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: C1112155
Disease: Hereditary non-polyposis colorectal cancer syndrome
Hereditary non-polyposis colorectal cancer syndrome 		disease Congenital Abnormality 31 0.500 limited 1.000 4 2010 2016
CUI: C4020965
Disease: Cardiac diverticulum
Cardiac diverticulum 		disease Congenital Abnormality 14 0.100 None 0
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 394 173 0.100 None 0.900 10 2010 2019
CUI: C3469521
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 360 194 0.100 None 0.900 10 2010 2019
CUI: C3553774
Disease: INTERSTITIAL NEPHRITIS, KARYOMEGALIC
INTERSTITIAL NEPHRITIS, KARYOMEGALIC 		disease Disease or Syndrome 9 11 0.930 strong 1.000 7 11 2006 2020
CUI: C0020179
Disease: Huntington Disease
Huntington Disease 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders Disease or Syndrome 978 115 0.120 None 1.000 3 2 2016 2020
CUI: C0477729
Disease: Other chronic tubulo-interstitial nephritis
Other chronic tubulo-interstitial nephritis 		disease Disease or Syndrome 1 0.200 None 1.000 3 2016 2016
CUI: C1392616
Disease: Nonobstructive chronic pyelonephritis NOS
Nonobstructive chronic pyelonephritis NOS 		disease Disease or Syndrome 1 0.200 None 1.000 3 2016 2016
CUI: C0027707
Disease: Nephritis, Interstitial
Nephritis, Interstitial 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 79 5 0.310 strong 1.000 2 2012 2016
CUI: C1561643
Disease: Chronic Kidney Diseases
Chronic Kidney Diseases 		group Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 1074 306 0.310 strong 1.000 2 2012 2016
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 441 120 0.010 None 1.000 1 1 2020 2020
CUI: C0018790
Disease: Cardiac Arrest
Cardiac Arrest 		disease Cardiovascular Diseases Disease or Syndrome 411 50 0.010 None 1.000 1 1 2016 2016
CUI: C0041349
Disease: Nephritis, Tubulointerstitial
Nephritis, Tubulointerstitial 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 92 6 0.110 None 1.000 1 2016 2016
CUI: C0151650
Disease: Renal fibrosis
Renal fibrosis 		disease Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 570 1 0.010 None 1.000 1 2012 2012
CUI: C0270971
Disease: Floppy infant syndrome
Floppy infant syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 31 6 0.010 None 1.000 1 2010 2010
CUI: C2931118
Disease: Megalocytic interstitial nephritis
Megalocytic interstitial nephritis 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 1 0.300 None 1.000 1 2012 2012
CUI: C3887499
Disease: Renal cyst
Renal cyst 		phenotype Pathological Conditions, Signs and Symptoms; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 170 17 0.010 None 1.000 1 2012 2012
CUI: C0013384
Disease: Dyskinetic syndrome
Dyskinetic syndrome 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 316 42 0.100 None 0
CUI: C0024523
Disease: Malabsorption Syndrome
Malabsorption Syndrome 		group Digestive System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 239 0.100 None 0
CUI: C0030554
Disease: Paresthesia
Paresthesia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 121 8 0.100 None 0
CUI: C0149931
Disease: Migraine Disorders
Migraine Disorders 		group Nervous System Diseases Disease or Syndrome 512 264 0.100 None 0
CUI: C0375206
Disease: Hemiplegia/hemiparesis
Hemiplegia/hemiparesis 		disease Disease or Syndrome 112 2 0.100 None 0
CUI: C0687120
Disease: Nephronophthisis
Nephronophthisis 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 96 103 0.100 None 0
CUI: C1257915
Disease: Intestinal Polyposis
Intestinal Polyposis 		disease Digestive System Diseases Disease or Syndrome 49 3 0.100 None 0
CUI: C1836830
Disease: Developmental regression
Developmental regression 		disease Mental Disorders Disease or Syndrome 333 80 0.100 None 0