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: C0024622
Disease: Malignant neoplasm of retina
Malignant neoplasm of retina
disease Neoplasms; Eye Diseases Neoplastic Process 1 0.010 None 1.000 1 2016 2016
CUI: C3151302
Disease: Chromosome 13q14 deletion syndrome
Chromosome 13q14 deletion syndrome
disease Disease or Syndrome 1 0.300 None 1.000 1 2011 2011
CUI: C1704237
Disease: Trichodiscoma
Trichodiscoma
disease Neoplastic Process 2 0.010 None 1.000 1 2019 2019
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases Disease or Syndrome 2 50 0.100 None 0 1
WOOLLY HAIR, AUTOSOMAL RECESSIVE 1, WITH OR WITHOUT HYPOTRICHOSIS
disease Disease or Syndrome 2 1 0.100 None 0 1
CUI: C1867289
Disease: Retinal calcification
Retinal calcification
phenotype Finding 2 0.100 None 0
Vulvar Adenocarcinoma of Mammary Gland Type
disease Neoplastic Process 2 2 0.100 None 0 1
CUI: C0854915
Disease: Retinoblastoma unilateral
Retinoblastoma unilateral
disease Neoplasms; Eye Diseases Neoplastic Process 3 0.100 None 1.000 11 1996 2016
CUI: C1334266
Disease: Intraurothelial Neoplasia
Intraurothelial Neoplasia
disease Neoplastic Process 3 0.010 None 1.000 1 2006 2006
CUI: C2608045
Disease: Trilateral Retinoblastoma
Trilateral Retinoblastoma
disease Neoplasms; Eye Diseases Neoplastic Process 3 1 0.400 strong 1.000 1 1 2013 2013
Abnormality of the tibial metaphysis
disease Anatomical Abnormality 3 0.100 None 0
CUI: C0152458
Disease: Leukocoria
Leukocoria
disease Eye Diseases Disease or Syndrome 4 0.100 None 0
Abnormality of the femoral metaphysis
disease Anatomical Abnormality 4 0.100 None 0
CUI: C0854914
Disease: Retinoblastoma bilateral
Retinoblastoma bilateral
disease Neoplasms; Eye Diseases Neoplastic Process 6 0.080 None 1.000 8 1991 2018
CUI: C0751484
Disease: Sporadic Retinoblastoma
Sporadic Retinoblastoma
disease Neoplasms; Eye Diseases Neoplastic Process 7 0.330 None 0.667 3 2002 2014
CUI: C2930975
Disease: Acute erythroleukemia - M6a subtype
Acute erythroleukemia - M6a subtype
disease Neoplasms; Hemic and Lymphatic Diseases Disease or Syndrome 8 0.300 None 1.000 1 2019 2019
CUI: C2930976
Disease: Acute myeloid leukemia FAB-M6
Acute myeloid leukemia FAB-M6
disease Neoplasms; Hemic and Lymphatic Diseases Disease or Syndrome 8 0.300 None 1.000 1 2019 2019
CUI: C2930977
Disease: Acute erythroleukemia - M6b subtype
Acute erythroleukemia - M6b subtype
disease Neoplasms; Hemic and Lymphatic Diseases Disease or Syndrome 8 0.300 None 1.000 1 2019 2019
CUI: C0346011
Disease: Fibrofolliculoma
Fibrofolliculoma
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 10 1 0.010 None 1.000 1 2019 2019
CUI: C0496836
Disease: Malignant tumor of eye
Malignant tumor of eye
disease Neoplasms; Eye Diseases Neoplastic Process 11 0.020 None 1.000 2 2018 2018
CUI: C0751483
Disease: Familial Retinoblastoma
Familial Retinoblastoma
disease Neoplasms; Eye Diseases Neoplastic Process 12 4 0.600 None 0.933 15 1992 2019
CUI: C0042909
Disease: Vitreous Hemorrhage
Vitreous Hemorrhage
phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases Pathologic Function 12 0.100 None 0
CUI: C3279470
Disease: HYPOTRICHOSIS 8
HYPOTRICHOSIS 8
disease Skin and Connective Tissue Diseases Disease or Syndrome 13 8 0.100 None 1.000 2 7 2008 2014
CUI: C0281332
Disease: Adult Pineoblastoma
Adult Pineoblastoma
disease Neoplasms; Nervous System Diseases Neoplastic Process 13 0.010 None 1.000 1 2004 2004
CUI: C2930974
Disease: Acute erythroleukemia
Acute erythroleukemia
disease Neoplasms; Hemic and Lymphatic Diseases Disease or Syndrome 13 1 0.300 None 1.000 1 2019 2019