BCL2, BCL2 apoptosis regulator, 596

N. diseases: 1456; N. variants: 27
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: C0740391
Disease: Middle Cerebral Artery Occlusion
Middle Cerebral Artery Occlusion 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases Acquired Abnormality 626 0.100 None 0.933 15 1999 2019
CUI: C0086543
Disease: Cataract
Cataract 		disease Eye Diseases Acquired Abnormality 878 124 0.030 None 1.000 3 2001 2016
CUI: C0028259
Disease: Nodule
Nodule 		phenotype Acquired Abnormality 278 19 0.020 None 0.500 2 2009 2019
CUI: C0162810
Disease: Cicatrix, Hypertrophic
Cicatrix, Hypertrophic 		disease Pathological Conditions, Signs and Symptoms Acquired Abnormality 185 3 0.020 None 1.000 2 1999 2018
CUI: C0334163
Disease: Fibrous bands
Fibrous bands 		disease Pathological Conditions, Signs and Symptoms Acquired Abnormality 3 0.010 None 1.000 1 2003 2003
CUI: C0595995
Disease: Idiopathic scoliosis
Idiopathic scoliosis 		disease Musculoskeletal Diseases Acquired Abnormality 46 17 0.010 None 1.000 1 2019 2019
CUI: C2936349
Disease: Plaque, Amyloid
Plaque, Amyloid 		disease Pathological Conditions, Signs and Symptoms Acquired Abnormality 123 10 0.010 None 1.000 1 2002 2002
CUI: C0032584
Disease: polyps
polyps 		phenotype Pathological Conditions, Signs and Symptoms Anatomical Abnormality 390 18 0.020 None 1.000 2 1998 2013
CUI: C0410702
Disease: Adolescent idiopathic scoliosis
Adolescent idiopathic scoliosis 		disease Musculoskeletal Diseases Anatomical Abnormality 656 1178 0.100 None 1.000 2 1 2015 2017
CUI: C3495676
Disease: Anorectal Malformations
Anorectal Malformations 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Anatomical Abnormality 112 6 0.020 None 1.000 2 2017 2018
CUI: C0003855
Disease: Arteriovenous fistula
Arteriovenous fistula 		phenotype Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Anatomical Abnormality 93 8 0.010 None 1.000 1 1999 1999
CUI: C0259770
Disease: Epithelial inclusion cyst
Epithelial inclusion cyst 		disease Pathological Conditions, Signs and Symptoms; Neoplasms Anatomical Abnormality 14 0.010 None 1.000 1 2003 2003
CUI: C0302142
Disease: Deformity
Deformity 		group Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Anatomical Abnormality 350 26 0.010 None 1.000 1 1999 1999
CUI: C0600039
Disease: Urinary outflow obstruction
Urinary outflow obstruction 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Anatomical Abnormality 1 0.010 None 1.000 1 2003 2003
CUI: C1320468
Disease: Nephrogenic rest
Nephrogenic rest 		disease Anatomical Abnormality 15 0.010 None 1.000 1 2001 2001
CUI: C4025698
Disease: Abnormality of the peritoneum
Abnormality of the peritoneum 		disease Anatomical Abnormality 9 0.100 None 0
CUI: C0027746
Disease: Nerve Degeneration
Nerve Degeneration 		phenotype Pathological Conditions, Signs and Symptoms Cell or Molecular Dysfunction 165 17 0.300 None 1.000 2 2000 2007
CUI: C0025568
Disease: Metaplasia
Metaplasia 		phenotype Pathological Conditions, Signs and Symptoms Cell or Molecular Dysfunction 52 0.300 None 1.000 1 2003 2003
CUI: C1305855
Disease: Body mass index
Body mass index 		phenotype Clinical Attribute 1014 2689 0.100 None 1.000 5 1 2016 2019
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		phenotype Clinical Attribute 843 1931 0.100 None 1.000 2 1 2018 2019
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 757 47 0.100 None 0.955 22 1991 2017
CUI: C0220668
Disease: Congenital contractural arachnodactyly
Congenital contractural arachnodactyly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 559 48 0.070 None 0.857 7 2010 2019
CUI: C0039743
Disease: Thanatophoric Dysplasia
Thanatophoric Dysplasia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 12 10 0.020 None 1.000 2 1998 2003
CUI: C0043346
Disease: Xeroderma Pigmentosum
Xeroderma Pigmentosum 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Congenital Abnormality 137 35 0.020 None 1.000 2 2010 2012
CUI: C0175754
Disease: Agenesis of corpus callosum
Agenesis of corpus callosum 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 615 45 0.020 None 1.000 2 1999 2018