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: C0745730
Disease: Multiple lipomata
Multiple lipomata
disease Neoplasms Neoplastic Process 38 0.010 None 1.000 1 2001 2001
Refractory anemia, without ringed sideroblasts, without excess blasts
disease Hemic and Lymphatic Diseases Disease or Syndrome 38 2 0.010 None 1.000 1 2003 2003
Neoplasm of uncertain or unknown behavior of breast
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 41 0.300 None 0
CUI: C0007867
Disease: Cervix Diseases
Cervix Diseases
group Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome 43 3 0.010 None 1.000 1 2018 2018
CUI: C0432333
Disease: Abnormal dermatoglyphic pattern
Abnormal dermatoglyphic pattern
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Congenital Abnormality 44 0.100 None 0
CUI: C0023484
Disease: Leukemia, Plasma Cell
Leukemia, Plasma Cell
disease Neoplasms; Immune System Diseases Neoplastic Process 47 0.020 None 1.000 2 1994 1995
CUI: C0023055
Disease: Laryngeal neoplasm
Laryngeal neoplasm
disease Neoplasms; Respiratory Tract Diseases; Otorhinolaryngologic Diseases Neoplastic Process 49 1 0.020 None 1.000 2 2006 2008
Stevens-Johnson Syndrome Toxic Epidermal Necrolysis Spectrum
disease Skin and Connective Tissue Diseases; Immune System Diseases; Chemically-Induced Disorders; Stomatognathic Diseases Disease or Syndrome 50 1 0.300 None 1.000 1 2015 2015
CUI: C0341038
Disease: Jaw Keratocyst
Jaw Keratocyst
disease Neoplasms; Musculoskeletal Diseases; Stomatognathic Diseases Disease or Syndrome 51 4 0.010 None 1.000 1 2009 2009
CUI: C1704423
Disease: Milroy Disease
Milroy Disease
disease Hemic and Lymphatic Diseases Disease or Syndrome 52 18 0.010 None 1.000 1 1994 1994
CUI: C0265535
Disease: Trigonocephaly
Trigonocephaly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 52 7 0.100 None 0
CUI: C0023453
Disease: L2 Acute Lymphoblastic Leukemia
L2 Acute Lymphoblastic Leukemia
disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 53 0.300 None 1.000 1 2013 2013
CUI: C1370889
Disease: Liposarcoma, well differentiated
Liposarcoma, well differentiated
disease Neoplasms Neoplastic Process 54 0.010 None 1.000 1 2002 2002
CUI: C3489413
Disease: Lipomatosis, Multiple
Lipomatosis, Multiple
disease Neoplasms Neoplastic Process 54 1 0.010 None < 0.001 1 2001 2001
CUI: C0151849
Disease: Alkaline phosphatase raised
Alkaline phosphatase raised
phenotype Nutritional and Metabolic Diseases; Musculoskeletal Diseases Finding 55 0.100 None 0
CUI: C0007868
Disease: Cervical dysplasia
Cervical dysplasia
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome 56 1 0.010 None 1.000 1 2018 2018
CUI: C0279613
Disease: Childhood Alveolar Rhabdomyosarcoma
Childhood Alveolar Rhabdomyosarcoma
disease Neoplasms Neoplastic Process 59 0.010 None 1.000 1 2008 2008
CUI: C1708604
Disease: Keratocystic Odontogenic Tumor
Keratocystic Odontogenic Tumor
disease Neoplasms Neoplastic Process 59 2 0.010 None 1.000 1 2009 2009
CUI: C1136085
Disease: Monoclonal Gammapathies
Monoclonal Gammapathies
group Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 62 2 0.010 None 1.000 1 1994 1994
CUI: C4721411
Disease: Osteolysis
Osteolysis
phenotype Musculoskeletal Diseases Pathologic Function 62 0.100 None 0
CUI: C0741899
Disease: Poorly differentiated carcinoma
Poorly differentiated carcinoma
phenotype Neoplastic Process 64 2 0.010 None < 0.001 1 2000 2000
CUI: C0038325
Disease: Stevens-Johnson Syndrome
Stevens-Johnson Syndrome
disease Skin and Connective Tissue Diseases; Immune System Diseases; Chemically-Induced Disorders; Stomatognathic Diseases Disease or Syndrome 67 16 0.300 None 1.000 1 2015 2015
CUI: C1314665
Disease: Serum alkaline phosphatase raised
Serum alkaline phosphatase raised
phenotype Finding 67 6 0.100 None 0
CUI: C0027766
Disease: Nervous System Neoplasms
Nervous System Neoplasms
group Neoplasms; Nervous System Diseases Neoplastic Process 68 1 0.020 None 1.000 2 2003 2008
Nonnuclear polymorphic congenital cataract
disease Congenital Abnormality 71 0.010 None 1.000 1 2014 2014