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: C1867146
Disease: Robinow Sorauf syndrome
Robinow Sorauf syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 1 1 0.600 strong 1.000 2 1 1997 1998
CUI: C1863370
Disease: Saethre-Chotzen Syndrome with Eyelid Anomalies
Saethre-Chotzen Syndrome with Eyelid Anomalies 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 1 1 0.400 None 1.000 1 1 2001 2001
CUI: C1863389
Disease: Apert-Crouzon Disease
Apert-Crouzon Disease 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 2 0.300 None 1.000 2 2005 2013
CUI: C4540299
Disease: SWEENEY-COX SYNDROME
SWEENEY-COX SYNDROME 		disease Disease or Syndrome 2 1 0.420 None 1.000 2 1 2017 2018
CUI: C0795820
Disease: Chromosome 7, trisomy 7p
Chromosome 7, trisomy 7p 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 2 0.010 None 1.000 1 2001 2001
CUI: C1849227
Disease: Cleft of chin
Cleft of chin 		phenotype Finding 2 0.100 None 0
CUI: C1863382
Disease: Absent first metatarsal
Absent first metatarsal 		phenotype Finding 2 0.100 None 0
CUI: C4021360
Disease: Partial duplication of the distal phalanx of the 3rd finger
Partial duplication of the distal phalanx of the 3rd finger 		disease Anatomical Abnormality 2 0.100 None 0
CUI: C4021365
Disease: Partial duplication of the distal phalanx of the 2nd finger
Partial duplication of the distal phalanx of the 2nd finger 		disease Anatomical Abnormality 2 0.100 None 0
CUI: C1510455
Disease: Acrocephalosyndactylia
Acrocephalosyndactylia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 3 1 0.320 None 1.000 4 2002 2013
CUI: C0265308
Disease: Baller-Gerold syndrome
Baller-Gerold syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 3 54 0.020 None 1.000 2 1999 2001
CUI: C0271468
Disease: Eustachian tube disorder
Eustachian tube disorder 		group Stomatognathic Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 3 0.010 None 1.000 1 2019 2019
CUI: C4021377
Disease: Prominent crus of helix
Prominent crus of helix 		disease Anatomical Abnormality 3 1 0.100 None 0 1
CUI: C0221348
Disease: Hereditary lymphedema and yellow nails
Hereditary lymphedema and yellow nails 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 4 0.010 None 1.000 1 2020 2020
CUI: C1838608
Disease: Radial aplasia
Radial aplasia 		disease Disease or Syndrome 4 0.010 None 1.000 1 1999 1999
CUI: C0003614
Disease: Appendiceal Neoplasms
Appendiceal Neoplasms 		group Digestive System Diseases; Neoplasms Neoplastic Process 5 0.010 None 1.000 1 2017 2017
CUI: C0031142
Disease: Peritoneal Diseases
Peritoneal Diseases 		group Digestive System Diseases Disease or Syndrome 5 0.010 None 1.000 1 2017 2017
CUI: C0343800
Disease: Acute Chagas' disease
Acute Chagas' disease 		disease Infections Disease or Syndrome 5 0.010 None 1.000 1 2019 2019
CUI: C0546952
Disease: Congenital facial asymmetry
Congenital facial asymmetry 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 5 0.010 None 1.000 1 1997 1997
CUI: C0685775
Disease: Congenital absence of jaw
Congenital absence of jaw 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Congenital Abnormality 5 0.010 None 1.000 1 2017 2017
CUI: C1708747
Disease: Low grade appendiceal mucinous neoplasm
Low grade appendiceal mucinous neoplasm 		disease Neoplastic Process 5 0.010 None 1.000 1 2019 2019
CUI: C4023418
Disease: Unicoronal synostosis
Unicoronal synostosis 		disease Anatomical Abnormality 5 1 0.010 None 1.000 1 2009 2009
CUI: C0424690
Disease: Asymmetrical skull
Asymmetrical skull 		phenotype Finding 5 0.100 None 0
CUI: C2676443
Disease: Proximal radio-ulnar synostosis
Proximal radio-ulnar synostosis 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Finding 5 0.100 None 0
CUI: C4021164
Disease: Bicoronal synostosis
Bicoronal synostosis 		disease Congenital Abnormality 6 1 0.020 None 1.000 2 2009 2018