|
OMIM |
Link |
Information gain |
01 |
|
BWCNS
|
[NCBI]
|
0.00190762
|
|
|
progeroid syndrome, neonatal
|
[NCBI]
|
0.000644945
|
|
|
marshall-smith syndrome
|
[NCBI]
|
0.000516894
|
|
|
apnea, obstructive sleep
|
[NCBI]
|
0.000210327
|
|
|
SDS
|
[NCBI]
|
0.000202323
|
|
|
cardiofaciocutaneous syndrome
|
[NCBI]
|
0.000176584
|
|
|
mevalonic aciduria
|
[NCBI]
|
0.000171302
|
|
|
HRD
|
[NCBI]
|
0.000148725
|
|
|
JBS
|
[NCBI]
|
0.000121833
|
|
|
hypotonia, congenital nystagmus, ataxia, and abnormal auditory brainstem responses
|
[NCBI]
|
0.000116461
|
|
|
fallot complex with severe mental and growth retardation
|
[NCBI]
|
0.000116461
|
|
|
transcobalamin ii deficiency
|
[NCBI]
|
0.000107333
|
|
|
CDG1A
|
[NCBI]
|
9.82735e-05
|
|
|
costello syndrome
|
[NCBI]
|
9.51206e-05
|
|
|
edinburgh malformation syndrome
|
[NCBI]
|
9.40003e-05
|
|
|
majeed syndrome
|
[NCBI]
|
8.00342e-05
|
|
|
hawkinsinuria
|
[NCBI]
|
7.59505e-05
|
|
|
PHGDH
|
[NCBI]
|
7.34201e-05
|
|
|
CDLS1
|
[NCBI]
|
7.0482e-05
|
|
|
enterokinase deficiency
|
[NCBI]
|
6.99964e-05
|
|
|
homocystinuria-megaloblastic anemia due to defect in cobalamin metabolism, cble complementation type
|
[NCBI]
|
6.99964e-05
|
|
|
MCCC1
|
[NCBI]
|
6.82202e-05
|
|
|
PRSS7
|
[NCBI]
|
6.82202e-05
|
|
|
HEY2
|
[NCBI]
|
6.48439e-05
|
|
|
AHCY
|
[NCBI]
|
6.23336e-05
|
|
|
PCK2
|
[NCBI]
|
6.23336e-05
|
|
|
hypoparathyroidism, sensorineural deafness, and renal disease
|
[NCBI]
|
6.22612e-05
|
|
|
complement component 5 deficiency
|
[NCBI]
|
6.22612e-05
|
|
|
corticosterone methyloxidase type ii deficiency
|
[NCBI]
|
6.07977e-05
|
|
|
NTF3
|
[NCBI]
|
6.03335e-05
|
|
|
3-@methylcrotonyl-coa carboxylase 1 deficiency
|
[NCBI]
|
5.94574e-05
|
|
|
HPD
|
[NCBI]
|
5.86705e-05
|
|
|
HHS
|
[NCBI]
|
5.82214e-05
|
|
|
LPIN2
|
[NCBI]
|
5.7247e-05
|
|
|
COFS1
|
[NCBI]
|
5.60054e-05
|
|
|
neuropathy, congenital hypomyelinating
|
[NCBI]
|
5.50038e-05
|
|
|
VIL2
|
[NCBI]
|
5.48974e-05
|
|
|
BFLS
|
[NCBI]
|
5.23317e-05
|
|
|
SURF1
|
[NCBI]
|
5.1408e-05
|
|
|
LAMA2
|
[NCBI]
|
5.1408e-05
|
|
|
SLOS
|
[NCBI]
|
5.0984e-05
|
|
|
LTC4S
|
[NCBI]
|
5.06988e-05
|
|
|
CSID
|
[NCBI]
|
5.00482e-05
|
|
|
MDC1A
|
[NCBI]
|
5.00482e-05
|
|
|
RIPK1
|
[NCBI]
|
4.94169e-05
|
|
|
acyl-coa dehydrogenase, medium-chain, deficiency of
|
[NCBI]
|
4.93553e-05
|
|
|
MRXHF1
|
[NCBI]
|
4.80555e-05
|
|
|
MVK
|
[NCBI]
|
4.72646e-05
|
|
|
hyperglycerolemia
|
[NCBI]
|
4.68558e-05
|
|
|
GALC
|
[NCBI]
|
4.59113e-05
|
|
|
glycogen storage disease iv
|
[NCBI]
|
4.5742e-05
|
|
|
glycogen storage disease ib
|
[NCBI]
|
4.5742e-05
|
|
|
megaloblastic anemia 1
|
[NCBI]
|
4.42085e-05
|
|
|
mitochondrial complex iv deficiency
|
[NCBI]
|
4.28138e-05
|
|
|
charge syndrome
|
[NCBI]
|
4.19497e-05
|
|
|
ATRX
|
[NCBI]
|
4.07727e-05
|
|
|
BTHS
|
[NCBI]
|
3.96169e-05
|
|
|
hypertrophic neuropathy of dejerine-sottas
|
[NCBI]
|
3.79141e-05
|
|
|
SRF
|
[NCBI]
|
3.45179e-05
|
|
|
CRMO
|
[NCBI]
|
3.34878e-05
|
|
|
ALGS1
|
[NCBI]
|
3.23386e-05
|
|
|
LS
|
[NCBI]
|
2.79852e-05
|
|
|
NS1
|
[NCBI]
|
2.71929e-05
|
|
|
MAS
|
[NCBI]
|
2.40407e-05
|
|
|
DBA
|
[NCBI]
|
2.3919e-05
|
|
|
krabbe disease
|
[NCBI]
|
2.37983e-05
|
|
|
KSS
|
[NCBI]
|
2.06141e-05
|
|
|
WBS
|
[NCBI]
|
1.69033e-05
|
|
|
ADA
|
[NCBI]
|
1.18926e-05
|
|
|
BWS
|
[NCBI]
|
1.08635e-05
|
|
|
BDNF
|
[NCBI]
|
9.00861e-06
|
|
|
NPY
|
[NCBI]
|
6.53554e-06
|
|
|
MDD
|
[NCBI]
|
4.61522e-06
|
|
|
NGFB
|
[NCBI]
|
3.81111e-06
|
|
|
CD
|
[NCBI]
|
2.95006e-06
|
|
|
PWS
|
[NCBI]
|
2.83345e-06
|
|
|
CF
|
[NCBI]
|
3.51808e-08
|
|