|
OMIM |
Link |
Information gain |
01 |
|
MCPHA
|
[NCBI]
|
0.000177719
|
|
|
mitochondrial dna depletion syndrome, myopathic form
|
[NCBI]
|
0.000127243
|
|
|
OPTB3
|
[NCBI]
|
0.000121336
|
|
|
uridine 5-prime monophosphate hydrolase deficiency, hemolytic anemia due to
|
[NCBI]
|
0.000118873
|
|
|
severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-negative, nk cell-negative, due to adenosine deaminase deficiency
|
[NCBI]
|
8.42972e-05
|
|
|
ADA
|
[NCBI]
|
7.80341e-05
|
|
|
DMD
|
[NCBI]
|
7.41307e-05
|
|
|
POLH
|
[NCBI]
|
6.21049e-05
|
|
|
FA
|
[NCBI]
|
4.6356e-05
|
|
|
TYMS
|
[NCBI]
|
4.60315e-05
|
|
|
NP
|
[NCBI]
|
4.56956e-05
|
|
|
DHFR
|
[NCBI]
|
4.14003e-05
|
|
|
SUCLA2
|
[NCBI]
|
3.65316e-05
|
|
|
RRM2B
|
[NCBI]
|
3.65316e-05
|
|
|
SLC25A19
|
[NCBI]
|
3.33607e-05
|
|
|
POLI
|
[NCBI]
|
3.33607e-05
|
|
|
DCK
|
[NCBI]
|
3.24836e-05
|
|
|
DDX9
|
[NCBI]
|
3.13875e-05
|
|
|
NT5C
|
[NCBI]
|
2.99504e-05
|
|
|
XRCC2
|
[NCBI]
|
2.7887e-05
|
|
|
CSH1
|
[NCBI]
|
2.60888e-05
|
|
|
CA2
|
[NCBI]
|
2.4747e-05
|
|
|
C1NH
|
[NCBI]
|
2.31246e-05
|
|
|
TLR7
|
[NCBI]
|
2.31246e-05
|
|
|
fructose intolerance, hereditary
|
[NCBI]
|
2.12344e-05
|
|
|
DNTT
|
[NCBI]
|
1.89021e-05
|
|
|
UBTF
|
[NCBI]
|
1.83797e-05
|
|
|
FPGS
|
[NCBI]
|
1.61585e-05
|
|
|
RHO
|
[NCBI]
|
1.50389e-05
|
|
|
IFNA1
|
[NCBI]
|
1.47845e-05
|
|
|
hemophilia a
|
[NCBI]
|
1.40282e-05
|
|
|
FGFR3
|
[NCBI]
|
1.18354e-05
|
|
|
APRT
|
[NCBI]
|
1.13304e-05
|
|
|
ABCC1
|
[NCBI]
|
8.90226e-06
|
|
|
TF
|
[NCBI]
|
5.57232e-06
|
|
|
PCNA
|
[NCBI]
|
5.35376e-06
|
|
|
TH
|
[NCBI]
|
4.14466e-07
|
|
|
NGFB
|
[NCBI]
|
3.06316e-09
|
|