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: C1720189
Disease: Episodic Ataxia
Episodic Ataxia
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 36 9 0.320 limited 1.000 2 2014 2017
CUI: C4015108
Disease: Episodic ataxia with slurred speech
Episodic ataxia with slurred speech
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 1 0.300 limited 1.000 1 2014 2014
CUI: C0025202
Disease: melanoma
melanoma
disease Neoplasms Neoplastic Process 3087 515 0.300 None 0
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6941 3417 0.300 None 0 1
CUI: C0349588
Disease: Short stature
Short stature
phenotype Finding 1127 292 0.100 None 0 5
CUI: C1839780
Disease: FRAGILE X TREMOR/ATAXIA SYNDROME
FRAGILE X TREMOR/ATAXIA SYNDROME
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 62 0.020 None 1.000 2 2010 2014
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 0.020 None 1.000 2 2015 2017
CUI: C3495676
Disease: Anorectal Malformations
Anorectal Malformations
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Anatomical Abnormality 112 6 0.010 None 1.000 1 2019 2019
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion
phenotype Neoplastic Process 6626 169 0.010 None 1.000 1 2011 2011
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 3720 652 0.010 None 1.000 1 2011 2011
CUI: C0497327
Disease: Dementia
Dementia
disease Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction 816 176 0.010 None 1.000 1 2017 2017
CUI: C0454651
Disease: Specific language impairment
Specific language impairment
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 34 9 0.010 None 1.000 1 2017 2017
CUI: C0424101
Disease: Inattention
Inattention
phenotype Mental or Behavioral Dysfunction 66 22 0.010 None < 0.001 1 2019 2019
CUI: C0038273
Disease: Stereotypic Movement Disorder
Stereotypic Movement Disorder
phenotype Mental Disorders Mental or Behavioral Dysfunction 192 26 0.010 None 1.000 1 2018 2018
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 6385 327 0.010 None 1.000 1 2011 2011
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach
disease Digestive System Diseases; Neoplasms Neoplastic Process 3806 615 0.010 None 1.000 1 2011 2011
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Disease or Syndrome 384 162 0.010 None 1.000 1 2019 2019
CUI: C0011265
Disease: Presenile dementia
Presenile dementia
disease Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction 718 159 0.010 None 1.000 1 2017 2017
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
disease Nervous System Diseases; Mental Disorders Disease or Syndrome 3397 1843 0.010 None 1.000 1 2010 2010