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: C0521706
Disease: Unilateral cataract
Unilateral cataract 		disease Eye Diseases Acquired Abnormality 2 1 0.010 None 1.000 1 2020 2020
CUI: C0086543
Disease: Cataract
Cataract 		disease Eye Diseases Acquired Abnormality 878 124 0.100 None 0
CUI: C0158465
Disease: Acquired cubitus valgus
Acquired cubitus valgus 		disease Acquired Abnormality 35 1 0.100 None 0
CUI: C0221369
Disease: Acquired Camptodactyly
Acquired Camptodactyly 		disease Acquired Abnormality 120 1 0.100 None 0
CUI: C0600033
Disease: Acquired Kyphoscoliosis
Acquired Kyphoscoliosis 		disease Musculoskeletal Diseases Acquired Abnormality 149 2 0.100 None 0
CUI: C0399357
Disease: Talon cusp
Talon cusp 		disease Anatomical Abnormality 5 0.010 None 1.000 1 2012 2012
CUI: C0022821
Disease: Kyphosis deformity of spine
Kyphosis deformity of spine 		phenotype Musculoskeletal Diseases Anatomical Abnormality 305 10 0.100 None 0
CUI: C0024636
Disease: Malocclusion
Malocclusion 		disease Stomatognathic Diseases Anatomical Abnormality 128 10 0.100 None 0
CUI: C0040427
Disease: Tooth Abnormalities
Tooth Abnormalities 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Anatomical Abnormality 54 2 0.100 None 0
CUI: C0158113
Disease: Contracture of joint of hand
Contracture of joint of hand 		disease Musculoskeletal Diseases Anatomical Abnormality 55 5 0.100 None 0
CUI: C0240063
Disease: Coloboma of iris
Coloboma of iris 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Anatomical Abnormality 153 12 0.100 None 0
CUI: C0339182
Disease: Ankyloblepharon
Ankyloblepharon 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Anatomical Abnormality 18 0.100 None 0
CUI: C0521620
Disease: Dilatation of ureter
Dilatation of ureter 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Anatomical Abnormality 72 2 0.100 None 0
CUI: C0575158
Disease: Kyphoscoliosis deformity of spine
Kyphoscoliosis deformity of spine 		disease Musculoskeletal Diseases Anatomical Abnormality 155 17 0.100 None 0
CUI: C0576093
Disease: Knee joint valgus deformity
Knee joint valgus deformity 		disease Musculoskeletal Diseases Anatomical Abnormality 117 5 0.100 None 0
CUI: C1136179
Disease: Hammer Toe
Hammer Toe 		phenotype Musculoskeletal Diseases Anatomical Abnormality 46 11 0.100 None 0
CUI: C1184923
Disease: Lumbar hyperlordosis
Lumbar hyperlordosis 		disease Musculoskeletal Diseases Anatomical Abnormality 92 8 0.100 None 0
CUI: C1846460
Disease: Abnormality of the outer ear
Abnormality of the outer ear 		disease Anatomical Abnormality 95 8 0.100 None 0
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		phenotype Anatomical Abnormality 104 131 0.100 None 0 1
CUI: C4021296
Disease: Flexion contracture of the 2nd toe
Flexion contracture of the 2nd toe 		disease Anatomical Abnormality 1 0.100 None 0
CUI: C4021792
Disease: Abnormality of the clavicle
Abnormality of the clavicle 		disease Anatomical Abnormality 42 0.100 None 0
CUI: C4025659
Disease: Abnormality of the shoulder
Abnormality of the shoulder 		disease Anatomical Abnormality 8 0.100 None 0
CUI: C4025810
Disease: Abnormal palmar dermatoglyphics
Abnormal palmar dermatoglyphics 		disease Anatomical Abnormality 5 0.100 None 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: 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