|
OMIM |
Link |
Information gain |
01 |
|
diabetes mellitus, transient neonatal, 1
|
[NCBI]
|
0.00224248
|
|
|
ACG1A
|
[NCBI]
|
0.001932
|
|
|
reticular dysgenesia
|
[NCBI]
|
0.00104191
|
|
|
metatropic dwarfism
|
[NCBI]
|
0.000984771
|
|
|
pelizaeus-merzbacher-like disease, autosomal recessive, 2
|
[NCBI]
|
0.000984771
|
|
|
fatty metamorphosis of viscera
|
[NCBI]
|
0.000936749
|
|
|
polyneuropathy, lethal neonatal, axonal sensorimotor, autosomal recessive
|
[NCBI]
|
0.000817936
|
|
|
myopathy, congenital
|
[NCBI]
|
0.000817936
|
|
|
polydactyly, preaxial iii
|
[NCBI]
|
0.000817936
|
|
|
progeroid syndrome, neonatal
|
[NCBI]
|
0.000770765
|
|
|
AMCN
|
[NCBI]
|
0.000746384
|
|
|
TARPS
|
[NCBI]
|
0.000600836
|
|
|
ectodermal dysplasia, absent dermatoglyphic pattern, changes in nails, and simian crease
|
[NCBI]
|
0.000519427
|
|
|
volvulus of midgut
|
[NCBI]
|
0.000519427
|
|
|
pyloric stenosis, infantile hypertrophic, 2
|
[NCBI]
|
0.000519427
|
|
|
lymphangiectasia, intestinal
|
[NCBI]
|
0.000519427
|
|
|
renal-hepatic-pancreatic dysplasia with dandy-walker cyst
|
[NCBI]
|
0.000466862
|
|
|
CNA1
|
[NCBI]
|
0.000466862
|
|
|
ATD1
|
[NCBI]
|
0.000453257
|
|
|
TD1
|
[NCBI]
|
0.00044499
|
|
|
thrombocytopenia, autosomal recessive
|
[NCBI]
|
0.000427995
|
|
|
keratosis palmoplantaris papulosa
|
[NCBI]
|
0.000397197
|
|
|
angioma, hereditary neurocutaneous
|
[NCBI]
|
0.000397197
|
|
|
short rib-polydactyly syndrome, type i
|
[NCBI]
|
0.00037173
|
|
|
CHED1
|
[NCBI]
|
0.00037173
|
|
|
TAPVR1
|
[NCBI]
|
0.000350052
|
|
|
strabismus, susceptibility to
|
[NCBI]
|
0.000331207
|
|
|
renal hamartomas, nephroblastomatosis, and fetal gigantism
|
[NCBI]
|
0.000314561
|
|
|
EBN1
|
[NCBI]
|
0.000311068
|
|
|
kyphomelic dysplasia
|
[NCBI]
|
0.000299673
|
|
|
short rib-polydactyly syndrome, type iii
|
[NCBI]
|
0.000299673
|
|
|
diarrhea 2, with microvillous atrophy
|
[NCBI]
|
0.000299673
|
|
|
NSHPT
|
[NCBI]
|
0.000267959
|
|
|
ACC
|
[NCBI]
|
0.000233736
|
|
|
CGF
|
[NCBI]
|
0.000225343
|
|
|
DHS
|
[NCBI]
|
0.000203043
|
|
|
RCDP1
|
[NCBI]
|
0.000193417
|
|
|
diaphragmatic hernia, congenital
|
[NCBI]
|
0.00018415
|
|
|
hashimoto thyroiditis
|
[NCBI]
|
0.000173029
|
|
|
AIC
|
[NCBI]
|
0.000167842
|
|
|
carbamoyl phosphate synthetase i deficiency, hyperammonemia due to
|
[NCBI]
|
0.000167221
|
|
|
ornithine transcarbamylase deficiency, hyperammonemia due to
|
[NCBI]
|
0.000161445
|
|
|
thrombocytopenia-absent radius syndrome
|
[NCBI]
|
0.000149184
|
|
|
myeloproliferative syndrome, transient
|
[NCBI]
|
0.000144973
|
|
|
citrullinemia, classic
|
[NCBI]
|
0.000141017
|
|
|
holoprosencephaly
|
[NCBI]
|
0.000137018
|
|
|
hypercalcemia, idiopathic, of infancy
|
[NCBI]
|
0.000130981
|
|
|
CINCA
|
[NCBI]
|
0.000130981
|
|
|
lactic acidosis, fatal infantile
|
[NCBI]
|
0.000125978
|
|
|
hyperbilirubinemia, transient familial neonatal
|
[NCBI]
|
0.000125978
|
|
|
indifference to pain, congenital, autosomal recessive
|
[NCBI]
|
0.00010604
|
|
|
ACG2
|
[NCBI]
|
0.00010604
|
|
|
SLE
|
[NCBI]
|
0.000104295
|
|
|
IHPS1
|
[NCBI]
|
0.000103668
|
|
|
argininosuccinic aciduria
|
[NCBI]
|
9.9403e-05
|
|
|
afibrinogenemia, congenital
|
[NCBI]
|
9.9403e-05
|
|
|
PHA1
|
[NCBI]
|
9.9403e-05
|
|
|
bowen syndrome of multiple malformations
|
[NCBI]
|
9.93049e-05
|
|
|
contiguous abcd1/dxs1375e deletion syndrome
|
[NCBI]
|
9.93049e-05
|
|
|
diabetes mellitus, neonatal, with congenital hypothyroidism
|
[NCBI]
|
9.93049e-05
|
|
|
HBZ
|
[NCBI]
|
9.61224e-05
|
|
|
diarrhea 1, secretory chloride, congenital
|
[NCBI]
|
9.39309e-05
|
|
|
IPEX
|
[NCBI]
|
9.23016e-05
|
|
|
pyruvate carboxylase deficiency
|
[NCBI]
|
8.92796e-05
|
|
|
transcobalamin ii deficiency
|
[NCBI]
|
8.41033e-05
|
|
|
GCE
|
[NCBI]
|
8.28122e-05
|
|
|
biotinidase deficiency
|
[NCBI]
|
8.28122e-05
|
|
|
enterocolitis
|
[NCBI]
|
7.68676e-05
|
|
|
convulsive disorder, familial, with prenatal or early onset
|
[NCBI]
|
7.68676e-05
|
|
|
deafness, congenital, with total albinism
|
[NCBI]
|
7.68676e-05
|
|
|
diabetes mellitus, transient neonatal, 2
|
[NCBI]
|
7.68676e-05
|
|
|
brain small vessel disease with hemorrhage
|
[NCBI]
|
7.68676e-05
|
|
|
GLIS3
|
[NCBI]
|
7.57054e-05
|
|
|
ZS
|
[NCBI]
|
7.48486e-05
|
|
|
HHC1
|
[NCBI]
|
6.97574e-05
|
|
|
diabetes mellitus, permanent neonatal, with cerebellar agenesis
|
[NCBI]
|
6.84208e-05
|
|
|
hypoplastic left heart syndrome
|
[NCBI]
|
6.84208e-05
|
|
|
testicular torsion
|
[NCBI]
|
6.84208e-05
|
|
|
craniotelencephalic dysplasia
|
[NCBI]
|
6.84208e-05
|
|
|
HHF1
|
[NCBI]
|
6.75731e-05
|
|
|
LI1
|
[NCBI]
|
6.36392e-05
|
|
|
HHF4
|
[NCBI]
|
6.29478e-05
|
|
|
dehydrated hereditary stomatocytosis, pseudohyperkalemia, and perinatal edema
|
[NCBI]
|
6.29478e-05
|
|
|
pierre robin syndrome
|
[NCBI]
|
6.29478e-05
|
|
|
galactosemia
|
[NCBI]
|
6.24379e-05
|
|
|
HPA-2
|
[NCBI]
|
6.19295e-05
|
|
|
HP
|
[NCBI]
|
6.06344e-05
|
|
|
melanosis, neurocutaneous
|
[NCBI]
|
5.88873e-05
|
|
|
camptomelic syndrome, long-limb type
|
[NCBI]
|
5.88873e-05
|
|
|
hydroxyprolinemia
|
[NCBI]
|
5.88873e-05
|
|
|
lactase deficiency, congenital
|
[NCBI]
|
5.88873e-05
|
|
|
ARPKD
|
[NCBI]
|
5.80796e-05
|
|
|
thrombocytopenic purpura, autoimmune
|
[NCBI]
|
5.75682e-05
|
|
|
BCAP31
|
[NCBI]
|
5.67329e-05
|
|
|
ALB
|
[NCBI]
|
5.56809e-05
|
|
|
PLSDT
|
[NCBI]
|
5.56585e-05
|
|
|
CNA2
|
[NCBI]
|
5.56585e-05
|
|
|
neutrophil-specific antigen 1
|
[NCBI]
|
5.33599e-05
|
|
|
hyperthyroidism, nonautoimmune
|
[NCBI]
|
5.29795e-05
|
|
|
LAG5
|
[NCBI]
|
5.08531e-05
|
|
|
PCK2
|
[NCBI]
|
5.08531e-05
|
|
|
TD2
|
[NCBI]
|
5.06911e-05
|
|
|
hyperalphalipoproteinemia
|
[NCBI]
|
5.06911e-05
|
|
|
pancreatic agenesis, congenital
|
[NCBI]
|
5.06911e-05
|
|
|
G6PD
|
[NCBI]
|
4.90934e-05
|
|
|
HADH
|
[NCBI]
|
4.88563e-05
|
|
|
KCNQ3
|
[NCBI]
|
4.88563e-05
|
|
|
CGD
|
[NCBI]
|
4.87262e-05
|
|
|
pyruvate dehydrogenase e3-binding protein deficiency
|
[NCBI]
|
4.86949e-05
|
|
|
menkes disease
|
[NCBI]
|
4.73229e-05
|
|
|
hexokinase deficiency hemolytic anemia
|
[NCBI]
|
4.69254e-05
|
|
|
CPS1
|
[NCBI]
|
4.57765e-05
|
|
|
PDHX
|
[NCBI]
|
4.57765e-05
|
|
|
LS
|
[NCBI]
|
4.53476e-05
|
|
|
SCN3
|
[NCBI]
|
4.5337e-05
|
|
|
epiphyseal dysplasia, multiple, with early-onset diabetes mellitus
|
[NCBI]
|
4.5337e-05
|
|
|
complement component 5 deficiency
|
[NCBI]
|
4.5337e-05
|
|
|
hemoglobin--variants for which the chain carrying the mutation is unknown or uncertain
|
[NCBI]
|
4.5337e-05
|
|
|
FCGR3A
|
[NCBI]
|
4.45356e-05
|
|
|
FFS
|
[NCBI]
|
4.38966e-05
|
|
|
SMDP1
|
[NCBI]
|
4.38966e-05
|
|
|
methionine adenosyltransferase deficiency
|
[NCBI]
|
4.25796e-05
|
|
|
TCIRG1
|
[NCBI]
|
4.24427e-05
|
|
|
SLC45A2
|
[NCBI]
|
4.24427e-05
|
|
|
SFTPB
|
[NCBI]
|
4.15427e-05
|
|
|
PC1
|
[NCBI]
|
4.13667e-05
|
|
|
mast cell disease
|
[NCBI]
|
4.13667e-05
|
|
|
hemochromatosis, neonatal
|
[NCBI]
|
4.13667e-05
|
|
|
PNDM
|
[NCBI]
|
4.13667e-05
|
|
|
NEU1
|
[NCBI]
|
4.07182e-05
|
|
|
GALE
|
[NCBI]
|
4.07182e-05
|
|
|
gaucher disease, type ii
|
[NCBI]
|
4.02432e-05
|
|
|
KCNQ2
|
[NCBI]
|
3.92518e-05
|
|
|
EPD
|
[NCBI]
|
3.91971e-05
|
|
|
LRS1
|
[NCBI]
|
3.91971e-05
|
|
|
phenylketonuria
|
[NCBI]
|
3.89292e-05
|
|
|
GPX1
|
[NCBI]
|
3.85935e-05
|
|
|
galactose epimerase deficiency
|
[NCBI]
|
3.82187e-05
|
|
|
pearson marrow-pancreas syndrome
|
[NCBI]
|
3.82187e-05
|
|
|
galactokinase deficiency
|
[NCBI]
|
3.82187e-05
|
|
|
myasthenic syndrome, congenital, associated with episodic apnea
|
[NCBI]
|
3.82187e-05
|
|
|
NETH
|
[NCBI]
|
3.72999e-05
|
|
|
septooptic dysplasia
|
[NCBI]
|
3.72999e-05
|
|
|
HBG2
|
[NCBI]
|
3.68487e-05
|
|
|
omenn syndrome
|
[NCBI]
|
3.64343e-05
|
|
|
MCPH1
|
[NCBI]
|
3.64343e-05
|
|
|
TGM1
|
[NCBI]
|
3.58378e-05
|
|
|
HNF1B
|
[NCBI]
|
3.4922e-05
|
|
|
cutis laxa, autosomal recessive, type i
|
[NCBI]
|
3.48406e-05
|
|
|
GACI
|
[NCBI]
|
3.3402e-05
|
|
|
KCNJ11
|
[NCBI]
|
3.33146e-05
|
|
|
EPHX1
|
[NCBI]
|
3.29512e-05
|
|
|
acyl-coa dehydrogenase, medium-chain, deficiency of
|
[NCBI]
|
3.27324e-05
|
|
|
NPHS1
|
[NCBI]
|
3.27324e-05
|
|
|
methylmalonic aciduria due to methylmalonyl-coa mutase deficiency
|
[NCBI]
|
3.20921e-05
|
|
|
HBG1
|
[NCBI]
|
3.13147e-05
|
|
|
hyperimmunoglobulin e recurrent infection syndrome, autosomal dominant
|
[NCBI]
|
3.08906e-05
|
|
|
donohue syndrome
|
[NCBI]
|
3.08906e-05
|
|
|
sudden infant death syndrome
|
[NCBI]
|
3.08906e-05
|
|
|
GAA
|
[NCBI]
|
3.07308e-05
|
|
|
OPTB1
|
[NCBI]
|
3.03255e-05
|
|
|
contractural arachnodactyly, congenital
|
[NCBI]
|
3.01803e-05
|
|
|
ITGB2
|
[NCBI]
|
2.99165e-05
|
|
|
epidermolysis bullosa letalis
|
[NCBI]
|
2.97818e-05
|
|
|
factor x deficiency
|
[NCBI]
|
2.84702e-05
|
|
|
wolman disease
|
[NCBI]
|
2.84702e-05
|
|
|
MADD
|
[NCBI]
|
2.82654e-05
|
|
|
granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type i
|
[NCBI]
|
2.82654e-05
|
|
|
LAD
|
[NCBI]
|
2.82654e-05
|
|
|
SCDO1
|
[NCBI]
|
2.77941e-05
|
|
|
MEN2B
|
[NCBI]
|
2.77941e-05
|
|
|
OCRL
|
[NCBI]
|
2.73382e-05
|
|
|
glycogen storage disease vii
|
[NCBI]
|
2.73382e-05
|
|
|
graves disease
|
[NCBI]
|
2.73382e-05
|
|
|
factor vii deficiency
|
[NCBI]
|
2.72149e-05
|
|
|
methemoglobinemia due to deficiency of methemoglobin reductase
|
[NCBI]
|
2.68308e-05
|
|
|
mitochondrial complex iv deficiency
|
[NCBI]
|
2.64689e-05
|
|
|
GH1
|
[NCBI]
|
2.61067e-05
|
|
|
FIH
|
[NCBI]
|
2.6054e-05
|
|
|
CF
|
[NCBI]
|
2.58503e-05
|
|
|
ABCD1
|
[NCBI]
|
2.46566e-05
|
|
|
tyrosinemia, type i
|
[NCBI]
|
2.43627e-05
|
|
|
WBS
|
[NCBI]
|
2.42335e-05
|
|
|
ASS
|
[NCBI]
|
2.39387e-05
|
|
|
pyruvate decarboxylase deficiency
|
[NCBI]
|
2.34574e-05
|
|
|
COL1A2
|
[NCBI]
|
2.2772e-05
|
|
|
NEM3
|
[NCBI]
|
2.24825e-05
|
|
|
ichthyosis, x-linked
|
[NCBI]
|
2.21825e-05
|
|
|
DJS
|
[NCBI]
|
2.21729e-05
|
|
|
down syndrome
|
[NCBI]
|
2.18706e-05
|
|
|
kartagener syndrome
|
[NCBI]
|
2.12863e-05
|
|
|
neuraminidase deficiency
|
[NCBI]
|
2.07274e-05
|
|
|
COL1A1
|
[NCBI]
|
2.05176e-05
|
|
|
ED1
|
[NCBI]
|
2.04569e-05
|
|
|
HPRT1
|
[NCBI]
|
2.01453e-05
|
|
|
MTM1
|
[NCBI]
|
1.99328e-05
|
|
|
sotos syndrome
|
[NCBI]
|
1.99328e-05
|
|
|
HHF2
|
[NCBI]
|
1.89462e-05
|
|
|
osteogenesis imperfecta, type iia
|
[NCBI]
|
1.89462e-05
|
|
|
CASR
|
[NCBI]
|
1.8639e-05
|
|
|
RSTS
|
[NCBI]
|
1.8481e-05
|
|
|
maple syrup urine disease
|
[NCBI]
|
1.78151e-05
|
|
|
PTH
|
[NCBI]
|
1.77898e-05
|
|
|
HBA1
|
[NCBI]
|
1.77611e-05
|
|
|
NPS
|
[NCBI]
|
1.69814e-05
|
|
|
LQT1
|
[NCBI]
|
1.67818e-05
|
|
|
ALGS1
|
[NCBI]
|
1.67818e-05
|
|
|
GJB2
|
[NCBI]
|
1.60616e-05
|
|
|
VEGF
|
[NCBI]
|
1.51835e-05
|
|
|
SMA1
|
[NCBI]
|
1.46247e-05
|
|
|
SVAS
|
[NCBI]
|
1.44624e-05
|
|
|
hla-d histocompatibility type
|
[NCBI]
|
1.3525e-05
|
|
|
glycogen storage disease ii
|
[NCBI]
|
1.31026e-05
|
|
|
NS1
|
[NCBI]
|
1.22855e-05
|
|
|
TNF
|
[NCBI]
|
1.20533e-05
|
|
|
PI
|
[NCBI]
|
1.15697e-05
|
|
|
wilson disease
|
[NCBI]
|
1.07169e-05
|
|
|
ACH
|
[NCBI]
|
9.66673e-06
|
|
|
PMD
|
[NCBI]
|
8.55292e-06
|
|
|
ALD
|
[NCBI]
|
7.48633e-06
|
|
|
APOB
|
[NCBI]
|
5.52979e-06
|
|
|
DMD
|
[NCBI]
|
4.97674e-06
|
|
|
MODY
|
[NCBI]
|
3.61033e-06
|
|
|
SLOS
|
[NCBI]
|
3.41582e-06
|
|
|
dystrophia myotonica 1
|
[NCBI]
|
2.91445e-06
|
|
|
NPPA
|
[NCBI]
|
2.70057e-06
|
|
|
VIP
|
[NCBI]
|
2.24328e-06
|
|
|
TG
|
[NCBI]
|
1.75144e-06
|
|
|
PWS
|
[NCBI]
|
1.51505e-06
|
|
|
BDNF
|
[NCBI]
|
1.35711e-06
|
|
|
MG
|
[NCBI]
|
4.06045e-07
|
|
|
polycystic kidneys
|
[NCBI]
|
2.30033e-07
|
|
|
AFP
|
[NCBI]
|
1.13388e-07
|
|
|
AVP
|
[NCBI]
|
9.68106e-08
|
|
|
NGFB
|
[NCBI]
|
9.06691e-08
|
|
|
EPO
|
[NCBI]
|
6.86656e-08
|
|
|
APOE
|
[NCBI]
|
5.14251e-09
|
|