PALB2, partner and localizer of BRCA2, 79728

N. diseases: 122; N. variants: 253
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.
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
disease Disease or Syndrome 248 57 0.100 1.000 19 2007 2018
CUI: C0029925
Disease: Ovarian Carcinoma
Ovarian Carcinoma
disease Neoplastic Process 2202 316 0.390 0.778 9 2 2008 2015
Hereditary non-polyposis colorectal cancer syndrome
disease Congenital Abnormality 27 0.300 limited 7 2013 2018
CUI: C3469522
Disease: BREAST CANCER, SUSCEPTIBILITY TO
BREAST CANCER, SUSCEPTIBILITY TO
phenotype Finding 7 15 0.100 6 7 2007 2015
CUI: C1333600
Disease: Hereditary Malignant Neoplasm
Hereditary Malignant Neoplasm
group Neoplastic Process 61 17 0.140 1.000 4 1 2013 2018
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
group Neoplastic Process 1031 34 0.030 1.000 3 2017 2018
CUI: C0007104
Disease: Female Breast Carcinoma
Female Breast Carcinoma
disease Neoplastic Process 48 6 0.020 1.000 2 2011 2015
CUI: C0010828
Disease: Cytopenia
Cytopenia
phenotype Pathologic Function 206 0.300 strong 2 2007 2007
CUI: C0158995
Disease: Congenital anemia
Congenital anemia
disease Disease or Syndrome 208 0.300 strong 2 2007 2007
CUI: C0235653
Disease: Malignant neoplasm of female breast
Malignant neoplasm of female breast
disease Neoplastic Process 50 6 0.020 1.000 2 2011 2015
CUI: C0242787
Disease: Malignant neoplasm of male breast
Malignant neoplasm of male breast
disease Neoplastic Process 45 19 0.020 1.000 2 2011 2012
CUI: C0278704
Disease: Malignant Childhood Neoplasm
Malignant Childhood Neoplasm
group Neoplastic Process 86 21 0.020 1.000 2 2007 2014
PANCREATIC CANCER, SUSCEPTIBILITY TO, 3
phenotype Finding 1 11 0.100 2 11 2009 2015
CUI: C4025414
Disease: Radial club hand
Radial club hand
disease Congenital Abnormality 58 0.300 strong 2 2007 2007
CUI: C0281267
Disease: bilateral breast cancer
bilateral breast cancer
disease Neoplastic Process 23 5 0.010 1.000 1 2011 2011
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma
disease Neoplastic Process 3144 756 0.010 1.000 1 1 2008 2008
CUI: C0853879
Disease: Invasive carcinoma of breast
Invasive carcinoma of breast
disease Neoplastic Process 384 9 0.010 1.000 1 2011 2011
CUI: C1096616
Disease: Contralateral breast cancer
Contralateral breast cancer
disease Neoplastic Process 13 4 0.010 1.000 1 2012 2012
CUI: C1335302
Disease: Pancreatic Ductal Adenocarcinoma
Pancreatic Ductal Adenocarcinoma
disease Neoplastic Process 700 25 0.010 1.000 1 2013 2013
CUI: C1512981
Disease: Mammary Tumorigenesis
Mammary Tumorigenesis
phenotype Neoplastic Process 175 5 0.010 1.000 1 2014 2014
CUI: C1710547
Disease: Unilateral Breast Carcinoma
Unilateral Breast Carcinoma
disease Neoplastic Process 6 1 0.010 1.000 1 2012 2012
CUI: C0007112
Disease: Adenocarcinoma of prostate
Adenocarcinoma of prostate
disease Neoplastic Process 215 96 0.300 0
CUI: C0025362
Disease: Mental Retardation
Mental Retardation
disease Mental or Behavioral Dysfunction 1157 29 0.100 0
CUI: C0030293
Disease: Pancreatic Insufficiency
Pancreatic Insufficiency
disease Disease or Syndrome 29 6 0.100 0
CUI: C0232462
Disease: Decrease in appetite
Decrease in appetite
phenotype Sign or Symptom 31 0.100 0