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: C4706527
Disease: Startle epilepsy
Startle epilepsy 		disease Nervous System Diseases Disease or Syndrome 1 0.010 None < 0.001 1 2014 2014
CUI: C0796241
Disease: MENTAL RETARDATION, X-LINKED 34 (disorder)
MENTAL RETARDATION, X-LINKED 34 (disorder) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 3 0.300 definitive 1.000 6 1999 2017
CUI: C0795887
Disease: Complex Glycerol Kinase Deficiency
Complex Glycerol Kinase Deficiency 		disease Endocrine System Diseases Disease or Syndrome 3 0.010 None 1.000 1 2004 2004
CUI: C0796206
Disease: Atkin syndrome
Atkin syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 5 0.600 definitive 1.000 6 1999 2017
CUI: C1856117
Disease: Uplifted earlobe
Uplifted earlobe 		disease Anatomical Abnormality 6 3 0.100 None 0
CUI: C0796225
Disease: Mental Retardation, X-Linked 19
Mental Retardation, X-Linked 19 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 7 9 0.010 None 1.000 1 1996 1996
CUI: C3550704
Disease: Abnormality of digit
Abnormality of digit 		phenotype Anatomical Abnormality 9 9 0.010 None 1.000 1 2016 2016
CUI: C3840214
Disease: High-functioning autism
High-functioning autism 		disease Mental Disorders Mental or Behavioral Dysfunction 15 5 0.010 None 1.000 1 2008 2008
CUI: C0809983
Disease: Schizophrenia and related disorders
Schizophrenia and related disorders 		group Mental Disorders Disease or Syndrome 20 5 0.310 None 1.000 1 2011 2011
CUI: C0265252
Disease: Coffin-Lowry syndrome
Coffin-Lowry syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 23 25 0.010 None 1.000 1 1996 1996
CUI: C4021620
Disease: Clinodactyly of the 2nd toe
Clinodactyly of the 2nd toe 		disease Anatomical Abnormality 32 0.100 None 0
CUI: C4024664
Disease: Moderate sensorineural hearing impairment
Moderate sensorineural hearing impairment 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Finding 34 1 0.100 None 0
CUI: C1846151
Disease: Widened subarachnoid space
Widened subarachnoid space 		phenotype Finding 35 1 0.100 None 0
CUI: C4021538
Disease: Mild neurosensory hearing impairment
Mild neurosensory hearing impairment 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 35 0.100 None 0
CUI: C1168443
Disease: Pseudocholinesterase Measurement
Pseudocholinesterase Measurement 		phenotype Laboratory Procedure 39 568 0.100 None 1.000 1 1 2010 2010
CUI: C4021608
Disease: Shortening of all distal phalanges of the fingers
Shortening of all distal phalanges of the fingers 		phenotype Finding 40 0.100 None 0
CUI: C2931498
Disease: Mental Retardation, X-Linked 1
Mental Retardation, X-Linked 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 45 29 0.310 None 1.000 2 2006 2008
CUI: C0008810
Disease: Circadian Rhythms
Circadian Rhythms 		phenotype Organism Function 45 84 0.100 None 1.000 1 1 2016 2016
CUI: C0220766
Disease: Congenital hypoplasia of adrenal gland
Congenital hypoplasia of adrenal gland 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases Congenital Abnormality 45 13 0.010 None 1.000 1 2003 2003
CUI: C1855496
Disease: Contiguous gene syndrome
Contiguous gene syndrome 		disease Disease or Syndrome 52 0.020 None 1.000 2 2003 2011
CUI: C0342482
Disease: X-linked Adrenal Hypoplasia
X-linked Adrenal Hypoplasia 		disease Endocrine System Diseases Disease or Syndrome 57 70 0.010 None 1.000 1 2003 2003
CUI: C1858036
Disease: Periorbital fullness
Periorbital fullness 		phenotype Finding 57 4 0.100 None 0
CUI: C0025037
Disease: Meckel Diverticulum
Meckel Diverticulum 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Congenital Abnormality 63 0.100 None 0
CUI: C0455829
Disease: Waist Circumference
Waist Circumference 		phenotype Clinical Attribute 70 183 0.100 None 1.000 1 1 2010 2010
CUI: C1849340
Disease: Long palpebral fissure
Long palpebral fissure 		phenotype Finding 73 10 0.100 None 0