|
OMIM |
Link |
Information gain |
01 |
|
MKS1
|
[NCBI]
|
0.00348222
|
|
|
knobloch syndrome, type ii
|
[NCBI]
|
0.0020178
|
|
|
acromelic frontonasal dysostosis
|
[NCBI]
|
0.00141831
|
|
|
MKS2
|
[NCBI]
|
0.00141831
|
|
|
dyssegmental dysplasia, rolland-desbuquois type
|
[NCBI]
|
0.00131194
|
|
|
constricting bands, congenital
|
[NCBI]
|
0.00111796
|
|
|
chiari malformation type ii
|
[NCBI]
|
0.00100366
|
|
|
short stature, mental retardation, callosal agenesis, heminasal hypoplasia, microphthalmia, and atypical clefting
|
[NCBI]
|
0.00100366
|
|
|
frontofacionasal dysostosis
|
[NCBI]
|
0.000703952
|
|
|
renal-hepatic-pancreatic dysplasia with dandy-walker cyst
|
[NCBI]
|
0.000650784
|
|
|
KNO
|
[NCBI]
|
0.000596453
|
|
|
sakoda complex
|
[NCBI]
|
0.000351597
|
|
|
chiari malformation type i
|
[NCBI]
|
0.000343689
|
|
|
walker-warburg syndrome
|
[NCBI]
|
0.000341231
|
|
|
HFM
|
[NCBI]
|
0.000178874
|
|
|
murcs association
|
[NCBI]
|
0.00016129
|
|
|
COL18A1
|
[NCBI]
|
0.000131584
|
|
|
cephalocele, atretic
|
[NCBI]
|
0.000116948
|
|
|
MKS5
|
[NCBI]
|
0.000116948
|
|
|
cerebrorenodigital syndrome with limb malformations and triradiate acetabula
|
[NCBI]
|
0.000116948
|
|
|
laryngeal atresia, encephalocele, and limb deformities
|
[NCBI]
|
0.000116948
|
|
|
AFP
|
[NCBI]
|
0.000116094
|
|
|
ARX
|
[NCBI]
|
0.000113
|
|
|
dk phocomelia syndrome
|
[NCBI]
|
9.44875e-05
|
|
|
JBTS7
|
[NCBI]
|
9.44875e-05
|
|
|
omphalocele, diaphragmatic hernia, and radial ray defects
|
[NCBI]
|
8.60172e-05
|
|
|
craniotelencephalic dysplasia
|
[NCBI]
|
8.60172e-05
|
|
|
brachial amelia, forebrain defects, and facial clefts
|
[NCBI]
|
8.60172e-05
|
|
|
nuchal bleb, familial
|
[NCBI]
|
8.05207e-05
|
|
|
DDSH
|
[NCBI]
|
8.05207e-05
|
|
|
RPGRIP1L
|
[NCBI]
|
7.8499e-05
|
|
|
ARIX
|
[NCBI]
|
7.8499e-05
|
|
|
cerebellar vermis aplasia with associated features suggesting smith-lemli-opitz syndrome and meckel syndrome
|
[NCBI]
|
7.64366e-05
|
|
|
MKS1
|
[NCBI]
|
7.32984e-05
|
|
|
BBS
|
[NCBI]
|
6.86138e-05
|
|
|
vacterl association with hydrocephalus
|
[NCBI]
|
6.81699e-05
|
|
|
megalencephaly-cutis marmorata telangiectatica congenita
|
[NCBI]
|
6.27451e-05
|
|
|
hydrolethalus syndrome 1
|
[NCBI]
|
6.12812e-05
|
|
|
MKKS
|
[NCBI]
|
6.10772e-05
|
|
|
WZS
|
[NCBI]
|
5.99406e-05
|
|
|
mulibrey nanism
|
[NCBI]
|
5.45433e-05
|
|
|
crouzon syndrome
|
[NCBI]
|
5.28124e-05
|
|
|
apert syndrome
|
[NCBI]
|
4.28501e-05
|
|
|
charge syndrome
|
[NCBI]
|
4.24238e-05
|
|
|
MEB
|
[NCBI]
|
4.24238e-05
|
|
|
GNRH1
|
[NCBI]
|
2.47111e-05
|
|