|
OMIM |
Link |
Information gain |
01 |
|
CPL
|
[NCBI]
|
0.00276787
|
|
|
myeloproliferative syndrome, transient
|
[NCBI]
|
0.00100672
|
|
|
campomelia, cumming type
|
[NCBI]
|
0.00072749
|
|
|
mucopolysaccharidosis type vii
|
[NCBI]
|
0.000694237
|
|
|
short rib-polydactyly syndrome, type iv
|
[NCBI]
|
0.000528242
|
|
|
NLS
|
[NCBI]
|
0.000418126
|
|
|
FRNS
|
[NCBI]
|
0.000395833
|
|
|
hydrops-ectopic calcification-moth-eaten skeletal dysplasia
|
[NCBI]
|
0.000383102
|
|
|
klippel-trenaunay-weber syndrome
|
[NCBI]
|
0.000257155
|
|
|
hydrops fetalis, idiopathic
|
[NCBI]
|
0.00021441
|
|
|
simpson-golabi-behmel syndrome, type 2
|
[NCBI]
|
0.000200428
|
|
|
chylothorax, congenital
|
[NCBI]
|
0.000200428
|
|
|
GUSB
|
[NCBI]
|
0.000182845
|
|
|
gaucher disease, perinatal lethal
|
[NCBI]
|
0.000160884
|
|
|
glycogen storage disease iv
|
[NCBI]
|
0.000126472
|
|
|
CDG1A
|
[NCBI]
|
0.000110287
|
|
|
SPTB
|
[NCBI]
|
0.000105718
|
|
|
thalassemias
|
[NCBI]
|
0.000100038
|
|
|
bone fragility with craniosynostosis, ocular proptosis, hydrocephalus, and distinctive facial features
|
[NCBI]
|
9.15641e-05
|
|
|
CDG1K
|
[NCBI]
|
8.60642e-05
|
|
|
dehydrated hereditary stomatocytosis, pseudohyperkalemia, and perinatal edema
|
[NCBI]
|
8.60642e-05
|
|
|
nuchal bleb, familial
|
[NCBI]
|
8.60642e-05
|
|
|
yellow nail syndrome
|
[NCBI]
|
8.19766e-05
|
|
|
DBA
|
[NCBI]
|
8.09077e-05
|
|
|
STHAG1
|
[NCBI]
|
7.87209e-05
|
|
|
BOCD
|
[NCBI]
|
6.98797e-05
|
|
|
HBA1
|
[NCBI]
|
6.91972e-05
|
|
|
LQT3
|
[NCBI]
|
6.54529e-05
|
|
|
lymphedema, hereditary, i
|
[NCBI]
|
6.54529e-05
|
|
|
ACG2
|
[NCBI]
|
6.42131e-05
|
|
|
caffey disease
|
[NCBI]
|
6.30626e-05
|
|
|
dystrophia myotonica 1
|
[NCBI]
|
6.0453e-05
|
|
|
anemia, dyserythropoietic congenital, type i
|
[NCBI]
|
6.00383e-05
|
|
|
RTD
|
[NCBI]
|
5.7498e-05
|
|
|
AFP
|
[NCBI]
|
5.68492e-05
|
|
|
PHA
|
[NCBI]
|
5.40013e-05
|
|
|
GBE1
|
[NCBI]
|
5.36549e-05
|
|
|
infantile sialic acid storage disorder
|
[NCBI]
|
5.3386e-05
|
|
|
SLC17A5
|
[NCBI]
|
5.01662e-05
|
|
|
EFE
|
[NCBI]
|
5.01275e-05
|
|
|
SGBS1
|
[NCBI]
|
4.96446e-05
|
|
|
LBR
|
[NCBI]
|
4.70416e-05
|
|
|
cardiofaciocutaneous syndrome
|
[NCBI]
|
4.6627e-05
|
|
|
PTHR1
|
[NCBI]
|
4.51022e-05
|
|
|
costello syndrome
|
[NCBI]
|
4.22231e-05
|
|
|
neuraminidase deficiency with beta-galactosidase deficiency
|
[NCBI]
|
3.88137e-05
|
|
|
HRAS
|
[NCBI]
|
3.77166e-05
|
|
|
SCN5A
|
[NCBI]
|
3.69197e-05
|
|
|
GBA
|
[NCBI]
|
3.19385e-05
|
|
|
PKD1
|
[NCBI]
|
2.90002e-05
|
|
|
IP
|
[NCBI]
|
2.77358e-05
|
|
|
ADM
|
[NCBI]
|
2.59278e-05
|
|
|
BWS
|
[NCBI]
|
1.5701e-05
|
|
|
TS
|
[NCBI]
|
9.04446e-06
|
|
|
EPO
|
[NCBI]
|
3.14225e-06
|
|
|
PCNA
|
[NCBI]
|
2.26502e-06
|
|
|
VEGF
|
[NCBI]
|
1.31812e-06
|
|