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: C4310785
Disease: TRICHOTHIODYSTROPHY 6, NONPHOTOSENSITIVE
TRICHOTHIODYSTROPHY 6, NONPHOTOSENSITIVE 		disease Disease or Syndrome 1 2 0.700 moderate 1.000 1 2 2016 2016
CUI: C1840006
Disease: Mild intrauterine growth retardation
Mild intrauterine growth retardation 		phenotype Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications Finding 3 1 0.100 None 0
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: C4073178
Disease: Tiger tail banding
Tiger tail banding 		phenotype Finding 7 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: C1836933
Disease: Low-set nipples
Low-set nipples 		phenotype Finding 9 2 0.100 None 0
CUI: C1865903
Disease: Long-tract signs
Long-tract signs 		phenotype Finding 9 0.100 None 0
CUI: C1968565
Disease: Numerous pigmented freckles
Numerous pigmented freckles 		phenotype Finding 9 1 0.100 None 0
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: 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
CUI: C4024949
Disease: Generalized hyperreflexia
Generalized hyperreflexia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 12 3 0.100 None 0
CUI: C4531297
Disease: Increased mean corpuscular hemoglobin concentration
Increased mean corpuscular hemoglobin concentration 		phenotype Finding 13 0.100 None 0
CUI: C0221261
Disease: Koilonychia
Koilonychia 		phenotype Skin and Connective Tissue Diseases Sign or Symptom 14 0.100 None 0
CUI: C1859077
Disease: Aplasia/Hypoplasia of the nails
Aplasia/Hypoplasia of the nails 		phenotype Pathological Conditions, Signs and Symptoms Finding 14 4 0.100 None 0
CUI: C0574769
Disease: Loss of scalp hair
Loss of scalp hair 		phenotype Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Finding 16 4 0.100 None 0
CUI: C1854699
Disease: Diffuse cerebellar atrophy
Diffuse cerebellar atrophy 		phenotype Finding 17 4 0.100 None 0
CUI: C1854885
Disease: Cerebral dysmyelination
Cerebral dysmyelination 		phenotype Finding 17 6 0.100 None 0
CUI: C1328587
Disease: Panhypogammaglobulinemia
Panhypogammaglobulinemia 		phenotype Finding 20 2 0.100 None 0
CUI: C1856266
Disease: Coronal craniosynostosis
Coronal craniosynostosis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 20 3 0.100 None 0