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.
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms Neoplastic Process 76 4866 0.100 90 188 2007 2018
Hereditary Nonpolyposis Colorectal Neoplasms
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases Neoplastic Process 39 344 0.300 limited 7 2013 2018
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: C0033578
Disease: Prostatic Neoplasms
Prostatic Neoplasms
group Male Urogenital Diseases; Neoplasms Neoplastic Process 1553 25 0.320 3 2007 2018
CUI: C1861906
Disease: Breast Cancer, Familial Male
Breast Cancer, Familial Male
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 12 111 0.300 3 1 2007 2017
CUI: C0376545
Disease: Hematologic Neoplasms
Hematologic Neoplasms
group Hemic and Lymphatic Diseases; Neoplasms Neoplastic Process 556 37 0.300 strong 2 2017 2017
CUI: C4025414
Disease: Radial club hand
Radial club hand
disease Congenital Abnormality 58 0.300 strong 2 2007 2007
PANCREATIC CANCER, SUSCEPTIBILITY TO, 3
phenotype Finding 1 11 0.100 2 11 2009 2015
CUI: C0158995
Disease: Congenital anemia
Congenital anemia
disease Disease or Syndrome 208 0.300 strong 2 2007 2007
CUI: C0010828
Disease: Cytopenia
Cytopenia
phenotype Pathologic Function 206 0.300 strong 2 2007 2007
CUI: C1257931
Disease: Mammary Neoplasms, Human
Mammary Neoplasms, Human
group Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 475 0.300 1 2017 2017
Esophageal atresia with or without tracheoesophageal fistula
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases Disease or Syndrome 27 8 0.400 1 2 2015 2015
CUI: C0424688
Disease: Small head
Small head
phenotype Finding 569 57 0.100 0
CUI: C0521525
Disease: Short neck
Short neck
phenotype Finding 203 1 0.100 0
CUI: C0281361
Disease: Adenocarcinoma of pancreas
Adenocarcinoma of pancreas
disease Neoplastic Process 353 121 0.100 0
CUI: C0518656
Disease: Chronic fatigue
Chronic fatigue
phenotype Finding 8 0.100 0
CUI: C0281842
Disease: Abnormality of the fallopian tube
Abnormality of the fallopian tube
phenotype Anatomical Abnormality 15 0.100 0
CUI: C0349588
Disease: Short stature
Short stature
phenotype Finding 749 36 0.100 0
CUI: C0497156
Disease: Lymphadenopathy
Lymphadenopathy
group Hemic and Lymphatic Diseases Disease or Syndrome 90 0.100 0
CUI: C0376628
Disease: Chromosome Breakage
Chromosome Breakage
phenotype Pathological Conditions, Signs and Symptoms Cell or Molecular Dysfunction 43 0.100 0
Neoplasm of uncertain or unknown behavior of breast
disease Neoplastic Process 43 0.300 0
Neoplasm of uncertain or unknown behavior of ovary
disease Neoplastic Process 34 0.300 0
CUI: C0392386
Disease: Decreased platelet count
Decreased platelet count
phenotype Finding 151 0.100 0
CUI: C0431890
Disease: Hypoplasia of thumb
Hypoplasia of thumb
disease Musculoskeletal Diseases Congenital Abnormality 39 0.100 0