AUTSX2
MCID: ATS366
MIFTS: 45

Autism X-Linked 2 (AUTSX2)

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

Aliases & Classifications for Autism X-Linked 2

MalaCards integrated aliases for Autism X-Linked 2:

Name: Autism X-Linked 2 58
Mental Retardation, X-Linked 58 13 41 74
Autism, Susceptibility to, X-Linked 2 58 30 6
X-Linked Mental Retardation 77 38
Autsx2 58 76
Autism Susceptibility, X-Linked 2 58
Mental Retardation, X-Linked ) 41
Autism, X-Linked 2 76

Characteristics:

OMIM:

58
Inheritance:
isolated cases
multifactorial
x-linked

Miscellaneous:
genetic heterogeneity (see )
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


HPO:

33
autism x-linked 2:
Onset and clinical course childhood onset
Inheritance heterogeneous x-linked inheritance sporadic multifactorial inheritance


Classifications:



Summaries for Autism X-Linked 2

OMIM : 58 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). For a discussion of genetic heterogeneity of autism, see 209850. (300495)

MalaCards based summary : Autism X-Linked 2, also known as mental retardation, x-linked, is related to mental retardation, x-linked, with or without seizures, arx-related and mental retardation, x-linked, syndromic 13. An important gene associated with Autism X-Linked 2 is NLGN4X (Neuroligin 4 X-Linked), and among its related pathways/superpathways is Regulation of actin cytoskeleton. The drugs Lovastatin and Riluzole have been mentioned in the context of this disorder. Affiliated tissues include brain, testes and bone, and related phenotypes are seizures and eeg abnormality

UniProtKB/Swiss-Prot : 76 Autism, X-linked 2: A complex multifactorial, pervasive developmental disorder characterized by impairments in reciprocal social interaction and communication, restricted and stereotyped patterns of interests and activities, and the presence of developmental abnormalities by 3 years of age. Most individuals with autism also manifest moderate mental retardation.

Wikipedia : 77 X-linked intellectual disability (previously known as X-linked mental retardation) refers to forms of... more...

Related Diseases for Autism X-Linked 2

Diseases in the Autism X-Linked 2 family:

Autism X-Linked 1 Autism X-Linked 3
Autism X-Linked 4 Autism X-Linked 5
Autism X-Linked 6

Diseases related to Autism X-Linked 2 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 156)
# Related Disease Score Top Affiliating Genes
1 mental retardation, x-linked, with or without seizures, arx-related 12.8
2 mental retardation, x-linked, syndromic 13 12.8
3 mental retardation, x-linked, syndromic, cabezas type 12.8
4 mental retardation, x-linked, with cerebellar hypoplasia and distinctive facial appearance 12.7
5 mental retardation, x-linked 12 12.7
6 mental retardation, x-linked, with panhypopituitarism 12.7
7 mental retardation, x-linked, syndromic, nascimento type 12.7
8 mental retardation, x-linked, syndromic, hedera type 12.7
9 mental retardation, x-linked, syndromic, claes-jensen type 12.7
10 mental retardation, x-linked, syndromic, wu type 12.7
11 mental retardation, x-linked, syndromic, turner type 12.7
12 mental retardation, x-linked, syndromic, raymond type 12.7
13 mental retardation, x-linked 97 12.7
14 mental retardation, x-linked, syndromic 32 12.7
15 mental retardation, x-linked, syndromic 34 12.7
16 mental retardation, x-linked, syndromic, martin-probst type 12.7
17 mental retardation, x-linked 96 12.7
18 mental retardation, x-linked, associated with fragile site fraxe 12.7
19 mental retardation, x-linked 21 12.7
20 mental retardation, x-linked, syndromic, christianson type 12.7
21 mental retardation, x-linked 98 12.7
22 mental retardation, x-linked 99 12.7
23 mental retardation, x-linked 100 12.7
24 mental retardation, x-linked 101 12.7
25 mental retardation, x-linked 92 12.6
26 mental retardation, x-linked 102 12.6
27 mental retardation, x-linked, syndromic 33 12.6
28 mental retardation, x-linked, syndromic, 35 12.6
29 mental retardation, x-linked 99, syndromic, female-restricted 12.6
30 mental retardation, x-linked 103 12.6
31 mental retardation, x-linked 104 12.6
32 mental retardation, x-linked 105 12.6
33 mental retardation, x-linked, syndromic, bain type 12.6
34 mental retardation, x-linked 106 12.6
35 mental retardation, x-linked, syndromic, houge type 12.6
36 mental retardation, x-linked 107 12.6
37 mental retardation, x-linked, syndromic 17 12.5
38 mental retardation, x-linked, syndromic, chudley-schwartz type 12.5
39 mental retardation, x-linked, syndromic, snyder-robinson type 12.5
40 mental retardation, x-linked, syndromic 9 12.4
41 mental retardation, x-linked 23 12.4
42 mental retardation, x-linked, with craniofacial dysmorphism 12.4
43 mental retardation, x-linked 50 12.4
44 mental retardation, x-linked 53 12.4
45 mental retardation, x-linked 73 12.4
46 mental retardation, x-linked 42 12.4
47 syndromic x-linked mental retardation hough type 12.3
48 x-linked mental retardation craniofacial abnormal microcephaly club 12.3
49 lubs x-linked mental retardation syndrome 12.2
50 wilson-turner x-linked mental retardation syndrome 12.2

Graphical network of the top 20 diseases related to Autism X-Linked 2:



Diseases related to Autism X-Linked 2

Symptoms & Phenotypes for Autism X-Linked 2

Human phenotypes related to Autism X-Linked 2:

33 (show all 12)
# Description HPO Frequency HPO Source Accession
1 seizures 33 frequent (33%) HP:0001250
2 eeg abnormality 33 frequent (33%) HP:0002353
3 increased serum serotonin 33 frequent (33%) HP:0003144
4 intellectual disability 33 HP:0001249
5 delayed speech and language development 33 HP:0000750
6 stereotypy 33 HP:0000733
7 autism 33 HP:0000717
8 impaired use of nonverbal behaviors 33 HP:0000758
9 restrictive behavior 33 HP:0000723
10 lack of peer relationships 33 HP:0002332
11 lack of spontaneous play 33 HP:0000721
12 inflexible adherence to routines or rituals 33 HP:0000732

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
lack of peer relationships
mental retardation in 75%
seizures in 15-30%
eeg abnormalities in 20-50%
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%

Clinical features from OMIM:

300495

Drugs & Therapeutics for Autism X-Linked 2

Drugs for Autism X-Linked 2 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 236)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Lovastatin Approved, Investigational Phase 4,Phase 2 75330-75-5 53232
2
Riluzole Approved, Investigational Phase 4 1744-22-5 5070
3
Dopamine Approved Phase 4,Phase 3,Phase 2,Phase 1 62-31-7, 51-61-6 681
4
Risperidone Approved, Investigational Phase 4,Phase 3 106266-06-2 5073
5
Methylphenidate Approved, Investigational Phase 4 113-45-1 4158
6 Anticonvulsants Phase 4,Phase 3,Phase 2,Not Applicable
7 Excitatory Amino Acids Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
8 Protective Agents Phase 4,Phase 3,Phase 2,Not Applicable
9 Neurotransmitter Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
10 Excitatory Amino Acid Antagonists Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
11 Pharmaceutical Solutions Phase 4,Phase 3,Phase 2,Phase 1
12 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 4,Phase 2
13 Antimetabolites Phase 4,Phase 2,Phase 1,Not Applicable
14 Hypolipidemic Agents Phase 4,Phase 2,Not Applicable
15 Anticholesteremic Agents Phase 4,Phase 2
16 Lipid Regulating Agents Phase 4,Phase 2,Not Applicable
17 Dihydromevinolin Phase 4,Phase 2
18 L 647318 Phase 4,Phase 2
19 Neuroprotective Agents Phase 4,Not Applicable
20 Tranquilizing Agents Phase 4,Phase 3,Phase 2,Phase 1
21 Dopamine Antagonists Phase 4,Phase 3,Phase 2,Phase 1
22 Antipsychotic Agents Phase 4,Phase 3,Phase 2,Phase 1
23 Central Nervous System Depressants Phase 4,Phase 3,Phase 2,Phase 1
24 Neurotransmitter Uptake Inhibitors Phase 4,Phase 3,Phase 2,Phase 1
25 Dopamine Agents Phase 4,Phase 3,Phase 2,Phase 1
26 Serotonin Agents Phase 4,Phase 3,Phase 2,Phase 1
27 Serotonin Antagonists Phase 4,Phase 3,Phase 2
28 Psychotropic Drugs Phase 4,Phase 3,Phase 2,Phase 1
29 Central Nervous System Stimulants Phase 4
30 Dopamine Uptake Inhibitors Phase 4
31
Serotonin Investigational, Nutraceutical Phase 4,Phase 3,Phase 2,Phase 1 50-67-9 5202
32
Tocopherol Approved, Investigational Phase 3,Phase 2 1406-66-2 14986
33 Strawberry Approved Phase 3,Phase 2
34
Ethanol Approved Phase 3,Phase 2 64-17-5 702
35
Dextromethorphan Approved Phase 3,Phase 2,Not Applicable 125-71-3 5362449 5360696
36
Guaifenesin Approved, Investigational, Vet_approved Phase 3,Phase 2,Not Applicable 93-14-1 3516
37
Donepezil Approved Phase 3,Phase 2,Phase 1,Not Applicable 120014-06-4 3152
38
Baclofen Approved Phase 3,Phase 2 1134-47-0 2284
39
Stiripentol Approved Phase 3 49763-96-4
40
tannic acid Approved Phase 3,Phase 2 1401-55-4
41
Benzocaine Approved, Investigational Phase 3,Phase 2 94-09-7, 1994-09-7 2337
42
Acamprosate Approved, Investigational Phase 3,Phase 2 77337-76-9 71158
43
Busulfan Approved, Investigational Phase 2, Phase 3,Phase 3,Phase 1 55-98-1 2478
44
Prednisolone Approved, Vet_approved Phase 2, Phase 3 50-24-8 5755
45
Prednisolone phosphate Approved, Vet_approved Phase 2, Phase 3 302-25-0
46
Methylprednisolone hemisuccinate Approved Phase 2, Phase 3 2921-57-5
47
Methylprednisolone Approved, Vet_approved Phase 2, Phase 3 83-43-2 6741
48
Cyclophosphamide Approved, Investigational Phase 2, Phase 3,Phase 3 6055-19-2, 50-18-0 2907
49
Copper Approved, Investigational Phase 3,Phase 1,Phase 2 7440-50-8 27099
50
Metformin Approved Phase 2, Phase 3 657-24-9 14219 4091

Interventional clinical trials:

(show top 50) (show all 227)
# Name Status NCT ID Phase Drugs
1 Combining Lovastatin and a Parent-Implemented Language Intervention for Fragile X Syndrome Completed NCT02642653 Phase 4 Lovastatin
2 Riluzole in Fragile X Syndrome Completed NCT00895752 Phase 4 Riluzole
3 Safety and Clinical Outcomes in Hunter Syndrome Patients 5 Years of Age and Younger Receiving Idursulfase Therapy Completed NCT00607386 Phase 4
4 The Psychiatric and Cognitive Phenotypes in Velocardiofacial Syndrome Recruiting NCT00768820 Phase 4 methylphenidate, fluoxetin, risperidone
5 Long-term Evaluation on Height and Weight in Patients With MPS II Who Started Treatment at < 6 Years of Age Active, not recruiting NCT02455622 Phase 4 Elaprase for intravenous (IV) infusion
6 Clinical Trial for Asses the Safety and Efficacy of Vitamin C and Vitamin E in Combination Versus Placebo for Treating Cognitive and Behavior Disorder in Children With Fragile X Syndrome Unknown status NCT02942498 Phase 3 Vitamin C 10mg/Kg Vitamin E 10 mg/Kg;Placebo
7 GWPCARE2 A Study to Investigate the Efficacy and Safety of Cannabidiol (GWP42003-P) in Children and Young Adults With Dravet Syndrome Unknown status NCT02224703 Phase 3 GWP42003-P;Placebo Control
8 Independent Studies of Dextromethorphan and of Donepezil Hydrochloride for Rett Syndrome Unknown status NCT00069550 Phase 3 dextromethorphan;donepezil hydrochloride
9 Safety and Efficacy of Hunterase Completed NCT01645189 Phase 3
10 Efficacy and Safety Study of STX209 (Arbaclofen) for the Treatment of Social Withdrawal in Children With Fragile X Syndrome Completed NCT01325220 Phase 3 arbaclofen;arbaclofen;arbaclofen;Placebo
11 Efficacy and Safety Study of STX209 (Arbaclofen) for Social Withdrawal in Adolescents and Adults With Fragile X Syndrome Completed NCT01282268 Phase 3 arbaclofen;placebo
12 MD1003-AMN MD1003 in Adrenomyeloneuropathy Completed NCT02961803 Phase 2, Phase 3 MD1003 100 mg capsule;Placebo
13 A Two-Part Study to Investigate the Dose-Ranging Safety and Pharmacokinetics, Followed by the Efficacy and Safety of ZX008 (Fenfluramine Hydrochloride) Oral Solution as an Adjunctive Therapy in Children ≥2 Years Old and Young Adults With Dravet Syndrome Completed NCT02926898 Phase 3 ZX008 - 0.2 mg/kg/day;ZX008 - 0.4 mg/kg/day;ZX008 - 20 mg/day maximum dose;Matching Placebo
14 Study of Intrathecal Idursulfase-IT Administered in Conjunction With Elaprase® in Pediatric Patients With Hunter Syndrome and Early Cognitive Impairment Completed NCT02055118 Phase 2, Phase 3
15 Antiepileptic Efficacy Study of GWP42003-P in Children and Young Adults With Dravet Syndrome (GWPCARE1) Completed NCT02091375 Phase 3 GWP42003-P 20 mg/kg/day Dose;Placebo control
16 Acamprosate in Youth With Fragile X Syndrome Completed NCT01300923 Phase 3 Acamprosate
17 A Study of the Effectiveness and Safety of Risperidone Versus Placebo in the Treatment of Children With Autistic Disorder and Other Pervasive Developmental Disorders (PDD) Completed NCT00261508 Phase 3 risperidone
18 Extension of Study TKT024 Evaluating Long-Term Safety and Clinical Outcomes in MPS II Patients Receiving Idursulfase Completed NCT00630747 Phase 2, Phase 3
19 Stem Cell Transplant for Inborn Errors of Metabolism Completed NCT00176904 Phase 2, Phase 3 Busulfan, Cyclophosphamide, Antithymocyte Globulin
20 Iduronate-2-sulfatase Enzyme Replacement Therapy in Mucopolysaccharidosis II (MPS II) Completed NCT00069641 Phase 2, Phase 3
21 Compassionate Treatment of Patients With Inborn Errors of Bile Acid Metabolism With Cholic Acid Completed NCT00007020 Phase 3 Cholic Acids
22 A Trial of Metformin in Individuals With Fragile X Syndrome Recruiting NCT03479476 Phase 2, Phase 3 Placebo Medication;Metformin
23 Open Label Extension to Assess the Long-Term Safety and Tolerability of ZYN002 in Children and Adolescents With FXS Recruiting NCT03802799 Phase 2, Phase 3 ZYN002 - CBD Transdermal Gel
24 Clinical Study Of caNNabidiol in childrEn and adolesCenTs With Fragile X (CONNECT-FX) Recruiting NCT03614663 Phase 2, Phase 3 ZYN002 - CBD Transdermal Gel
25 Clinical Study to Assess the Efficacy and Safety of Gene Therapy for the Treatment of Cerebral Adrenoleukodystrophy (CALD) Recruiting NCT03852498 Phase 3 Genetic
26 Trial of Dichloroacetate in Pyruvate Dehydrogenase Complex Deficiency: Recruiting NCT02616484 Phase 3 Dichloroacetate (DCA)
27 A Trial of Two Fixed Doses of ZX008 (Fenfluramine HCl) as an Adjunctive Therapy in Children and Young Adults With Dravet Syndrome Recruiting NCT02826863 Phase 3 ZX008 - 0.8 mg/kg/day;ZX008 - 0.2 mg/kg/day;Placebo
28 Evaluation of the Efficacy, Safety, and Tolerability of Sarizotan in Rett Syndrome With Respiratory Symptoms Active, not recruiting NCT02790034 Phase 2, Phase 3 Sarizotan;Placebo
29 Study of Acamprosate in Fragile x Syndrome Active, not recruiting NCT01911455 Phase 2, Phase 3 acamprosate;Placebo
30 A Study of JR-141 in Patients With Mucopolysaccharidosis II Active, not recruiting NCT03568175 Phase 2, Phase 3 JR-141
31 A Clinical Study to Evaluate the Efficacy and Safety of MIN-102 (IMP) in Male AMN Patients. Active, not recruiting NCT03231878 Phase 2, Phase 3 MIN-102;Placebos
32 A Trial of Two Fixed Doses of ZX008 (Fenfluramine HCl) in Children and Young Adults With Dravet Syndrome Active, not recruiting NCT02682927 Phase 3 ZX008 (Fenfluramine Hydrochloride);Matching Placebo
33 A Phase 2/3 Study of the Efficacy and Safety of Hematopoietic Stem Cells Transduced With Lenti-D Lentiviral Vector for the Treatment of Cerebral Adrenoleukodystrophy (CALD) Active, not recruiting NCT01896102 Phase 2, Phase 3
34 Molecular Bases of Response to Copper Treatment in Menkes Disease, Related Phenotypes, and Unexplained Copper Deficiency Active, not recruiting NCT00811785 Phase 3 Copper Histidine
35 Study of Long Term Safety and Clinical Outcomes of Idursulfase IT and Elaprase Treatment in Pediatric Participants Who Have Completed Study HGT-HIT-094 Enrolling by invitation NCT02412787 Phase 2, Phase 3 Idursulfase-IT;Elaprase
36 A Study to Assess the Usability of the Embrace Seizure Detection Watch in Children and Young Adults With Dravet Syndrome Enrolling by invitation NCT03299842 Phase 3 ZX008 (Fenfluramine Hydrochloride)
37 An Open-Label Extension Trial to Assess the Long-Term Safety of ZX008 (Fenfluramine Hydrochloride HCl) Oral Solution in Children and Young Adults With Dravet Syndrome Enrolling by invitation NCT02823145 Phase 3 ZX008 (Fenfluramine Hydrochloride)
38 Efficacy and Safety of Cannabidiol Oral Solution (GWP42003-P, CBD-OS) in Patients With Rett Syndrome Not yet recruiting NCT03848832 Phase 3 GWP42003-P;Placebo
39 Effect of Glycerol Trierucate on Clinical Course of Adrenoleukodystrophy Suspended NCT00004418 Phase 2, Phase 3 glyceryl trierucate;glyceryl trioleate
40 An Open Label Extension Study in Subjects With Fragile X Syndrome Terminated NCT01555333 Phase 3 arbaclofen
41 Long-term, Safety and Tolerability Study of AFQ056 in Adolescent Patients With Fragile X Syndrome (Open-label) Terminated NCT01433354 Phase 2, Phase 3 AFQ056
42 Safety and Tolerability of Clobazam as Adjunctive Therapy in Paediatric Patients Aged ≥1 to ≤16 Years With Dravet Syndrome Terminated NCT02187809 Phase 3 Clobazam
43 Ecopipam Treatment of Self-Injurious Behavior in Subjects With Lesch-Nyhan Disease Terminated NCT01751802 Phase 3 Ecopipam;Placebo
44 Clinical Trial of Growth Hormone in MPS I, II, and VI Terminated NCT00748969 Phase 2, Phase 3 Somatropin (DNA origin)
45 A Phase III Trial of Lorenzo's Oil in Adrenomyeloneuropathy Terminated NCT00545597 Phase 3 Lorenzo's oil
46 Cannabidiol Oral Solution as an Adjunctive Therapy for Treatment of Participants With Inadequately Controlled Dravet Syndrome Withdrawn NCT02318563 Phase 3 Cannabidiol Oral Solution;Placebo Solution
47 Clobazam as Adjunctive Therapy in Paediatric Patients Aged ≥1 to ≤16 Years With Dravet Syndrome Withdrawn NCT02174094 Phase 3 Clobazam;Placebo
48 Trial of Kuvan in Lesch-Nyhan Disease Withdrawn NCT00935753 Phase 2, Phase 3 sapropterin
49 Open Label Trial of Triheptanoin (UX007) in Treatment of Rett Syndrome. Unknown status NCT03059160 Phase 2 Tridecanoic Acid
50 A Safety Study of NNZ-2566 in Pediatric Rett Syndrome Completed NCT02715115 Phase 2 NNZ-2566;Placebo

Search NIH Clinical Center for Autism X-Linked 2

Genetic Tests for Autism X-Linked 2

Genetic tests related to Autism X-Linked 2:

# Genetic test Affiliating Genes
1 Autism, Susceptibility to, X-Linked 2 30 NLGN4X

Anatomical Context for Autism X-Linked 2

MalaCards organs/tissues related to Autism X-Linked 2:

42
Brain, Testes, Bone, Eye, Liver, Bone Marrow

Publications for Autism X-Linked 2

Articles related to Autism X-Linked 2:

# Title Authors Year
1
Identification of epigenetic signature associated with alpha thalassemia/mental retardation X-linked syndrome. ( 28293299 )
2017
2
Correction: Characterization of the Drosophila Group Ortholog to the Amino-Terminus of the Alpha-Thalassemia and Mental Retardation X-Linked (ATRX) Vertebrate Protein. ( 26863318 )
2016
3
Characterization of the Drosophila group ortholog to the amino-terminus of the alpha-thalassemia and mental retardation X-Linked (ATRX) vertebrate protein. ( 25437195 )
2014
4
Novel human pathological mutations. Gene symbol: JARID1C. Disease: mental retardation, X-linked. ( 19320021 )
2009
5
Novel human pathological mutations. Gene symbol: JARID1C. Disease: mental retardation, X-linked. ( 19320023 )
2009
6
Novel human pathological mutations. Gene symbol: JARID1C. Disease: mental retardation, X-linked. ( 19320024 )
2009
7
Lujan-Fryns syndrome (mental retardation, X-linked, marfanoid habitus). ( 16831221 )
2006
8
Alpha thalassaemia-mental retardation, X linked. ( 16722615 )
2006

Variations for Autism X-Linked 2

ClinVar genetic disease variations for Autism X-Linked 2:

6 (show all 11)
# Gene Variation Type Significance SNP ID Assembly Location
1 NLGN4X NM_181332.2(NLGN4X): c.1185dup (p.Asp396Terfs) duplication risk factor GRCh38 Chromosome X, 5903493: 5903493
2 NLGN4X NM_181332.2(NLGN4X): c.1185dup (p.Asp396Terfs) duplication risk factor GRCh37 Chromosome X, 5821534: 5821534
3 NLGN4X NM_181332.2(NLGN4X): c.1254_1255del (p.Glu418Aspfs) deletion Pathogenic,risk factor GRCh37 Chromosome X, 5821464: 5821465
4 NLGN4X NM_181332.2(NLGN4X): c.1254_1255del (p.Glu418Aspfs) deletion Pathogenic,risk factor GRCh38 Chromosome X, 5903423: 5903424
5 NLGN4X nsv513783 deletion Pathogenic,risk factor
6 NLGN4X NM_020742.3(NLGN4X): c.2259G> C (p.Arg753Ser) single nucleotide variant Uncertain significance rs886042929 GRCh37 Chromosome X, 5811050: 5811050
7 NLGN4X NM_020742.3(NLGN4X): c.2259G> C (p.Arg753Ser) single nucleotide variant Uncertain significance rs886042929 GRCh38 Chromosome X, 5893009: 5893009
8 NLGN4X NM_181332.2(NLGN4X): c.301C> T (p.Arg101Ter) single nucleotide variant Pathogenic rs756651509 GRCh37 Chromosome X, 6069207: 6069207
9 NLGN4X NM_181332.2(NLGN4X): c.301C> T (p.Arg101Ter) single nucleotide variant Pathogenic rs756651509 GRCh38 Chromosome X, 6151166: 6151166
10 NLGN4X NM_020742.3(NLGN4X): c.2428G> A (p.Gly810Arg) single nucleotide variant Uncertain significance GRCh37 Chromosome X, 5810881: 5810881
11 NLGN4X NM_020742.3(NLGN4X): c.2428G> A (p.Gly810Arg) single nucleotide variant Uncertain significance GRCh38 Chromosome X, 5892840: 5892840

Expression for Autism X-Linked 2

Search GEO for disease gene expression data for Autism X-Linked 2.

Pathways for Autism X-Linked 2

Pathways related to Autism X-Linked 2 according to KEGG:

38
# Name Kegg Source Accession
1 Regulation of actin cytoskeleton hsa04810

GO Terms for Autism X-Linked 2

Sources for Autism X-Linked 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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