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: C1846266
Disease: Laterally curved eyebrow
Laterally curved eyebrow 		phenotype Finding 1 0.100 None 0
CUI: C4021292
Disease: Flexion contracture of the 4th toe
Flexion contracture of the 4th toe 		phenotype Finding 1 0.100 None 0
CUI: C4021296
Disease: Flexion contracture of the 2nd toe
Flexion contracture of the 2nd toe 		disease Anatomical Abnormality 1 0.100 None 0
CUI: C0521706
Disease: Unilateral cataract
Unilateral cataract 		disease Eye Diseases Acquired Abnormality 2 1 0.010 None 1.000 1 2020 2020
CUI: C4072884
Disease: Ciliary body coloboma
Ciliary body coloboma 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 2 0.100 None 0
CUI: C1333003
Disease: Childhood Kidney Neoplasm
Childhood Kidney Neoplasm 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 4 0.010 None 1.000 1 2015 2015
CUI: C0016873
Disease: Fused Teeth
Fused Teeth 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Congenital Abnormality 4 1 0.100 None 0
CUI: C1168239
Disease: Asymmetry of the ears
Asymmetry of the ears 		phenotype Finding 4 0.100 None 0
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: C0399357
Disease: Talon cusp
Talon cusp 		disease Anatomical Abnormality 5 0.010 None 1.000 1 2012 2012
CUI: C4048234
Disease: Undifferentiated spindle cell sarcoma
Undifferentiated spindle cell sarcoma 		disease Neoplasms Neoplastic Process 5 0.010 None 1.000 1 2015 2015
CUI: C1849950
Disease: Agenesis of maxillary lateral incisor
Agenesis of maxillary lateral incisor 		phenotype Finding 5 1 0.100 None 0
CUI: C4025810
Disease: Abnormal palmar dermatoglyphics
Abnormal palmar dermatoglyphics 		disease Anatomical Abnormality 5 0.100 None 0
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: C0266411
Disease: Septate vagina
Septate vagina 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications Congenital Abnormality 6 0.100 None 0
CUI: C0015411
Disease: Eye Manifestations
Eye Manifestations 		phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases Sign or Symptom 7 2 0.010 None 1.000 1 1 2019 2019
CUI: C1857055
Disease: Anteverted ears
Anteverted ears 		phenotype Finding 7 0.100 None 0
CUI: C0432365
Disease: Thalidomide embryopathy syndrome
Thalidomide embryopathy syndrome 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications Congenital Abnormality 8 3 0.010 None 1.000 1 1 2004 2004
CUI: C3899764
Disease: CIC-DUX Sarcoma
CIC-DUX Sarcoma 		disease Neoplasms Neoplastic Process 8 0.010 None 1.000 1 2018 2018
CUI: C3554724
Disease: Complete duplication of thumb phalanx
Complete duplication of thumb phalanx 		phenotype Finding 8 1 0.100 None 0
CUI: C4025659
Disease: Abnormality of the shoulder
Abnormality of the shoulder 		disease Anatomical Abnormality 8 0.100 None 0
CUI: C4048304
Disease: Undifferentiated round cell sarcoma
Undifferentiated round cell sarcoma 		disease Neoplastic Process 9 0.030 None 1.000 3 2014 2019
CUI: C4048700
Disease: Sclerosing rhabdomyosarcoma
Sclerosing rhabdomyosarcoma 		disease Neoplastic Process 9 0.010 None 1.000 1 2018 2018
CUI: C0575484
Disease: Long thorax
Long thorax 		phenotype Finding 9 0.100 None 0
CUI: C4727985
Disease: Ewing-like sarcoma
Ewing-like sarcoma 		disease Neoplastic Process 10 0.020 None 1.000 2 2014 2014