FANCB, FA complementation group B, 2187

N. diseases: 278; N. variants: 6
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: C1848599
Disease: VACTERL Association With Hydrocephalus
VACTERL Association With Hydrocephalus 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 5 7 0.620 strong 1.000 4 2004 2016
CUI: C1845292
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP B
FANCONI ANEMIA, COMPLEMENTATION GROUP B 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 1 4 0.600 None 1.000 5 4 2004 2016
CUI: C3463824
Disease: MYELODYSPLASTIC SYNDROME
MYELODYSPLASTIC SYNDROME 		group Hemic and Lymphatic Diseases Neoplastic Process 1033 95 0.500 strong 0.963 54 1984 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 0.480 strong 1.000 9 1 2002 2019
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		disease Neoplasms Neoplastic Process 3111 6892 0.400 strong 0.958 144 1982 2020
CUI: C0023465
Disease: Acute monocytic leukemia
Acute monocytic leukemia 		disease Neoplasms Neoplastic Process 633 22 0.400 strong 1.000 14 1983 2017
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 0.320 strong 0.667 3 1990 2017
CUI: C2931228
Disease: VACTERL ASSOCIATION, X-LINKED, WITH OR WITHOUT HYDROCEPHALUS
VACTERL ASSOCIATION, X-LINKED, WITH OR WITHOUT HYDROCEPHALUS 		disease Disease or Syndrome 2 0.300 strong 1.000 2 2004 2016
CUI: C2749240
Disease: Vater Association With Macrocephaly And Ventriculomegaly
Vater Association With Macrocephaly And Ventriculomegaly 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Musculoskeletal Diseases; Respiratory Tract Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 2 1 0.300 None 1.000 1 2011 2011
CUI: C0278996
Disease: Malignant Head and Neck Neoplasm
Malignant Head and Neck Neoplasm 		disease Neoplasms Neoplastic Process 767 118 0.300 strong 1.000 1 2011 2011
CUI: C0030312
Disease: Pancytopenia
Pancytopenia 		disease Hemic and Lymphatic Diseases Disease or Syndrome 253 15 0.300 strong 1.000 1 2017 2017
CUI: C3495676
Disease: Anorectal Malformations
Anorectal Malformations 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Anatomical Abnormality 112 6 0.300 strong 1.000 1 2016 2016
CUI: C1848600
Disease: Vater Association With Hydrocephalus
Vater Association With Hydrocephalus 		phenotype Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Musculoskeletal Diseases; Respiratory Tract Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 1 0.300 None 1.000 1 2011 2011
CUI: C4228778
Disease: Abnormality of radial ray
Abnormality of radial ray 		phenotype Finding 34 0.300 strong 1.000 1 2004 2004
CUI: C1855710
Disease: Bone marrow hypocellularity
Bone marrow hypocellularity 		phenotype Finding 64 5 0.300 strong 1.000 1 2017 2017
CUI: C3468041
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP C
FANCONI ANEMIA, COMPLEMENTATION GROUP C 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 22 73 0.300 strong 0
CUI: C0026985
Disease: Myelodysplasia
Myelodysplasia 		disease Congenital Abnormality 181 4 0.130 None 1.000 3 1990 2000
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus 		disease Nervous System Diseases Disease or Syndrome 473 37 0.110 None 1.000 1 2011 2011
CUI: C0002871
Disease: Anemia
Anemia 		disease Hemic and Lymphatic Diseases Disease or Syndrome 847 94 0.110 None 1.000 1 1999 1999
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 1293 222 0.100 None 1.000 21 1984 2009
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 757 47 0.100 None 0.889 18 1984 2012
CUI: C0023418
Disease: leukemia
leukemia 		disease Neoplasms Neoplastic Process 2111 144 0.100 None 0.941 17 1984 2019
CUI: C0023479
Disease: Acute myelomonocytic leukemia
Acute myelomonocytic leukemia 		disease Neoplasms Neoplastic Process 105 3 0.100 None 1.000 17 1984 2019
CUI: C1306759
Disease: Eosinophilic disorder
Eosinophilic disorder 		group Hemic and Lymphatic Diseases Disease or Syndrome 288 22 0.100 None 1.000 13 1987 2017
CUI: C0014457
Disease: Eosinophilia
Eosinophilia 		disease Hemic and Lymphatic Diseases Disease or Syndrome 325 23 0.100 None 1.000 13 1987 2017