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: rs724159990
rs724159990
Entrez Id: 18
Gene Symbol: ABAT
ABAT
CUI: C1837397
Disease:
Severe global developmental delay 		T 0.700 CausalMutation CLINVAR
dbSNP: rs724159990
rs724159990
Entrez Id: 18
Gene Symbol: ABAT
ABAT
CUI: C1858120
Disease:
Generalized hypotonia 		T 0.700 CausalMutation CLINVAR
dbSNP: rs724159992
rs724159992
Entrez Id: 18
Gene Symbol: ABAT
ABAT
CUI: C0342708
Disease:
Gamma aminobutyric acid transaminase deficiency 		A 0.700 CausalMutation CLINVAR A new case of GABA transaminase deficiency facilitated by proton MR spectroscopy. 20052547 2010
dbSNP: rs724159992
rs724159992
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: rs724159992
rs724159992
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: rs724159992
rs724159992
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: rs724159992
rs724159992
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: 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: rs1555494322
rs1555494322
Entrez Id: 18;25880
Gene Symbol: ABAT;TMEM186
ABAT;TMEM186
CUI: C0342708
Disease:
Gamma aminobutyric acid transaminase deficiency 		C 0.700 CausalMutation CLINVAR
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
dbSNP: rs724159991
rs724159991
Entrez Id: 18;25880
Gene Symbol: ABAT;TMEM186
ABAT;TMEM186
CUI: C2674422
Disease:
Seizures, intractable 		C 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: C1858120
Disease:
Generalized hypotonia 		C 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: C1837397
Disease:
Severe global developmental delay 		C 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: C0342708
Disease:
Gamma aminobutyric acid transaminase deficiency 		C 0.700 CausalMutation CLINVAR A new case of GABA transaminase deficiency facilitated by proton MR spectroscopy. 20052547 2010
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: 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