|
OMIM |
Link |
Information gain |
01 |
|
AFP
|
[NCBI]
|
0.00448846
|
|
|
urogenital adysplasia, hereditary
|
[NCBI]
|
0.00359597
|
|
|
3-@hydroxyisobutyric aciduria
|
[NCBI]
|
0.00138332
|
|
|
succinic acidemia
|
[NCBI]
|
0.00138332
|
|
|
d-glyceric acidemia
|
[NCBI]
|
0.00107278
|
|
|
anencephaly
|
[NCBI]
|
0.000955856
|
|
|
short rib-polydactyly syndrome, type i
|
[NCBI]
|
0.000779137
|
|
|
constricting bands, congenital
|
[NCBI]
|
0.000682663
|
|
|
intestinal atresia, multiple
|
[NCBI]
|
0.000636124
|
|
|
ACG1A
|
[NCBI]
|
0.000636124
|
|
|
MKS1
|
[NCBI]
|
0.000469903
|
|
|
SLOS
|
[NCBI]
|
0.000401134
|
|
|
ACHE
|
[NCBI]
|
0.00033207
|
|
|
SLE
|
[NCBI]
|
0.000319083
|
|
|
HFM
|
[NCBI]
|
0.000286679
|
|
|
hypophosphatasia, infantile
|
[NCBI]
|
0.000246112
|
|
|
mucopolysaccharidosis type vii
|
[NCBI]
|
0.000237977
|
|
|
MADD
|
[NCBI]
|
0.000234197
|
|
|
adrenal hyperplasia, congenital, due to steroid 11-beta-hydroxylase deficiency
|
[NCBI]
|
0.000230429
|
|
|
CF
|
[NCBI]
|
0.000217169
|
|
|
bartter syndrome, antenatal, type 2
|
[NCBI]
|
0.000191059
|
|
|
TSD
|
[NCBI]
|
0.000178235
|
|
|
adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency
|
[NCBI]
|
0.000174148
|
|
|
LNS
|
[NCBI]
|
0.000169554
|
|
|
mucopolysaccharidosis type iiib
|
[NCBI]
|
0.000163907
|
|
|
glutathione synthetase deficiency
|
[NCBI]
|
0.000163907
|
|
|
acid phosphatase deficiency
|
[NCBI]
|
0.000162663
|
|
|
aromatic l-amino acid decarboxylase deficiency
|
[NCBI]
|
0.000162663
|
|
|
PAEP
|
[NCBI]
|
0.000161346
|
|
|
dystrophia myotonica 1
|
[NCBI]
|
0.000153716
|
|
|
niemann-pick disease, type a
|
[NCBI]
|
0.000149044
|
|
|
glutaric acidemia i
|
[NCBI]
|
0.000149044
|
|
|
pyruvate carboxylase deficiency
|
[NCBI]
|
0.00013742
|
|
|
sialuria, finnish type
|
[NCBI]
|
0.000134872
|
|
|
epidermolysis bullosa with pyloric atresia
|
[NCBI]
|
0.000132442
|
|
|
severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-negative, nk cell-negative, due to adenosine deaminase deficiency
|
[NCBI]
|
0.000130998
|
|
|
thymic-renal-anal-lung dysplasia
|
[NCBI]
|
0.000123476
|
|
|
3-@methylglutaconic aciduria, type iv
|
[NCBI]
|
0.000123476
|
|
|
krabbe disease
|
[NCBI]
|
0.000110255
|
|
|
galactosemia
|
[NCBI]
|
0.000109725
|
|
|
bartter syndrome, antenatal, type 1
|
[NCBI]
|
0.000108742
|
|
|
mevalonic aciduria
|
[NCBI]
|
0.000108742
|
|
|
CTNS
|
[NCBI]
|
0.000108219
|
|
|
ARPKD
|
[NCBI]
|
0.000106756
|
|
|
hurler syndrome
|
[NCBI]
|
0.000105335
|
|
|
3-@methylglutaconic aciduria, type iii
|
[NCBI]
|
9.92056e-05
|
|
|
acrorenal-mandibular syndrome
|
[NCBI]
|
9.21377e-05
|
|
|
schneckenbecken dysplasia
|
[NCBI]
|
9.21377e-05
|
|
|
metachromatic leukodystrophy
|
[NCBI]
|
9.19199e-05
|
|
|
PRL
|
[NCBI]
|
8.89187e-05
|
|
|
3-@methylglutaconic aciduria, type i
|
[NCBI]
|
8.65236e-05
|
|
|
peroxisomal acyl-coa oxidase deficiency
|
[NCBI]
|
8.18702e-05
|
|
|
methylmalonic aciduria, cbla type
|
[NCBI]
|
8.18702e-05
|
|
|
succinyl-coa:3-oxoacid coa transferase deficiency
|
[NCBI]
|
7.44397e-05
|
|
|
SMDP1
|
[NCBI]
|
7.44397e-05
|
|
|
gaucher disease, type ii
|
[NCBI]
|
7.44397e-05
|
|
|
menkes disease
|
[NCBI]
|
7.43301e-05
|
|
|
molybdenum cofactor deficiency
|
[NCBI]
|
7.1376e-05
|
|
|
galactose epimerase deficiency
|
[NCBI]
|
6.86288e-05
|
|
|
porphyria, congenital erythropoietic
|
[NCBI]
|
6.86288e-05
|
|
|
neural tube defects
|
[NCBI]
|
6.86288e-05
|
|
|
succinic semialdehyde dehydrogenase deficiency
|
[NCBI]
|
6.61405e-05
|
|
|
PTHLH
|
[NCBI]
|
6.48339e-05
|
|
|
argininosuccinic aciduria
|
[NCBI]
|
6.38675e-05
|
|
|
propionic acidemia
|
[NCBI]
|
6.38675e-05
|
|
|
chromosome 18q deletion syndrome
|
[NCBI]
|
6.38675e-05
|
|
|
GCE
|
[NCBI]
|
6.17768e-05
|
|
|
COFS1
|
[NCBI]
|
6.17768e-05
|
|
|
mitochondrial dna depletion syndrome, hepatocerebral form
|
[NCBI]
|
5.98422e-05
|
|
|
NPHS1
|
[NCBI]
|
5.80428e-05
|
|
|
diarrhea 1, secretory chloride, congenital
|
[NCBI]
|
5.63618e-05
|
|
|
ZS
|
[NCBI]
|
5.61061e-05
|
|
|
NPY
|
[NCBI]
|
5.37467e-05
|
|
|
AFD1
|
[NCBI]
|
5.33011e-05
|
|
|
niemann-pick disease, type b
|
[NCBI]
|
5.33011e-05
|
|
|
ehlers-danlos syndrome, type vi
|
[NCBI]
|
5.33011e-05
|
|
|
INSL4
|
[NCBI]
|
5.21708e-05
|
|
|
OCRL
|
[NCBI]
|
5.19001e-05
|
|
|
NGFB
|
[NCBI]
|
5.13679e-05
|
|
|
mucopolysaccharidosis type vi
|
[NCBI]
|
4.93149e-05
|
|
|
FUT2
|
[NCBI]
|
4.8979e-05
|
|
|
EBR1
|
[NCBI]
|
4.81175e-05
|
|
|
TH
|
[NCBI]
|
4.64056e-05
|
|
|
mucolipidosis iv
|
[NCBI]
|
4.58862e-05
|
|
|
gm1-gangliosidosis, type i
|
[NCBI]
|
4.58862e-05
|
|
|
RBS
|
[NCBI]
|
4.48435e-05
|
|
|
porphyria, acute intermittent
|
[NCBI]
|
4.38444e-05
|
|
|
DMD
|
[NCBI]
|
4.36098e-05
|
|
|
ZFP37
|
[NCBI]
|
4.31821e-05
|
|
|
HSAS
|
[NCBI]
|
4.28857e-05
|
|
|
XPA
|
[NCBI]
|
4.10782e-05
|
|
|
PKS
|
[NCBI]
|
4.02245e-05
|
|
|
HHF1
|
[NCBI]
|
3.86066e-05
|
|
|
DLK1
|
[NCBI]
|
3.78181e-05
|
|
|
CSA
|
[NCBI]
|
3.70963e-05
|
|
|
bullous erythroderma ichthyosiformis congenita of brocq
|
[NCBI]
|
3.70963e-05
|
|
|
ABP1
|
[NCBI]
|
3.66865e-05
|
|
|
mannosidosis, alpha b, lysosomal
|
[NCBI]
|
3.63776e-05
|
|
|
mucopolysaccharidosis type iva
|
[NCBI]
|
3.60294e-05
|
|
|
HHF2
|
[NCBI]
|
3.3716e-05
|
|
|
BTHS
|
[NCBI]
|
3.30986e-05
|
|
|
LEP
|
[NCBI]
|
3.25562e-05
|
|
|
methemoglobinemia due to deficiency of methemoglobin reductase
|
[NCBI]
|
3.0229e-05
|
|
|
SLPI
|
[NCBI]
|
2.89263e-05
|
|
|
neuraminidase deficiency
|
[NCBI]
|
2.77553e-05
|
|
|
gaucher disease, type i
|
[NCBI]
|
2.72907e-05
|
|
|
SLS
|
[NCBI]
|
2.68367e-05
|
|
|
AZGP1
|
[NCBI]
|
2.52351e-05
|
|
|
BWS
|
[NCBI]
|
2.45684e-05
|
|
|
CES
|
[NCBI]
|
2.39271e-05
|
|
|
EV
|
[NCBI]
|
2.35458e-05
|
|
|
LBP
|
[NCBI]
|
2.29792e-05
|
|
|
VEGF
|
[NCBI]
|
2.19792e-05
|
|
|
HBB
|
[NCBI]
|
2.19664e-05
|
|
|
FA
|
[NCBI]
|
2.01488e-05
|
|
|
PSG1
|
[NCBI]
|
1.99319e-05
|
|
|
CHAT
|
[NCBI]
|
1.96587e-05
|
|
|
GDF15
|
[NCBI]
|
1.92285e-05
|
|
|
SFTPD
|
[NCBI]
|
1.92285e-05
|
|
|
DDC
|
[NCBI]
|
1.88822e-05
|
|
|
PTS
|
[NCBI]
|
1.85908e-05
|
|
|
phenylketonuria ii
|
[NCBI]
|
1.85908e-05
|
|
|
KLK3
|
[NCBI]
|
1.85877e-05
|
|
|
AS
|
[NCBI]
|
1.83241e-05
|
|
|
BDNF
|
[NCBI]
|
1.82158e-05
|
|
|
GUSB
|
[NCBI]
|
1.80499e-05
|
|
|
HPRT1
|
[NCBI]
|
1.7917e-05
|
|
|
fabry disease
|
[NCBI]
|
1.7536e-05
|
|
|
AQP9
|
[NCBI]
|
1.74713e-05
|
|
|
C4B
|
[NCBI]
|
1.69744e-05
|
|
|
RHD
|
[NCBI]
|
1.69744e-05
|
|
|
ANXA5
|
[NCBI]
|
1.65118e-05
|
|
|
DEFA1
|
[NCBI]
|
1.56734e-05
|
|
|
GCDH
|
[NCBI]
|
1.56734e-05
|
|
|
EPHX1
|
[NCBI]
|
1.52911e-05
|
|
|
PLOD1
|
[NCBI]
|
1.49298e-05
|
|
|
XPC
|
[NCBI]
|
1.49298e-05
|
|
|
TNF
|
[NCBI]
|
1.48697e-05
|
|
|
PTH
|
[NCBI]
|
1.47007e-05
|
|
|
COL4A1
|
[NCBI]
|
1.45875e-05
|
|
|
transcobalamin ii deficiency
|
[NCBI]
|
1.42623e-05
|
|
|
IL6
|
[NCBI]
|
1.4066e-05
|
|
|
ALDH3A2
|
[NCBI]
|
1.39528e-05
|
|
|
CPM
|
[NCBI]
|
1.36575e-05
|
|
|
fragile x mental retardation syndrome
|
[NCBI]
|
1.35925e-05
|
|
|
PMD
|
[NCBI]
|
1.33914e-05
|
|
|
CRH
|
[NCBI]
|
1.27407e-05
|
|
|
GIP
|
[NCBI]
|
1.27117e-05
|
|
|
AQP3
|
[NCBI]
|
1.25971e-05
|
|
|
TFPI2
|
[NCBI]
|
1.23577e-05
|
|
|
fucosidosis
|
[NCBI]
|
1.21273e-05
|
|
|
GAMT
|
[NCBI]
|
1.19051e-05
|
|
|
GC
|
[NCBI]
|
1.16907e-05
|
|
|
aspartylglucosaminuria
|
[NCBI]
|
1.14835e-05
|
|
|
CEACAM5
|
[NCBI]
|
1.14594e-05
|
|
|
ALD
|
[NCBI]
|
1.09391e-05
|
|
|
CFTR
|
[NCBI]
|
1.0806e-05
|
|
|
INHBA
|
[NCBI]
|
1.07192e-05
|
|
|
AVP
|
[NCBI]
|
1.05986e-05
|
|
|
GH1
|
[NCBI]
|
9.88428e-06
|
|
|
MBP
|
[NCBI]
|
9.80709e-06
|
|
|
APRT
|
[NCBI]
|
9.76671e-06
|
|
|
wolman disease
|
[NCBI]
|
9.73072e-06
|
|
|
neuraminidase deficiency with beta-galactosidase deficiency
|
[NCBI]
|
9.73072e-06
|
|
|
tyrosinemia, type i
|
[NCBI]
|
9.4354e-06
|
|
|
MMP9
|
[NCBI]
|
9.15463e-06
|
|
|
ACE
|
[NCBI]
|
8.94085e-06
|
|
|
HEXA
|
[NCBI]
|
8.50875e-06
|
|
|
homocystinuria
|
[NCBI]
|
8.50875e-06
|
|
|
hemophilia a
|
[NCBI]
|
8.38818e-06
|
|
|
NP
|
[NCBI]
|
8.27022e-06
|
|
|
PCI
|
[NCBI]
|
8.27022e-06
|
|
|
F3
|
[NCBI]
|
7.52006e-06
|
|
|
phenylketonuria
|
[NCBI]
|
7.31181e-06
|
|
|
IGFALS
|
[NCBI]
|
7.21542e-06
|
|
|
EGF
|
[NCBI]
|
6.54872e-06
|
|
|
APOE
|
[NCBI]
|
6.47995e-06
|
|
|
AMH
|
[NCBI]
|
6.42806e-06
|
|
|
HGF
|
[NCBI]
|
6.41577e-06
|
|
|
mucopolysaccharidosis type ii
|
[NCBI]
|
6.3415e-06
|
|
|
ASS
|
[NCBI]
|
5.95719e-06
|
|
|
AQP1
|
[NCBI]
|
5.74089e-06
|
|
|
EPO
|
[NCBI]
|
5.73121e-06
|
|
|
ichthyosis, x-linked
|
[NCBI]
|
5.40175e-06
|
|
|
PC
|
[NCBI]
|
4.46641e-06
|
|
|
DGS
|
[NCBI]
|
4.43521e-06
|
|
|
PTN
|
[NCBI]
|
4.16433e-06
|
|
|
MBL2
|
[NCBI]
|
4.02171e-06
|
|
|
CHS
|
[NCBI]
|
3.98495e-06
|
|
|
PF4
|
[NCBI]
|
3.76448e-06
|
|
|
PWS
|
[NCBI]
|
3.56807e-06
|
|
|
NPPA
|
[NCBI]
|
3.51562e-06
|
|
|
TNC
|
[NCBI]
|
3.343e-06
|
|
|
TTR
|
[NCBI]
|
3.32914e-06
|
|
|
AGER
|
[NCBI]
|
3.19228e-06
|
|
|
G6PD
|
[NCBI]
|
3.18688e-06
|
|
|
MG
|
[NCBI]
|
2.99261e-06
|
|
|
ADA
|
[NCBI]
|
2.98002e-06
|
|
|
RNASE3
|
[NCBI]
|
2.32233e-06
|
|
|
SERPINA6
|
[NCBI]
|
2.04582e-06
|
|
|
SHBG
|
[NCBI]
|
1.95063e-06
|
|
|
HP
|
[NCBI]
|
1.8347e-06
|
|
|
BCHE
|
[NCBI]
|
1.6014e-06
|
|
|
TNFRSF11B
|
[NCBI]
|
1.42823e-06
|
|
|
CP
|
[NCBI]
|
1.20514e-06
|
|
|
OXT
|
[NCBI]
|
1.14199e-06
|
|
|
hla-d histocompatibility type
|
[NCBI]
|
1.07499e-06
|
|
|
INS
|
[NCBI]
|
1.02304e-06
|
|
|
ADM
|
[NCBI]
|
6.6489e-07
|
|
|
TNFSF10
|
[NCBI]
|
4.58135e-07
|
|
|
TFPI
|
[NCBI]
|
2.67161e-07
|
|
|
GFAP
|
[NCBI]
|
8.63744e-08
|
|
|
MUC1
|
[NCBI]
|
3.62544e-08
|
|