PALB2, partner and localizer of BRCA2, 79728

N. diseases: 260; N. variants: 410
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0000737
Disease: Abdominal Pain
Abdominal Pain
0.100 Biomarker phenotype HPO
CUI: C4025756
Disease: Abnormal aortic morphology
Abnormal aortic morphology
0.100 Biomarker disease HPO
CUI: C4025211
Disease: Abnormal carotid artery morphology
Abnormal carotid artery morphology
0.100 Biomarker disease HPO
CUI: C4020968
Disease: Abnormal localization of kidney
Abnormal localization of kidney
0.100 Biomarker disease HPO
CUI: C3164445
Disease: Abnormality of aortic valve
Abnormality of aortic valve
0.100 Biomarker disease HPO
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology
0.100 CausalMutation phenotype CLINVAR
CUI: C4551705
Disease: Abnormality of chromosome stability
Abnormality of chromosome stability
0.100 Biomarker phenotype HPO
CUI: C4021750
Disease: Abnormality of femur morphology
Abnormality of femur morphology
0.100 Biomarker disease HPO
CUI: C1387925
Disease: Abnormality of limbs
Abnormality of limbs
0.100 CausalMutation phenotype CLINVAR
CUI: C4228778
Disease: Abnormality of radial ray
Abnormality of radial ray
0.300 Biomarker phenotype GENOMICS_ENGLAND Fanconi anemia is associated with a defect in the BRCA2 partner PALB2. 17200672 2007
CUI: C4025871
Disease: Abnormality of the face
Abnormality of the face
0.100 CausalMutation phenotype CLINVAR
CUI: C0281842
Disease: Abnormality of the fallopian tube
Abnormality of the fallopian tube
0.100 Biomarker phenotype HPO
Abnormality of the hypothalamus-pituitary axis
0.100 Biomarker disease HPO
CUI: C4021780
Disease: Abnormality of the liver
Abnormality of the liver
0.100 Biomarker phenotype HPO
CUI: C1846460
Disease: Abnormality of the outer ear
Abnormality of the outer ear
0.100 Biomarker disease HPO
CUI: C4022016
Disease: Abnormality of the preputium
Abnormality of the preputium
0.100 Biomarker disease HPO
CUI: C0267756
Disease: Abscess of peritoneum
Abscess of peritoneum
0.100 Biomarker phenotype HPO
CUI: C0342526
Disease: Absent testes
Absent testes
0.100 Biomarker phenotype HPO
CUI: C0023465
Disease: Acute monocytic leukemia
Acute monocytic leukemia
0.300 Biomarker disease GENOMICS_ENGLAND Germline Genetic Predisposition to Hematologic Malignancy. 28297620 2017
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma
0.010 AlteredExpression group BEFREE In 177 patients with NSCLC (who had a median age of 62 years and included 140 men and 91 patients with adenocarcinoma), only high PALB2 mRNA expression was predictive in the progression-free survival Cox regression analysis (hazard ratio = 0.63, 95% confidence interval: 0.42-0.83, p = 0.0080). 30472259 2019
CUI: C1319315
Disease: Adenocarcinoma of large intestine
Adenocarcinoma of large intestine
0.100 CausalMutation disease CLINVAR
CUI: C0281361
Disease: Adenocarcinoma of pancreas
Adenocarcinoma of pancreas
0.120 GeneticVariation disease BEFREE Moreover, as we began the observation of these families from probands who are affected by PC, we provide here a direct assessment of the role of PALB2 and BRCA mutations in PC susceptibility. 21989927 2012
CUI: C0281361
Disease: Adenocarcinoma of pancreas
Adenocarcinoma of pancreas
0.120 GeneticVariation disease BEFREE This single arm, non-randomised, multicentre phase II trial evaluated the response rate of veliparib in patients with previously treated BRCA1/2- or PALB2-mutant pancreatic adenocarcinoma (PDAC). 29223478 2018
CUI: C0281361
Disease: Adenocarcinoma of pancreas
Adenocarcinoma of pancreas
0.120 Biomarker disease HPO
CUI: C0007112
Disease: Adenocarcinoma of prostate
Adenocarcinoma of prostate
0.300 CausalMutation disease CGI