ENSG00000146938
Homo sapiens | |
Features
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed
Ortholog prediction (from Ensembl)
Paralog prediction (from Ensembl)
Protein motifs (from Interpro)
Gene Ontology (GO)
Pathways (from Reactome)
Phenotype (from MGI, Zfin or HPO)
| HP:0000717 | Autism | |
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| | HP:0000721 | Lack of spontaneous play | |
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| | HP:0000723 | Restrictive behaviour, interests, and activities | |
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| | HP:0000732 | Inflexible adherence to routines or rituals | |
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| | HP:0000733 | Stereotyped, repetitive behaviour | |
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| | HP:0000750 | Impaired language development | |
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| | HP:0000758 | Impaired use of nonverbal behaviors, such as eye-to-eye gaze, facial expression, body posture, and gestures | |
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| | HP:0001249 | Mental retardation | |
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| | HP:0001250 | Seizures | "Seizures are an intermittent `abnormality of the central nervous system` (FMA:HP:0002011) due to a sudden, excessive, disorderly discharge of cerebral neurons and characterized clinically by some combination of disturbance of sensation, loss of consciousness, impairment of psychic function, or convulsive movements." [HPO:probinson] |
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| | HP:0001417 | X-linked inheritance | "A mode of inheritance that is observed for traits related to a gene encoded on the X chromosome." [HPO:curators] |
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| | HP:0001425 | Heterogeneous | |
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| | HP:0001426 | Multifactorial | |
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| | HP:0002332 | Lack of peer relationships | |
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| | HP:0002353 | EEG abnormalities | "Abnormality observed by electroencephalogram (EEG), which is used to record of the brain s spontaneous electrical activity from multiple electrodes placed on the scalp." [HPO:curators] |
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| | HP:0003144 | Increased serum serotonin in 25% | |
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| | HP:0003745 | Sporadic | |
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| | HP:0011463 | Childhood onset | "Onset of disease at the age of between 1 and 5 years." [DDD:hfirth] |
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Interacting proteins (from Reactome)
1 s.
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