FANCA, FA complementation group A, 2175

N. diseases: 211; N. variants: 206
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.
Estren-Dameshek Variant of Fanconi Anemia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 1 0.500 definitive 1.000 6 1996 2018
Estren-Dameshek Variant of Fanconi Pancytopenia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 1 0.500 definitive 1.000 6 1996 2018
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6941 3417 0.050 None 1.000 5 1999 2017
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6776 2793 0.050 None 1.000 5 1999 2017
CUI: C0030312
Disease: Pancytopenia
Pancytopenia
disease Hemic and Lymphatic Diseases Disease or Syndrome 253 15 0.420 strong 1.000 4 1996 2019
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
disease Neoplasms Neoplastic Process 3111 6892 0.530 strong 1.000 4 2002 2017
CUI: C1384666
Disease: hearing impairment
hearing impairment
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 740 337 0.400 strong 1.000 2 1996 2006
CUI: C0023465
Disease: Acute monocytic leukemia
Acute monocytic leukemia
disease Neoplasms Neoplastic Process 633 22 0.310 strong 1.000 2 2003 2017
CUI: C1855710
Disease: Bone marrow hypocellularity
Bone marrow hypocellularity
phenotype Finding 64 5 0.300 strong 1.000 2 1996 2006
CUI: C0280100
Disease: Solid Neoplasm
Solid Neoplasm
phenotype Neoplasms Neoplastic Process 1145 24 0.020 None 1.000 2 2015 2019
Growth retardation, pre- and postnatal
phenotype Finding 3 0.300 strong 1.000 2 1996 2006
CUI: C0025322
Disease: Premature Menopause
Premature Menopause
disease Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome 299 90 0.020 None 1.000 2 2014 2019
CUI: C0085215
Disease: Ovarian Failure, Premature
Ovarian Failure, Premature
disease Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Disease or Syndrome 333 115 0.020 None 1.000 2 2014 2019
CUI: C4721610
Disease: Carcinoma, Ovarian Epithelial
Carcinoma, Ovarian Epithelial
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Neoplastic Process 2841 327 0.020 None 1.000 2 2005 2015
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 1098 73 0.020 None 0.500 2 2005 2011
Malignant neoplasm of urinary bladder
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 2113 316 0.310 None 1.000 2 2009 2013
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 2130 281 0.310 None 1.000 2 2009 2013
CUI: C0280474
Disease: Childhood Glioblastoma
Childhood Glioblastoma
disease Neoplasms Neoplastic Process 2527 98 0.010 None 1.000 1 2019 2019
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: C0334586
Disease: Pleomorphic Xanthoastrocytoma
Pleomorphic Xanthoastrocytoma
disease Neoplasms Neoplastic Process 42 8 0.010 None 1.000 1 2019 2019
CUI: C0341869
Disease: Subfertility, Female
Subfertility, Female
disease Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome 33 1 0.010 None 1.000 1 2019 2019
CUI: C0030297
Disease: Pancreatic Neoplasm
Pancreatic Neoplasm
disease Digestive System Diseases; Neoplasms; Endocrine System Diseases Neoplastic Process 764 20 0.010 None 1.000 1 2004 2004
CUI: C0362046
Disease: Prediabetes syndrome
Prediabetes syndrome
disease Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 205 16 0.010 None 1.000 1 2018 2018
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate
disease Neoplasms; Male Urogenital Diseases Neoplastic Process 4502 1082 0.010 None 1.000 1 2015 2015
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 183 91 0.010 None < 0.001 1 2019 2019