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: C0175754
Disease: Agenesis of corpus callosum
Agenesis of corpus callosum 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 615 45 0.020 None 0.500 2 2013 2018
CUI: C0282160
Disease: Aplasia Cutis Congenita
Aplasia Cutis Congenita 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Congenital Abnormality 393 14 0.020 None 0.500 2 2013 2018
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 757 47 0.010 None 1.000 1 2016 2016
CUI: C0220668
Disease: Congenital contractural arachnodactyly
Congenital contractural arachnodactyly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 559 48 0.010 None 1.000 1 2019 2019
CUI: C0033860
Disease: Psoriasis
Psoriasis 		disease Skin and Connective Tissue Diseases Disease or Syndrome 1308 705 0.320 None 1.000 3 2010 2019
CUI: C0003872
Disease: Arthritis, Psoriatic
Arthritis, Psoriatic 		disease Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome 450 89 0.010 None 1.000 1 2013 2013
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		disease Cardiovascular Diseases Disease or Syndrome 560 635 0.010 None 1.000 1 2012 2012
CUI: C0011847
Disease: Diabetes
Diabetes 		disease Endocrine System Diseases Disease or Syndrome 2359 710 0.010 None 1.000 1 2006 2006
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		group Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 2803 824 0.010 None 1.000 1 2006 2006
CUI: C0018799
Disease: Heart Diseases
Heart Diseases 		group Cardiovascular Diseases Disease or Syndrome 537 45 0.010 None 1.000 1 2012 2012
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		disease Skin and Connective Tissue Diseases; Immune System Diseases Disease or Syndrome 1883 1172 0.010 None 1.000 1 2012 2012
CUI: C0030246
Disease: Pustulosis of Palms and Soles
Pustulosis of Palms and Soles 		disease Skin and Connective Tissue Diseases Disease or Syndrome 74 1 0.300 None 1.000 1 2010 2010
CUI: C0031036
Disease: Polyarteritis Nodosa
Polyarteritis Nodosa 		disease Skin and Connective Tissue Diseases; Cardiovascular Diseases Disease or Syndrome 70 0.010 None 1.000 1 2019 2019
CUI: C0037274
Disease: Dermatologic disorders
Dermatologic disorders 		group Skin and Connective Tissue Diseases Disease or Syndrome 617 21 0.010 None 1.000 1 2014 2014
CUI: C0086981
Disease: Sicca Syndrome
Sicca Syndrome 		disease Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases; Stomatognathic Diseases Disease or Syndrome 132 4 0.300 None 1.000 1 2013 2013
CUI: C0263361
Disease: Psoriasis vulgaris
Psoriasis vulgaris 		disease Skin and Connective Tissue Diseases Disease or Syndrome 255 80 0.010 None 1.000 1 2013 2013
CUI: C0267111
Disease: Gastric dysplasia
Gastric dysplasia 		disease Digestive System Diseases; Neoplasms Disease or Syndrome 25 0.010 None 1.000 1 2016 2016
CUI: C0342190
Disease: C-cell hyperplasia of thyroid
C-cell hyperplasia of thyroid 		disease Pathological Conditions, Signs and Symptoms; Endocrine System Diseases Disease or Syndrome 35 16 0.010 None 1.000 1 2010 2010
CUI: C0403824
Disease: Teratozoospermia
Teratozoospermia 		disease Male Urogenital Diseases Disease or Syndrome 53 1 0.010 None 1.000 1 2016 2016
CUI: C1527336
Disease: Sjogren's Syndrome
Sjogren's Syndrome 		disease Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases; Stomatognathic Diseases Disease or Syndrome 481 47 0.300 None 1.000 1 2013 2013
CUI: C1832661
Disease: ANOPHTHALMIA AND PULMONARY HYPOPLASIA
ANOPHTHALMIA AND PULMONARY HYPOPLASIA 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Respiratory Tract Diseases Disease or Syndrome 1410 80 0.010 None 1.000 1 2005 2005
CUI: C1839780
Disease: FRAGILE X TREMOR/ATAXIA SYNDROME
FRAGILE X TREMOR/ATAXIA SYNDROME 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 62 0.010 None 1.000 1 2014 2014
CUI: C1853926
Disease: NONAKA MYOPATHY
NONAKA MYOPATHY 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 132 81 0.010 None 1.000 1 2003 2003
CUI: C3887654
Disease: POLYARTERITIS NODOSA, CHILDHOOD-ONSET
POLYARTERITIS NODOSA, CHILDHOOD-ONSET 		disease Skin and Connective Tissue Diseases; Cardiovascular Diseases Disease or Syndrome 63 12 0.010 None 1.000 1 2019 2019
CUI: C0027651
Disease: Neoplasms
Neoplasms 		group Neoplasms Neoplastic Process 10161 1644 0.100 None 0.962 52 1999 2019