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.
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP E
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Congenital Abnormality; Disease or Syndrome 15 6 0.900 0.833 18 4 1996 2014
CUI: C0043346
Disease: Xeroderma Pigmentosum
Xeroderma Pigmentosum
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Congenital Abnormality 100 19 0.590 1.000 11 1999 2011
CUI: C0025202
Disease: melanoma
melanoma
disease Neoplasms Neoplastic Process 2453 389 0.410 1.000 1 2007 2007
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 300 203 0.400 0
CUI: C0007117
Disease: Basal cell carcinoma
Basal cell carcinoma
disease Neoplasms Neoplastic Process 106 56 0.400 0
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group Behavior and Behavior Mechanisms; Mental Disorders; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Mental or Behavioral Dysfunction 2502 53 0.300 moderate 0
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma
disease Neoplasms Neoplastic Process 1875 224 0.300 0
CUI: C0423757
Disease: Thin skin
Thin skin
phenotype Finding 67 0.100 0
CUI: C0553723
Disease: Squamous cell carcinoma of skin
Squamous cell carcinoma of skin
disease Neoplastic Process 204 72 0.100 0
CUI: C0576962
Disease: Tooth problem
Tooth problem
phenotype Finding 58 0.100 0
CUI: C0683322
Disease: Mental impairment
Mental impairment
disease Mental or Behavioral Dysfunction 181 3 0.100 0
CUI: C0870082
Disease: Hyperkeratosis
Hyperkeratosis
group Disease or Syndrome 126 11 0.100 0
CUI: C4022018
Disease: Telangiectasia of the skin
Telangiectasia of the skin
phenotype Finding 45 0.100 0
High density lipoprotein measurement
phenotype Laboratory Procedure 323 867 0.100 1 1 2015 2015
CUI: C0392777
Disease: Poikiloderma
Poikiloderma
disease Disease or Syndrome 19 0.100 0
CUI: C0349506
Disease: Photosensitivity of skin
Photosensitivity of skin
phenotype Skin and Connective Tissue Diseases Pathologic Function 72 0.100 0
CUI: C0338656
Disease: Impaired cognition
Impaired cognition
disease Mental Disorders Mental or Behavioral Dysfunction 670 121 0.100 0
CUI: C0262444
Disease: Abnormality of the dentition
Abnormality of the dentition
phenotype Finding 62 5 0.100 0
CUI: C0259817
Disease: Xerosis
Xerosis
disease Disease or Syndrome 103 1 0.100 0
Psychomotor regression beginning in infancy
phenotype Finding 149 0.100 0
CUI: C0239105
Disease: Conjunctival telangiectasis
Conjunctival telangiectasis
disease Disease or Syndrome 14 1 0.100 0
CUI: C1138421
Disease: Spider Veins
Spider Veins
phenotype Cardiovascular Diseases Finding 22 0.100 0
CUI: C1510497
Disease: Lens Opacities
Lens Opacities
phenotype Eye Diseases Finding 338 0.100 0
CUI: C4020887
Disease: Photodysphoria
Photodysphoria
phenotype Sign or Symptom 180 0.100 0
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive
disease Disease or Syndrome 542 0.100 0