Source: CURATED ×
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: C4551693
Disease: Wolfram Syndrome 1
Wolfram Syndrome 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases; Nervous System Diseases; Endocrine System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 1 32 0.980 None 1.000 12 32 1998 2018
CUI: C0043207
Disease: Wolfram Syndrome
Wolfram Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases; Nervous System Diseases; Endocrine System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 2 0.900 definitive 0.973 10 1999 2019
CUI: C3280358
Disease: Wolfram-Like Syndrome, Autosomal Dominant
Wolfram-Like Syndrome, Autosomal Dominant 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases; Nervous System Diseases; Endocrine System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 1 5 0.710 definitive 1.000 13 5 1998 2018
CUI: C1833021
Disease: DEAFNESS, AUTOSOMAL DOMINANT 6
DEAFNESS, AUTOSOMAL DOMINANT 6 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 1 11 0.700 None 1.000 11 11 1998 2016
CUI: C3805412
Disease: CATARACT 41
CATARACT 41 		disease Disease or Syndrome 1 1 0.700 None 1.000 3 1 2013 2017
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		disease Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 221 1232 0.700 strong 0.974 2 7 2002 2020
CUI: C1384666
Disease: hearing impairment
hearing impairment 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 98 261 0.500 strong 1.000 1 1998 2017
CUI: C0011581
Disease: Depressive disorder
Depressive disorder 		disease Mental Disorders Mental or Behavioral Dysfunction 289 7 0.420 None 0.667 3 2000 2005
CUI: C0392557
Disease: Nuclear cataract
Nuclear cataract 		disease Eye Diseases Disease or Syndrome 18 1 0.400 None 1.000 1 2013 2013
CUI: C1112705
Disease: Nuclear non-senile cataract
Nuclear non-senile cataract 		disease Eye Diseases Disease or Syndrome 18 0.400 None 1.000 1 2013 2013
CUI: C0525045
Disease: Mood Disorders
Mood Disorders 		group Mental Disorders Mental or Behavioral Dysfunction 168 218 0.380 None 0.800 5 1999 2015
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		disease Mental Disorders Mental or Behavioral Dysfunction 477 552 0.360 None 1.000 5 2000 2016
CUI: C4518338
Disease: Wolfram-like syndrome
Wolfram-like syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases Disease or Syndrome 1 0.320 definitive 1.000 11 2001 2018
CUI: C0011570
Disease: Mental Depression
Mental Depression 		disease Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 254 0.320 None 0.667 3 2000 2005
CUI: C0004138
Disease: Ataxias, Hereditary
Ataxias, Hereditary 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 8 1 0.300 strong 1.000 1 2018 2018
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		group Eye Diseases Disease or Syndrome 212 0.300 limited 0