RB1, RB transcriptional corepressor 1, 5925

N. diseases: 339; N. variants: 239
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: C3887520
Disease: Childhood Pineoblastoma
Childhood Pineoblastoma
disease Neoplasms; Nervous System Diseases Neoplastic Process 13 0.010 None 1.000 1 2004 2004
CUI: C0238104
Disease: Chronic endometritis
Chronic endometritis
disease Female Urogenital Diseases and Pregnancy Complications; Infections Disease or Syndrome 14 0.010 None 1.000 1 2017 2017
Abnormality of the gastrointestinal tract
phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Anatomical Abnormality 14 1 0.100 None 0
CUI: C0154017
Disease: Benign neoplasm of bladder
Benign neoplasm of bladder
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 15 0.300 None 0
Neoplasm of uncertain or unknown behavior of bladder
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 15 0.300 None 0
CUI: C0154091
Disease: Carcinoma in situ of bladder
Carcinoma in situ of bladder
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 16 0.300 None 0
CUI: C0205898
Disease: pineoblastoma
pineoblastoma
disease Neoplasms; Nervous System Diseases Neoplastic Process 18 6 0.010 None 1.000 1 2004 2004
CUI: C0750887
Disease: Adrenal Cancer
Adrenal Cancer
disease Neoplasms; Endocrine System Diseases Neoplastic Process 20 0.300 None 1.000 1 2014 2014
CUI: C3179508
Disease: Aplasia/Hypoplasia of the thumb
Aplasia/Hypoplasia of the thumb
phenotype Musculoskeletal Diseases Finding 22 1 0.100 None 0
CUI: C0475801
Disease: Leukemia, Prolymphocytic, B-Cell
Leukemia, Prolymphocytic, B-Cell
disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 23 0.010 None 1.000 1 2000 2000
CUI: C0015414
Disease: Eye Neoplasms
Eye Neoplasms
group Neoplasms; Eye Diseases Neoplastic Process 24 0.040 None 1.000 4 2003 2013
Precursor B-lymphoblastic lymphoma/leukemia
disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 25 0.010 None 1.000 1 2019 2019
CUI: C0031941
Disease: Pineal Gland Neoplasm
Pineal Gland Neoplasm
disease Neoplasms; Nervous System Diseases Neoplastic Process 25 2 0.100 None 0
CUI: C0018915
Disease: Hemangioendothelioma
Hemangioendothelioma
disease Neoplasms Neoplastic Process 26 0.010 None 1.000 1 2014 2014
Increased lactate dehydrogenase activity
phenotype Finding 27 0.100 None 0
CUI: C1368275
Disease: Pigmented Basal Cell Carcinoma
Pigmented Basal Cell Carcinoma
disease Neoplasms Neoplastic Process 28 0.300 None 1.000 1 2016 2016
CUI: C0007125
Disease: Carcinoma, Ehrlich Tumor
Carcinoma, Ehrlich Tumor
disease Neoplasms Neoplastic Process; Experimental Model of Disease 30 0.010 None 1.000 1 2007 2007
Mycoplasma-Induced Stevens-Johnson Syndrome
disease Skin and Connective Tissue Diseases; Immune System Diseases; Chemically-Induced Disorders; Stomatognathic Diseases Disease or Syndrome 30 0.300 None 1.000 1 2015 2015
Ph-Like Acute Lymphoblastic Leukemia
disease Neoplastic Process 30 1 0.010 None 1.000 1 2019 2019
Drug-Induced Stevens Johnson Syndrome
disease Skin and Connective Tissue Diseases; Immune System Diseases; Chemically-Induced Disorders; Stomatognathic Diseases Disease or Syndrome 31 0.300 None 1.000 1 2015 2015
CUI: C0152031
Disease: Joint swelling
Joint swelling
phenotype Pathological Conditions, Signs and Symptoms Finding 33 0.100 None 0
Irido-corneo-trabecular dysgenesis (disorder)
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 35 12 0.010 None 1.000 1 2010 2010
CUI: C0016663
Disease: Pathological fracture
Pathological fracture
phenotype Wounds and Injuries Pathologic Function 35 2 0.100 None 0
CUI: C1136084
Disease: Plasma cell dyscrasia
Plasma cell dyscrasia
disease Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 36 0.010 None 1.000 1 1994 1994
CUI: C1837732
Disease: Thickened helices
Thickened helices
phenotype Finding 37 3 0.100 None 0