|
OMIM |
Link |
Information gain |
01 |
|
varadi-papp syndrome
|
[NCBI]
|
0.00175129
|
|
|
marden-walker syndrome
|
[NCBI]
|
0.000961115
|
|
|
MAFD6
|
[NCBI]
|
0.000796768
|
|
|
kaufman oculocerebrofacial syndrome
|
[NCBI]
|
0.000667984
|
|
|
SPG9
|
[NCBI]
|
0.000667984
|
|
|
adducted thumb-clubfoot syndrome
|
[NCBI]
|
0.000614885
|
|
|
VDEGS
|
[NCBI]
|
0.000575485
|
|
|
ichthyosis follicularis, atrichia, and photophobia syndrome
|
[NCBI]
|
0.000518153
|
|
|
arima syndrome
|
[NCBI]
|
0.000495941
|
|
|
kohlschutter-tonz syndrome
|
[NCBI]
|
0.000495941
|
|
|
aniridia, cerebellar ataxia, and mental deficiency
|
[NCBI]
|
0.000476563
|
|
|
spinocerebellar ataxia 29
|
[NCBI]
|
0.000459383
|
|
|
progeroid syndrome, neonatal
|
[NCBI]
|
0.000417183
|
|
|
mohr syndrome
|
[NCBI]
|
0.000405403
|
|
|
dubowitz syndrome
|
[NCBI]
|
0.000321494
|
|
|
JBTS1
|
[NCBI]
|
0.000303582
|
|
|
MBS
|
[NCBI]
|
0.000273451
|
|
|
LS
|
[NCBI]
|
0.000270715
|
|
|
SLC16A2
|
[NCBI]
|
0.000240757
|
|
|
SLE
|
[NCBI]
|
0.000228945
|
|
|
mucolipidosis iv
|
[NCBI]
|
0.000224259
|
|
|
WHS
|
[NCBI]
|
0.000212229
|
|
|
aniridia, partial, with unilateral renal agenesis and psychomotor retardation
|
[NCBI]
|
0.00020927
|
|
|
kabuki syndrome
|
[NCBI]
|
0.000201956
|
|
|
hyperglycerolemia
|
[NCBI]
|
0.000160156
|
|
|
sialuria, finnish type
|
[NCBI]
|
0.000158378
|
|
|
phosphoglycerate dehydrogenase deficiency
|
[NCBI]
|
0.000154796
|
|
|
congenital disorder of glycosylation, type i/iix
|
[NCBI]
|
0.000141508
|
|
|
CDG1A
|
[NCBI]
|
0.000132286
|
|
|
ablepharon-macrostomia syndrome
|
[NCBI]
|
0.000132165
|
|
|
ADSL
|
[NCBI]
|
0.000114151
|
|
|
MCOPS3
|
[NCBI]
|
0.000109832
|
|
|
CFTD
|
[NCBI]
|
0.000109832
|
|
|
MDD
|
[NCBI]
|
0.000105697
|
|
|
cortical blindness, retardation, and postaxial polydactyly
|
[NCBI]
|
0.000104577
|
|
|
facial abnormalities, kyphoscoliosis, and mental retardation
|
[NCBI]
|
0.000104577
|
|
|
cephalocele, atretic
|
[NCBI]
|
0.000104577
|
|
|
megarbane syndrome
|
[NCBI]
|
0.000104577
|
|
|
pancreatic insufficiency, combined exocrine
|
[NCBI]
|
0.000104577
|
|
|
macdermot-winter syndrome
|
[NCBI]
|
0.000104577
|
|
|
adrenomyodystrophy
|
[NCBI]
|
0.000104577
|
|
|
PMSE
|
[NCBI]
|
0.000104577
|
|
|
marfanoid mental retardation syndrome, autosomal
|
[NCBI]
|
0.000104577
|
|
|
wolff mental retardation syndrome
|
[NCBI]
|
0.000104577
|
|
|
ACLS
|
[NCBI]
|
9.55781e-05
|
|
|
RIEG1
|
[NCBI]
|
9.31324e-05
|
|
|
MSS
|
[NCBI]
|
8.87529e-05
|
|
|
laryngeal abductor paralysis
|
[NCBI]
|
8.21298e-05
|
|
|
ASTN
|
[NCBI]
|
8.06454e-05
|
|
|
GUK1
|
[NCBI]
|
8.06454e-05
|
|
|
apnea, obstructive sleep
|
[NCBI]
|
7.95451e-05
|
|
|
TRPS2
|
[NCBI]
|
7.91835e-05
|
|
|
pyruvate decarboxylase deficiency
|
[NCBI]
|
7.84458e-05
|
|
|
PC
|
[NCBI]
|
7.7013e-05
|
|
|
AS
|
[NCBI]
|
7.65773e-05
|
|
|
microcephaly, corpus callosum dysgenesis, and cleft lip/palate
|
[NCBI]
|
7.36732e-05
|
|
|
anauxetic dysplasia
|
[NCBI]
|
7.36732e-05
|
|
|
osteopetrosis and infantile neuroaxonal dystrophy
|
[NCBI]
|
7.36732e-05
|
|
|
sotos syndrome
|
[NCBI]
|
7.0769e-05
|
|
|
insulin-like growth factor i deficiency
|
[NCBI]
|
6.81904e-05
|
|
|
FHL4
|
[NCBI]
|
6.81904e-05
|
|
|
CLN10
|
[NCBI]
|
6.81904e-05
|
|
|
PRTS
|
[NCBI]
|
6.81904e-05
|
|
|
CAMT
|
[NCBI]
|
6.81904e-05
|
|
|
CDG1G
|
[NCBI]
|
6.81904e-05
|
|
|
axenfeld-rieger anomaly with partially absent eye muscles, distinctive face, hydrocephaly, and skeletal abnormalities
|
[NCBI]
|
6.81904e-05
|
|
|
gurrieri syndrome
|
[NCBI]
|
6.81904e-05
|
|
|
ste20-related adaptor protein
|
[NCBI]
|
6.68676e-05
|
|
|
MAP3K3
|
[NCBI]
|
6.68676e-05
|
|
|
papilloma of choroid plexus
|
[NCBI]
|
6.41199e-05
|
|
|
OPTB2
|
[NCBI]
|
6.41199e-05
|
|
|
barber-say syndrome
|
[NCBI]
|
6.41199e-05
|
|
|
glutathione synthetase deficiency of erythrocytes, hemolytic anemia due to
|
[NCBI]
|
6.41199e-05
|
|
|
iris coloboma with ptosis, hypertelorism, and mental retardation
|
[NCBI]
|
6.41199e-05
|
|
|
PWS
|
[NCBI]
|
6.17194e-05
|
|
|
STX11
|
[NCBI]
|
5.82942e-05
|
|
|
ALG12
|
[NCBI]
|
5.82942e-05
|
|
|
monosomy 1p36 syndrome
|
[NCBI]
|
5.81925e-05
|
|
|
lactic acidosis, fatal infantile
|
[NCBI]
|
5.58943e-05
|
|
|
adenylosuccinase deficiency
|
[NCBI]
|
5.58943e-05
|
|
|
ITPA
|
[NCBI]
|
5.57854e-05
|
|
|
corpus callosum, agenesis of
|
[NCBI]
|
5.38882e-05
|
|
|
CDG2A
|
[NCBI]
|
5.38882e-05
|
|
|
SKI
|
[NCBI]
|
5.21252e-05
|
|
|
AUH
|
[NCBI]
|
5.21252e-05
|
|
|
ASMD
|
[NCBI]
|
5.21088e-05
|
|
|
CDG1B
|
[NCBI]
|
5.21088e-05
|
|
|
glutathione synthetase deficiency
|
[NCBI]
|
5.21088e-05
|
|
|
SMS
|
[NCBI]
|
5.10713e-05
|
|
|
LDHB
|
[NCBI]
|
5.07031e-05
|
|
|
KCS
|
[NCBI]
|
5.05105e-05
|
|
|
DYRK1A
|
[NCBI]
|
4.94602e-05
|
|
|
oculocerebrocutaneous syndrome
|
[NCBI]
|
4.90603e-05
|
|
|
encephalopathy, neonatal severe, due to mecp2 mutations
|
[NCBI]
|
4.90603e-05
|
|
|
chromosome 18q deletion syndrome
|
[NCBI]
|
4.90603e-05
|
|
|
RMRP
|
[NCBI]
|
4.83564e-05
|
|
|
FGD1
|
[NCBI]
|
4.83564e-05
|
|
|
ACCPN
|
[NCBI]
|
4.77334e-05
|
|
|
sialuria
|
[NCBI]
|
4.77334e-05
|
|
|
WZS
|
[NCBI]
|
4.77334e-05
|
|
|
PBT
|
[NCBI]
|
4.77334e-05
|
|
|
congenital cataracts, facial dysmorphism, and neuropathy
|
[NCBI]
|
4.77334e-05
|
|
|
cri-du-chat syndrome
|
[NCBI]
|
4.77334e-05
|
|
|
3-@methylglutaconic aciduria, type i
|
[NCBI]
|
4.77334e-05
|
|
|
myoclonic epilepsy, neonatal, with suppression-burst pattern
|
[NCBI]
|
4.65107e-05
|
|
|
RAI1
|
[NCBI]
|
4.64616e-05
|
|
|
CTSD
|
[NCBI]
|
4.48727e-05
|
|
|
SLC17A5
|
[NCBI]
|
4.48727e-05
|
|
|
CDG2C
|
[NCBI]
|
4.43214e-05
|
|
|
paget disease, juvenile
|
[NCBI]
|
4.43214e-05
|
|
|
LTC4S
|
[NCBI]
|
4.4165e-05
|
|
|
SOX2
|
[NCBI]
|
4.35047e-05
|
|
|
alpers diffuse degeneration of cerebral gray matter with hepatic cirrhosis
|
[NCBI]
|
4.33331e-05
|
|
|
glucose transport defect, blood-brain barrier
|
[NCBI]
|
4.33331e-05
|
|
|
AHDS
|
[NCBI]
|
4.24045e-05
|
|
|
G6PT1
|
[NCBI]
|
4.23038e-05
|
|
|
JBS
|
[NCBI]
|
4.1529e-05
|
|
|
alexander disease
|
[NCBI]
|
4.07009e-05
|
|
|
hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
|
[NCBI]
|
3.99156e-05
|
|
|
SPCH1
|
[NCBI]
|
3.91689e-05
|
|
|
ARSB
|
[NCBI]
|
3.8979e-05
|
|
|
SLSN1
|
[NCBI]
|
3.84573e-05
|
|
|
argininemia
|
[NCBI]
|
3.84573e-05
|
|
|
JBS
|
[NCBI]
|
3.77778e-05
|
|
|
ARX
|
[NCBI]
|
3.74873e-05
|
|
|
lipoid proteinosis of urbach and wiethe
|
[NCBI]
|
3.71277e-05
|
|
|
aspartylglucosaminuria
|
[NCBI]
|
3.68189e-05
|
|
|
IGF1
|
[NCBI]
|
3.61934e-05
|
|
|
infantile sialic acid storage disorder
|
[NCBI]
|
3.59065e-05
|
|
|
PDHA1
|
[NCBI]
|
3.5895e-05
|
|
|
GCE
|
[NCBI]
|
3.53315e-05
|
|
|
ATRX
|
[NCBI]
|
3.47779e-05
|
|
|
ESD
|
[NCBI]
|
3.45268e-05
|
|
|
ATRX
|
[NCBI]
|
3.42748e-05
|
|
|
leiomyomatosis and renal cell cancer, hereditary
|
[NCBI]
|
3.37295e-05
|
|
|
faciogenital dysplasia
|
[NCBI]
|
3.37295e-05
|
|
|
AHC
|
[NCBI]
|
3.3232e-05
|
|
|
MSD
|
[NCBI]
|
3.22851e-05
|
|
|
SMA3
|
[NCBI]
|
3.13961e-05
|
|
|
mitochondrial complex iv deficiency
|
[NCBI]
|
3.13961e-05
|
|
|
COH1
|
[NCBI]
|
2.86572e-05
|
|
|
GCPS
|
[NCBI]
|
2.79628e-05
|
|
|
MTTL1
|
[NCBI]
|
2.73181e-05
|
|
|
down syndrome
|
[NCBI]
|
2.66695e-05
|
|
|
CES
|
[NCBI]
|
2.57732e-05
|
|
|
mucolipidosis ii
|
[NCBI]
|
2.46627e-05
|
|
|
HHF2
|
[NCBI]
|
2.36367e-05
|
|
|
LKS
|
[NCBI]
|
2.3392e-05
|
|
|
MECP2
|
[NCBI]
|
2.28106e-05
|
|
|
ADCYAP1
|
[NCBI]
|
2.25177e-05
|
|
|
ND
|
[NCBI]
|
2.1796e-05
|
|
|
metachromatic leukodystrophy
|
[NCBI]
|
2.01846e-05
|
|
|
menkes disease
|
[NCBI]
|
1.82607e-05
|
|
|
SDS
|
[NCBI]
|
1.76301e-05
|
|
|
HP
|
[NCBI]
|
1.44905e-05
|
|
|
CDLS1
|
[NCBI]
|
1.42005e-05
|
|
|
SHH
|
[NCBI]
|
1.40702e-05
|
|
|
GAPDH
|
[NCBI]
|
1.40702e-05
|
|
|
ACH
|
[NCBI]
|
1.37555e-05
|
|
|
FRAP1
|
[NCBI]
|
1.25346e-05
|
|
|
HSCR1
|
[NCBI]
|
1.21433e-05
|
|
|
DRPLA
|
[NCBI]
|
1.06752e-05
|
|
|
APOB
|
[NCBI]
|
9.38561e-06
|
|
|
GFAP
|
[NCBI]
|
8.9643e-06
|
|
|
DMD
|
[NCBI]
|
8.42384e-06
|
|
|
FTD
|
[NCBI]
|
6.98469e-06
|
|
|
SLOS
|
[NCBI]
|
6.51723e-06
|
|
|
ADA
|
[NCBI]
|
6.50876e-06
|
|
|
RTT
|
[NCBI]
|
5.21704e-06
|
|
|
MJD
|
[NCBI]
|
4.83843e-06
|
|
|
ALD
|
[NCBI]
|
1.11176e-06
|
|
|
PD
|
[NCBI]
|
7.89713e-07
|
|
|
EPO
|
[NCBI]
|
6.40414e-07
|
|
|
NGFB
|
[NCBI]
|
5.88347e-07
|
|
|
AFP
|
[NCBI]
|
5.42825e-07
|
|
|
AD
|
[NCBI]
|
1.06209e-07
|
|