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: C0267071
Disease: Oropharyngeal Dysphagia
Oropharyngeal Dysphagia 		disease Digestive System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 43 8 0.100 None 0 1
CUI: C0020428
Disease: Hyperaldosteronism
Hyperaldosteronism 		disease Endocrine System Diseases Disease or Syndrome 84 6 0.310 None 1.000 2 2013 2015
CUI: C1384514
Disease: Conn Syndrome
Conn Syndrome 		disease Endocrine System Diseases Disease or Syndrome 82 25 0.310 None 1.000 2 2013 2015
CUI: C3713420
Disease: Familial Hyperaldosteronism
Familial Hyperaldosteronism 		disease Endocrine System Diseases Disease or Syndrome 15 0.010 None 1.000 1 2016 2016
CUI: C0028738
Disease: Nystagmus
Nystagmus 		disease Eye Diseases; Nervous System Diseases Disease or Syndrome 833 95 0.110 None 1.000 1 2017 2017
CUI: C0038379
Disease: Strabismus
Strabismus 		disease Eye Diseases; Nervous System Diseases Disease or Syndrome 716 89 0.100 None 0
CUI: C1854301
Disease: Motor delay
Motor delay 		phenotype Mental Disorders Finding 384 34 0.100 None 0
CUI: C0410203
Disease: X-linked centronuclear myopathy
X-linked centronuclear myopathy 		disease Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality 29 140 0.010 None 1.000 1 1996 1996
CUI: C0001430
Disease: Adenoma
Adenoma 		group Neoplasms Neoplastic Process 1183 103 0.310 None 1.000 1 2013 2013
CUI: C0027651
Disease: Neoplasms
Neoplasms 		group Neoplasms Neoplastic Process 10161 1644 0.010 None 1.000 1 2015 2015
CUI: C0205646
Disease: Adenoma, Basal Cell
Adenoma, Basal Cell 		disease Neoplasms Neoplastic Process 49 0.300 None 1.000 1 2013 2013
CUI: C0205647
Disease: Follicular adenoma
Follicular adenoma 		disease Neoplasms Neoplastic Process 183 5 0.300 None 1.000 1 2013 2013
CUI: C0205648
Disease: Adenoma, Microcystic
Adenoma, Microcystic 		disease Neoplasms Neoplastic Process 45 0.300 None 1.000 1 2013 2013
CUI: C0205649
Disease: Adenoma, Monomorphic
Adenoma, Monomorphic 		disease Neoplasms Neoplastic Process 36 0.300 None 1.000 1 2013 2013
CUI: C0205650
Disease: Papillary adenoma
Papillary adenoma 		disease Neoplasms Neoplastic Process 39 0.300 None 1.000 1 2013 2013
CUI: C0205651
Disease: Adenoma, Trabecular
Adenoma, Trabecular 		disease Neoplasms Neoplastic Process 37 0.300 None 1.000 1 2013 2013
CUI: C0009777
Disease: Conn Adenoma
Conn Adenoma 		disease Neoplasms; Endocrine System Diseases Neoplastic Process 107 5 0.080 None 1.000 8 2015 2016
CUI: C0001624
Disease: Adrenal Gland Neoplasms
Adrenal Gland Neoplasms 		group Neoplasms; Endocrine System Diseases Neoplastic Process 94 0.010 None 1.000 1 2015 2015
CUI: C0206667
Disease: Adrenal Cortical Adenoma
Adrenal Cortical Adenoma 		disease Neoplasms; Endocrine System Diseases Neoplastic Process 156 9 0.010 None 1.000 1 2016 2016
CUI: C0206686
Disease: Adrenocortical carcinoma
Adrenocortical carcinoma 		disease Neoplasms; Endocrine System Diseases Neoplastic Process 281 46 0.010 None 1.000 1 2016 2016
CUI: C1706762
Disease: Aldosterone-Producing Adrenal Cortex Adenoma
Aldosterone-Producing Adrenal Cortex Adenoma 		disease Neoplasms; Endocrine System Diseases Neoplastic Process 2 6 0.100 None 0 3
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6941 3417 0.020 None 1.000 2 2002 2007
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6776 2793 0.020 None 1.000 2 2002 2007
CUI: C0011265
Disease: Presenile dementia
Presenile dementia 		disease Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction 718 159 0.020 None 1.000 2 1980 1997
CUI: C0497327
Disease: Dementia
Dementia 		disease Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction 816 176 0.020 None 1.000 2 1980 1997