NOTCH2, notch receptor 2, 4853

N. diseases: 384; N. variants: 30
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0917715
Disease: Hajdu-Cheney Syndrome
Hajdu-Cheney Syndrome 		1.000 Biomarker disease GENOMICS_ENGLAND
CUI: C1857761
Disease: Alagille Syndrome 2
Alagille Syndrome 2 		0.700 Biomarker disease CTD_human
CUI: C1857761
Disease: Alagille Syndrome 2
Alagille Syndrome 2 		0.700 GeneticVariation disease CLINVAR
CUI: C1857761
Disease: Alagille Syndrome 2
Alagille Syndrome 2 		0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C1857761
Disease: Alagille Syndrome 2
Alagille Syndrome 2 		0.700 CausalMutation disease CLINVAR
CUI: C1857761
Disease: Alagille Syndrome 2
Alagille Syndrome 2 		0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.680 CausalMutation disease CGI
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.580 CausalMutation disease CGI
CUI: C0085280
Disease: Alagille Syndrome
Alagille Syndrome 		0.500 CausalMutation disease CLINVAR
CUI: C0085280
Disease: Alagille Syndrome
Alagille Syndrome 		0.500 Biomarker disease CTD_human
CUI: C0005684
Disease: Malignant neoplasm of urinary bladder
Malignant neoplasm of urinary bladder 		0.340 CausalMutation disease CGI
CUI: C0024299
Disease: Lymphoma
Lymphoma 		0.340 CausalMutation group CGI
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm 		0.330 CausalMutation disease CGI
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		0.330 CausalMutation disease CGI
CUI: C0699885
Disease: Carcinoma of bladder
Carcinoma of bladder 		0.330 CausalMutation disease CGI
CUI: C0079744
Disease: Diffuse Large B-Cell Lymphoma
Diffuse Large B-Cell Lymphoma 		0.320 CausalMutation disease CGI
CUI: C0917990
Disease: Acro-Osteolysis
Acro-Osteolysis 		0.310 Biomarker disease HPO
CUI: C1961102
Disease: Precursor Cell Lymphoblastic Leukemia Lymphoma
Precursor Cell Lymphoblastic Leukemia Lymphoma 		0.310 CausalMutation disease CGI
CUI: C0154017
Disease: Benign neoplasm of bladder
Benign neoplasm of bladder 		0.300 CausalMutation disease CGI
CUI: C0154091
Disease: Carcinoma in situ of bladder
Carcinoma in situ of bladder 		0.300 CausalMutation disease CGI
CUI: C0280100
Disease: Solid Neoplasm
Solid Neoplasm 		0.300 CausalMutation phenotype CGI
CUI: C0496930
Disease: Neoplasm of uncertain or unknown behavior of bladder
Neoplasm of uncertain or unknown behavior of bladder 		0.300 CausalMutation disease CGI
CUI: C0496956
Disease: Neoplasm of uncertain or unknown behavior of breast
Neoplasm of uncertain or unknown behavior of breast 		0.300 CausalMutation disease CGI
CUI: C0858252
Disease: Breast adenocarcinoma
Breast adenocarcinoma 		0.300 CausalMutation disease CGI
CUI: C1956125
Disease: Alagille Syndrome 1
Alagille Syndrome 1 		0.300 Biomarker disease CTD_human