CCND1, cyclin D1, 595

N. diseases: 859; N. variants: 12
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: C0022548
Disease: Keloid
Keloid
disease Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Acquired Abnormality 165 15 0.010 None 1.000 1 2017 2017
CUI: C0162810
Disease: Cicatrix, Hypertrophic
Cicatrix, Hypertrophic
disease Pathological Conditions, Signs and Symptoms Acquired Abnormality 185 3 0.010 None 1.000 1 2008 2008
CUI: C0333463
Disease: Senile Plaques
Senile Plaques
disease Pathological Conditions, Signs and Symptoms Acquired Abnormality 249 21 0.010 None 1.000 1 2004 2004
CUI: C0410158
Disease: Muscle damage
Muscle damage
phenotype Acquired Abnormality 163 4 0.010 None < 0.001 1 2019 2019
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 0.010 None 1.000 1 2019 2019
CUI: C0021846
Disease: Intestinal Polyps
Intestinal Polyps
phenotype Pathological Conditions, Signs and Symptoms Anatomical Abnormality 48 1 0.310 None 1.000 2 2003 2009
CUI: C0032584
Disease: polyps
polyps
phenotype Pathological Conditions, Signs and Symptoms Anatomical Abnormality 390 18 0.010 None 1.000 1 2013 2013
CUI: C4024589
Disease: Aplasia/Hypoplasia of the mandible
Aplasia/Hypoplasia of the mandible
phenotype Anatomical Abnormality 19 1 0.010 None 1.000 1 2016 2016
Abnormality of bone marrow cell morphology
disease Anatomical Abnormality 15 0.100 None 0
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: C0919532
Disease: Genomic Instability
Genomic Instability
phenotype Pathological Conditions, Signs and Symptoms Cell or Molecular Dysfunction 5 0.300 None 1.000 1 1996 1996
CUI: C0544886
Disease: Somatic mutation
Somatic mutation
phenotype Cell or Molecular Dysfunction 151 0.100 None 0
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 757 47 0.100 None 0.867 15 1 1994 2019
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 0.040 None 1.000 4 2000 2018
CUI: C0282160
Disease: Aplasia Cutis Congenita
Aplasia Cutis Congenita
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Congenital Abnormality 393 14 0.040 None 1.000 4 2000 2018
Congenital contractural arachnodactyly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 559 48 0.020 None 1.000 2 2017 2019
CUI: C0432409
Disease: Trisomy 11
Trisomy 11
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 17 0.020 None 1.000 2 2000 2007
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 1098 73 0.010 None 1.000 1 2018 2018
CUI: C0001080
Disease: Achondroplasia
Achondroplasia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 46 21 0.010 None 1.000 1 2009 2009
CUI: C0001193
Disease: Apert syndrome
Apert syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 20 24 0.010 None 1.000 1 2013 2013
CUI: C0013336
Disease: Dwarfism
Dwarfism
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Congenital Abnormality 1261 77 0.010 None 1.000 1 2014 2014
CUI: C0026499
Disease: Monosomy
Monosomy
group Pathological Conditions, Signs and Symptoms Congenital Abnormality 214 11 0.010 None 1.000 1 2012 2012
CUI: C0265290
Disease: Metaphyseal chondrodysplasia
Metaphyseal chondrodysplasia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 20 3 0.010 None 1.000 1 2002 2002
CUI: C0265783
Disease: Congenital hypoplasia of lung
Congenital hypoplasia of lung
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases Congenital Abnormality 175 6 0.010 None 1.000 1 2011 2011
Congenital absence of germinal epithelium of testes
disease Male Urogenital Diseases Congenital Abnormality 82 6 0.010 None 1.000 1 2019 2019