NBN, nibrin, 4683

N. diseases: 214; N. variants: 106
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.
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
phenotype Finding 3 1995 0.100 11 1 1998 2008
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma
disease Neoplastic Process 3144 756 0.060 0.833 6 2 2004 2015
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung
disease Neoplastic Process 2475 735 0.060 1.000 6 6 2006 2018
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung
disease Neoplastic Process 2267 400 0.060 1.000 6 6 2006 2018
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia
disease Neoplastic Process 906 99 0.140 1.000 5 7 2004 2015
CUI: C0029925
Disease: Ovarian Carcinoma
Ovarian Carcinoma
disease Neoplastic Process 2202 316 0.030 1.000 3 2014 2016
CUI: C1333600
Disease: Hereditary Malignant Neoplasm
Hereditary Malignant Neoplasm
group Neoplastic Process 61 17 0.030 0.667 3 2009 2016
CUI: C1336076
Disease: Sporadic Breast Carcinoma
Sporadic Breast Carcinoma
disease Neoplastic Process 158 37 0.030 1.000 3 2006 2013
CUI: C0010828
Disease: Cytopenia
Cytopenia
phenotype Pathologic Function 206 0.300 strong 2 2001 2004
CUI: C0158995
Disease: Congenital anemia
Congenital anemia
disease Disease or Syndrome 208 0.300 strong 2 2001 2004
CUI: C0278488
Disease: Carcinoma breast stage IV
Carcinoma breast stage IV
disease Neoplastic Process 391 7 0.020 1.000 2 2014 2015
CUI: C0431350
Disease: Primary microcephaly
Primary microcephaly
disease Congenital Abnormality 115 9 0.300 strong 2 1993 1998
CUI: C0595989
Disease: Carcinoma of larynx
Carcinoma of larynx
disease Neoplastic Process 176 25 0.020 1.000 2 2 2012 2014
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma
disease Neoplastic Process 2377 364 0.020 1.000 2 2 2015 2016
CUI: C0699885
Disease: Carcinoma of bladder
Carcinoma of bladder
disease Neoplastic Process 1161 165 0.020 1.000 2 3 2012 2015
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
disease Disease or Syndrome 248 57 0.020 1.000 2 2002 2009
CUI: C0007103
Disease: Malignant neoplasm of endometrium
Malignant neoplasm of endometrium
disease Neoplastic Process 576 106 0.010 1.000 1 2015 2015
CUI: C0085669
Disease: Acute leukemia
Acute leukemia
disease Neoplastic Process 491 26 0.010 1.000 1 2008 2008
Liver and Intrahepatic Biliary Tract Carcinoma
disease Neoplastic Process 606 18 0.010 1.000 1 2012 2012
CUI: C0280100
Disease: Solid Neoplasm
Solid Neoplasm
phenotype Neoplastic Process 839 9 0.010 1.000 1 2009 2009
CUI: C0280451
Disease: de novo myelodysplastic syndromes
de novo myelodysplastic syndromes
disease Neoplastic Process 16 4 0.010 1.000 1 2014 2014
CUI: C0281267
Disease: bilateral breast cancer
bilateral breast cancer
disease Neoplastic Process 23 5 0.010 1.000 1 2006 2006
HODGKIN'S AND NON-HODGKIN'S LYMPHOMA
disease Neoplastic Process 10 2 0.010 1.000 1 2003 2003
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder)
disease Mental or Behavioral Dysfunction 192 24 0.010 1.000 1 1 2006 2006
CUI: C0424688
Disease: Small head
Small head
phenotype Finding 569 57 0.100 1 1 2015 2015