|
OMIM |
Link |
Information gain |
01 |
|
TKCR
|
[NCBI]
|
0.0025497
|
|
|
robinow syndrome, autosomal dominant
|
[NCBI]
|
0.00160505
|
|
|
cryptorchidism, unilateral or bilateral
|
[NCBI]
|
0.00111273
|
|
|
INSL3
|
[NCBI]
|
0.00094141
|
|
|
AMH
|
[NCBI]
|
0.000756585
|
|
|
SCAR3
|
[NCBI]
|
0.000660154
|
|
|
acromial dimples
|
[NCBI]
|
0.000607072
|
|
|
adducted thumb-clubfoot syndrome
|
[NCBI]
|
0.000607072
|
|
|
abdominal muscles, absence of, with urinary tract abnormality and cryptorchidism
|
[NCBI]
|
0.000574566
|
|
|
PMDS
|
[NCBI]
|
0.000542759
|
|
|
hypoadrenocorticism, familial
|
[NCBI]
|
0.000510391
|
|
|
renal hamartomas, nephroblastomatosis, and fetal gigantism
|
[NCBI]
|
0.000451673
|
|
|
ear, patella, short stature syndrome
|
[NCBI]
|
0.000451673
|
|
|
short rib-polydactyly syndrome, type iii
|
[NCBI]
|
0.000436268
|
|
|
MCOPS1
|
[NCBI]
|
0.000436268
|
|
|
short rib-polydactyly syndrome, type ii
|
[NCBI]
|
0.00037672
|
|
|
SRS
|
[NCBI]
|
0.00035538
|
|
|
LGR8
|
[NCBI]
|
0.000345159
|
|
|
dandy-walker-like malformation with atrioventricular septal defect
|
[NCBI]
|
0.00034199
|
|
|
dubowitz syndrome
|
[NCBI]
|
0.000314024
|
|
|
intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies
|
[NCBI]
|
0.000295556
|
|
|
TRS
|
[NCBI]
|
0.000239241
|
|
|
pena-shokeir syndrome, type i
|
[NCBI]
|
0.000237878
|
|
|
craniosynostosis with fibular aplasia
|
[NCBI]
|
0.000221166
|
|
|
urogenital adysplasia, hereditary
|
[NCBI]
|
0.000220861
|
|
|
hypertelorism with esophageal abnormality and hypospadias
|
[NCBI]
|
0.000200305
|
|
|
kabuki syndrome
|
[NCBI]
|
0.000195005
|
|
|
MRXHF1
|
[NCBI]
|
0.000181669
|
|
|
WT1
|
[NCBI]
|
0.000173708
|
|
|
AR
|
[NCBI]
|
0.000141237
|
|
|
hypogonadotropic hypogonadism
|
[NCBI]
|
0.000123601
|
|
|
MCOPS3
|
[NCBI]
|
0.000121611
|
|
|
NS1
|
[NCBI]
|
0.00011622
|
|
|
arthrogryposis, distal, with peculiar facies and hydronephrosis
|
[NCBI]
|
0.0001105
|
|
|
emphysema, congenital, with deafness, penoscrotal web, and mental retardation
|
[NCBI]
|
0.0001105
|
|
|
acrorenal syndrome
|
[NCBI]
|
0.0001105
|
|
|
brain anomalies, retardation, ectodermal dysplasia, skeletal malformations, hirschsprung disease, ear/eye anomalies, cleft palate/cryptorchidism, and kidney dysplasia/hypoplasia
|
[NCBI]
|
0.0001105
|
|
|
otofacioosseous-gonadal syndrome
|
[NCBI]
|
0.0001105
|
|
|
KAL2
|
[NCBI]
|
0.000106032
|
|
|
faciogenital dysplasia
|
[NCBI]
|
0.00010146
|
|
|
AHC
|
[NCBI]
|
0.000100414
|
|
|
ichthyosis, x-linked
|
[NCBI]
|
9.46429e-05
|
|
|
SCS
|
[NCBI]
|
8.9285e-05
|
|
|
AIS
|
[NCBI]
|
8.82427e-05
|
|
|
mental and growth retardation with amblyopia
|
[NCBI]
|
8.80447e-05
|
|
|
mcdonough syndrome
|
[NCBI]
|
8.80447e-05
|
|
|
stratton-parker syndrome
|
[NCBI]
|
8.80447e-05
|
|
|
PWS
|
[NCBI]
|
8.65253e-05
|
|
|
SHBG
|
[NCBI]
|
8.61256e-05
|
|
|
myotubular myopathy with abnormal genital development
|
[NCBI]
|
7.95802e-05
|
|
|
ichthyosis and male hypogonadism
|
[NCBI]
|
7.95802e-05
|
|
|
GUD
|
[NCBI]
|
7.95802e-05
|
|
|
craniofacial dyssynostosis with short stature
|
[NCBI]
|
7.95802e-05
|
|
|
polydactyly, postaxial
|
[NCBI]
|
7.95802e-05
|
|
|
carnevale syndrome
|
[NCBI]
|
7.95802e-05
|
|
|
SLOS
|
[NCBI]
|
7.83854e-05
|
|
|
SPATS2
|
[NCBI]
|
7.41631e-05
|
|
|
spastic ataxia
|
[NCBI]
|
7.40895e-05
|
|
|
craniostenosis, sagittal, with congenital heart disease, mental deficiency, and mandibular ankylosis
|
[NCBI]
|
7.40895e-05
|
|
|
dyserythropoietic anemia with thrombocytopenia
|
[NCBI]
|
7.40895e-05
|
|
|
DAZ
|
[NCBI]
|
7.36188e-05
|
|
|
CF
|
[NCBI]
|
6.89576e-05
|
|
|
native american myopathy
|
[NCBI]
|
6.67648e-05
|
|
|
young-simpson syndrome
|
[NCBI]
|
6.40681e-05
|
|
|
martsolf syndrome
|
[NCBI]
|
5.97481e-05
|
|
|
ZFPM1
|
[NCBI]
|
5.51922e-05
|
|
|
FFS
|
[NCBI]
|
5.48967e-05
|
|
|
wagr syndrome
|
[NCBI]
|
5.48967e-05
|
|
|
GINGF
|
[NCBI]
|
5.35619e-05
|
|
|
CXORF6
|
[NCBI]
|
5.18201e-05
|
|
|
AMHR2
|
[NCBI]
|
5.18201e-05
|
|
|
nondisjunction
|
[NCBI]
|
5.01264e-05
|
|
|
denys-drash syndrome
|
[NCBI]
|
5.01264e-05
|
|
|
HOXA10
|
[NCBI]
|
4.9314e-05
|
|
|
CBAVD
|
[NCBI]
|
4.56813e-05
|
|
|
PPS
|
[NCBI]
|
4.28621e-05
|
|
|
FGD1
|
[NCBI]
|
4.18987e-05
|
|
|
MKKS
|
[NCBI]
|
3.94168e-05
|
|
|
GATA4
|
[NCBI]
|
3.8426e-05
|
|
|
EFE
|
[NCBI]
|
3.84225e-05
|
|
|
OCRL
|
[NCBI]
|
3.79489e-05
|
|
|
RBS
|
[NCBI]
|
3.6191e-05
|
|
|
cardiofaciocutaneous syndrome
|
[NCBI]
|
3.49964e-05
|
|
|
FDH
|
[NCBI]
|
3.35402e-05
|
|
|
GATA1
|
[NCBI]
|
3.33977e-05
|
|
|
ARX
|
[NCBI]
|
3.10817e-05
|
|
|
BWS
|
[NCBI]
|
3.03014e-05
|
|
|
CYP19A1
|
[NCBI]
|
2.84046e-05
|
|
|
ATRX
|
[NCBI]
|
2.78994e-05
|
|
|
KAL1
|
[NCBI]
|
2.55197e-05
|
|
|
WT1
|
[NCBI]
|
2.49631e-05
|
|
|
FGFR1
|
[NCBI]
|
2.04845e-05
|
|
|
ZS
|
[NCBI]
|
1.88538e-05
|
|
|
OSM
|
[NCBI]
|
1.4429e-05
|
|
|
EGF
|
[NCBI]
|
1.02767e-05
|
|
|
CAT
|
[NCBI]
|
8.73491e-06
|
|
|
GNRH1
|
[NCBI]
|
8.22321e-06
|
|
|
TF
|
[NCBI]
|
7.38516e-06
|
|
|
EGFR
|
[NCBI]
|
2.8462e-06
|
|
|
AFP
|
[NCBI]
|
1.37761e-06
|
|
|
PCNA
|
[NCBI]
|
1.0455e-06
|
|
|
PRL
|
[NCBI]
|
5.57073e-07
|
|
|
HGF
|
[NCBI]
|
7.36437e-08
|
|
|
AVP
|
[NCBI]
|
7.56111e-10
|
|