|
OMIM |
Link |
Information gain |
01 |
|
SLE
|
[NCBI]
|
0.00344759
|
|
|
ICP
|
[NCBI]
|
0.00113345
|
|
|
PCA
|
[NCBI]
|
0.00108627
|
|
|
cardiomyopathy, fatal fetal, due to myocardial calcification
|
[NCBI]
|
0.000931665
|
|
|
restless legs syndrome, susceptibility to, 1
|
[NCBI]
|
0.000725662
|
|
|
pena-shokeir syndrome, type i
|
[NCBI]
|
0.000636434
|
|
|
urogenital adysplasia, hereditary
|
[NCBI]
|
0.000600477
|
|
|
telangiectasia, hereditary benign
|
[NCBI]
|
0.000579249
|
|
|
hypertrichotic osteochondrodysplasia
|
[NCBI]
|
0.000460648
|
|
|
sneddon syndrome
|
[NCBI]
|
0.000460648
|
|
|
phenylketonuria
|
[NCBI]
|
0.000450162
|
|
|
AFP
|
[NCBI]
|
0.00044089
|
|
|
OTSC1
|
[NCBI]
|
0.000408926
|
|
|
ACG1A
|
[NCBI]
|
0.000359799
|
|
|
valproate embryopathy, susceptibility to
|
[NCBI]
|
0.000342621
|
|
|
ST8
|
[NCBI]
|
0.00033146
|
|
|
dubowitz syndrome
|
[NCBI]
|
0.000287577
|
|
|
VUR1
|
[NCBI]
|
0.000281437
|
|
|
long-chain 3-hydroxyacyl-coa dehydrogenase deficiency
|
[NCBI]
|
0.000280191
|
|
|
hashimoto thyroiditis
|
[NCBI]
|
0.000275559
|
|
|
coffin-siris syndrome
|
[NCBI]
|
0.000269924
|
|
|
chondrodysplasia punctata, autosomal dominant
|
[NCBI]
|
0.000250341
|
|
|
ovarian hyperstimulation syndrome
|
[NCBI]
|
0.000246096
|
|
|
chondrodysplasia punctata, tibia-metacarpal type
|
[NCBI]
|
0.000238706
|
|
|
CDPX1
|
[NCBI]
|
0.000234227
|
|
|
TFPI2
|
[NCBI]
|
0.00021682
|
|
|
PEE1
|
[NCBI]
|
0.000216152
|
|
|
PCOS1
|
[NCBI]
|
0.000209016
|
|
|
PRL
|
[NCBI]
|
0.000196464
|
|
|
SPS
|
[NCBI]
|
0.000181189
|
|
|
heart block, congenital
|
[NCBI]
|
0.000171212
|
|
|
ABCB4
|
[NCBI]
|
0.000165432
|
|
|
HADHA
|
[NCBI]
|
0.000158768
|
|
|
EKD1
|
[NCBI]
|
0.000143783
|
|
|
apnea, obstructive sleep
|
[NCBI]
|
0.000139238
|
|
|
MG
|
[NCBI]
|
0.000135964
|
|
|
uterine anomalies
|
[NCBI]
|
0.000133184
|
|
|
klippel-trenaunay-weber syndrome
|
[NCBI]
|
0.000127275
|
|
|
carbimazole sensitivity
|
[NCBI]
|
0.000119297
|
|
|
ABCB11
|
[NCBI]
|
0.000103573
|
|
|
PXE
|
[NCBI]
|
8.94332e-05
|
|
|
AMC
|
[NCBI]
|
8.7279e-05
|
|
|
FSHR
|
[NCBI]
|
8.53446e-05
|
|
|
hyperthyroidism, familial gestational
|
[NCBI]
|
8.20036e-05
|
|
|
PUPPP
|
[NCBI]
|
8.20036e-05
|
|
|
RA
|
[NCBI]
|
8.13775e-05
|
|
|
trifunctional protein deficiency
|
[NCBI]
|
7.742e-05
|
|
|
C5R1
|
[NCBI]
|
7.51963e-05
|
|
|
TG
|
[NCBI]
|
7.34902e-05
|
|
|
APC
|
[NCBI]
|
7.22246e-05
|
|
|
ATP8B1
|
[NCBI]
|
6.89034e-05
|
|
|
LPL
|
[NCBI]
|
6.32096e-05
|
|
|
ehlers-danlos syndrome with platelet dysfunction from fibronectin abnormality
|
[NCBI]
|
5.96342e-05
|
|
|
sjogren-larsson-like ichthyosis without cns or eye involvement
|
[NCBI]
|
5.96342e-05
|
|
|
convulsive disorder, familial, with prenatal or early onset
|
[NCBI]
|
5.96342e-05
|
|
|
breasts and nipples, absence of
|
[NCBI]
|
5.96342e-05
|
|
|
SCZD
|
[NCBI]
|
5.81578e-05
|
|
|
KLK3
|
[NCBI]
|
5.5984e-05
|
|
|
diastrophic dysplasia
|
[NCBI]
|
5.22099e-05
|
|
|
CF
|
[NCBI]
|
5.1431e-05
|
|
|
hydrops fetalis, idiopathic
|
[NCBI]
|
5.12553e-05
|
|
|
PFIC3
|
[NCBI]
|
5.12553e-05
|
|
|
PAEP
|
[NCBI]
|
4.87001e-05
|
|
|
PSG3
|
[NCBI]
|
4.74443e-05
|
|
|
HPA-2
|
[NCBI]
|
4.74443e-05
|
|
|
ESX1L
|
[NCBI]
|
4.74443e-05
|
|
|
furlong syndrome: fs
|
[NCBI]
|
4.58502e-05
|
|
|
cardiomyopathy-hypogonadism-collagenoma syndrome
|
[NCBI]
|
4.58502e-05
|
|
|
FIDD
|
[NCBI]
|
4.58502e-05
|
|
|
pierre robin syndrome
|
[NCBI]
|
4.58502e-05
|
|
|
CYP19A1
|
[NCBI]
|
4.53074e-05
|
|
|
TNF
|
[NCBI]
|
4.31791e-05
|
|
|
CHRNG
|
[NCBI]
|
4.22639e-05
|
|
|
TRIM21
|
[NCBI]
|
4.22639e-05
|
|
|
LOXL1
|
[NCBI]
|
4.22639e-05
|
|
|
yellow nail syndrome
|
[NCBI]
|
4.18575e-05
|
|
|
intracranial hypertension, idiopathic
|
[NCBI]
|
4.18575e-05
|
|
|
TPO
|
[NCBI]
|
4.04685e-05
|
|
|
COL3A1
|
[NCBI]
|
3.99735e-05
|
|
|
exostoses, multiple, type i
|
[NCBI]
|
3.92309e-05
|
|
|
GYS2
|
[NCBI]
|
3.89071e-05
|
|
|
STHAG1
|
[NCBI]
|
3.86967e-05
|
|
|
isotretinoin embryopathy-like syndrome
|
[NCBI]
|
3.86967e-05
|
|
|
CRH
|
[NCBI]
|
3.80006e-05
|
|
|
FAAH
|
[NCBI]
|
3.71343e-05
|
|
|
AVP
|
[NCBI]
|
3.67747e-05
|
|
|
ACAT1
|
[NCBI]
|
3.64164e-05
|
|
|
hyperthyroidism, nonautoimmune
|
[NCBI]
|
3.60855e-05
|
|
|
hypertriglyceridemia, familial
|
[NCBI]
|
3.3865e-05
|
|
|
carnitine palmitoyltransferase i deficiency
|
[NCBI]
|
3.3865e-05
|
|
|
alpha-methylacetoacetic aciduria
|
[NCBI]
|
3.19366e-05
|
|
|
hla-d histocompatibility type
|
[NCBI]
|
3.13708e-05
|
|
|
galactosemia
|
[NCBI]
|
3.12428e-05
|
|
|
DM2
|
[NCBI]
|
3.12428e-05
|
|
|
RP
|
[NCBI]
|
3.05296e-05
|
|
|
avascular necrosis of femoral head, primary
|
[NCBI]
|
3.0235e-05
|
|
|
TGFBR1
|
[NCBI]
|
3.01637e-05
|
|
|
CMT1B
|
[NCBI]
|
2.92523e-05
|
|
|
ACADM
|
[NCBI]
|
2.91503e-05
|
|
|
RTN1
|
[NCBI]
|
2.90779e-05
|
|
|
PCNA
|
[NCBI]
|
2.89579e-05
|
|
|
vater association
|
[NCBI]
|
2.87144e-05
|
|
|
HOXA13
|
[NCBI]
|
2.81032e-05
|
|
|
ornithine transcarbamylase deficiency, hyperammonemia due to
|
[NCBI]
|
2.78696e-05
|
|
|
fructose-1,6-bisphosphatase deficiency
|
[NCBI]
|
2.7342e-05
|
|
|
oculocerebrocutaneous syndrome
|
[NCBI]
|
2.7342e-05
|
|
|
FFS
|
[NCBI]
|
2.7342e-05
|
|
|
antiphospholipid syndrome
|
[NCBI]
|
2.7342e-05
|
|
|
MAT1A
|
[NCBI]
|
2.72193e-05
|
|
|
LDHA
|
[NCBI]
|
2.72193e-05
|
|
|
GRA
|
[NCBI]
|
2.65708e-05
|
|
|
GALE
|
[NCBI]
|
2.6411e-05
|
|
|
EGFR
|
[NCBI]
|
2.6263e-05
|
|
|
LDS
|
[NCBI]
|
2.60928e-05
|
|
|
methionine adenosyltransferase deficiency
|
[NCBI]
|
2.60928e-05
|
|
|
homocystinuria
|
[NCBI]
|
2.56624e-05
|
|
|
hand-foot-uterus syndrome
|
[NCBI]
|
2.49478e-05
|
|
|
pituitary dwarfism due to isolated growth hormone deficiency, autosomal dominant
|
[NCBI]
|
2.49478e-05
|
|
|
vitamin k-dependent clotting factors, combined deficiency of, 1
|
[NCBI]
|
2.49478e-05
|
|
|
ACG2
|
[NCBI]
|
2.49478e-05
|
|
|
ABP1
|
[NCBI]
|
2.47037e-05
|
|
|
IHPS1
|
[NCBI]
|
2.38922e-05
|
|
|
pituitary dwarfism i
|
[NCBI]
|
2.38922e-05
|
|
|
orotic aciduria i
|
[NCBI]
|
2.37343e-05
|
|
|
POU1F1
|
[NCBI]
|
2.31702e-05
|
|
|
tyrosine transaminase deficiency
|
[NCBI]
|
2.31702e-05
|
|
|
coenzyme q10 deficiency
|
[NCBI]
|
2.2914e-05
|
|
|
COFS1
|
[NCBI]
|
2.2914e-05
|
|
|
EPD
|
[NCBI]
|
2.2914e-05
|
|
|
MPO
|
[NCBI]
|
2.24365e-05
|
|
|
ALDH2
|
[NCBI]
|
2.21364e-05
|
|
|
BLM
|
[NCBI]
|
2.17397e-05
|
|
|
mulibrey nanism
|
[NCBI]
|
2.11525e-05
|
|
|
EDN1
|
[NCBI]
|
2.07767e-05
|
|
|
HNF1B
|
[NCBI]
|
2.07767e-05
|
|
|
TERC
|
[NCBI]
|
2.07767e-05
|
|
|
MDD
|
[NCBI]
|
2.07492e-05
|
|
|
MFS
|
[NCBI]
|
2.07143e-05
|
|
|
ACADS
|
[NCBI]
|
2.03654e-05
|
|
|
OMP
|
[NCBI]
|
2.03654e-05
|
|
|
HIF1A
|
[NCBI]
|
2.03654e-05
|
|
|
MCPH1
|
[NCBI]
|
2.03547e-05
|
|
|
hartnup disorder
|
[NCBI]
|
1.96044e-05
|
|
|
TGFBR2
|
[NCBI]
|
1.95955e-05
|
|
|
ENPEP
|
[NCBI]
|
1.92341e-05
|
|
|
propionic acidemia
|
[NCBI]
|
1.88968e-05
|
|
|
EPHX1
|
[NCBI]
|
1.88869e-05
|
|
|
EGF
|
[NCBI]
|
1.82804e-05
|
|
|
COL17A1
|
[NCBI]
|
1.79207e-05
|
|
|
DDC
|
[NCBI]
|
1.7621e-05
|
|
|
HRG
|
[NCBI]
|
1.7621e-05
|
|
|
SHBG
|
[NCBI]
|
1.76164e-05
|
|
|
AGT
|
[NCBI]
|
1.70512e-05
|
|
|
PROCR
|
[NCBI]
|
1.65168e-05
|
|
|
PPS
|
[NCBI]
|
1.64199e-05
|
|
|
methylmalonic aciduria due to methylmalonyl-coa mutase deficiency
|
[NCBI]
|
1.64199e-05
|
|
|
LOX
|
[NCBI]
|
1.62617e-05
|
|
|
PRLR
|
[NCBI]
|
1.62617e-05
|
|
|
fructose intolerance, hereditary
|
[NCBI]
|
1.60141e-05
|
|
|
coproporphyria
|
[NCBI]
|
1.57735e-05
|
|
|
CEACAM5
|
[NCBI]
|
1.57323e-05
|
|
|
NS1
|
[NCBI]
|
1.56693e-05
|
|
|
histidinemia
|
[NCBI]
|
1.53542e-05
|
|
|
adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency
|
[NCBI]
|
1.518e-05
|
|
|
DRD
|
[NCBI]
|
1.4857e-05
|
|
|
AR
|
[NCBI]
|
1.47828e-05
|
|
|
diabetes insipidus, nephrogenic, x-linked
|
[NCBI]
|
1.43812e-05
|
|
|
MMP2
|
[NCBI]
|
1.42602e-05
|
|
|
G6PD
|
[NCBI]
|
1.41639e-05
|
|
|
THRB
|
[NCBI]
|
1.38746e-05
|
|
|
MKKS
|
[NCBI]
|
1.34882e-05
|
|
|
CPI
|
[NCBI]
|
1.34614e-05
|
|
|
CP
|
[NCBI]
|
1.34311e-05
|
|
|
autonomic control, congenital failure of
|
[NCBI]
|
1.30684e-05
|
|
|
fraser syndrome
|
[NCBI]
|
1.30684e-05
|
|
|
PWS
|
[NCBI]
|
1.29367e-05
|
|
|
wilson disease
|
[NCBI]
|
1.2933e-05
|
|
|
LIPC
|
[NCBI]
|
1.28185e-05
|
|
|
mucopolysaccharidosis type vi
|
[NCBI]
|
1.2277e-05
|
|
|
glycogen storage disease i
|
[NCBI]
|
1.20356e-05
|
|
|
TSHR
|
[NCBI]
|
1.20356e-05
|
|
|
glycogen storage disease iii
|
[NCBI]
|
1.19034e-05
|
|
|
HCH
|
[NCBI]
|
1.19034e-05
|
|
|
ALD
|
[NCBI]
|
1.16496e-05
|
|
|
RNASE2
|
[NCBI]
|
1.16016e-05
|
|
|
MDLS
|
[NCBI]
|
1.15435e-05
|
|
|
FIH
|
[NCBI]
|
1.11964e-05
|
|
|
vitamin d-dependent rickets, type ii
|
[NCBI]
|
1.11964e-05
|
|
|
CDPX2
|
[NCBI]
|
1.11964e-05
|
|
|
testicular tumors
|
[NCBI]
|
1.11964e-05
|
|
|
apert syndrome
|
[NCBI]
|
1.11964e-05
|
|
|
MTR
|
[NCBI]
|
1.11913e-05
|
|
|
MAS
|
[NCBI]
|
1.11438e-05
|
|
|
ACH
|
[NCBI]
|
1.11438e-05
|
|
|
DBA
|
[NCBI]
|
1.09779e-05
|
|
|
SRY
|
[NCBI]
|
1.09299e-05
|
|
|
CADASIL
|
[NCBI]
|
1.08615e-05
|
|
|
ehlers-danlos syndrome, type i
|
[NCBI]
|
1.08615e-05
|
|
|
HGF
|
[NCBI]
|
1.06839e-05
|
|
|
cortisol 11-beta-ketoreductase deficiency
|
[NCBI]
|
1.06774e-05
|
|
|
ehlers-danlos syndrome, type iv, autosomal dominant
|
[NCBI]
|
1.05382e-05
|
|
|
STL1
|
[NCBI]
|
1.05382e-05
|
|
|
panencephalitis, subacute sclerosing
|
[NCBI]
|
9.80096e-06
|
|
|
factor v deficiency
|
[NCBI]
|
9.74789e-06
|
|
|
HHC1
|
[NCBI]
|
9.63162e-06
|
|
|
dystrophia myotonica 1
|
[NCBI]
|
9.59347e-06
|
|
|
IGFALS
|
[NCBI]
|
9.42869e-06
|
|
|
obesity
|
[NCBI]
|
9.34891e-06
|
|
|
GNAS
|
[NCBI]
|
9.22382e-06
|
|
|
HSAN3
|
[NCBI]
|
8.06227e-06
|
|
|
PTH
|
[NCBI]
|
8.01638e-06
|
|
|
antithrombin iii deficiency
|
[NCBI]
|
7.77895e-06
|
|
|
ABCG2
|
[NCBI]
|
7.69858e-06
|
|
|
ADHD
|
[NCBI]
|
7.60027e-06
|
|
|
SERPINA6
|
[NCBI]
|
7.38713e-06
|
|
|
TH
|
[NCBI]
|
7.2017e-06
|
|
|
neuroblastoma
|
[NCBI]
|
6.95631e-06
|
|
|
CTNS
|
[NCBI]
|
6.75373e-06
|
|
|
CVID
|
[NCBI]
|
6.5608e-06
|
|
|
COMT
|
[NCBI]
|
6.49047e-06
|
|
|
F3
|
[NCBI]
|
6.29667e-06
|
|
|
GHR
|
[NCBI]
|
6.09696e-06
|
|
|
CCM
|
[NCBI]
|
5.99809e-06
|
|
|
HHF2
|
[NCBI]
|
5.65043e-06
|
|
|
HAE
|
[NCBI]
|
5.65043e-06
|
|
|
TFPI
|
[NCBI]
|
5.60423e-06
|
|
|
ABL
|
[NCBI]
|
5.48356e-06
|
|
|
maple syrup urine disease
|
[NCBI]
|
4.85896e-06
|
|
|
NPS
|
[NCBI]
|
4.29685e-06
|
|
|
CAT
|
[NCBI]
|
4.20738e-06
|
|
|
DGS
|
[NCBI]
|
4.11562e-06
|
|
|
CD
|
[NCBI]
|
3.48174e-06
|
|
|
LPI
|
[NCBI]
|
3.33286e-06
|
|
|
MBP
|
[NCBI]
|
3.2217e-06
|
|
|
VIP
|
[NCBI]
|
3.153e-06
|
|
|
TD1
|
[NCBI]
|
3.12116e-06
|
|
|
NPY
|
[NCBI]
|
3.04228e-06
|
|
|
SLS
|
[NCBI]
|
2.91999e-06
|
|
|
SVAS
|
[NCBI]
|
2.72883e-06
|
|
|
NPPA
|
[NCBI]
|
2.37237e-06
|
|
|
GHRH
|
[NCBI]
|
2.21129e-06
|
|
|
MEN2A
|
[NCBI]
|
2.21082e-06
|
|
|
RNASE3
|
[NCBI]
|
2.19818e-06
|
|
|
FGFR3
|
[NCBI]
|
2.07328e-06
|
|
|
FMF
|
[NCBI]
|
1.90215e-06
|
|
|
MBL2
|
[NCBI]
|
1.83782e-06
|
|
|
VEGF
|
[NCBI]
|
1.76452e-06
|
|
|
APOE
|
[NCBI]
|
1.75903e-06
|
|
|
AHO
|
[NCBI]
|
1.44851e-06
|
|
|
EPO
|
[NCBI]
|
1.41674e-06
|
|
|
polycystic kidneys
|
[NCBI]
|
9.73228e-07
|
|
|
CCK
|
[NCBI]
|
9.41969e-07
|
|
|
SLC6A3
|
[NCBI]
|
6.50184e-07
|
|
|
CDLS1
|
[NCBI]
|
6.4879e-07
|
|
|
FRDA
|
[NCBI]
|
6.4879e-07
|
|
|
thrombocytopenic purpura, autoimmune
|
[NCBI]
|
5.84104e-07
|
|
|
WBS
|
[NCBI]
|
4.91074e-07
|
|
|
CHAT
|
[NCBI]
|
4.7647e-07
|
|
|
TS
|
[NCBI]
|
3.58892e-07
|
|
|
LAM
|
[NCBI]
|
2.60335e-07
|
|
|
TTR
|
[NCBI]
|
2.35483e-07
|
|
|
APOB
|
[NCBI]
|
1.75179e-07
|
|
|
PPARA
|
[NCBI]
|
1.5461e-07
|
|
|
IP
|
[NCBI]
|
1.48268e-07
|
|
|
HSCR1
|
[NCBI]
|
1.48268e-07
|
|
|
ACHE
|
[NCBI]
|
1.2872e-07
|
|
|
PCD
|
[NCBI]
|
5.10768e-08
|
|
|
PTHLH
|
[NCBI]
|
2.45462e-08
|
|
|
BWS
|
[NCBI]
|
4.52271e-11
|
|