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: C4086165
Disease: Childhood Neuroblastoma
Childhood Neuroblastoma 		disease Neoplasms Neoplastic Process 2420 231 0.010 None 1.000 1 2009 2009
CUI: C1184923
Disease: Lumbar hyperlordosis
Lumbar hyperlordosis 		disease Musculoskeletal Diseases Anatomical Abnormality 92 8 0.010 None 1.000 1 2018 2018
CUI: C0740457
Disease: Malignant neoplasm of kidney
Malignant neoplasm of kidney 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 664 22 0.010 None 1.000 1 2009 2009
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: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		disease Neoplasms; Nervous System Diseases Neoplastic Process 2419 231 0.010 None 1.000 1 2009 2009
CUI: C0559460
Disease: Adrenal neuroblastoma
Adrenal neuroblastoma 		disease Neoplasms Neoplastic Process 4 0.010 None 1.000 1 2009 2009
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: 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: 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: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		phenotype Neoplastic Process 6626 169 0.010 None 1.000 1 2016 2016
CUI: C1300127
Disease: Perivascular Epithelioid Cell Neoplasms
Perivascular Epithelioid Cell Neoplasms 		group Neoplasms Neoplastic Process 31 0.010 None 1.000 1 2009 2009
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: 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: 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: C1378703
Disease: Renal carcinoma
Renal carcinoma 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 665 21 0.010 None 1.000 1 2009 2009
CUI: C1368683
Disease: Epithelioma
Epithelioma 		disease Neoplasms Neoplastic Process 326 2 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: C1306837
Disease: Papillary Renal Cell Carcinoma
Papillary Renal Cell Carcinoma 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 223 3 0.010 None 1.000 1 1997 1997
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 669 77 0.010 None 1.000 1 2001 2001
CUI: C0152088
Disease: Traumatic spondylopathy
Traumatic spondylopathy 		disease Musculoskeletal Diseases Disease or Syndrome 3 0.010 None 1.000 1 2017 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
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: C0015672
Disease: Fatigue
Fatigue 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 760 67 0.010 None 1.000 1 2017 2017
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 766 80 0.010 None 1.000 1 2001 2001
CUI: C0007789
Disease: Cerebral Palsy
Cerebral Palsy 		disease Nervous System Diseases Disease or Syndrome 241 69 0.010 None 1.000 1 2020 2020