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: C0025149
Disease: Medulloblastoma
Medulloblastoma
disease Neoplasms Neoplastic Process 589 66 0.400 0
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group Behavior and Behavior Mechanisms; Mental Disorders; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Mental or Behavioral Dysfunction 2502 53 0.400 limited 0
CUI: C0431350
Disease: Primary microcephaly
Primary microcephaly
disease Congenital Abnormality 115 9 0.300 strong 0
CUI: C0858252
Disease: Breast adenocarcinoma
Breast adenocarcinoma
disease Neoplastic Process 167 7 0.300 0
CUI: C0027708
Disease: Nephroblastoma
Nephroblastoma
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Neoplasms Neoplastic Process 370 33 0.300 0
CUI: C0007112
Disease: Adenocarcinoma of prostate
Adenocarcinoma of prostate
disease Neoplastic Process 215 96 0.300 0
Neoplasm of uncertain or unknown behavior of ovary
disease Neoplastic Process 34 0.300 0
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
disease Neoplasms Neoplastic Process 1702 215 0.300 0
Neoplasm of uncertain or unknown behavior of breast
disease Neoplastic Process 43 0.300 0
CUI: C0281361
Disease: Adenocarcinoma of pancreas
Adenocarcinoma of pancreas
disease Neoplastic Process 353 121 0.100 0
CUI: C1836735
Disease: hypopigmented skin patch
hypopigmented skin patch
phenotype Finding 72 0.100 0
CUI: C1262477
Disease: Weight decreased
Weight decreased
phenotype Pathological Conditions, Signs and Symptoms Finding 160 0.100 0
Pyridoxine-responsive sideroblastic anemia
disease Disease or Syndrome 22 0.100 0
CUI: C0221263
Disease: Cafe-au-Lait Spots
Cafe-au-Lait Spots
phenotype Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Finding 44 6 0.100 0
CUI: C0267963
Disease: Exocrine pancreatic insufficiency
Exocrine pancreatic insufficiency
disease Digestive System Diseases Disease or Syndrome 35 7 0.100 0
CUI: C0265974
Disease: Birthmark
Birthmark
phenotype Congenital Abnormality 43 0.100 0
CUI: C0232462
Disease: Decrease in appetite
Decrease in appetite
phenotype Sign or Symptom 31 0.100 0
CUI: C0232487
Disease: Abdominal discomfort
Abdominal discomfort
phenotype Sign or Symptom 137 0.100 0
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus
disease Congenital Abnormality 254 0.100 0
CUI: C2749463
Disease: Aplasia/Hypoplasia of the radius
Aplasia/Hypoplasia of the radius
phenotype Finding 36 0.100 0
CUI: C1514428
Disease: Primary peritoneal carcinoma
Primary peritoneal carcinoma
disease Neoplastic Process 28 0.100 0
CUI: C0281842
Disease: Abnormality of the fallopian tube
Abnormality of the fallopian tube
phenotype Anatomical Abnormality 15 0.100 0
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease Mental or Behavioral Dysfunction 1101 21 0.100 0
CUI: C0521525
Disease: Short neck
Short neck
phenotype Finding 203 1 0.100 0
CUI: C0518656
Disease: Chronic fatigue
Chronic fatigue
phenotype Finding 8 0.100 0