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: C1861373
Disease: Y-shaped metacarpals
Y-shaped metacarpals 		phenotype Finding 3 0.100 None 0
CUI: C1866134
Disease: Wide anterior fontanel
Wide anterior fontanel 		phenotype Finding 71 5 0.100 None 0
CUI: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 426 87 0.100 None 0
CUI: C1861403
Disease: Variable expressivity
Variable expressivity 		phenotype Finding 319 0.100 None 0
CUI: C1578482
Disease: Valgus deformities of feet
Valgus deformities of feet 		disease Musculoskeletal Diseases Anatomical Abnormality 26 7 0.100 None 0 1
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: C0266294
Disease: Unilateral agenesis of kidney
Unilateral agenesis of kidney 		disease Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Congenital Abnormality 69 7 0.100 None 0
CUI: C0019322
Disease: Umbilical hernia
Umbilical hernia 		phenotype Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome 27 17 0.100 None 0 1
CUI: C0431904
Disease: Ulnar polydactyly of fingers
Ulnar polydactyly of fingers 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 92 11 0.100 None 1.000 1 3 2017 2017
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		phenotype Neoplastic Process 6626 169 0.020 None 1.000 2 2018 2018
CUI: C0041296
Disease: Tuberculosis
Tuberculosis 		disease Infections Disease or Syndrome 1256 328 0.020 None 1.000 2 2017 2020
CUI: C0241397
Disease: Triphalangeal thumb
Triphalangeal thumb 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 56 15 0.100 None 0 1
CUI: C0265535
Disease: Trigonocephaly
Trigonocephaly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 52 7 0.120 None 0.500 2 2010 2011
CUI: C1857276
Disease: Trichohepatoenteric Syndrome
Trichohepatoenteric Syndrome 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases Disease or Syndrome 424 28 0.020 None 1.000 2 1997 2016
CUI: C0151516
Disease: Thyroid Hypoplasia
Thyroid Hypoplasia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases Disease or Syndrome 14 6 0.100 None 0
CUI: C1563716
Disease: Thyroid Dysgenesis
Thyroid Dysgenesis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases Congenital Abnormality 24 5 0.100 None 0
CUI: C0080218
Disease: Tethered Cord Syndrome
Tethered Cord Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 41 2 0.300 None 1.000 1 2005 2005
CUI: C0039494
Disease: Temporomandibular Joint Disorders
Temporomandibular Joint Disorders 		group Musculoskeletal Diseases; Stomatognathic Diseases Disease or Syndrome 84 25 0.040 None 1.000 4 2017 2019
CUI: C0423113
Disease: Telecanthus
Telecanthus 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Finding 134 14 0.100 None 0
CUI: C0265654
Disease: Tarsal Coalition
Tarsal Coalition 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 22 1 0.100 None 0
CUI: C0426886
Disease: Tapering fingers (finding)
Tapering fingers (finding) 		phenotype Finding 91 19 0.100 None 0 1
CUI: C0241240
Disease: Tall stature
Tall stature 		phenotype Finding 79 14 0.100 None 0
CUI: C1301937
Disease: Talipes
Talipes 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 74 2 0.100 None 0
CUI: C0039103
Disease: Synovitis
Synovitis 		disease Musculoskeletal Diseases Disease or Syndrome 197 0.010 None 1.000 1 2016 2016
CUI: C0029427
Disease: Synovial osteochondromatosis
Synovial osteochondromatosis 		disease Musculoskeletal Diseases Disease or Syndrome 18 0.010 None 1.000 1 2005 2005