|
OMIM |
Link |
Information gain |
01 |
|
schinzel-giedion midface-retraction syndrome
|
[NCBI]
|
0.00233202
|
|
|
robinow syndrome, autosomal dominant
|
[NCBI]
|
0.00228747
|
|
|
MEHMO
|
[NCBI]
|
0.00206964
|
|
|
AIS
|
[NCBI]
|
0.00101361
|
|
|
PPS
|
[NCBI]
|
0.000748676
|
|
|
OFD4
|
[NCBI]
|
0.000697622
|
|
|
skin creases, multiple benign ring-shaped, of limbs
|
[NCBI]
|
0.000666024
|
|
|
SLOS
|
[NCBI]
|
0.000652607
|
|
|
ABS
|
[NCBI]
|
0.00061831
|
|
|
PCA
|
[NCBI]
|
0.000572277
|
|
|
SRS
|
[NCBI]
|
0.000572149
|
|
|
charge syndrome
|
[NCBI]
|
0.000565482
|
|
|
varadi-papp syndrome
|
[NCBI]
|
0.00055412
|
|
|
short rib-polydactyly syndrome, type ii
|
[NCBI]
|
0.000521929
|
|
|
LISX2
|
[NCBI]
|
0.000455101
|
|
|
proteus syndrome
|
[NCBI]
|
0.000447588
|
|
|
hypertelorism with esophageal abnormality and hypospadias
|
[NCBI]
|
0.000327139
|
|
|
por deficiency
|
[NCBI]
|
0.000258512
|
|
|
renal cysts and diabetes syndrome
|
[NCBI]
|
0.000239344
|
|
|
leopard syndrome 1
|
[NCBI]
|
0.000219164
|
|
|
denys-drash syndrome
|
[NCBI]
|
0.000219164
|
|
|
AR
|
[NCBI]
|
0.000185427
|
|
|
nasal bones, absence of
|
[NCBI]
|
0.000183092
|
|
|
blepharophimosis with facial and genital anomalies and mental retardation
|
[NCBI]
|
0.000183092
|
|
|
syndactyly with renal and anogenital malformations
|
[NCBI]
|
0.000183092
|
|
|
robinow syndrome, autosomal recessive
|
[NCBI]
|
0.00018025
|
|
|
campomelic dysplasia
|
[NCBI]
|
0.000144645
|
|
|
meacham syndrome
|
[NCBI]
|
0.000143859
|
|
|
renal dysplasia-limb defects syndrome
|
[NCBI]
|
0.000143859
|
|
|
gonadal agenesis
|
[NCBI]
|
0.000143859
|
|
|
AMH
|
[NCBI]
|
0.000138486
|
|
|
POR
|
[NCBI]
|
0.000137086
|
|
|
carpenter syndrome
|
[NCBI]
|
0.000129078
|
|
|
pseudohermaphroditism, incomplete male, type i
|
[NCBI]
|
0.000129078
|
|
|
mullerian aplasia
|
[NCBI]
|
0.000129078
|
|
|
charge-like syndrome, x-linked
|
[NCBI]
|
0.000129078
|
|
|
preaxial deficiency, postaxial polydactyly, and hypospadias
|
[NCBI]
|
0.000129078
|
|
|
anal atresia, hypospadias, and penoscrotal inversion
|
[NCBI]
|
0.000119495
|
|
|
caudal duplication anomaly
|
[NCBI]
|
0.000119495
|
|
|
adrenal hyperplasia, congenital, due to steroid 11-beta-hydroxylase deficiency
|
[NCBI]
|
0.00011238
|
|
|
BBS
|
[NCBI]
|
0.000104282
|
|
|
WARBM
|
[NCBI]
|
0.000102019
|
|
|
hermaphroditism, true
|
[NCBI]
|
9.80012e-05
|
|
|
hand-foot-uterus syndrome
|
[NCBI]
|
8.85898e-05
|
|
|
pseudotrisomy 13 syndrome
|
[NCBI]
|
8.85898e-05
|
|
|
cri-du-chat syndrome
|
[NCBI]
|
8.37348e-05
|
|
|
PPSH
|
[NCBI]
|
7.96157e-05
|
|
|
HNF1B
|
[NCBI]
|
7.18487e-05
|
|
|
UMS
|
[NCBI]
|
7.14393e-05
|
|
|
fraser syndrome
|
[NCBI]
|
6.63279e-05
|
|
|
faciogenital dysplasia
|
[NCBI]
|
6.10818e-05
|
|
|
odorant-binding protein 2b
|
[NCBI]
|
5.70672e-05
|
|
|
VWS
|
[NCBI]
|
5.03756e-05
|
|
|
HGPS
|
[NCBI]
|
4.85751e-05
|
|
|
lunapark
|
[NCBI]
|
4.70861e-05
|
|
|
SRY
|
[NCBI]
|
4.70793e-05
|
|
|
CD
|
[NCBI]
|
4.6898e-05
|
|
|
SHH
|
[NCBI]
|
4.62505e-05
|
|
|
FREM2
|
[NCBI]
|
4.33204e-05
|
|
|
BRE
|
[NCBI]
|
4.33204e-05
|
|
|
DMRT2
|
[NCBI]
|
4.33204e-05
|
|
|
PROKR2
|
[NCBI]
|
4.08759e-05
|
|
|
CBX2
|
[NCBI]
|
3.90588e-05
|
|
|
odorant-binding protein
|
[NCBI]
|
3.76113e-05
|
|
|
RAB3GAP1
|
[NCBI]
|
3.76113e-05
|
|
|
DACH1
|
[NCBI]
|
3.76113e-05
|
|
|
DMRT1
|
[NCBI]
|
3.6408e-05
|
|
|
IRF6
|
[NCBI]
|
3.6408e-05
|
|
|
HOXD3
|
[NCBI]
|
3.53782e-05
|
|
|
WT1
|
[NCBI]
|
3.48952e-05
|
|
|
WNT7A
|
[NCBI]
|
3.44782e-05
|
|
|
HOXA13
|
[NCBI]
|
3.44782e-05
|
|
|
CYP11B1
|
[NCBI]
|
3.29602e-05
|
|
|
FGD1
|
[NCBI]
|
3.29602e-05
|
|
|
TBX3
|
[NCBI]
|
3.17089e-05
|
|
|
MODY
|
[NCBI]
|
3.10744e-05
|
|
|
ROR2
|
[NCBI]
|
3.06447e-05
|
|
|
KL
|
[NCBI]
|
2.89e-05
|
|
|
ARX
|
[NCBI]
|
2.78253e-05
|
|
|
PAX2
|
[NCBI]
|
2.58133e-05
|
|
|
PITX2
|
[NCBI]
|
2.533e-05
|
|
|
FGF10
|
[NCBI]
|
2.38601e-05
|
|
|
LHCGR
|
[NCBI]
|
2.29716e-05
|
|
|
INSL3
|
[NCBI]
|
2.23341e-05
|
|
|
CF
|
[NCBI]
|
2.09998e-05
|
|
|
RET
|
[NCBI]
|
2.02459e-05
|
|
|
adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency
|
[NCBI]
|
2.02459e-05
|
|
|
CPE
|
[NCBI]
|
1.76524e-05
|
|
|
FGFR2
|
[NCBI]
|
1.69929e-05
|
|
|
PTEN
|
[NCBI]
|
1.69235e-05
|
|
|
FGFR1
|
[NCBI]
|
1.62662e-05
|
|
|
BMP4
|
[NCBI]
|
1.5842e-05
|
|
|
AHR
|
[NCBI]
|
1.57486e-05
|
|
|
SHBG
|
[NCBI]
|
6.97352e-06
|
|
|
GNRH1
|
[NCBI]
|
3.82132e-06
|
|
|
EGF
|
[NCBI]
|
3.46181e-06
|
|
|
PCNA
|
[NCBI]
|
3.15631e-06
|
|
|
PWS
|
[NCBI]
|
2.00789e-06
|
|
|
FA
|
[NCBI]
|
1.92087e-06
|
|
|
CFTR
|
[NCBI]
|
1.01237e-06
|
|
|
NPY
|
[NCBI]
|
8.71705e-07
|
|
|
TH
|
[NCBI]
|
4.81949e-07
|
|
|
PRL
|
[NCBI]
|
4.56307e-07
|
|
|
HGF
|
[NCBI]
|
1.38218e-07
|
|
|
CRH
|
[NCBI]
|
3.15247e-08
|
|
|
BDNF
|
[NCBI]
|
2.2581e-09
|
|