Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2751855
Disease: Hypomyelination, Global Cerebral
Hypomyelination, Global Cerebral 		0.940 Biomarker disease BEFREE These data clearly show that AGC1 impairment alters myelination not only by acting on N-acetyl-aspartate production in neurons but also on OPC proliferation and suggest new potential therapeutic targets for the treatment of AGC1 deficiency. 31514314 2019
CUI: C2751855
Disease: Hypomyelination, Global Cerebral
Hypomyelination, Global Cerebral 		0.940 Biomarker disease GENOMICS_ENGLAND Longitudinal MRI findings in patient with SLC25A12 pathogenic variants inform disease progression and classification. 31403263 2019
CUI: C2751855
Disease: Hypomyelination, Global Cerebral
Hypomyelination, Global Cerebral 		0.940 Biomarker disease BEFREE ARALAR/AGC1 deficiency, a neurodevelopmental disorder with severe impairment of neuronal mitochondrial respiration, does not produce a primary increase in brain lactate. 28429368 2017
CUI: C2751855
Disease: Hypomyelination, Global Cerebral
Hypomyelination, Global Cerebral 		0.940 AlteredExpression disease BEFREE Our data suggest that the cellular energetic deficit due to AGC1 impairment is associated with inappropriate aspartate levels to support neuronal proliferation when glutamine is not used as metabolic substrate, and we propose that delayed myelination in AGC1 deficiency patients could be attributable, at least in part, to neuronal loss combined with lack of NAA synthesis occurring during the nervous system development. 28235644 2017
CUI: C2751855
Disease: Hypomyelination, Global Cerebral
Hypomyelination, Global Cerebral 		0.940 Biomarker disease BEFREE The mitochondrial aspartate/glutamate transporter Aralar/AGC1/Slc25a12 is critically involved in brain aspartate synthesis, and AGC1 deficiency results in a drastic fall of brain aspartate levels in humans and mice. 27401256 2017
CUI: C2751855
Disease: Hypomyelination, Global Cerebral
Hypomyelination, Global Cerebral 		0.940 Biomarker disease MGD ARALAR/AGC1 deficiency, a neurodevelopmental disorder with severe impairment of neuronal mitochondrial respiration, does not produce a primary increase in brain lactate. 28429368 2017
CUI: C2751855
Disease: Hypomyelination, Global Cerebral
Hypomyelination, Global Cerebral 		0.940 Biomarker disease GENOMICS_ENGLAND Clinical application of whole-exome sequencing across clinical indications. 26633542 2016
CUI: C2751855
Disease: Hypomyelination, Global Cerebral
Hypomyelination, Global Cerebral 		0.940 Biomarker disease GENOMICS_ENGLAND New perspective in diagnostics of mitochondrial disorders: two years' experience with whole-exome sequencing at a national paediatric centre. 27290639 2016
CUI: C2751855
Disease: Hypomyelination, Global Cerebral
Hypomyelination, Global Cerebral 		0.940 GeneticVariation disease UNIPROT AGC1 Deficiency Causes Infantile Epilepsy, Abnormal Myelination, and Reduced N-Acetylaspartate. 24515575 2014
CUI: C2751855
Disease: Hypomyelination, Global Cerebral
Hypomyelination, Global Cerebral 		0.940 Biomarker disease GENOMICS_ENGLAND AGC1 Deficiency Causes Infantile Epilepsy, Abnormal Myelination, and Reduced N-Acetylaspartate. 24515575 2014
CUI: C2751855
Disease: Hypomyelination, Global Cerebral
Hypomyelination, Global Cerebral 		0.940 Biomarker disease MGD AGC1-malate aspartate shuttle activity is critical for dopamine handling in the nigrostriatal pathway. 23216354 2013
CUI: C2751855
Disease: Hypomyelination, Global Cerebral
Hypomyelination, Global Cerebral 		0.940 GeneticVariation disease UNIPROT We describe AGC1 deficiency, a novel syndrome characterized by arrested psychomotor development, hypotonia, and seizures in a child with a homozygous missense mutation in the solute carrier family 25, member 12, gene SLC25A12, which encodes the AGC1 protein. 19641205 2009
CUI: C2751855
Disease: Hypomyelination, Global Cerebral
Hypomyelination, Global Cerebral 		0.940 GermlineCausalMutation disease ORPHANET We describe AGC1 deficiency, a novel syndrome characterized by arrested psychomotor development, hypotonia, and seizures in a child with a homozygous missense mutation in the solute carrier family 25, member 12, gene SLC25A12, which encodes the AGC1 protein. 19641205 2009
CUI: C2751855
Disease: Hypomyelination, Global Cerebral
Hypomyelination, Global Cerebral 		0.940 Biomarker disease MGD Reduced N-acetylaspartate levels in mice lacking aralar, a brain- and muscle-type mitochondrial aspartate-glutamate carrier. 15987682 2005
CUI: C2751855
Disease: Hypomyelination, Global Cerebral
Hypomyelination, Global Cerebral 		0.940 Biomarker disease CTD_human
CUI: C2751855
Disease: Hypomyelination, Global Cerebral
Hypomyelination, Global Cerebral 		0.940 CausalMutation disease CLINVAR
CUI: C2751855
Disease: Hypomyelination, Global Cerebral
Hypomyelination, Global Cerebral 		0.940 GeneticVariation disease CLINVAR
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.410 GeneticVariation disease GWASCAT Pleiotropic Meta-Analysis of Cognition, Education, and Schizophrenia Differentiates Roles of Early Neurodevelopmental and Adult Synaptic Pathways. 31374203 2019
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.410 GeneticVariation disease BEFREE Further studies with SLC25A12 variants relating to brain NAA levels in patients with schizophrenia are suggested. 17693006 2007
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.400 Biomarker disease GENOMICS_ENGLAND Clinical application of whole-exome sequencing across clinical indications. 26633542 2016
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.400 Biomarker disease BEFREE Here, we review the physiological roles of AGC1, its links to calcium homeostasis, and its involvement in autism pathogenesis. 21691713 2011
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.400 Biomarker disease BEFREE Our data do not support that the SLC25A12 gene is associated with autism in our population. 19913066 2010
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.400 GeneticVariation disease BEFREE Association between autism and single-nucleotide polymorphisms in SLC25A12 has been reported in various studies. 18180767 2008
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.400 Biomarker disease CTD_human An analysis of candidate autism loci on chromosome 2q24-q33: evidence for association to the STK39 gene. 18348195 2008
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.400 GeneticVariation disease BEFREE This study shows further support that genetic variants within SLC25A12 gene contribute to the etiology of autism. 19360665 2008