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: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		disease Respiratory Tract Diseases Disease or Syndrome 1428 852 0.020 None 1.000 2 2020 2020
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases Disease or Syndrome 85 187 0.010 None 1.000 1 2020 2020
CUI: C1562113
Disease: Fleck corneal dystrophy
Fleck corneal dystrophy 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 104 12 0.010 None 1.000 1 2020 2020
CUI: C3887461
Disease: Head and Neck Carcinoma
Head and Neck Carcinoma 		disease Neoplasms Neoplastic Process 786 118 0.010 None 1.000 1 2020 2020
CUI: C1332965
Disease: Congenital Mesoblastic Nephroma
Congenital Mesoblastic Nephroma 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 42 5 0.010 None 1.000 1 2020 2020
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 2020 2020
CUI: C0035222
Disease: Respiratory Distress Syndrome, Adult
Respiratory Distress Syndrome, Adult 		disease Respiratory Tract Diseases Disease or Syndrome 434 60 0.010 None 1.000 1 2020 2020
CUI: C0278996
Disease: Malignant Head and Neck Neoplasm
Malignant Head and Neck Neoplasm 		disease Neoplasms Neoplastic Process 767 118 0.010 None 1.000 1 2020 2020
CUI: C0855090
Disease: B-cell lymphoma refractory
B-cell lymphoma refractory 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 21 0.020 None 1.000 2 2019 2019
CUI: C0205770
Disease: Choroid Plexus Papilloma
Choroid Plexus Papilloma 		disease Neoplasms; Nervous System Diseases Neoplastic Process 64 17 0.020 None 1.000 2 2019 2019
CUI: C0206743
Disease: Rhabdoid Tumor
Rhabdoid Tumor 		disease Neoplasms Neoplastic Process 103 0.020 None 1.000 2 2019 2019
CUI: C2825139
Disease: Acute Myeloid Leukemia with Myelodysplasia-Related Changes
Acute Myeloid Leukemia with Myelodysplasia-Related Changes 		disease Neoplasms Neoplastic Process 23 0.010 None 1.000 1 2019 2019
CUI: C0154778
Disease: Myopia, Degenerative
Myopia, Degenerative 		disease Eye Diseases Disease or Syndrome 39 58 0.010 None 1.000 1 2019 2019
CUI: C0687150
Disease: Parathyroid Gland Adenocarcinoma
Parathyroid Gland Adenocarcinoma 		disease Neoplasms; Endocrine System Diseases Neoplastic Process 74 22 0.010 None 1.000 1 2019 2019
CUI: C4284013
Disease: Primary cholangiocarcinoma of intrahepatic biliary tract
Primary cholangiocarcinoma of intrahepatic biliary tract 		disease Neoplasms Neoplastic Process 274 10 0.010 None 1.000 1 2019 2019
CUI: C0042870
Disease: Vitamin D Deficiency
Vitamin D Deficiency 		disease Nutritional and Metabolic Diseases Disease or Syndrome 153 37 0.010 None 1.000 1 2019 2019
CUI: C1332216
Disease: Adult Systemic Anaplastic Large Cell Lymphoma
Adult Systemic Anaplastic Large Cell Lymphoma 		disease Neoplastic Process 12 0.010 None 1.000 1 2019 2019
CUI: C0346429
Disease: Multiple malignancy
Multiple malignancy 		phenotype Neoplasms Neoplastic Process 163 3 0.010 None 1.000 1 2019 2019
CUI: C0262587
Disease: Parathyroid Adenoma
Parathyroid Adenoma 		disease Neoplasms; Endocrine System Diseases Neoplastic Process 133 12 0.010 None 1.000 1 2019 2019
CUI: C2936904
Disease: Opitz GBBB Syndrome, X-Linked
Opitz GBBB Syndrome, X-Linked 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases; Stomatognathic Diseases Disease or Syndrome 79 24 0.010 None 1.000 1 2019 2019
CUI: C1840264
Disease: IMMUNE SUPPRESSION
IMMUNE SUPPRESSION 		phenotype Disease or Syndrome 222 3 0.010 None 1.000 1 2019 2019
CUI: C1853195
Disease: Prostate Cancer, Hereditary, 7
Prostate Cancer, Hereditary, 7 		disease Neoplasms; Male Urogenital Diseases Neoplastic Process 59 11 0.010 None 1.000 1 2019 2019
CUI: C0017665
Disease: Membranous glomerulonephritis
Membranous glomerulonephritis 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Immune System Diseases Disease or Syndrome 197 33 0.010 None 1.000 1 2019 2019
CUI: C0018801
Disease: Heart failure
Heart failure 		disease Cardiovascular Diseases Disease or Syndrome 1499 201 0.010 None 1.000 1 2019 2019
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure 		disease Cardiovascular Diseases Disease or Syndrome 1760 165 0.010 None 1.000 1 2019 2019