|
OMIM |
Link |
Information gain |
01 |
|
chromosome 10q deletion syndrome
|
[NCBI]
|
0.00366554
|
|
|
melanoma, uveal, susceptibility to, 2
|
[NCBI]
|
0.001914092
|
|
|
DIH2
|
[NCBI]
|
0.001732058
|
|
|
monosomy 7 of bone marrow
|
[NCBI]
|
0.001595472
|
|
|
hypertrichotic osteochondrodysplasia
|
[NCBI]
|
0.001407811
|
|
|
CGF1
|
[NCBI]
|
0.001405096
|
|
|
digeorge syndrome/velocardiofacial syndrome spectrum of malformation 2
|
[NCBI]
|
0.001324985
|
|
|
scleroderma, familial progressive
|
[NCBI]
|
0.000981438
|
|
|
hashimoto thyroiditis
|
[NCBI]
|
0.000951464
|
|
|
JMML
|
[NCBI]
|
0.000940167
|
|
|
kabuki syndrome
|
[NCBI]
|
0.000770488
|
|
|
DGS
|
[NCBI]
|
0.000609706
|
|
|
monosomy 1p36 syndrome
|
[NCBI]
|
0.000591708
|
|
|
ISS
|
[NCBI]
|
0.000313811
|
|
|
alpha-thalassemia/mental retardation syndrome, deletion-type
|
[NCBI]
|
0.000300824
|
|
|
CFTD
|
[NCBI]
|
0.00029874
|
|
|
WHS
|
[NCBI]
|
0.000298367
|
|
|
SHOX
|
[NCBI]
|
0.0002476238
|
|
|
MCOPS7
|
[NCBI]
|
0.000247492
|
|
|
meningioma, familial
|
[NCBI]
|
0.000231748
|
|
|
DMRT1
|
[NCBI]
|
0.0002214259
|
|
|
SKI
|
[NCBI]
|
0.0001999724
|
|
|
gombo syndrome
|
[NCBI]
|
0.0001936146
|
|
|
RDT
|
[NCBI]
|
0.000190282
|
|
|
pterygia, mental retardation, and distinctive craniofacial features
|
[NCBI]
|
0.0001790653
|
|
|
platelet disorder, familial, with associated myeloid malignancy
|
[NCBI]
|
0.0001722751
|
|
|
myelocerebellar disorder
|
[NCBI]
|
0.0001722751
|
|
|
monosomy 9p syndrome
|
[NCBI]
|
0.000171315
|
|
|
CRS2
|
[NCBI]
|
0.0001672988
|
|
|
salivary gland adenoma, pleomorphic
|
[NCBI]
|
0.0001672307
|
|
|
WT5
|
[NCBI]
|
0.0001539224
|
|
|
DCC
|
[NCBI]
|
0.0001444576
|
|
|
hypoparathyroidism, sensorineural deafness, and renal disease
|
[NCBI]
|
0.0001386249
|
|
|
chromosome 22q13.3 deletion syndrome
|
[NCBI]
|
0.0001317121
|
|
|
FBXL16
|
[NCBI]
|
0.0001293599
|
|
|
pituitary dwarfism due to isolated growth hormone deficiency, autosomal dominant
|
[NCBI]
|
0.0001291348
|
|
|
CRS1
|
[NCBI]
|
0.000127432
|
|
|
HPE3
|
[NCBI]
|
0.0001250483
|
|
|
WBS
|
[NCBI]
|
0.0001237022
|
|
|
CDC2L2
|
[NCBI]
|
0.000121527
|
|
|
parathyroid hormone-responsive b1 gene
|
[NCBI]
|
0.0001124689
|
|
|
DMRT2
|
[NCBI]
|
0.0001124689
|
|
|
INSL4
|
[NCBI]
|
0.0001051559
|
|
|
HCCS
|
[NCBI]
|
0.000101873
|
|
|
HLA-F
|
[NCBI]
|
0.0001015535
|
|
|
PRDM16
|
[NCBI]
|
9.78608e-05
|
|
|
CDC2L1
|
[NCBI]
|
9.65808e-05
|
|
|
BWS
|
[NCBI]
|
9.11283e-05
|
|
|
RPS4X
|
[NCBI]
|
8.97473e-05
|
|
|
CF
|
[NCBI]
|
8.79586e-05
|
|
|
PFKL
|
[NCBI]
|
8.72337e-05
|
|
|
melanoma, uveal
|
[NCBI]
|
8.70554e-05
|
|
|
NF1
|
[NCBI]
|
8.52222e-05
|
|
|
LWD
|
[NCBI]
|
8.41664e-05
|
|
|
NQO1
|
[NCBI]
|
8.38869e-05
|
|
|
SRA2
|
[NCBI]
|
8.28932e-05
|
|
|
down syndrome
|
[NCBI]
|
8.22813e-05
|
|
|
PIK3CG
|
[NCBI]
|
7.99709e-05
|
|
|
RCC1
|
[NCBI]
|
7.75795e-05
|
|
|
CMT1A
|
[NCBI]
|
7.12003e-05
|
|
|
SDS
|
[NCBI]
|
6.52931e-05
|
|
|
PIGA
|
[NCBI]
|
6.52121e-05
|
|
|
HLA-A
|
[NCBI]
|
6.13311e-05
|
|
|
factor x deficiency
|
[NCBI]
|
6.12438e-05
|
|
|
CSF3
|
[NCBI]
|
5.97975e-05
|
|
|
GUSB
|
[NCBI]
|
4.92587e-05
|
|
|
PKD1
|
[NCBI]
|
4.61789e-05
|
|
|
CHS
|
[NCBI]
|
4.02969e-05
|
|
|
MAG
|
[NCBI]
|
3.41184e-05
|
|
|
GIST
|
[NCBI]
|
2.98247e-05
|
|
|
EPO
|
[NCBI]
|
2.36065e-05
|
|
|
GTS
|
[NCBI]
|
1.938178e-05
|
|
|
FA
|
[NCBI]
|
8.42592e-06
|
|
|
MBP
|
[NCBI]
|
7.59494e-06
|
|
|
MPO
|
[NCBI]
|
5.15222e-06
|
|
|
CRC
|
[NCBI]
|
4.01745e-06
|
|