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: C0154946
Disease: Acute angle-closure glaucoma
Acute angle-closure glaucoma 		disease Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome 14 1 0.010 None 1.000 1 2017 2017
CUI: C2316786
Disease: Chronic kidney disease stage 2
Chronic kidney disease stage 2 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 15 1 0.010 None 1.000 1 2018 2018
CUI: C0029928
Disease: Ovarian Diseases
Ovarian Diseases 		group Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Disease or Syndrome 17 5 0.010 None 1.000 1 2010 2010
CUI: C4025614
Disease: EMG: chronic denervation signs
EMG: chronic denervation signs 		phenotype Finding 18 0.100 None 0
CUI: C1834696
Disease: Hyporeflexia of lower limbs
Hyporeflexia of lower limbs 		phenotype Finding 19 1 0.100 None 0
CUI: C1832370
Disease: MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 20 48 0.010 None 1.000 1 2003 2003
CUI: C0026780
Disease: Mumps
Mumps 		disease Infections; Stomatognathic Diseases Disease or Syndrome 21 0.010 None 1.000 1 2003 2003
CUI: C0041182
Disease: Trophoblastic Neoplasms
Trophoblastic Neoplasms 		group Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process 22 0.010 None 1.000 1 1999 1999
CUI: C1856694
Disease: Areflexia of lower limbs
Areflexia of lower limbs 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 24 4 0.100 None 0
CUI: C4049883
Disease: Obstructive Ureterocele
Obstructive Ureterocele 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 25 0.010 None 1.000 1 2014 2014
CUI: C0026821
Disease: Muscle Cramp
Muscle Cramp 		phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Sign or Symptom 26 8 0.010 None 1.000 1 1 2017 2017
CUI: C0270726
Disease: Alexander Disease
Alexander Disease 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 27 99 0.030 None 1.000 3 1993 2014
CUI: C1846707
Disease: SPINOCEREBELLAR ATAXIA 17
SPINOCEREBELLAR ATAXIA 17 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 28 0.010 None 1.000 1 2018 2018
CUI: C4288754
Disease: Metastatic urothelial carcinoma
Metastatic urothelial carcinoma 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 28 0.010 None 1.000 1 2018 2018
CUI: C4021727
Disease: EMG: neuropathic changes
EMG: neuropathic changes 		phenotype Finding 28 5 0.100 None 0
CUI: C0744869
Disease: Metastatic hepatocellular carcinoma
Metastatic hepatocellular carcinoma 		disease Digestive System Diseases; Neoplasms Neoplastic Process 29 0.010 None 1.000 1 2009 2009
CUI: C0860594
Disease: Malignant melanoma, metastatic
Malignant melanoma, metastatic 		disease Neoplasms Neoplastic Process 29 5 0.010 None 1.000 1 2005 2005
CUI: C1836451
Disease: Distal lower limb amyotrophy
Distal lower limb amyotrophy 		disease Disease or Syndrome 29 8 0.100 None 0
CUI: C0007125
Disease: Carcinoma, Ehrlich Tumor
Carcinoma, Ehrlich Tumor 		disease Neoplasms Neoplastic Process; Experimental Model of Disease 30 0.010 None 1.000 1 1998 1998
CUI: C4509816
Disease: Squamous non-small cell lung cancer
Squamous non-small cell lung cancer 		disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 30 0.010 None 1.000 1 2017 2017
CUI: C1332460
Disease: Barrett's Adenocarcinoma
Barrett's Adenocarcinoma 		disease Neoplastic Process 31 0.010 None 1.000 1 1999 1999
CUI: C4283978
Disease: Primary adenocarcinoma of lower third of esophagus due to Barrett esophagus
Primary adenocarcinoma of lower third of esophagus due to Barrett esophagus 		disease Neoplastic Process 31 0.010 None 1.000 1 1999 1999
CUI: C0160390
Disease: Injury of liver
Injury of liver 		disease Digestive System Diseases; Wounds and Injuries Injury or Poisoning 36 0.200 None 1.000 1 2013 2013
CUI: C0151699
Disease: Intracranial Hemorrhage
Intracranial Hemorrhage 		group Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases Pathologic Function 40 2 0.200 None 1.000 1 2004 2004
CUI: C0031029
Disease: Periapical Granuloma
Periapical Granuloma 		disease Stomatognathic Diseases Disease or Syndrome 41 0.010 None 1.000 1 2001 2001