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: C0007789
Disease: Cerebral Palsy
Cerebral Palsy
disease Nervous System Diseases Disease or Syndrome 241 69 0.010 None 1.000 1 2020 2020
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident
group Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 1658 591 0.020 None 1.000 2 2019 2019
CUI: C0001144
Disease: Acne Vulgaris
Acne Vulgaris
disease Skin and Connective Tissue Diseases Disease or Syndrome 94 37 0.010 None 1.000 1 2018 2018
CUI: C0265673
Disease: Congenital kyphosis
Congenital kyphosis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 54 0.010 None 1.000 1 2018 2018
CUI: C0702166
Disease: Acne
Acne
disease Skin and Connective Tissue Diseases Disease or Syndrome 167 11 0.010 None 1.000 1 2018 2018
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome 247 176 0.010 None 1.000 1 2018 2018
CUI: C1184923
Disease: Lumbar hyperlordosis
Lumbar hyperlordosis
disease Musculoskeletal Diseases Anatomical Abnormality 92 8 0.010 None 1.000 1 2018 2018
CUI: C0022821
Disease: Kyphosis deformity of spine
Kyphosis deformity of spine
phenotype Musculoskeletal Diseases Anatomical Abnormality 305 10 0.010 None 1.000 1 2018 2018
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
group Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 2780 385 0.010 None 1.000 1 2018 2018
CUI: C0410702
Disease: Adolescent idiopathic scoliosis
Adolescent idiopathic scoliosis
disease Musculoskeletal Diseases Anatomical Abnormality 656 1178 0.010 None 1.000 1 2018 2018
CUI: C1998083
Disease: Inflammatory acne
Inflammatory acne
disease Skin and Connective Tissue Diseases Disease or Syndrome 8 0.010 None 1.000 1 2018 2018
CUI: C2826323
Disease: Refractory Cytopenia of Childhood
Refractory Cytopenia of Childhood
disease Neoplastic Process 264 3 0.010 None 1.000 1 2017 2017
CUI: C0152088
Disease: Traumatic spondylopathy
Traumatic spondylopathy
disease Musculoskeletal Diseases Disease or Syndrome 3 0.010 None 1.000 1 2017 2017
CUI: C1328504
Disease: Hormone refractory prostate cancer
Hormone refractory prostate cancer
disease Neoplasms; Male Urogenital Diseases Neoplastic Process 683 29 0.010 None 1.000 1 2017 2017
CUI: C0004106
Disease: Astigmatism
Astigmatism
disease Eye Diseases Disease or Syndrome 148 45 0.010 None 1.000 1 2017 2017
CUI: C0015672
Disease: Fatigue
Fatigue
phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 760 67 0.010 None 1.000 1 2017 2017
CUI: C1368683
Disease: Epithelioma
Epithelioma
disease Neoplasms Neoplastic Process 326 2 0.010 None 1.000 1 2017 2017
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion
phenotype Neoplastic Process 6626 169 0.010 None 1.000 1 2016 2016
CUI: C0233794
Disease: Memory impairment
Memory impairment
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 763 48 0.010 None 1.000 1 2015 2015
CUI: C0002726
Disease: Amyloidosis
Amyloidosis
disease Nutritional and Metabolic Diseases Disease or Syndrome 694 93 0.010 None 1.000 1 2015 2015
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis
disease Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 1114 485 0.010 None 1.000 1 2015 2015
CUI: C0022665
Disease: Kidney Neoplasm
Kidney Neoplasm
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 295 11 0.010 None 1.000 1 2015 2015
MiT family translocation renal cell carcinoma
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 33 0.020 None 1.000 2 2013 2017
CUI: C0085437
Disease: Meningitis, Bacterial
Meningitis, Bacterial
group Infections; Nervous System Diseases Disease or Syndrome 81 16 0.010 None 1.000 1 2012 2012
Conventional (Clear Cell) Renal Cell Carcinoma
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 2346 222 0.020 None 1.000 2 2011 2017