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: C1112155
Disease: Hereditary non-polyposis colorectal cancer syndrome
Hereditary non-polyposis colorectal cancer syndrome 		disease Congenital Abnormality 31 0.300 limited 1.000 7 2013 2018
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		disease Disease or Syndrome 1075 276 0.070 None 0.857 7 2010 2015
CUI: C1096616
Disease: Contralateral breast cancer
Contralateral breast cancer 		disease Neoplastic Process 24 4 0.020 None 1.000 2 2012 2016
CUI: C3150547
Disease: PANCREATIC CANCER, SUSCEPTIBILITY TO, 3
PANCREATIC CANCER, SUSCEPTIBILITY TO, 3 		disease Finding 1 14 0.400 None 1.000 2 14 2007 2007
CUI: C0278488
Disease: Carcinoma breast stage IV
Carcinoma breast stage IV 		disease Neoplastic Process 573 14 0.010 None 1.000 1 2017 2017
CUI: C0860580
Disease: Medullary carcinoma of breast
Medullary carcinoma of breast 		disease Neoplastic Process 15 2 0.010 None 1.000 1 2016 2016
CUI: C0948303
Disease: Carcinoma of peritoneum
Carcinoma of peritoneum 		disease Neoplastic Process 10 0.010 None 1.000 1 2016 2016
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		phenotype Neoplastic Process 6626 169 0.010 None 1.000 1 2018 2018
CUI: C1282496
Disease: Metastasis from malignant tumor of prostate
Metastasis from malignant tumor of prostate 		disease Neoplastic Process 342 18 0.010 None 1.000 1 2019 2019
CUI: C1855710
Disease: Bone marrow hypocellularity
Bone marrow hypocellularity 		phenotype Finding 64 5 0.300 strong 1.000 1 2017 2017
CUI: C2827980
Disease: Stage IA Breast Cancer AJCC v7
Stage IA Breast Cancer AJCC v7 		disease Neoplastic Process 2 0.010 None 1.000 1 2017 2017
CUI: C3495917
Disease: Advanced breast cancer
Advanced breast cancer 		disease Neoplastic Process 151 3 0.010 None 1.000 1 2018 2018
CUI: C4228778
Disease: Abnormality of radial ray
Abnormality of radial ray 		phenotype Finding 34 0.300 strong 1.000 1 2007 2007
CUI: C4520898
Disease: Stage IV Breast Cancer AJCC v6 and v7
Stage IV Breast Cancer AJCC v6 and v7 		disease Neoplastic Process 15 0.010 None 1.000 1 2017 2017
CUI: C4528552
Disease: Anatomic Stage IA Breast Cancer AJCC v8
Anatomic Stage IA Breast Cancer AJCC v8 		disease Neoplastic Process 2 0.010 None 1.000 1 2017 2017
CUI: C4528561
Disease: Anatomic Stage IV Breast Cancer AJCC v8
Anatomic Stage IV Breast Cancer AJCC v8 		disease Neoplastic Process 13 0.010 None 1.000 1 2017 2017
CUI: C4528572
Disease: Prognostic Stage IA Breast Cancer AJCC v8
Prognostic Stage IA Breast Cancer AJCC v8 		disease Neoplastic Process 2 0.010 None 1.000 1 2017 2017
CUI: C4528592
Disease: Prognostic Stage IV Breast Cancer AJCC v8
Prognostic Stage IV Breast Cancer AJCC v8 		disease Neoplastic Process 13 0.010 None 1.000 1 2017 2017
CUI: C4724023
Disease: stage IA breast cancer
stage IA breast cancer 		disease Neoplastic Process 2 0.010 None 1.000 1 2017 2017
CUI: C0026985
Disease: Myelodysplasia
Myelodysplasia 		disease Congenital Abnormality 181 4 0.100 None 0
CUI: C0221358
Disease: Long narrow head
Long narrow head 		disease Congenital Abnormality 154 26 0.100 None 0
CUI: C0281842
Disease: Abnormality of the fallopian tube
Abnormality of the fallopian tube 		phenotype Anatomical Abnormality 22 0.100 None 0
CUI: C0342526
Disease: Absent testes
Absent testes 		phenotype Finding 24 0.100 None 0
CUI: C0349588
Disease: Short stature
Short stature 		phenotype Finding 1127 292 0.100 None 0
CUI: C0423109
Disease: Upward slant of palpebral fissure
Upward slant of palpebral fissure 		phenotype Finding 216 16 0.100 None 0