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: C0542141
Disease: Paralysis radial
Paralysis radial 		disease Nervous System Diseases Disease or Syndrome 5 0.010 None 1.000 1 2018 2018
CUI: C1306600
Disease: Radial nerve palsy
Radial nerve palsy 		disease Nervous System Diseases Disease or Syndrome 5 0.010 None 1.000 1 2018 2018
CUI: C3280642
Disease: Complement Component 4a Deficiency
Complement Component 4a Deficiency 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases Disease or Syndrome 6 0.010 None 1.000 1 1991 1991
CUI: C3854629
Disease: Tendon thickening
Tendon thickening 		disease Disease or Syndrome 6 0.010 None 1.000 1 2019 2019
CUI: C0398642
Disease: Montreal platelet syndrome
Montreal platelet syndrome 		disease Disease or Syndrome 7 1 0.020 None 1.000 2 1979 1985
CUI: C0263374
Disease: Lichen striatus
Lichen striatus 		disease Skin and Connective Tissue Diseases Disease or Syndrome 7 0.010 None 1.000 1 2019 2019
CUI: C0302810
Disease: Uremia syndrome
Uremia syndrome 		disease Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 7 1 0.010 None < 0.001 1 2016 2016
CUI: C0036457
Disease: Scrapie
Scrapie 		disease Infections; Nervous System Diseases; Animal Diseases Disease or Syndrome 8 0.010 None 1.000 1 1998 1998
CUI: C3280641
Disease: Decreased serum complement C4b
Decreased serum complement C4b 		disease Disease or Syndrome 8 0.010 None 1.000 1 1991 1991
CUI: C0340978
Disease: May-Hegglin anomaly
May-Hegglin anomaly 		phenotype Pathological Conditions, Signs and Symptoms; Hemic and Lymphatic Diseases Disease or Syndrome 12 19 0.010 None 1.000 1 1985 1985
CUI: C4281802
Disease: Spongiform encephalopathy
Spongiform encephalopathy 		disease Infections; Nervous System Diseases Disease or Syndrome 14 2 0.010 None 1.000 1 1996 1996
CUI: C0242666
Disease: Protein S Deficiency
Protein S Deficiency 		disease Hemic and Lymphatic Diseases Disease or Syndrome 19 14 0.010 None 1.000 1 1997 1997
CUI: C0814161
Disease: impaired motor coordination
impaired motor coordination 		phenotype Sign or Symptom 21 2 0.010 None 1.000 1 1998 1998
CUI: C0028841
Disease: Ocular Hypotension
Ocular Hypotension 		disease Eye Diseases Disease or Syndrome 22 1 0.010 None 1.000 1 2019 2019
CUI: C0263725
Disease: Hemophilic arthropathy
Hemophilic arthropathy 		disease Musculoskeletal Diseases Disease or Syndrome 22 0.010 None 1.000 1 2019 2019
CUI: C0751254
Disease: Creutzfeldt-Jakob Disease, Familial
Creutzfeldt-Jakob Disease, Familial 		disease Infections; Nervous System Diseases; Mental Disorders Disease or Syndrome 22 16 0.010 None 1.000 1 1992 1992
CUI: C0376329
Disease: New Variant Creutzfeldt-Jakob Disease
New Variant Creutzfeldt-Jakob Disease 		disease Infections; Nervous System Diseases; Mental Disorders Disease or Syndrome 23 2 0.030 None 1.000 3 2000 2011
CUI: C0017609
Disease: Glaucoma, Neovascular
Glaucoma, Neovascular 		disease Eye Diseases Disease or Syndrome 23 0.010 None 1.000 1 2019 2019
CUI: C0238124
Disease: Necrotizing fasciitis
Necrotizing fasciitis 		disease Musculoskeletal Diseases Disease or Syndrome 24 0.010 None 1.000 1 2018 2018
CUI: C0206042
Disease: Fatal Familial Insomnia
Fatal Familial Insomnia 		disease Infections; Nervous System Diseases Disease or Syndrome 25 16 0.020 None 1.000 2 1997 2010
CUI: C4310512
Disease: Sporadic CJD
Sporadic CJD 		disease Infections; Nervous System Diseases; Mental Disorders; Animal Diseases Disease or Syndrome 30 17 0.010 None < 0.001 1 2014 2014
CUI: C0032027
Disease: Pityriasis Rubra Pilaris
Pityriasis Rubra Pilaris 		disease Skin and Connective Tissue Diseases Disease or Syndrome 32 2 0.010 None 1.000 1 2019 2019
CUI: C0861727
Disease: Pancreatic adenocarcinoma metastatic
Pancreatic adenocarcinoma metastatic 		disease Neoplastic Process 32 2 0.010 None 1.000 1 2017 2017
CUI: C0149778
Disease: Soft Tissue Infection
Soft Tissue Infection 		group Infections Disease or Syndrome 38 0.010 None 1.000 1 2018 2018
CUI: C1832097
Disease: EPIDERMAL DIFFERENTIATION COMPLEX
EPIDERMAL DIFFERENTIATION COMPLEX 		disease Disease or Syndrome 38 3 0.010 None 1.000 1 1997 1997