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.
MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 9 8 0.800 1.000 15 8 1969 2016
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group Behavior and Behavior Mechanisms; Mental Disorders; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Mental or Behavioral Dysfunction 2502 53 0.430 strong 1.000 3 2008 2014
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
disease Immune System Diseases; Musculoskeletal Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 1832 1878 0.320 1.000 3 1995 2009
CUI: C0525045
Disease: Mood Disorders
Mood Disorders
group Mental Disorders Mental or Behavioral Dysfunction 335 91 0.310 1.000 1 2011 2011
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder
disease Mental Disorders Mental or Behavioral Dysfunction 836 665 0.310 1.000 1 2008 2008
CUI: C0236788
Disease: Bipolar II disorder
Bipolar II disorder
disease Mental or Behavioral Dysfunction 18 9 0.300 1.000 1 2008 2008
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
disease Disease or Syndrome 467 60 0.300 limited 0
CUI: C0025362
Disease: Mental Retardation
Mental Retardation
disease Mental or Behavioral Dysfunction 1157 29 0.110 1.000 1 2008 2008
CUI: C0029456
Disease: Osteoporosis
Osteoporosis
disease Musculoskeletal Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 440 82 0.110 1.000 1 2013 2013
CUI: C0014544
Disease: Epilepsy
Epilepsy
disease Nervous System Diseases Disease or Syndrome 1176 147 0.110 1.000 1 1 2008 2008
CUI: C0013362
Disease: Dysarthria
Dysarthria
disease Nervous System Diseases; Pathological Conditions, Signs and Symptoms Mental or Behavioral Dysfunction 281 19 0.110 1.000 1 2014 2014
CUI: C0175693
Disease: Russell-Silver syndrome
Russell-Silver syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 54 9 0.100 1.000 14 1999 2013
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma
disease Neoplastic Process 1655 87 0.100 1.000 10 1988 2012
CUI: C0856863
Disease: Broad-based gait
Broad-based gait
phenotype Finding 33 2 0.100 0
Varying degree of multiple fractures
phenotype Finding 71 0.100 0
CUI: C1827524
Disease: Wide spaced nipples
Wide spaced nipples
phenotype Finding 65 2 0.100 0
CUI: C0431483
Disease: Simple ear
Simple ear
phenotype Congenital Abnormality 62 2 0.100 0
CUI: C1317785
Disease: Tooth size discrepancy
Tooth size discrepancy
phenotype Finding 57 0.100 0
CUI: C1306710
Disease: Facial asymmetry
Facial asymmetry
phenotype Pathological Conditions, Signs and Symptoms Finding 45 2 0.100 0
CUI: C0454555
Disease: Hypernasal voice
Hypernasal voice
phenotype Finding 60 0.100 0
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 506 827 0.100 0 1
CUI: C0566620
Disease: Nasal voice
Nasal voice
phenotype Finding 60 0.100 0
CUI: C0917816
Disease: Mental deficiency
Mental deficiency
disease Behavior and Behavior Mechanisms; Mental Disorders; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Mental or Behavioral Dysfunction 1031 0.100 0
CUI: C0857379
Disease: Abnormality of the pinna
Abnormality of the pinna
phenotype Finding 61 0.100 0
CUI: C0575158
Disease: Kyphoscoliosis deformity of spine
Kyphoscoliosis deformity of spine
phenotype Anatomical Abnormality 83 1 0.100 0