600
GRCh38:
31 overlap with 31 genes NC_000017.11:g.(?_36143765)_(37995300_?)del Deletion Pathogenic 545219 GRCh37:
GRCh38: 17:36143765-37995300
32 overlap with 54 genes Duplication Pathogenic 545264 GRCh37:
GRCh38: 22:18904453-20324329
33 overlap with 77 genes Duplication Pathogenic 545265 GRCh37:
GRCh38: 22:18904453-21277123
34 overlap with 68 genes Duplication Pathogenic 545266 GRCh37:
GRCh38: 22:19295635-21510330
35 overlap with 4 genes GRCh37/hg19 15q11.2(chr15:22765628-23085096) copy number loss Pathogenic 997051 GRCh37: 15:22765628-23085096
GRCh38:
36 overlap with 175 genes Duplication Pathogenic 545163 GRCh37:
GRCh38: 15:22420897-32130343
37 overlap with 130 genes Duplication Pathogenic 545173 GRCh37:
GRCh38: 15:23319712-28800324
38 overlap with 79 genes GRCh37/hg19 8p23.1-21.2(chr8:12580104-25947329) copy number gain Pathogenic 523288 GRCh37: 8:12580104-25947329
GRCh38:
39 overlap with 5 genes GRCh37/hg19 6q21(chr6:107331934-108121759) copy number loss Pathogenic 1047881 GRCh37: 6:107331934-108121759
GRCh38:
40 overlap with 3 genes GRCh37/hg19 22q13.33(chr22:51123491-51219009) copy number loss Pathogenic 1047893 GRCh37: 22:51123491-51219009
GRCh38:
41 overlap with 7 genes GRCh37/hg19 4p16.3(chr4:374557-745174) copy number gain Pathogenic 1047902 GRCh37: 4:374557-745174
GRCh38:
42 CDKL5 NM_001323289.2(CDKL5):c.183del (p.Met63fs) Deletion Pathogenic 143785 rs62643608 GRCh37: X:18593510-18593510
GRCh38: X:18575390-18575390
43 overlap with 24 genes GRCh37/hg19 15q11.2-13.1(chr15:23810397-29213787) copy number gain Pathogenic 523251 GRCh37: 15:23810397-29213787
GRCh38:
44 CHRNA1 NM_001039523.3(CHRNA1):c.1396G>A (p.Gly466Arg) SNV Pathogenic 449923 rs768407867 GRCh37: 2:175612905-175612905
GRCh38: 2:174748177-174748177
45 FOXP1 NM_032682.5(FOXP1):c.1348+1G>C SNV Pathogenic 587696 rs1559619762 GRCh37: 3:71026978-71026978
GRCh38: 3:70977827-70977827
46 TMCO1 NM_019026.6(TMCO1):c.463C>T (p.Arg155Ter) SNV Pathogenic 598963 rs765379963 GRCh37: 1:165712409-165712409
GRCh38: 1:165743172-165743172
47 NSD1 NM_022455.4(NSD1):c.3839G>A (p.Trp1280Ter) SNV Pathogenic 159315 rs587784105 GRCh37: 5:176662864-176662864
GRCh38: 5:177235863-177235863
48 KMT2A NM_001197104.2(KMT2A):c.7020del (p.Asn2340fs) Deletion Pathogenic 992730 GRCh37: 11:118373627-118373627
GRCh38: 11:118502912-118502912
49 CREBBP GRCh37/hg19 16p13.3(chr16:3784414-3821324) copy number loss Pathogenic 1047867 GRCh37: 16:3784414-3821324
GRCh38:
50 overlap with 1297 genes Duplication Pathogenic 488014 GRCh37:
GRCh38: X:1-156040895

Copy number variations for Autism from CNVD:

7 (show top 50) (show all 2458)
# CNVD ID Chromosome Start End Type Gene Symbol CNVD Disease
1 13764 1 1 28000000 Loss Autism
2 13902 1 10075582 11158005 Loss Autism
3 14098 1 103956056 104113271 Copy number Autism
4 14424 1 108105015 108110680 Gain VAV3 Autism
5 14687 1 109988334 109993086 Deletion or duplication Autism
6 14934 1 111291266 111291409 Loss LRIF1 Autism
7 15234 1 113734887 113735415 Loss MAGI3 Autism
8 15682 1 1180538 1207334 Copy number SDF4 Autism
9 15693 1 118296377 118296518 Gain WDR3 Autism
10 15989 1 1207568 1210341 Copy number B3GALT6 Autism
11 16771 1 1370430 1429557 Loss ATAD3B Autism
12 17284 1 142400000 148000000 Deletion Autism
13 17305 1 142400000 148000000 Duplication Autism
14 17328 1 142400000 148000000 Microdeletions and microduplications Autism
15 17370 1 142600000 147000000 Copy number Autism
16 17384 1 142600000 147000000 Deletion or duplication Autism
17 17385 1 142600000 147000000 Deletion or duplication Autism
18 18034 1 143650000 145000000 Loss Autism
19 18128 1 144124744 144396898 Loss Autism
20 18204 1 144337336 144456849 Gain Autism
21 18273 1 144838594 146308287 Gain BCL9 Autism
22 18300 1 144943150 145824905 Duplication ACP6 Autism
23 18301 1 144943150 145824905 Duplication BCL9 Autism
24 18302 1 144943150 145824905 Duplication CHD1L Autism
25 18303 1 144943150 145824905 Duplication FMO5 Autism
26 18304 1 144943150 145824905 Duplication GJA5 Autism
27 18305 1 144943150 145824905 Duplication PRKAB2 Autism
28 18318 1 144970329 145863421 Duplication Autism
29 18333 1 145013719 146293282 Loss Autism
30 18374 1 145119362 145761156 Gain Autism
31 18390 1 145303997 145357746 Deletion Autism
32 18391 1 145303997 145357746 Homozyg deletion Autism
33 19042 1 148307246 148307430 Gain VPS45 Autism
34 19443 1 150322696 150327314 Copy number S100A5 Autism
35 19590 1 150822223 150852849 Loss LCE3B Autism
36 19591 1 150822223 150852849 Loss LCE3C Autism
37 19764 1 151240762 151240937 Loss SPRR3 Autism
38 19944 1 152055312 152055457 Loss GATAD2B Autism
39 21488 1 1590917 1590971 Gain CDK11B Autism
40 22564 1 167493526 167507362 Loss NME7 Autism
41 23029 1 170820885 170824528 Gain SUCO Autism
42 23630 1 172142024 172310899 Gain RC3H1 Autism
43 23754 1 173697478 174026214 Gain TNR Autism
44 24014 1 174300000 178600000 Duplication PAPPA2 Autism
45 24015 1 174300000 178600000 Duplication COP1 Autism
46 24028 1 174500555 174543675 Duplication PAPPA2 Autism
47 24029 1 174500555 174543675 Duplication COP1 Autism
48 24297 1 178294383 178599040 Loss Autism
49 24421 1 180110206 180266346 Loss Autism
50 24441 1 180626647 180627201 Loss GLUL Autism

Expression for Autism

Search GEO for disease gene expression data for Autism.

Pathways for Autism

Pathways related to Autism according to KEGG:

36
# Name Kegg Source Accession
1 Cell adhesion molecules hsa04514
2 Glutamatergic synapse hsa04724
3 Wnt signaling pathway hsa04310
4 mTOR signaling pathway hsa04150

Pathways related to Autism according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.43 SCN2A SCN1A AP2M1
2 10.62 PTEN NSD1 CREBBP
3 9.91 STXBP1 CHRNA1

GO Terms for Autism

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

# Name GO ID Score Top Affiliating Genes
1 glutamatergic synapse GO:0098978 9.62 STXBP1 SCN2A CDKL5 AP2M1
2 nucleoplasm GO:0005654 9.4 TCF20 STXBP1 SCN1A PTEN NSD1 MBD5
3 voltage-gated sodium channel complex GO:0001518 9.26 SCN2A SCN1A
4 node of Ranvier GO:0033268 9.16 SCN2A SCN1A
5 sodium channel complex GO:0034706 8.96 SCN2A SCN1A

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

# Name GO ID Score Top Affiliating Genes
1 chromatin organization GO:0006325 9.67 NSD1 KMT2A CHD8 BPTF
2 long-term synaptic depression GO:0060292 9.32 STXBP1 PTEN
3 membrane depolarization during action potential GO:0086010 9.26 SCN2A SCN1A
4 cellular response to electrical stimulus GO:0071257 9.16 RPE65 PTEN
5 prepulse inhibition GO:0060134 8.96 PTEN CHD8
6 neuronal action potential GO:0019228 8.8 SCN2A SCN1A CHRNA1

Sources for Autism

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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....