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: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 757 47 0.010 None 1.000 1 1999 1999
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 194 11 0.100 None 0.983 58 1991 2015
CUI: C0025322
Disease: Premature Menopause
Premature Menopause 		disease Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome 299 90 0.100 None 1.000 11 1996 2011
CUI: C0085215
Disease: Ovarian Failure, Premature
Ovarian Failure, Premature 		disease Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Disease or Syndrome 333 115 0.100 None 1.000 10 1996 2006
CUI: C0751156
Disease: FRAXA Syndrome
FRAXA Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 8 1 0.030 None 1.000 3 1997 2007
CUI: C1857276
Disease: Trichohepatoenteric Syndrome
Trichohepatoenteric Syndrome 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases Disease or Syndrome 424 28 0.030 None 1.000 3 1991 1999
CUI: C0027765
Disease: nervous system disorder
nervous system disorder 		group Nervous System Diseases Disease or Syndrome 977 39 0.020 None 1.000 2 2003 2005
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		disease Disease or Syndrome 1075 276 0.020 None 1.000 2 1999 2008
CUI: C4732730
Disease: Blood spots
Blood spots 		disease Disease or Syndrome 117 0.020 None 1.000 2 1995 2000
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 441 120 0.010 None 1.000 1 2005 2005
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		disease Nervous System Diseases Disease or Syndrome 2078 990 0.010 None 1.000 1 2011 2011
CUI: C0032897
Disease: Prader-Willi Syndrome
Prader-Willi Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 185 8 0.010 None 1.000 1 1993 1993
CUI: C0087012
Disease: Ataxia, Spinocerebellar
Ataxia, Spinocerebellar 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 156 4 0.010 None 1.000 1 2005 2005
CUI: C0221060
Disease: Mobius Syndrome
Mobius Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Stomatognathic Diseases Disease or Syndrome 28 2 0.010 None 1.000 1 1991 1991
CUI: C0262404
Disease: Cerebellar degeneration
Cerebellar degeneration 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 60 0.010 None 1.000 1 1991 1991
CUI: C0262405
Disease: Cerebral dysfunction
Cerebral dysfunction 		disease Nervous System Diseases Disease or Syndrome 45 0.010 None 1.000 1 1995 1995
CUI: C0393591
Disease: AICARDI-GOUTIERES SYNDROME
AICARDI-GOUTIERES SYNDROME 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Nervous System Diseases Disease or Syndrome 117 12 0.010 None 1.000 1 2007 2007
CUI: C0751157
Disease: FRAXE Syndrome
FRAXE Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 11 2 0.010 None 1.000 1 1996 1996
CUI: C0751781
Disease: Dentatorubral-Pallidoluysian Atrophy
Dentatorubral-Pallidoluysian Atrophy 		disease Nervous System Diseases Disease or Syndrome 95 0.010 None 1.000 1 1994 1994
CUI: C0752120
Disease: Spinocerebellar Ataxia Type 1
Spinocerebellar Ataxia Type 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 102 4 0.010 None 1.000 1 1994 1994
CUI: C0795841
Disease: Jacobsen Distal 11q Deletion Syndrome
Jacobsen Distal 11q Deletion Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 28 2 0.010 None < 0.001 1 2012 2012
CUI: C1136249
Disease: Mental Retardation, X-Linked
Mental Retardation, X-Linked 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 141 13 0.010 None < 0.001 1 2000 2000
CUI: C1839259
Disease: Bulbo-Spinal Atrophy, X-Linked
Bulbo-Spinal Atrophy, X-Linked 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 126 30 0.010 None 1.000 1 1994 1994
CUI: C1864172
Disease: Peroxisome Biogenesis Disorder, Complementation Group G
Peroxisome Biogenesis Disorder, Complementation Group G 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 10 1 0.010 None 1.000 1 1997 1997
CUI: C2930861
Disease: Premature ovarian failure, familial
Premature ovarian failure, familial 		disease Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Disease or Syndrome 3 0.010 None 1.000 1 1999 1999