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.
CUI: C3469521
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
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 1.000 definitive 0.986 145 165 1996 2020
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 strong 0.978 135 64 1991 2020
CUI: C0406208
Disease: Suntan
Suntan 		phenotype Organ or Tissue Function 53 94 0.100 None 1.000 1 4 2018 2018
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		group Neoplasms Neoplastic Process 8621 1641 0.070 None 0.857 7 2 2005 2019
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		group Neoplasms Neoplastic Process 8221 1374 0.070 None 0.857 7 2 2005 2019
CUI: C0018498
Disease: Hair Color
Hair Color 		phenotype Organism Attribute 130 312 0.100 None 1.000 2 2 2010 2018
CUI: C0040420
Disease: Tonometry
Tonometry 		phenotype Diagnostic Procedure 206 573 0.100 None 1.000 3 1 2018 2018
CUI: C0027651
Disease: Neoplasms
Neoplasms 		group Neoplasms Neoplastic Process 10161 1644 0.030 None 1.000 3 1 2005 2019
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 507 248 0.110 None 1.000 2 1 2015 2018
CUI: C0025202
Disease: melanoma
melanoma 		disease Neoplasms Neoplastic Process 3087 515 0.020 None 1.000 2 1 2015 2018
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 6243 355 0.010 None 1.000 1 1 2012 2012
CUI: C0016689
Disease: Freckles
Freckles 		phenotype Skin and Connective Tissue Diseases Finding 45 10 0.100 None 1.000 1 1 2010 2010
CUI: C2242817
Disease: Homocysteine measurement
Homocysteine measurement 		phenotype Laboratory Procedure 23 33 0.100 None 1.000 1 1 2013 2013
CUI: C0025209
Disease: Melanosis
Melanosis 		disease Skin and Connective Tissue Diseases Disease or Syndrome 26 23 0.100 None 1.000 1 1 2010 2010
CUI: C0042900
Disease: Vitiligo
Vitiligo 		disease Skin and Connective Tissue Diseases Disease or Syndrome 395 249 0.100 None 1.000 1 1 2012 2012
CUI: C0153535
Disease: Malignant melanoma of skin of upper limb
Malignant melanoma of skin of upper limb 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 32 42 0.100 None 1.000 1 1 2018 2018
CUI: C0153536
Disease: Malignant melanoma of skin of lower limb
Malignant melanoma of skin of lower limb 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 32 42 0.100 None 1.000 1 1 2018 2018
CUI: C0037290
Disease: Skin Pigmentation
Skin Pigmentation 		phenotype Organ or Tissue Function 24 72 0.100 None 1.000 1 1 2018 2018
CUI: C1856797
Disease: Estren-Dameshek Variant of Fanconi Pancytopenia
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: C1856796
Disease: Estren-Dameshek Variant of Fanconi Anemia
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
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: 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: 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: 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