|
OMIM |
Link |
Information
gain |
01 |
|
|
pena-shokeir syndrome, type i
|
[NCBI]
|
0.00196034
|
|
|
|
pyloric atresia
|
[NCBI]
|
0.00145014
|
|
|
|
ACG1A
|
[NCBI]
|
0.00105589
|
|
|
|
NLS
|
[NCBI]
|
0.000876407
|
|
|
|
EPV
|
[NCBI]
|
0.000684933
|
|
|
|
dysgnathia complex
|
[NCBI]
|
0.000592366
|
|
|
|
auriculocondylar syndrome
|
[NCBI]
|
0.000592366
|
|
|
|
renal hamartomas, nephroblastomatosis, and fetal gigantism
|
[NCBI]
|
0.000476092
|
|
|
|
hydrolethalus syndrome 1
|
[NCBI]
|
0.00037287
|
|
|
|
FRNS
|
[NCBI]
|
0.00030372
|
|
|
|
ATD1
|
[NCBI]
|
0.000276364
|
|
|
|
DWS
|
[NCBI]
|
0.000257109
|
|
|
|
bartter syndrome, antenatal, type 2
|
[NCBI]
|
0.000246821
|
|
|
|
urogenital adysplasia, hereditary
|
[NCBI]
|
0.000243472
|
|
|
|
AFP
|
[NCBI]
|
0.000207299
|
|
|
|
chylothorax, congenital
|
[NCBI]
|
0.000202614
|
|
|
|
bartter syndrome, antenatal, type 1
|
[NCBI]
|
0.000185665
|
|
|
|
klippel-trenaunay-weber syndrome
|
[NCBI]
|
0.000171254
|
|
|
|
kniest-like dysplasia, lethal
|
[NCBI]
|
0.000123583
|
|
|
|
polyhydramnios, chronic idiopathic
|
[NCBI]
|
0.000123583
|
|
|
|
lethal short-limb skeletal dysplasia, al gazali type
|
[NCBI]
|
0.000123583
|
|
|
|
PMSE
|
[NCBI]
|
0.000123583
|
|
|
|
polysyndactyly with cardiac malformation
|
[NCBI]
|
0.000101119
|
|
|
|
encephalopathy, fatal infantile, with olivopontocerebellar hypoplasia
|
[NCBI]
|
0.000101119
|
|
|
|
TD1
|
[NCBI]
|
9.69357e-05
|
|
|
|
hydrops fetalis, idiopathic
|
[NCBI]
|
9.26442e-05
|
|
|
|
fetal akinesia syndrome, x-linked
|
[NCBI]
|
9.26442e-05
|
|
|
|
lissencephaly type iii and bone dysplasia
|
[NCBI]
|
9.26442e-05
|
|
|
|
yellow nail syndrome
|
[NCBI]
|
8.30556e-05
|
|
|
|
pancreas, annular
|
[NCBI]
|
7.70927e-05
|
|
|
|
schneckenbecken dysplasia
|
[NCBI]
|
7.70927e-05
|
|
|
|
ste20-related adaptor protein
|
[NCBI]
|
7.59186e-05
|
|
|
|
MAP3K3
|
[NCBI]
|
7.59186e-05
|
|
|
|
TD2
|
[NCBI]
|
7.47768e-05
|
|
|
|
hydrops-ectopic calcification-moth-eaten skeletal dysplasia
|
[NCBI]
|
7.0956e-05
|
|
|
|
pseudotrisomy 13 syndrome
|
[NCBI]
|
6.934e-05
|
|
|
|
AOI
|
[NCBI]
|
6.78721e-05
|
|
|
|
lymphedema, hereditary, i
|
[NCBI]
|
6.65275e-05
|
|
|
|
PRL
|
[NCBI]
|
6.61772e-05
|
|
|
|
ACG2
|
[NCBI]
|
6.52872e-05
|
|
|
|
multiple pterygium syndrome, escobar variant
|
[NCBI]
|
6.41361e-05
|
|
|
|
d-bifunctional protein deficiency
|
[NCBI]
|
6.41361e-05
|
|
|
|
marshall syndrome
|
[NCBI]
|
6.30624e-05
|
|
|
|
tight skin contracture syndrome, lethal
|
[NCBI]
|
6.20564e-05
|
|
|
|
abdominal muscles, absence of, with urinary tract abnormality and cryptorchidism
|
[NCBI]
|
6.0217e-05
|
|
|
|
diarrhea 1, secretory chloride, congenital
|
[NCBI]
|
5.93712e-05
|
|
|
|
RTD
|
[NCBI]
|
5.85682e-05
|
|
|
|
HSD17B4
|
[NCBI]
|
5.84987e-05
|
|
|
|
epidermolysis bullosa with pyloric atresia
|
[NCBI]
|
5.4453e-05
|
|
|
|
BWS
|
[NCBI]
|
5.35922e-05
|
|
|
|
pfeiffer syndrome
|
[NCBI]
|
5.11911e-05
|
|
|
|
PKS
|
[NCBI]
|
5.11911e-05
|
|
|
|
SGBS1
|
[NCBI]
|
5.07077e-05
|
|
|
|
walker-warburg syndrome
|
[NCBI]
|
4.76863e-05
|
|
|
|
AQP1
|
[NCBI]
|
4.45978e-05
|
|
|
|
costello syndrome
|
[NCBI]
|
4.32753e-05
|
|
|
|
AVSD
|
[NCBI]
|
3.61088e-05
|
|
|
|
NS1
|
[NCBI]
|
3.3891e-05
|
|
|
|
ACHE
|
[NCBI]
|
3.29584e-05
|
|
|
|
PKD1
|
[NCBI]
|
3.26803e-05
|
|
|
|
CDLS1
|
[NCBI]
|
3.11539e-05
|
|
|
|
FRAP1
|
[NCBI]
|
2.08918e-05
|
|
|
|
dystrophia myotonica 1
|
[NCBI]
|
2.07398e-05
|
|
|
|
NPPA
|
[NCBI]
|
1.34536e-05
|
|
|
|
PWS
|
[NCBI]
|
6.9657e-06
|
|
|
|
VEGF
|
[NCBI]
|
1.2688e-08
|
|
