ABAT, 4-aminobutyrate aminotransferase, 18

N. diseases: 72; N. variants: 20
Source: CURATED ×
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121434578
rs121434578
Entrez Id: 18
Gene Symbol: ABAT
ABAT
CUI: C0342708
Disease:
Gamma aminobutyric acid transaminase deficiency 		0.800 GeneticVariation UNIPROT Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions. 23519317 2013
dbSNP: rs121434578
rs121434578
Entrez Id: 18
Gene Symbol: ABAT
ABAT
CUI: C0342708
Disease:
Gamma aminobutyric acid transaminase deficiency 		A 0.800 CausalMutation CLINVAR A new case of GABA transaminase deficiency facilitated by proton MR spectroscopy. 20052547 2010
dbSNP: rs121434578
rs121434578
Entrez Id: 18
Gene Symbol: ABAT
ABAT
CUI: C0342708
Disease:
Gamma aminobutyric acid transaminase deficiency 		0.800 GeneticVariation UNIPROT 4-Aminobutyrate aminotransferase (GABA-transaminase) deficiency. 10407778 1999
dbSNP: rs1057523345
rs1057523345
Entrez Id: 18;25880
Gene Symbol: ABAT;TMEM186
ABAT;TMEM186
CUI: C0342708
Disease:
Gamma aminobutyric acid transaminase deficiency 		A 0.700 CausalMutation CLINVAR 2-Pyrrolidinone and Succinimide as Clinical Screening Biomarkers for GABA-Transaminase Deficiency: Anti-seizure Medications Impact Accurate Diagnosis. 31133775 2019
dbSNP: rs1567300736
rs1567300736
Entrez Id: 18
Gene Symbol: ABAT
ABAT
CUI: C0342708
Disease:
Gamma aminobutyric acid transaminase deficiency 		A 0.700 CausalMutation CLINVAR 2-Pyrrolidinone and Succinimide as Clinical Screening Biomarkers for GABA-Transaminase Deficiency: Anti-seizure Medications Impact Accurate Diagnosis. 31133775 2019
dbSNP: rs1567310537
rs1567310537
Entrez Id: 18
Gene Symbol: ABAT
ABAT
CUI: C0342708
Disease:
Gamma aminobutyric acid transaminase deficiency 		T 0.700 CausalMutation CLINVAR 2-Pyrrolidinone and Succinimide as Clinical Screening Biomarkers for GABA-Transaminase Deficiency: Anti-seizure Medications Impact Accurate Diagnosis. 31133775 2019
dbSNP: rs1567312671
rs1567312671
Entrez Id: 18
Gene Symbol: ABAT
ABAT
CUI: C0342708
Disease:
Gamma aminobutyric acid transaminase deficiency 		G 0.700 CausalMutation CLINVAR 2-Pyrrolidinone and Succinimide as Clinical Screening Biomarkers for GABA-Transaminase Deficiency: Anti-seizure Medications Impact Accurate Diagnosis. 31133775 2019
dbSNP: rs724159990
rs724159990
Entrez Id: 18
Gene Symbol: ABAT
ABAT
CUI: C0342708
Disease:
Gamma aminobutyric acid transaminase deficiency 		T 0.700 CausalMutation CLINVAR 2-Pyrrolidinone and Succinimide as Clinical Screening Biomarkers for GABA-Transaminase Deficiency: Anti-seizure Medications Impact Accurate Diagnosis. 31133775 2019
dbSNP: rs781555217
rs781555217
Entrez Id: 18;25880
Gene Symbol: ABAT;TMEM186
ABAT;TMEM186
CUI: C0342708
Disease:
Gamma aminobutyric acid transaminase deficiency 		C 0.700 CausalMutation CLINVAR 2-Pyrrolidinone and Succinimide as Clinical Screening Biomarkers for GABA-Transaminase Deficiency: Anti-seizure Medications Impact Accurate Diagnosis. 31133775 2019
dbSNP: rs1641025
rs1641025
Entrez Id: 18
Gene Symbol: ABAT
ABAT
CUI: C0006826
Disease:
Malignant Neoplasms 		T 0.700 GeneticVariation GWASCAT Gamma-aminobutyric acid transaminase genetic polymorphism is a candidate locus for responsiveness to opioid analgesics in patients with cancer pain: An exploratory study. 30277654 2018
dbSNP: rs1567310537
rs1567310537
Entrez Id: 18
Gene Symbol: ABAT
ABAT
CUI: C0342708
Disease:
Gamma aminobutyric acid transaminase deficiency 		T 0.700 CausalMutation CLINVAR Personalized medicine approach confirms a milder case of ABAT deficiency. 27903293 2016
dbSNP: rs781555217
rs781555217
Entrez Id: 18;25880
Gene Symbol: ABAT;TMEM186
ABAT;TMEM186
CUI: C0342708
Disease:
Gamma aminobutyric acid transaminase deficiency 		C 0.700 CausalMutation CLINVAR Personalized medicine approach confirms a milder case of ABAT deficiency. 27903293 2016
dbSNP: rs724159990
rs724159990
Entrez Id: 18
Gene Symbol: ABAT
ABAT
CUI: C0342708
Disease:
Gamma aminobutyric acid transaminase deficiency 		T 0.700 CausalMutation CLINVAR The GABA transaminase, ABAT, is essential for mitochondrial nucleoside metabolism. 25738457 2015
dbSNP: rs1273385
rs1273385
Entrez Id: 18
Gene Symbol: ABAT
ABAT
CUI: C0523465
Disease:
Serum albumin measurement 		0.700 GeneticVariation GWASDB A genome-wide assessment of variability in human serum metabolism. 23281178 2013
dbSNP: rs1640980
rs1640980
Entrez Id: 18
Gene Symbol: ABAT
ABAT
CUI: C0523465
Disease:
Serum albumin measurement 		0.700 GeneticVariation GWASDB A genome-wide assessment of variability in human serum metabolism. 23281178 2013
dbSNP: rs1731061
rs1731061
Entrez Id: 18
Gene Symbol: ABAT
ABAT
CUI: C0523465
Disease:
Serum albumin measurement 		0.700 GeneticVariation GWASDB A genome-wide assessment of variability in human serum metabolism. 23281178 2013
dbSNP: rs1731062
rs1731062
Entrez Id: 18
Gene Symbol: ABAT
ABAT
CUI: C0523465
Disease:
Serum albumin measurement 		0.700 GeneticVariation GWASDB A genome-wide assessment of variability in human serum metabolism. 23281178 2013
dbSNP: rs1731069
rs1731069
Entrez Id: 18
Gene Symbol: ABAT
ABAT
CUI: C0523465
Disease:
Serum albumin measurement 		0.700 GeneticVariation GWASDB A genome-wide assessment of variability in human serum metabolism. 23281178 2013
dbSNP: rs1731070
rs1731070
Entrez Id: 18
Gene Symbol: ABAT
ABAT
CUI: C0523465
Disease:
Serum albumin measurement 		0.700 GeneticVariation GWASDB A genome-wide assessment of variability in human serum metabolism. 23281178 2013
dbSNP: rs3095512
rs3095512
Entrez Id: 18
Gene Symbol: ABAT
ABAT
CUI: C0523465
Disease:
Serum albumin measurement 		0.700 GeneticVariation GWASDB A genome-wide assessment of variability in human serum metabolism. 23281178 2013
dbSNP: rs121434578
rs121434578
Entrez Id: 18
Gene Symbol: ABAT
ABAT
CUI: C2674422
Disease:
Seizures, intractable 		A 0.700 CausalMutation CLINVAR A new case of GABA transaminase deficiency facilitated by proton MR spectroscopy. 20052547 2010
dbSNP: rs121434578
rs121434578
Entrez Id: 18
Gene Symbol: ABAT
ABAT
CUI: C1837397
Disease:
Severe global developmental delay 		A 0.700 CausalMutation CLINVAR A new case of GABA transaminase deficiency facilitated by proton MR spectroscopy. 20052547 2010
dbSNP: rs121434578
rs121434578
Entrez Id: 18
Gene Symbol: ABAT
ABAT
CUI: C1858120
Disease:
Generalized hypotonia 		A 0.700 CausalMutation CLINVAR A new case of GABA transaminase deficiency facilitated by proton MR spectroscopy. 20052547 2010
dbSNP: rs121434578
rs121434578
Entrez Id: 18
Gene Symbol: ABAT
ABAT
CUI: C0151889
Disease:
Hyperreflexia 		A 0.700 CausalMutation CLINVAR A new case of GABA transaminase deficiency facilitated by proton MR spectroscopy. 20052547 2010
dbSNP: rs724159991
rs724159991
Entrez Id: 18;25880
Gene Symbol: ABAT;TMEM186
ABAT;TMEM186
CUI: C0151889
Disease:
Hyperreflexia 		C 0.700 CausalMutation CLINVAR A new case of GABA transaminase deficiency facilitated by proton MR spectroscopy. 20052547 2010