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: C2931213
Disease: Usher syndrome, type 2C
Usher syndrome, type 2C
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 4 28 0.940 definitive 1.000 19 28 1998 2018
CUI: C1858493
Disease: FEBRILE CONVULSIONS, FAMILIAL, 4
FEBRILE CONVULSIONS, FAMILIAL, 4
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 2 4 0.620 None 1.000 3 4 1998 2011
CUI: C1384666
Disease: hearing impairment
hearing impairment
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 740 337 0.410 strong 1.000 2 7 1998 2019
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 163 66 0.300 disputed 1.000 11 2013 2018
Generalized Epilepsy with Febrile Seizures Plus
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 13 13 0.300 None 1.000 1 2002 2002
CUI: C0015397
Disease: Disorder of eye
Disorder of eye
group Eye Diseases Disease or Syndrome 400 14 0.300 None 0
CUI: C4277690
Disease: Ciliopathies
Ciliopathies
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 241 7 0.300 limited 0
CUI: C0271097
Disease: Usher Syndrome
Usher Syndrome
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 68 74 0.200 None 1.000 11 7 2004 2019
CUI: C0154860
Disease: Hereditary retinal dystrophy
Hereditary retinal dystrophy
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 42 1 0.200 None 1.000 4 2004 2007
CUI: C2676439
Disease: USHER SYNDROME, TYPE IIB, FORMERLY
USHER SYNDROME, TYPE IIB, FORMERLY
disease Disease or Syndrome 2 0.200 None 1.000 4 2004 2007
USHER SYNDROME, TYPE IIC, GPR98/PDZD7 DIGENIC
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 2 0.200 None 1.000 4 2004 2007
CUI: C0009952
Disease: Febrile Convulsions
Febrile Convulsions
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 192 65 0.160 None 1.000 6 2000 2014
CUI: C0339534
Disease: Usher syndrome type 2
Usher syndrome type 2
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 8 16 0.150 None 1.000 5 1 2005 2015
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
disease Mental Disorders Mental or Behavioral Dysfunction 2872 2897 0.100 None 1.000 3 2 2015 2019
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement
phenotype Laboratory Procedure 563 1418 0.100 None 1.000 1 2 2012 2012
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease
disease Respiratory Tract Diseases Disease or Syndrome 1428 852 0.100 None 1.000 1 1 2019 2019
Atopic IgE-mediated allergic disorder
disease Immune System Diseases Disease or Syndrome 3 2 0.100 None 1.000 1 1 2018 2018
CUI: C1568247
Disease: Usher Syndrome, Type I
Usher Syndrome, Type I
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 23 168 0.100 None 1.000 1 1 2011 2011
CUI: C0149925
Disease: Small cell carcinoma of lung
Small cell carcinoma of lung
disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 972 125 0.100 None 1.000 1 1 2017 2017
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure
phenotype Clinical Attribute 843 1931 0.100 None 1.000 1 1 2019 2019
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement
phenotype Laboratory Procedure 717 1599 0.100 None 1.000 1 1 2019 2019
CUI: C1821417
Disease: RESTING HEART RATE
RESTING HEART RATE
phenotype Finding 80 134 0.100 None 1.000 1 1 2019 2019
CUI: C0523677
Disease: Glycine measurement
Glycine measurement
phenotype Laboratory Procedure 32 68 0.100 None 1.000 1 1 2019 2019
CUI: C0018498
Disease: Hair Color
Hair Color
phenotype Organism Attribute 130 312 0.100 None 1.000 1 1 2018 2018
CUI: C0302592
Disease: Cervix carcinoma
Cervix carcinoma
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process 1881 283 0.100 None 1.000 1 1 2019 2019