Source: INFERRED

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: 39
Gene Symbol: ACAT2
ACAT2 		acetyl-CoA acetyltransferase 2 0.686 0.462 5.5E-07
CUI: C1096202
Disease: Lipoprotein (a) measurement
Lipoprotein (a) measurement 		phenotype 0.100 None 1.000 1 1 2018 2018
Entrez Id: 39
Gene Symbol: ACAT2
ACAT2 		acetyl-CoA acetyltransferase 2 0.686 0.462 5.5E-07
CUI: C0008489
Disease: Chorea
Chorea 		phenotype 0.100 None 0 0
Entrez Id: 39
Gene Symbol: ACAT2
ACAT2 		acetyl-CoA acetyltransferase 2 0.686 0.462 5.5E-07
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.100 None 0 0
Entrez Id: 39
Gene Symbol: ACAT2
ACAT2 		acetyl-CoA acetyltransferase 2 0.686 0.462 5.5E-07
CUI: C1836440
Disease: Increased serum lactate
Increased serum lactate 		phenotype 0.100 None 0 0
Entrez Id: 39
Gene Symbol: ACAT2
ACAT2 		acetyl-CoA acetyltransferase 2 0.686 0.462 5.5E-07
CUI: C1849488
Disease: Increased serum pyruvate
Increased serum pyruvate 		phenotype 0.100 None 0 0
Entrez Id: 39
Gene Symbol: ACAT2
ACAT2 		acetyl-CoA acetyltransferase 2 0.686 0.462 5.5E-07
CUI: C1853237
Disease: Isolated cases
Isolated cases 		phenotype 0.100 None 0 0
Entrez Id: 39
Gene Symbol: ACAT2
ACAT2 		acetyl-CoA acetyltransferase 2 0.686 0.462 5.5E-07
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		phenotype 0.100 None 0 0