GLI3, GLI family zinc finger 3, 2737

N. diseases: 400; N. variants: 73
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1057520063
rs1057520063 		0.763 0.200 7 41964641 frameshift variant -/A delins
CUI: C0265306
Disease: Greig cephalopolysyndactyly syndrome
Greig cephalopolysyndactyly syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 1.000 3 2010 2016
dbSNP: rs1057520063
rs1057520063 		0.763 0.200 7 41964641 frameshift variant -/A delins
CUI: C0265220
Disease: Pallister-Hall syndrome
Pallister-Hall syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 3 2010 2016
dbSNP: rs1057520063
rs1057520063 		0.763 0.200 7 41964641 frameshift variant -/A delins
CUI: C2112942
Disease: Preaxial foot polydactyly
Preaxial foot polydactyly 		0.700 0
dbSNP: rs1057520063
rs1057520063 		0.763 0.200 7 41964641 frameshift variant -/A delins
CUI: C0158731
Disease: Congenital pectus carinatum
Congenital pectus carinatum 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 0
dbSNP: rs1057520063
rs1057520063 		0.763 0.200 7 41964641 frameshift variant -/A delins
CUI: C0282160
Disease: Aplasia Cutis Congenita
Aplasia Cutis Congenita 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs1057520063
rs1057520063 		0.763 0.200 7 41964641 frameshift variant -/A delins
CUI: C0221357
Disease: Brachydactyly
Brachydactyly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs1057520063
rs1057520063 		0.763 0.200 7 41964641 frameshift variant -/A delins
CUI: C0022821
Disease: Kyphosis deformity of spine
Kyphosis deformity of spine 		Musculoskeletal Diseases 0.700 0
dbSNP: rs1057520063
rs1057520063 		0.763 0.200 7 41964641 frameshift variant -/A delins
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		Musculoskeletal Diseases 0.700 0
dbSNP: rs1057520063
rs1057520063 		0.763 0.200 7 41964641 frameshift variant -/A delins
CUI: C0431904
Disease: Ulnar polydactyly of fingers
Ulnar polydactyly of fingers 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs1057520063
rs1057520063 		0.763 0.200 7 41964641 frameshift variant -/A delins
CUI: C0426886
Disease: Tapering fingers (finding)
Tapering fingers (finding) 		0.700 0
dbSNP: rs1057520063
rs1057520063 		0.763 0.200 7 41964641 frameshift variant -/A delins
CUI: C1578482
Disease: Valgus deformities of feet
Valgus deformities of feet 		Musculoskeletal Diseases 0.700 0
dbSNP: rs1057520063
rs1057520063 		0.763 0.200 7 41964641 frameshift variant -/A delins
CUI: C0016202
Disease: Flatfoot
Flatfoot 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs1057520063
rs1057520063 		0.763 0.200 7 41964641 frameshift variant -/A delins
CUI: C0333068
Disease: Flexion contracture
Flexion contracture 		Musculoskeletal Diseases 0.700 0
dbSNP: rs116840753
rs116840753 		1.000 0.160 7 41967854 frameshift variant -/G delins
CUI: C0265220
Disease: Pallister-Hall syndrome
Pallister-Hall syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs116840764
rs116840764 		1.000 0.160 7 41966138 frameshift variant A/- del
CUI: C0265220
Disease: Pallister-Hall syndrome
Pallister-Hall syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs6949528
rs6949528 		1.000 0.040 7 42222253 intron variant A/G snv 0.87
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs1277170270
rs1277170270 		1.000 0.080 7 41965163 missense variant A/G snv
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.700 0
dbSNP: rs57734857
rs57734857 		7 42179969 intron variant A/T snv 0.30
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs116840767
rs116840767 		1.000 0.160 7 41965686 frameshift variant AA/-;A delins
CUI: C0265220
Disease: Pallister-Hall syndrome
Pallister-Hall syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1060499558
rs1060499558 		0.925 0.080 7 41965438 frameshift variant C/- delins
CUI: C4282400
Disease: Polydactyly, Postaxial, Type A1
Polydactyly, Postaxial, Type A1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 1.000 1 2017 2017
dbSNP: rs1060499558
rs1060499558 		0.925 0.080 7 41965438 frameshift variant C/- delins
CUI: C0431904
Disease: Ulnar polydactyly of fingers
Ulnar polydactyly of fingers 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 1.000 1 2017 2017
dbSNP: rs116840743
rs116840743 		1.000 0.160 7 41972428 frameshift variant C/- delins
CUI: C0265220
Disease: Pallister-Hall syndrome
Pallister-Hall syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs116840744
rs116840744 		1.000 0.160 7 41972417 frameshift variant C/- del
CUI: C0265220
Disease: Pallister-Hall syndrome
Pallister-Hall syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs116840745
rs116840745 		1.000 0.160 7 41972408 frameshift variant C/- delins
CUI: C0265220
Disease: Pallister-Hall syndrome
Pallister-Hall syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs116840765
rs116840765 		1.000 0.160 7 41966069 frameshift variant C/- del
CUI: C0265220
Disease: Pallister-Hall syndrome
Pallister-Hall syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases; Nervous System Diseases 0.700 0