Source: GENOMICS_ENGLAND

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: 2806
Gene Symbol: GOT2
GOT2 		glutamic-oxaloacetic transaminase 2 0.529 0.731 1.4E-02
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive 		disease 0.300 None 1.000 1 0 2019 2019
Entrez Id: 2806
Gene Symbol: GOT2
GOT2 		glutamic-oxaloacetic transaminase 2 0.529 0.731 1.4E-02
CUI: C0025958
Disease: Microcephaly
Microcephaly 		disease 0.300 None 1.000 1 0 2019 2019
Entrez Id: 2806
Gene Symbol: GOT2
GOT2 		glutamic-oxaloacetic transaminase 2 0.529 0.731 1.4E-02
CUI: C0036572
Disease: Seizures
Seizures 		phenotype 0.300 None 1.000 1 0 2019 2019
Entrez Id: 2806
Gene Symbol: GOT2
GOT2 		glutamic-oxaloacetic transaminase 2 0.529 0.731 1.4E-02
CUI: C0220994
Disease: Hyperammonemia
Hyperammonemia 		phenotype 0.300 None 1.000 1 0 2019 2019
Entrez Id: 2806
Gene Symbol: GOT2
GOT2 		glutamic-oxaloacetic transaminase 2 0.529 0.731 1.4E-02
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties 		phenotype 0.300 None 1.000 1 0 2019 2019
Entrez Id: 2806
Gene Symbol: GOT2
GOT2 		glutamic-oxaloacetic transaminase 2 0.529 0.731 1.4E-02
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.300 None 1.000 1 0 2019 2019
Entrez Id: 2806
Gene Symbol: GOT2
GOT2 		glutamic-oxaloacetic transaminase 2 0.529 0.731 1.4E-02
CUI: C1836440
Disease: Increased serum lactate
Increased serum lactate 		phenotype 0.300 None 1.000 1 0 2019 2019
Entrez Id: 2806
Gene Symbol: GOT2
GOT2 		glutamic-oxaloacetic transaminase 2 0.529 0.731 1.4E-02
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		group 0.300 None 1.000 1 0 2019 2019
Entrez Id: 2806
Gene Symbol: GOT2
GOT2 		glutamic-oxaloacetic transaminase 2 0.529 0.731 1.4E-02
CUI: C4022810
Disease: Abnormality of nervous system morphology
Abnormality of nervous system morphology 		disease 0.300 None 1.000 1 0 2019 2019