|
OMIM |
Link |
Information
gain |
01 |
|
|
kenny-caffey syndrome, type 2
|
[NCBI]
|
0.00234388
|
|
|
|
arteriosclerosis, severe juvenile
|
[NCBI]
|
0.00109818
|
|
|
|
vitreoretinal degeneration, snowflake type
|
[NCBI]
|
0.000798231
|
|
|
|
leri pleonosteosis
|
[NCBI]
|
0.000744944
|
|
|
|
CNA1
|
[NCBI]
|
0.000744944
|
|
|
|
NNO1
|
[NCBI]
|
0.000673834
|
|
|
|
OTSC1
|
[NCBI]
|
0.000572697
|
|
|
|
stapes ankylosis with broad thumb and toes
|
[NCBI]
|
0.00037863
|
|
|
|
dwarfism with stiff joints and ocular abnormalities
|
[NCBI]
|
0.000275791
|
|
|
|
GEMSS
|
[NCBI]
|
0.000244839
|
|
|
|
AIED
|
[NCBI]
|
0.000170451
|
|
|
|
NOG
|
[NCBI]
|
0.000138788
|
|
|
|
coloboma of macula and skeletal anomalies
|
[NCBI]
|
0.000137445
|
|
|
|
pilodental dysplasia with refractive errors
|
[NCBI]
|
0.000137445
|
|
|
|
NNO2
|
[NCBI]
|
0.000114976
|
|
|
|
coloboma of macula with type b brachydactyly
|
[NCBI]
|
0.000100992
|
|
|
|
CNA2
|
[NCBI]
|
9.36381e-05
|
|
|
|
PPCRA
|
[NCBI]
|
9.09269e-05
|
|
|
|
growth-mental deficiency syndrome of myhre
|
[NCBI]
|
8.47765e-05
|
|
|
|
SYNS1
|
[NCBI]
|
8.03344e-05
|
|
|
|
SYM1
|
[NCBI]
|
7.90895e-05
|
|
|
|
spondyloepimetaphyseal dysplasia, strudwick type
|
[NCBI]
|
7.48942e-05
|
|
|
|
MFRP
|
[NCBI]
|
7.43448e-05
|
|
|
|
JBS
|
[NCBI]
|
7.39965e-05
|
|
|
|
ESCS
|
[NCBI]
|
7.31462e-05
|
|
|
|
deafness, conductive, with stapes fixation
|
[NCBI]
|
7.08358e-05
|
|
|
|
CSNB1A
|
[NCBI]
|
7.01341e-05
|
|
|
|
CRB1
|
[NCBI]
|
6.8904e-05
|
|
|
|
LCA1
|
[NCBI]
|
6.593e-05
|
|
|
|
CRX
|
[NCBI]
|
6.54099e-05
|
|
|
|
RS1
|
[NCBI]
|
5.49989e-05
|
|
|
|
osteogenesis imperfecta, type i
|
[NCBI]
|
4.95875e-05
|
|
|
|
CDLS1
|
[NCBI]
|
4.44867e-05
|
|
|
|
RP
|
[NCBI]
|
1.77336e-05
|
|
