rs1057520063, GLI3

N. diseases: 13
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Greig cephalopolysyndactyly syndrome
19 0.763 0.200 7 41964641 frameshift variant -/A delins 0.700 1.000 3 2010 2016
Pallister-Hall syndrome
CUI: C0265220
Disease: Pallister-Hall syndrome
39 0.763 0.200 7 41964641 frameshift variant -/A delins 0.700 1.000 3 2010 2016
Aplasia Cutis Congenita
CUI: C0282160
Disease: Aplasia Cutis Congenita
14 0.763 0.200 7 41964641 frameshift variant -/A delins 0.700 0
Brachydactyly
CUI: C0221357
Disease: Brachydactyly
43 0.763 0.200 7 41964641 frameshift variant -/A delins 0.700 0
Congenital pectus carinatum
CUI: C0158731
Disease: Congenital pectus carinatum
26 0.763 0.200 7 41964641 frameshift variant -/A delins 0.700 0
Flatfoot
CUI: C0016202
Disease: Flatfoot
38 0.763 0.200 7 41964641 frameshift variant -/A delins 0.700 0
Flexion contracture
CUI: C0333068
Disease: Flexion contracture
32 0.763 0.200 7 41964641 frameshift variant -/A delins 0.700 0
Kyphosis deformity of spine
CUI: C0022821
Disease: Kyphosis deformity of spine
10 0.763 0.200 7 41964641 frameshift variant -/A delins 0.700 0
Preaxial foot polydactyly
CUI: C2112942
Disease: Preaxial foot polydactyly
5 0.763 0.200 7 41964641 frameshift variant -/A delins 0.700 0
Scoliosis, unspecified
CUI: C0036439
Disease: Scoliosis, unspecified
135 0.763 0.200 7 41964641 frameshift variant -/A delins 0.700 0
Tapering fingers (finding)
CUI: C0426886
Disease: Tapering fingers (finding)
19 0.763 0.200 7 41964641 frameshift variant -/A delins 0.700 0
Ulnar polydactyly of fingers
CUI: C0431904
Disease: Ulnar polydactyly of fingers
11 0.763 0.200 7 41964641 frameshift variant -/A delins 0.700 0
Valgus deformities of feet
CUI: C1578482
Disease: Valgus deformities of feet
7 0.763 0.200 7 41964641 frameshift variant -/A delins 0.700 0