NOTCH1, notch receptor 1, 4851

N. diseases: 693; N. variants: 64
Source: ALL
Disease Type Disease Class Semantic Type N. genes d N. SNPs d Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
CUI: C0346647
Disease: Malignant neoplasm of pancreas
Malignant neoplasm of pancreas
disease Digestive System Diseases; Neoplasms; Endocrine System Diseases Neoplastic Process 2667 277 0.100 None 0.929 14 2006 2018
CUI: C0017636
Disease: Glioblastoma
Glioblastoma
disease Neoplasms Neoplastic Process 3177 281 0.400 None 0.929 14 2010 2019
CUI: C0025202
Disease: melanoma
melanoma
disease Neoplasms Neoplastic Process 3087 515 0.100 None 1.000 14 2005 2019
Malignant neoplasm of colon and/or rectum
disease Neoplastic Process 3669 502 0.100 None 1.000 13 2009 2018
CUI: C3539878
Disease: Triple Negative Breast Neoplasms
Triple Negative Breast Neoplasms
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 1674 99 0.100 None 1.000 13 2013 2019
Childhood T Acute Lymphoblastic Leukemia
disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 119 2 0.100 None 1.000 11 2005 2019
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
disease Neoplasms Neoplastic Process 3111 6892 0.100 None 1.000 11 2001 2019
CUI: C0349631
Disease: Richter's syndrome
Richter's syndrome
disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 61 1 0.100 None 1.000 11 2011 2020
CUI: C4722518
Disease: Triple-Negative Breast Carcinoma
Triple-Negative Breast Carcinoma
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 1598 96 0.100 None 1.000 11 2013 2019
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder)
disease Neoplasms Neoplastic Process 2438 563 0.100 None 1.000 10 2011 2019
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
group Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 2780 385 0.380 None 1.000 10 2004 2018
Adult T Acute Lymphoblastic Leukemia
disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 102 1 0.100 None 1.000 10 2004 2019
Squamous cell carcinoma of esophagus
disease Digestive System Diseases; Neoplasms Neoplastic Process 2053 329 0.390 None 0.800 10 2011 2019
CUI: C0302592
Disease: Cervix carcinoma
Cervix carcinoma
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process 1881 283 0.090 None 1.000 9 2007 2019
CUI: C0175754
Disease: Agenesis of corpus callosum
Agenesis of corpus callosum
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 615 45 0.090 None 0.889 9 2013 2018
CUI: C0278878
Disease: Adult Glioblastoma
Adult Glioblastoma
disease Neoplasms Neoplastic Process 2528 98 0.090 None 0.889 9 2011 2018
CUI: C0280474
Disease: Childhood Glioblastoma
Childhood Glioblastoma
disease Neoplasms Neoplastic Process 2527 98 0.090 None 0.889 9 2011 2018
CUI: C0282160
Disease: Aplasia Cutis Congenita
Aplasia Cutis Congenita
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Congenital Abnormality 393 14 0.190 None 0.889 9 2013 2018
CUI: C0432408
Disease: Trisomy 12
Trisomy 12
phenotype Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 76 0.090 None 1.000 9 2012 2019
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma
group Neoplasms Neoplastic Process 2235 168 0.090 None 0.889 9 2001 2017
CUI: C0023448
Disease: Lymphoid leukemia
Lymphoid leukemia
disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 288 4 0.080 None 1.000 8 2006 2019
CUI: C0007097
Disease: Carcinoma
Carcinoma
group Neoplasms Neoplastic Process 2462 103 0.080 None 1.000 8 2003 2019
Conventional (Clear Cell) Renal Cell Carcinoma
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 2346 222 0.080 None 1.000 8 2008 2017
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis
disease Musculoskeletal Diseases Disease or Syndrome 1827 247 0.080 None 1.000 8 2001 2019
Infant T Acute Lymphoblastic Leukemia
disease Neoplastic Process 75 1 0.080 None 1.000 8 2005 2019