Source: HPO

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: C0036572
Disease: Seizures
Seizures
phenotype 0.410 None 1.000 0 0 1999 2018
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 0 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 0 0 1999 2010
Entrez Id: 18
Gene Symbol: ABAT
ABAT
4-aminobutyrate aminotransferase 0.628 0.538 6.3E-03
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.400 moderate 1.000 0 0 2016 2016
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 0 0 1999 1999
Entrez Id: 18
Gene Symbol: ABAT
ABAT
4-aminobutyrate aminotransferase 0.628 0.538 6.3E-03
CUI: C1857353
Disease: Posterior fossa cyst
Posterior fossa cyst
phenotype 0.100 None 0 0
Entrez Id: 18
Gene Symbol: ABAT
ABAT
4-aminobutyrate aminotransferase 0.628 0.538 6.3E-03
CUI: C1843392
Disease: Death in childhood
Death in childhood
phenotype 0.100 None 0 0
Entrez Id: 18
Gene Symbol: ABAT
ABAT
4-aminobutyrate aminotransferase 0.628 0.538 6.3E-03
CUI: C1839630
Disease: Severe muscular hypotonia
Severe muscular hypotonia
phenotype 0.100 None 0 0
Entrez Id: 18
Gene Symbol: ABAT
ABAT
4-aminobutyrate aminotransferase 0.628 0.538 6.3E-03
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure
phenotype 0.100 None 0 0
Entrez Id: 18
Gene Symbol: ABAT
ABAT
4-aminobutyrate aminotransferase 0.628 0.538 6.3E-03
CUI: C0266470
Disease: Cerebellar Hypoplasia
Cerebellar Hypoplasia
disease 0.100 None 0 0
Entrez Id: 18
Gene Symbol: ABAT
ABAT
4-aminobutyrate aminotransferase 0.628 0.538 6.3E-03
CUI: C0241240
Disease: Tall stature
Tall stature
phenotype 0.100 None 0 0
Entrez Id: 18
Gene Symbol: ABAT
ABAT
4-aminobutyrate aminotransferase 0.628 0.538 6.3E-03
CUI: C0239154
Disease: High pitched cry
High pitched cry
phenotype 0.100 None 0 0
Entrez Id: 18
Gene Symbol: ABAT
ABAT
4-aminobutyrate aminotransferase 0.628 0.538 6.3E-03
CUI: C0175754
Disease: Agenesis of corpus callosum
Agenesis of corpus callosum
disease 0.100 None 0 0
Entrez Id: 18
Gene Symbol: ABAT
ABAT
4-aminobutyrate aminotransferase 0.628 0.538 6.3E-03
CUI: C0023520
Disease: Leukodystrophy
Leukodystrophy
disease 0.100 None 0 0
Entrez Id: 18
Gene Symbol: ABAT
ABAT
4-aminobutyrate aminotransferase 0.628 0.538 6.3E-03
CUI: C3494422
Disease: Retrognathia
Retrognathia
disease 0.100 None 0 0