PALB2, partner and localizer of BRCA2, 79728

N. diseases: 260; N. variants: 410
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.
PANCREATIC CANCER, SUSCEPTIBILITY TO, 3
disease Finding 1 14 0.400 None 1.000 2 14 2007 2007
CUI: C0677861
Disease: Bilateral Malignant Neoplasm
Bilateral Malignant Neoplasm
disease Neoplasms Neoplastic Process 1 1 0.100 None 0 1
CUI: C4551489
Disease: Ureter duplex
Ureter duplex
disease Congenital Abnormality 1 1 0.100 None 0 1
CUI: C2827980
Disease: Stage IA Breast Cancer AJCC v7
Stage IA Breast Cancer AJCC v7
disease Neoplastic Process 2 0.010 None 1.000 1 2017 2017
Anatomic Stage IA Breast Cancer AJCC v8
disease Neoplastic Process 2 0.010 None 1.000 1 2017 2017
Prognostic Stage IA Breast Cancer AJCC v8
disease Neoplastic Process 2 0.010 None 1.000 1 2017 2017
CUI: C4724023
Disease: stage IA breast cancer
stage IA breast cancer
disease Neoplastic Process 2 0.010 None 1.000 1 2017 2017
CUI: C0266190
Disease: Congenital atresia of colon
Congenital atresia of colon
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Congenital Abnormality 2 3 0.100 None 0 1
CUI: C1332262
Disease: Anal canal squamous cell carcinoma
Anal canal squamous cell carcinoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 2 1 0.100 None 0 1
CUI: C1332549
Disease: Bilateral Carcinoma
Bilateral Carcinoma
phenotype Neoplasms Neoplastic Process 2 1 0.100 None 0 1
CUI: C4305467
Disease: Neuroendocrine tumor of pancreas
Neuroendocrine tumor of pancreas
disease Digestive System Diseases; Neoplasms; Endocrine System Diseases Neoplastic Process 2 2 0.100 None 0 1
FANCONI ANEMIA, COMPLEMENTATION GROUP N
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 4 13 0.710 definitive 1.000 6 13 2007 2018
CUI: C1842408
Disease: increased risk of pancreatic cancer
increased risk of pancreatic cancer
phenotype Neoplasms Finding 5 6 0.100 None 0 1
CUI: C1710547
Disease: Unilateral Breast Carcinoma
Unilateral Breast Carcinoma
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 7 2 0.010 None 1.000 1 2012 2012
CUI: C4018978
Disease: Unilateral Breast Neoplasms
Unilateral Breast Neoplasms
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 7 2 0.010 None 1.000 1 2012 2012
Hereditary Diffuse Gastric Adenocarcinoma
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms Neoplastic Process 8 4 0.010 None 1.000 1 2018 2018
CUI: C1387925
Disease: Abnormality of limbs
Abnormality of limbs
phenotype Anatomical Abnormality 8 1 0.100 None 0 1
CUI: C3639956
Disease: Functional intestinal obstruction
Functional intestinal obstruction
phenotype Digestive System Diseases Finding 8 0.100 None 0
Chromosomal breakage induced by crosslinking agents
phenotype Pathological Conditions, Signs and Symptoms Finding 8 0.100 None 0
CUI: C0267756
Disease: Abscess of peritoneum
Abscess of peritoneum
phenotype Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Infections Disease or Syndrome 9 0.100 None 0
CUI: C0948303
Disease: Carcinoma of peritoneum
Carcinoma of peritoneum
disease Neoplastic Process 10 0.010 None 1.000 1 2016 2016
CUI: C1969879
Disease: Limb joint contracture
Limb joint contracture
phenotype Finding 10 1 0.100 None 0 1
CUI: C3469522
Disease: BREAST CANCER, SUSCEPTIBILITY TO
BREAST CANCER, SUSCEPTIBILITY TO
phenotype Finding 11 24 0.100 None 0 8
Anatomic Stage IV Breast Cancer AJCC v8
disease Neoplastic Process 13 0.010 None 1.000 1 2017 2017
Prognostic Stage IV Breast Cancer AJCC v8
disease Neoplastic Process 13 0.010 None 1.000 1 2017 2017