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: C1527249
Disease: Colorectal Cancer
Colorectal Cancer
disease Digestive System Diseases; Neoplasms Neoplastic Process 3298 955 0.600 0.923 27 1 1990 2015
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 2931 539 0.600 0.906 34 2 1990 2015
CUI: C1834870
Disease: MIRROR MOVEMENTS 1
MIRROR MOVEMENTS 1
phenotype Finding 1 16 0.600 5 16 1993 2017
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 0.510 moderate 1.000 2 2017 2017
CUI: C0014859
Disease: Esophageal Neoplasms
Esophageal Neoplasms
group Digestive System Diseases; Neoplasms Neoplastic Process 636 60 0.510 1.000 1 1992 1992
CUI: C0546837
Disease: Malignant neoplasm of esophagus
Malignant neoplasm of esophagus
disease Digestive System Diseases; Neoplasms Neoplastic Process 672 66 0.500 0
CUI: C0152018
Disease: Esophageal carcinoma
Esophageal carcinoma
disease Neoplastic Process 684 223 0.500 1 1 1994 1994
CUI: C0175754
Disease: Agenesis of corpus callosum
Agenesis of corpus callosum
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Congenital Abnormality 316 19 0.410 1.000 1 8 2017 2017
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
group Digestive System Diseases; Neoplasms Neoplastic Process 1072 226 0.380 1.000 9 1 1992 2008
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
disease Mental Disorders Mental or Behavioral Dysfunction 1922 1782 0.310 1.000 1 1 2012 2012
GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS, 2
disease Disease or Syndrome 1 0.300 1 2017 2017
CUI: C0020796
Disease: Profound Mental Retardation
Profound Mental Retardation
disease Behavior and Behavior Mechanisms; Mental Disorders; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Mental or Behavioral Dysfunction 195 2 0.300 1 2017 2017
CUI: C0013720
Disease: Ehlers-Danlos Syndrome
Ehlers-Danlos Syndrome
disease Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 104 8 0.300 moderate 1 2017 2017
CUI: C0025363
Disease: Mental Retardation, Psychosocial
Mental Retardation, Psychosocial
disease Behavior and Behavior Mechanisms; Mental Disorders; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Mental or Behavioral Dysfunction 137 0.300 1 2017 2017
CUI: C0025202
Disease: melanoma
melanoma
disease Neoplasms Neoplastic Process 2453 389 0.300 1 2012 2012
CUI: C0153942
Disease: Benign neoplasm of esophagus
Benign neoplasm of esophagus
disease Neoplastic Process 6 0.300 0
CUI: C1319315
Disease: Adenocarcinoma of large intestine
Adenocarcinoma of large intestine
disease Neoplastic Process 296 127 0.300 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 0.300 1 2017 2017
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases
group Nutritional and Metabolic Diseases Disease or Syndrome 383 57 0.300 moderate 1 2017 2017
Gaze Palsy, Familial Horizontal, with Progressive Scoliosis
disease Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Nutritional and Metabolic Diseases; Pathological Conditions, Signs and Symptoms Disease or Syndrome 2 10 0.300 1 2017 2017
CUI: C0266470
Disease: Cerebellar Hypoplasia
Cerebellar Hypoplasia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Mental Disorders; Nervous System Diseases Congenital Abnormality 143 6 0.300 moderate 1 2017 2017
CUI: C3179058
Disease: Corpus Callosum Malformation
Corpus Callosum Malformation
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Congenital Abnormality 2 0.300 1 2017 2017
CUI: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 68 22 0.300 0
CUI: C0154059
Disease: Carcinoma in situ of esophagus
Carcinoma in situ of esophagus
disease Neoplastic Process 6 0.300 0
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
disease Neoplastic Process 2090 240 0.170 0.857 8 1 1992 2017