Target gene | Disease/syndrome (OMIM) | Conserved gene order hs/gg | Conserved gene orderhs/dr/tn (distance in human genome) | Number of neighboring genes kept (hs/gg-hs/dr) | Chromosome locus human | Ref. |
---|---|---|---|---|---|---|
PTCH | Nevoid basal cell carcinoma (#109400), medulloblastoma (#155255), basal cell carcinoma (#605462), holoprosencephaly-7 (#610828) | 2.5 Mb; gene desert | 1.6 MB | 8/5 | 9q22.3 | [93] |
WT1 a | Wilms tumor (#194070), Deny-Drash syndrome (#194080) | >4 Mb | 3 Mb/0.4 Mb | >16/9/1 | 11p13 | [94] |
MAF (position effect) | Cataract (#610202) | >3.5 Mb; gene desert; WWOX bystander | 2.5 Mb | 5/2 | 16q23 | [95] |
CHD7 | Charge syndrome (#214800) | >2 Mb; gene desert | 0.8 Mb | 2/1 | 8q12.1 | [96] |
DLX5/DLX6 (position effect) | Ectrodactyly; split hand/foot malformation 1 (%183600) | >2 Mb; gene desert; shfm1 bystander | 1.5 Mb | 4/2 | 7q22 | [97] |
SOX9a (position effect) | Campomelic dysplasia (#114290) | >6 Mb; gene desert | ? | >8/0 | 17q24.3 | [98] |
FOXC1/FOXQ1/FOXF2 (position effect) | Glaucoma; Rieger's anomaly (#601631) | >2 Mb GMDS bystander | 1 Mb | 2/2 | 6p25.3 | [99] |
FOXC2/FOXF1/FOXL1 | Lymphedema distiachis syndrome (#153400) | >3 Mb; gene desert | 0.5 Mb | 8/1 | 16q24.1 | [100] |
FOXL2 (position effect) | Blepharophimosis, ptosis, and epicanthus inversus (BPES; #110100) | 1 Mb; gene desert; PK3CB bystander | 0.7 Mb | 3/3 | 3q22.3 | [101] |
GLI3 (position effect) | Greig cephalopolysyndactyly syndrome (GCPS; #175700) | 4 Mb | 0.4 Mb | 2/0 | 7p14.1 | [102] |
PITX2 | Rieger syndrome, type 1 (RIEG1; #180500) | >4 Mb; gene desert | 2 Mb | 8/2 | 4q25 | [103] |
POU3F4 (position effect) | Deafness 3, conductive, with stapes fixation (DFN3; #304400) | 10 Mb (including DACH2) | 2 Mb | 8/3 | xq21.1 | [85] |
SIX3/SIX2 | Holoprosencephaly 2 (#157170) | >3 Mb | 2 Mb | 9/6 | 2p21 | [104] |
SHHa (position effect) | Holoprosencephaly 3 (#142945), preaxial polydactyly 2 (#174500) | >2 Mb | 1/1.5 Mb | 7/4/3 | 7q36.3 | [83] |
TWIST | Saethre-Chotzen syndrome (#101400) | 8 Mb (including sp8 and sp4); gene desert | 2 Mb | >20/3 | 7p21 | [105] |
SALL1 a | Townes-Brocks syndrome (#107480) | >8 Mb; gene desert | 1.5/0.1 Mb | 18/3/0 | 16q12.1 | [106] |
SOX2 | Microphthalmia (MCOPS3; #206900) | 8 Mb; gene desert | 2.5 Mb | >20/2 | 3q26.33 | [86] |
PAX6a (position effect) | Aniridia, type II (AN2; #106210) | >4 Mb | 1 Mb | 18/1/3 | 11p13 | [107] |
SOX3 | Mental Retardation, X-linked (#300123) | 4 Mb | 2 Mb | ?/3 | Xq27.1 | [108] |
SHOX (position effect) | Langer mesomelic dyplasia (#248700) | 3 Mb | 2 Mb | 6/5 | Xp22.33 | [109] |