FANCD2, FA complementation group D2, 2177

N. diseases: 272; N. variants: 23
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: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6776 2793 0.100 None 1.000 15 2001 2019
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6941 3417 0.100 None 1.000 15 2001 2019
CUI: C0276496
Disease: Familial Alzheimer Disease (FAD)
Familial Alzheimer Disease (FAD)
disease Nervous System Diseases; Mental Disorders Disease or Syndrome 260 95 0.100 None 1.000 11 1988 2019
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 757 47 0.060 None 1.000 6 2007 2018
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 6243 355 0.040 None 1.000 4 2008 2017
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
group Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 2780 385 0.040 None 1.000 4 2006 2013
CUI: C0030312
Disease: Pancytopenia
Pancytopenia
disease Hemic and Lymphatic Diseases Disease or Syndrome 253 15 0.430 strong 0.750 4 2015 2019
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 5725 942 0.320 None 1.000 3 2010 2017
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 2001 2002
CUI: C0233794
Disease: Memory impairment
Memory impairment
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 763 48 0.030 None 1.000 3 2017 2019
CUI: C0023418
Disease: leukemia
leukemia
disease Neoplasms Neoplastic Process 2111 144 0.620 strong 1.000 3 2005 2017
CUI: C0017638
Disease: Glioma
Glioma
disease Neoplasms Neoplastic Process 3097 353 0.020 None 1.000 2 2012 2014
CUI: C0032131
Disease: Plasmacytoma
Plasmacytoma
disease Neoplasms; Immune System Diseases Neoplastic Process 142 8 0.020 None 1.000 2 2016 2019
CUI: C0750901
Disease: Alzheimer Disease, Early Onset
Alzheimer Disease, Early Onset
disease Nervous System Diseases; Mental Disorders Disease or Syndrome 174 96 0.020 None 1.000 2 1995 2005
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 1098 73 0.020 None 1.000 2 2003 2007
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
disease Neoplasms Neoplastic Process 3111 6892 0.510 strong 1.000 2 2005 2017
CUI: C0023473
Disease: Myeloid Leukemia, Chronic
Myeloid Leukemia, Chronic
disease Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process 1172 115 0.020 None 1.000 2 2010 2011
CUI: C0030193
Disease: Pain
Pain
phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 1554 196 0.020 None 0.500 2 2018 2018
CUI: C0338656
Disease: Impaired cognition
Impaired cognition
disease Mental Disorders Mental or Behavioral Dysfunction 1630 348 0.020 None 1.000 2 2019 2019
CUI: C0027765
Disease: nervous system disorder
nervous system disorder
group Nervous System Diseases Disease or Syndrome 977 39 0.020 None 1.000 2 2016 2019
Familial Alzheimer's disease of early onset
disease Nervous System Diseases; Mental Disorders Disease or Syndrome 14 33 0.020 None 1.000 2 1998 1999
CUI: C0542476
Disease: Forgetful
Forgetful
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Sign or Symptom 429 18 0.020 None 1.000 2 2017 2019
CUI: C1332977
Disease: Childhood Leukemia
Childhood Leukemia
disease Neoplasms Neoplastic Process 1740 140 0.020 None 1.000 2 2005 2015
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 2008 2017
CUI: C0302592
Disease: Cervix carcinoma
Cervix carcinoma
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process 1881 283 0.020 None 1.000 2 2017 2017