BRCA2, BRCA2 DNA repair associated, 675

N. diseases: 656; N. variants: 3066
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: C2751641
Disease: GLIOMA SUSCEPTIBILITY 3
GLIOMA SUSCEPTIBILITY 3 		disease Finding 1 22 0.400 strong 1.000 2 22 2007 2013
CUI: C1855710
Disease: Bone marrow hypocellularity
Bone marrow hypocellularity 		phenotype Finding 64 5 0.400 strong 1.000 1 2017 2017
CUI: C2931456
Disease: Prostate cancer, familial
Prostate cancer, familial 		disease Neoplasms; Male Urogenital Diseases Neoplastic Process 116 25 0.380 None 1.000 9 1998 2017
CUI: C0278876
Disease: Adult Medulloblastoma
Adult Medulloblastoma 		disease Neoplasms Neoplastic Process 762 24 0.330 None 1.000 3 2 2003 2011
CUI: C0278510
Disease: Childhood Medulloblastoma
Childhood Medulloblastoma 		disease Neoplasms Neoplastic Process 771 25 0.330 None 1.000 3 2 2003 2011
CUI: C0030312
Disease: Pancytopenia
Pancytopenia 		disease Hemic and Lymphatic Diseases Disease or Syndrome 253 15 0.310 strong 1.000 2 2017 2018
CUI: C0751688
Disease: Malignant Squamous Cell Neoplasm
Malignant Squamous Cell Neoplasm 		disease Neoplasms Neoplastic Process 193 12 0.310 None 1.000 2 1 2014 2018
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		disease Mental Disorders Mental or Behavioral Dysfunction 2872 2897 0.310 None < 0.001 1 2 2010 2010
CUI: C0005684
Disease: Malignant neoplasm of urinary bladder
Malignant neoplasm of urinary bladder 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 2113 316 0.310 None 1.000 1 1 2019 2019
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		disease Mental Disorders Mental or Behavioral Dysfunction 1183 839 0.310 None 1.000 1 1 2010 2010
CUI: C2675522
Disease: OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2
OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 		phenotype Finding 1 0.300 definitive 1.000 10 1996 2017
CUI: C2675521
Disease: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2
BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 		phenotype Finding 1 0.300 definitive 1.000 10 1996 2017
CUI: C4704874
Disease: Mammary Carcinoma, Human
Mammary Carcinoma, Human 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 545 0.300 None 1.000 3 2010 2017
CUI: C1257931
Disease: Mammary Neoplasms, Human
Mammary Neoplasms, Human 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 527 0.300 None 1.000 3 2010 2017
CUI: C4228778
Disease: Abnormality of radial ray
Abnormality of radial ray 		phenotype Finding 34 0.300 strong 1.000 1 2017 2017
CUI: C0265219
Disease: Miller Dieker syndrome
Miller Dieker syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 182 9 0.300 strong 1.000 1 2017 2017
CUI: C0206720
Disease: Squamous Cell Neoplasms
Squamous Cell Neoplasms 		group Neoplasms Neoplastic Process 22 0.300 None 1.000 1 2014 2014
CUI: C4749652
Disease: Hereditary site-specific ovarian cancer syndrome
Hereditary site-specific ovarian cancer syndrome 		disease Disease or Syndrome 2 0.300 None 1.000 1 2005 2005
CUI: C3842001
Disease: Adult only
Adult only 		phenotype Finding 6 0.300 strong 0
CUI: C2930471
Disease: Bilateral Wilms Tumor
Bilateral Wilms Tumor 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 31 0.300 None 0
CUI: C0205833
Disease: Medullomyoblastoma
Medullomyoblastoma 		disease Neoplasms Neoplastic Process 43 0.300 None 0
CUI: C0751291
Disease: Desmoplastic Medulloblastoma
Desmoplastic Medulloblastoma 		disease Neoplasms Neoplastic Process 54 1 0.300 None 0
CUI: C0347284
Disease: Benign tumor of pancreas
Benign tumor of pancreas 		disease Digestive System Diseases; Neoplasms; Endocrine System Diseases Neoplastic Process 13 0.300 None 0
CUI: C0496920
Disease: Neoplasm of uncertain or unknown behavior of ovary
Neoplasm of uncertain or unknown behavior of ovary 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Neoplastic Process 29 0.300 None 0
CUI: C0259783
Disease: mixed gliomas
mixed gliomas 		disease Neoplasms Neoplastic Process 76 0.300 None 0