MCID: ATS364
MIFTS: 74

Autism

Categories: Eye diseases, Genetic diseases, Mental diseases, Neuronal diseases, Oral diseases, Rare diseases
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Aliases & Classifications for Autism

MalaCards integrated aliases for Autism:

Name: Autism 57 11 75 28 5 14 36 38 16
Autistic Disorder 57 11 43 14 71
Autism Susceptibility 1 57 28 5
Childhood Autism 11 31
Autistic Disorder of Childhood Onset 11
Kanner's Syndrome 11
Infantile Autism 11
Autistic 53

Characteristics:


Inheritance:

Isolated cases 57

OMIM®:

57 (Updated 08-Dec-2022)
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


Classifications:



External Ids:

Disease Ontology 11 DOID:12849
OMIM® 57 209850
OMIM Phenotypic Series 57 PS209850
ICD9CM 34 299.0
MeSH 43 D001321
NCIt 49 C97161
SNOMED-CT 68 38763009
ICD10 31 F84.0
MedGen 40 C0004352
UMLS 71 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 08-Dec-2022)

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 SCN1A (Sodium Voltage-Gated Channel Alpha Subunit 1), and among its related pathways/superpathways are Neuroscience and Pathways affected in adenoid cystic carcinoma. The drugs Acetylcholine and Memantine have been mentioned in the context of this disorder. Affiliated tissues include Umbilical Cord, brain and bone marrow, and related phenotypes are seizure and eeg abnormality

Disease Ontology: 11 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.

Wikipedia: 75 The autism spectrum, often referred to as just autism or in the context of a professional diagnosis... 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 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 1941)
# Related Disease Score Top Affiliating Genes
1 autism spectrum disorder 34.6 TCF20 STXBP1 STX1A SCN2A SCN1A PTEN
2 pervasive developmental disorder 33.4 SCN2A SCN1A PTEN NRXN1 CHD8 CDKL5
3 attention deficit-hyperactivity disorder 33.2 TCF20 STX1A SCN2A SCN1A NRXN1 CHD8
4 rett syndrome 33.0 STXBP1 SCN2A SCN1A PTEN CDKL5
5 kleefstra syndrome 32.4 NSD1 NRXN1 MBD5 KMT2A CHD8
6 pitt-hopkins syndrome 32.2 STXBP1 SCN2A NRXN1 MBD5 CHD8 CDKL5
7 sotos syndrome 32.2 NSD1 MBD5 CHD8
8 landau-kleffner syndrome 32.1 STXBP1 SCN2A SCN1A CDKL5
9 developmental and epileptic encephalopathy 13 32.0 SCN2A SCN1A
10 non-specific syndromic intellectual disability 31.8 TCF20 SCN2A BPTF
11 overgrowth syndrome 31.6 NSD1 CHD8
12 west syndrome 31.6 STXBP1 SCN2A SCN1A PTEN NRXN1 MBD5
13 williams-beuren syndrome 31.5 STX1A NSD1 NRXN1 CDKL5
14 microcephaly 31.2 STXBP1 SCN1A PTEN PRR12 NSD1 NRXN1
15 encephalopathy 31.2 STXBP1 SCN1A CDKL5
16 syndromic intellectual disability 31.1 NSD1 NRXN1 MBD5 KMT2A FOXP1 CHD8
17 focal epilepsy 31.0 SCN2A SCN1A CDKL5
18 developmental and epileptic encephalopathy 30.9 STXBP1 SCN2A SCN1A NRXN1 CDKL5
19 dravet syndrome 30.8 STXBP1 SCN2A SCN1A CDKL5
20 early infantile epileptic encephalopathy 30.8 STXBP1 STX1A SCN2A SCN1A NRXN1 MBD5
21 lennox-gastaut syndrome 30.8 STXBP1 SCN2A SCN1A CDKL5
22 coffin-siris syndrome 1 30.7 SCN2A SCN1A NRXN1 MBD5 CREBBP
23 early myoclonic encephalopathy 30.7 STXBP1 SCN2A SCN1A CDKL5
24 benign familial neonatal epilepsy 30.7 STXBP1 SCN2A SCN1A CDKL5
25 childhood absence epilepsy 30.6 STXBP1 SCN2A SCN1A CDKL5
26 developmental and epileptic encephalopathy 9 30.6 STXBP1 SCN2A SCN1A CDKL5
27 epilepsy, idiopathic generalized 30.6 STXBP1 SCN2A SCN1A NRXN1 CDKL5
28 benign epilepsy with centrotemporal spikes 30.6 STXBP1 SCN2A SCN1A NRXN1 CDKL5
29 benign neonatal seizures 30.5 STXBP1 SCN2A SCN1A CDKL5
30 ohtahara syndrome 30.5 STXBP1 SCN2A SCN1A CDKL5
31 generalized epilepsy with febrile seizures plus 30.5 STXBP1 SCN2A SCN1A CDKL5
32 epilepsy, myoclonic juvenile 30.5 STXBP1 SCN2A SCN1A CDKL5
33 intellectual developmental disorder, autosomal dominant 1 30.4 NSD1 MBD5
34 kabuki syndrome 1 30.4 NSD1 KMT2A CREBBP CHD8
35 epilepsy, pyridoxine-dependent 30.4 STXBP1 SCN2A SCN1A CDKL5
36 developmental and epileptic encephalopathy 1 30.4 STXBP1 SCN1A CDKL5
37 complex partial epilepsy 30.3 STXBP1 MBD5
38 chromosome 16p13.3 deletion syndrome, proximal 30.3 NSD1 KMT2A CREBBP
39 developmental and epileptic encephalopathy 7 30.3 SCN2A SCN1A
40 pitt-hopkins-like syndrome 2 30.3 STXBP1 NRXN1
41 hemimegalencephaly 30.2 SCN1A PTEN
42 mowat-wilson syndrome 30.2 NRXN1 MBD5 CDKL5
43 developmental and epileptic encephalopathy 2 30.2 STXBP1 SCN2A SCN1A CDKL5
44 photosensitive epilepsy 30.1 STXBP1 SCN2A SCN1A CDKL5
45 autosomal dominant nocturnal frontal lobe epilepsy 30.1 STXBP1 SCN2A SCN1A CDKL5
46 progressive myoclonus epilepsy 30.1 STXBP1 SCN2A SCN1A
47 alcohol-related neurodevelopmental disorder 29.5 STXBP1 CDKL5
48 autism 16 11.6
49 autism x-linked 4 11.6
50 autism 15 11.6

Graphical network of the top 20 diseases related to Autism:



Diseases related to Autism

Symptoms & Phenotypes for Autism

Human phenotypes related to Autism:

30 (show all 12)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 seizure 30 Frequent (33%) HP:0001250
2 eeg abnormality 30 Frequent (33%) HP:0002353
3 increased serum serotonin 30 Frequent (33%) HP:0003144
4 intellectual disability 30 HP:0001249
5 delayed speech and language development 30 HP:0000750
6 autism 30 HP:0000717
7 restrictive behavior 30 HP:0000723
8 motor stereotypy 30 HP:0000733
9 lack of spontaneous play 30 HP:0000721
10 impaired ability to form peer relationships 30 HP:0000728
11 inflexible adherence to routines or rituals 30 HP:0000732
12 abnormal nonverbal communicative behavior 30 HP:0000758

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
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 08-Dec-2022)

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

25 (show all 33)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-11 10.21 CHRNA1
2 Increased shRNA abundance (Z-score > 2) GR00366-A-111 10.21 KMT2A
3 Increased shRNA abundance (Z-score > 2) GR00366-A-112 10.21 BPTF
4 Increased shRNA abundance (Z-score > 2) GR00366-A-12 10.21 BPTF
5 Increased shRNA abundance (Z-score > 2) GR00366-A-130 10.21 KMT2A
6 Increased shRNA abundance (Z-score > 2) GR00366-A-139 10.21 BPTF
7 Increased shRNA abundance (Z-score > 2) GR00366-A-151 10.21 PTEN
8 Increased shRNA abundance (Z-score > 2) GR00366-A-155 10.21 CHRNA1
9 Increased shRNA abundance (Z-score > 2) GR00366-A-16 10.21 PTEN
10 Increased shRNA abundance (Z-score > 2) GR00366-A-168 10.21 BPTF CHRNA1 KMT2A PTEN
11 Increased shRNA abundance (Z-score > 2) GR00366-A-180 10.21 BPTF
12 Increased shRNA abundance (Z-score > 2) GR00366-A-185 10.21 BPTF
13 Increased shRNA abundance (Z-score > 2) GR00366-A-190 10.21 BPTF
14 Increased shRNA abundance (Z-score > 2) GR00366-A-202 10.21 BPTF
15 Increased shRNA abundance (Z-score > 2) GR00366-A-212 10.21 BPTF
16 Increased shRNA abundance (Z-score > 2) GR00366-A-214 10.21 PTEN
17 Increased shRNA abundance (Z-score > 2) GR00366-A-32 10.21 CHRNA1
18 Increased shRNA abundance (Z-score > 2) GR00366-A-36 10.21 BPTF
19 Increased shRNA abundance (Z-score > 2) GR00366-A-4 10.21 BPTF
20 Increased shRNA abundance (Z-score > 2) GR00366-A-42 10.21 CHRNA1 PTEN
21 Increased shRNA abundance (Z-score > 2) GR00366-A-46 10.21 CHRNA1
22 Increased shRNA abundance (Z-score > 2) GR00366-A-52 10.21 BPTF
23 Increased shRNA abundance (Z-score > 2) GR00366-A-57 10.21 CHRNA1
24 Increased shRNA abundance (Z-score > 2) GR00366-A-63 10.21 CHRNA1 PTEN
25 Increased shRNA abundance (Z-score > 2) GR00366-A-66 10.21 PTEN
26 Increased shRNA abundance (Z-score > 2) GR00366-A-73 10.21 CHRNA1
27 Increased shRNA abundance (Z-score > 2) GR00366-A-77 10.21 KMT2A
28 Increased shRNA abundance (Z-score > 2) GR00366-A-87 10.21 PTEN
29 Increased shRNA abundance (Z-score > 2) GR00366-A-88 10.21 KMT2A
30 Increased shRNA abundance (Z-score > 2) GR00366-A-91 10.21 KMT2A
31 Increased shRNA abundance (Z-score > 2) GR00366-A-93 10.21 PTEN
32 Resistant to vaccinia virus (VACV-A4L) infection GR00351-A-1 9.76 ATP6V0A1 BPTF DPYD MBD5 NAA15 SCN1A
33 Reduced mammosphere formation GR00396-S 9.17 ATP6V0A1 BPTF KMT2A PTEN SCN2A STX1A

MGI Mouse Phenotypes related to Autism:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 10.24 ATP6V0A1 BPTF CDKL5 CHD8 CHRNA1 CREBBP
2 growth/size/body region MP:0005378 10.17 ATP6V0A1 BPTF CHD8 CREBBP FOXP1 KMT2A
3 behavior/neurological MP:0005386 10.06 ATP6V0A1 CDKL5 CHD8 CHRNA1 CREBBP DPYD
4 embryo MP:0005380 9.91 BPTF CHD8 CREBBP FOXP1 KMT2A NSD1
5 skeleton MP:0005390 9.61 ATP6V0A1 BPTF CHRNA1 CREBBP KMT2A MBD5
6 mortality/aging MP:0010768 9.53 ATP6V0A1 BPTF CHD8 CHRNA1 CREBBP FOXP1

Drugs & Therapeutics for Autism

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

(show top 50) (show all 408)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Acetylcholine Approved, Investigational Phase 4 51-84-3 187
2
Memantine Approved, Investigational Phase 4 41100-52-1, 19982-08-2 4054
3
Dopamine Approved Phase 4 62-31-7, 51-61-6 681
4
Atomoxetine Approved Phase 4 82248-59-7, 83015-26-3 54841
5
Milnacipran Approved, Investigational Phase 4 92623-85-3, 96847-54-0 11622909 65833 6917779
6
Norepinephrine Approved Phase 4 51-41-2 439260
7
Valproic acid Approved, Investigational Phase 4 99-66-1 3121
8
Methylphenidate Approved, Investigational Phase 4 113-45-1 4158
9
Olanzapine Approved, Investigational Phase 4 132539-06-1 135398745 4585
10
Guanfacine Approved, Investigational Phase 4 29110-47-2 3519
11
Inositol Approved, Investigational, Withdrawn Phase 4 87-89-8
12
Gabapentin Approved, Investigational Phase 4 60142-96-3 3446
13
Aripiprazole Approved, Investigational Phase 4 129722-12-9 60795
14
Risperidone Approved, Investigational Phase 4 106266-06-2 5073
15
Choline Approved, Nutraceutical Phase 4 62-49-7 305
16
Melatonin Approved, Nutraceutical, Vet_approved Phase 4 73-31-4 896
17 Hypolipidemic Agents Phase 4
18 Lipid Regulating Agents Phase 4
19 Immunoglobulins, Intravenous Phase 4
20 gamma-Globulins Phase 4
21 Rho(D) Immune Globulin Phase 4
22 Neurotransmitter Agents Phase 4
23 Dopamine Agents Phase 4
24 Antiparkinson Agents Phase 4
25 Excitatory Amino Acid Antagonists Phase 4
26 Adrenergic Agents Phase 4
27 Antidepressive Agents Phase 4
28 Serotonin and Noradrenaline Reuptake Inhibitors Phase 4
29 Gastrointestinal Agents Phase 4
30 Antiemetics Phase 4
31 Antihypertensive Agents Phase 4
32 Insulin, Globin Zinc Phase 4
33
Insulin Phase 4
34 Serotonin Uptake Inhibitors Phase 4
35 Serotonin Receptor Agonists Phase 4
36 Adrenergic alpha-Agonists Phase 4
37 Adrenergic Agonists Phase 4
38 Psychotropic Drugs Phase 4
39 Dopamine agonists Phase 4
40 Antipsychotic Agents Phase 4
41 Dopamine Antagonists Phase 4
42 Serotonin 5-HT1 Receptor Agonists Phase 4
43
Lisdexamfetamine Dimesylate Phase 4
44 Protective Agents Phase 4
45 Antioxidants Phase 4
46
Serotonin Investigational, Nutraceutical Phase 4 50-67-9 5202
47
Everolimus Approved Phase 2, Phase 3 159351-69-6 70789204 6442177
48
Galantamine Approved Phase 3 357-70-0, 1953-04-4 9651
49
Histamine Approved, Investigational Phase 3 51-45-6 774
50
Hydroxocobalamin Approved Phase 2, Phase 3 13422-51-0 15589840 44475014

Interventional clinical trials:

(show top 50) (show all 1389)
# Name Status NCT ID Phase Drugs
1 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
2 Intranasal Dexmedetomidine vs Oral Triclofos Sodium Sedation for Children With Autism Undergoing Electroencephalograms - A Randomized Controlled Trial. Unknown status NCT04270708 Phase 4 Dexmedetomidine;Triclofos 100 MG/ML
3 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
4 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%
5 Milnacipran in Autism and the Functional Locus Coeruleus and Noradrenergic Model of Autism Completed NCT01337700 Phase 4 Milnacipran;Placebo
6 Treatment of Childhood Regressive Autism With Minocycline: an Anti-Inflammatory Agent Active Within the CNS Completed NCT00409747 Phase 4 Minocycline
7 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
8 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
9 The Role of Omega-3 Fatty Acids in the Management of Singaporean Children With Autism Spectrum Disorders Completed NCT01695200 Phase 4
10 Atomoxetine, Placebo and Parent Management Training in Autism Completed NCT00844753 Phase 4 atomoxetine;Placebo
11 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
12 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
13 Improving Driving in Young People With Autism Spectrum Disorders Completed NCT03538431 Phase 4 Buspirone
14 Divalproex Sodium ER in Adult Autism Completed NCT00211796 Phase 4 Divalproex Sodium ER
15 Oxytocin-based Pharmacotherapy for Autism Spectrum Disorders: Investigating the Neural and Behavioral Effects of a Promising Intervention Approach Completed NCT02940574 Phase 4 Syntocinon (Oxytocin)
16 A Study of Memantine Hydrochloride (Namenda®) for Cognitive and Behavioral Impairment in Adults With Autism Spectrum Disorders Completed NCT01333865 Phase 4 Memantine
17 Multisite Study: Acquisition of Social Skills in Children With Autism Using Video Modeling in Parental Training Completed NCT02235467 Phase 4
18 Biomarkers in Autism of Aripiprazole and Risperidone Treatment Completed NCT01333072 Phase 4 Aripiprazole;Risperidone
19 A Prospective Open-label Trial of Metformin for Weight Control of Pediatric Patients on Atypical Antipsychotic Medications. Completed NCT00391261 Phase 4 Metformin
20 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
21 Metabolic Effects of Antipsychotics in Children Completed NCT00205699 Phase 4 risperidone;olanzapine;aripiprazole
22 Guanfacine for the Treatment of Hyperactivity in Pervasive Developmental Disorder Completed NCT01238575 Phase 4 extended-release guanfacine
23 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
24 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
25 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
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 Biomarker-Driven Pharmacological Treatment for Autism Spectrum Disorder Recruiting NCT05063656 Phase 4 Gabapentin
28 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
29 Pragmatic Trial Comparing Weight Gain in Children With Autism Taking Risperidone Versus Aripiprazole Recruiting NCT04903353 Phase 4 Comparison of Risperidone and Aripiprazole
30 Safety and Pharmacokinetics of Antipsychotics in Children 2: Studying TDM in an RCT Recruiting NCT05146245 Phase 4
31 Connecting the Dots: An RCT Integrating Standardized ASD Screening, High-Quality Treatment, and Long-Term Outcomes Enrolling by invitation NCT03333629 Phase 4
32 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
33 A Phase 3, Multicenter, Randomized, Double-blind, Placebo Controlled Trial of Brexpiprazole in Treatment of Children and Adolescents With Irritability Associated With Autism Spectrum Disorder Unknown status NCT04174365 Phase 3 Brexpiprazole;Placebo
34 A Phase 3, Multicenter, Open Label Trial to Evaluate the Long-term Safety and Tolerability of Brexpiprazole in Treatment of Children and Adolescents With Irritability Associated With Autism Spectrum Disorder Unknown status NCT04258839 Phase 3 Brexpiprazole
35 Efficacy of RAD001/Everolimus in Autism and NeuroPsychological Deficits in Children With Tuberous Sclerosis Complex Unknown status NCT01730209 Phase 2, Phase 3 Everolimus;Placebo
36 Valproate Response in Aggressive Autistic Adolescents Unknown status NCT00065884 Phase 3 Valproate
37 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
38 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
39 Galantamine Versus Placebo in Childhood Autism Completed NCT00252603 Phase 3 Galantamine
40 Phase II/III Clinical Trial of NPC-15 - Verification of the Efficacy for Sleep Disorders of Children With Autism Spectrum Disorders - Completed NCT02757066 Phase 2, Phase 3 NPC-15 Granules Lower Dose;NPC-15 Granules Higher Dose;NPC-15 Placebo Granule
41 A Prospective, Open-Label Study of Paliperidone ER in Adolescents and Young Adults With Autism Completed NCT00549562 Phase 3 Paliperidone ER
42 An Examination of Changes in Urinary Metabolites With Use of Folinic Acid in Children With Autism Spectrum Disorder (ASD) Completed NCT03771560 Phase 2, Phase 3 folinic acid
43 Behavioral and Neural Response to Memantine in Adolescents With Autism Spectrum Disorder Completed NCT01972074 Phase 3 Memantine
44 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
45 Phase III Study of Autism Co-Morbid for Attention Deficit Hyperactivity Disorder Completed NCT00541346 Phase 3 Methylphenidate Transdermal System
46 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
47 An Examination of Changes in Urinary Metabolites With Use of an Antioxidant Supplement, Sulforaphane, in School-aged Children With Autism Completed NCT02654743 Phase 3
48 Testing a Novel Speech Intervention in Minimally Verbal Children With Autism Spectrum Disorder (ASD) Completed NCT03015272 Phase 2, Phase 3
49 A Phase III, Randomized, Double-Blind, Placebo-Controlled, Multiple Dose Study to Assess the Efficacy, Safety and Tolerability of RG1068 (Synthetic Human Secretin) in Children With Autism Completed NCT00036244 Phase 3 RG1068 (Synthetic Human Secretin)
50 Supporting the Well Being of Families of Young Children With Autism Spectrum Completed NCT01021384 Phase 3

Search NIH Clinical Center for Autism

Inferred drug relations via UMLS 71 / NDF-RT 50 :


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 Autism 28 SNRPN
2 Autism Susceptibility 1 28

Anatomical Context for Autism

Organs/tissues related to Autism:

MalaCards : Brain, Bone Marrow, Eye, Prefrontal Cortex, Cortex, Cerebellum, Amygdala
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 40382)
# Title Authors PMID Year
1
Identification of significant association and gene-gene interaction of GABA receptor subunit genes in autism. 62 57 5
16080114 2005
2
Molecular genetic analysis of the FMR-1 gene in a large collection of autistic patients. 53 62 57
9254854 1997
3
Single-cell genomics identifies cell type-specific molecular changes in autism. 62 57
31097668 2019
4
Comparative Analyses of Copy-Number Variation in Autism Spectrum Disorder and Schizophrenia Reveal Etiological Overlap and Biological Insights. 62 5
30208311 2018
5
Paternally inherited cis-regulatory structural variants are associated with autism. 62 57
29674594 2018
6
Infant viewing of social scenes is under genetic control and is atypical in autism. 62 57
28700580 2017
7
Genome-wide changes in lncRNA, splicing, and regional gene expression patterns in autism. 62 57
27919067 2016
8
The maternal interleukin-17a pathway in mice promotes autism-like phenotypes in offspring. 62 57
26822608 2016
9
The contribution of de novo coding mutations to autism spectrum disorder. 62 57
25363768 2014
10
Synaptic, transcriptional and chromatin genes disrupted in autism. 62 57
25363760 2014
11
The familial risk of autism. 62 57
24794370 2014
12
Convergence of genes and cellular pathways dysregulated in autism spectrum disorders. 62 57
24768552 2014
13
De novo SCN2A splice site mutation in a boy with Autism spectrum disorder. 62 57
24650168 2014
14
Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder. 62 57
24094742 2013
15
Transmission disequilibrium of small CNVs in simplex autism. 62 57
24035194 2013
16
Topoisomerases facilitate transcription of long genes linked to autism. 62 57
23995680 2013
17
Detection of clinically relevant genetic variants in autism spectrum disorder by whole-genome sequencing. 62 57
23849776 2013
18
Intellectual disability is associated with increased runs of homozygosity in simplex autism. 62 57
23830515 2013
19
Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder. 62 57
23375656 2013
20
Rare complete knockouts in humans: population distribution and significant role in autism spectrum disorders. 62 57
23352160 2013
21
Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders. 62 57
23160955 2012
22
Genome-wide transcriptome profiling reveals the functional impact of rare de novo and recurrent CNVs in autism spectrum disorders. 62 57
22726847 2012
23
Scan-statistic approach identifies clusters of rare disease variants in LRP2, a gene linked and associated with autism spectrum disorders, in three datasets. 62 57
22578327 2012
24
Patterns and rates of exonic de novo mutations in autism spectrum disorders. 62 57
22495311 2012
25
De novo mutations revealed by whole-exome sequencing are strongly associated with autism. 62 57
22495306 2012
26
Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations. 62 57
22495309 2012
27
Rare deletions at the neurexin 3 locus in autism spectrum disorder. 62 57
22209245 2012
28
Truncating mutations in NRXN2 and NRXN1 in autism spectrum disorders and schizophrenia. 62 57
21424692 2011
29
Rare de novo variants associated with autism implicate a large functional network of genes involved in formation and function of synapses. 62 57
21658583 2011
30
Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations. 62 57
21572417 2011
31
Rare de novo and transmitted copy-number variation in autistic spectrum disorders. 62 57
21658582 2011
32
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism. 62 57
21658581 2011
33
Transcriptomic analysis of autistic brain reveals convergent molecular pathology. 62 57
21614001 2011
34
Mitochondrial dysfunction in autism. 62 57
21119085 2010
35
Deletion 17q12 is a recurrent copy number variant that confers high risk of autism and schizophrenia. 62 57
21055719 2010
36
Autism in three patients with cystic or hyperechogenic kidneys and chromosome 17q12 deletion. 62 57
20587423 2010
37
Direct measure of the de novo mutation rate in autism and schizophrenia cohorts. 62 57
20797689 2010
38
Functional impact of global rare copy number variation in autism spectrum disorders. 62 57
20531469 2010
39
SCAMP5, NBEA and AMISYN: three candidate genes for autism involved in secretion of large dense-core vesicles. 62 57
20071347 2010
40
Autism. 62 57
19819542 2009
41
A genome-wide linkage and association scan reveals novel loci for autism. 62 57
19812673 2009
42
Linkage and linkage disequilibrium scan for autism loci in an extended pedigree from Finland. 62 57
19454485 2009
43
A genome-wide association study of autism reveals a common novel risk locus at 5p14.1. 62 57
19456320 2009
44
Common genetic variants on 5p14.1 associate with autism spectrum disorders. 62 57
19404256 2009
45
Autism-specific copy number variants further implicate the phosphatidylinositol signaling pathway and the glutamatergic synapse in the etiology of the disorder. 62 57
19246517 2009
46
Autism genome-wide copy number variation reveals ubiquitin and neuronal genes. 62 57
19404257 2009
47
Disruption of contactin 4 in three subjects with autism spectrum disorder. 62 57
18349135 2009
48
The DLX1and DLX2 genes and susceptibility to autism spectrum disorders. 62 57
18728693 2009
49
Hypothesis: dysregulation of methylation of brain-expressed genes on the X chromosome and autism spectrum disorders. 62 57
18698615 2008
50
Development and validation of a measure of dysmorphology: useful for autism subgroup classification. 62 57
18383511 2008

Variations for Autism

ClinVar genetic disease variations for Autism:

5 (show top 50) (show all 261)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CDKL5 NM_001323289.2(CDKL5):c.183del (p.Met63fs) DEL Pathogenic
143785 rs62643608 GRCh37: X:18593510-18593510
GRCh38: X:18575390-18575390
2 GSPT2 NM_018094.5(GSPT2):c.1021G>A (p.Val341Ile) SNV Pathogenic
375379 rs1057519440 GRCh37: X:51487743-51487743
GRCh38: X:51744647-51744647
3 overlap with 79 genes GRCh37/hg19 8p23.1-21.2(chr8:12580104-25947329) CN GAIN Pathogenic
523288 GRCh37: 8:12580104-25947329
GRCh38:
4 overlap with 17 genes GRCh37/hg19 8p23.3-23.1(chr8:194617-6816918) CN LOSS Pathogenic
523290 GRCh37: 8:194617-6816918
GRCh38:
5 overlap with 4 genes GRCh37/hg19 Xp22.31(chrX:6488721-8097511) CN LOSS Pathogenic
523298 GRCh37: X:6488721-8097511
GRCh38:
6 PRR12 NM_020719.3(PRR12):c.1918G>T (p.Glu640Ter) SNV Pathogenic
446254 rs1555740650 GRCh37: 19:50099510-50099510
GRCh38: 19:49596253-49596253
7 PRR12 NM_020719.3(PRR12):c.4502_4505del (p.Leu1501fs) DEL Pathogenic
446255 rs1555741826 GRCh37: 19:50104903-50104906
GRCh38: 19:49601646-49601649
8 PRR12 NM_020719.3(PRR12):c.903_909dup (p.Pro304fs) DUP Pathogenic
446256 rs1555740394 GRCh37: 19:50098491-50098492
GRCh38: 19:49595234-49595235
9 overlap with 20 genes NC_000015.10:g.(?_30568981)_(32151126_?)del DEL Pathogenic
545179 GRCh37:
GRCh38: 15:30568981-32151126
10 overlap with 20 genes NC_000015.10:g.(?_30568981)_(32318632_?)del DEL Pathogenic
545181 GRCh37:
GRCh38: 15:30568981-32318632
11 overlap with 52 genes DUP Pathogenic
545198 GRCh37:
GRCh38: 16:29401125-30312960
12 overlap with 46 genes NC_000016.10:g.(?_29480853)_(30254620_?)del DEL Pathogenic
545199 GRCh37:
GRCh38: 16:29480853-30254620
13 overlap with 39 genes DUP Pathogenic
545201 GRCh37:
GRCh38: 16:29553914-30184960
14 overlap with 22 genes NC_000017.11:g.(?_36446252)_(37887875_?)del DEL Pathogenic
545222 GRCh37:
GRCh38: 17:36446252-37887875
15 overlap with 90 genes DUP Pathogenic
545217 GRCh37:
GRCh38: 17:16770855-20422847
16 overlap with 94 genes NC_000017.11:g.(?_16770855)_(20585863_?)del DEL Pathogenic
545218 GRCh37:
GRCh38: 17:16770855-20585863
17 overlap with 31 genes NC_000017.11:g.(?_36143765)_(37995300_?)del DEL Pathogenic
545219 GRCh37:
GRCh38: 17:36143765-37995300
18 overlap with 58 genes DUP Pathogenic
545264 GRCh37:
GRCh38: 22:18904453-20324329
19 overlap with 83 genes DUP Pathogenic
545265 GRCh37:
GRCh38: 22:18904453-21277123
20 overlap with 73 genes DUP Pathogenic
545266 GRCh37:
GRCh38: 22:19295635-21510330
21 overlap with 2 genes NC_000002.12:g.(?_51001206)_(51200739_?)del DEL Pathogenic
545282 GRCh37:
GRCh38: 2:51001206-51200739
22 overlap with 4 genes NC_000002.12:g.(?_50496341)_(51317388_?)del DEL Pathogenic
545278 GRCh37:
GRCh38: 2:50496341-51317388
23 overlap with 131 genes DUP Pathogenic
545173 GRCh37:
GRCh38: 15:23319712-28800324
24 overlap with 9 genes NC_000015.10:g.(?_22570470)_(23226874_?)del DEL Pathogenic
545165 GRCh37:
GRCh38: 15:22570470-23226874
25 overlap with 177 genes DUP Pathogenic
545163 GRCh37:
GRCh38: 15:22420897-32130343
26 overlap with 46 genes DUP Pathogenic
545350 GRCh37:
GRCh38: 7:73323103-74726596
27 TCF20 NM_001378418.1(TCF20):c.2594C>G (p.Ser865Ter) SNV Pathogenic
590778 rs1569149539 GRCh37: 22:42608718-42608718
GRCh38: 22:42212712-42212712
28 TCF20 NM_001378418.1(TCF20):c.1810_1811del (p.Val604fs) DEL Pathogenic
590779 rs1569151204 GRCh37: 22:42609501-42609502
GRCh38: 22:42213495-42213496
29 CHD8 NM_001170629.2(CHD8):c.727C>T (p.Arg243Ter) SNV Pathogenic
975208 rs1555318552 GRCh37: 14:21899076-21899076
GRCh38: 14:21430917-21430917
30 overlap with 2 genes GRCh37/hg19 9p24.3(chr9:204193-340142) CN GAIN Pathogenic
997066 GRCh37: 9:204193-340142
GRCh38:
31 overlap with 27 genes GRCh37/hg19 16p11.2(chr16:29673954-30198600) CN GAIN Pathogenic
997089 GRCh37: 16:29673954-30198600
GRCh38:
32 CREBBP GRCh37/hg19 16p13.3(chr16:3784414-3821324) CN LOSS Pathogenic
1047867 GRCh37: 16:3784414-3821324
GRCh38:
33 overlap with 5 genes GRCh37/hg19 6q21(chr6:107331934-108121759) CN LOSS Pathogenic
1047881 GRCh37: 6:107331934-108121759
GRCh38:
34 overlap with 3 genes GRCh37/hg19 22q13.33(chr22:51123491-51219009) CN LOSS Pathogenic
1047893 GRCh37: 22:51123491-51219009
GRCh38:
35 overlap with 7 genes GRCh37/hg19 4p16.3(chr4:374557-745174) CN GAIN Pathogenic
1047902 GRCh37: 4:374557-745174
GRCh38:
36 NRXN1 NM_001135659.3:c.(?_-921)_(931+1_932-1)del DEL Pathogenic
1299323 GRCh37:
GRCh38:
37 NAA15 NM_057175.5(NAA15):c.995T>G (p.Leu332Ter) SNV Pathogenic
1330221 GRCh37: 4:140272746-140272746
GRCh38: 4:139351592-139351592
38 overlap with 4 genes GRCh37/hg19 15q11.2(chr15:22765628-23085096) CN LOSS Pathogenic
997051 GRCh37: 15:22765628-23085096
GRCh38:
39 CHRNA1 NM_000079.4(CHRNA1):c.1321G>A (p.Gly441Arg) SNV Pathogenic
449923 rs768407867 GRCh37: 2:175612905-175612905
GRCh38: 2:174748177-174748177
40 SCN2A NM_001040142.2(SCN2A):c.2229_2230del (p.Lys743fs) DEL Pathogenic
374268 rs1057518658 GRCh37: 2:166187919-166187920
GRCh38: 2:165331409-165331410
41 STXBP1 NM_001032221.6(STXBP1):c.1359+1G>T SNV Pathogenic
812770 rs796053370 GRCh37: 9:130439033-130439033
GRCh38: 9:127676754-127676754
42 FOXP1 NM_001349338.3(FOXP1):c.1348+1G>C SNV Pathogenic
587696 rs1559619762 GRCh37: 3:71026978-71026978
GRCh38: 3:70977827-70977827
43 overlap with 10 genes NC_000015.10:g.(?_22444190)_(23226874_?)del DEL Pathogenic
545164 GRCh37:
GRCh38: 15:22444190-23226874
44 overlap with 9 genes NC_000015.10:g.(?_22673143)_(23226874_?)del DEL Pathogenic
545166 GRCh37:
GRCh38: 15:22673143-23226874
45 overlap with 7 genes NC_000015.10:g.(?_22751662)_(23126124_?)del DEL Pathogenic
545169 GRCh37:
GRCh38: 15:22751662-23126124
46 overlap with 7 genes NC_000015.10:g.(?_22770232)_(23126124_?)del DEL Pathogenic
545170 GRCh37:
GRCh38: 15:22770232-23126124
47 overlap with 38 genes DUP Pathogenic
545205 GRCh37:
GRCh38: 16:29640511-30184960
48 MBD5 NC_000002.12:g.(?_148157591)_(148226058_?)del DEL Pathogenic
545248 GRCh37:
GRCh38: 2:148157591-148226058
49 AP2M1 NM_004068.4(AP2M1):c.508C>T (p.Arg170Trp) SNV Pathogenic
689722 rs1577059692 GRCh37: 3:183898715-183898715
GRCh38: 3:184180927-184180927
50 overlap with 6 genes GRCh37/hg19 2q12.3-13(chr2:109157562-110497991)x1 CN LOSS Pathogenic
1705945 GRCh37: 2:109157562-110497991
GRCh38:

Copy number variations for Autism from CNVD:

6 (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 19764 1 151240762 151240937 Loss SPRR3 Autism
36 21488 1 1590917 1590971 Gain CDK11B Autism
37 22564 1 167493526 167507362 Loss NME7 Autism
38 23029 1 170820885 170824528 Gain SUCO Autism
39 23630 1 172142024 172310899 Gain RC3H1 Autism
40 23754 1 173697478 174026214 Gain TNR Autism
41 24014 1 174300000 178600000 Duplication PAPPA2 Autism
42 24015 1 174300000 178600000 Duplication COP1 Autism
43 24028 1 174500555 174543675 Duplication PAPPA2 Autism
44 24029 1 174500555 174543675 Duplication COP1 Autism
45 24627 1 182952587 182952723 Loss EDEM3 Autism
46 24670 1 183364423 183402407 Gain TRMT1L Autism
47 24671 1 183364423 183402407 Gain SWT1 Autism
48 25129 1 184594231 184594414 Loss TPR Autism
49 25818 1 194978430 195090377 Gain CFHR1 Autism
50 25819 1 194978430 195090377 Gain CFHR3 Autism

Expression for Autism

Search GEO for disease gene expression data for Autism.

Pathways for Autism



Pathways directly related to Autism:

# Pathway Source
1 Defective SLC9A9 causes autism 16 (AUTS16) Reactome 66

Pathways related to Autism according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 12.09 STXBP1 STX1A SCN2A SCN1A
2 11.12 PTEN NSD1 CREBBP
3 10.94 STXBP1 SCN2A SCN1A CDKL5
4 10.62 PTEN CREBBP
5 9.75 STXBP1 STX1A CHRNA1

GO Terms for Autism

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

# Name GO ID Score Top Affiliating Genes
1 sodium channel complex GO:0034706 9.13 SCN2A SCN1A
2 obsolete integral component of presynaptic membrane GO:0099056 8.8 STX1A SCN2A NRXN1

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

# Name GO ID Score Top Affiliating Genes
1 social behavior GO:0035176 9.8 PTEN NRXN1 CHD8
2 neuronal action potential GO:0019228 9.63 SCN2A SCN1A CHRNA1
3 regulation of synaptic vesicle priming GO:0010807 9.56 STXBP1 STX1A
4 presynaptic membrane assembly GO:0097105 9.54 PTEN NRXN1
5 positive regulation of excitatory postsynaptic potential GO:2000463 9.43 STX1A PTEN NRXN1
6 prepulse inhibition GO:0060134 9.02 PTEN NRXN1 CHD8

Sources for Autism

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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