Evidence Detail for SLC25A12


Gene Symbol: | SLC25A12 ( AGC1,ARALAR ) |
---|---|
Gene Full Name: | solute carrier family 25 (mitochondrial carrier, Aralar), member 12 |
Band: | 2q24 |
Quick Links | Entrez ID:8604; OMIM: 603667; Uniprot ID:CMC1_HUMAN; ENSEMBL ID: ENSG00000115840 |




Click the link of the category-specific score to view different category of evidences. The categories without any evidences are hidden by default.
Evidences | Syndromic Gene | GWAS | Expression | CNV | Linkage | Low Scale Association | Other Studies | Total |
---|---|---|---|---|---|---|---|---|
Score (No. of Studies) | No | 0 (0) | 2 (2) | 0 (0) | 2 (4) | 3 (13) | 2 (4) | 27 (24) |




Family Based Association Studies: 12
Reference | Population | #SNPs/ #VNTRs | #Families | Affecteds | Result | |||||
---|---|---|---|---|---|---|---|---|---|---|
#Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Age (range) |
IQ (range) |
|||||
CAUCASIAN | ||||||||||
Ramoz, 2004_1 | AGRE | 2 (detail) | 411 | - (-) | ![]() | ![]() | ASD | - - |
- - | |
Segurado, 2005_1 | Ireland | 2 (detail) | 167 | 174 (-) | ![]() | ![]() | ASD | - - |
- - | |
Correia, 2006_1 | Portugal | 2 (detail) | 241 | - (-) | ![]() | ![]() | ASD | - - |
- - | |
Rabionet, 2006_1 | USA | 9 (detail) | 327 | - (-) | ![]() | ![]() | AD | - - |
- - | |
Blasi, 2006_1 | IMGSAC | 2 (detail) | 261 | - (-) | ![]() | ![]() | ASD | - - |
- - | |
Turunen, 2008_2 | Finland | 2 (detail) | 29 | - (-) | ![]() | ![]() | AS | - - |
- - | |
Ramoz, 2008_1 | USA, AGRE | 1 (detail) | 334 | 610 (21.64%) | ![]() | ![]() | AD | - - |
- - | |
Turunen, 2008_1 | Finland | 2 (detail) | 97 | 118 (-) | ![]() | ![]() | AD | - - |
- - | |
Palmieri, 2008_1 | Italy, AGRE | 11 (detail) | 326 | 346 (-) | ![]() | ![]() | ASD | - - |
- - | |
Silverman , 2008_1 | USA | 1 (detail) | 170 | 355 (21.74%) | ![]() | ![]() | ASD | 8±5 - |
- - | |
Carayol, 2010_1 | USA | 1 (detail) | 222 | 527 (22.22%) | ![]() | ![]() | autism | - - |
- - | |
Kim, 2011_1 | USA | 3 (detail) | 720 | 720 (13.89%) | ![]() | ![]() | ASD | 6.9±2.8 - |
- - |
Case Control Based Association Studies: 1
Reference | Population | #SNPs/ #VNTRs | ASD Cases | Normal Controls | Result | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|
#Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Age (range) |
IQ | #Subjects (% Women) |
Age (range) |
||||
ASIAN | |||||||||||
Chien, 2009_1 | China | 2 (detail) | 465 (13.55%) | ![]() | ![]() | ASD | 9.4±4.2 - |
- | 450 (49.56%) |
45.9±13.4 years(male), 46.6±11.7 years(female) - |




Reference | Orangnism | Tissue | ADI-R | ADOS | Diagnosis | Evidence Level | Result | |||
---|---|---|---|---|---|---|---|---|---|---|
Palmieri, 2008_1 | human | superior temporal gyrus (BA 41/42 or 22) | - | - | AD | RNA expression | ||||
| ||||||||||
Kim, 2011_1 | human | blood | ![]() | ![]() | ASD | genotype-phenotype interaction | ||||
| ||||||||||
Carayol, 2011_1 | human | blood | ![]() | ![]() | ASD | genetic score model | ||||
| ||||||||||
Jiao, 2011_1 | human | blood | ![]() | ![]() | ASD | SNP-based diagnose model | ||||
|


Microarray Studies: 2
Reference | Population | Tissue | #Subjects (% Women) |
ADI-R | ADOS | Endo- pheno | Diagnosis | Normal Controls (% Women) |
Fold Change | Up/ Down | P/Q value | |
---|---|---|---|---|---|---|---|---|---|---|---|---|
Voineagu, 2011_1 | Unknown | 16 frontal cortex(BA9) and 13 temporal cortex(BA41 | 16 (25.00%) | ![]() | ![]() | - | autism | 16 (6.25%) |
0.64668 | Down | - | |
| ||||||||||||
Voineagu, 2011_2 | Unknown | frontal, BA44/45 | 10 (0.00%) | ![]() | ![]() | - | autism | 6 (0.00%) |
0.66027 | Down | 0.0136741 | |
|
Proteomics Studies:0
Reference | Population | Tissue | Platform | #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Normal Controls(% Women) | |
---|---|---|---|---|---|---|---|---|---|
No Evidence. |




Linkage Name | Band | Chr | Marker | LOD | NPL | P_Value | Reference |
---|---|---|---|---|---|---|---|
AutLD0000030 | 2q31.1 | 2 | D2S2188 | 3.74 | - | - | Monaco, 2001 |
AutLD0000071 | 2q31.1 | 2 | D2S335 | 1.2 | - | - | Buxbaum, 2001 |
AutLD0000076 | 2q31.1-31.3 | 2 | D2S2314/D2S2310 | 2.54 | - | - | Lamb, 2005 |
AutLD0000127 | 2q31.1 | 2 | D2S2381 | - | - | 0.00525 | Lauritsen, 2006 |
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