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: C0279637
Disease: Anal carcinoma
Anal carcinoma 		disease Digestive System Diseases; Neoplasms Neoplastic Process 42 0.010 None 1.000 1 2017 2017
CUI: C1845055
Disease: ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED
ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 42 32 0.010 None 1.000 1 2013 2013
CUI: C3146254
Disease: Stage III Colon Cancer AJCC v7
Stage III Colon Cancer AJCC v7 		disease Neoplastic Process 42 3 0.010 None 1.000 1 2014 2014
CUI: C4525124
Disease: Stage III Colon Cancer AJCC v8
Stage III Colon Cancer AJCC v8 		disease Neoplastic Process 42 3 0.010 None 1.000 1 2014 2014
CUI: C0278480
Disease: Stage III Colon Cancer
Stage III Colon Cancer 		disease Digestive System Diseases; Neoplasms Neoplastic Process 43 3 0.010 None 1.000 1 2014 2014
CUI: C0039446
Disease: Telangiectasis
Telangiectasis 		disease Cardiovascular Diseases Finding 43 0.100 None 0
CUI: C1271100
Disease: Lower limb spasticity
Lower limb spasticity 		phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Finding 43 5 0.100 None 0 1
CUI: C0234979
Disease: Dysdiadochokinesis
Dysdiadochokinesis 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 49 7 0.100 None 0
CUI: C1514428
Disease: Primary peritoneal carcinoma
Primary peritoneal carcinoma 		disease Digestive System Diseases; Neoplasms Neoplastic Process 49 0.100 None 0
CUI: C0262404
Disease: Cerebellar degeneration
Cerebellar degeneration 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 60 0.020 None 1.000 2 2010 2013
CUI: C1333600
Disease: Hereditary Malignant Neoplasm
Hereditary Malignant Neoplasm 		disease Neoplasms Neoplastic Process 63 18 0.020 None 1.000 2 2008 2017
CUI: C0424448
Disease: Mask-like facies
Mask-like facies 		phenotype Nervous System Diseases Finding 64 2 0.100 None 0
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Endocrine System Diseases Neoplastic Process 74 2117 0.400 None 1.000 3 1 2003 2016
CUI: C0948896
Disease: Primary hypogonadism
Primary hypogonadism 		disease Endocrine System Diseases Disease or Syndrome 80 6 0.100 None 0
CUI: C0271270
Disease: Oculovestibuloauditory syndrome
Oculovestibuloauditory syndrome 		disease Eye Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 87 3 0.110 None 1.000 1 1 2011 2011
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms Neoplastic Process 88 6387 0.100 None 1.000 21 55 1999 2017
CUI: C3489733
Disease: Oculomotor apraxia
Oculomotor apraxia 		disease Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases; Behavior and Behavior Mechanisms; Cardiovascular Diseases Disease or Syndrome 92 14 0.110 None 1.000 1 2 2011 2011
CUI: C1112256
Disease: Sensorimotor neuropathy
Sensorimotor neuropathy 		disease Disease or Syndrome 93 21 0.100 None 0
CUI: C0398791
Disease: Nijmegen Breakage Syndrome
Nijmegen Breakage Syndrome 		disease Nutritional and Metabolic Diseases Disease or Syndrome 94 144 0.100 None 1.000 16 1999 2017
CUI: C0850703
Disease: Frequent falls
Frequent falls 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 94 4 0.100 None 0
CUI: C0013132
Disease: Drooling
Drooling 		phenotype Stomatognathic Diseases Finding 95 14 0.100 None 0
CUI: C0234376
Disease: Action Tremor
Action Tremor 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 95 2 0.100 None 0
CUI: C1840379
Disease: Cerebellar vermis hypoplasia
Cerebellar vermis hypoplasia 		phenotype Finding 100 26 0.100 None 0
CUI: C0023531
Disease: Leukoplakia
Leukoplakia 		disease Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 102 8 0.010 None 1.000 1 1 2013 2013
CUI: C0598589
Disease: Inherited neuropathies
Inherited neuropathies 		disease Nervous System Diseases Disease or Syndrome 104 4 0.300 None 0