Source: INFERRED

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 25880
Gene Symbol: TMEM186
TMEM186
CUI: C0342708
Disease: Gamma aminobutyric acid transaminase deficiency
Gamma aminobutyric acid transaminase deficiency 		0.100 CausalMutation CLINVAR 2-Pyrrolidinone and Succinimide as Clinical Screening Biomarkers for GABA-Transaminase Deficiency: Anti-seizure Medications Impact Accurate Diagnosis. 31133775

2019
Entrez Id: 25880
Gene Symbol: TMEM186
TMEM186
CUI: C0342708
Disease: Gamma aminobutyric acid transaminase deficiency
Gamma aminobutyric acid transaminase deficiency 		0.100 CausalMutation CLINVAR Personalized medicine approach confirms a milder case of ABAT deficiency. 27903293

2016
Entrez Id: 25880
Gene Symbol: TMEM186
TMEM186
CUI: C0151889
Disease: Hyperreflexia
Hyperreflexia 		0.100 CausalMutation CLINVAR A new case of GABA transaminase deficiency facilitated by proton MR spectroscopy. 20052547

2010
Entrez Id: 25880
Gene Symbol: TMEM186
TMEM186
CUI: C0342708
Disease: Gamma aminobutyric acid transaminase deficiency
Gamma aminobutyric acid transaminase deficiency 		0.100 CausalMutation CLINVAR A new case of GABA transaminase deficiency facilitated by proton MR spectroscopy. 20052547

2010
Entrez Id: 25880
Gene Symbol: TMEM186
TMEM186
CUI: C1837397
Disease: Severe global developmental delay
Severe global developmental delay 		0.100 CausalMutation CLINVAR A new case of GABA transaminase deficiency facilitated by proton MR spectroscopy. 20052547

2010
Entrez Id: 25880
Gene Symbol: TMEM186
TMEM186
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		0.100 CausalMutation CLINVAR A new case of GABA transaminase deficiency facilitated by proton MR spectroscopy. 20052547

2010
Entrez Id: 25880
Gene Symbol: TMEM186
TMEM186
CUI: C2674422
Disease: Seizures, intractable
Seizures, intractable 		0.100 CausalMutation CLINVAR A new case of GABA transaminase deficiency facilitated by proton MR spectroscopy. 20052547

2010