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: C2749019
Disease: JOUBERT SYNDROME 10 (disorder)
JOUBERT SYNDROME 10 (disorder) 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 1 7 0.720 None 1.000 10 7 2001 2017
CUI: C1846175
Disease: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 2 (disorder)
SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 2 (disorder) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 2 3 0.640 strong 1.000 7 2 2001 2019
CUI: C2931426
Disease: Orofaciodigital syndrome type1
Orofaciodigital syndrome type1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 2 0.360 None 1.000 6 2004 2017
CUI: C0265251
Disease: Oto-Palato-digital syndrome type 1
Oto-Palato-digital syndrome type 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 2 4 0.300 None 1.000 1 2006 2006
CUI: C1419610
Disease: RP23 gene
RP23 gene 		disease Disease or Syndrome 2 1 0.600 moderate 1.000 1 1 2017 2017
CUI: C1858545
Disease: Facial capillary hemangioma
Facial capillary hemangioma 		phenotype Neoplasms Finding 2 0.100 None 0
CUI: C2931015
Disease: Dandy Walker variant
Dandy Walker variant 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 3 0.010 None 1.000 1 2018 2018
CUI: C2936864
Disease: Bardet-Biedl syndrome 4 (disorder)
Bardet-Biedl syndrome 4 (disorder) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases Disease or Syndrome 4 9 0.010 None 1.000 1 2014 2014
CUI: C1865598
Disease: Alveolar ridge overgrowth
Alveolar ridge overgrowth 		phenotype Finding 5 1 0.100 None 0
CUI: C0026363
Disease: Mohr Syndrome
Mohr Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 6 2 0.200 None 0
CUI: C1856202
Disease: U-Shaped upper lip vermilion
U-Shaped upper lip vermilion 		phenotype Finding 6 2 0.100 None 0
CUI: C2674738
Disease: Abnormality of toe
Abnormality of toe 		group Musculoskeletal Diseases Anatomical Abnormality 6 1 0.100 None 0
CUI: C0029166
Disease: Oral Manifestations
Oral Manifestations 		phenotype Pathological Conditions, Signs and Symptoms; Stomatognathic Diseases Sign or Symptom 7 0.010 None 1.000 1 2011 2011
CUI: C1851853
Disease: Midline notch of upper alveolar ridge
Midline notch of upper alveolar ridge 		phenotype Finding 8 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: C1857500
Disease: Broad alveolar ridges
Broad alveolar ridges 		phenotype Finding 10 0.100 None 0
CUI: C0241438
Disease: Tongue nodules
Tongue nodules 		phenotype Finding 11 0.100 None 0
CUI: C1290511
Disease: Anodontia of Permanent Dentition
Anodontia of Permanent Dentition 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Congenital Abnormality 12 0.100 None 0
CUI: C4021814
Disease: Accessory oral frenulum
Accessory oral frenulum 		disease Anatomical Abnormality 12 0.100 None 0
CUI: C0863094
Disease: Recurrent respiratory tract infections
Recurrent respiratory tract infections 		disease Disease or Syndrome 14 0.010 None 1.000 1 2013 2013
CUI: C0341059
Disease: Lip pit
Lip pit 		disease Anatomical Abnormality 14 0.100 None 0
CUI: C0431564
Disease: Lobulated tongue
Lobulated tongue 		disease Congenital Abnormality 14 0.100 None 0
CUI: C1850256
Disease: Median cleft lip
Median cleft lip 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Congenital Abnormality 15 2 0.100 None 0