|
OMIM |
Link |
Information gain |
01 |
|
thyroid hormonogenesis, genetic defect in, 4
|
[NCBI]
|
0.00254657
|
|
|
formiminotransferase deficiency
|
[NCBI]
|
0.000967639
|
|
|
GCE
|
[NCBI]
|
0.000913972
|
|
|
DDOST
|
[NCBI]
|
0.000708735
|
|
|
methionine adenosyltransferase deficiency
|
[NCBI]
|
0.000707984
|
|
|
RCDP3
|
[NCBI]
|
0.000387779
|
|
|
LNS
|
[NCBI]
|
0.000318461
|
|
|
RABGGTB
|
[NCBI]
|
0.000247665
|
|
|
HAS1
|
[NCBI]
|
0.000211635
|
|
|
HAS2
|
[NCBI]
|
0.000177013
|
|
|
gilbert syndrome
|
[NCBI]
|
0.000173433
|
|
|
HPRT1
|
[NCBI]
|
0.000170952
|
|
|
methylmalonic aciduria and homocystinuria, cblc type
|
[NCBI]
|
0.000166805
|
|
|
FDPS
|
[NCBI]
|
0.000164933
|
|
|
FNTA
|
[NCBI]
|
0.000139341
|
|
|
RABGGTA
|
[NCBI]
|
0.000139341
|
|
|
CHM
|
[NCBI]
|
0.000134625
|
|
|
hyaluronan metabolism, defect in
|
[NCBI]
|
0.000128844
|
|
|
galactosemia
|
[NCBI]
|
0.000124871
|
|
|
RA
|
[NCBI]
|
0.000122739
|
|
|
methylmalonic aciduria, cblb type
|
[NCBI]
|
0.00011694
|
|
|
orotic aciduria ii
|
[NCBI]
|
0.00011694
|
|
|
MAT1A
|
[NCBI]
|
0.000115296
|
|
|
HAS3
|
[NCBI]
|
0.000105619
|
|
|
hyperbilirubinemia, transient familial neonatal
|
[NCBI]
|
9.89093e-05
|
|
|
gout, hprt-related
|
[NCBI]
|
9.18665e-05
|
|
|
CDG1C
|
[NCBI]
|
9.18665e-05
|
|
|
AMT
|
[NCBI]
|
8.91375e-05
|
|
|
CDG2A
|
[NCBI]
|
8.65129e-05
|
|
|
acth deficiency
|
[NCBI]
|
8.42501e-05
|
|
|
sulfocysteinuria
|
[NCBI]
|
8.0314e-05
|
|
|
FBS
|
[NCBI]
|
7.27425e-05
|
|
|
RCDP1
|
[NCBI]
|
7.14956e-05
|
|
|
phosphoribosylpyrophosphate synthetase superactivity
|
[NCBI]
|
6.81297e-05
|
|
|
refsum disease, infantile form
|
[NCBI]
|
6.6142e-05
|
|
|
lecithin:cholesterol acyltransferase deficiency
|
[NCBI]
|
6.52121e-05
|
|
|
AGPS
|
[NCBI]
|
6.43661e-05
|
|
|
COX10
|
[NCBI]
|
6.19372e-05
|
|
|
osteogenesis imperfecta, type iia
|
[NCBI]
|
5.96231e-05
|
|
|
MTHFD1
|
[NCBI]
|
5.01312e-05
|
|
|
CHM
|
[NCBI]
|
4.70588e-05
|
|
|
TGM1
|
[NCBI]
|
4.34724e-05
|
|
|
PGGT1B
|
[NCBI]
|
4.11675e-05
|
|
|
ABO
|
[NCBI]
|
3.99492e-05
|
|
|
LS
|
[NCBI]
|
3.81865e-05
|
|
|
severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-negative, nk cell-negative, due to adenosine deaminase deficiency
|
[NCBI]
|
3.69756e-05
|
|
|
APRT
|
[NCBI]
|
3.50131e-05
|
|
|
GLY B+
|
[NCBI]
|
3.37464e-05
|
|
|
FNTB
|
[NCBI]
|
3.37464e-05
|
|
|
MTR
|
[NCBI]
|
3.14717e-05
|
|
|
RPN1
|
[NCBI]
|
3.09469e-05
|
|
|
COASY
|
[NCBI]
|
3.09469e-05
|
|
|
SRM
|
[NCBI]
|
3.09469e-05
|
|
|
ALDH1A3
|
[NCBI]
|
2.91298e-05
|
|
|
PTP4A1
|
[NCBI]
|
2.91298e-05
|
|
|
PTP4A2
|
[NCBI]
|
2.91298e-05
|
|
|
ALG10
|
[NCBI]
|
2.91298e-05
|
|
|
SHMT2
|
[NCBI]
|
2.91298e-05
|
|
|
IDI1
|
[NCBI]
|
2.91298e-05
|
|
|
homocystinuria
|
[NCBI]
|
2.87343e-05
|
|
|
RPL9
|
[NCBI]
|
2.77792e-05
|
|
|
PPAT
|
[NCBI]
|
2.77792e-05
|
|
|
ALG6
|
[NCBI]
|
2.67034e-05
|
|
|
KSR1
|
[NCBI]
|
2.5044e-05
|
|
|
GCSH
|
[NCBI]
|
2.5044e-05
|
|
|
leber optic atrophy
|
[NCBI]
|
2.44752e-05
|
|
|
CXCL10
|
[NCBI]
|
2.32476e-05
|
|
|
FUT1
|
[NCBI]
|
2.11731e-05
|
|
|
RAB27A
|
[NCBI]
|
2.08407e-05
|
|
|
GLDC
|
[NCBI]
|
2.0528e-05
|
|
|
TKT
|
[NCBI]
|
1.96878e-05
|
|
|
orotic aciduria i
|
[NCBI]
|
1.87429e-05
|
|
|
DLD
|
[NCBI]
|
1.79428e-05
|
|
|
MVK
|
[NCBI]
|
1.75844e-05
|
|
|
TYMS
|
[NCBI]
|
1.47751e-05
|
|
|
PGK1
|
[NCBI]
|
1.399e-05
|
|
|
NP
|
[NCBI]
|
1.3577e-05
|
|
|
SLC2A2
|
[NCBI]
|
1.3577e-05
|
|
|
tyrosinemia, type i
|
[NCBI]
|
1.34983e-05
|
|
|
ENPEP
|
[NCBI]
|
1.34208e-05
|
|
|
EIF4E
|
[NCBI]
|
1.33445e-05
|
|
|
G6PD
|
[NCBI]
|
1.29021e-05
|
|
|
CYP1A1
|
[NCBI]
|
1.21138e-05
|
|
|
ABCC2
|
[NCBI]
|
1.08866e-05
|
|
|
PAM
|
[NCBI]
|
1.00446e-05
|
|
|
GAPDH
|
[NCBI]
|
8.38574e-06
|
|
|
EGF
|
[NCBI]
|
7.02461e-06
|
|
|
COMP
|
[NCBI]
|
6.79e-06
|
|
|
PI
|
[NCBI]
|
5.7268e-06
|
|
|
LCAT
|
[NCBI]
|
4.03659e-06
|
|
|
FGF7
|
[NCBI]
|
3.60708e-06
|
|
|
TNF
|
[NCBI]
|
2.85712e-06
|
|
|
CEACAM5
|
[NCBI]
|
1.68906e-06
|
|
|
TH
|
[NCBI]
|
1.29159e-06
|
|
|
TG
|
[NCBI]
|
4.53409e-07
|
|
|
AFP
|
[NCBI]
|
1.82504e-07
|
|