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: C4551722
Disease: Encephalocele
Encephalocele
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Nervous System Diseases Congenital Abnormality 23 7 0.010 None 1.000 1 1 2019 2019
CUI: C0376524
Disease: Branchio-Oculo-Facial Syndrome
Branchio-Oculo-Facial Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 9 16 0.010 None 1.000 1 2016 2016
CUI: C0344315
Disease: Depressed mood
Depressed mood
phenotype Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 1461 269 0.010 None 1.000 1 2019 2019
CUI: C0278876
Disease: Adult Medulloblastoma
Adult Medulloblastoma
disease Neoplasms Neoplastic Process 762 24 0.010 None 1.000 1 2016 2016
CUI: C0278510
Disease: Childhood Medulloblastoma
Childhood Medulloblastoma
disease Neoplasms Neoplastic Process 771 25 0.010 None 1.000 1 2016 2016
CUI: C0266667
Disease: Cyclocephaly
Cyclocephaly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality 35 0.010 None 1.000 1 2017 2017
CUI: C4721806
Disease: Carcinoma, Basal Cell
Carcinoma, Basal Cell
disease Neoplasms Neoplastic Process 557 91 0.010 None 1.000 1 2016 2016
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior
phenotype Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 910 121 0.010 None 1.000 1 2017 2017
CUI: C0178874
Disease: Tumor Progression
Tumor Progression
phenotype Pathological Conditions, Signs and Symptoms Neoplastic Process 3865 72 0.010 None 1.000 1 2013 2013
CUI: C0158646
Disease: Cleft palate with cleft lip
Cleft palate with cleft lip
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Congenital Abnormality 119 43 0.010 None 1.000 1 1 2017 2017
CUI: C0149779
Disease: Somatization
Somatization
disease Mental or Behavioral Dysfunction 21 5 0.010 None 1.000 1 2019 2019
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases Neoplastic Process 289 55 0.010 None 1.000 1 2018 2018
CUI: C0040963
Disease: Tricuspid Valve Stenosis
Tricuspid Valve Stenosis
disease Cardiovascular Diseases Disease or Syndrome 26 1 0.010 None 1.000 1 2018 2018
CUI: C0040517
Disease: Gilles de la Tourette syndrome
Gilles de la Tourette syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders Disease or Syndrome 177 63 0.010 None 1.000 1 2018 2018
CUI: C0039494
Disease: Temporomandibular Joint Disorders
Temporomandibular Joint Disorders
group Musculoskeletal Diseases; Stomatognathic Diseases Disease or Syndrome 84 25 0.010 None 1.000 1 2019 2019
CUI: C0038362
Disease: Stomatitis
Stomatitis
disease Stomatognathic Diseases Disease or Syndrome 109 22 0.010 None 1.000 1 2020 2020
CUI: C0424139
Disease: Anxiety and fear
Anxiety and fear
disease Mental or Behavioral Dysfunction 51 0.010 None 1.000 1 2017 2017
CUI: C0424295
Disease: Hyperactive behavior
Hyperactive behavior
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Mental or Behavioral Dysfunction 1263 112 0.010 None 1.000 1 2017 2017
Experimental Organism Basal Cell Carcinoma
phenotype Neoplasms Neoplastic Process 437 63 0.010 None 1.000 1 2016 2016
CUI: C3662483
Disease: Allergic sensitization
Allergic sensitization
disease Disease or Syndrome 85 26 0.010 None 1.000 1 2006 2006
CUI: C3266076
Disease: Orofacial cleft
Orofacial cleft
disease Congenital Abnormality 18 2 0.010 None 1.000 1 2014 2014
CUI: C1853926
Disease: NONAKA MYOPATHY
NONAKA MYOPATHY
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 132 81 0.010 None 1.000 1 2017 2017
CUI: C1832916
Disease: Timothy syndrome
Timothy syndrome
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Mental Disorders; Cardiovascular Diseases Disease or Syndrome 32 9 0.010 None 1.000 1 2018 2018
CUI: C1568868
Disease: Oral Mucositis
Oral Mucositis
disease Stomatognathic Diseases Disease or Syndrome 59 16 0.010 None 1.000 1 2020 2020
CUI: C1333064
Disease: Classical Hodgkin's Lymphoma
Classical Hodgkin's Lymphoma
disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 285 20 0.010 None 1.000 1 2017 2017