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: C1853102
Disease: Cerebrooculofacioskeletal Syndrome 2
Cerebrooculofacioskeletal Syndrome 2 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome 1 6 0.700 None 1.000 2 6 1997 2001
CUI: C2826055
Disease: Mixed phenotype acute leukemia T/myeloid
Mixed phenotype acute leukemia T/myeloid 		disease Neoplastic Process 2 1 0.100 None 0 1
CUI: C1859312
Disease: CAMFAK syndrome
CAMFAK syndrome 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 3 0.300 None 1.000 1 2001 2001
CUI: C2931277
Disease: Pena Shokeir syndrome Type 2
Pena Shokeir syndrome Type 2 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 3 0.300 None 1.000 1 2001 2001
CUI: C4024961
Disease: Metachromatic leukodystrophy variant
Metachromatic leukodystrophy variant 		disease Disease or Syndrome 3 1 0.100 None 0 1
CUI: C1866504
Disease: Photosensitive Trichothiodystrophy
Photosensitive Trichothiodystrophy 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 4 13 0.700 None 1.000 8 12 1977 2001
CUI: C4022736
Disease: Impaired social reciprocity
Impaired social reciprocity 		disease Mental or Behavioral Dysfunction 6 0.100 None 0
CUI: C4023792
Disease: Paraplegia/paraparesis
Paraplegia/paraparesis 		disease Disease or Syndrome 6 0.100 None 0
CUI: C4024892
Disease: Congenital exfoliative erythroderma
Congenital exfoliative erythroderma 		disease Skin and Connective Tissue Diseases Disease or Syndrome 6 0.100 None 0
CUI: C4732857
Disease: Hypoplasia of mandible relative to maxilla
Hypoplasia of mandible relative to maxilla 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Congenital Abnormality 6 0.100 None 0
CUI: C0220722
Disease: Cerebrooculofacioskeletal Syndrome 1
Cerebrooculofacioskeletal Syndrome 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality 7 58 0.430 None 1.000 3 5 2001 2015
CUI: C4073178
Disease: Tiger tail banding
Tiger tail banding 		phenotype Finding 7 0.100 None 0
CUI: C0263485
Disease: Clastothrix
Clastothrix 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 8 0.100 None 0
CUI: C0263530
Disease: Longitudinal split nail
Longitudinal split nail 		phenotype Skin and Connective Tissue Diseases Finding 8 0.100 None 0
CUI: C0423813
Disease: Splits in nails (finding)
Splits in nails (finding) 		phenotype Sign or Symptom 8 0.100 None 0
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: C1836933
Disease: Low-set nipples
Low-set nipples 		phenotype Finding 9 2 0.100 None 0
CUI: C1968565
Disease: Numerous pigmented freckles
Numerous pigmented freckles 		phenotype Finding 9 1 0.100 None 0
CUI: C4304411
Disease: Xeroderma pigmentosum and Cockayne syndrome complex
Xeroderma pigmentosum and Cockayne syndrome complex 		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 10 6 0.050 None 0.800 5 1 2006 2016
CUI: C2169795
Disease: Recurrent bronchopulmonary infections
Recurrent bronchopulmonary infections 		phenotype Finding 10 0.100 None 0
CUI: C0241267
Disease: Absence of subcutaneous fat
Absence of subcutaneous fat 		phenotype Finding 11 0.100 None 0
CUI: C0278983
Disease: Non-small cell lung cancer stage IIIA
Non-small cell lung cancer stage IIIA 		disease Neoplastic Process 12 0.010 None 1.000 1 2012 2012
CUI: C1837758
Disease: Bird-like facies
Bird-like facies 		phenotype Finding 12 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