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: C0403720
Disease: X-linked recessive nephrolithiasis with renal failure
X-linked recessive nephrolithiasis with renal failure 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 10 1 0.010 None 1.000 1 2018 2018
CUI: C4524264
Disease: Uncomplicated pyelonephritis
Uncomplicated pyelonephritis 		disease Disease or Syndrome 10 0.010 None 1.000 1 2001 2001
CUI: C4285911
Disease: C5 palsy
C5 palsy 		disease Disease or Syndrome 13 0.010 None 1.000 1 2018 2018
CUI: C0242670
Disease: Persistent Vegetative State
Persistent Vegetative State 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 15 0.010 None 1.000 1 2019 2019
CUI: C1861455
Disease: STOMATOCYTOSIS I
STOMATOCYTOSIS I 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 20 3 0.010 None 1.000 1 2017 2017
CUI: C3887487
Disease: Postaxial polydactyly type A
Postaxial polydactyly type A 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 20 4 0.010 None 1.000 1 2001 2001
CUI: C0268353
Disease: Cutis laxa, x-linked
Cutis laxa, x-linked 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases Congenital Abnormality 22 10 0.010 None 1.000 1 2017 2017
CUI: C0037384
Disease: Snoring
Snoring 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 23 0.010 None 1.000 1 2018 2018
CUI: C0262380
Disease: Asymptomatic bacteriuria
Asymptomatic bacteriuria 		disease Female Urogenital Diseases and Pregnancy Complications; Infections; Male Urogenital Diseases Disease or Syndrome 23 0.010 None 1.000 1 1994 1994
CUI: C0520575
Disease: Acute pyelonephritis
Acute pyelonephritis 		disease Female Urogenital Diseases and Pregnancy Complications; Infections; Male Urogenital Diseases Disease or Syndrome 44 10 0.010 None 1.000 1 2001 2001
CUI: C0334276
Disease: Adenocarcinoma in Situ
Adenocarcinoma in Situ 		phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 55 0.010 None 1.000 1 2007 2007
CUI: C0007868
Disease: Cervical dysplasia
Cervical dysplasia 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome 56 1 0.010 None 1.000 1 2019 2019
CUI: C0040961
Disease: Tricuspid Valve Insufficiency
Tricuspid Valve Insufficiency 		disease Cardiovascular Diseases Disease or Syndrome 60 5 0.010 None 1.000 1 2017 2017
CUI: C0376670
Disease: Pancreatitis, Alcoholic
Pancreatitis, Alcoholic 		disease Digestive System Diseases; Chemically-Induced Disorders Disease or Syndrome 61 86 0.010 None < 0.001 1 1999 1999
CUI: C4551689
Disease: Sleep-Disordered Breathing
Sleep-Disordered Breathing 		disease Respiratory Tract Diseases; Nervous System Diseases Disease or Syndrome 65 0.010 None 1.000 1 2018 2018
CUI: C0034186
Disease: Pyelonephritis
Pyelonephritis 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 71 0.010 None 1.000 1 1994 1994
CUI: C0349459
Disease: Cervical intraepithelial neoplasia grade 2
Cervical intraepithelial neoplasia grade 2 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process 77 3 0.010 None 1.000 1 2003 2003
CUI: C3501843
Disease: Nonmedullary Thyroid Carcinoma
Nonmedullary Thyroid Carcinoma 		disease Neoplasms; Endocrine System Diseases Neoplastic Process 89 3 0.010 None 1.000 1 2014 2014
CUI: C0042341
Disease: Varicocele
Varicocele 		disease Male Urogenital Diseases; Cardiovascular Diseases Disease or Syndrome 99 3 0.010 None 1.000 1 2016 2016
CUI: C0338508
Disease: Optic Atrophy 1
Optic Atrophy 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Nervous System Diseases Disease or Syndrome 117 45 0.010 None 1.000 1 2018 2018
CUI: C0851140
Disease: Carcinoma in situ of uterine cervix
Carcinoma in situ of uterine cervix 		disease Neoplasms Neoplastic Process 117 18 0.010 None 1.000 1 2000 2000
CUI: C0231341
Disease: Premature aging syndrome
Premature aging syndrome 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 136 5 0.010 None 1.000 1 2017 2017
CUI: C4024896
Disease: Motor neuron atrophy
Motor neuron atrophy 		disease Disease or Syndrome 138 21 0.010 None 1.000 1 2019 2019
CUI: C0037315
Disease: Sleep Apnea Syndromes
Sleep Apnea Syndromes 		disease Respiratory Tract Diseases; Nervous System Diseases Disease or Syndrome 148 18 0.020 None 1.000 2 2017 2018
CUI: C0751295
Disease: Memory Loss
Memory Loss 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms Sign or Symptom 163 10 0.010 None 1.000 1 2017 2017