NOTCH1, notch 1, 4851

N. diseases: 389; N. variants: 34
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: C4014970
Disease: ADAMS-OLIVER SYNDROME 5
ADAMS-OLIVER SYNDROME 5
disease Disease or Syndrome 1 13 0.400 5 13 1992 2018
Congenital aneurysm of ascending aorta
disease Cardiovascular Diseases Congenital Abnormality 57 3 0.300 strong 5 2005 2016
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome
disease Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 72 379 0.300 limited 4 2005 2016
CUI: C0013720
Disease: Ehlers-Danlos Syndrome
Ehlers-Danlos Syndrome
disease Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 104 8 0.300 moderate 3 2006 2016
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
group Digestive System Diseases; Neoplasms Neoplastic Process 1072 226 0.020 2 2008 2009
CUI: C0010828
Disease: Cytopenia
Cytopenia
phenotype Pathologic Function 206 0.300 limited 2 2011 2011
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
disease Digestive System Diseases Disease or Syndrome 911 956 0.100 2 3 2012 2016
CUI: C0003130
Disease: Anoxia
Anoxia
phenotype Pathological Conditions, Signs and Symptoms Pathologic Function 287 0.020 2 2008 2009
CUI: C0158995
Disease: Congenital anemia
Congenital anemia
disease Disease or Syndrome 208 0.300 limited 2 2011 2011
CUI: C1257931
Disease: Mammary Neoplasms, Human
Mammary Neoplasms, Human
group Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 475 0.300 2 2010 2012
CUI: C0547065
Disease: Mixed oligoastrocytoma
Mixed oligoastrocytoma
disease Neoplasms Neoplastic Process 32 0.300 1 2011 2011
CUI: C0334582
Disease: Fibrillary Astrocytoma
Fibrillary Astrocytoma
disease Neoplasms Neoplastic Process 32 0.300 1 2011 2011
CUI: C0334583
Disease: Pilocytic Astrocytoma
Pilocytic Astrocytoma
disease Neoplasms Neoplastic Process 121 3 0.300 1 2011 2011
CUI: C0007873
Disease: Uterine Cervical Neoplasm
Uterine Cervical Neoplasm
disease Female Urogenital Diseases and Pregnancy Complications; Neoplasms Neoplastic Process 123 4 0.300 1 2014 2014
CUI: C0521174
Disease: Microcalcification
Microcalcification
phenotype Nutritional and Metabolic Diseases Pathologic Function 40 0.300 1 2012 2012
CUI: C0338070
Disease: Childhood Cerebral Astrocytoma
Childhood Cerebral Astrocytoma
disease Neoplasms Neoplastic Process 26 0.300 1 2011 2011
CUI: C0280783
Disease: Juvenile Pilocytic Astrocytoma
Juvenile Pilocytic Astrocytoma
disease Neoplasms Neoplastic Process 36 1 0.300 1 2011 2011
CUI: C0007621
Disease: Neoplastic Cell Transformation
Neoplastic Cell Transformation
phenotype Neoplasms; Pathological Conditions, Signs and Symptoms Neoplastic Process 130 0.300 1 2012 2012
CUI: C0376634
Disease: Craniofacial Abnormalities
Craniofacial Abnormalities
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 186 4 0.300 1 2008 2008
CUI: C0009375
Disease: Colonic Neoplasms
Colonic Neoplasms
group Digestive System Diseases; Neoplasms Neoplastic Process 777 24 0.300 1 2009 2009
CUI: C0334581
Disease: Gemistocytic astrocytoma
Gemistocytic astrocytoma
disease Neoplasms Neoplastic Process 42 0.300 1 2011 2011
CUI: C0038002
Disease: Splenomegaly
Splenomegaly
phenotype Pathological Conditions, Signs and Symptoms Finding 246 3 0.300 1 2015 2015
CUI: C0334588
Disease: Giant Cell Glioblastoma
Giant Cell Glioblastoma
disease Neoplasms Neoplastic Process 77 1 0.300 1 2011 2011
CUI: C0040136
Disease: Thyroid Neoplasm
Thyroid Neoplasm
disease Endocrine System Diseases; Neoplasms Neoplastic Process 475 35 0.010 1 2007 2007
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases
group Digestive System Diseases Disease or Syndrome 910 451 0.100 1 1 2016 2016