GLI3, GLI family zinc finger 3, 2737

N. diseases: 400; N. variants: 73
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: C4282400
Disease: Polydactyly, Postaxial, Type A1
Polydactyly, Postaxial, Type A1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 3 3 0.710 strong 1.000 5 3 1997 2019
CUI: C1868120
Disease: POSTAXIAL POLYDACTYLY, TYPE B
POSTAXIAL POLYDACTYLY, TYPE B 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 3 0.500 None 1.000 2 2007 2015
CUI: C2931760
Disease: Acrocallosal syndrome, Schinzel type
Acrocallosal syndrome, Schinzel type 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 3 0.300 None 1.000 2 2002 2013
CUI: C1861373
Disease: Y-shaped metacarpals
Y-shaped metacarpals 		phenotype Finding 3 0.100 None 0
CUI: C1969178
Disease: Mesomelic leg shortening
Mesomelic leg shortening 		phenotype Finding 3 0.100 None 0
CUI: C3276744
Disease: Absent tibia
Absent tibia 		phenotype Finding 3 0.100 None 0
CUI: C4023115
Disease: 3-4 finger cutaneous syndactyly
3-4 finger cutaneous syndactyly 		disease Congenital Abnormality 3 0.100 None 0
CUI: C4025414
Disease: Radial club hand
Radial club hand 		disease Congenital Abnormality 3 0.100 None 0
CUI: C1839749
Disease: Paroxysmal bursts of laughter
Paroxysmal bursts of laughter 		phenotype Finding 4 0.100 None 0
CUI: C1856889
Disease: 3-4 finger syndactyly
3-4 finger syndactyly 		phenotype Finding 4 1 0.100 None 0 1
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 2015 2015
CUI: C1396772
Disease: Hypoplasia of the epiglottis
Hypoplasia of the epiglottis 		disease Congenital Abnormality 5 0.100 None 0
CUI: C1850854
Disease: Increased laxity of ankles
Increased laxity of ankles 		phenotype Finding 5 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 0.010 None 1.000 1 1 2013 2013
CUI: C4273131
Disease: Branchiootic syndrome
Branchiootic syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 6 0.010 None 1.000 1 2018 2018
CUI: C1840307
Disease: Distal shortening of limbs
Distal shortening of limbs 		phenotype Finding 6 3 0.100 None 0
CUI: C4021370
Disease: Duplication of thumb phalanx
Duplication of thumb phalanx 		disease Anatomical Abnormality 6 0.100 None 0
CUI: C4021606
Disease: Mesoaxial hand polydactyly
Mesoaxial hand polydactyly 		disease Anatomical Abnormality 6 2 0.100 None 0
CUI: C0265633
Disease: Congenital absence of tibia
Congenital absence of tibia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 7 0.310 None 1.000 1 2016 2016
CUI: C0266251
Disease: Gallbladder, Agenesis Of
Gallbladder, Agenesis Of 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 7 0.010 None 1.000 1 2018 2018
CUI: C0432122
Disease: Interfrontal craniofaciosynostosis
Interfrontal craniofaciosynostosis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 7 2 0.010 None 1.000 1 2010 2010
CUI: C0796022
Disease: Lujan Fryns syndrome
Lujan Fryns syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 7 3 0.010 None 1.000 1 2019 2019
CUI: C1275078
Disease: Acrocephalopolysyndactyly type 2
Acrocephalopolysyndactyly type 2 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 7 2 0.010 None 1.000 1 2011 2011
CUI: C1868112
Disease: Crossed Polydactyly, Type I
Crossed Polydactyly, Type I 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 7 0.010 None 1.000 1 2017 2017
CUI: C3891815
Disease: Arthritis, Suppurative
Arthritis, Suppurative 		disease Infections; Musculoskeletal Diseases Disease or Syndrome 7 0.010 None 1.000 1 2017 2017