رد: نعم الله والتوحد هل هو اعاقة؟ كنوز دفينة للدكتور محمود مصطفى
السلام عليكم
اسماء الجينات المتوقعة للتوحد
السلام عليكم
اسماء الجينات المتوقعة للتوحد
• [U]KCND2 gene[/U]
Official name: potassium channel, voltage gated Shal related subfamily D, member 2
Found: ...been found in a family with autism and epilepsy and may play a role...
• MT-TL1 gene summary
Official name: mitochondrially encoded tRNA leucine 1 (UUA/G)
Found related term: ...and social interaction (autistic spectrum disorders). MT-TL1 mutations...
• RPL10 gene information
Official name: ribosomal protein L10
Found: Autism, X-linked 5 (AUTSX5): A complex...
• NLGN3 gene information
Official name: neuroligin 3
Found: Autism, X-linked 1 (AUTSX1): A complex...
• NLGN4X gene information
Official name: neuroligin 4, X-linked
Found: Autism, X-linked 2 (AUTSX2): A complex...
• TMLHE gene information
Official name: trimethyllysine hydroxylase, epsilon
Found: ...increased risk for developing autistic behavior. Autism is a complex multifactorial, pervasive...
• chromosome 2 summary
Found: ...intellectual disability, autism, short stature, obesity, and characteristic...
• RELN gene summary
Official name: reelin
Found: ...may be a risk factor for autism spectrum disorders, which affect...
• BDNF gene summary
Official name: brain-derived neurotrophic factor
Found: ...a developmental disorder called autism that affects communication and...
• [U]CHD8 gene information[/U]
Official name: chromodomain helicase DNA binding protein 8
Found: Autism 18 (AUTS18): A complex multifactorial,...
• chromosome 15 summary
Found: ...(epilepsy), characteristics of autism or related developmental disorders...
• chromosome 1 summary
Found: ...disability, or features of autism spectrum disorders characterized...
• ANKRD11 gene summary
Official name: ankyrin repeat domain 11
Found: ...abnormalities and features of autism spectrum disorders, which are characterized...
• [U]AUTS2 gene information[/U]
Official name: autism susceptibility candidate 2
Found: ...disorders, including autism spectrum disorders, intellectual...
• 16p11.2 duplication condition summary
Found in name or synonym: autism, susceptibility to, 14B
• SHANK3 gene summary
Official name: SH3 and multiple ankyrin repeat domains 3
Found: ...people who have the features of autism or similar conditions known as...
• chromosome 16 summary
Found: ...including features of autism spectrum disorders; however, being...
• PTEN gene summary
Official name: phosphatase and tensin homolog
Found: ...the characteristic features of autism, a developmental disorder that...
• CEP41 gene information
Official name: centrosomal protein 41kDa
Found: ...with susceptibility to autism....
• EN2 gene information
Official name: engrailed homeobox 2
Found: ...with susceptibility to autism....
• ANK3 gene information
Official name: ankyrin 3, node of Ranvier (ankyrin G)
Found: ...in ANK3 may be associated with autism spectrum disorders susceptibility....
• SLC9A9 gene information
Official name: solute carrier family 9, subfamily A (NHE9, cation proton antiporter 9), member 9
Found: ...this gene are associated with autism susceptibility 16 and attention-deficit/hyperactivity...
• SLC25A12 gene information
Official name: solute carrier family 25 (aspartate/glutamate carrier), member 12
Found: ...gene may be associated with autism, and mutations in this gene may...
• BCKDK gene information
Official name: branched chain ketoacid dehydrogenase kinase
Found: ...disorder characterized by autism, epilepsy, intellectual disability,...
• MAGEL2 gene information
Official name: melanoma antigen family L2
Found: ...Additionally, patients manifest autism spectrum disorder. Some patients...
• HDAC4 gene information
Official name: histone deacetylase 4
Found: ...developmental delay, seizures, autism spectrum disorder, and stocky build....
• SYNGAP1 gene information
Official name: synaptic Ras GTPase activating protein 1
Found: ...impairment. Epilepsy and autism can be present in some patients....
• CNTN4 gene information
Official name: contactin 4
Found: ...in 3p deletion syndrome and autism spectrum disorders. Alternative...
• ADNP gene information
Official name: activity-dependent neuroprotector homeobox
Found: ...intellectual disability, autism spectrum disorder, and dysmorphic...
• CRADD gene information
Official name: CASP2 and RIPK1 domain containing adaptor with death domain
Found: ...is rudimentary, but articulate; autism is not present.
• RAB39B gene information
Official name: RAB39B, member RAS oncogene family
Found: ...MRX72 patients can manifest autism spectrum disorder, seizures and...
• GABRB3 gene information
Official name: gamma-aminobutyric acid (GABA) A receptor, beta 3
Found: ...orofacial clefts, epilepsy and autism. Alternatively spliced transcript...
• SETD5 gene information
Official name: SET domain containing 5
Found: ...with ritualized behavior, and autism, are prominent features.
• SYN2 gene information
Official name: synapsin II
Found: ...neuronal disorders, including autism, epilepsy, bipolar disorder and...
• CNTNAP2 gene information
Official name: contactin associated protein-like 2
Found: ...schizophrenia, epilepsy, autism, ADHD and mental retardation.[provided...
• HCN1 gene information
Official name: hyperpolarization activated cyclic nucleotide gated potassium channel 1
Found related term: ...and behavioral disturbances or autistic features in most individuals.
• PCDH19 gene information
Official name: protocadherin 19
Found related term: ...Additional features include autistic signs and psychosis. The disorder...
• HERC2 gene information
Official name: HECT and RLD domain containing E3 ubiquitin protein ligase 2
Found related term: ...development. Patients manifest autistic features, aggression, self-injury,...
• DYRK1A gene information
Official name: dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A
Found related term: ...without speech, anxious autistic behavior, and dysmorphic features,...
• UPF3B gene information
Official name: UPF3 regulator of nonsense transcripts homolog B (yeast)
Found related term: ...other variable signs such as autistic features, slender build, poor musculature,...
• UQCC2 gene information
Official name: ubiquinol-cytochrome c reductase complex assembly factor 2
Found related term: ...psychomotor development, autistic features, aggressive behavior,...
• CRBN gene information
Official name: cereblon
Found related term: ...There are no dysmorphic or autistic features.
• GRIA3 gene information
Official name: glutamate receptor, ionotropic, AMPA 3
Found related term: ...seizures, myoclonic jerks, autistic behavior, asthenic body habitus,...
• SHANK3 gene summary
Official name: SH3 and multiple ankyrin repeat domains 3
Found related term: ...or similar conditions known as autism spectrum disorders. These disorders are characterized...
• FMR1 gene summary
Official name: fragile X mental retardation 1
Found related term: ...and social interaction (such as autism spectrum disorders)....
• 15q13.3 microdeletion condition summary
Found related term: ...epilepsy, schizophrenia, or autism spectrum disorders....
• chromosome 16 summary
Found related term: ...including features of autism spectrum disorders; however, being underweight is...
• Schindler disease condition summary
Found related term: ...with some features of autism spectrum disorders. Autism spectrum disorders are...
• 22q13.3 deletion syndrome condition summary
Related term: autism spectrum disorder
• MECP2 gene summary
Official name: methyl CpG binding protein 2
Found related term in link title: Autism Spectrum Disorders
• RPL10 gene information
Official name: ribosomal protein L10
Found related term: ...variation in this gene and autism spectrum disorders, though others do not detect this...
• ANKRD11 gene summary
Official name: ankyrin repeat domain 11
Found related term: ...abnormalities and features of autism spectrum disorders, which are characterized by impaired...
• 16p11.2 duplication condition summary
Found related term: ...can also have features of autism spectrum disorders, including impaired communication...
• 1q21.1 microduplication condition summary
Found related term: ...can also have features of autism spectrum disorders. These disorders are characterized...
• 1q21.1 microdeletion condition summary
Found related term: ...developmental conditions called autism spectrum disorders that affect communication and social...
• 22q11.2 deletion syndrome condition summary
Found related term: ...conditions such as autism spectrum disorders that affect communication and social...
• SHROOM4 gene information
Official name: shroom family member 4
Found: ...PDZ domain and a C-terminal ASD2 motif. The encoded protein may...
• ANK3 gene information
Official name: ankyrin 3, node of Ranvier (ankyrin G)
Found related term: ...in ANK3 may be associated with autism spectrum disorders susceptibility....
• AUTS2 gene information
Official name: autism susceptibility candidate 2
Found related term: ...disorders, including autism spectrum disorders, intellectual disability, and developmental...
• MAGEL2 gene information
Official name: melanoma antigen family L2
Found related term: ...Additionally, patients manifest autism spectrum disorder. Some patients have dysmorphic...
• HDAC4 gene information
Official name: histone deacetylase 4
Found related term: ...developmental delay, seizures, autism spectrum disorder, and stocky build. Soft tissue...
• CNTN4 gene information
Official name: contactin 4
Found related term: ...in 3p deletion syndrome and autism spectrum disorders. Alternative splicing results in...
• ADNP gene information
Official name: activity-dependent neuroprotector homeobox
Found related term: ...intellectual disability, autism spectrum disorder, and dysmorphic facial features...
• RAB39B gene information
Official name: RAB39B, member RAS oncogene family
Found related term: ...MRX72 patients can manifest autism spectrum disorder, seizures and macrocephaly as additional...
• SLC35A3 gene information
Official name: solute carrier family 35 (UDP-N-acetylglucosamine (UDP-GlcNAc) transporter), member A3
Found related term: ...mental retardation, autism spectrum disorder, and epilepsy. Additional features...
• DEPDC5 gene information
Official name: DEP domain containing 5
Found related term: ...have intellectual disability or autism spectrum disorders. Seizure onset usually occurs in...
• SHANK2 gene information
Official name: SH3 and multiple ankyrin repeat domains 2
Found related term: ...with susceptibility to autism spectrum disorder. Alternative splicing results in...
Official name: potassium channel, voltage gated Shal related subfamily D, member 2
Found: ...been found in a family with autism and epilepsy and may play a role...
• MT-TL1 gene summary
Official name: mitochondrially encoded tRNA leucine 1 (UUA/G)
Found related term: ...and social interaction (autistic spectrum disorders). MT-TL1 mutations...
• RPL10 gene information
Official name: ribosomal protein L10
Found: Autism, X-linked 5 (AUTSX5): A complex...
• NLGN3 gene information
Official name: neuroligin 3
Found: Autism, X-linked 1 (AUTSX1): A complex...
• NLGN4X gene information
Official name: neuroligin 4, X-linked
Found: Autism, X-linked 2 (AUTSX2): A complex...
• TMLHE gene information
Official name: trimethyllysine hydroxylase, epsilon
Found: ...increased risk for developing autistic behavior. Autism is a complex multifactorial, pervasive...
• chromosome 2 summary
Found: ...intellectual disability, autism, short stature, obesity, and characteristic...
• RELN gene summary
Official name: reelin
Found: ...may be a risk factor for autism spectrum disorders, which affect...
• BDNF gene summary
Official name: brain-derived neurotrophic factor
Found: ...a developmental disorder called autism that affects communication and...
• [U]CHD8 gene information[/U]
Official name: chromodomain helicase DNA binding protein 8
Found: Autism 18 (AUTS18): A complex multifactorial,...
• chromosome 15 summary
Found: ...(epilepsy), characteristics of autism or related developmental disorders...
• chromosome 1 summary
Found: ...disability, or features of autism spectrum disorders characterized...
• ANKRD11 gene summary
Official name: ankyrin repeat domain 11
Found: ...abnormalities and features of autism spectrum disorders, which are characterized...
• [U]AUTS2 gene information[/U]
Official name: autism susceptibility candidate 2
Found: ...disorders, including autism spectrum disorders, intellectual...
• 16p11.2 duplication condition summary
Found in name or synonym: autism, susceptibility to, 14B
• SHANK3 gene summary
Official name: SH3 and multiple ankyrin repeat domains 3
Found: ...people who have the features of autism or similar conditions known as...
• chromosome 16 summary
Found: ...including features of autism spectrum disorders; however, being...
• PTEN gene summary
Official name: phosphatase and tensin homolog
Found: ...the characteristic features of autism, a developmental disorder that...
• CEP41 gene information
Official name: centrosomal protein 41kDa
Found: ...with susceptibility to autism....
• EN2 gene information
Official name: engrailed homeobox 2
Found: ...with susceptibility to autism....
• ANK3 gene information
Official name: ankyrin 3, node of Ranvier (ankyrin G)
Found: ...in ANK3 may be associated with autism spectrum disorders susceptibility....
• SLC9A9 gene information
Official name: solute carrier family 9, subfamily A (NHE9, cation proton antiporter 9), member 9
Found: ...this gene are associated with autism susceptibility 16 and attention-deficit/hyperactivity...
• SLC25A12 gene information
Official name: solute carrier family 25 (aspartate/glutamate carrier), member 12
Found: ...gene may be associated with autism, and mutations in this gene may...
• BCKDK gene information
Official name: branched chain ketoacid dehydrogenase kinase
Found: ...disorder characterized by autism, epilepsy, intellectual disability,...
• MAGEL2 gene information
Official name: melanoma antigen family L2
Found: ...Additionally, patients manifest autism spectrum disorder. Some patients...
• HDAC4 gene information
Official name: histone deacetylase 4
Found: ...developmental delay, seizures, autism spectrum disorder, and stocky build....
• SYNGAP1 gene information
Official name: synaptic Ras GTPase activating protein 1
Found: ...impairment. Epilepsy and autism can be present in some patients....
• CNTN4 gene information
Official name: contactin 4
Found: ...in 3p deletion syndrome and autism spectrum disorders. Alternative...
• ADNP gene information
Official name: activity-dependent neuroprotector homeobox
Found: ...intellectual disability, autism spectrum disorder, and dysmorphic...
• CRADD gene information
Official name: CASP2 and RIPK1 domain containing adaptor with death domain
Found: ...is rudimentary, but articulate; autism is not present.
• RAB39B gene information
Official name: RAB39B, member RAS oncogene family
Found: ...MRX72 patients can manifest autism spectrum disorder, seizures and...
• GABRB3 gene information
Official name: gamma-aminobutyric acid (GABA) A receptor, beta 3
Found: ...orofacial clefts, epilepsy and autism. Alternatively spliced transcript...
• SETD5 gene information
Official name: SET domain containing 5
Found: ...with ritualized behavior, and autism, are prominent features.
• SYN2 gene information
Official name: synapsin II
Found: ...neuronal disorders, including autism, epilepsy, bipolar disorder and...
• CNTNAP2 gene information
Official name: contactin associated protein-like 2
Found: ...schizophrenia, epilepsy, autism, ADHD and mental retardation.[provided...
• HCN1 gene information
Official name: hyperpolarization activated cyclic nucleotide gated potassium channel 1
Found related term: ...and behavioral disturbances or autistic features in most individuals.
• PCDH19 gene information
Official name: protocadherin 19
Found related term: ...Additional features include autistic signs and psychosis. The disorder...
• HERC2 gene information
Official name: HECT and RLD domain containing E3 ubiquitin protein ligase 2
Found related term: ...development. Patients manifest autistic features, aggression, self-injury,...
• DYRK1A gene information
Official name: dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A
Found related term: ...without speech, anxious autistic behavior, and dysmorphic features,...
• UPF3B gene information
Official name: UPF3 regulator of nonsense transcripts homolog B (yeast)
Found related term: ...other variable signs such as autistic features, slender build, poor musculature,...
• UQCC2 gene information
Official name: ubiquinol-cytochrome c reductase complex assembly factor 2
Found related term: ...psychomotor development, autistic features, aggressive behavior,...
• CRBN gene information
Official name: cereblon
Found related term: ...There are no dysmorphic or autistic features.
• GRIA3 gene information
Official name: glutamate receptor, ionotropic, AMPA 3
Found related term: ...seizures, myoclonic jerks, autistic behavior, asthenic body habitus,...
• SHANK3 gene summary
Official name: SH3 and multiple ankyrin repeat domains 3
Found related term: ...or similar conditions known as autism spectrum disorders. These disorders are characterized...
• FMR1 gene summary
Official name: fragile X mental retardation 1
Found related term: ...and social interaction (such as autism spectrum disorders)....
• 15q13.3 microdeletion condition summary
Found related term: ...epilepsy, schizophrenia, or autism spectrum disorders....
• chromosome 16 summary
Found related term: ...including features of autism spectrum disorders; however, being underweight is...
• Schindler disease condition summary
Found related term: ...with some features of autism spectrum disorders. Autism spectrum disorders are...
• 22q13.3 deletion syndrome condition summary
Related term: autism spectrum disorder
• MECP2 gene summary
Official name: methyl CpG binding protein 2
Found related term in link title: Autism Spectrum Disorders
• RPL10 gene information
Official name: ribosomal protein L10
Found related term: ...variation in this gene and autism spectrum disorders, though others do not detect this...
• ANKRD11 gene summary
Official name: ankyrin repeat domain 11
Found related term: ...abnormalities and features of autism spectrum disorders, which are characterized by impaired...
• 16p11.2 duplication condition summary
Found related term: ...can also have features of autism spectrum disorders, including impaired communication...
• 1q21.1 microduplication condition summary
Found related term: ...can also have features of autism spectrum disorders. These disorders are characterized...
• 1q21.1 microdeletion condition summary
Found related term: ...developmental conditions called autism spectrum disorders that affect communication and social...
• 22q11.2 deletion syndrome condition summary
Found related term: ...conditions such as autism spectrum disorders that affect communication and social...
• SHROOM4 gene information
Official name: shroom family member 4
Found: ...PDZ domain and a C-terminal ASD2 motif. The encoded protein may...
• ANK3 gene information
Official name: ankyrin 3, node of Ranvier (ankyrin G)
Found related term: ...in ANK3 may be associated with autism spectrum disorders susceptibility....
• AUTS2 gene information
Official name: autism susceptibility candidate 2
Found related term: ...disorders, including autism spectrum disorders, intellectual disability, and developmental...
• MAGEL2 gene information
Official name: melanoma antigen family L2
Found related term: ...Additionally, patients manifest autism spectrum disorder. Some patients have dysmorphic...
• HDAC4 gene information
Official name: histone deacetylase 4
Found related term: ...developmental delay, seizures, autism spectrum disorder, and stocky build. Soft tissue...
• CNTN4 gene information
Official name: contactin 4
Found related term: ...in 3p deletion syndrome and autism spectrum disorders. Alternative splicing results in...
• ADNP gene information
Official name: activity-dependent neuroprotector homeobox
Found related term: ...intellectual disability, autism spectrum disorder, and dysmorphic facial features...
• RAB39B gene information
Official name: RAB39B, member RAS oncogene family
Found related term: ...MRX72 patients can manifest autism spectrum disorder, seizures and macrocephaly as additional...
• SLC35A3 gene information
Official name: solute carrier family 35 (UDP-N-acetylglucosamine (UDP-GlcNAc) transporter), member A3
Found related term: ...mental retardation, autism spectrum disorder, and epilepsy. Additional features...
• DEPDC5 gene information
Official name: DEP domain containing 5
Found related term: ...have intellectual disability or autism spectrum disorders. Seizure onset usually occurs in...
• SHANK2 gene information
Official name: SH3 and multiple ankyrin repeat domains 2
Found related term: ...with susceptibility to autism spectrum disorder. Alternative splicing results in...
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