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: C0036416
Disease: Scleritis
Scleritis 		disease Eye Diseases Disease or Syndrome 12 0.010 None 1.000 1 2007 2007
CUI: C0039743
Disease: Thanatophoric Dysplasia
Thanatophoric Dysplasia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 12 10 0.010 None 1.000 1 1998 1998
CUI: C0085074
Disease: Granuloma Annulare
Granuloma Annulare 		disease Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome 12 2 0.010 None 1.000 1 2020 2020
CUI: C0239295
Disease: Candidiasis of the esophagus
Candidiasis of the esophagus 		disease Digestive System Diseases; Infections Disease or Syndrome 12 0.010 None 1.000 1 2017 2017
CUI: C1697878
Disease: BK virus nephropathy
BK virus nephropathy 		disease Infections Disease or Syndrome 12 0.010 None 1.000 1 2018 2018
CUI: C1860128
Disease: Recurrent candida infections
Recurrent candida infections 		phenotype Finding 12 1 0.100 None 0 1
CUI: C4688316
Disease: Refractory Breast Carcinoma
Refractory Breast Carcinoma 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 13 0.010 None 1.000 1 2016 2016
CUI: C1835686
Disease: Recurrent bacterial skin infections
Recurrent bacterial skin infections 		phenotype Finding 13 1 0.100 None 0 1
CUI: C1855067
Disease: B lymphocytopenia
B lymphocytopenia 		phenotype Immune System Diseases; Hemic and Lymphatic Diseases Finding 13 0.100 None 0
CUI: C4551680
Disease: Generalized osteoporosis
Generalized osteoporosis 		disease Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome 13 0.100 None 0
CUI: C0006848
Disease: Mucocutaneous candidiasis
Mucocutaneous candidiasis 		disease Infections; Skin and Connective Tissue Diseases Disease or Syndrome 15 0.010 None 1.000 1 2017 2017
CUI: C0019655
Disease: Histoplasmosis
Histoplasmosis 		disease Infections Disease or Syndrome 16 0.010 None 1.000 1 2013 2013
CUI: C4476554
Disease: Carotid artery dilatation
Carotid artery dilatation 		phenotype Anatomical Abnormality 16 0.100 None 0
CUI: C1512709
Disease: Chronic Lymphoproliferative Disorder of NK-Cells
Chronic Lymphoproliferative Disorder of NK-Cells 		disease Pathological Conditions, Signs and Symptoms Neoplastic Process 17 0.010 None 1.000 1 2018 2018
CUI: C4019436
Disease: Antiphospholipid antibody positivity
Antiphospholipid antibody positivity 		phenotype Finding 18 0.100 None 0
CUI: C0011636
Disease: Dermatophytosis
Dermatophytosis 		disease Infections; Skin and Connective Tissue Diseases Disease or Syndrome 19 3 0.010 None 1.000 1 2015 2015
CUI: C1302772
Disease: Primary cutaneous lymphoma
Primary cutaneous lymphoma 		disease Neoplasms; Skin and Connective Tissue Diseases; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 19 0.010 None 1.000 1 2017 2017
CUI: C0267456
Disease: Villous atrophy of intestine
Villous atrophy of intestine 		disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases Disease or Syndrome 19 0.100 None 0
CUI: C0554101
Disease: Villous atrophy
Villous atrophy 		phenotype Finding 19 0.100 None 0
CUI: C4316995
Disease: Primary Hypothyroidism
Primary Hypothyroidism 		disease Endocrine System Diseases Disease or Syndrome 19 3 0.100 None 0 1
CUI: C0266574
Disease: Ablepharon
Ablepharon 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 20 1 0.010 None 1.000 1 2018 2018
CUI: C1868678
Disease: THANATOPHORIC DYSPLASIA, TYPE I (disorder)
THANATOPHORIC DYSPLASIA, TYPE I (disorder) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 20 18 0.010 None 1.000 1 1998 1998
CUI: C1844384
Disease: Recurrent fungal infections
Recurrent fungal infections 		phenotype Finding 20 2 0.100 None 0 1
CUI: C0026780
Disease: Mumps
Mumps 		disease Infections; Stomatognathic Diseases Disease or Syndrome 21 0.010 None 1.000 1 2003 2003
CUI: C0040247
Disease: Tinea
Tinea 		disease Infections; Skin and Connective Tissue Diseases Disease or Syndrome 21 3 0.010 None 1.000 1 2015 2015