|
OMIM |
Link |
Information gain |
01 |
|
mannose 6-phosphate receptor recognition defect, lebanese type
|
[NCBI]
|
0.0020498
|
|
|
hydroxykynureninuria
|
[NCBI]
|
0.00182656
|
|
|
GPS
|
[NCBI]
|
0.00122186
|
|
|
mucopolysaccharidosis type iiia
|
[NCBI]
|
0.00114902
|
|
|
tyrosinemia, type i
|
[NCBI]
|
0.000984322
|
|
|
mucolipidosis ii
|
[NCBI]
|
0.000807682
|
|
|
AHCY
|
[NCBI]
|
0.000463088
|
|
|
SGSH
|
[NCBI]
|
0.000432926
|
|
|
neuraminidase deficiency
|
[NCBI]
|
0.0002663
|
|
|
PADI4
|
[NCBI]
|
0.000235992
|
|
|
severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-negative, nk cell-negative, due to adenosine deaminase deficiency
|
[NCBI]
|
0.000224529
|
|
|
RA
|
[NCBI]
|
0.000221638
|
|
|
mucolipidosis iii, complementation group c
|
[NCBI]
|
0.000188411
|
|
|
SLE
|
[NCBI]
|
0.000173427
|
|
|
mucolipidosis iiia
|
[NCBI]
|
0.000156998
|
|
|
niemann-pick disease, type a
|
[NCBI]
|
0.000146951
|
|
|
mucolipidosis iv
|
[NCBI]
|
0.000144759
|
|
|
niemann-pick disease, type b
|
[NCBI]
|
0.000142671
|
|
|
ADA
|
[NCBI]
|
0.000141084
|
|
|
sialuria, finnish type
|
[NCBI]
|
0.000136942
|
|
|
infantile sialic acid storage disorder
|
[NCBI]
|
0.000136942
|
|
|
RCC1
|
[NCBI]
|
0.000128796
|
|
|
MSD
|
[NCBI]
|
0.000118287
|
|
|
PADI2
|
[NCBI]
|
0.000117857
|
|
|
PADI3
|
[NCBI]
|
0.000117857
|
|
|
PADI1
|
[NCBI]
|
0.000117857
|
|
|
fucosidase regulator
|
[NCBI]
|
0.000116729
|
|
|
nephrosialidosis
|
[NCBI]
|
8.68512e-05
|
|
|
SI
|
[NCBI]
|
8.61284e-05
|
|
|
tyrosinemia, type iii
|
[NCBI]
|
7.98365e-05
|
|
|
FAAH
|
[NCBI]
|
6.84747e-05
|
|
|
DDAH2
|
[NCBI]
|
6.83191e-05
|
|
|
KYNU
|
[NCBI]
|
6.83191e-05
|
|
|
MBP
|
[NCBI]
|
6.23831e-05
|
|
|
mannosidosis, beta a, lysosomal
|
[NCBI]
|
6.21604e-05
|
|
|
BPHL
|
[NCBI]
|
6.05319e-05
|
|
|
DDAH1
|
[NCBI]
|
5.81041e-05
|
|
|
HINT1
|
[NCBI]
|
5.81041e-05
|
|
|
mucopolysaccharidosis type iiib
|
[NCBI]
|
5.62964e-05
|
|
|
NAGLU
|
[NCBI]
|
4.70451e-05
|
|
|
NEU1
|
[NCBI]
|
4.32414e-05
|
|
|
bullous erythroderma ichthyosiformis congenita of brocq
|
[NCBI]
|
3.9563e-05
|
|
|
PADI6
|
[NCBI]
|
3.92553e-05
|
|
|
VNN2
|
[NCBI]
|
3.92553e-05
|
|
|
ADPRH
|
[NCBI]
|
3.92553e-05
|
|
|
LY6G6D
|
[NCBI]
|
3.92553e-05
|
|
|
HINT2
|
[NCBI]
|
3.92553e-05
|
|
|
HINT3
|
[NCBI]
|
3.92553e-05
|
|
|
NOTUM
|
[NCBI]
|
3.92553e-05
|
|
|
FHIT
|
[NCBI]
|
3.89312e-05
|
|
|
PSORS1
|
[NCBI]
|
3.4738e-05
|
|
|
metachromatic leukodystrophy
|
[NCBI]
|
3.23996e-05
|
|
|
PDXP
|
[NCBI]
|
3.18353e-05
|
|
|
VNN3
|
[NCBI]
|
3.18353e-05
|
|
|
g6b protein
|
[NCBI]
|
3.18353e-05
|
|
|
USP39
|
[NCBI]
|
3.18353e-05
|
|
|
ENPEP
|
[NCBI]
|
3.04531e-05
|
|
|
NDOR1
|
[NCBI]
|
2.90369e-05
|
|
|
THH
|
[NCBI]
|
2.72208e-05
|
|
|
DCPS
|
[NCBI]
|
2.72208e-05
|
|
|
AHCYL1
|
[NCBI]
|
2.72208e-05
|
|
|
krabbe disease
|
[NCBI]
|
2.63211e-05
|
|
|
RNF139
|
[NCBI]
|
2.58712e-05
|
|
|
SART1
|
[NCBI]
|
2.58712e-05
|
|
|
MGAM
|
[NCBI]
|
2.58712e-05
|
|
|
MRC1
|
[NCBI]
|
2.58712e-05
|
|
|
ASS
|
[NCBI]
|
2.51992e-05
|
|
|
GUSB
|
[NCBI]
|
2.50149e-05
|
|
|
ZS
|
[NCBI]
|
2.44192e-05
|
|
|
VNN1
|
[NCBI]
|
2.39033e-05
|
|
|
HIST1H1C
|
[NCBI]
|
2.39033e-05
|
|
|
AADAT
|
[NCBI]
|
2.39033e-05
|
|
|
TNF
|
[NCBI]
|
2.37311e-05
|
|
|
fabry disease
|
[NCBI]
|
2.34491e-05
|
|
|
PCMT1
|
[NCBI]
|
2.31392e-05
|
|
|
ADORA1
|
[NCBI]
|
2.24716e-05
|
|
|
SLC29A1
|
[NCBI]
|
2.18789e-05
|
|
|
VEGF
|
[NCBI]
|
2.16186e-05
|
|
|
PLA2G4A
|
[NCBI]
|
2.0862e-05
|
|
|
PMD
|
[NCBI]
|
2.06864e-05
|
|
|
farber lipogranulomatosis
|
[NCBI]
|
2.00099e-05
|
|
|
MEST
|
[NCBI]
|
2.00099e-05
|
|
|
BTD
|
[NCBI]
|
1.92768e-05
|
|
|
PEG3
|
[NCBI]
|
1.89454e-05
|
|
|
LRAT
|
[NCBI]
|
1.89454e-05
|
|
|
CCL18
|
[NCBI]
|
1.83396e-05
|
|
|
CHS
|
[NCBI]
|
1.7681e-05
|
|
|
CES1
|
[NCBI]
|
1.57039e-05
|
|
|
AD
|
[NCBI]
|
1.43576e-05
|
|
|
wolman disease
|
[NCBI]
|
1.35015e-05
|
|
|
BCHE
|
[NCBI]
|
1.34129e-05
|
|
|
neuraminidase deficiency with beta-galactosidase deficiency
|
[NCBI]
|
1.31772e-05
|
|
|
GALT
|
[NCBI]
|
1.26794e-05
|
|
|
ALAD
|
[NCBI]
|
1.25855e-05
|
|
|
PGM1
|
[NCBI]
|
1.25855e-05
|
|
|
PSAP
|
[NCBI]
|
1.24029e-05
|
|
|
ACHE
|
[NCBI]
|
1.11967e-05
|
|
|
IDUA
|
[NCBI]
|
1.05572e-05
|
|
|
MTR
|
[NCBI]
|
1.02596e-05
|
|
|
GPT
|
[NCBI]
|
1.01456e-05
|
|
|
PRL
|
[NCBI]
|
9.89988e-06
|
|
|
NGFB
|
[NCBI]
|
9.44069e-06
|
|
|
ESD
|
[NCBI]
|
8.54028e-06
|
|
|
LPO
|
[NCBI]
|
7.57602e-06
|
|
|
DCK
|
[NCBI]
|
5.65315e-06
|
|
|
CEACAM5
|
[NCBI]
|
4.41331e-06
|
|
|
SDC2
|
[NCBI]
|
4.38421e-06
|
|
|
AVP
|
[NCBI]
|
4.01934e-06
|
|
|
TH
|
[NCBI]
|
3.66357e-06
|
|
|
PCNA
|
[NCBI]
|
3.05666e-06
|
|
|
VIP
|
[NCBI]
|
2.44042e-06
|
|
|
EGF
|
[NCBI]
|
2.40585e-06
|
|
|
IL2
|
[NCBI]
|
1.62216e-06
|
|
|
MPO
|
[NCBI]
|
1.597e-06
|
|
|
APOE
|
[NCBI]
|
8.56234e-07
|
|
|
TTR
|
[NCBI]
|
8.34094e-07
|
|
|
LPL
|
[NCBI]
|
5.6811e-07
|
|
|
CD
|
[NCBI]
|
3.842e-07
|
|
|
CCK
|
[NCBI]
|
2.60081e-07
|
|
|
TYMS
|
[NCBI]
|
1.91967e-07
|
|
|
CF
|
[NCBI]
|
1.56188e-07
|
|
|
GFAP
|
[NCBI]
|
1.2998e-07
|
|
|
DHFR
|
[NCBI]
|
7.34733e-09
|
|