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: C2931104
Disease: Hydrolethalus syndrome
Hydrolethalus syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 5 1 0.440 None 1.000 7 1 1990 2017
CUI: C1856016
Disease: HYDROLETHALUS SYNDROME 1
HYDROLETHALUS SYNDROME 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 3 1 0.700 None 1.000 3 1 2005 2016
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases Disease or Syndrome 95 187 0.510 None 1.000 3 2005 2016
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		group Neoplasms Neoplastic Process 8221 1374 0.010 None 1.000 1 2019 2019
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		disease Neoplasms Neoplastic Process 344 186 0.010 None 1.000 1 1991 1991
CUI: C0035328
Disease: Retinal Vein Occlusion
Retinal Vein Occlusion 		disease Eye Diseases; Cardiovascular Diseases Disease or Syndrome 76 15 0.010 None 1.000 1 2019 2019
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		disease Eye Diseases Disease or Syndrome 685 663 0.010 None 1.000 1 2019 2019
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		group Cardiovascular Diseases Disease or Syndrome 2322 1085 0.010 None 1.000 1 2019 2019
CUI: C0155017
Disease: Color Blindness, Blue
Color Blindness, Blue 		disease Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome 25 12 0.010 None 1.000 1 2017 2017
CUI: C0302142
Disease: Deformity
Deformity 		group Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Anatomical Abnormality 350 26 0.010 None 1.000 1 1 2016 2016
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 174 187 0.010 None 1.000 1 1991 1991
CUI: C0027651
Disease: Neoplasms
Neoplasms 		group Neoplasms Neoplastic Process 10161 1644 0.010 None 1.000 1 1992 1992
CUI: C0730285
Disease: Diabetic macular edema
Diabetic macular edema 		disease Eye Diseases; Endocrine System Diseases; Cardiovascular Diseases Disease or Syndrome 92 6 0.010 None 1.000 1 2019 2019
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis 		disease Cardiovascular Diseases Disease or Syndrome 2044 281 0.010 None 1.000 1 2018 2018
CUI: C4551683
Disease: Adrenal Gland Pheochromocytoma
Adrenal Gland Pheochromocytoma 		disease Neoplasms; Endocrine System Diseases Neoplastic Process 416 50 0.010 None 1.000 1 1991 1991
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6776 2793 0.010 None 1.000 1 2019 2019
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		disease Nervous System Diseases; Mental Disorders Disease or Syndrome 3397 1843 0.010 None 1.000 1 2018 2018
CUI: C4551568
Disease: Joubert syndrome 1
Joubert syndrome 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases Disease or Syndrome 26 31 0.300 None 1.000 1 2016 2016
CUI: C0003850
Disease: Arteriosclerosis
Arteriosclerosis 		disease Cardiovascular Diseases Disease or Syndrome 2006 267 0.010 None 1.000 1 2018 2018
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6941 3417 0.010 None 1.000 1 2019 2019
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		group Neoplasms Neoplastic Process 8621 1641 0.010 None 1.000 1 2019 2019
CUI: C0007789
Disease: Cerebral Palsy
Cerebral Palsy 		disease Nervous System Diseases Disease or Syndrome 241 69 0.010 None 1.000 1 2019 2019
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 1098 73 0.010 None 1.000 1 1 2016 2016
CUI: C1856017
Disease: Adrenal gland dysgenesis
Adrenal gland dysgenesis 		phenotype Finding 1 0.100 None 0
CUI: C0595939
Disease: Stillbirth
Stillbirth 		phenotype Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications Finding 23 2 0.100 None 0