SLC1A1, solute carrier family 1 member 1, 6505

N. diseases: 53; N. variants: 4
Source: CURATED ×
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1857253
Disease: Dicarboxylicaminoaciduria
Dicarboxylicaminoaciduria 		0.910 GermlineCausalMutation disease ORPHANET Here we report that SLC1A1 mutations leading to substitution of arginine to tryptophan at position 445 (R445W) and deletion of isoleucine at position 395 (I395del) cause human dicarboxylic aminoaciduria, an autosomal recessive disorder of urinary glutamate and aspartate transport that can be associated with mental retardation. 21123949 2011
CUI: C1857253
Disease: Dicarboxylicaminoaciduria
Dicarboxylicaminoaciduria 		0.910 Biomarker disease CLINGEN Here we report that SLC1A1 mutations leading to substitution of arginine to tryptophan at position 445 (R445W) and deletion of isoleucine at position 395 (I395del) cause human dicarboxylic aminoaciduria, an autosomal recessive disorder of urinary glutamate and aspartate transport that can be associated with mental retardation. 21123949 2011
CUI: C1857253
Disease: Dicarboxylicaminoaciduria
Dicarboxylicaminoaciduria 		0.910 GeneticVariation disease UNIPROT Here we report that SLC1A1 mutations leading to substitution of arginine to tryptophan at position 445 (R445W) and deletion of isoleucine at position 395 (I395del) cause human dicarboxylic aminoaciduria, an autosomal recessive disorder of urinary glutamate and aspartate transport that can be associated with mental retardation. 21123949 2011
CUI: C1857253
Disease: Dicarboxylicaminoaciduria
Dicarboxylicaminoaciduria 		0.910 Biomarker disease CLINGEN To investigate the specific physiological and pathophysiological role of the neuronal EAAC-1, which is also expressed in kidney and small intestine, we have generated two independent mouse lines lacking EAAC-1. eaac-1(-/-) mice develop dicarboxylic aminoaciduria. 9233792 1997
CUI: C1857253
Disease: Dicarboxylicaminoaciduria
Dicarboxylicaminoaciduria 		0.910 Biomarker disease CLINGEN Primary structure and functional characterization of a high-affinity glutamate transporter. 1280334 1992
CUI: C1857253
Disease: Dicarboxylicaminoaciduria
Dicarboxylicaminoaciduria 		0.910 Biomarker disease CTD_human
CUI: C0152136
Disease: Low Tension Glaucoma
Low Tension Glaucoma 		0.530 Biomarker disease CTD_human Edaravone suppresses retinal ganglion cell death in a mouse model of normal tension glaucoma. 28703795 2017
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.500 Biomarker disease CTD_human
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.350 Biomarker disease CTD_human EAAC1 may participate in normal GABA neurosynthesis and limbic hyperexcitability, whereas epilepsy can result from a disruption of the interaction between EAAC1 and GABA metabolism. 12151515 2002
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		0.320 Biomarker disease CTD_human We document biallelic disruption of known or emerging recessive neurodevelopmental genes (CA2, DDHD1, NSUN2, PAH, RARB, ROGDI, SLC1A1, USH2A) as well as other genes not previously implicated in ASD including FEV (FEV transcription factor, ETS family member), which encodes a key regulator of the serotonergic circuitry. 31209396 2019
CUI: C0036572
Disease: Seizures
Seizures 		0.320 Biomarker phenotype CTD_human Especially, dysfunction of excitatory amino acid transporter type 3 (EAAT3) can lead to seizures. 23262392 2013
CUI: C0014556
Disease: Epilepsy, Temporal Lobe
Epilepsy, Temporal Lobe 		0.310 Biomarker disease CTD_human Immunolabeling demonstrated that EAAT3/EAAC1 protein expression was enhanced in dentate granule cells from both rats and humans with TLE as well as in dysplastic neurons from human cortical dysplasia tissue. 11906504 2002
CUI: C0431380
Disease: Cortical Dysplasia
Cortical Dysplasia 		0.310 Biomarker disease CTD_human Immunolabeling demonstrated that EAAT3/EAAC1 protein expression was enhanced in dentate granule cells from both rats and humans with TLE as well as in dysplastic neurons from human cortical dysplasia tissue. 11906504 2002
CUI: C0027746
Disease: Nerve Degeneration
Nerve Degeneration 		0.300 Biomarker phenotype CTD_human Edaravone suppresses retinal ganglion cell death in a mouse model of normal tension glaucoma. 28703795 2017
CUI: C0035304
Disease: Retinal Degeneration
Retinal Degeneration 		0.300 Biomarker phenotype CTD_human Edaravone suppresses retinal ganglion cell death in a mouse model of normal tension glaucoma. 28703795 2017
CUI: C0393729
Disease: Immersion Related Epilepsy
Immersion Related Epilepsy 		0.300 GermlineCausalMutation disease ORPHANET Rare SLC1A1 variants in hot water epilepsy. 28324217 2017
CUI: C4551550
Disease: EPILEPSY, HOT WATER, 1
EPILEPSY, HOT WATER, 1 		0.300 GermlineCausalMutation disease ORPHANET Rare SLC1A1 variants in hot water epilepsy. 28324217 2017
CUI: C0022333
Disease: Jacksonian Seizure
Jacksonian Seizure 		0.300 Biomarker disease CTD_human Caffeine-induced inhibition of the activity of glutamate transporter type 3 expressed in Xenopus oocytes. 23262392 2013
CUI: C0149958
Disease: Complex partial seizures
Complex partial seizures 		0.300 Biomarker disease CTD_human Caffeine-induced inhibition of the activity of glutamate transporter type 3 expressed in Xenopus oocytes. 23262392 2013
CUI: C0234533
Disease: Generalized seizures
Generalized seizures 		0.300 Biomarker disease CTD_human Caffeine-induced inhibition of the activity of glutamate transporter type 3 expressed in Xenopus oocytes. 23262392 2013
CUI: C0234535
Disease: Clonic Seizures
Clonic Seizures 		0.300 Biomarker disease CTD_human Caffeine-induced inhibition of the activity of glutamate transporter type 3 expressed in Xenopus oocytes. 23262392 2013
CUI: C0270824
Disease: Visual seizure
Visual seizure 		0.300 Biomarker disease CTD_human Caffeine-induced inhibition of the activity of glutamate transporter type 3 expressed in Xenopus oocytes. 23262392 2013
CUI: C0270844
Disease: Tonic Seizures
Tonic Seizures 		0.300 Biomarker phenotype CTD_human Caffeine-induced inhibition of the activity of glutamate transporter type 3 expressed in Xenopus oocytes. 23262392 2013
CUI: C0270846
Disease: Epileptic drop attack
Epileptic drop attack 		0.300 Biomarker disease CTD_human Caffeine-induced inhibition of the activity of glutamate transporter type 3 expressed in Xenopus oocytes. 23262392 2013
CUI: C0422850
Disease: Seizures, Somatosensory
Seizures, Somatosensory 		0.300 Biomarker phenotype CTD_human Caffeine-induced inhibition of the activity of glutamate transporter type 3 expressed in Xenopus oocytes. 23262392 2013