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: C0042818
Disease: Visual discomfort
Visual discomfort 		phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases Sign or Symptom 1 0.010 None 1.000 1 2019 2019
CUI: C0342748
Disease: Glycogen synthase deficiency
Glycogen synthase deficiency 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 2 0.010 None 1.000 1 2019 2019
CUI: C3553264
Disease: JOUBERT SYNDROME 17
JOUBERT SYNDROME 17 		disease Disease or Syndrome 5 65 0.800 None 1.000 14 65 2012 2018
CUI: C4021606
Disease: Mesoaxial hand polydactyly
Mesoaxial hand polydactyly 		disease Anatomical Abnormality 6 2 0.100 None 0
CUI: C1851853
Disease: Midline notch of upper alveolar ridge
Midline notch of upper alveolar ridge 		phenotype Finding 8 0.100 None 0
CUI: C4020690
Disease: Abnormality of peripheral nerve conduction
Abnormality of peripheral nerve conduction 		phenotype Finding 8 0.100 None 0
CUI: C4021581
Disease: Distal upper limb amyotrophy
Distal upper limb amyotrophy 		disease Disease or Syndrome 8 1 0.100 None 0
CUI: C1848595
Disease: Mesoaxial polydactyly
Mesoaxial polydactyly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Anatomical Abnormality 9 0.100 None 0
CUI: C1848597
Disease: Central Y-shaped metacarpal
Central Y-shaped metacarpal 		phenotype Finding 9 0.100 None 0
CUI: C1856655
Disease: Hypoplasia of olfactory tract
Hypoplasia of olfactory tract 		phenotype Finding 9 0.100 None 0
CUI: C2112942
Disease: Preaxial foot polydactyly
Preaxial foot polydactyly 		phenotype Finding 10 5 0.100 None 0
CUI: C2745997
Disease: OROFACIODIGITAL SYNDROME VI
OROFACIODIGITAL SYNDROME VI 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 11 29 0.750 None 1.000 15 29 2012 2019
CUI: C0241438
Disease: Tongue nodules
Tongue nodules 		phenotype Finding 11 0.100 None 0
CUI: C4021814
Disease: Accessory oral frenulum
Accessory oral frenulum 		disease Anatomical Abnormality 12 0.100 None 0
CUI: C0431564
Disease: Lobulated tongue
Lobulated tongue 		disease Congenital Abnormality 14 0.100 None 0
CUI: C1865384
Disease: Amyotrophy, monomelic
Amyotrophy, monomelic 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 15 2 0.310 None 1.000 1 1 2012 2012
CUI: C1843505
Disease: Degeneration of anterior horn cells
Degeneration of anterior horn cells 		phenotype Nervous System Diseases Finding 15 0.100 None 0
CUI: C0431565
Disease: Hamartoma of tongue
Hamartoma of tongue 		phenotype Neoplasms; Stomatognathic Diseases Finding 18 1 0.100 None 0
CUI: C0029294
Disease: Orofaciodigital Syndromes
Orofaciodigital Syndromes 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 19 1 0.010 None 1.000 1 2019 2019
CUI: C4025881
Disease: Abnormal oral frenulum morphology
Abnormal oral frenulum morphology 		disease Anatomical Abnormality 19 1 0.100 None 0
CUI: C1709353
Disease: Osteofibrous Dysplasia
Osteofibrous Dysplasia 		disease Musculoskeletal Diseases Disease or Syndrome 25 0.020 None 1.000 2 2014 2018
CUI: C4551568
Disease: Joubert syndrome 1
Joubert syndrome 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases Disease or Syndrome 26 31 0.400 None 1.000 2 2 2012 2012
CUI: C0342418
Disease: Hypothalamic hamartomas
Hypothalamic hamartomas 		disease Neoplasms; Nervous System Diseases Congenital Abnormality 29 0.100 None 0
CUI: C0020578
Disease: Hyperventilation
Hyperventilation 		phenotype Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases Finding 31 2 0.100 None 0
CUI: C3806218
Disease: Episodic tachypnea
Episodic tachypnea 		phenotype Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases Finding 31 1 0.100 None 0