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: C0265219
Disease: Miller Dieker syndrome
Miller Dieker syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 182 9 0.010 None < 0.001 1 2015 2015
CUI: C0039538
Disease: Teratoma
Teratoma 		disease Neoplasms Neoplastic Process 171 8 0.010 None 1.000 1 1988 1988
CUI: C3811918
Disease: GRN-related frontotemporal dementia
GRN-related frontotemporal dementia 		disease Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders Disease or Syndrome 112 20 0.010 None 1.000 1 2013 2013
CUI: C2347762
Disease: Childhood Teratoma
Childhood Teratoma 		disease Neoplasms Neoplastic Process 95 3 0.010 None 1.000 1 1988 1988
CUI: C1368898
Disease: Adult Teratoma
Adult Teratoma 		disease Neoplasms Neoplastic Process 93 3 0.010 None 1.000 1 1988 1988
CUI: C0339525
Disease: Autosomal dominant retinitis pigmentosa
Autosomal dominant retinitis pigmentosa 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 85 65 0.010 None 1.000 1 2014 2014
CUI: C1328840
Disease: Autoimmune Lymphoproliferative Syndrome
Autoimmune Lymphoproliferative Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 65 22 0.010 None < 0.001 1 2011 2011
CUI: C0026272
Disease: Mixed Connective Tissue Disease
Mixed Connective Tissue Disease 		disease Skin and Connective Tissue Diseases Disease or Syndrome 61 4 0.060 None 1.000 6 1984 2017
CUI: C1959635
Disease: Parvovirus B19 (disease)
Parvovirus B19 (disease) 		disease Disease or Syndrome 59 0.010 None 1.000 1 2010 2010
CUI: C0410000
Disease: Overlap syndrome
Overlap syndrome 		disease Skin and Connective Tissue Diseases; Immune System Diseases Disease or Syndrome 57 2 0.010 None 1.000 1 2002 2002
CUI: C0751785
Disease: Unverricht-Lundborg Syndrome
Unverricht-Lundborg Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 56 17 0.010 None 1.000 1 1996 1996
CUI: C0013364
Disease: Dysautonomia, Familial
Dysautonomia, Familial 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome; Congenital Abnormality 52 46 0.010 None 1.000 1 2017 2017
CUI: C0751778
Disease: Myoclonic Epilepsies, Progressive
Myoclonic Epilepsies, Progressive 		disease Nervous System Diseases Disease or Syndrome 48 17 0.010 None 1.000 1 1996 1996
CUI: C0334070
Disease: Maturation defect
Maturation defect 		phenotype Acquired Abnormality 43 2 0.010 None 1.000 1 2007 2007
CUI: C0032371
Disease: Poliomyelitis
Poliomyelitis 		disease Infections; Nervous System Diseases Disease or Syndrome 23 0.010 None 1.000 1 2007 2007
CUI: C1832378
Disease: Retinitis Pigmentosa 18
Retinitis Pigmentosa 18 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 3 3 0.010 None 1.000 1 2008 2008
CUI: C1859452
Disease: MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I
MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases Congenital Abnormality 3 10 0.010 None 1.000 1 1 2014 2014