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: 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: C1274890
Disease: Midline cervical cleft
Midline cervical cleft 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases; Otorhinolaryngologic Diseases Congenital Abnormality 1 0.010 None 1.000 1 2020 2020
CUI: C2959380
Disease: Folliculosebaceous cystic hamartoma
Folliculosebaceous cystic hamartoma 		disease Neoplasms Neoplastic Process 1 0.010 None 1.000 1 2020 2020
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: 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: 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: 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: C1706410
Disease: Atopic IgE-mediated allergic disorder
Atopic IgE-mediated allergic disorder 		disease Immune System Diseases Disease or Syndrome 3 2 0.100 None 1.000 1 1 2018 2018
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: 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: C4551957
Disease: Epilepsy, Familial Temporal Lobe 1
Epilepsy, Familial Temporal Lobe 1 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders Disease or Syndrome 7 17 0.010 None 1.000 1 2004 2004
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: 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: 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: 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: C1844690
Disease: Limited knee extension
Limited knee extension 		phenotype Finding 11 0.100 None 0
CUI: C4023551
Disease: Abnormality of dental color
Abnormality of dental color 		phenotype Finding 11 0.100 None 0
CUI: C1568249
Disease: Usher Syndrome, Type II
Usher Syndrome, Type II 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 12 7 0.020 None 1.000 2 1 2004 2017
CUI: C0239295
Disease: Candidiasis of the esophagus
Candidiasis of the esophagus 		disease Digestive System Diseases; Infections Disease or Syndrome 12 0.010 None 1.000 1 2017 2017
CUI: C1848519
Disease: WAARDENBURG SYNDROME, TYPE 4A
WAARDENBURG SYNDROME, TYPE 4A 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Disease or Syndrome 12 11 0.010 None 1.000 1 2017 2017
CUI: C0426900
Disease: Tibial torsion
Tibial torsion 		phenotype Finding 12 1 0.100 None 0
CUI: C4023511
Disease: Obtundation status
Obtundation status 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 12 0.100 None 0
CUI: C3502809
Disease: Generalized Epilepsy with Febrile Seizures Plus
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: C4024945
Disease: Generalized cerebral atrophy/hypoplasia
Generalized cerebral atrophy/hypoplasia 		disease Disease or Syndrome 14 2 0.100 None 0
CUI: C0422943
Disease: Visual symptoms
Visual symptoms 		phenotype Sign or Symptom 17 5 0.010 None 1.000 1 2015 2015