RSS, Russell Silver syndrome, 140821

N. diseases: 103; N. variants: 0
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: C3714753
Disease: RETINOSCHISIS 1, X-LINKED, JUVENILE
RETINOSCHISIS 1, X-LINKED, JUVENILE
disease Disease or Syndrome 33 59 0.010 None 1.000 1 1988 1988
CUI: C0041912
Disease: Upper Respiratory Infections
Upper Respiratory Infections
group Infections; Respiratory Tract Diseases Disease or Syndrome 64 6 0.010 None 1.000 1 1988 1988
CUI: C0019196
Disease: Hepatitis C
Hepatitis C
disease Digestive System Diseases; Infections Disease or Syndrome 1768 347 0.010 None 1.000 1 2001 2001
CUI: C0432475
Disease: XX males
XX males
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 32 0.010 None 1.000 1 2009 2009
CUI: C0004903
Disease: Beckwith-Wiedemann Syndrome
Beckwith-Wiedemann Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 107 84 0.040 None 1.000 4 2010 2014
CUI: C4552213
Disease: Broad autism phenotype
Broad autism phenotype
disease Mental or Behavioral Dysfunction 6 0.010 None 1.000 1 2014 2014
CUI: C2986703
Disease: Overgrowth Syndrome
Overgrowth Syndrome
disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 36 6 0.010 None 1.000 1 2014 2014
CUI: C0243026
Disease: Sepsis
Sepsis
disease Pathological Conditions, Signs and Symptoms; Infections Disease or Syndrome 1453 144 0.010 None 1.000 1 2016 2016
CUI: C0036690
Disease: Septicemia
Septicemia
disease Pathological Conditions, Signs and Symptoms; Infections Disease or Syndrome 1285 141 0.010 None 1.000 1 2016 2016
CUI: C0007682
Disease: CNS disorder
CNS disorder
group Nervous System Diseases Disease or Syndrome 319 11 0.010 None 1.000 1 2016 2016
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases Neoplastic Process 311 827 0.010 None 1.000 1 2016 2016
CUI: C0038016
Disease: Spondylolisthesis
Spondylolisthesis
disease Musculoskeletal Diseases Disease or Syndrome 28 1 0.010 None 1.000 1 2017 2017
CUI: C0025202
Disease: melanoma
melanoma
disease Neoplasms Neoplastic Process 3087 515 0.010 None 1.000 1 2017 2017
Mixed anxiety and depressive disorder
disease Mental Disorders Mental or Behavioral Dysfunction 146 13 0.010 None 1.000 1 2017 2017
CUI: C0027832
Disease: Neurofibromatosis 2
Neurofibromatosis 2
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases; Otorhinolaryngologic Diseases Neoplastic Process 127 49 0.010 None 1.000 1 2017 2017
Pituitary-dependent Cushing's disease
disease Nervous System Diseases; Endocrine System Diseases Disease or Syndrome 115 8 0.010 None 1.000 1 2017 2017
CUI: C0220633
Disease: Uveal melanoma
Uveal melanoma
disease Neoplasms; Eye Diseases Neoplastic Process 376 22 0.010 None 1.000 1 2017 2017
CUI: C0038017
Disease: Congenital spondylolisthesis
Congenital spondylolisthesis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 17 1 0.010 None 1.000 1 2017 2017
CUI: C0032000
Disease: Pituitary Adenoma
Pituitary Adenoma
disease Neoplasms; Nervous System Diseases; Endocrine System Diseases Neoplastic Process 170 11 0.010 None 1.000 1 2017 2017
Benign neoplasm of brain, unspecified
disease Neoplasms; Nervous System Diseases Neoplastic Process 41 0.010 None 1.000 1 2017 2017
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 2165 159 0.010 None 1.000 1 2017 2017
CUI: C0004936
Disease: Mental disorders
Mental disorders
group Mental Disorders Mental or Behavioral Dysfunction 789 149 0.010 None 1.000 1 2017 2017
FUNDUS DYSTROPHY, PSEUDOINFLAMMATORY, OF SORSBY
disease Eye Diseases Disease or Syndrome 16 6 0.010 None 1.000 1 2017 2017
CUI: C4727182
Disease: Recurrent Cushing Disease
Recurrent Cushing Disease
disease Nervous System Diseases; Endocrine System Diseases Disease or Syndrome 6 0.010 None 1.000 1 2017 2017
CUI: C0524528
Disease: Pervasive Development Disorder
Pervasive Development Disorder
group Mental Disorders Mental or Behavioral Dysfunction 328 49 0.010 None 1.000 1 2017 2017