Source: ORPHANET

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: 7157
Gene Symbol: TP53
TP53
tumor protein p53 0.236 0.962 0.53
CUI: C0023434
Disease: Chronic Lymphocytic Leukemia
Chronic Lymphocytic Leukemia
disease 0.800 None 0.977 5 0 1991 2020
Entrez Id: 7157
Gene Symbol: TP53
TP53
tumor protein p53 0.236 0.962 0.53
CUI: C0855095
Disease: Small Lymphocytic Lymphoma
Small Lymphocytic Lymphoma
disease 0.320 None 1.000 5 0 1997 2011
Entrez Id: 7157
Gene Symbol: TP53
TP53
tumor protein p53 0.236 0.962 0.53
CUI: C1868683
Disease: B-CELL MALIGNANCY, LOW-GRADE
B-CELL MALIGNANCY, LOW-GRADE
disease 0.400 None 0.941 5 0 1992 2019
Entrez Id: 7157
Gene Symbol: TP53
TP53
tumor protein p53 0.236 0.962 0.53
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma
disease 1.000 None 0.953 3 0 1987 2020
Entrez Id: 7157
Gene Symbol: TP53
TP53
tumor protein p53 0.236 0.962 0.53
CUI: C0040028
Disease: Thrombocythemia, Essential
Thrombocythemia, Essential
disease 0.330 None 0.800 3 0 1996 2011
Entrez Id: 7157
Gene Symbol: TP53
TP53
tumor protein p53 0.236 0.962 0.53
Hereditary Breast and Ovarian Cancer Syndrome
disease 0.500 None 0.941 2 0 1994 2019
Entrez Id: 7157
Gene Symbol: TP53
TP53
tumor protein p53 0.236 0.962 0.53
CUI: C0006413
Disease: Burkitt Lymphoma
Burkitt Lymphoma
disease 0.400 None 0.984 1 0 1990 2019
Entrez Id: 7157
Gene Symbol: TP53
TP53
tumor protein p53 0.236 0.962 0.53
CUI: C0149925
Disease: Small cell carcinoma of lung
Small cell carcinoma of lung
disease 0.700 None 0.960 1 0 1990 2019
Entrez Id: 7157
Gene Symbol: TP53
TP53
tumor protein p53 0.236 0.962 0.53
CUI: C0205770
Disease: Choroid Plexus Papilloma
Choroid Plexus Papilloma
disease 0.740 None 0.750 1 0 2002 2016
Entrez Id: 7157
Gene Symbol: TP53
TP53
tumor protein p53 0.236 0.962 0.53
CUI: C0206686
Disease: Adrenocortical carcinoma
Adrenocortical carcinoma
disease 0.800 strong 0.960 1 0 1992 2017
Entrez Id: 7157
Gene Symbol: TP53
TP53
tumor protein p53 0.236 0.962 0.53
CUI: C0206726
Disease: gliosarcoma
gliosarcoma
disease 0.350 None 1.000 1 0 1995 2017
Entrez Id: 7157
Gene Symbol: TP53
TP53
tumor protein p53 0.236 0.962 0.53
CUI: C0279607
Disease: Adult Hepatocellular Carcinoma
Adult Hepatocellular Carcinoma
disease 0.330 None 1.000 1 0 1994 2019
Entrez Id: 7157
Gene Symbol: TP53
TP53
tumor protein p53 0.236 0.962 0.53
CUI: C0334588
Disease: Giant Cell Glioblastoma
Giant Cell Glioblastoma
disease 0.340 None 1.000 1 0 1997 2019
Entrez Id: 7157
Gene Symbol: TP53
TP53
tumor protein p53 0.236 0.962 0.53
CUI: C0431109
Disease: Choroid Plexus Carcinoma
Choroid Plexus Carcinoma
disease 0.500 None 1.000 1 0 2001 2019
Entrez Id: 7157
Gene Symbol: TP53
TP53
tumor protein p53 0.236 0.962 0.53
Precursor B-cell lymphoblastic leukemia
disease 0.400 None 1.000 1 0 1991 2019
Entrez Id: 7157
Gene Symbol: TP53
TP53
tumor protein p53 0.236 0.962 0.53
CUI: C2931038
Disease: Pancreatic carcinoma, familial
Pancreatic carcinoma, familial
disease 0.300 None 1.000 1 0 2015 2015
Entrez Id: 3569
Gene Symbol: IL6
IL6
interleukin 6 0.248 0.962 0.32
CUI: C0087031
Disease: Juvenile-Onset Still Disease
Juvenile-Onset Still Disease
disease 0.300 None 0 0
Entrez Id: 3569
Gene Symbol: IL6
IL6
interleukin 6 0.248 0.962 0.32
Systemic onset juvenile chronic arthritis
disease 0.400 None 1.000 0 0 1998 2019
Entrez Id: 3586
Gene Symbol: IL10
IL10
interleukin 10 0.281 0.923 5.9E-03
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic
disease 0.700 None 0.945 4 0 1994 2019
Entrez Id: 3586
Gene Symbol: IL10
IL10
interleukin 10 0.281 0.923 5.9E-03
CUI: C0004943
Disease: Behcet Syndrome
Behcet Syndrome
disease 0.700 None 0.857 2 0 2007 2019
Entrez Id: 7040
Gene Symbol: TGFB1
TGFB1
transforming growth factor beta 1 0.287 0.962 3.7E-02
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
disease 0.700 moderate 0.952 1 0 2000 2019
Entrez Id: 3458
Gene Symbol: IFNG
IFNG
interferon gamma 0.288 0.962 0.47
CUI: C0348890
Disease: Aplastic anemia, idiopathic
Aplastic anemia, idiopathic
disease 0.310 None 1.000 1 0 2004 2014
Entrez Id: 596
Gene Symbol: BCL2
BCL2
BCL2 apoptosis regulator 0.291 0.885 0.56
CUI: C0024301
Disease: Lymphoma, Follicular
Lymphoma, Follicular
disease 0.600 None 0.969 2 0 1985 2020
Entrez Id: 596
Gene Symbol: BCL2
BCL2
BCL2 apoptosis regulator 0.291 0.885 0.56
CUI: C0334660
Disease: Angioendotheliomatosis
Angioendotheliomatosis
disease 0.300 None 1.000 1 0 2009 2009
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha 0.292 0.923 1.00
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple
disease 0.430 None 1.000 1 0 2005 2016