|
OMIM |
Link |
Information gain |
01 |
|
tricarboxylic acid cycle, defect of
|
[NCBI]
|
0.00296772
|
|
|
saccharopinuria
|
[NCBI]
|
0.00202368
|
|
|
TYMS
|
[NCBI]
|
0.000522159
|
|
|
dicarboxylicamino aciduria
|
[NCBI]
|
0.000481251
|
|
|
glutamate monosodium sensitivity
|
[NCBI]
|
0.000404607
|
|
|
chondrodysplasia punctata, autosomal dominant
|
[NCBI]
|
0.000334526
|
|
|
HBB
|
[NCBI]
|
0.000282019
|
|
|
FPGS
|
[NCBI]
|
0.000269871
|
|
|
CHAT
|
[NCBI]
|
0.000232037
|
|
|
gamma-glutamylcysteine synthetase deficiency, hemolytic anemia due to
|
[NCBI]
|
0.000225088
|
|
|
HBA1
|
[NCBI]
|
0.000218443
|
|
|
formiminotransferase deficiency
|
[NCBI]
|
0.000201749
|
|
|
hyperprolinemia, type ii
|
[NCBI]
|
0.000201749
|
|
|
n-acetylglutamate synthase deficiency
|
[NCBI]
|
0.000201749
|
|
|
EPD
|
[NCBI]
|
0.000186455
|
|
|
acylase, cobalt-activated
|
[NCBI]
|
0.000160008
|
|
|
NAGS
|
[NCBI]
|
0.000155842
|
|
|
PROA
|
[NCBI]
|
0.000128437
|
|
|
RA
|
[NCBI]
|
0.000126375
|
|
|
DHFR
|
[NCBI]
|
0.000118387
|
|
|
menkes disease
|
[NCBI]
|
0.00010997
|
|
|
SNDI
|
[NCBI]
|
0.00010881
|
|
|
ear wax, wet/dry
|
[NCBI]
|
0.00010881
|
|
|
ALD
|
[NCBI]
|
0.000107866
|
|
|
beta thalassemia, dominant inclusion body type
|
[NCBI]
|
0.000103073
|
|
|
HHF6
|
[NCBI]
|
8.86263e-05
|
|
|
SLC1A1
|
[NCBI]
|
8.48063e-05
|
|
|
thyrotropin deficiency, isolated
|
[NCBI]
|
7.99113e-05
|
|
|
vitamin k-dependent clotting factors, combined deficiency of, 1
|
[NCBI]
|
7.99113e-05
|
|
|
GRM5
|
[NCBI]
|
7.78548e-05
|
|
|
leber optic atrophy
|
[NCBI]
|
7.69802e-05
|
|
|
diabetes mellitus, insulin-resistant, with acanthosis nigricans
|
[NCBI]
|
7.50677e-05
|
|
|
coumarin resistance
|
[NCBI]
|
7.50677e-05
|
|
|
glutathione synthetase deficiency
|
[NCBI]
|
7.50677e-05
|
|
|
RCDP1
|
[NCBI]
|
7.10952e-05
|
|
|
hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
|
[NCBI]
|
6.99154e-05
|
|
|
hyperlipoproteinemia, type i
|
[NCBI]
|
6.99154e-05
|
|
|
carbamoyl phosphate synthetase i deficiency, hyperammonemia due to
|
[NCBI]
|
6.87957e-05
|
|
|
succinic semialdehyde dehydrogenase deficiency
|
[NCBI]
|
6.87957e-05
|
|
|
argininosuccinic aciduria
|
[NCBI]
|
6.77303e-05
|
|
|
methylmalonic aciduria and homocystinuria, cblc type
|
[NCBI]
|
6.67143e-05
|
|
|
ehlers-danlos syndrome, type iv, autosomal dominant
|
[NCBI]
|
6.57434e-05
|
|
|
histidinemia
|
[NCBI]
|
6.14478e-05
|
|
|
acyl-coa dehydrogenase, medium-chain, deficiency of
|
[NCBI]
|
5.92274e-05
|
|
|
HBD
|
[NCBI]
|
5.90431e-05
|
|
|
MADD
|
[NCBI]
|
5.65837e-05
|
|
|
SLC1A4
|
[NCBI]
|
5.59259e-05
|
|
|
pyruvate decarboxylase deficiency
|
[NCBI]
|
5.21136e-05
|
|
|
SLC46A1
|
[NCBI]
|
5.03364e-05
|
|
|
SLC1A2
|
[NCBI]
|
4.78075e-05
|
|
|
COL3A1
|
[NCBI]
|
4.54077e-05
|
|
|
ALS1
|
[NCBI]
|
4.52987e-05
|
|
|
GRIA4
|
[NCBI]
|
4.52802e-05
|
|
|
VEGF
|
[NCBI]
|
4.52585e-05
|
|
|
GRIA3
|
[NCBI]
|
4.1878e-05
|
|
|
ornithine transcarbamylase deficiency, hyperammonemia due to
|
[NCBI]
|
3.93671e-05
|
|
|
GRIN2A
|
[NCBI]
|
3.85783e-05
|
|
|
DCK
|
[NCBI]
|
3.54409e-05
|
|
|
TNF
|
[NCBI]
|
3.17793e-05
|
|
|
GRIA2
|
[NCBI]
|
2.82474e-05
|
|
|
GRIA1
|
[NCBI]
|
2.70219e-05
|
|
|
CRC
|
[NCBI]
|
2.65368e-05
|
|
|
factor x deficiency
|
[NCBI]
|
2.61386e-05
|
|
|
STX1B
|
[NCBI]
|
2.51609e-05
|
|
|
GRID1
|
[NCBI]
|
2.51609e-05
|
|
|
CD300C
|
[NCBI]
|
2.51609e-05
|
|
|
ALB
|
[NCBI]
|
2.47699e-05
|
|
|
HBG2
|
[NCBI]
|
2.33864e-05
|
|
|
GRINA
|
[NCBI]
|
2.33486e-05
|
|
|
phenylketonuria
|
[NCBI]
|
2.31736e-05
|
|
|
TAS1R2
|
[NCBI]
|
2.20028e-05
|
|
|
PYCS
|
[NCBI]
|
2.20028e-05
|
|
|
TAS1R1
|
[NCBI]
|
2.09317e-05
|
|
|
HBG1
|
[NCBI]
|
2.03807e-05
|
|
|
NPY
|
[NCBI]
|
2.02438e-05
|
|
|
HLA-DPB1
|
[NCBI]
|
2.00423e-05
|
|
|
SLC1A6
|
[NCBI]
|
1.92819e-05
|
|
|
ALDH4A1
|
[NCBI]
|
1.92819e-05
|
|
|
thyrotropin-releasing hormone deficiency
|
[NCBI]
|
1.92819e-05
|
|
|
GLUD2
|
[NCBI]
|
1.92819e-05
|
|
|
GRIK1
|
[NCBI]
|
1.86181e-05
|
|
|
GPSM1
|
[NCBI]
|
1.80291e-05
|
|
|
PTH
|
[NCBI]
|
1.75068e-05
|
|
|
TAS1R3
|
[NCBI]
|
1.74999e-05
|
|
|
GSS
|
[NCBI]
|
1.70197e-05
|
|
|
CNGB1
|
[NCBI]
|
1.70197e-05
|
|
|
CEACAM5
|
[NCBI]
|
1.69834e-05
|
|
|
EIF2S1
|
[NCBI]
|
1.65802e-05
|
|
|
GLUL
|
[NCBI]
|
1.61751e-05
|
|
|
PTPN6
|
[NCBI]
|
1.61751e-05
|
|
|
plasmin inhibitor deficiency
|
[NCBI]
|
1.57995e-05
|
|
|
GRM1
|
[NCBI]
|
1.57995e-05
|
|
|
TBXA2R
|
[NCBI]
|
1.57995e-05
|
|
|
INSR
|
[NCBI]
|
1.56914e-05
|
|
|
BDNF
|
[NCBI]
|
1.55051e-05
|
|
|
SLC1A3
|
[NCBI]
|
1.54495e-05
|
|
|
ACY1
|
[NCBI]
|
1.54495e-05
|
|
|
PLAU
|
[NCBI]
|
1.54495e-05
|
|
|
AGXT
|
[NCBI]
|
1.51218e-05
|
|
|
HBA2
|
[NCBI]
|
1.50797e-05
|
|
|
DLG4
|
[NCBI]
|
1.48139e-05
|
|
|
PTPN22
|
[NCBI]
|
1.42487e-05
|
|
|
CCK
|
[NCBI]
|
1.40062e-05
|
|
|
TS
|
[NCBI]
|
1.39532e-05
|
|
|
MAP4
|
[NCBI]
|
1.3504e-05
|
|
|
GLUD1
|
[NCBI]
|
1.32784e-05
|
|
|
ACADM
|
[NCBI]
|
1.30452e-05
|
|
|
KRT14
|
[NCBI]
|
1.24655e-05
|
|
|
C1NH
|
[NCBI]
|
1.19327e-05
|
|
|
COL4A5
|
[NCBI]
|
1.19327e-05
|
|
|
GFAP
|
[NCBI]
|
1.17044e-05
|
|
|
GRIN1
|
[NCBI]
|
1.16071e-05
|
|
|
ALDH2
|
[NCBI]
|
1.10144e-05
|
|
|
PHEX
|
[NCBI]
|
1.08769e-05
|
|
|
ASPA
|
[NCBI]
|
1.03631e-05
|
|
|
TPI1
|
[NCBI]
|
1.03631e-05
|
|
|
PEMT
|
[NCBI]
|
1.00111e-05
|
|
|
RELN
|
[NCBI]
|
9.68341e-06
|
|
|
CTSC
|
[NCBI]
|
9.47703e-06
|
|
|
MYH7
|
[NCBI]
|
9.2794e-06
|
|
|
MTAP
|
[NCBI]
|
9.08986e-06
|
|
|
MPO
|
[NCBI]
|
9.02833e-06
|
|
|
F2
|
[NCBI]
|
8.3224e-06
|
|
|
porphyria cutanea tarda
|
[NCBI]
|
8.3224e-06
|
|
|
EGF
|
[NCBI]
|
8.275e-06
|
|
|
PI
|
[NCBI]
|
8.05142e-06
|
|
|
ENPEP
|
[NCBI]
|
7.94648e-06
|
|
|
ABCD1
|
[NCBI]
|
7.94648e-06
|
|
|
AFP
|
[NCBI]
|
7.81408e-06
|
|
|
ARSA
|
[NCBI]
|
7.5339e-06
|
|
|
protein c deficiency, congenital thrombotic disease due to
|
[NCBI]
|
7.5339e-06
|
|
|
PENK
|
[NCBI]
|
7.40462e-06
|
|
|
SLC4A1
|
[NCBI]
|
7.3414e-06
|
|
|
COL2A1
|
[NCBI]
|
6.64802e-06
|
|
|
PCNA
|
[NCBI]
|
6.61545e-06
|
|
|
HLA-A
|
[NCBI]
|
6.49123e-06
|
|
|
ACHE
|
[NCBI]
|
5.98933e-06
|
|
|
LPL
|
[NCBI]
|
5.43797e-06
|
|
|
IDE
|
[NCBI]
|
5.26437e-06
|
|
|
PC
|
[NCBI]
|
5.15332e-06
|
|
|
HD
|
[NCBI]
|
4.99751e-06
|
|
|
CAT
|
[NCBI]
|
4.99662e-06
|
|
|
antithrombin iii deficiency
|
[NCBI]
|
4.97531e-06
|
|
|
TLR9
|
[NCBI]
|
4.94072e-06
|
|
|
NGFB
|
[NCBI]
|
4.80443e-06
|
|
|
GAL
|
[NCBI]
|
4.78308e-06
|
|
|
RHO
|
[NCBI]
|
4.54956e-06
|
|
|
GHRH
|
[NCBI]
|
4.2855e-06
|
|
|
MB
|
[NCBI]
|
3.99834e-06
|
|
|
HEMB
|
[NCBI]
|
3.32351e-06
|
|
|
BGLAP
|
[NCBI]
|
3.32351e-06
|
|
|
TFPI
|
[NCBI]
|
2.48767e-06
|
|
|
MBP
|
[NCBI]
|
1.95079e-06
|
|
|
APOE
|
[NCBI]
|
1.94462e-06
|
|
|
VIP
|
[NCBI]
|
1.88252e-06
|
|
|
SOD1
|
[NCBI]
|
1.78043e-06
|
|
|
MAP2
|
[NCBI]
|
1.59602e-06
|
|
|
AD
|
[NCBI]
|
1.52841e-06
|
|
|
NR1I2
|
[NCBI]
|
1.52504e-06
|
|
|
NPPA
|
[NCBI]
|
1.26689e-06
|
|
|
POMC
|
[NCBI]
|
1.25163e-06
|
|
|
ADA
|
[NCBI]
|
1.12423e-06
|
|
|
PMCH
|
[NCBI]
|
1.03839e-06
|
|
|
SLC6A4
|
[NCBI]
|
9.53784e-07
|
|
|
AVP
|
[NCBI]
|
7.77532e-07
|
|
|
CFTR
|
[NCBI]
|
5.3123e-07
|
|
|
CRH
|
[NCBI]
|
5.2918e-07
|
|
|
GNRH1
|
[NCBI]
|
5.25116e-07
|
|
|
F3
|
[NCBI]
|
2.22957e-07
|
|
|
GIP
|
[NCBI]
|
2.2148e-07
|
|
|
GAPDH
|
[NCBI]
|
1.19725e-07
|
|
|
TH
|
[NCBI]
|
1.11566e-07
|
|
|
IL2
|
[NCBI]
|
7.17519e-08
|
|
|
CNTF
|
[NCBI]
|
3.93108e-08
|
|
|
TTR
|
[NCBI]
|
3.38019e-08
|
|
|
PRL
|
[NCBI]
|
1.21378e-08
|
|
|
ADCYAP1
|
[NCBI]
|
5.78404e-10
|
|