|
OMIM |
Link |
Information gain |
01 |
|
omodysplasia, generalized form
|
[NCBI]
|
0.00247056
|
|
|
DBQD
|
[NCBI]
|
0.00247056
|
|
|
epiphyseal dysplasia, multiple, with miniepiphyses
|
[NCBI]
|
0.00247056
|
|
|
epiphyseal dysplasia, multiple, with severe proximal femoral dysplasia
|
[NCBI]
|
0.00247056
|
|
|
ACG1A
|
[NCBI]
|
0.00194777
|
|
|
CHED1
|
[NCBI]
|
0.00175075
|
|
|
spondyloepiphyseal dysplasia tarda, autosomal dominant
|
[NCBI]
|
0.00162298
|
|
|
DJS
|
[NCBI]
|
0.000777061
|
|
|
SLC26A2
|
[NCBI]
|
0.000664856
|
|
|
diastrophic dysplasia
|
[NCBI]
|
0.00065905
|
|
|
EDM4
|
[NCBI]
|
0.000626727
|
|
|
CHED2
|
[NCBI]
|
0.000460566
|
|
|
AOII
|
[NCBI]
|
0.000460566
|
|
|
SLC22A6
|
[NCBI]
|
0.000384191
|
|
|
ABCC2
|
[NCBI]
|
0.000356045
|
|
|
pseudodiastrophic dysplasia
|
[NCBI]
|
0.000340563
|
|
|
EDM1
|
[NCBI]
|
0.000221824
|
|
|
CLCNKB
|
[NCBI]
|
0.000211902
|
|
|
SLC4A11
|
[NCBI]
|
0.000192024
|
|
|
ABCC1
|
[NCBI]
|
0.000177934
|
|
|
corneal dystrophy and perceptive deafness
|
[NCBI]
|
0.000169965
|
|
|
spondyloepimetaphyseal dysplasia, x-linked
|
[NCBI]
|
0.000169965
|
|
|
ABCB11
|
[NCBI]
|
0.000150481
|
|
|
SLC4A2
|
[NCBI]
|
0.000135424
|
|
|
EDM3
|
[NCBI]
|
0.000118746
|
|
|
RTADR
|
[NCBI]
|
0.000113001
|
|
|
ACG1B
|
[NCBI]
|
0.000113001
|
|
|
EDM2
|
[NCBI]
|
0.000113001
|
|
|
renal tubular acidosis, proximal, with ocular abnormalities and mental retardation
|
[NCBI]
|
0.000108425
|
|
|
SLC26A5
|
[NCBI]
|
0.00010575
|
|
|
bartter syndrome, infantile, with sensorineural deafness
|
[NCBI]
|
0.000104623
|
|
|
gitelman syndrome
|
[NCBI]
|
8.80404e-05
|
|
|
SLCO1A2
|
[NCBI]
|
8.24659e-05
|
|
|
SLC26A8
|
[NCBI]
|
8.24659e-05
|
|
|
SLC26A1
|
[NCBI]
|
8.24659e-05
|
|
|
PNKD1
|
[NCBI]
|
7.97357e-05
|
|
|
sialuria, finnish type
|
[NCBI]
|
7.36992e-05
|
|
|
infantile sialic acid storage disorder
|
[NCBI]
|
7.36992e-05
|
|
|
bartter syndrome, type 3
|
[NCBI]
|
7.12032e-05
|
|
|
osteogenesis imperfecta, type iia
|
[NCBI]
|
6.89612e-05
|
|
|
SLC22A9
|
[NCBI]
|
6.44535e-05
|
|
|
SLCO1B1
|
[NCBI]
|
6.44535e-05
|
|
|
solute carrier family 26 (anion transporter), member 6: slc26a6
|
[NCBI]
|
6.44535e-05
|
|
|
bsnd gene
|
[NCBI]
|
6.20246e-05
|
|
|
SLC22A7
|
[NCBI]
|
6.20246e-05
|
|
|
SLC4A3
|
[NCBI]
|
6.00521e-05
|
|
|
CLCNKA
|
[NCBI]
|
6.00521e-05
|
|
|
ABCC5
|
[NCBI]
|
5.83902e-05
|
|
|
ABCC4
|
[NCBI]
|
5.83902e-05
|
|
|
PSACH
|
[NCBI]
|
5.30568e-05
|
|
|
osteogenesis imperfecta, type i
|
[NCBI]
|
5.20597e-05
|
|
|
LPI
|
[NCBI]
|
4.79463e-05
|
|
|
SLC22A8
|
[NCBI]
|
4.76933e-05
|
|
|
ABCC3
|
[NCBI]
|
4.61291e-05
|
|
|
SLC13A4
|
[NCBI]
|
4.1211e-05
|
|
|
SLC22A10
|
[NCBI]
|
4.1211e-05
|
|
|
SLC26A9
|
[NCBI]
|
4.1211e-05
|
|
|
SLC26A11
|
[NCBI]
|
4.1211e-05
|
|
|
SLC35B3
|
[NCBI]
|
4.1211e-05
|
|
|
CFTR
|
[NCBI]
|
3.40118e-05
|
|
|
SLC26A7
|
[NCBI]
|
3.37899e-05
|
|
|
solute carrier family 22 (organic anion/cation transporter), member 11
|
[NCBI]
|
3.37899e-05
|
|
|
SLC4A9
|
[NCBI]
|
3.37899e-05
|
|
|
RACGAP1
|
[NCBI]
|
3.09904e-05
|
|
|
ATP6V0A4
|
[NCBI]
|
3.09904e-05
|
|
|
SLCO1B3
|
[NCBI]
|
3.09904e-05
|
|
|
FABP6
|
[NCBI]
|
3.09904e-05
|
|
|
SLC25A19
|
[NCBI]
|
2.78226e-05
|
|
|
KLF15
|
[NCBI]
|
2.78226e-05
|
|
|
myofibrillogenesis regulator 1
|
[NCBI]
|
2.67468e-05
|
|
|
FOXI1
|
[NCBI]
|
2.58526e-05
|
|
|
COL9A3
|
[NCBI]
|
2.50874e-05
|
|
|
PVALB
|
[NCBI]
|
2.44187e-05
|
|
|
PDZK1
|
[NCBI]
|
2.44187e-05
|
|
|
COL9A2
|
[NCBI]
|
2.44187e-05
|
|
|
SLC4A4
|
[NCBI]
|
2.32909e-05
|
|
|
MATN3
|
[NCBI]
|
2.23615e-05
|
|
|
SLC17A5
|
[NCBI]
|
2.23615e-05
|
|
|
COL9A1
|
[NCBI]
|
2.15712e-05
|
|
|
SLC26A3
|
[NCBI]
|
2.12164e-05
|
|
|
SSTR5
|
[NCBI]
|
2.12164e-05
|
|
|
SLC22A1
|
[NCBI]
|
2.08839e-05
|
|
|
COMP
|
[NCBI]
|
2.05242e-05
|
|
|
ABCC6
|
[NCBI]
|
1.66802e-05
|
|
|
TNF
|
[NCBI]
|
1.3498e-05
|
|
|
MVP
|
[NCBI]
|
1.25514e-05
|
|
|
SLC11A2
|
[NCBI]
|
1.21218e-05
|
|
|
AQP1
|
[NCBI]
|
1.16727e-05
|
|
|
ABCB1
|
[NCBI]
|
9.43735e-06
|
|
|
LEP
|
[NCBI]
|
9.01951e-06
|
|
|
FGFR3
|
[NCBI]
|
6.69963e-06
|
|
|
NR1I2
|
[NCBI]
|
5.86602e-06
|
|
|
GAPDH
|
[NCBI]
|
1.59929e-06
|
|
|
EPO
|
[NCBI]
|
7.43203e-07
|
|
|
TG
|
[NCBI]
|
4.69074e-07
|
|
|
BDNF
|
[NCBI]
|
3.80272e-07
|
|
|
CF
|
[NCBI]
|
1.04144e-07
|
|
|
AD
|
[NCBI]
|
3.29219e-10
|
|