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: C3806565
Disease: XERODERMA PIGMENTOSUM, TYPE F/COCKAYNE SYNDROME
XERODERMA PIGMENTOSUM, TYPE F/COCKAYNE SYNDROME 		disease Disease or Syndrome 1 3 0.300 None 1.000 1 3 2004 2004
CUI: C1970416
Disease: XFE Progeroid Syndrome
XFE Progeroid Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 3 3 0.720 None 1.000 5 3 1988 2013
CUI: C3808988
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP Q
FANCONI ANEMIA, COMPLEMENTATION GROUP Q 		disease Disease or Syndrome 4 7 0.700 None 1.000 10 7 1988 2016
CUI: C1720811
Disease: Tumor of Rete Testis
Tumor of Rete Testis 		disease Neoplasms; Male Urogenital Diseases; Endocrine System Diseases Neoplastic Process 6 0.300 None 1.000 1 2010 2010
CUI: C0268140
Disease: Xeroderma pigmentosum, group F
Xeroderma pigmentosum, group F 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Congenital Abnormality 8 31 1.000 definitive 1.000 36 18 1988 2019
CUI: C1328440
Disease: Abnormality of amino acid metabolism
Abnormality of amino acid metabolism 		phenotype Finding 8 0.100 None 0
CUI: C4023759
Disease: Flat nasal alae
Flat nasal alae 		phenotype Finding 8 0.100 None 0
CUI: C1968565
Disease: Numerous pigmented freckles
Numerous pigmented freckles 		phenotype Finding 9 1 0.100 None 0
CUI: C0241267
Disease: Absence of subcutaneous fat
Absence of subcutaneous fat 		phenotype Finding 11 0.100 None 0
CUI: C1968564
Disease: Defective DNA repair after ultraviolet radiation damage
Defective DNA repair after ultraviolet radiation damage 		phenotype Finding 12 0.100 None 0
CUI: C0205852
Disease: Neoplasms, Embryonal and Mixed
Neoplasms, Embryonal and Mixed 		disease Neoplasms Neoplastic Process 15 0.300 None 1.000 1 2010 2010
CUI: C0751365
Disease: Cancer, Embryonal and Mixed
Cancer, Embryonal and Mixed 		disease Neoplasms Neoplastic Process 15 0.300 None 1.000 1 2010 2010
CUI: C0039584
Disease: Testicular Diseases
Testicular Diseases 		group Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome 16 1 0.010 None 1.000 1 2010 2010
CUI: C0376628
Disease: Chromosome Breakage
Chromosome Breakage 		phenotype Pathological Conditions, Signs and Symptoms Cell or Molecular Dysfunction 17 0.100 None 0
CUI: C0751364
Disease: Cancer, Embryonal
Cancer, Embryonal 		phenotype Neoplasms Neoplastic Process 18 0.300 None 1.000 1 2010 2010
CUI: C0014390
Disease: Entropion
Entropion 		disease Eye Diseases Disease or Syndrome 18 1 0.100 None 0
CUI: C0152233
Disease: Congenital ankyloblepharon
Congenital ankyloblepharon 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 18 0.100 None 0
CUI: C0339182
Disease: Ankyloblepharon
Ankyloblepharon 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Anatomical Abnormality 18 0.100 None 0
CUI: C0268141
Disease: Xeroderma pigmentosum, group G
Xeroderma pigmentosum, group G 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 20 31 0.020 None 1.000 2 1 2011 2018
CUI: C0239105
Disease: Conjunctival telangiectasis
Conjunctival telangiectasis 		disease Disease or Syndrome 20 1 0.100 None 0
CUI: C0392777
Disease: Poikiloderma
Poikiloderma 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 20 2 0.100 None 0
CUI: C0241391
Disease: Thumb absent
Thumb absent 		phenotype Finding 21 0.100 None 0
CUI: C3278811
Disease: Thumb aplasia
Thumb aplasia 		disease Musculoskeletal Diseases Congenital Abnormality 22 0.100 None 0
CUI: C4022016
Disease: Abnormality of the preputium
Abnormality of the preputium 		disease Anatomical Abnormality 22 0.100 None 0
CUI: C4023917
Disease: Aplasia/Hypoplasia of the uvula
Aplasia/Hypoplasia of the uvula 		phenotype Anatomical Abnormality 22 0.100 None 0