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: C2931258
Disease: Amaurosis congenita of Leber, type 1
Amaurosis congenita of Leber, type 1 		disease Eye Diseases Disease or Syndrome 81 60 0.020 None 1.000 2 2005 2019
CUI: C2936786
Disease: Aqueductal Stenosis
Aqueductal Stenosis 		disease Nervous System Diseases Disease or Syndrome 34 2 0.010 None 1.000 1 2019 2019
CUI: C0339526
Disease: Autosomal recessive retinitis pigmentosa
Autosomal recessive retinitis pigmentosa 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 82 31 0.020 None 1.000 2 2005 2019
CUI: C0456909
Disease: Blindness
Blindness 		phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome 393 34 0.010 None 1.000 1 2019 2019
CUI: C1305855
Disease: Body mass index
Body mass index 		phenotype Clinical Attribute 1014 2689 0.100 None 1.000 1 1 2018 2018
CUI: C1531647
Disease: Cerebral ventriculomegaly
Cerebral ventriculomegaly 		phenotype Nervous System Diseases Finding 410 0.100 None 0
CUI: C4277690
Disease: Ciliopathies
Ciliopathies 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 241 7 0.020 None 1.000 2 2016 2016
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 1098 73 0.010 None 1.000 1 2016 2016
CUI: C0266292
Disease: Congenital anomaly of the kidney
Congenital anomaly of the kidney 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Congenital Abnormality 63 4 0.010 None 1.000 1 2016 2016
CUI: C0265783
Disease: Congenital hypoplasia of lung
Congenital hypoplasia of lung 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases Congenital Abnormality 175 6 0.010 None 1.000 1 2016 2016
CUI: C0266476
Disease: Congenital stenosis of aqueduct of Sylvius
Congenital stenosis of aqueduct of Sylvius 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 6 0.010 None 1.000 1 2019 2019
CUI: C1857423
Disease: Cystic Kidney Disease with Ventriculomegaly
Cystic Kidney Disease with Ventriculomegaly 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases Disease or Syndrome 1 4 0.700 None 1.000 3 4 2015 2019
CUI: C0302142
Disease: Deformity
Deformity 		group Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Anatomical Abnormality 350 26 0.010 None 1.000 1 2016 2016
CUI: C3278923
Disease: Dilated ventricles (finding)
Dilated ventricles (finding) 		phenotype Finding 427 32 0.100 None 0
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		group Eye Diseases Disease or Syndrome 400 14 0.010 None 1.000 1 2015 2015
CUI: C0403399
Disease: Finnish congenital nephrotic syndrome
Finnish congenital nephrotic syndrome 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 11 178 0.010 None 1.000 1 2016 2016
CUI: C0017668
Disease: Focal glomerulosclerosis
Focal glomerulosclerosis 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 281 50 0.430 None 1.000 3 2017 2018
CUI: C4015555
Disease: FOCAL SEGMENTAL GLOMERULOSCLEROSIS 9
FOCAL SEGMENTAL GLOMERULOSCLEROSIS 9 		disease Disease or Syndrome 1 5 0.600 None 1.000 2 5 2015 2018
CUI: C4049702
Disease: Focal Segmental Glomerulosclerosis, Not Otherwise Specified
Focal Segmental Glomerulosclerosis, Not Otherwise Specified 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 42 6 0.010 None 1.000 1 2018 2018
CUI: C4521256
Disease: Glomerulopathy Assessment
Glomerulopathy Assessment 		phenotype Diagnostic Procedure 84 0.300 moderate 0
CUI: C0086432
Disease: Hyalinosis, Segmental Glomerular
Hyalinosis, Segmental Glomerular 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 28 0.300 None 0
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus 		disease Nervous System Diseases Disease or Syndrome 473 37 0.110 None 1.000 1 2016 2016
CUI: C0022658
Disease: Kidney Diseases
Kidney Diseases 		group Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 1180 140 0.010 None 1.000 1 2016 2016
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		disease Eye Diseases Disease or Syndrome 83 109 0.040 None 1.000 4 2005 2019
CUI: C3151202
Disease: LEBER CONGENITAL AMAUROSIS 8
LEBER CONGENITAL AMAUROSIS 8 		disease Disease or Syndrome 2 42 0.010 None 1.000 1 2019 2019