rs1554317931, GLI3

N. diseases: 11
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.
1-3 toe syndactyly
CUI: C4025774
Disease: 1-3 toe syndactyly
1 0.851 0.080 7 42045460 frameshift variant G/- delins 0.700 0
3-4 finger syndactyly
CUI: C1856889
Disease: 3-4 finger syndactyly
1 0.851 0.080 7 42045460 frameshift variant G/- delins 0.700 0
Broad hallux
CUI: C1867131
Disease: Broad hallux
14 0.851 0.080 7 42045460 frameshift variant G/- delins 0.700 0
Dry skin
CUI: C0151908
Disease: Dry skin
12 0.851 0.080 7 42045460 frameshift variant G/- delins 0.700 0
Greig cephalopolysyndactyly syndrome
19 0.851 0.080 7 42045460 frameshift variant G/- delins 0.700 0
Large head (disorder)
CUI: C2243051
Disease: Large head (disorder)
116 0.851 0.080 7 42045460 frameshift variant G/- delins 0.700 0
Nasal bridge wide
CUI: C1849367
Disease: Nasal bridge wide
29 0.851 0.080 7 42045460 frameshift variant G/- delins 0.700 0
Orbital separation excessive
CUI: C0020534
Disease: Orbital separation excessive
77 0.851 0.080 7 42045460 frameshift variant G/- delins 0.700 0
Preaxial foot polydactyly
CUI: C2112942
Disease: Preaxial foot polydactyly
5 0.851 0.080 7 42045460 frameshift variant G/- delins 0.700 0
Triphalangeal thumb
CUI: C0241397
Disease: Triphalangeal thumb
15 0.851 0.080 7 42045460 frameshift variant G/- delins 0.700 0
Ulnar polydactyly of fingers
CUI: C0431904
Disease: Ulnar polydactyly of fingers
11 0.851 0.080 7 42045460 frameshift variant G/- delins 0.700 0