|
OMIM |
Link |
Information gain |
01 |
|
severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-negative, nk cell-negative, due to adenosine deaminase deficiency
|
[NCBI]
|
0.00174657
|
|
|
gtp cyclohydrolase i deficiency
|
[NCBI]
|
0.000572806
|
|
|
ADA
|
[NCBI]
|
0.000351617
|
|
|
neural tube defects, folate-sensitive
|
[NCBI]
|
0.000218032
|
|
|
MTHFD1
|
[NCBI]
|
0.000181209
|
|
|
ovarian teratoma
|
[NCBI]
|
0.00018
|
|
|
MTHFD2
|
[NCBI]
|
0.000122251
|
|
|
hyperlipoproteinemia, type ii
|
[NCBI]
|
9.34646e-05
|
|
|
MTHFD1L
|
[NCBI]
|
8.31644e-05
|
|
|
sandhoff disease
|
[NCBI]
|
7.15945e-05
|
|
|
homocystinuria due to deficiency of n(5,10)-methylenetetrahydrofolate reductase activity
|
[NCBI]
|
7.10848e-05
|
|
|
LNS
|
[NCBI]
|
6.65481e-05
|
|
|
PGD
|
[NCBI]
|
5.85884e-05
|
|
|
hypercholesterolemia, autosomal dominant
|
[NCBI]
|
5.27665e-05
|
|
|
NIT1
|
[NCBI]
|
4.66337e-05
|
|
|
VNN3
|
[NCBI]
|
3.9211e-05
|
|
|
HPRT1
|
[NCBI]
|
3.84137e-05
|
|
|
PEPB
|
[NCBI]
|
2.92335e-05
|
|
|
IDH1
|
[NCBI]
|
2.73541e-05
|
|
|
ACY1
|
[NCBI]
|
2.66157e-05
|
|
|
PGM3
|
[NCBI]
|
2.53895e-05
|
|
|
NRAS
|
[NCBI]
|
2.51226e-05
|
|
|
LDHB
|
[NCBI]
|
2.3365e-05
|
|
|
GCH1
|
[NCBI]
|
2.28316e-05
|
|
|
C3
|
[NCBI]
|
1.93619e-05
|
|
|
HLA-A
|
[NCBI]
|
1.71736e-05
|
|
|
DCK
|
[NCBI]
|
1.2438e-05
|
|
|
APRT
|
[NCBI]
|
1.12144e-05
|
|
|
TYMS
|
[NCBI]
|
4.54536e-06
|
|
|
DHFR
|
[NCBI]
|
3.58796e-06
|
|