|
OMIM |
Link |
Information gain |
01 |
|
CF
|
[NCBI]
|
0.00534923
|
|
|
sudden infant death syndrome
|
[NCBI]
|
0.00044343
|
|
|
ACADM
|
[NCBI]
|
0.000384268
|
|
|
G6PD
|
[NCBI]
|
0.0003734
|
|
|
biotinidase deficiency
|
[NCBI]
|
0.000343887
|
|
|
isobutyryl-coa dehydrogenase deficiency
|
[NCBI]
|
0.00030803
|
|
|
IVA
|
[NCBI]
|
0.000291327
|
|
|
acyl-coa dehydrogenase, medium-chain, deficiency of
|
[NCBI]
|
0.000173052
|
|
|
adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency
|
[NCBI]
|
0.000164254
|
|
|
3-@methylcrotonyl-coa carboxylase 1 deficiency
|
[NCBI]
|
0.000131276
|
|
|
CFTR
|
[NCBI]
|
0.000102452
|
|
|
hypophosphatasia, childhood
|
[NCBI]
|
8.98638e-05
|
|
|
phenylketonuria
|
[NCBI]
|
8.38722e-05
|
|
|
homocystinuria
|
[NCBI]
|
8.22229e-05
|
|
|
thyroid hormonogenesis, genetic defect in, 6
|
[NCBI]
|
7.94372e-05
|
|
|
IVD
|
[NCBI]
|
7.84657e-05
|
|
|
ACADS
|
[NCBI]
|
7.29551e-05
|
|
|
malonyl-coa decarboxylase deficiency
|
[NCBI]
|
7.2686e-05
|
|
|
galactosemia
|
[NCBI]
|
7.12853e-05
|
|
|
HBG2
|
[NCBI]
|
6.83944e-05
|
|
|
3-@methylcrotonyl-coa carboxylase 2 deficiency
|
[NCBI]
|
6.76804e-05
|
|
|
tyrosinemia, type iii
|
[NCBI]
|
6.37029e-05
|
|
|
REG3A
|
[NCBI]
|
6.20331e-05
|
|
|
DUOX2
|
[NCBI]
|
5.63421e-05
|
|
|
BTD
|
[NCBI]
|
5.54616e-05
|
|
|
carnitine palmitoyltransferase ii deficiency, lethal neonatal
|
[NCBI]
|
5.51351e-05
|
|
|
TSHB
|
[NCBI]
|
5.24791e-05
|
|
|
galactokinase deficiency
|
[NCBI]
|
5.10107e-05
|
|
|
argininosuccinic aciduria
|
[NCBI]
|
4.76285e-05
|
|
|
methionine adenosyltransferase deficiency
|
[NCBI]
|
4.61424e-05
|
|
|
GCDH
|
[NCBI]
|
4.60449e-05
|
|
|
holocarboxylase synthetase deficiency
|
[NCBI]
|
4.47667e-05
|
|
|
hypophosphatasia, adult type
|
[NCBI]
|
4.47667e-05
|
|
|
GAMT
|
[NCBI]
|
4.30377e-05
|
|
|
thyroid hormonogenesis, genetic defect in, 2a
|
[NCBI]
|
4.22902e-05
|
|
|
FBS
|
[NCBI]
|
4.11676e-05
|
|
|
severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-negative, nk cell-positive
|
[NCBI]
|
3.91122e-05
|
|
|
HBA1
|
[NCBI]
|
3.81764e-05
|
|
|
ASL
|
[NCBI]
|
3.80776e-05
|
|
|
long-chain 3-hydroxyacyl-coa dehydrogenase deficiency
|
[NCBI]
|
3.72688e-05
|
|
|
MADD
|
[NCBI]
|
3.64144e-05
|
|
|
HBFQTL1
|
[NCBI]
|
3.3362e-05
|
|
|
hypophosphatasia, infantile
|
[NCBI]
|
3.13829e-05
|
|
|
cystinuria
|
[NCBI]
|
3.01817e-05
|
|
|
AUH
|
[NCBI]
|
2.91399e-05
|
|
|
walker-warburg syndrome
|
[NCBI]
|
2.85288e-05
|
|
|
sandhoff disease
|
[NCBI]
|
2.85288e-05
|
|
|
SLOS
|
[NCBI]
|
2.81805e-05
|
|
|
TG
|
[NCBI]
|
2.76384e-05
|
|
|
PDS
|
[NCBI]
|
2.70279e-05
|
|
|
CDSP
|
[NCBI]
|
2.56557e-05
|
|
|
aortic valve disease
|
[NCBI]
|
2.3995e-05
|
|
|
HLCS
|
[NCBI]
|
2.38146e-05
|
|
|
SFTPC
|
[NCBI]
|
2.38146e-05
|
|
|
neuroblastoma
|
[NCBI]
|
2.32273e-05
|
|
|
GALE
|
[NCBI]
|
2.29983e-05
|
|
|
down syndrome
|
[NCBI]
|
2.24968e-05
|
|
|
maple syrup urine disease
|
[NCBI]
|
2.21445e-05
|
|
|
PTS
|
[NCBI]
|
2.19542e-05
|
|
|
BHMT
|
[NCBI]
|
2.19542e-05
|
|
|
CLS
|
[NCBI]
|
2.18004e-05
|
|
|
GALK1
|
[NCBI]
|
2.13493e-05
|
|
|
SFTPB
|
[NCBI]
|
2.13493e-05
|
|
|
CPT2
|
[NCBI]
|
2.10689e-05
|
|
|
SLC5A5
|
[NCBI]
|
2.08013e-05
|
|
|
SLC3A1
|
[NCBI]
|
2.00655e-05
|
|
|
LQT1
|
[NCBI]
|
1.98907e-05
|
|
|
SLC22A5
|
[NCBI]
|
1.96221e-05
|
|
|
LPI
|
[NCBI]
|
1.79468e-05
|
|
|
velocardiofacial syndrome
|
[NCBI]
|
1.79468e-05
|
|
|
TPO
|
[NCBI]
|
1.78052e-05
|
|
|
SLC26A4
|
[NCBI]
|
1.76528e-05
|
|
|
AVSD
|
[NCBI]
|
1.69494e-05
|
|
|
GALT
|
[NCBI]
|
1.56326e-05
|
|
|
OTC
|
[NCBI]
|
1.54241e-05
|
|
|
SLC2A2
|
[NCBI]
|
1.51252e-05
|
|
|
cortisol 11-beta-ketoreductase deficiency
|
[NCBI]
|
1.475e-05
|
|
|
MTHFR
|
[NCBI]
|
1.31125e-05
|
|
|
VEGF
|
[NCBI]
|
1.28432e-05
|
|
|
fabry disease
|
[NCBI]
|
1.2543e-05
|
|
|
WT1
|
[NCBI]
|
1.22135e-05
|
|
|
SPINK1
|
[NCBI]
|
1.08367e-05
|
|
|
HBA2
|
[NCBI]
|
1.05789e-05
|
|
|
HBB
|
[NCBI]
|
8.89534e-06
|
|
|
HFE
|
[NCBI]
|
8.59115e-06
|
|
|
GJB2
|
[NCBI]
|
8.56297e-06
|
|
|
PI
|
[NCBI]
|
6.34315e-06
|
|
|
APOE
|
[NCBI]
|
5.80796e-06
|
|
|
NGFB
|
[NCBI]
|
4.588e-06
|
|
|
DMD
|
[NCBI]
|
3.9246e-06
|
|
|
TSD
|
[NCBI]
|
3.33036e-06
|
|
|
CPI
|
[NCBI]
|
3.08385e-06
|
|
|
KLK3
|
[NCBI]
|
1.46015e-06
|
|
|
APOB
|
[NCBI]
|
1.45212e-06
|
|
|
ADA
|
[NCBI]
|
1.15247e-06
|
|