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: C1868111
Disease: Polydactyly, preaxial 4
Polydactyly, preaxial 4
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 1 1 0.700 strong 1.000 2 1 2015 2019
CUI: C0268875
Disease: Urethrorectal fistula
Urethrorectal fistula
disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 1 0.010 None 1.000 1 2001 2001
CUI: C0265878
Disease: Preductal coarctation of aorta
Preductal coarctation of aorta
disease Congenital Abnormality 1 0.100 None 0
CUI: C1841686
Disease: Absent hallux
Absent hallux
phenotype Finding 1 0.100 None 0
CUI: C1855003
Disease: Bilateral postaxial polydactyly
Bilateral postaxial polydactyly
disease Congenital Abnormality 1 0.100 None 0
CUI: C1968943
Disease: Rudimentary to absent tibiae
Rudimentary to absent tibiae
phenotype Finding 1 0.100 None 0
CUI: C4016298
Disease: POSTAXIAL POLYDACTYLY, TYPE A1/B
POSTAXIAL POLYDACTYLY, TYPE A1/B
disease Finding 1 2 0.100 None 0 2
GREIG CEPHALOPOLYSYNDACTYLY SYNDROME, SEVERE
disease Finding 1 1 0.100 None 0 1
CUI: C4021235
Disease: 1-5 toe syndactyly
1-5 toe syndactyly
disease Congenital Abnormality 1 0.100 None 0
CUI: C4022666
Disease: Partial absence of foot
Partial absence of foot
phenotype Finding 1 0.100 None 0
CUI: C4022674
Disease: Auricular tag
Auricular tag
phenotype Finding 1 0.100 None 0
CUI: C4023586
Disease: Aplasia/Hypoplasia of the vagina
Aplasia/Hypoplasia of the vagina
phenotype Finding 1 0.100 None 0
CUI: C4024086
Disease: Aplasia of the 4th metacarpal
Aplasia of the 4th metacarpal
phenotype Finding 1 0.100 None 0
CUI: C4024090
Disease: Aplasia of the 2nd metacarpal
Aplasia of the 2nd metacarpal
phenotype Finding 1 0.100 None 0
Polydactyly affecting the 4th finger
disease Congenital Abnormality 1 0.100 None 0
Polydactyly affecting the 3rd finger
disease Congenital Abnormality 1 0.100 None 0
CUI: C4024634
Disease: Distal urethral duplication
Distal urethral duplication
disease Anatomical Abnormality 1 0.100 None 0
CUI: C4025113
Disease: Proximal tibial and fibular fusion
Proximal tibial and fibular fusion
phenotype Anatomical Abnormality 1 0.100 None 0
Dysplastic distal thumb phalanges with a central hole
disease Anatomical Abnormality 1 0.100 None 0
CUI: C4025774
Disease: 1-3 toe syndactyly
1-3 toe syndactyly
disease Congenital Abnormality 1 1 0.100 None 0 1
CUI: C0263445
Disease: Acne fulminans
Acne fulminans
disease Skin and Connective Tissue Diseases Disease or Syndrome 2 0.010 None 1.000 1 2013 2013
CUI: C4048262
Disease: Hydronephrosis Due To Pujo
Hydronephrosis Due To Pujo
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 2 0.010 None 1.000 1 2016 2016
CUI: C0545617
Disease: Supernumerary metacarpal bone
Supernumerary metacarpal bone
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 2 0.100 None 0
CUI: C1840310
Disease: Midline facial capillary hemangioma
Midline facial capillary hemangioma
phenotype Finding 2 0.100 None 0
CUI: C4021333
Disease: Mesoaxial foot polydactyly
Mesoaxial foot polydactyly
disease Congenital Abnormality 2 0.100 None 0