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: C0423798
Disease: Increased tendency to bruise
Increased tendency to bruise 		phenotype Wounds and Injuries Finding 133 14 0.100 None 1.000 1 1 2008 2008
CUI: C0267026
Disease: Actinic cheilitis
Actinic cheilitis 		disease Stomatognathic Diseases Disease or Syndrome 64 8 0.010 None < 0.001 1 2 2015 2015
CUI: C0024636
Disease: Malocclusion
Malocclusion 		disease Stomatognathic Diseases Anatomical Abnormality 128 10 0.100 None 0
CUI: C0266061
Disease: Open Bite
Open Bite 		phenotype Stomatognathic Diseases Congenital Abnormality 38 0.100 None 0
CUI: C1827668
Disease: Tongue thrusting when swallowing, abnormal persistence beyond early childhood
Tongue thrusting when swallowing, abnormal persistence beyond early childhood 		phenotype Stomatognathic Diseases Pathologic Function 3 0.100 None 0
CUI: C0553721
Disease: Diminished sweating
Diminished sweating 		phenotype Skin and Connective Tissue Diseases; Nervous System Diseases Finding 5 7 0.100 None 1.000 1 1 2008 2008
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		disease Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases Disease or Syndrome 2723 2387 0.060 None 1.000 6 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 2015 2015
CUI: C0014743
Disease: Erythema Nodosum
Erythema Nodosum 		disease Skin and Connective Tissue Diseases; Immune System Diseases; Chemically-Induced Disorders Disease or Syndrome 51 3 0.010 None 1.000 1 2015 2015
CUI: C3541994
Disease: Drug Hypersensitivity Syndrome
Drug Hypersensitivity Syndrome 		disease Skin and Connective Tissue Diseases; Immune System Diseases; Chemically-Induced Disorders Disease or Syndrome 43 1 0.010 None 1.000 1 2018 2018
CUI: C0043324
Disease: Juvenile Xanthogranuloma
Juvenile Xanthogranuloma 		disease Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases Neoplastic Process 4 2 0.010 None 1.000 1 2 2017 2017
CUI: C0549410
Disease: Palmar-plantar erythrodysesthesia syndrome
Palmar-plantar erythrodysesthesia syndrome 		disease Skin and Connective Tissue Diseases; Chemically-Induced Disorders Disease or Syndrome 11 8 0.010 None 1.000 1 2019 2019
CUI: C0037284
Disease: Skin lesion
Skin lesion 		group Skin and Connective Tissue Diseases Disease or Syndrome 563 52 0.100 None 0.909 11 2 2009 2017
CUI: C0022572
Disease: keratoacanthoma
keratoacanthoma 		disease Skin and Connective Tissue Diseases Neoplastic Process 74 2 0.070 None 1.000 7 2 2012 2017
CUI: C0030326
Disease: Panniculitis
Panniculitis 		disease Skin and Connective Tissue Diseases Disease or Syndrome 37 2 0.050 None 1.000 5 2 2012 2019
CUI: C0022593
Disease: Keratosis
Keratosis 		disease Skin and Connective Tissue Diseases Disease or Syndrome 43 10 0.040 None 1.000 4 1 2007 2015
CUI: C0015230
Disease: Exanthema
Exanthema 		phenotype Skin and Connective Tissue Diseases Sign or Symptom 251 14 0.030 None 1.000 3 2011 2015
CUI: C0042900
Disease: Vitiligo
Vitiligo 		disease Skin and Connective Tissue Diseases Disease or Syndrome 395 249 0.030 None 1.000 3 2015 2019
CUI: C0162830
Disease: Dermatitis, Phototoxic
Dermatitis, Phototoxic 		disease Skin and Connective Tissue Diseases Disease or Syndrome 89 0.030 None 1.000 3 2016 2020
CUI: C1847835
Disease: VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 (finding)
VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 (finding) 		disease Skin and Connective Tissue Diseases Disease or Syndrome 302 92 0.030 None 1.000 3 2015 2019
CUI: C0011603
Disease: Dermatitis
Dermatitis 		disease Skin and Connective Tissue Diseases Disease or Syndrome 496 16 0.020 None 1.000 2 2 2015 2017
CUI: C0037274
Disease: Dermatologic disorders
Dermatologic disorders 		group Skin and Connective Tissue Diseases Disease or Syndrome 617 21 0.020 None 1.000 2 2015 2017
CUI: C0743086
Disease: Granulomatous dermatitis
Granulomatous dermatitis 		disease Skin and Connective Tissue Diseases Disease or Syndrome 1 0.020 None 1.000 2 2015 2019
CUI: C1527358
Disease: Phototoxicity
Phototoxicity 		disease Skin and Connective Tissue Diseases Disease or Syndrome 52 0.020 None 1.000 2 2016 2020
CUI: C1868810
Disease: Neutrophilic panniculitis
Neutrophilic panniculitis 		disease Skin and Connective Tissue Diseases Disease or Syndrome 3 0.020 None 1.000 2 2013 2019