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: 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
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: C3148929
Disease: USHER SYNDROME, TYPE IIC, GPR98/PDZD7 DIGENIC
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: 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
CUI: C0014544
Disease: Epilepsy
Epilepsy 		disease Nervous System Diseases Disease or Syndrome 1215 339 0.030 None 1.000 3 2001 2018
CUI: C0036572
Disease: Seizures
Seizures 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 2152 553 0.020 None 1.000 2 2009 2013
CUI: C1838062
Disease: Autosomal Dominant Lateral Temporal Lobe Epilepsy
Autosomal Dominant Lateral Temporal Lobe Epilepsy 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders Disease or Syndrome 8 4 0.020 None 1.000 2 2002 2004
CUI: C0015967
Disease: Fever
Fever 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 1021 66 0.020 None 1.000 2 2002 2004
CUI: C0014550
Disease: Myoclonic Epilepsy
Myoclonic Epilepsy 		disease Nervous System Diseases Disease or Syndrome 71 9 0.020 None 1.000 2 2011 2018
CUI: C0751791
Disease: Reflex Epilepsy, Audiogenic
Reflex Epilepsy, Audiogenic 		disease Nervous System Diseases Disease or Syndrome 31 0.020 None 1.000 2 2002 2016
CUI: C0406821
Disease: Rhabdomyomatous mesenchymal hamartoma
Rhabdomyomatous mesenchymal hamartoma 		disease Neoplasms; Skin and Connective Tissue Diseases Congenital Abnormality 1 0.010 None 1.000 1 2020 2020
CUI: C1969656
Disease: MYOCLONIC EPILEPSY, JUVENILE, SUSCEPTIBILITY TO, 4 (disorder)
MYOCLONIC EPILEPSY, JUVENILE, SUSCEPTIBILITY TO, 4 (disorder) 		disease Disease or Syndrome 2 0.010 None 1.000 1 2011 2011
CUI: C2129214
Disease: Loose stool
Loose stool 		phenotype Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Nervous System Diseases Sign or Symptom 8 0.010 None 1.000 1 2002 2002
CUI: C0042133
Disease: Uterine Fibroids
Uterine Fibroids 		group Neoplasms Neoplastic Process 569 154 0.010 None 1.000 1 2008 2008
CUI: C0751633
Disease: Carotid Artery Plaque
Carotid Artery Plaque 		disease Nervous System Diseases; Cardiovascular Diseases Acquired Abnormality 41 3 0.010 None 1.000 1 2019 2019
CUI: C0041296
Disease: Tuberculosis
Tuberculosis 		disease Infections Disease or Syndrome 1256 328 0.010 None 1.000 1 2018 2018
CUI: C0497156
Disease: Lymphadenopathy
Lymphadenopathy 		phenotype Hemic and Lymphatic Diseases Disease or Syndrome 277 5 0.010 None 1.000 1 2002 2002
CUI: C3489393
Disease: Hiatal Hernia
Hiatal Hernia 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 39 3 0.010 None 1.000 1 2017 2017
CUI: C2959380
Disease: Folliculosebaceous cystic hamartoma
Folliculosebaceous cystic hamartoma 		disease Neoplasms Neoplastic Process 1 0.010 None 1.000 1 2020 2020
CUI: C0151514
Disease: Atrophic condition of skin
Atrophic condition of skin 		group Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome 111 4 0.010 None 1.000 1 2020 2020
CUI: C0863106
Disease: Afebrile seizure
Afebrile seizure 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 8 1 0.010 None 1.000 1 2002 2002
CUI: C1848634
Disease: USHER SYNDROME, TYPE IIA
USHER SYNDROME, TYPE IIA 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 4 314 0.010 None 1.000 1 2005 2005
CUI: C0339789
Disease: Congenital deafness
Congenital deafness 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Nervous System Diseases; Otorhinolaryngologic Diseases Congenital Abnormality 72 11 0.010 None 1.000 1 2004 2004
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		disease Disease or Syndrome 1075 276 0.010 None 1.000 1 2002 2002