BCOR, BCL6 corepressor, 54880

N. diseases: 314; N. variants: 21
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: C1846265
Disease: Microphthalmia, syndromic 2
Microphthalmia, syndromic 2 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Cardiovascular Diseases Disease or Syndrome 6 12 0.800 strong 1.000 19 12 2004 2020
CUI: C0796016
Disease: Microphthalmia, syndromic 1
Microphthalmia, syndromic 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 5 3 0.650 None 1.000 5 2 2004 2018
CUI: C0334488
Disease: Clear cell sarcoma of kidney
Clear cell sarcoma of kidney 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 31 0.400 None 1.000 15 2015 2020
CUI: C0010606
Disease: Adenoid Cystic Carcinoma
Adenoid Cystic Carcinoma 		disease Neoplasms Neoplastic Process 325 30 0.400 None 1.000 1 3 2013 2013
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		disease Neoplasms Neoplastic Process 3111 6892 0.370 None 1.000 7 1 2011 2019
CUI: C0206651
Disease: Clear Cell Sarcoma of Soft Tissue
Clear Cell Sarcoma of Soft Tissue 		disease Neoplasms Neoplastic Process 51 2 0.320 None 1.000 3 2015 2018
CUI: C0023487
Disease: Acute Promyelocytic Leukemia
Acute Promyelocytic Leukemia 		disease Neoplasms Neoplastic Process 651 21 0.320 None 1.000 3 2010 2015
CUI: C0022665
Disease: Kidney Neoplasm
Kidney Neoplasm 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 295 11 0.320 None 1.000 2 2015 2020
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma 		disease Neoplasms Neoplastic Process 2283 178 0.310 None 1.000 2 2012 2014
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma 		disease Neoplasms; Eye Diseases Neoplastic Process 853 193 0.310 None 1.000 1 2014 2014
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 1.000 1 2017 2017
CUI: C0206656
Disease: Embryonal Rhabdomyosarcoma
Embryonal Rhabdomyosarcoma 		disease Neoplasms Neoplastic Process 121 8 0.300 None 1.000 1 2017 2017
CUI: C0027708
Disease: Nephroblastoma
Nephroblastoma 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 586 125 0.300 None 1.000 1 2017 2017
CUI: C0740457
Disease: Malignant neoplasm of kidney
Malignant neoplasm of kidney 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 664 22 0.300 None 1.000 1 2015 2015
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		group Eye Diseases Disease or Syndrome 400 14 0.300 limited 0
CUI: C0026010
Disease: Microphthalmos
Microphthalmos 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 337 40 0.150 None 1.000 5 1 2004 2020
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Nervous System Diseases Congenital Abnormality 105 104 0.110 None 1.000 2 2 2016 2020
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease Mental or Behavioral Dysfunction 1825 553 0.110 None 1.000 1 1 2019 2019
CUI: C1261473
Disease: Sarcoma
Sarcoma 		group Neoplasms Neoplastic Process 853 42 0.100 None 0.938 32 2005 2020
CUI: C0027651
Disease: Neoplasms
Neoplasms 		group Neoplasms Neoplastic Process 10161 1644 0.100 None 1.000 32 2015 2020
CUI: C4551686
Disease: Malignant neoplasm of soft tissue
Malignant neoplasm of soft tissue 		group Neoplasms Neoplastic Process 699 32 0.100 None 0.935 31 2005 2020
CUI: C0206630
Disease: Endometrial Stromal Sarcoma
Endometrial Stromal Sarcoma 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process 75 1 0.100 None 0.923 13 2013 2020
CUI: C0553681
Disease: Hypofibrinogenemia
Hypofibrinogenemia 		disease Disease or Syndrome 60 14 0.100 None 0
CUI: C0239174
Disease: Late tooth eruption
Late tooth eruption 		phenotype Finding 139 4 0.100 None 0
CUI: C0239234
Disease: Low set ears
Low set ears 		disease Congenital Abnormality 489 64 0.100 None 0