G2Cdb::Human Disease Report


Disease id D00000177
Name Autism
Nervous system disease Yes
Genes
G00001796 (MAP2) microtubule-associated pr
G00001434 (RAF1) v-raf-1 murine leukemia v
G00000031 (HRAS) v-Ha-ras Harvey rat sarco
G00001468 (RAB3A) RAB3A, member RAS oncogen
G00001312 (GRIK2) glutamate receptor, ionot
Literature
(9 items)
human disease
Chromosome 2 deletion encompassing the MAP2 gene in a patient with autism and Rett-like features.
Pescucci C, Meloni I, Bruttini M, Ariani F, Longo I, Mari F, Canitano R, Hayek G, Zappella M, Renieri A
Clin Genet. 2003;64;497-501. PMID: 14986829

Confirmation of association between autism and the mitochondrial aspartate/glutamate carrier SLC25A12 gene on chromosome 2q31.
Segurado R, Conroy J, Meally E, Fitzgerald M, Gill M, Gallagher L
Am J Psychiatry. 2005;162;2182-4. PMID: 16263864 DOI: 10.1176/appi.ajp.162.11.2182

SLC25A12 and CMYA3 gene variants are not associated with autism in the IMGSAC multiplex family sample.
Blasi F, Bacchelli E, Carone S, Toma C, Monaco AP, Bailey AJ, Maestrini E, International Molecular Genetic Study of Autism Consortium (IMGSAC)
Eur J Hum Genet. 2006;14;123-6. PMID: 16205742 DOI: 10.1038/sj.ejhg.5201444

Studies of the c-Harvey-Ras gene in psychiatric disorders.
Comings DE, Wu S, Chiu C, Muhleman D, Sverd J
Psychiatry Res. 1996;63;25-32. PMID: 8832771

Family-based association study between autism and glutamate receptor 6 gene in Chinese Han trios.
Shuang M, Liu J, Jia MX, Yang JZ, Wu SP, Gong XH, Ling YS, Ruan Y, Yang XL, Zhang D
Am J Med Genet B Neuropsychiatr Genet. 2004;131;48-50. PMID: 15389769 DOI: 10.1002/ajmg.b.30025

Linkage and association of the glutamate receptor 6 gene with autism.
Jamain S, Betancur C, Quach H, Philippe A, Fellous M, Giros B, Gillberg C, Leboyer M, Bourgeron T, Paris Autism Research International Sibpair (PARIS) Study
Mol Psychiatry. 2002;7;302-10. PMID: 11920157 DOI: 10.1038/sj.mp.4000979

DNA variants in the human RAB3A gene are not associated with autism.
D'Adamo P, Bacchelli E, Blasi F, Lipp HP, Toniolo D, Maestrini E
Genes Brain Behav. 2004;3;123-4. PMID: 15005721

Linkage and association of the mitochondrial aspartate/glutamate carrier SLC25A12 gene with autism.
Ramoz N, Reichert JG, Smith CJ, Silverman JM, Bespalova IN, Davis KL, Buxbaum JD
Am J Psychiatry. 2004;161;662-9. PMID: 15056512

Lack of association between autism and SLC25A12.
Rabionet R, McCauley JL, Jaworski JM, Ashley-Koch AE, Martin ER, Sutcliffe JS, Haines JL, DeLong GR, Abramson RK, Wright HH, Cuccaro ML, Gilbert JR, Pericak-Vance MA
Am J Psychiatry. 2006;163;929-31. PMID: 16648338 DOI: 10.1176/appi.ajp.163.5.929