|
OMIM |
Link |
Information gain |
01 |
|
spondyloenchondrodysplasia
|
[NCBI]
|
0.00297342
|
|
|
RSMD1
|
[NCBI]
|
0.00122729
|
|
|
spondylometaphyseal dysplasia, type a4
|
[NCBI]
|
0.000819746
|
|
|
spondyloepiphyseal dysplasia tarda, autosomal recessive
|
[NCBI]
|
0.000819746
|
|
|
spondylodysplasia with pure brachyolmia
|
[NCBI]
|
0.000737684
|
|
|
spondyloepiphyseal dysplasia tarda, autosomal dominant
|
[NCBI]
|
0.000587372
|
|
|
spinal muscular atrophy, childhood, proximal, autosomal dominant
|
[NCBI]
|
0.000528242
|
|
|
DBQD
|
[NCBI]
|
0.000498592
|
|
|
IS1
|
[NCBI]
|
0.000359405
|
|
|
OPLL
|
[NCBI]
|
0.000310734
|
|
|
SPDA1
|
[NCBI]
|
0.000295524
|
|
|
RA
|
[NCBI]
|
0.000288603
|
|
|
HFM
|
[NCBI]
|
0.000208625
|
|
|
CRMO
|
[NCBI]
|
0.000185208
|
|
|
lumbar stenosis, familial
|
[NCBI]
|
0.000168566
|
|
|
SCDO1
|
[NCBI]
|
0.000158095
|
|
|
SLE
|
[NCBI]
|
0.000156232
|
|
|
SMA3
|
[NCBI]
|
0.000153734
|
|
|
EDMD
|
[NCBI]
|
0.00013555
|
|
|
syndesmodysplasic dwarfism
|
[NCBI]
|
0.000106668
|
|
|
cholesterol pneumonia
|
[NCBI]
|
0.000106668
|
|
|
spondyloepiphyseal dysplasia, omani type
|
[NCBI]
|
0.000106668
|
|
|
CHST3
|
[NCBI]
|
8.86222e-05
|
|
|
diastematomyelia
|
[NCBI]
|
8.42174e-05
|
|
|
spondyloepimetaphyseal dysplasia, x-linked
|
[NCBI]
|
8.42174e-05
|
|
|
spondylometaphyseal dysplasia, east african type
|
[NCBI]
|
8.42174e-05
|
|
|
spondylocostal dysostosis with anal atresia and urogenital anomalies
|
[NCBI]
|
7.57576e-05
|
|
|
humerospinal dysostosis
|
[NCBI]
|
7.02717e-05
|
|
|
osteomesopyknosis
|
[NCBI]
|
6.61982e-05
|
|
|
CHD7
|
[NCBI]
|
6.17553e-05
|
|
|
spondylocarpotarsal synostosis syndrome
|
[NCBI]
|
6.02645e-05
|
|
|
SEPN1
|
[NCBI]
|
6.00921e-05
|
|
|
IDD
|
[NCBI]
|
5.79632e-05
|
|
|
oeis complex
|
[NCBI]
|
5.79632e-05
|
|
|
PAX1
|
[NCBI]
|
5.74238e-05
|
|
|
minicore myopathy with external ophthalmoplegia
|
[NCBI]
|
5.41715e-05
|
|
|
scapuloperoneal syndrome, neurogenic, kaeser type
|
[NCBI]
|
5.41715e-05
|
|
|
hyperostosis corticalis generalisata, benign form of worth, with torus palatinus
|
[NCBI]
|
5.41715e-05
|
|
|
d-2-@hydroxyglutaric aciduria
|
[NCBI]
|
5.25701e-05
|
|
|
thiopurine s-methyltransferase deficiency
|
[NCBI]
|
5.25701e-05
|
|
|
SEDT
|
[NCBI]
|
4.97868e-05
|
|
|
PTH
|
[NCBI]
|
4.9099e-05
|
|
|
currarino syndrome
|
[NCBI]
|
4.8561e-05
|
|
|
COL6A1
|
[NCBI]
|
4.73293e-05
|
|
|
DMC
|
[NCBI]
|
4.53741e-05
|
|
|
hurler-scheie syndrome
|
[NCBI]
|
4.53741e-05
|
|
|
ZNF145
|
[NCBI]
|
4.47463e-05
|
|
|
spondyloepimetaphyseal dysplasia, strudwick type
|
[NCBI]
|
4.44424e-05
|
|
|
MCDS
|
[NCBI]
|
4.35638e-05
|
|
|
lymphedema-distichiasis syndrome
|
[NCBI]
|
4.11944e-05
|
|
|
PPAC
|
[NCBI]
|
4.04797e-05
|
|
|
TPMT
|
[NCBI]
|
4.03644e-05
|
|
|
UCMD
|
[NCBI]
|
3.97971e-05
|
|
|
RYR1
|
[NCBI]
|
3.71936e-05
|
|
|
alkaptonuria
|
[NCBI]
|
3.67817e-05
|
|
|
CCAL2
|
[NCBI]
|
3.62451e-05
|
|
|
SEDC
|
[NCBI]
|
3.29502e-05
|
|
|
charge syndrome
|
[NCBI]
|
3.25344e-05
|
|
|
homocystinuria
|
[NCBI]
|
3.23232e-05
|
|
|
exostoses, multiple, type i
|
[NCBI]
|
3.1737e-05
|
|
|
NEM3
|
[NCBI]
|
2.92491e-05
|
|
|
mucolipidosis ii
|
[NCBI]
|
2.65827e-05
|
|
|
HFE
|
[NCBI]
|
2.59628e-05
|
|
|
aortic valve disease
|
[NCBI]
|
2.57966e-05
|
|
|
ABL
|
[NCBI]
|
2.52965e-05
|
|
|
CLS
|
[NCBI]
|
2.43484e-05
|
|
|
hurler syndrome
|
[NCBI]
|
2.41214e-05
|
|
|
PRL
|
[NCBI]
|
1.79004e-05
|
|
|
ACH
|
[NCBI]
|
1.54737e-05
|
|
|
BCNS
|
[NCBI]
|
1.09701e-05
|
|
|
CRH
|
[NCBI]
|
8.24088e-06
|
|
|
MBP
|
[NCBI]
|
7.53087e-06
|
|
|
AR
|
[NCBI]
|
6.55034e-06
|
|
|
MJD
|
[NCBI]
|
6.12159e-06
|
|
|
NGFB
|
[NCBI]
|
4.75806e-06
|
|
|
polycystic kidneys
|
[NCBI]
|
2.62001e-06
|
|
|
EGF
|
[NCBI]
|
1.22209e-06
|
|
|
PD
|
[NCBI]
|
2.41091e-07
|
|
|
FMF
|
[NCBI]
|
1.36307e-07
|
|