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: rs1330995774
rs1330995774
Entrez Id: 18
Gene Symbol: ABAT
ABAT
CUI: C0342708
Disease:
Gamma aminobutyric acid transaminase deficiency 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1555492932
rs1555492932
Entrez Id: 18
Gene Symbol: ABAT
ABAT
CUI: C0342708
Disease:
Gamma aminobutyric acid transaminase deficiency 		G 0.700 CausalMutation CLINVAR
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: rs724159990
rs724159990
Entrez Id: 18
Gene Symbol: ABAT
ABAT
CUI: C2674422
Disease:
Seizures, intractable 		T 0.700 CausalMutation CLINVAR
dbSNP: rs724159990
rs724159990
Entrez Id: 18
Gene Symbol: ABAT
ABAT
CUI: C0151889
Disease:
Hyperreflexia 		T 0.700 CausalMutation CLINVAR
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: 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: 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: 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
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: 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: 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: 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