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: 5091
Gene Symbol: PC
PC 		pyruvate carboxylase 0.515 0.808 1.4E-02
CUI: C0034341
Disease: Pyruvate Carboxylase Deficiency Disease
Pyruvate Carboxylase Deficiency Disease 		disease 0.700 None 0.971 30 1 1983 2019
Entrez Id: 5091
Gene Symbol: PC
PC 		pyruvate carboxylase 0.515 0.808 1.4E-02
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		disease 0.240 None 0.800 4 0 2005 2019
Entrez Id: 5091
Gene Symbol: PC
PC 		pyruvate carboxylase 0.515 0.808 1.4E-02
CUI: C0001125
Disease: Acidosis, Lactic
Acidosis, Lactic 		phenotype 0.120 None 1.000 2 0 1998 2002
Entrez Id: 5091
Gene Symbol: PC
PC 		pyruvate carboxylase 0.515 0.808 1.4E-02
CUI: C0020615
Disease: Hypoglycemia
Hypoglycemia 		disease 0.120 None 1.000 2 0 2018 2018
Entrez Id: 5091
Gene Symbol: PC
PC 		pyruvate carboxylase 0.515 0.808 1.4E-02
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		group 0.110 None 1.000 1 0 1998 1998
Entrez Id: 5091
Gene Symbol: PC
PC 		pyruvate carboxylase 0.515 0.808 1.4E-02
CUI: C0036572
Disease: Seizures
Seizures 		phenotype 0.110 None 1.000 1 0 2017 2017
Entrez Id: 5091
Gene Symbol: PC
PC 		pyruvate carboxylase 0.515 0.808 1.4E-02
CUI: C1861172
Disease: Venous Thromboembolism
Venous Thromboembolism 		phenotype 0.100 None 1.000 15 0 1991 2020
Entrez Id: 5091
Gene Symbol: PC
PC 		pyruvate carboxylase 0.515 0.808 1.4E-02
CUI: C0398623
Disease: Thrombophilia
Thrombophilia 		disease 0.100 None 1.000 14 0 1997 2019
Entrez Id: 5091
Gene Symbol: PC
PC 		pyruvate carboxylase 0.515 0.808 1.4E-02
CUI: C0584960
Disease: Factor V Leiden mutation
Factor V Leiden mutation 		disease 0.100 None 1.000 11 1 1997 2018
Entrez Id: 5091
Gene Symbol: PC
PC 		pyruvate carboxylase 0.515 0.808 1.4E-02
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		group 0.080 None 1.000 8 0 2015 2020
Entrez Id: 5091
Gene Symbol: PC
PC 		pyruvate carboxylase 0.515 0.808 1.4E-02
CUI: C0085650
Disease: Purpura Fulminans
Purpura Fulminans 		disease 0.070 None 1.000 7 0 1992 2019
Entrez Id: 5091
Gene Symbol: PC
PC 		pyruvate carboxylase 0.515 0.808 1.4E-02
CUI: C0600433
Disease: Activated Protein C Resistance
Activated Protein C Resistance 		disease 0.070 None 1.000 7 0 1998 2017
Entrez Id: 5091
Gene Symbol: PC
PC 		pyruvate carboxylase 0.515 0.808 1.4E-02
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		disease 0.060 None 1.000 6 0 2014 2018
Entrez Id: 5091
Gene Symbol: PC
PC 		pyruvate carboxylase 0.515 0.808 1.4E-02
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		group 0.060 None 1.000 6 0 2017 2020
Entrez Id: 5091
Gene Symbol: PC
PC 		pyruvate carboxylase 0.515 0.808 1.4E-02
CUI: C0311370
Disease: Lupus anticoagulant disorder
Lupus anticoagulant disorder 		disease 0.060 None 1.000 6 0 1987 2010
Entrez Id: 5091
Gene Symbol: PC
PC 		pyruvate carboxylase 0.515 0.808 1.4E-02
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		disease 0.060 None 1.000 6 0 2014 2018
Entrez Id: 5091
Gene Symbol: PC
PC 		pyruvate carboxylase 0.515 0.808 1.4E-02
CUI: C0027651
Disease: Neoplasms
Neoplasms 		group 0.050 None 1.000 5 0 2015 2018
Entrez Id: 5091
Gene Symbol: PC
PC 		pyruvate carboxylase 0.515 0.808 1.4E-02
CUI: C0012739
Disease: Disseminated Intravascular Coagulation
Disseminated Intravascular Coagulation 		disease 0.050 None 1.000 5 0 1987 2019
Entrez Id: 5091
Gene Symbol: PC
PC 		pyruvate carboxylase 0.515 0.808 1.4E-02
CUI: C0243026
Disease: Sepsis
Sepsis 		disease 0.040 None 1.000 4 0 2003 2015
Entrez Id: 5091
Gene Symbol: PC
PC 		pyruvate carboxylase 0.515 0.808 1.4E-02
CUI: C0036690
Disease: Septicemia
Septicemia 		disease 0.040 None 1.000 4 0 2003 2015
Entrez Id: 5091
Gene Symbol: PC
PC 		pyruvate carboxylase 0.515 0.808 1.4E-02
CUI: C0149871
Disease: Deep Vein Thrombosis
Deep Vein Thrombosis 		disease 0.040 None 1.000 4 1 1993 2016
Entrez Id: 5091
Gene Symbol: PC
PC 		pyruvate carboxylase 0.515 0.808 1.4E-02
CUI: C0028754
Disease: Obesity
Obesity 		disease 0.030 None 1.000 3 0 2014 2019
Entrez Id: 5091
Gene Symbol: PC
PC 		pyruvate carboxylase 0.515 0.808 1.4E-02
CUI: C0041296
Disease: Tuberculosis
Tuberculosis 		disease 0.030 None 1.000 3 0 2013 2017
Entrez Id: 5091
Gene Symbol: PC
PC 		pyruvate carboxylase 0.515 0.808 1.4E-02
CUI: C2584620
Disease: Thrombophilia, hereditary
Thrombophilia, hereditary 		disease 0.030 None 1.000 3 0 1996 2017
Entrez Id: 5091
Gene Symbol: PC
PC 		pyruvate carboxylase 0.515 0.808 1.4E-02
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident 		group 0.030 None 0.667 3 0 2005 2018