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: C0700208
Disease: Acquired scoliosis
Acquired scoliosis
phenotype Acquired Abnormality 417 8 0.100 0
CUI: C0040588
Disease: Tracheoesophageal Fistula
Tracheoesophageal Fistula
phenotype Digestive System Diseases; Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases Anatomical Abnormality 46 0.100 0
CUI: C0281842
Disease: Abnormality of the fallopian tube
Abnormality of the fallopian tube
phenotype Anatomical Abnormality 15 0.100 0
CUI: C0376628
Disease: Chromosome Breakage
Chromosome Breakage
phenotype Pathological Conditions, Signs and Symptoms Cell or Molecular Dysfunction 43 0.100 0
Hereditary non-polyposis colorectal cancer syndrome
disease Congenital Abnormality 27 0.300 limited 7 2013 2018
CUI: C4025414
Disease: Radial club hand
Radial club hand
disease Congenital Abnormality 58 0.300 strong 2 2007 2007
CUI: C0014850
Disease: Esophageal Atresia
Esophageal Atresia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Congenital Abnormality 34 3 0.100 0
CUI: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects
group Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 225 20 0.100 0
CUI: C0265974
Disease: Birthmark
Birthmark
phenotype Congenital Abnormality 43 0.100 0
CUI: C0431350
Disease: Primary microcephaly
Primary microcephaly
disease Congenital Abnormality 115 9 0.300 strong 0
CUI: C0431890
Disease: Hypoplasia of thumb
Hypoplasia of thumb
disease Musculoskeletal Diseases Congenital Abnormality 39 0.100 0
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus
disease Congenital Abnormality 254 0.100 0
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 289 91 0.500 1.000 25 1 2007 2018
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
disease Disease or Syndrome 248 57 0.100 1.000 19 2007 2018
FANCONI ANEMIA, COMPLEMENTATION GROUP N
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 4 11 0.410 1.000 5 11 2007 2015
CUI: C0158995
Disease: Congenital anemia
Congenital anemia
disease Disease or Syndrome 208 0.300 strong 2 2007 2007
CUI: C0006145
Disease: Breast Diseases
Breast Diseases
group Skin and Connective Tissue Diseases Disease or Syndrome 50 5 0.010 1.000 1 2009 2009
CUI: C0033036
Disease: Atrial Premature Complexes
Atrial Premature Complexes
disease Cardiovascular Diseases; Pathological Conditions, Signs and Symptoms Disease or Syndrome 105 9 0.010 1.000 1 2016 2016
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: C0002874
Disease: Aplastic Anemia
Aplastic Anemia
disease Hemic and Lymphatic Diseases Disease or Syndrome 154 33 0.100 0
CUI: C0003123
Disease: Anorexia
Anorexia
disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 117 3 0.100 0
CUI: C0005398
Disease: Cholestasis, Extrahepatic
Cholestasis, Extrahepatic
disease Digestive System Diseases Disease or Syndrome 60 0.100 0
CUI: C0021847
Disease: Intestinal Pseudo-Obstruction
Intestinal Pseudo-Obstruction
disease Digestive System Diseases Disease or Syndrome 23 5 0.100 0
CUI: C0023530
Disease: Leukopenia
Leukopenia
disease Hemic and Lymphatic Diseases Disease or Syndrome 245 63 0.100 0
CUI: C0030293
Disease: Pancreatic Insufficiency
Pancreatic Insufficiency
disease Disease or Syndrome 29 6 0.100 0