|
OMIM |
Link |
Information gain |
01 |
|
CDPX2
|
[NCBI]
|
0.0020517
|
|
|
CDPX1
|
[NCBI]
|
0.00164348
|
|
|
RCDP1
|
[NCBI]
|
0.00147693
|
|
|
chondrodysplasia punctata, autosomal dominant
|
[NCBI]
|
0.00118334
|
|
|
cerebrohepatorenal syndrome, variant types
|
[NCBI]
|
0.000948879
|
|
|
EBP
|
[NCBI]
|
0.00091947
|
|
|
maxillonasal dysplasia, binder type
|
[NCBI]
|
0.000742146
|
|
|
metatropic dwarfism
|
[NCBI]
|
0.000715905
|
|
|
acrodysostosis
|
[NCBI]
|
0.000673834
|
|
|
ACG1A
|
[NCBI]
|
0.000590318
|
|
|
chondrodysplasia punctata, tibia-metacarpal type
|
[NCBI]
|
0.000588633
|
|
|
ARSE
|
[NCBI]
|
0.000552858
|
|
|
ATD1
|
[NCBI]
|
0.00045132
|
|
|
EDM4
|
[NCBI]
|
0.00023727
|
|
|
chondrodysplasia punctata, brachytelephalangic, autosomal
|
[NCBI]
|
0.000219856
|
|
|
chondrodysplasia punctata syndrome
|
[NCBI]
|
0.000219856
|
|
|
pacman dysplasia
|
[NCBI]
|
0.000188919
|
|
|
TD1
|
[NCBI]
|
0.000185093
|
|
|
BGN
|
[NCBI]
|
0.000171281
|
|
|
RCDP3
|
[NCBI]
|
0.000165361
|
|
|
ZS
|
[NCBI]
|
0.000158142
|
|
|
RCDP2
|
[NCBI]
|
0.000158019
|
|
|
congenital hemidysplasia with ichthyosiform erythroderma and limb defects
|
[NCBI]
|
0.000127
|
|
|
vitamin k-dependent clotting factors, combined deficiency of, 1
|
[NCBI]
|
0.000127
|
|
|
bowen syndrome of multiple malformations
|
[NCBI]
|
0.000109848
|
|
|
epiphyseal dysplasia of femoral head, myopia, and deafness
|
[NCBI]
|
0.000109848
|
|
|
PEX7
|
[NCBI]
|
0.000108008
|
|
|
refsum disease, infantile form
|
[NCBI]
|
0.00010474
|
|
|
thanatophoric dysplasia, glasgow variant
|
[NCBI]
|
8.73936e-05
|
|
|
growth retardation, deafness, femoral epiphyseal dysplasia, and lacrimal duct obstruction
|
[NCBI]
|
8.73936e-05
|
|
|
adrenoleukodystrophy, autosomal neonatal form
|
[NCBI]
|
8.27352e-05
|
|
|
ARSF
|
[NCBI]
|
8.23896e-05
|
|
|
dysplasia epiphysealis hemimelica
|
[NCBI]
|
7.89299e-05
|
|
|
osteochondrosis deformans tibiae, familial infantile type
|
[NCBI]
|
7.89299e-05
|
|
|
BDA6
|
[NCBI]
|
7.89299e-05
|
|
|
SLOS
|
[NCBI]
|
7.65693e-05
|
|
|
lathosterolosis
|
[NCBI]
|
7.34399e-05
|
|
|
COL2A1
|
[NCBI]
|
7.30339e-05
|
|
|
ichthyosis, x-linked
|
[NCBI]
|
7.12989e-05
|
|
|
AGPS
|
[NCBI]
|
6.34123e-05
|
|
|
GRTH
|
[NCBI]
|
6.11154e-05
|
|
|
hyperpipecolatemia
|
[NCBI]
|
6.11154e-05
|
|
|
CD99
|
[NCBI]
|
6.0037e-05
|
|
|
hydrops-ectopic calcification-moth-eaten skeletal dysplasia
|
[NCBI]
|
5.73156e-05
|
|
|
epiphyseal dysplasia, multiple, with early-onset diabetes mellitus
|
[NCBI]
|
5.57103e-05
|
|
|
NSDHL
|
[NCBI]
|
5.55285e-05
|
|
|
ISS
|
[NCBI]
|
5.4253e-05
|
|
|
XG
|
[NCBI]
|
5.12006e-05
|
|
|
GNPAT
|
[NCBI]
|
5.12006e-05
|
|
|
PXMP3
|
[NCBI]
|
5.00962e-05
|
|
|
SLE
|
[NCBI]
|
4.97362e-05
|
|
|
ALD
|
[NCBI]
|
4.82057e-05
|
|
|
PLOSL
|
[NCBI]
|
4.58366e-05
|
|
|
ichthyosis congenita, harlequin fetus type
|
[NCBI]
|
4.50442e-05
|
|
|
PBD
|
[NCBI]
|
4.35717e-05
|
|
|
SHOX
|
[NCBI]
|
3.67782e-05
|
|
|
OA1
|
[NCBI]
|
3.62528e-05
|
|
|
THRB
|
[NCBI]
|
3.41866e-05
|
|
|
KAL1
|
[NCBI]
|
3.35852e-05
|
|
|
FDH
|
[NCBI]
|
3.29206e-05
|
|
|
mucolipidosis ii
|
[NCBI]
|
2.95422e-05
|
|
|
CHH
|
[NCBI]
|
2.57305e-05
|
|
|
ACH
|
[NCBI]
|
1.81722e-05
|
|
|
G6PD
|
[NCBI]
|
6.25808e-06
|
|