Source: CTD_human

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 18
Gene Symbol: ABAT
ABAT 		4-aminobutyrate aminotransferase 0.628 0.538 6.3E-03
CUI: C0342708
Disease: Gamma aminobutyric acid transaminase deficiency
Gamma aminobutyric acid transaminase deficiency 		disease 0.700 None 1.000 1 0 1998 2019
Entrez Id: 18
Gene Symbol: ABAT
ABAT 		4-aminobutyrate aminotransferase 0.628 0.538 6.3E-03
CUI: C0270824
Disease: Visual seizure
Visual seizure 		disease 0.500 None 1.000 1 0 1989 2012
Entrez Id: 18
Gene Symbol: ABAT
ABAT 		4-aminobutyrate aminotransferase 0.628 0.538 6.3E-03
CUI: C0036572
Disease: Seizures
Seizures 		phenotype 0.410 None 1.000 1 0 1999 2018
Entrez Id: 18
Gene Symbol: ABAT
ABAT 		4-aminobutyrate aminotransferase 0.628 0.538 6.3E-03
CUI: C0424230
Disease: Motor retardation
Motor retardation 		phenotype 0.400 None 1.000 1 0 1999 1999
Entrez Id: 18
Gene Symbol: ABAT
ABAT 		4-aminobutyrate aminotransferase 0.628 0.538 6.3E-03
CUI: C0023380
Disease: Lethargy
Lethargy 		phenotype 0.400 None 1.000 1 0 1999 1999
Entrez Id: 18
Gene Symbol: ABAT
ABAT 		4-aminobutyrate aminotransferase 0.628 0.538 6.3E-03
CUI: C0151889
Disease: Hyperreflexia
Hyperreflexia 		phenotype 0.400 None 1.000 1 0 1999 2010
Entrez Id: 18
Gene Symbol: ABAT
ABAT 		4-aminobutyrate aminotransferase 0.628 0.538 6.3E-03
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		disease 0.310 None 1.000 1 0 2005 2005
Entrez Id: 18
Gene Symbol: ABAT
ABAT 		4-aminobutyrate aminotransferase 0.628 0.538 6.3E-03
CUI: C0017168
Disease: Gastroesophageal reflux disease
Gastroesophageal reflux disease 		disease 0.310 None 1.000 1 0 2011 2011
Entrez Id: 18
Gene Symbol: ABAT
ABAT 		4-aminobutyrate aminotransferase 0.628 0.538 6.3E-03
CUI: C4048158
Disease: Convulsions
Convulsions 		phenotype 0.300 None 1.000 1 0 1999 1999
Entrez Id: 18
Gene Symbol: ABAT
ABAT 		4-aminobutyrate aminotransferase 0.628 0.538 6.3E-03
CUI: C0751473
Disease: Reflex, Ankle, Decreased
Reflex, Ankle, Decreased 		phenotype 0.300 None 1.000 1 0 1999 1999
Entrez Id: 18
Gene Symbol: ABAT
ABAT 		4-aminobutyrate aminotransferase 0.628 0.538 6.3E-03
CUI: C4505436
Disease: Generalized Absence Seizures
Generalized Absence Seizures 		phenotype 0.300 None 1.000 1 0 1999 1999
Entrez Id: 18
Gene Symbol: ABAT
ABAT 		4-aminobutyrate aminotransferase 0.628 0.538 6.3E-03
CUI: C0751472
Disease: Reflex, Ankle, Abnormal
Reflex, Ankle, Abnormal 		phenotype 0.300 None 1.000 1 0 1999 1999
Entrez Id: 18
Gene Symbol: ABAT
ABAT 		4-aminobutyrate aminotransferase 0.628 0.538 6.3E-03
CUI: C0751471
Disease: Reflex, Anal, Decreased
Reflex, Anal, Decreased 		phenotype 0.300 None 1.000 1 0 1999 1999
Entrez Id: 18
Gene Symbol: ABAT
ABAT 		4-aminobutyrate aminotransferase 0.628 0.538 6.3E-03
CUI: C0751470
Disease: Palmo-Mental Reflex
Palmo-Mental Reflex 		phenotype 0.300 None 1.000 1 0 1999 1999
Entrez Id: 18
Gene Symbol: ABAT
ABAT 		4-aminobutyrate aminotransferase 0.628 0.538 6.3E-03
CUI: C0751469
Disease: Bulbocavernousus Reflex Absent
Bulbocavernousus Reflex Absent 		phenotype 0.300 None 1.000 1 0 1999 1999
Entrez Id: 18
Gene Symbol: ABAT
ABAT 		4-aminobutyrate aminotransferase 0.628 0.538 6.3E-03
CUI: C0751468
Disease: Bulbocavernosus Reflex, Decreased
Bulbocavernosus Reflex, Decreased 		phenotype 0.300 None 1.000 1 0 1999 1999
Entrez Id: 18
Gene Symbol: ABAT
ABAT 		4-aminobutyrate aminotransferase 0.628 0.538 6.3E-03
CUI: C0751456
Disease: Developmental Psychomotor Disorders
Developmental Psychomotor Disorders 		group 0.300 None 1.000 1 0 1999 1999
Entrez Id: 18
Gene Symbol: ABAT
ABAT 		4-aminobutyrate aminotransferase 0.628 0.538 6.3E-03
CUI: C0751330
Disease: Unilateral Hypotonia
Unilateral Hypotonia 		phenotype 0.300 None 1.000 1 0 1999 1999
Entrez Id: 18
Gene Symbol: ABAT
ABAT 		4-aminobutyrate aminotransferase 0.628 0.538 6.3E-03
CUI: C0751123
Disease: Atonic Absence Seizures
Atonic Absence Seizures 		phenotype 0.300 None 1.000 1 0 1999 1999
Entrez Id: 18
Gene Symbol: ABAT
ABAT 		4-aminobutyrate aminotransferase 0.628 0.538 6.3E-03
CUI: C0751110
Disease: Single Seizure
Single Seizure 		disease 0.300 None 1.000 1 0 1999 1999
Entrez Id: 18
Gene Symbol: ABAT
ABAT 		4-aminobutyrate aminotransferase 0.628 0.538 6.3E-03
CUI: C0751056
Disease: Non-epileptic convulsion
Non-epileptic convulsion 		phenotype 0.300 None 1.000 1 0 1999 1999
Entrez Id: 18
Gene Symbol: ABAT
ABAT 		4-aminobutyrate aminotransferase 0.628 0.538 6.3E-03
CUI: C0743002
Disease: Abnormal Deep Tendon Reflex
Abnormal Deep Tendon Reflex 		phenotype 0.300 None 1.000 1 0 1999 1999
Entrez Id: 18
Gene Symbol: ABAT
ABAT 		4-aminobutyrate aminotransferase 0.628 0.538 6.3E-03
CUI: C0751474
Disease: Reflex, Biceps, Abnormal
Reflex, Biceps, Abnormal 		phenotype 0.300 None 1.000 1 0 1999 1999
Entrez Id: 18
Gene Symbol: ABAT
ABAT 		4-aminobutyrate aminotransferase 0.628 0.538 6.3E-03
CUI: C0751475
Disease: Reflex, Biceps, Decreased
Reflex, Biceps, Decreased 		phenotype 0.300 None 1.000 1 0 1999 1999
Entrez Id: 18
Gene Symbol: ABAT
ABAT 		4-aminobutyrate aminotransferase 0.628 0.538 6.3E-03
CUI: C3495874
Disease: Nonepileptic Seizures
Nonepileptic Seizures 		phenotype 0.300 None 1.000 1 0 1999 1999