BLM, BLM RecQ like helicase, 641

N. diseases: 158; N. variants: 139
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: C0699885
Disease: Carcinoma of bladder
Carcinoma of bladder
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 2104 309 0.020 None 1.000 2 2009 2019
CUI: C1333600
Disease: Hereditary Malignant Neoplasm
Hereditary Malignant Neoplasm
disease Neoplasms Neoplastic Process 63 18 0.020 None 1.000 2 2001 2005
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
disease Nervous System Diseases; Mental Disorders Disease or Syndrome 3397 1843 0.010 None 1.000 1 2013 2013
CUI: C0003850
Disease: Arteriosclerosis
Arteriosclerosis
disease Cardiovascular Diseases Disease or Syndrome 2006 267 0.010 None 1.000 1 2009 2009
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis
disease Cardiovascular Diseases Disease or Syndrome 2044 281 0.010 None 1.000 1 2009 2009
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon
disease Digestive System Diseases; Neoplasms Neoplastic Process 2969 688 0.010 None 1.000 1 2007 2007
CUI: C0007103
Disease: Malignant neoplasm of endometrium
Malignant neoplasm of endometrium
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process 1235 197 0.010 None 1.000 1 2017 2017
CUI: C0007113
Disease: Rectal Carcinoma
Rectal Carcinoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 472 112 0.010 None 1.000 1 1 2010 2010
CUI: C0007115
Disease: Malignant neoplasm of thyroid
Malignant neoplasm of thyroid
disease Neoplasms; Endocrine System Diseases Neoplastic Process 949 103 0.010 None 1.000 1 2016 2016
CUI: C0007766
Disease: Intracranial Aneurysm
Intracranial Aneurysm
disease Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 311 150 0.010 None 1.000 1 2017 2017
CUI: C0009207
Disease: Cockayne Syndrome
Cockayne Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 85 11 0.010 None 1.000 1 2009 2009
CUI: C0011644
Disease: Scleroderma
Scleroderma
disease Skin and Connective Tissue Diseases Disease or Syndrome 316 5 0.010 None 1.000 1 2015 2015
CUI: C0015674
Disease: Chronic Fatigue Syndrome
Chronic Fatigue Syndrome
disease Infections; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 118 14 0.010 None 1.000 1 2018 2018
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia
disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 1293 222 0.300 strong 1.000 1 2017 2017
CUI: C0023465
Disease: Acute monocytic leukemia
Acute monocytic leukemia
disease Neoplasms Neoplastic Process 633 22 0.300 strong 1.000 1 2017 2017
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
disease Neoplasms Neoplastic Process 3111 6892 0.300 strong 1.000 1 2017 2017
CUI: C0024305
Disease: Lymphoma, Non-Hodgkin
Lymphoma, Non-Hodgkin
disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 733 197 0.010 None 1.000 1 2009 2009
CUI: C0024419
Disease: Waldenstrom Macroglobulinemia
Waldenstrom Macroglobulinemia
disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases Neoplastic Process 162 15 0.010 None 1.000 1 2014 2014
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma
disease Neoplasms Neoplastic Process 2509 386 0.010 None 1.000 1 2016 2016
CUI: C0033036
Disease: Atrial Premature Complexes
Atrial Premature Complexes
disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 183 21 0.010 None 1.000 1 2002 2002
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 234 368 0.010 None 1.000 1 2002 2002
CUI: C0040136
Disease: Thyroid Neoplasm
Thyroid Neoplasm
disease Neoplasms; Endocrine System Diseases Neoplastic Process 1164 135 0.010 None 1.000 1 2016 2016
CUI: C0040188
Disease: Tic disorder
Tic disorder
disease Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction 33 4 0.010 None 1.000 1 2015 2015
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 507 248 0.010 None 1.000 1 2017 2017
CUI: C0220605
Disease: Adult Non-Hodgkin Lymphoma
Adult Non-Hodgkin Lymphoma
disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 370 39 0.010 None 1.000 1 2009 2009