Source: BEFREE

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: 3155
Gene Symbol: HMGCL
HMGCL 		3-hydroxy-3-methylglutaryl-CoA lyase 0.691 0.462 2.6E-06
CUI: C0268601
Disease: HMG CoA lyase deficiency
HMG CoA lyase deficiency 		disease 0.780 definitive 0.967 8 0 1988 2020
Entrez Id: 3155
Gene Symbol: HMGCL
HMGCL 		3-hydroxy-3-methylglutaryl-CoA lyase 0.691 0.462 2.6E-06
CUI: C0020615
Disease: Hypoglycemia
Hypoglycemia 		disease 0.110 None 1.000 1 0 2015 2015
Entrez Id: 3155
Gene Symbol: HMGCL
HMGCL 		3-hydroxy-3-methylglutaryl-CoA lyase 0.691 0.462 2.6E-06
CUI: C0220994
Disease: Hyperammonemia
Hyperammonemia 		phenotype 0.110 None 1.000 1 0 2015 2015
Entrez Id: 3155
Gene Symbol: HMGCL
HMGCL 		3-hydroxy-3-methylglutaryl-CoA lyase 0.691 0.462 2.6E-06
CUI: C3151466
Disease: HEPATIC LIPASE DEFICIENCY (disorder)
HEPATIC LIPASE DEFICIENCY (disorder) 		disease 0.040 None 1.000 4 0 2004 2020
Entrez Id: 3155
Gene Symbol: HMGCL
HMGCL 		3-hydroxy-3-methylglutaryl-CoA lyase 0.691 0.462 2.6E-06
CUI: C0027651
Disease: Neoplasms
Neoplasms 		group 0.020 None 1.000 2 0 2012 2015
Entrez Id: 3155
Gene Symbol: HMGCL
HMGCL 		3-hydroxy-3-methylglutaryl-CoA lyase 0.691 0.462 2.6E-06
CUI: C0025202
Disease: melanoma
melanoma 		disease 0.010 None 1.000 1 0 2015 2015
Entrez Id: 3155
Gene Symbol: HMGCL
HMGCL 		3-hydroxy-3-methylglutaryl-CoA lyase 0.691 0.462 2.6E-06
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		group 0.010 None 1.000 1 0 2009 2009
Entrez Id: 3155
Gene Symbol: HMGCL
HMGCL 		3-hydroxy-3-methylglutaryl-CoA lyase 0.691 0.462 2.6E-06
CUI: C1291557
Disease: Deficiency of lyase
Deficiency of lyase 		disease 0.010 None 1.000 1 1 2004 2004