FANCL, FA complementation group L, 55120

N. diseases: 137; N. variants: 16
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: C0015625
Disease: Fanconi Anemia
Fanconi Anemia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 394 173 0.700 None 1.000 28 11 2003 2020
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 360 194 0.100 None 1.000 19 1 2003 2020
FANCONI ANEMIA, COMPLEMENTATION GROUP L
disease Disease or Syndrome 2 4 0.610 None 1.000 10 4 2003 2017
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia
disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 1293 222 0.030 None 1.000 3 1990 2015
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6941 3417 0.020 None 1.000 2 2009 2016
Childhood Acute Lymphoblastic Leukemia
disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 1096 261 0.020 None 1.000 2 1990 2015
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
disease Neoplasms Neoplastic Process 3111 6892 0.310 strong 1.000 2 1999 2017
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6776 2793 0.020 None 1.000 2 2009 2016
CUI: C0751606
Disease: Adult Acute Lymphocytic Leukemia
Adult Acute Lymphocytic Leukemia
disease Neoplastic Process 860 154 0.020 None 1.000 2 1990 2015
FANCONI ANEMIA, COMPLEMENTATION GROUP D2
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 19 7 0.020 None 1.000 2 2011 2017
CUI: C0007847
Disease: Malignant tumor of cervix
Malignant tumor of cervix
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process 1718 245 0.010 None < 0.001 1 2011 2011
CUI: C0023418
Disease: leukemia
leukemia
disease Neoplasms Neoplastic Process 2111 144 0.010 None 1.000 1 2008 2008
CUI: C0023465
Disease: Acute monocytic leukemia
Acute monocytic leukemia
disease Neoplasms Neoplastic Process 633 22 0.300 strong 1.000 1 2017 2017
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma
disease Neoplasms Neoplastic Process 2509 386 0.010 None 1.000 1 2000 2000
CUI: C0030312
Disease: Pancytopenia
Pancytopenia
disease Hemic and Lymphatic Diseases Disease or Syndrome 253 15 0.300 strong 1.000 1 2017 2017
CUI: C0085669
Disease: Acute leukemia
Acute leukemia
disease Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 639 50 0.010 None 1.000 1 2008 2008
CUI: C0238033
Disease: Carcinoma of Male Breast
Carcinoma of Male Breast
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 87 38 0.010 None 1.000 1 2018 2018
CUI: C0242787
Disease: Malignant neoplasm of male breast
Malignant neoplasm of male breast
disease Neoplasms; Skin and Connective Tissue Diseases; Endocrine System Diseases Neoplastic Process 75 43 0.010 None 1.000 1 2018 2018
CUI: C0265219
Disease: Miller Dieker syndrome
Miller Dieker syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 182 9 0.300 strong 1.000 1 2017 2017
CUI: C0302592
Disease: Cervix carcinoma
Cervix carcinoma
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process 1881 283 0.010 None < 0.001 1 2011 2011
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 183 91 0.010 None 1.000 1 2009 2009
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma
disease Neoplasms; Nervous System Diseases Neoplastic Process 2419 231 0.010 None 1.000 1 2000 2000
Squamous cell carcinoma of the head and neck
disease Neoplasms Neoplastic Process 1543 348 0.010 None 1.000 1 2017 2017
CUI: C1336076
Disease: Sporadic Breast Carcinoma
Sporadic Breast Carcinoma
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 184 46 0.010 None 1.000 1 2009 2009
CUI: C1735591
Disease: VACTERL Association
VACTERL Association
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Cardiovascular Diseases Congenital Abnormality 15 0.010 None 1.000 1 2015 2015