|
OMIM |
Link |
Information gain |
01 |
|
pseudohermaphroditism, female, with skeletal anomalies
|
[NCBI]
|
0.00148718
|
|
|
rosselli-gulienetti syndrome
|
[NCBI]
|
0.00148718
|
|
|
VDEGS
|
[NCBI]
|
0.000983418
|
|
|
genitopatellar syndrome
|
[NCBI]
|
0.000983418
|
|
|
popliteal pterygium syndrome, lethal type
|
[NCBI]
|
0.000927015
|
|
|
hemifacial microsomia with radial defects
|
[NCBI]
|
0.000927015
|
|
|
digeorge syndrome/velocardiofacial syndrome spectrum of malformation 2
|
[NCBI]
|
0.000785125
|
|
|
robinow syndrome, autosomal dominant
|
[NCBI]
|
0.000638468
|
|
|
hypertelorism with esophageal abnormality and hypospadias
|
[NCBI]
|
0.000465939
|
|
|
agonadism with multiple internal malformations
|
[NCBI]
|
0.000352465
|
|
|
rokitansky-kuster-hauser syndrome
|
[NCBI]
|
0.000264939
|
|
|
PPS
|
[NCBI]
|
0.000219831
|
|
|
aphalangy with hemivertebrae
|
[NCBI]
|
0.00020291
|
|
|
pelviscapular dysplasia
|
[NCBI]
|
0.00020291
|
|
|
hypomelia with mullerian duct anomalies
|
[NCBI]
|
0.00020291
|
|
|
short stature, auditory canal atresia, mandibular hypoplasia, skeletal abnormalities
|
[NCBI]
|
0.000163655
|
|
|
gonadal agenesis
|
[NCBI]
|
0.000163655
|
|
|
SERKAL
|
[NCBI]
|
0.000163655
|
|
|
corpus callosum, agenesis of, with abnormal genitalia
|
[NCBI]
|
0.000163655
|
|
|
gorlin-chaudhry-moss syndrome
|
[NCBI]
|
0.000139246
|
|
|
caudal duplication anomaly
|
[NCBI]
|
0.000139246
|
|
|
intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies
|
[NCBI]
|
0.000139246
|
|
|
pelvis-shoulder dysplasia
|
[NCBI]
|
0.000139246
|
|
|
LISX2
|
[NCBI]
|
0.000132109
|
|
|
acrorenal-mandibular syndrome
|
[NCBI]
|
0.000132109
|
|
|
por deficiency
|
[NCBI]
|
0.000126425
|
|
|
renal cysts and diabetes syndrome
|
[NCBI]
|
0.000117663
|
|
|
ablepharon-macrostomia syndrome
|
[NCBI]
|
0.000117663
|
|
|
multiple pterygium syndrome, escobar variant
|
[NCBI]
|
0.000111001
|
|
|
hand-foot-uterus syndrome
|
[NCBI]
|
0.000108185
|
|
|
denys-drash syndrome
|
[NCBI]
|
0.000108185
|
|
|
AR
|
[NCBI]
|
0.000106223
|
|
|
seckel syndrome 1
|
[NCBI]
|
0.000105627
|
|
|
NETH
|
[NCBI]
|
9.91217e-05
|
|
|
pitt syndrome
|
[NCBI]
|
9.91217e-05
|
|
|
PPSH
|
[NCBI]
|
9.91217e-05
|
|
|
septooptic dysplasia
|
[NCBI]
|
9.55029e-05
|
|
|
ABS
|
[NCBI]
|
9.38571e-05
|
|
|
robinow syndrome, autosomal recessive
|
[NCBI]
|
8.94383e-05
|
|
|
fraser syndrome
|
[NCBI]
|
8.56332e-05
|
|
|
charge syndrome
|
[NCBI]
|
8.44741e-05
|
|
|
LSA
|
[NCBI]
|
7.58042e-05
|
|
|
AMH
|
[NCBI]
|
7.33851e-05
|
|
|
ANXA5
|
[NCBI]
|
6.73352e-05
|
|
|
BBS
|
[NCBI]
|
5.19852e-05
|
|
|
PJS
|
[NCBI]
|
5.13334e-05
|
|
|
NTN4
|
[NCBI]
|
4.53323e-05
|
|
|
AIS
|
[NCBI]
|
4.29694e-05
|
|
|
SLOS
|
[NCBI]
|
4.22955e-05
|
|
|
ARID5B
|
[NCBI]
|
4.15673e-05
|
|
|
leucine-rich repeat-containing g protein-coupled receptor 7
|
[NCBI]
|
4.15673e-05
|
|
|
GATA5
|
[NCBI]
|
4.15673e-05
|
|
|
MKKS
|
[NCBI]
|
3.91235e-05
|
|
|
CXCL14
|
[NCBI]
|
3.91235e-05
|
|
|
PXE
|
[NCBI]
|
3.75106e-05
|
|
|
RLN1
|
[NCBI]
|
3.73072e-05
|
|
|
NPR2
|
[NCBI]
|
3.73072e-05
|
|
|
LGR8
|
[NCBI]
|
3.58604e-05
|
|
|
MCP
|
[NCBI]
|
3.46946e-05
|
|
|
AXIN1
|
[NCBI]
|
3.46578e-05
|
|
|
POR
|
[NCBI]
|
3.46578e-05
|
|
|
PODXL
|
[NCBI]
|
3.36287e-05
|
|
|
DEFB1
|
[NCBI]
|
3.27295e-05
|
|
|
HOXA13
|
[NCBI]
|
3.27295e-05
|
|
|
WNT4
|
[NCBI]
|
3.27295e-05
|
|
|
HOXA10
|
[NCBI]
|
3.19309e-05
|
|
|
EMX2
|
[NCBI]
|
3.12129e-05
|
|
|
SPAM1
|
[NCBI]
|
2.94118e-05
|
|
|
NPY
|
[NCBI]
|
2.81844e-05
|
|
|
BWS
|
[NCBI]
|
2.79225e-05
|
|
|
FGF9
|
[NCBI]
|
2.75555e-05
|
|
|
contractural arachnodactyly, congenital
|
[NCBI]
|
2.67826e-05
|
|
|
temporal arteritis
|
[NCBI]
|
2.66988e-05
|
|
|
ARX
|
[NCBI]
|
2.60859e-05
|
|
|
HSPB1
|
[NCBI]
|
2.5155e-05
|
|
|
ALDH1A2
|
[NCBI]
|
2.4079e-05
|
|
|
ALDH1A1
|
[NCBI]
|
2.4079e-05
|
|
|
ESR2
|
[NCBI]
|
2.3368e-05
|
|
|
CF
|
[NCBI]
|
2.24202e-05
|
|
|
WT1
|
[NCBI]
|
2.09227e-05
|
|
|
INSL3
|
[NCBI]
|
2.06127e-05
|
|
|
NR5A1
|
[NCBI]
|
1.8999e-05
|
|
|
ESR1
|
[NCBI]
|
1.85359e-05
|
|
|
adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency
|
[NCBI]
|
1.85359e-05
|
|
|
SOCS3
|
[NCBI]
|
1.81024e-05
|
|
|
ARNT
|
[NCBI]
|
1.79982e-05
|
|
|
BSG
|
[NCBI]
|
1.71266e-05
|
|
|
FGFR2
|
[NCBI]
|
1.53096e-05
|
|
|
PIGR
|
[NCBI]
|
1.52409e-05
|
|
|
AHR
|
[NCBI]
|
1.27857e-05
|
|
|
GNRH1
|
[NCBI]
|
1.26815e-05
|
|
|
PWS
|
[NCBI]
|
1.22934e-05
|
|
|
TNF
|
[NCBI]
|
1.20898e-05
|
|
|
ACE
|
[NCBI]
|
1.04372e-05
|
|
|
PGR
|
[NCBI]
|
1.04056e-05
|
|
|
AKR1B1
|
[NCBI]
|
9.39392e-06
|
|
|
EGF
|
[NCBI]
|
7.38247e-06
|
|
|
PRL
|
[NCBI]
|
5.98457e-06
|
|
|
EGFR
|
[NCBI]
|
5.69497e-06
|
|
|
KLK3
|
[NCBI]
|
5.69188e-06
|
|
|
FGF7
|
[NCBI]
|
5.13914e-06
|
|
|
PYY
|
[NCBI]
|
4.80941e-06
|
|
|
TYMS
|
[NCBI]
|
4.68443e-06
|
|
|
PTHLH
|
[NCBI]
|
4.20164e-06
|
|
|
ADCYAP1
|
[NCBI]
|
3.35995e-06
|
|
|
CNTF
|
[NCBI]
|
2.97315e-06
|
|
|
EPO
|
[NCBI]
|
2.33765e-06
|
|
|
VEGF
|
[NCBI]
|
1.59759e-06
|
|
|
PCNA
|
[NCBI]
|
1.52689e-06
|
|
|
VIP
|
[NCBI]
|
7.05865e-07
|
|
|
CRH
|
[NCBI]
|
4.55596e-07
|
|
|
TH
|
[NCBI]
|
8.43464e-08
|
|
|
CEACAM5
|
[NCBI]
|
6.54079e-08
|
|