BACE2, beta-secretase 2, 25825

N. diseases: 54; N. variants: 6
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: C0001430
Disease: Adenoma
Adenoma 		group Neoplasms Neoplastic Process 1183 103 0.010 None 1.000 1 2004 2004
CUI: C1302401
Disease: Adenoma of large intestine
Adenoma of large intestine 		disease Digestive System Diseases; Neoplasms Neoplastic Process 452 213 0.010 None 1.000 1 2004 2004
CUI: C0393591
Disease: AICARDI-GOUTIERES SYNDROME
AICARDI-GOUTIERES SYNDROME 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Nervous System Diseases Disease or Syndrome 117 12 0.010 None 1.000 1 1998 1998
CUI: C0750901
Disease: Alzheimer Disease, Early Onset
Alzheimer Disease, Early Onset 		disease Nervous System Diseases; Mental Disorders Disease or Syndrome 174 96 0.010 None 1.000 1 1997 1997
CUI: C0494463
Disease: Alzheimer Disease, Late Onset
Alzheimer Disease, Late Onset 		disease Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction 385 243 0.020 None 1.000 2 2005 2019
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		disease Nervous System Diseases; Mental Disorders Disease or Syndrome 3397 1843 0.100 None 0.909 22 1 2000 2019
CUI: C0002726
Disease: Amyloidosis
Amyloidosis 		disease Nutritional and Metabolic Diseases Disease or Syndrome 694 93 0.010 None 1.000 1 2012 2012
CUI: C1853666
Disease: Anemia, Diamond-Blackfan, 2
Anemia, Diamond-Blackfan, 2 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 8 0.010 None 1.000 1 1998 1998
CUI: C1305855
Disease: Body mass index
Body mass index 		phenotype Clinical Attribute 1014 2689 0.100 None 1.000 2 3 2019 2019
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6776 2793 0.030 None 0.667 3 2000 2018
CUI: C1332986
Disease: Childhood Osteosarcoma
Childhood Osteosarcoma 		disease Neoplasms Neoplastic Process 2208 151 0.010 None 1.000 1 2019 2019
CUI: C4511608
Disease: Chronic cerebrospinal venous insufficiency
Chronic cerebrospinal venous insufficiency 		disease Disease or Syndrome 2 0.010 None 1.000 1 2015 2015
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma 		disease Digestive System Diseases; Neoplasms Neoplastic Process 2832 275 0.010 None 1.000 1 2000 2000
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 669 77 0.050 None 0.800 5 2000 2014
CUI: C0497327
Disease: Dementia
Dementia 		disease Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction 816 176 0.010 None 1.000 1 2014 2014
CUI: C0011847
Disease: Diabetes
Diabetes 		disease Endocrine System Diseases Disease or Syndrome 2359 710 0.010 None 1.000 1 2019 2019
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		group Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 2803 824 0.010 None 1.000 1 2019 2019
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		disease Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 3134 2672 0.030 None 1.000 3 2015 2017
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 766 80 0.050 None 0.800 5 2000 2014
CUI: C1860787
Disease: DOWN SYNDROME CRITICAL REGION
DOWN SYNDROME CRITICAL REGION 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 57 0.020 None 1.000 2 2005 2010
CUI: C0856169
Disease: Endothelial dysfunction
Endothelial dysfunction 		phenotype Disease or Syndrome 716 25 0.010 None 1.000 1 2015 2015
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Disease or Syndrome 384 162 0.010 None 1.000 1 2018 2018
CUI: C3888239
Disease: HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1
HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1 		disease Finding 12 52 0.300 limited 0
CUI: C0020459
Disease: Hyperinsulinism
Hyperinsulinism 		disease Nutritional and Metabolic Diseases Disease or Syndrome 620 64 0.010 None 1.000 1 2011 2011
CUI: C0162835
Disease: Hypopigmentation disorder
Hypopigmentation disorder 		disease Skin and Connective Tissue Diseases Disease or Syndrome 126 15 0.010 None 1.000 1 2018 2018