Source: HPO

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 18
Gene Symbol: ABAT
ABAT
CUI: C0036572
Disease: Seizures
Seizures 		0.410 Biomarker HPO

Entrez Id: 18
Gene Symbol: ABAT
ABAT
CUI: C0023380
Disease: Lethargy
Lethargy 		0.400 Biomarker HPO

Entrez Id: 18
Gene Symbol: ABAT
ABAT
CUI: C0151889
Disease: Hyperreflexia
Hyperreflexia 		0.400 Biomarker HPO

Entrez Id: 18
Gene Symbol: ABAT
ABAT
CUI: C0424230
Disease: Motor retardation
Motor retardation 		0.400 Biomarker HPO

Entrez Id: 18
Gene Symbol: ABAT
ABAT
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.400 Biomarker HPO

Entrez Id: 18
Gene Symbol: ABAT
ABAT
CUI: C0023520
Disease: Leukodystrophy
Leukodystrophy 		0.100 Biomarker HPO

Entrez Id: 18
Gene Symbol: ABAT
ABAT
CUI: C0175754
Disease: Agenesis of corpus callosum
Agenesis of corpus callosum 		0.100 Biomarker HPO

Entrez Id: 18
Gene Symbol: ABAT
ABAT
CUI: C0239154
Disease: High pitched cry
High pitched cry 		0.100 Biomarker HPO

Entrez Id: 18
Gene Symbol: ABAT
ABAT
CUI: C0241240
Disease: Tall stature
Tall stature 		0.100 Biomarker HPO

Entrez Id: 18
Gene Symbol: ABAT
ABAT
CUI: C0266470
Disease: Cerebellar Hypoplasia
Cerebellar Hypoplasia 		0.100 Biomarker HPO

Entrez Id: 18
Gene Symbol: ABAT
ABAT
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		0.100 Biomarker HPO

Entrez Id: 18
Gene Symbol: ABAT
ABAT
CUI: C1839630
Disease: Severe muscular hypotonia
Severe muscular hypotonia 		0.100 Biomarker HPO

Entrez Id: 18
Gene Symbol: ABAT
ABAT
CUI: C1843392
Disease: Death in childhood
Death in childhood 		0.100 Biomarker HPO

Entrez Id: 18
Gene Symbol: ABAT
ABAT
CUI: C1857353
Disease: Posterior fossa cyst
Posterior fossa cyst 		0.100 Biomarker HPO

Entrez Id: 18
Gene Symbol: ABAT
ABAT
CUI: C3494422
Disease: Retrognathia
Retrognathia 		0.100 Biomarker HPO