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.
CUI: C1842408
Disease: increased risk of pancreatic cancer
increased risk of pancreatic cancer
phenotype Neoplasms Finding 5 6 0.100 None 0 1
CUI: C1262477
Disease: Weight decreased
Weight decreased
phenotype Pathological Conditions, Signs and Symptoms Finding 271 3 0.100 None 0
CUI: C0858252
Disease: Breast adenocarcinoma
Breast adenocarcinoma
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 219 7 0.300 None 0
CUI: C0848558
Disease: Hypospadias
Hypospadias
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Congenital Abnormality 366 80 0.100 None 0
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus
disease Congenital Abnormality 417 30 0.100 None 0
CUI: C0677861
Disease: Bilateral Malignant Neoplasm
Bilateral Malignant Neoplasm
disease Neoplasms Neoplastic Process 1 1 0.100 None 0 1
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease Mental or Behavioral Dysfunction 1825 553 0.100 None 0
CUI: C0544886
Disease: Somatic mutation
Somatic mutation
phenotype Cell or Molecular Dysfunction 151 0.100 None 0
CUI: C0542518
Disease: Enlarged kidney
Enlarged kidney
phenotype Finding 27 2 0.100 None 0 1
CUI: C0521620
Disease: Dilatation of ureter
Dilatation of ureter
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Anatomical Abnormality 72 2 0.100 None 0
CUI: C1306503
Disease: Congenital exomphalos
Congenital exomphalos
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 235 0.100 None 0
CUI: C1306710
Disease: Facial asymmetry
Facial asymmetry
phenotype Pathological Conditions, Signs and Symptoms Finding 109 13 0.100 None 0
CUI: C1319315
Disease: Adenocarcinoma of large intestine
Adenocarcinoma of large intestine
disease Digestive System Diseases; Neoplasms Neoplastic Process 543 432 0.100 None 0 1
CUI: C1836735
Disease: hypopigmented skin patch
hypopigmented skin patch
phenotype Skin and Connective Tissue Diseases Finding 123 2 0.100 None 0
CUI: C1691215
Disease: Penile hypospadias
Penile hypospadias
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Congenital Abnormality 127 83 0.100 None 0 1
CUI: C1565489
Disease: Renal Insufficiency
Renal Insufficiency
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 615 42 0.100 None 0
CUI: C1531647
Disease: Cerebral ventriculomegaly
Cerebral ventriculomegaly
phenotype Nervous System Diseases Finding 410 0.100 None 0
CUI: C1514428
Disease: Primary peritoneal carcinoma
Primary peritoneal carcinoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 49 0.100 None 0
CUI: C1387925
Disease: Abnormality of limbs
Abnormality of limbs
phenotype Anatomical Abnormality 8 1 0.100 None 0 1
CUI: C1384666
Disease: hearing impairment
hearing impairment
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 740 337 0.100 None 0 1
CUI: C1332549
Disease: Bilateral Carcinoma
Bilateral Carcinoma
phenotype Neoplasms Neoplastic Process 2 1 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: C0521525
Disease: Short neck
Short neck
phenotype Finding 288 29 0.100 None 0
CUI: C0518656
Disease: Chronic fatigue
Chronic fatigue
phenotype Pathological Conditions, Signs and Symptoms Finding 17 2 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