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: C0236791
Disease: Childhood disintegrative disorder
Childhood disintegrative disorder 		disease Mental Disorders Mental or Behavioral Dysfunction 2 0.010 None 1.000 1 2015 2015
CUI: C3151380
Disease: SCHIZOPHRENIA 15
SCHIZOPHRENIA 15 		disease Mental or Behavioral Dysfunction 2 3 0.400 None 1.000 1 3 2010 2010
CUI: C0564408
Disease: Manic mood
Manic mood 		phenotype Behavior and Behavior Mechanisms Finding 4 0.300 None 1.000 1 2013 2013
CUI: C0748199
Disease: Recurrent pyelonephritis
Recurrent pyelonephritis 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 5 2 0.100 None 0
CUI: C1868117
Disease: POLYDACTYLY, POSTAXIAL, WITH PROGRESSIVE MYOPIA
POLYDACTYLY, POSTAXIAL, WITH PROGRESSIVE MYOPIA 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases Disease or Syndrome 7 1 0.100 None 1.000 12 2014 2019
CUI: C1849930
Disease: Persistent Mullerian duct syndrome
Persistent Mullerian duct syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Anatomical Abnormality 9 16 0.030 None 1.000 3 2013 2017
CUI: C0040953
Disease: Trichotillomania
Trichotillomania 		disease Mental Disorders Mental or Behavioral Dysfunction 9 7 0.100 None 0
CUI: C4024710
Disease: Cerebellar cortical atrophy
Cerebellar cortical atrophy 		disease Disease or Syndrome 9 7 0.100 None 0
CUI: C0264169
Disease: Saddle nose
Saddle nose 		phenotype Respiratory Tract Diseases; Otorhinolaryngologic Diseases Finding 10 1 0.100 None 0
CUI: C1838320
Disease: Hyperorality
Hyperorality 		phenotype Behavior and Behavior Mechanisms Finding 10 0.100 None 0
CUI: C0023012
Disease: Language Delay
Language Delay 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 11 0.300 None 1.000 2 2006 2007
CUI: C0454655
Disease: Semantic-Pragmatic Disorder
Semantic-Pragmatic Disorder 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Mental or Behavioral Dysfunction 11 0.300 None 1.000 2 2006 2007
CUI: C0751257
Disease: Auditory Processing Disorder, Central
Auditory Processing Disorder, Central 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 11 0.300 None 1.000 2 2006 2007
CUI: C1851085
Disease: Severe expressive language delay
Severe expressive language delay 		disease Mental or Behavioral Dysfunction 11 7 0.010 None 1.000 1 2002 2002
CUI: C0009460
Disease: Communication impairment
Communication impairment 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction 13 1 0.010 None 1.000 1 2007 2007
CUI: C3276623
Disease: Toenail dysplasia
Toenail dysplasia 		phenotype Finding 13 2 0.100 None 0
CUI: C0007398
Disease: Catatonia
Catatonia 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 14 2 0.010 None 1.000 1 2016 2016
CUI: C0795878
Disease: Monosomy 22
Monosomy 22 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 14 0.010 None 1.000 1 2012 2012
CUI: C1853490
Disease: 22q13.3 Deletion Syndrome
22q13.3 Deletion Syndrome 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 15 10 1.000 definitive 1.000 53 9 2001 2020
CUI: C0236792
Disease: Asperger Syndrome
Asperger Syndrome 		disease Mental Disorders Mental or Behavioral Dysfunction 17 3 0.010 None 1.000 1 2007 2007
CUI: C0595948
Disease: Atypical absence seizure
Atypical absence seizure 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 17 0.010 None 1.000 1 2016 2016
CUI: C0023014
Disease: Language Development Disorders
Language Development Disorders 		group Pathological Conditions, Signs and Symptoms; Nervous System Diseases Mental or Behavioral Dysfunction 18 0.300 None 1.000 2 2006 2007
CUI: C0231274
Disease: Intolerant of heat
Intolerant of heat 		phenotype Pathologic Function 19 7 0.100 None 0
CUI: C0033046
Disease: Premenstrual syndrome
Premenstrual syndrome 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 21 1 0.100 None 1.000 12 2014 2019
CUI: C0162285
Disease: Edema of eyelid
Edema of eyelid 		phenotype Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Skin and Connective Tissue Diseases; Male Urogenital Diseases; Immune System Diseases; Cardiovascular Diseases Pathologic Function 22 1 0.100 None 0