|
OMIM |
Link |
Information gain |
01 |
|
spondyloepiphyseal dysplasia tarda, toledo type
|
[NCBI]
|
0.00740158
|
|
|
spondyloepimetaphyseal dysplasia, sponastrime type
|
[NCBI]
|
0.00216024
|
|
|
dupuytren contracture
|
[NCBI]
|
0.00216024
|
|
|
arthrogryposis-like disorder
|
[NCBI]
|
0.00216024
|
|
|
dyssegmental dysplasia, rolland-desbuquois type
|
[NCBI]
|
0.00163815
|
|
|
osteolysis, hereditary, of carpal bones with nephropathy
|
[NCBI]
|
0.00144182
|
|
|
ehlers-danlos syndrome, type v
|
[NCBI]
|
0.00131475
|
|
|
spondyloenchondrodysplasia
|
[NCBI]
|
0.00131475
|
|
|
DYT2
|
[NCBI]
|
0.00122056
|
|
|
hurler syndrome
|
[NCBI]
|
0.000971986
|
|
|
mucopolysaccharidosis type iiia
|
[NCBI]
|
0.000939698
|
|
|
SDC2
|
[NCBI]
|
0.00092772
|
|
|
mucopolysaccharidosis type vi
|
[NCBI]
|
0.000879961
|
|
|
mucopolysaccharidosis type iiib
|
[NCBI]
|
0.000699035
|
|
|
MCDC1
|
[NCBI]
|
0.000648715
|
|
|
MSD
|
[NCBI]
|
0.000482193
|
|
|
neuraminidase deficiency
|
[NCBI]
|
0.000418077
|
|
|
GUSB
|
[NCBI]
|
0.000373378
|
|
|
SLE
|
[NCBI]
|
0.000336136
|
|
|
mucopolysaccharidosis type vii
|
[NCBI]
|
0.000330844
|
|
|
PF4
|
[NCBI]
|
0.000265828
|
|
|
mucopolysaccharidosis type iiid
|
[NCBI]
|
0.000264004
|
|
|
mucopolysaccharidosis type iva
|
[NCBI]
|
0.000262436
|
|
|
gm1-gangliosidosis, type i
|
[NCBI]
|
0.000252747
|
|
|
scheie syndrome
|
[NCBI]
|
0.000237976
|
|
|
mucopolysaccharidosis type ii
|
[NCBI]
|
0.000236742
|
|
|
morquio syndrome b
|
[NCBI]
|
0.00021934
|
|
|
gm1-gangliosidosis, type ii
|
[NCBI]
|
0.00021934
|
|
|
myopathy with storage of glycoproteins and glycosaminoglycans
|
[NCBI]
|
0.000212601
|
|
|
mucolipidosis ii
|
[NCBI]
|
0.000198599
|
|
|
IDUA
|
[NCBI]
|
0.000191391
|
|
|
mast cell disease
|
[NCBI]
|
0.000179598
|
|
|
fibromatosis, juvenile hyaline
|
[NCBI]
|
0.000169334
|
|
|
ARSB
|
[NCBI]
|
0.000158073
|
|
|
DMC
|
[NCBI]
|
0.000147972
|
|
|
kniest dysplasia
|
[NCBI]
|
0.000137925
|
|
|
lipoid proteinosis of urbach and wiethe
|
[NCBI]
|
0.00013365
|
|
|
chondrodysplasia calcificans metaphysealis
|
[NCBI]
|
0.000127967
|
|
|
metachromasia of fibroblasts
|
[NCBI]
|
0.000127967
|
|
|
pfeiffer-palm-teller syndrome
|
[NCBI]
|
0.000127967
|
|
|
skeletal dysplasia with telangiectases and mesodermal dysgenesis of the iris
|
[NCBI]
|
0.000127967
|
|
|
metaphyseal anadysplasia
|
[NCBI]
|
0.000127967
|
|
|
metaphyseal chondrodysplasia, pena type
|
[NCBI]
|
0.000127967
|
|
|
PXE
|
[NCBI]
|
0.000119613
|
|
|
mucolipidosis iiia
|
[NCBI]
|
0.000116953
|
|
|
osteogenesis imperfecta, type i
|
[NCBI]
|
0.000109354
|
|
|
mucolipidosis iv
|
[NCBI]
|
0.000104959
|
|
|
PCI
|
[NCBI]
|
0.000101399
|
|
|
morquio syndrome, nonkeratosulfate-excreting type
|
[NCBI]
|
9.64593e-05
|
|
|
corneal fleck dystrophy
|
[NCBI]
|
9.64593e-05
|
|
|
TFPI
|
[NCBI]
|
9.27846e-05
|
|
|
LSA
|
[NCBI]
|
9.24186e-05
|
|
|
UGDH
|
[NCBI]
|
9.06187e-05
|
|
|
mucopolysaccharidoses, unclassified types
|
[NCBI]
|
8.46184e-05
|
|
|
mannosidosis, alpha b, lysosomal
|
[NCBI]
|
7.82208e-05
|
|
|
COMP
|
[NCBI]
|
7.80867e-05
|
|
|
sandhoff disease
|
[NCBI]
|
7.41004e-05
|
|
|
weaver syndrome
|
[NCBI]
|
7.1283e-05
|
|
|
ehlers-danlos syndrome, progeroid form
|
[NCBI]
|
7.1283e-05
|
|
|
weill-marchesani syndrome, autosomal recessive
|
[NCBI]
|
7.1283e-05
|
|
|
ACG1B
|
[NCBI]
|
7.1283e-05
|
|
|
B3GAT3
|
[NCBI]
|
7.07585e-05
|
|
|
winchester syndrome
|
[NCBI]
|
6.67774e-05
|
|
|
DGI1
|
[NCBI]
|
6.30445e-05
|
|
|
PTH
|
[NCBI]
|
5.77446e-05
|
|
|
sea-blue histiocyte disease
|
[NCBI]
|
5.70878e-05
|
|
|
MNS
|
[NCBI]
|
5.70878e-05
|
|
|
PDP
|
[NCBI]
|
5.70878e-05
|
|
|
epidermolysis bullosa dystrophica, pasini type
|
[NCBI]
|
5.46335e-05
|
|
|
MCDS
|
[NCBI]
|
5.46335e-05
|
|
|
NCIE1
|
[NCBI]
|
5.46335e-05
|
|
|
plasminogen deficiency, type i
|
[NCBI]
|
5.04423e-05
|
|
|
VRNI
|
[NCBI]
|
5.00119e-05
|
|
|
mucopolysaccharidosis type iiic
|
[NCBI]
|
4.86241e-05
|
|
|
NPHS1
|
[NCBI]
|
4.86241e-05
|
|
|
LPL
|
[NCBI]
|
4.6637e-05
|
|
|
EEC3
|
[NCBI]
|
4.54062e-05
|
|
|
hurler-scheie syndrome
|
[NCBI]
|
4.54062e-05
|
|
|
CSPG2
|
[NCBI]
|
4.28946e-05
|
|
|
mannosidosis, beta a, lysosomal
|
[NCBI]
|
4.26266e-05
|
|
|
exostoses, multiple, type i
|
[NCBI]
|
4.13683e-05
|
|
|
PAPSS2
|
[NCBI]
|
4.0951e-05
|
|
|
CCAL2
|
[NCBI]
|
4.01846e-05
|
|
|
gm1-gangliosidosis, type iii
|
[NCBI]
|
3.80107e-05
|
|
|
ehlers-danlos syndrome, type iv, autosomal dominant
|
[NCBI]
|
3.51468e-05
|
|
|
PPIB
|
[NCBI]
|
3.16131e-05
|
|
|
PTN
|
[NCBI]
|
3.06494e-05
|
|
|
DCN
|
[NCBI]
|
3.05801e-05
|
|
|
graves disease
|
[NCBI]
|
2.97854e-05
|
|
|
TD1
|
[NCBI]
|
2.91332e-05
|
|
|
osteogenesis imperfecta, type iia
|
[NCBI]
|
2.91332e-05
|
|
|
DYT1
|
[NCBI]
|
2.91332e-05
|
|
|
glycogen storage disease v
|
[NCBI]
|
2.85039e-05
|
|
|
UST
|
[NCBI]
|
2.79556e-05
|
|
|
fucosidosis
|
[NCBI]
|
2.74944e-05
|
|
|
CLS
|
[NCBI]
|
2.73089e-05
|
|
|
myoclonic epilepsy of unverricht and lundborg
|
[NCBI]
|
2.67407e-05
|
|
|
FOP
|
[NCBI]
|
2.61906e-05
|
|
|
CCL21
|
[NCBI]
|
2.59294e-05
|
|
|
XYLT2
|
[NCBI]
|
2.51609e-05
|
|
|
CF
|
[NCBI]
|
2.47256e-05
|
|
|
OSM
|
[NCBI]
|
2.4421e-05
|
|
|
LI1
|
[NCBI]
|
2.41527e-05
|
|
|
AD
|
[NCBI]
|
2.40049e-05
|
|
|
dystrophia myotonica 1
|
[NCBI]
|
2.38879e-05
|
|
|
PIP5K3
|
[NCBI]
|
2.33486e-05
|
|
|
B4GALT7
|
[NCBI]
|
2.20028e-05
|
|
|
SPOCK
|
[NCBI]
|
2.20028e-05
|
|
|
SUMF1
|
[NCBI]
|
2.09317e-05
|
|
|
PRL
|
[NCBI]
|
2.09196e-05
|
|
|
APLP1
|
[NCBI]
|
1.92819e-05
|
|
|
GNS
|
[NCBI]
|
1.92819e-05
|
|
|
NEUROG3
|
[NCBI]
|
1.86181e-05
|
|
|
PRG1
|
[NCBI]
|
1.86181e-05
|
|
|
PPBP
|
[NCBI]
|
1.74999e-05
|
|
|
APOE
|
[NCBI]
|
1.67477e-05
|
|
|
PPIA
|
[NCBI]
|
1.63487e-05
|
|
|
farber lipogranulomatosis
|
[NCBI]
|
1.61751e-05
|
|
|
CHST3
|
[NCBI]
|
1.61751e-05
|
|
|
LRP1
|
[NCBI]
|
1.60905e-05
|
|
|
NAGLU
|
[NCBI]
|
1.57995e-05
|
|
|
COL9A1
|
[NCBI]
|
1.57995e-05
|
|
|
metachromatic leukodystrophy
|
[NCBI]
|
1.52722e-05
|
|
|
CCL19
|
[NCBI]
|
1.51218e-05
|
|
|
FUT2
|
[NCBI]
|
1.39881e-05
|
|
|
DYT1
|
[NCBI]
|
1.24655e-05
|
|
|
VEGF
|
[NCBI]
|
1.23056e-05
|
|
|
TGM1
|
[NCBI]
|
1.22814e-05
|
|
|
CD44
|
[NCBI]
|
1.2104e-05
|
|
|
TNFRSF6B
|
[NCBI]
|
1.19327e-05
|
|
|
NDP
|
[NCBI]
|
1.17672e-05
|
|
|
CPI
|
[NCBI]
|
1.14255e-05
|
|
|
PSIP1
|
[NCBI]
|
1.10144e-05
|
|
|
PEDF
|
[NCBI]
|
1.10041e-05
|
|
|
ICAM1
|
[NCBI]
|
1.08769e-05
|
|
|
HDGF
|
[NCBI]
|
1.04865e-05
|
|
|
BGN
|
[NCBI]
|
1.04865e-05
|
|
|
WBS
|
[NCBI]
|
9.81343e-06
|
|
|
neuraminidase deficiency with beta-galactosidase deficiency
|
[NCBI]
|
9.47703e-06
|
|
|
CEACAM5
|
[NCBI]
|
9.46514e-06
|
|
|
AVP
|
[NCBI]
|
8.63879e-06
|
|
|
APCS
|
[NCBI]
|
8.3224e-06
|
|
|
CCL17
|
[NCBI]
|
6.59509e-06
|
|
|
LAT
|
[NCBI]
|
6.38993e-06
|
|
|
HRG
|
[NCBI]
|
6.3402e-06
|
|
|
FGF1
|
[NCBI]
|
6.10032e-06
|
|
|
GFAP
|
[NCBI]
|
5.66902e-06
|
|
|
CPB2
|
[NCBI]
|
5.57748e-06
|
|
|
XDH
|
[NCBI]
|
5.36922e-06
|
|
|
CAT
|
[NCBI]
|
4.99662e-06
|
|
|
CHAT
|
[NCBI]
|
4.84001e-06
|
|
|
FGF7
|
[NCBI]
|
4.27204e-06
|
|
|
TNC
|
[NCBI]
|
4.14232e-06
|
|
|
IGFALS
|
[NCBI]
|
4.03442e-06
|
|
|
FGF2
|
[NCBI]
|
3.98176e-06
|
|
|
SPP1
|
[NCBI]
|
3.90039e-06
|
|
|
panencephalitis, subacute sclerosing
|
[NCBI]
|
3.86465e-06
|
|
|
HGF
|
[NCBI]
|
3.82533e-06
|
|
|
CASR
|
[NCBI]
|
3.61199e-06
|
|
|
MPO
|
[NCBI]
|
3.52912e-06
|
|
|
BGLAP
|
[NCBI]
|
3.32351e-06
|
|
|
FMF
|
[NCBI]
|
3.29408e-06
|
|
|
ACP5
|
[NCBI]
|
2.99578e-06
|
|
|
PRNP
|
[NCBI]
|
2.7328e-06
|
|
|
PCNA
|
[NCBI]
|
2.73137e-06
|
|
|
EGF
|
[NCBI]
|
2.45115e-06
|
|
|
ABP1
|
[NCBI]
|
2.44118e-06
|
|
|
F3
|
[NCBI]
|
2.27448e-06
|
|
|
PLG
|
[NCBI]
|
2.15315e-06
|
|
|
RP
|
[NCBI]
|
2.12764e-06
|
|
|
PTK2
|
[NCBI]
|
2.06853e-06
|
|
|
MAP2
|
[NCBI]
|
1.59602e-06
|
|
|
ADM
|
[NCBI]
|
1.3911e-06
|
|
|
RA
|
[NCBI]
|
1.38573e-06
|
|
|
TG
|
[NCBI]
|
1.37804e-06
|
|
|
IAPP
|
[NCBI]
|
1.31907e-06
|
|
|
MFS
|
[NCBI]
|
1.29581e-06
|
|
|
G6PD
|
[NCBI]
|
1.1404e-06
|
|
|
ADA
|
[NCBI]
|
1.12423e-06
|
|
|
BCHE
|
[NCBI]
|
1.0828e-06
|
|
|
GJA1
|
[NCBI]
|
1.06041e-06
|
|
|
TNF
|
[NCBI]
|
8.23759e-07
|
|
|
CJD
|
[NCBI]
|
6.72747e-07
|
|
|
NGFB
|
[NCBI]
|
6.16973e-07
|
|
|
CFTR
|
[NCBI]
|
5.3123e-07
|
|
|
LCAT
|
[NCBI]
|
4.81993e-07
|
|
|
ACHE
|
[NCBI]
|
4.12832e-07
|
|
|
GDNF
|
[NCBI]
|
3.53592e-07
|
|
|
amyloidosis vi
|
[NCBI]
|
3.33065e-07
|
|
|
APOB
|
[NCBI]
|
3.20454e-07
|
|
|
GHRH
|
[NCBI]
|
3.00533e-07
|
|
|
HP
|
[NCBI]
|
2.18927e-07
|
|
|
TF
|
[NCBI]
|
1.62937e-07
|
|
|
CTGF
|
[NCBI]
|
1.60773e-07
|
|
|
TNFRSF11B
|
[NCBI]
|
8.58828e-08
|
|
|
polycystic kidneys
|
[NCBI]
|
5.22035e-08
|
|
|
ALB
|
[NCBI]
|
4.57148e-08
|
|
|
TTR
|
[NCBI]
|
3.38019e-08
|
|
|
TS
|
[NCBI]
|
3.29206e-08
|
|
|
PTHLH
|
[NCBI]
|
1.22171e-08
|
|