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: C3150419
Disease: NEPHRONOPHTHISIS-LIKE NEPHROPATHY 1
NEPHRONOPHTHISIS-LIKE NEPHROPATHY 1
disease Disease or Syndrome 1 1 0.600 1 1 2010 2010
CUI: C4277690
Disease: Ciliopathies
Ciliopathies
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 180 1 0.320 strong 1.000 2 2010 2010
CUI: C1691228
Disease: Cystic Kidney Diseases
Cystic Kidney Diseases
group Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 72 0.300 limited 0
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group Behavior and Behavior Mechanisms; Mental Disorders; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Mental or Behavioral Dysfunction 2502 53 0.300 strong 1 2010 2010
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases
group Nutritional and Metabolic Diseases Disease or Syndrome 383 57 0.300 moderate 1 2010 2010
CUI: C0687120
Disease: Nephronophthisis
Nephronophthisis
disease Disease or Syndrome 63 40 0.120 1.000 2 2010 2010
CUI: C0234376
Disease: Action Tremor
Action Tremor
phenotype Nervous System Diseases; Pathological Conditions, Signs and Symptoms Sign or Symptom 53 1 0.100 0
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 4962 1839 0.100 1 1 2018 2018
CUI: C1858395
Disease: Tubular atrophy
Tubular atrophy
phenotype Finding 15 0.100 0
Tubular basement membrane disintegration
phenotype Finding 4 0.100 0
CUI: C1968619
Disease: Renal corticomedullary cysts
Renal corticomedullary cysts
disease Disease or Syndrome 7 0.100 0
CUI: C2316810
Disease: Chronic kidney disease stage 5
Chronic kidney disease stage 5
disease Disease or Syndrome 387 103 0.100 0
CUI: C0270736
Disease: Essential Tremor
Essential Tremor
disease Nervous System Diseases Disease or Syndrome 70 47 0.100 0
CUI: C1842937
Disease: AURAL ATRESIA, CONGENITAL
AURAL ATRESIA, CONGENITAL
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 59 9 0.010 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 638 93 0.010 1.000 1 2010 2010