|
OMIM |
Link |
Information gain |
01 |
|
TDD
|
[NCBI]
|
0.00277021
|
|
|
spondyloepiphyseal dysplasia tarda, toledo type
|
[NCBI]
|
0.00175075
|
|
|
argininosuccinic aciduria
|
[NCBI]
|
0.00108016
|
|
|
histidinemia
|
[NCBI]
|
0.000714777
|
|
|
GLO1
|
[NCBI]
|
0.000697301
|
|
|
MCOPS7
|
[NCBI]
|
0.000666371
|
|
|
IDDM
|
[NCBI]
|
0.000651891
|
|
|
ASL
|
[NCBI]
|
0.000213561
|
|
|
1-@aminocyclopropane-1-carboxylate synthase
|
[NCBI]
|
0.000183869
|
|
|
HCCS
|
[NCBI]
|
0.000173444
|
|
|
porphyria, acute intermittent
|
[NCBI]
|
0.000148953
|
|
|
AADAT
|
[NCBI]
|
0.00014785
|
|
|
urocanase deficiency
|
[NCBI]
|
0.000141743
|
|
|
glutamyl ribose-5-phosphate storage disease
|
[NCBI]
|
0.000141743
|
|
|
myopathy with storage of glycoproteins and glycosaminoglycans
|
[NCBI]
|
0.00012983
|
|
|
protoporphyria, erythropoietic
|
[NCBI]
|
0.000128364
|
|
|
adenylosuccinase deficiency
|
[NCBI]
|
9.93428e-05
|
|
|
cystathioninuria
|
[NCBI]
|
9.13745e-05
|
|
|
methionine adenosyltransferase deficiency
|
[NCBI]
|
8.55032e-05
|
|
|
APEX
|
[NCBI]
|
7.72511e-05
|
|
|
citrullinemia, classic
|
[NCBI]
|
6.77678e-05
|
|
|
SCA1
|
[NCBI]
|
5.56254e-05
|
|
|
porphyria variegata
|
[NCBI]
|
5.52965e-05
|
|
|
HLA-DPA1
|
[NCBI]
|
5.36423e-05
|
|
|
PAM
|
[NCBI]
|
5.36411e-05
|
|
|
PGM3
|
[NCBI]
|
5.18047e-05
|
|
|
SLE
|
[NCBI]
|
4.53715e-05
|
|
|
NFS1
|
[NCBI]
|
4.32634e-05
|
|
|
SCLY
|
[NCBI]
|
4.32634e-05
|
|
|
CCBL1
|
[NCBI]
|
3.58415e-05
|
|
|
HLA-A
|
[NCBI]
|
3.51412e-05
|
|
|
ASS
|
[NCBI]
|
3.3046e-05
|
|
|
KYNU
|
[NCBI]
|
3.30412e-05
|
|
|
UCHL5
|
[NCBI]
|
3.30412e-05
|
|
|
ESD
|
[NCBI]
|
3.19661e-05
|
|
|
RTT
|
[NCBI]
|
3.08808e-05
|
|
|
NTHL1
|
[NCBI]
|
2.98719e-05
|
|
|
USP5
|
[NCBI]
|
2.98719e-05
|
|
|
HAGH
|
[NCBI]
|
2.71343e-05
|
|
|
POLB
|
[NCBI]
|
2.48497e-05
|
|
|
OGG1
|
[NCBI]
|
2.36127e-05
|
|
|
CMPK1
|
[NCBI]
|
2.32571e-05
|
|
|
MAT1A
|
[NCBI]
|
2.29239e-05
|
|
|
ADSL
|
[NCBI]
|
2.23143e-05
|
|
|
PPOX
|
[NCBI]
|
1.90031e-05
|
|
|
complement component 2 deficiency
|
[NCBI]
|
1.78995e-05
|
|
|
IGHG1
|
[NCBI]
|
1.66851e-05
|
|
|
F13A1
|
[NCBI]
|
1.61257e-05
|
|
|
CF
|
[NCBI]
|
1.35656e-05
|
|
|
PG
|
[NCBI]
|
1.17689e-05
|
|
|
HMBS
|
[NCBI]
|
1.08534e-05
|
|
|
adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency
|
[NCBI]
|
9.87819e-06
|
|
|
PEDF
|
[NCBI]
|
9.22113e-06
|
|
|
PI
|
[NCBI]
|
7.56964e-06
|
|
|
STAR
|
[NCBI]
|
7.04224e-06
|
|
|
HP
|
[NCBI]
|
5.05525e-06
|
|
|
PRL
|
[NCBI]
|
1.74705e-06
|
|
|
PTH
|
[NCBI]
|
1.25033e-06
|
|
|
CHAT
|
[NCBI]
|
3.3251e-07
|
|
|
CEACAM5
|
[NCBI]
|
2.86416e-07
|
|
|
AVP
|
[NCBI]
|
2.13791e-07
|
|