Source: INFERRED ×
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: C0687120
Disease: Nephronophthisis
Nephronophthisis 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 45 0.110 None 1.000 7 14 2003 2016
CUI: C0022680
Disease: Polycystic Kidney Diseases
Polycystic Kidney Diseases 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 56 0.110 None 1.000 0 1 2010 2010
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms 		disease Nervous System Diseases Disease or Syndrome 14 0.100 None 1.000 4 1 2016 2017
CUI: C3715199
Disease: RENAL-HEPATIC-PANCREATIC DYSPLASIA 1
RENAL-HEPATIC-PANCREATIC DYSPLASIA 1 		disease Disease or Syndrome 2 0.100 None 1.000 3 5 2008 2016
CUI: C0037221
Disease: Situs Inversus
Situs Inversus 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 12 0.100 None 1.000 3 1 2008 2016
CUI: C4310700
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 44
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 44 		disease Disease or Syndrome 2 0.100 None 1.000 2 13 2016 2016
CUI: C0700379
Disease: Total iron binding capacity function
Total iron binding capacity function 		phenotype Clinical Attribute 20 0.100 None 1.000 1 1 2017 2017
CUI: C1858392
Disease: NEPHRONOPHTHISIS 3
NEPHRONOPHTHISIS 3 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 2 0.100 None 1.000 1 9 2017 2017
CUI: C4553013
Disease: Chemokine (C-C Motif) Ligand 21 Measurement
Chemokine (C-C Motif) Ligand 21 Measurement 		phenotype Laboratory Procedure 2 0.100 None 1.000 1 1 2018 2018
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		phenotype Laboratory Procedure 1156 0.100 None 1.000 1 1 2018 2018
CUI: C0005890
Disease: Body Height
Body Height 		phenotype Organism Attribute 1903 0.100 None 1.000 1 1 2019 2019
CUI: C0202202
Disease: Protein measurement
Protein measurement 		group Laboratory Procedure 75 0.100 None 1.000 1 1 2018 2018
CUI: C0524587
Disease: Mean Corpuscular Volume (result)
Mean Corpuscular Volume (result) 		phenotype Laboratory or Test Result 269 0.100 None 1.000 1 1 2016 2016
CUI: C0040420
Disease: Tonometry
Tonometry 		phenotype Diagnostic Procedure 206 0.100 None 1.000 1 1 2018 2018
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		phenotype Finding 641 0.100 None 1.000 1 1 2016 2016
CUI: C1283048
Disease: Iron binding capacity total measurement
Iron binding capacity total measurement 		phenotype Laboratory Procedure 20 0.100 None 1.000 1 1 2017 2017
CUI: C0948163
Disease: Leukoaraiosis
Leukoaraiosis 		phenotype Pathological Conditions, Signs and Symptoms Pathologic Function 66 0.100 None 0 2
CUI: C1853743
Disease: Muscular hypotonia of the trunk
Muscular hypotonia of the trunk 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 154 0.100 None 0 2
CUI: C1849043
Disease: Soft, doughy skin
Soft, doughy skin 		phenotype Finding 11 0.100 None 0 2
CUI: C1846868
Disease: Parkinsonism with favorable response to dopaminergic medication
Parkinsonism with favorable response to dopaminergic medication 		phenotype Nervous System Diseases Finding 21 0.100 None 0 2
CUI: C1839767
Disease: Tented upper lip vermilion
Tented upper lip vermilion 		phenotype Finding 79 0.100 None 0 2
CUI: C1845274
Disease: Abnormal conjugate eye movement
Abnormal conjugate eye movement 		phenotype Finding 7 0.100 None 0 2
CUI: C1456852
Disease: Ventouse delivery (finding)
Ventouse delivery (finding) 		phenotype Finding 3 0.100 None 0 2
CUI: C1740801
Disease: Exaggerated startle response
Exaggerated startle response 		phenotype Finding 18 0.100 None 0 2
CUI: C1836038
Disease: Poor head control
Poor head control 		phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Finding 162 0.100 None 0 2