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: C4551705
Disease: Abnormality of chromosome stability
Abnormality of chromosome stability
phenotype Cell or Molecular Dysfunction 34 1 0.100 None 0
CUI: C0085669
Disease: Acute leukemia
Acute leukemia
disease Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 639 50 0.100 None 0
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: C0023487
Disease: Acute Promyelocytic Leukemia
Acute Promyelocytic Leukemia
disease Neoplasms Neoplastic Process 651 21 0.020 None 1.000 2 1999 2000
CUI: C0001430
Disease: Adenoma
Adenoma
group Neoplasms Neoplastic Process 1183 103 0.020 None 1.000 2 2008 2015
CUI: C0032580
Disease: Adenomatous Polyposis Coli
Adenomatous Polyposis Coli
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms Neoplastic Process 609 237 0.020 None 1.000 2 2002 2015
CUI: C1332206
Disease: Adult Lymphoma
Adult Lymphoma
disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 1169 66 0.010 None 1.000 1 2002 2002
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
Agenesis of maxillary lateral incisor
phenotype Finding 5 1 0.100 None 0
CUI: C0001857
Disease: AIDS related complex
AIDS related complex
disease Infections; Immune System Diseases Disease or Syndrome 100 43 0.020 None 1.000 2 1 2013 2019
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: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 384 698 0.030 None 1.000 3 2004 2017
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis
disease Cardiovascular Diseases Disease or Syndrome 2044 281 0.010 None 1.000 1 2009 2009
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: C4275075
Disease: Atypical Werner syndrome
Atypical Werner syndrome
disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 4 4 0.010 None 1.000 1 2009 2009
Autosomal Recessive Primary Microcephaly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 33 99 0.010 None 1.000 1 2017 2017
CUI: C0004509
Disease: Azoospermia
Azoospermia
disease Male Urogenital Diseases Disease or Syndrome 254 70 0.100 None 0
CUI: C0521707
Disease: Bilateral cataracts (disorder)
Bilateral cataracts (disorder)
disease Eye Diseases Disease or Syndrome 166 37 0.010 None 1.000 1 1 2013 2013
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 2130 281 0.020 None 1.000 2 2009 2019
CUI: C0005859
Disease: Bloom Syndrome
Bloom Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases Disease or Syndrome 155 132 1.000 definitive 0.994 159 128 1994 2020
CUI: C0005890
Disease: Body Height
Body Height
phenotype Organism Attribute 1903 3972 0.100 None 1.000 1 1 2019 2019
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 183 91 0.020 None 1.000 2 2006 2014
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6776 2793 0.100 None 0.929 14 4 1997 2019