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Autism

Disease ID:104
Name:Autism
Associated with:5 targets
Synonyms
Autism spectrum disorder
Database Links
Disease Ontology: DOID:0060041
OMIM: 209850
Orphanet: ORPHA106

Targets

GABAA receptor α4 subunit
Role:  Several SNPs in the GABRA4 gene (i.e. rs1912960, rs17599165, rs17599416, rs2280073 and rs16859788) associate with autism.
References:  1-2
GABAA receptor β3 subunit
Kir4.1
Role:  Gain of Function in astrocyte mediated neuronal K+ buffering
References:  4
Cav1.3
Role:  Top de novo autism spectrum disorders (ASD) risk contributing mutation. One of several ASD risk mutations.
References:  3
Mutations:  Cav1.3 is associated with 1 mutation. Click here for details
Cav3.2
Mutations:  Cav3.2 is associated with 4 mutation. Click here for details

Ligands

No ligand related data available for Autism

References

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1. Collins AL, Ma D, Whitehead PL, Martin ER, Wright HH, Abramson RK, Hussman JP, Haines JL, Cuccaro ML, Gilbert JR et al.. (2006) Investigation of autism and GABA receptor subunit genes in multiple ethnic groups. Neurogenetics, 7 (3): 167-74. [PMID:16770606]

2. Ma DQ, Whitehead PL, Menold MM, Martin ER, Ashley-Koch AE, Mei H, Ritchie MD, Delong GR, Abramson RK, Wright HH et al.. (2005) Identification of significant association and gene-gene interaction of GABA receptor subunit genes in autism. Am. J. Hum. Genet., 77 (3): 377-88. [PMID:16080114]

3. O'Roak BJ, Vives L, Girirajan S, Karakoc E, Krumm N, Coe BP, Levy R, Ko A, Lee C, Smith JD et al.. (2012) Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations. Nature, 485 (7397): 246-50. [PMID:22495309]

4. Sicca F, Imbrici P, D'Adamo MC, Moro F, Bonatti F, Brovedani P, Grottesi A, Guerrini R, Masi G, Santorelli FM et al.. (2011) Autism with seizures and intellectual disability: possible causative role of gain-of-function of the inwardly-rectifying K+ channel Kir4.1. Neurobiol. Dis., 43 (1): 239-47. [PMID:21458570]

5. Splawski I, Yoo DS, Stotz SC, Cherry A, Clapham DE, Keating MT. (2006) CACNA1H mutations in autism spectrum disorders. J. Biol. Chem., 281 (31): 22085-91. [PMID:16754686]