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: 7157
Gene Symbol: TP53
TP53 		tumor protein p53 0.236 0.962 0.53
CUI: C3553606
Disease: BASAL CELL CARCINOMA, SUSCEPTIBILITY TO, 7
BASAL CELL CARCINOMA, SUSCEPTIBILITY TO, 7 		disease 0.400 None 0 0
Entrez Id: 7157
Gene Symbol: TP53
TP53 		tumor protein p53 0.236 0.962 0.53
CUI: C4748488
Disease: BONE MARROW FAILURE SYNDROME 5
BONE MARROW FAILURE SYNDROME 5 		disease 0.400 limited 0 0
Entrez Id: 3586
Gene Symbol: IL10
IL10 		interleukin 10 0.281 0.923 5.9E-03
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		disease 0.700 strong 0.962 0 0 1996 2020
Entrez Id: 7040
Gene Symbol: TGFB1
TGFB1 		transforming growth factor beta 1 0.287 0.962 3.7E-02
CUI: C0011989
Disease: Camurati-Engelmann Syndrome
Camurati-Engelmann Syndrome 		disease 0.800 None 1.000 1 0 2000 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 0 0 2000 2019
Entrez Id: 3458
Gene Symbol: IFNG
IFNG 		interferon gamma 0.288 0.962 0.47
CUI: C0002874
Disease: Aplastic Anemia
Aplastic Anemia 		disease 0.900 limited 1.000 1 0 1992 2020
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA 		phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha 0.292 0.923 1.00
CUI: C1865285
Disease: Megalencephaly cutis marmorata telangiectatica congenita
Megalencephaly cutis marmorata telangiectatica congenita 		disease 0.770 None 1.000 4 0 2009 2020
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA 		phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha 0.292 0.923 1.00
CUI: C2752042
Disease: Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi
Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi 		disease 0.950 None 1.000 3 0 2009 2017
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA 		phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha 0.292 0.923 1.00
CUI: C0158570
Disease: Vascular anomaly
Vascular anomaly 		phenotype 0.370 strong 1.000 2 0 2012 2019
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA 		phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha 0.292 0.923 1.00
CUI: C0152427
Disease: Polydactyly
Polydactyly 		disease 0.400 strong 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: C0265552
Disease: Congenital macrodactylia
Congenital macrodactylia 		disease 0.670 strong 1.000 1 0 2009 2020
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA 		phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha 0.292 0.923 1.00
CUI: C2751313
Disease: CLAPO Syndrome
CLAPO Syndrome 		disease 0.600 strong 1.000 1 0 2009 2018
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA 		phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha 0.292 0.923 1.00
CUI: C3554518
Disease: COWDEN SYNDROME 5
COWDEN SYNDROME 5 		disease 0.700 limited 1.000 1 0 2005 2013
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA 		phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha 0.292 0.923 1.00
CUI: C3550024
Disease: MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC
MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC 		phenotype 0.300 None 0 0
Entrez Id: 1956
Gene Symbol: EGFR
EGFR 		epidermal growth factor receptor 0.295 0.885 0.37
CUI: C4015130
Disease: INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2
INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2 		disease 0.700 strong 1.000 1 0 2014 2015
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A 		cyclin dependent kinase inhibitor 2A 0.300 0.885 0.39
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia 		disease 0.400 limited 0.988 1 0 1994 2019
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A 		cyclin dependent kinase inhibitor 2A 0.300 0.885 0.39
CUI: C0023452
Disease: Childhood Acute Lymphoblastic Leukemia
Childhood Acute Lymphoblastic Leukemia 		disease 0.600 limited 0.955 1 0 1994 2019
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A 		cyclin dependent kinase inhibitor 2A 0.300 0.885 0.39
CUI: C0751606
Disease: Adult Acute Lymphocytic Leukemia
Adult Acute Lymphocytic Leukemia 		disease 0.400 limited 0.977 1 0 1994 2019
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A 		cyclin dependent kinase inhibitor 2A 0.300 0.885 0.39
CUI: C1835044
Disease: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2 		disease 0.700 strong 1.000 1 0 1994 2010
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A 		cyclin dependent kinase inhibitor 2A 0.300 0.885 0.39
CUI: C4283859
Disease: Cutaneous Malignant Melanoma 2
Cutaneous Malignant Melanoma 2 		disease 0.300 strong 1.000 1 0 2010 2010
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A 		cyclin dependent kinase inhibitor 2A 0.300 0.885 0.39
CUI: C0025202
Disease: melanoma
melanoma 		disease 0.800 strong 0.950 0 0 1994 2020
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1 		catenin beta 1 0.303 0.885 1.00
CUI: C3554449
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 19
MENTAL RETARDATION, AUTOSOMAL DOMINANT 19 		disease 0.700 strong 1.000 2 0 1989 2017
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1 		catenin beta 1 0.303 0.885 1.00
CUI: C0431350
Disease: Primary microcephaly
Primary microcephaly 		disease 0.300 strong 1.000 1 0 2016 2016
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1 		catenin beta 1 0.303 0.885 1.00
CUI: C4539767
Disease: EXUDATIVE VITREORETINOPATHY 7
EXUDATIVE VITREORETINOPATHY 7 		disease 0.600 strong 1.000 1 0 2017 2017
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1 		catenin beta 1 0.303 0.885 1.00
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		disease 0.800 strong 0.982 0 0 1998 2020