|
OMIM |
Link |
Information gain |
01 |
|
amyotrophy, monomelic
|
[NCBI]
|
0.00551317
|
|
|
robinow syndrome, autosomal dominant
|
[NCBI]
|
0.00258797
|
|
|
brachial palsy, familial congenital
|
[NCBI]
|
0.0023142
|
|
|
HOS
|
[NCBI]
|
0.0019838
|
|
|
FSHMD1A
|
[NCBI]
|
0.00117125
|
|
|
IS1
|
[NCBI]
|
0.000864693
|
|
|
polydactyly, preaxial iii
|
[NCBI]
|
0.000844389
|
|
|
pterygium, antecubital
|
[NCBI]
|
0.000844389
|
|
|
comedones, familial dyskeratotic
|
[NCBI]
|
0.000728301
|
|
|
ADFN
|
[NCBI]
|
0.00059798
|
|
|
schimmelpenning-feuerstein-mims syndrome
|
[NCBI]
|
0.000554105
|
|
|
spondyloenchondrodysplasia
|
[NCBI]
|
0.000517837
|
|
|
myopathy with deficiency of succinate dehydrogenase and aconitase
|
[NCBI]
|
0.000517837
|
|
|
skin creases, multiple benign ring-shaped, of limbs
|
[NCBI]
|
0.000486975
|
|
|
acheiropody
|
[NCBI]
|
0.000467758
|
|
|
POADS
|
[NCBI]
|
0.000460156
|
|
|
ACG1A
|
[NCBI]
|
0.0004153
|
|
|
MLRD
|
[NCBI]
|
0.000408139
|
|
|
short rib-polydactyly syndrome, type ii
|
[NCBI]
|
0.000348039
|
|
|
tetramelic deficiencies, ectodermal dysplasia, deformed ears, and other abnormalities
|
[NCBI]
|
0.000335346
|
|
|
HMN5
|
[NCBI]
|
0.000312817
|
|
|
brachial amelia, forebrain defects, and facial clefts
|
[NCBI]
|
0.000281319
|
|
|
HNA
|
[NCBI]
|
0.000265079
|
|
|
SRS
|
[NCBI]
|
0.000263208
|
|
|
MBS
|
[NCBI]
|
0.000259833
|
|
|
humerospinal dysostosis
|
[NCBI]
|
0.000256942
|
|
|
BGS
|
[NCBI]
|
0.000245086
|
|
|
EEC1
|
[NCBI]
|
0.000221308
|
|
|
thrombocytopenia-absent radius syndrome
|
[NCBI]
|
0.000221308
|
|
|
poland syndrome
|
[NCBI]
|
0.000201979
|
|
|
SLE
|
[NCBI]
|
0.000194521
|
|
|
ulna and fibula, absence of, with severe limb deficiency
|
[NCBI]
|
0.000188258
|
|
|
thumb, hypoplastic, with choroid coloboma, poorly developed antihelix, and deafness
|
[NCBI]
|
0.00016757
|
|
|
hypomelia with mullerian duct anomalies
|
[NCBI]
|
0.00016757
|
|
|
futcher line
|
[NCBI]
|
0.00016757
|
|
|
cancer, familial, with in vitro radioresistance
|
[NCBI]
|
0.00016757
|
|
|
radius, aplasia of, with cleft lip/palate
|
[NCBI]
|
0.00016757
|
|
|
bowing of long bones, asymmetric and symmetric
|
[NCBI]
|
0.00016757
|
|
|
arm folding preference
|
[NCBI]
|
0.00016757
|
|
|
EKD1
|
[NCBI]
|
0.000160133
|
|
|
AFD1
|
[NCBI]
|
0.000155492
|
|
|
UMS
|
[NCBI]
|
0.000152501
|
|
|
RBS
|
[NCBI]
|
0.000137394
|
|
|
TBX3
|
[NCBI]
|
0.000134888
|
|
|
TBX5
|
[NCBI]
|
0.000128416
|
|
|
ulnar ray dysgenesis with postaxial polydactyly and renal cystic dysplasia
|
[NCBI]
|
0.000128369
|
|
|
radial-renal syndrome
|
[NCBI]
|
0.000128369
|
|
|
FPLD3
|
[NCBI]
|
0.000128369
|
|
|
spondylometaepiphyseal dysplasia, short limb-hand type
|
[NCBI]
|
0.000128369
|
|
|
mental retardation syndrome, mietens-weber type
|
[NCBI]
|
0.000128369
|
|
|
LSA
|
[NCBI]
|
0.000122262
|
|
|
ivic syndrome
|
[NCBI]
|
0.00011362
|
|
|
BDD
|
[NCBI]
|
0.00011362
|
|
|
AMC
|
[NCBI]
|
0.000111889
|
|
|
RA
|
[NCBI]
|
0.000108451
|
|
|
EDMD
|
[NCBI]
|
0.000104423
|
|
|
WS3
|
[NCBI]
|
0.000104069
|
|
|
vacterl association with hydrocephalus
|
[NCBI]
|
0.000104069
|
|
|
erythrocyte lactate transporter defect
|
[NCBI]
|
0.000104069
|
|
|
TD1
|
[NCBI]
|
9.89544e-05
|
|
|
hunter-mcalpine craniosynostosis syndrome
|
[NCBI]
|
9.69865e-05
|
|
|
hand clasping pattern
|
[NCBI]
|
9.69865e-05
|
|
|
d-2-@hydroxyglutaric aciduria
|
[NCBI]
|
9.69865e-05
|
|
|
CF
|
[NCBI]
|
9.19499e-05
|
|
|
DSAP1
|
[NCBI]
|
9.13579e-05
|
|
|
BDE
|
[NCBI]
|
9.13579e-05
|
|
|
tibial hemimelia
|
[NCBI]
|
9.13579e-05
|
|
|
aglossia-adactylia
|
[NCBI]
|
9.13579e-05
|
|
|
ruvalcaba syndrome
|
[NCBI]
|
9.13579e-05
|
|
|
langer mesomelic dysplasia
|
[NCBI]
|
9.13579e-05
|
|
|
femur-fibula-ulna syndrome
|
[NCBI]
|
9.13579e-05
|
|
|
OSMED
|
[NCBI]
|
9.13579e-05
|
|
|
EV
|
[NCBI]
|
9.0427e-05
|
|
|
CDLS1
|
[NCBI]
|
8.62703e-05
|
|
|
GARS
|
[NCBI]
|
8.58917e-05
|
|
|
TD2
|
[NCBI]
|
8.2705e-05
|
|
|
GDD
|
[NCBI]
|
8.2705e-05
|
|
|
CMT2D
|
[NCBI]
|
8.2705e-05
|
|
|
KCS
|
[NCBI]
|
8.2705e-05
|
|
|
sc phocomelia syndrome
|
[NCBI]
|
8.2705e-05
|
|
|
HMN2A
|
[NCBI]
|
7.92305e-05
|
|
|
hemangioma-thrombocytopenia syndrome
|
[NCBI]
|
7.92305e-05
|
|
|
AMDM
|
[NCBI]
|
7.92305e-05
|
|
|
BDB1
|
[NCBI]
|
7.61523e-05
|
|
|
vater association
|
[NCBI]
|
7.61523e-05
|
|
|
brody myopathy
|
[NCBI]
|
7.61523e-05
|
|
|
LADD
|
[NCBI]
|
7.33906e-05
|
|
|
congenital hemidysplasia with ichthyosiform erythroderma and limb defects
|
[NCBI]
|
7.33906e-05
|
|
|
DDD
|
[NCBI]
|
7.08877e-05
|
|
|
FFS
|
[NCBI]
|
7.08877e-05
|
|
|
paget disease, juvenile
|
[NCBI]
|
7.08877e-05
|
|
|
temporal arteritis
|
[NCBI]
|
7.05191e-05
|
|
|
ASPS
|
[NCBI]
|
5.94453e-05
|
|
|
MNS
|
[NCBI]
|
5.65312e-05
|
|
|
SEDC
|
[NCBI]
|
5.65312e-05
|
|
|
EBR1
|
[NCBI]
|
5.27052e-05
|
|
|
HYPP
|
[NCBI]
|
5.15493e-05
|
|
|
RSMD1
|
[NCBI]
|
4.83739e-05
|
|
|
CMTC
|
[NCBI]
|
4.74007e-05
|
|
|
TMEM16E
|
[NCBI]
|
4.54305e-05
|
|
|
LWD
|
[NCBI]
|
4.4696e-05
|
|
|
TBS
|
[NCBI]
|
4.30491e-05
|
|
|
MB
|
[NCBI]
|
4.19502e-05
|
|
|
BRRS
|
[NCBI]
|
4.00658e-05
|
|
|
F12
|
[NCBI]
|
3.82263e-05
|
|
|
TRPS2
|
[NCBI]
|
3.80569e-05
|
|
|
CRMO
|
[NCBI]
|
3.80569e-05
|
|
|
CCM
|
[NCBI]
|
3.80569e-05
|
|
|
HSR
|
[NCBI]
|
3.75063e-05
|
|
|
HOXD13
|
[NCBI]
|
3.47068e-05
|
|
|
HNPP
|
[NCBI]
|
3.39689e-05
|
|
|
MKS1
|
[NCBI]
|
3.34424e-05
|
|
|
AVSD
|
[NCBI]
|
3.19364e-05
|
|
|
DYSF
|
[NCBI]
|
3.05933e-05
|
|
|
CES
|
[NCBI]
|
2.79774e-05
|
|
|
SLC16A1
|
[NCBI]
|
2.73124e-05
|
|
|
COL1A2
|
[NCBI]
|
2.68362e-05
|
|
|
BIRC1
|
[NCBI]
|
2.68362e-05
|
|
|
PAX3
|
[NCBI]
|
2.62473e-05
|
|
|
PPARG
|
[NCBI]
|
2.27562e-05
|
|
|
FGFR2
|
[NCBI]
|
2.14301e-05
|
|
|
SOD1
|
[NCBI]
|
1.62184e-05
|
|
|
SMS
|
[NCBI]
|
1.56564e-05
|
|
|
DFSP
|
[NCBI]
|
1.50763e-05
|
|
|
SLOS
|
[NCBI]
|
1.32985e-05
|
|
|
MG
|
[NCBI]
|
1.31886e-05
|
|
|
TTR
|
[NCBI]
|
1.22788e-05
|
|
|
MUC1
|
[NCBI]
|
1.11524e-05
|
|
|
DMD
|
[NCBI]
|
1.10148e-05
|
|
|
SHBG
|
[NCBI]
|
1.09761e-05
|
|
|
GTS
|
[NCBI]
|
1.07402e-05
|
|
|
PXE
|
[NCBI]
|
9.82797e-06
|
|
|
PCNA
|
[NCBI]
|
9.13056e-06
|
|
|
TNF
|
[NCBI]
|
8.7612e-06
|
|
|
CNTF
|
[NCBI]
|
7.84433e-06
|
|
|
GDNF
|
[NCBI]
|
6.23848e-06
|
|
|
PTH
|
[NCBI]
|
5.42367e-06
|
|
|
CVID
|
[NCBI]
|
4.09489e-06
|
|
|
NPPA
|
[NCBI]
|
3.82109e-06
|
|
|
CJD
|
[NCBI]
|
3.37431e-06
|
|
|
EPO
|
[NCBI]
|
1.82456e-06
|
|
|
PD
|
[NCBI]
|
7.65726e-07
|
|
|
VEGF
|
[NCBI]
|
4.63328e-07
|
|
|
NPY
|
[NCBI]
|
1.07933e-07
|
|
|
NGFB
|
[NCBI]
|
7.92952e-08
|
|