|
OMIM |
Link |
Information gain |
01 |
|
SRS
|
[NCBI]
|
0.00446225
|
|
|
BWCNS
|
[NCBI]
|
0.00279174
|
|
|
renal cell carcinoma, papillary, 3
|
[NCBI]
|
0.00239515
|
|
|
holoprosencephaly
|
[NCBI]
|
0.00238454
|
|
|
larsen-like syndrome
|
[NCBI]
|
0.001918729
|
|
|
CES
|
[NCBI]
|
0.001655733
|
|
|
PN
|
[NCBI]
|
0.00119182
|
|
|
urogenital adysplasia, hereditary
|
[NCBI]
|
0.001135251
|
|
|
pseudotrisomy 13 syndrome
|
[NCBI]
|
0.001093205
|
|
|
hemifacial microsomia with radial defects
|
[NCBI]
|
0.001052302
|
|
|
immunoglobulin m, level of
|
[NCBI]
|
0.00101462
|
|
|
pierre robin sequence with pectus excavatum and rib and scapular anomalies
|
[NCBI]
|
0.000983529
|
|
|
ASD1
|
[NCBI]
|
0.000926574
|
|
|
AFP
|
[NCBI]
|
0.000855156
|
|
|
CSA
|
[NCBI]
|
0.000847879
|
|
|
iminoglycinuria
|
[NCBI]
|
0.000841942
|
|
|
HFM
|
[NCBI]
|
0.000807878
|
|
|
BWS
|
[NCBI]
|
0.00080407
|
|
|
MVA
|
[NCBI]
|
0.000747084
|
|
|
WM1
|
[NCBI]
|
0.000715469
|
|
|
megacystis-microcolon-intestinal hypoperistalsis syndrome
|
[NCBI]
|
0.000695309
|
|
|
RA
|
[NCBI]
|
0.000611865
|
|
|
PWS
|
[NCBI]
|
0.000580366
|
|
|
diaphragmatic hernia, congenital
|
[NCBI]
|
0.00051759
|
|
|
JBTS1
|
[NCBI]
|
0.000517402
|
|
|
F7R
|
[NCBI]
|
0.000512174
|
|
|
thrombocytopenia-absent radius syndrome
|
[NCBI]
|
0.00049757
|
|
|
GSR
|
[NCBI]
|
0.00048877
|
|
|
emanuel syndrome
|
[NCBI]
|
0.000467073
|
|
|
AVSD
|
[NCBI]
|
0.000463847
|
|
|
PCS
|
[NCBI]
|
0.000453373
|
|
|
down syndrome
|
[NCBI]
|
0.000400607
|
|
|
nondisjunction
|
[NCBI]
|
0.000399631
|
|
|
pena-shokeir syndrome, type i
|
[NCBI]
|
0.000370281
|
|
|
SLE
|
[NCBI]
|
0.000367929
|
|
|
kabuki syndrome
|
[NCBI]
|
0.000335506
|
|
|
behcet syndrome
|
[NCBI]
|
0.000331082
|
|
|
hypertelorism with esophageal abnormality and hypospadias
|
[NCBI]
|
0.000313002
|
|
|
DGS
|
[NCBI]
|
0.000311811
|
|
|
HK1
|
[NCBI]
|
0.000310738
|
|
|
WHS
|
[NCBI]
|
0.000309374
|
|
|
PEPA
|
[NCBI]
|
0.0002671944
|
|
|
CF
|
[NCBI]
|
0.000250772
|
|
|
HPE2
|
[NCBI]
|
0.000248686
|
|
|
leiomyoma, hereditary multiple, of skin
|
[NCBI]
|
0.000244097
|
|
|
trisomy 18-like syndrome
|
[NCBI]
|
0.000224531
|
|
|
midline malformations, multiple, with limb abnormalities and hypopituitarism
|
[NCBI]
|
0.000224531
|
|
|
XRS
|
[NCBI]
|
0.000224531
|
|
|
ACEE
|
[NCBI]
|
0.000224531
|
|
|
interferon antiviral depressor
|
[NCBI]
|
0.000224531
|
|
|
JBS
|
[NCBI]
|
0.00021881
|
|
|
IFNAR1
|
[NCBI]
|
0.0002158872
|
|
|
puerto rican infant hypotonia syndrome
|
[NCBI]
|
0.0002020876
|
|
|
median-ulnar nerve communications
|
[NCBI]
|
0.0001968023
|
|
|
CDLS1
|
[NCBI]
|
0.000189876
|
|
|
SMS
|
[NCBI]
|
0.0001849347
|
|
|
PKS
|
[NCBI]
|
0.0001781084
|
|
|
renal, genital, and middle ear anomalies
|
[NCBI]
|
0.0001743589
|
|
|
CLL
|
[NCBI]
|
0.0001729489
|
|
|
ankyloblepharon filiforme adnatum and cleft palate
|
[NCBI]
|
0.000165906
|
|
|
HMI
|
[NCBI]
|
0.000162229
|
|
|
gombo syndrome
|
[NCBI]
|
0.0001604271
|
|
|
genitopalatocardiac syndrome
|
[NCBI]
|
0.0001554677
|
|
|
diaphragmatic hernia 3
|
[NCBI]
|
0.0001554677
|
|
|
factor vii deficiency
|
[NCBI]
|
0.0001524445
|
|
|
RTS
|
[NCBI]
|
0.0001507638
|
|
|
galactosemia
|
[NCBI]
|
0.0001482103
|
|
|
SIM2
|
[NCBI]
|
0.0001461059
|
|
|
pterygia, mental retardation, and distinctive craniofacial features
|
[NCBI]
|
0.0001459222
|
|
|
PFKL
|
[NCBI]
|
0.0001451882
|
|
|
ESD
|
[NCBI]
|
0.0001437704
|
|
|
cataract, microcephaly, failure to thrive, kyphoscoliosis syndrome
|
[NCBI]
|
0.0001400024
|
|
|
platelet disorder, familial, with associated myeloid malignancy
|
[NCBI]
|
0.0001391593
|
|
|
monosomy 9p syndrome
|
[NCBI]
|
0.0001382086
|
|
|
TK1
|
[NCBI]
|
0.0001357298
|
|
|
LDHB
|
[NCBI]
|
0.0001347848
|
|
|
CRS2
|
[NCBI]
|
0.0001342194
|
|
|
CMT1A
|
[NCBI]
|
0.0001277883
|
|
|
ACP1
|
[NCBI]
|
0.0001235367
|
|
|
WT5
|
[NCBI]
|
0.0001209231
|
|
|
BL
|
[NCBI]
|
0.0001206462
|
|
|
GPX1
|
[NCBI]
|
0.0001187942
|
|
|
EBVS1
|
[NCBI]
|
0.0001133356
|
|
|
omphalocele
|
[NCBI]
|
0.0001104293
|
|
|
c syndrome
|
[NCBI]
|
0.0001028455
|
|
|
PREB
|
[NCBI]
|
0.0001025848
|
|
|
IGHG1
|
[NCBI]
|
0.0001020472
|
|
|
GINGF
|
[NCBI]
|
0.0001010461
|
|
|
EWSR1
|
[NCBI]
|
0.000101021
|
|
|
SCZD1
|
[NCBI]
|
0.000100397
|
|
|
GUK1
|
[NCBI]
|
9.94758e-05
|
|
|
TMEM1
|
[NCBI]
|
9.94758e-05
|
|
|
GALT
|
[NCBI]
|
9.74573e-05
|
|
|
indifference to pain, congenital, autosomal recessive
|
[NCBI]
|
9.64215e-05
|
|
|
HMGN1
|
[NCBI]
|
9.5959e-05
|
|
|
NP
|
[NCBI]
|
9.5681e-05
|
|
|
HPE3
|
[NCBI]
|
9.24068e-05
|
|
|
HLA-A
|
[NCBI]
|
9.20583e-05
|
|
|
factor x deficiency
|
[NCBI]
|
9.1821e-05
|
|
|
MLL
|
[NCBI]
|
8.96192e-05
|
|
|
seckel syndrome 1
|
[NCBI]
|
8.81536e-05
|
|
|
parathyroid hormone-responsive b1 gene
|
[NCBI]
|
8.57063e-05
|
|
|
BCL2
|
[NCBI]
|
8.55731e-05
|
|
|
RB1
|
[NCBI]
|
8.13037e-05
|
|
|
AS
|
[NCBI]
|
8.00566e-05
|
|
|
PFKP
|
[NCBI]
|
7.91546e-05
|
|
|
ACLS
|
[NCBI]
|
7.88732e-05
|
|
|
TRPS1
|
[NCBI]
|
7.88471e-05
|
|
|
OFD1
|
[NCBI]
|
7.87766e-05
|
|
|
CRELD1
|
[NCBI]
|
7.84985e-05
|
|
|
MYC
|
[NCBI]
|
7.84171e-05
|
|
|
INSL4
|
[NCBI]
|
7.8413e-05
|
|
|
AK3
|
[NCBI]
|
7.8413e-05
|
|
|
PPA1
|
[NCBI]
|
7.58054e-05
|
|
|
ZNF331
|
[NCBI]
|
7.51319e-05
|
|
|
diastrophic dysplasia
|
[NCBI]
|
7.51302e-05
|
|
|
CPX
|
[NCBI]
|
7.4779e-05
|
|
|
FOXP1
|
[NCBI]
|
7.24388e-05
|
|
|
ERV1
|
[NCBI]
|
6.98562e-05
|
|
|
TNF
|
[NCBI]
|
6.95244e-05
|
|
|
MIRN15A
|
[NCBI]
|
6.89461e-05
|
|
|
ITPA
|
[NCBI]
|
6.55678e-05
|
|
|
MIRN16-1
|
[NCBI]
|
6.53653e-05
|
|
|
FDH
|
[NCBI]
|
6.50445e-05
|
|
|
PKM2
|
[NCBI]
|
6.30851e-05
|
|
|
ZFPM2
|
[NCBI]
|
6.30536e-05
|
|
|
MTRR
|
[NCBI]
|
6.22983e-05
|
|
|
CML
|
[NCBI]
|
6.09648e-05
|
|
|
homocystinuria due to deficiency of n(5,10)-methylenetetrahydrofolate reductase activity
|
[NCBI]
|
6.00767e-05
|
|
|
HMBS
|
[NCBI]
|
5.84432e-05
|
|
|
ETS2
|
[NCBI]
|
5.79081e-05
|
|
|
SLC1A3
|
[NCBI]
|
5.75152e-05
|
|
|
NQO1
|
[NCBI]
|
5.72338e-05
|
|
|
SRA2
|
[NCBI]
|
5.62493e-05
|
|
|
MOS
|
[NCBI]
|
5.54351e-05
|
|
|
CRC
|
[NCBI]
|
5.48225e-05
|
|
|
ADK
|
[NCBI]
|
5.47824e-05
|
|
|
LCK
|
[NCBI]
|
5.39753e-05
|
|
|
GAPDH
|
[NCBI]
|
5.17994e-05
|
|
|
MN
|
[NCBI]
|
5.09215e-05
|
|
|
sotos syndrome
|
[NCBI]
|
5.0726e-05
|
|
|
PDGFRA
|
[NCBI]
|
5.00802e-05
|
|
|
PMP22
|
[NCBI]
|
4.98018e-05
|
|
|
HNPP
|
[NCBI]
|
4.94463e-05
|
|
|
MFS
|
[NCBI]
|
4.85873e-05
|
|
|
ABO
|
[NCBI]
|
4.82536e-05
|
|
|
BPES
|
[NCBI]
|
4.67939e-05
|
|
|
BGN
|
[NCBI]
|
4.62966e-05
|
|
|
AMC
|
[NCBI]
|
4.57871e-05
|
|
|
DCN
|
[NCBI]
|
4.55548e-05
|
|
|
MKS1
|
[NCBI]
|
4.54703e-05
|
|
|
MET
|
[NCBI]
|
4.45566e-05
|
|
|
TPI1
|
[NCBI]
|
4.44224e-05
|
|
|
AK1
|
[NCBI]
|
4.40943e-05
|
|
|
COL6A1
|
[NCBI]
|
4.32324e-05
|
|
|
CBD
|
[NCBI]
|
4.19297e-05
|
|
|
FY
|
[NCBI]
|
4.18142e-05
|
|
|
SOD1
|
[NCBI]
|
3.96832e-05
|
|
|
BCL6
|
[NCBI]
|
3.92788e-05
|
|
|
ADHD
|
[NCBI]
|
3.89093e-05
|
|
|
MEN2A
|
[NCBI]
|
3.81334e-05
|
|
|
hypogonadotropic hypogonadism
|
[NCBI]
|
3.78658e-05
|
|
|
BLM
|
[NCBI]
|
3.64784e-05
|
|
|
DCC
|
[NCBI]
|
3.46199e-05
|
|
|
FH
|
[NCBI]
|
3.40303e-05
|
|
|
JMML
|
[NCBI]
|
3.34184e-05
|
|
|
GPT
|
[NCBI]
|
3.11e-05
|
|
|
IDUA
|
[NCBI]
|
2.76974e-05
|
|
|
ADA
|
[NCBI]
|
2.75235e-05
|
|
|
CHAT
|
[NCBI]
|
2.601531e-05
|
|
|
EGF
|
[NCBI]
|
2.59899e-05
|
|
|
COL1A2
|
[NCBI]
|
2.58792e-05
|
|
|
KLK3
|
[NCBI]
|
2.50708e-05
|
|
|
IP
|
[NCBI]
|
2.38168e-05
|
|
|
GUSB
|
[NCBI]
|
2.36683e-05
|
|
|
KRT20
|
[NCBI]
|
2.14856e-05
|
|
|
IFNA1
|
[NCBI]
|
2.040973e-05
|
|
|
G6PD
|
[NCBI]
|
2.031296e-05
|
|
|
EGFR
|
[NCBI]
|
2.001369e-05
|
|
|
RET
|
[NCBI]
|
1.975371e-05
|
|
|
DNMT1
|
[NCBI]
|
1.956778e-05
|
|
|
PRL
|
[NCBI]
|
1.648602e-05
|
|
|
APRT
|
[NCBI]
|
1.578349e-05
|
|
|
SLOS
|
[NCBI]
|
1.256387e-05
|
|
|
BCR
|
[NCBI]
|
1.171468e-05
|
|
|
AD
|
[NCBI]
|
1.154744e-05
|
|
|
INS
|
[NCBI]
|
1.098138e-05
|
|
|
NPY
|
[NCBI]
|
7.06013e-06
|
|
|
ACHE
|
[NCBI]
|
6.623092e-06
|
|
|
HP
|
[NCBI]
|
6.60504e-06
|
|
|
APOE
|
[NCBI]
|
5.050839e-06
|
|
|
CVID
|
[NCBI]
|
4.20102e-06
|
|
|
SHH
|
[NCBI]
|
4.026725e-06
|
|
|
TF
|
[NCBI]
|
3.690772e-06
|
|
|
BDNF
|
[NCBI]
|
2.029482e-06
|
|
|
TTR
|
[NCBI]
|
1.808134e-06
|
|
|
NGFB
|
[NCBI]
|
7.79583e-07
|
|
|
FA
|
[NCBI]
|
6.319316e-07
|
|
|
PCNA
|
[NCBI]
|
3.5451351776e-07
|
|