|
OMIM |
Link |
Information gain |
01 |
|
chiari malformation type i
|
[NCBI]
|
0.00125822
|
|
|
neural tube defects
|
[NCBI]
|
0.00103826
|
|
|
acromial dimples
|
[NCBI]
|
0.000813359
|
|
|
exstrophy of bladder
|
[NCBI]
|
0.000773718
|
|
|
syringomyelia, isolated
|
[NCBI]
|
0.000715905
|
|
|
PHP
|
[NCBI]
|
0.000715905
|
|
|
anencephaly
|
[NCBI]
|
0.000570168
|
|
|
oeis complex
|
[NCBI]
|
0.000305565
|
|
|
MTHFR
|
[NCBI]
|
0.000274989
|
|
|
neural tube defects, folate-sensitive
|
[NCBI]
|
0.000259939
|
|
|
PDGFRA
|
[NCBI]
|
0.000162331
|
|
|
AFP
|
[NCBI]
|
0.000136741
|
|
|
gluteal muscles, absence of
|
[NCBI]
|
0.00012988
|
|
|
lentiginosis, centrofacial neurodysraphic
|
[NCBI]
|
0.00012988
|
|
|
reese retinal dysplasia
|
[NCBI]
|
0.00012988
|
|
|
T
|
[NCBI]
|
0.00011613
|
|
|
FOLR1
|
[NCBI]
|
0.000110377
|
|
|
PAX1
|
[NCBI]
|
0.000110377
|
|
|
diastematomyelia
|
[NCBI]
|
0.000107412
|
|
|
BHMT
|
[NCBI]
|
0.000105928
|
|
|
pelvis-shoulder dysplasia
|
[NCBI]
|
8.60827e-05
|
|
|
neural tube defects, x-linked
|
[NCBI]
|
8.60827e-05
|
|
|
CYP26A1
|
[NCBI]
|
7.8776e-05
|
|
|
wildervanck syndrome
|
[NCBI]
|
7.41402e-05
|
|
|
hydrolethalus syndrome 1
|
[NCBI]
|
7.41402e-05
|
|
|
currarino syndrome
|
[NCBI]
|
7.15501e-05
|
|
|
sacral defect with anterior meningocele
|
[NCBI]
|
6.73629e-05
|
|
|
TRAF4
|
[NCBI]
|
5.98009e-05
|
|
|
MLP
|
[NCBI]
|
5.98009e-05
|
|
|
ABS
|
[NCBI]
|
5.89599e-05
|
|
|
fraser syndrome
|
[NCBI]
|
5.7907e-05
|
|
|
DHFR
|
[NCBI]
|
5.63645e-05
|
|
|
homocystinuria due to deficiency of n(5,10)-methylenetetrahydrofolate reductase activity
|
[NCBI]
|
5.5545e-05
|
|
|
HLXB9
|
[NCBI]
|
5.39185e-05
|
|
|
GRHL3
|
[NCBI]
|
4.8838e-05
|
|
|
MTRR
|
[NCBI]
|
4.8838e-05
|
|
|
SLC19A1
|
[NCBI]
|
4.8838e-05
|
|
|
MTHFD1
|
[NCBI]
|
4.8838e-05
|
|
|
ALDH1A2
|
[NCBI]
|
4.75957e-05
|
|
|
SOX3
|
[NCBI]
|
4.75957e-05
|
|
|
APAF1
|
[NCBI]
|
4.64925e-05
|
|
|
AMC
|
[NCBI]
|
4.55089e-05
|
|
|
ALGS1
|
[NCBI]
|
4.52793e-05
|
|
|
SHH
|
[NCBI]
|
3.76129e-05
|
|
|
PEMT
|
[NCBI]
|
3.75351e-05
|
|
|
NAT1
|
[NCBI]
|
3.4968e-05
|
|
|
ACHE
|
[NCBI]
|
3.077e-05
|
|
|
MTR
|
[NCBI]
|
2.76438e-05
|
|
|
FGFR1
|
[NCBI]
|
2.49168e-05
|
|
|
LEP
|
[NCBI]
|
2.09466e-05
|
|
|
FGFR2
|
[NCBI]
|
2.05879e-05
|
|
|
BRCA1
|
[NCBI]
|
1.67175e-05
|
|
|
phenylketonuria
|
[NCBI]
|
1.58161e-05
|
|
|
AVP
|
[NCBI]
|
9.34413e-06
|
|
|
TYMS
|
[NCBI]
|
5.07197e-06
|
|
|
VEGF
|
[NCBI]
|
1.3328e-06
|
|
|
GFAP
|
[NCBI]
|
2.5152e-07
|
|
|
EPO
|
[NCBI]
|
1.74974e-07
|
|