|
OMIM |
Link |
Information gain |
01 |
|
peho syndrome
|
[NCBI]
|
0.00112359
|
|
|
megalocornea-mental retardation syndrome
|
[NCBI]
|
0.000964146
|
|
|
ethanolaminosis
|
[NCBI]
|
0.000887234
|
|
|
CFTD2
|
[NCBI]
|
0.000887234
|
|
|
FGS4
|
[NCBI]
|
0.000887234
|
|
|
dandy-walker-like malformation with atrioventricular septal defect
|
[NCBI]
|
0.000766732
|
|
|
JBTS1
|
[NCBI]
|
0.000671768
|
|
|
spastic diplegia, infantile type
|
[NCBI]
|
0.000669824
|
|
|
adducted thumbs syndrome
|
[NCBI]
|
0.000588105
|
|
|
FGS2
|
[NCBI]
|
0.000588105
|
|
|
COH1
|
[NCBI]
|
0.000560699
|
|
|
muscular dystrophy, congenital, merosin-positive
|
[NCBI]
|
0.00053523
|
|
|
OKS
|
[NCBI]
|
0.000533621
|
|
|
carnosinemia
|
[NCBI]
|
0.000496053
|
|
|
bulbar palsy, progressive, with sensorineural deafness
|
[NCBI]
|
0.000496053
|
|
|
opsismodysplasia
|
[NCBI]
|
0.000496053
|
|
|
auriculocondylar syndrome
|
[NCBI]
|
0.000496053
|
|
|
cutis laxa, corneal clouding, and mental retardation
|
[NCBI]
|
0.000464945
|
|
|
MTM1
|
[NCBI]
|
0.000444111
|
|
|
MEAX
|
[NCBI]
|
0.000439168
|
|
|
corpus callosum, agenesis of, with facial anomalies and robin sequence
|
[NCBI]
|
0.000439168
|
|
|
MCOPS6
|
[NCBI]
|
0.000439168
|
|
|
cataract and cardiomyopathy
|
[NCBI]
|
0.00041718
|
|
|
RA
|
[NCBI]
|
0.000400694
|
|
|
carnitine deficiency, myopathic
|
[NCBI]
|
0.000398025
|
|
|
aniridia, cerebellar ataxia, and mental deficiency
|
[NCBI]
|
0.000398025
|
|
|
PCA
|
[NCBI]
|
0.000381069
|
|
|
PWS
|
[NCBI]
|
0.000303561
|
|
|
CGF
|
[NCBI]
|
0.000289369
|
|
|
marden-walker syndrome
|
[NCBI]
|
0.000289369
|
|
|
SLE
|
[NCBI]
|
0.000286239
|
|
|
MTM1
|
[NCBI]
|
0.000264428
|
|
|
CFTD
|
[NCBI]
|
0.000256756
|
|
|
FRNS
|
[NCBI]
|
0.000213862
|
|
|
hydronephrosis, congenital, with cleft palate, characteristic facies, hypotonia, and mental retardation
|
[NCBI]
|
0.000203166
|
|
|
MEB
|
[NCBI]
|
0.000200464
|
|
|
NEM3
|
[NCBI]
|
0.000186255
|
|
|
myotubular myopathy with abnormal genital development
|
[NCBI]
|
0.000172242
|
|
|
AOS
|
[NCBI]
|
0.000170098
|
|
|
nevo syndrome
|
[NCBI]
|
0.000158282
|
|
|
MTMR3
|
[NCBI]
|
0.000156628
|
|
|
kabuki syndrome
|
[NCBI]
|
0.000133505
|
|
|
JBTS3
|
[NCBI]
|
0.000130423
|
|
|
MTMR1
|
[NCBI]
|
0.000123188
|
|
|
ACCPN
|
[NCBI]
|
0.000113028
|
|
|
EKD1
|
[NCBI]
|
0.000108322
|
|
|
coenzyme q10 deficiency
|
[NCBI]
|
0.000105872
|
|
|
MTMR2
|
[NCBI]
|
0.000104815
|
|
|
neuropathy, congenital hypomyelinating
|
[NCBI]
|
0.000103807
|
|
|
choreoathetosis, familial inverted
|
[NCBI]
|
0.000101535
|
|
|
muscular hypoplasia, congenital universal, of krabbe
|
[NCBI]
|
0.000101535
|
|
|
mitochondrial phosphate carrier deficiency
|
[NCBI]
|
0.000101535
|
|
|
CDG1L
|
[NCBI]
|
0.000101535
|
|
|
uruguay faciocardiomusculoskeletal syndrome
|
[NCBI]
|
0.000101535
|
|
|
hair whorl
|
[NCBI]
|
0.000101535
|
|
|
adrenomyodystrophy
|
[NCBI]
|
0.000101535
|
|
|
trigonobrachycephaly, bulbous bifid nose, micrognathia, and abnormalities of the hands and feet
|
[NCBI]
|
0.000101535
|
|
|
german syndrome
|
[NCBI]
|
0.000101535
|
|
|
midface hypoplasia, obesity, developmental delay, and neonatal hypotonia
|
[NCBI]
|
0.000101535
|
|
|
growth retardation, small and puffy hands and feet, and eczema
|
[NCBI]
|
0.000101535
|
|
|
radioulnar synostosis, unilateral, with developmental retardation and hypotonia
|
[NCBI]
|
0.000101535
|
|
|
SLC16A2
|
[NCBI]
|
9.95963e-05
|
|
|
BFLS
|
[NCBI]
|
9.83216e-05
|
|
|
PLOD1
|
[NCBI]
|
8.91574e-05
|
|
|
biotinidase deficiency
|
[NCBI]
|
8.71664e-05
|
|
|
MADD
|
[NCBI]
|
8.28081e-05
|
|
|
GAMT
|
[NCBI]
|
8.2369e-05
|
|
|
ZS
|
[NCBI]
|
8.10423e-05
|
|
|
SGBS1
|
[NCBI]
|
8.08418e-05
|
|
|
mental retardation, x-linked, with brachydactyly and macroglossia
|
[NCBI]
|
7.90933e-05
|
|
|
creases, infra-auricular cutaneous, with tall stature and advanced bone age
|
[NCBI]
|
7.90933e-05
|
|
|
hyper-beta-alaninemia
|
[NCBI]
|
7.90933e-05
|
|
|
puerto rican infant hypotonia syndrome
|
[NCBI]
|
7.90933e-05
|
|
|
PDSS2
|
[NCBI]
|
7.82236e-05
|
|
|
DNM1L
|
[NCBI]
|
7.82236e-05
|
|
|
MTMR4
|
[NCBI]
|
7.82236e-05
|
|
|
MTMR7
|
[NCBI]
|
7.82236e-05
|
|
|
MTMR6
|
[NCBI]
|
7.82236e-05
|
|
|
PEX11B
|
[NCBI]
|
7.82236e-05
|
|
|
pyruvate decarboxylase deficiency
|
[NCBI]
|
7.25645e-05
|
|
|
JBTS5
|
[NCBI]
|
7.06419e-05
|
|
|
hypotonia-cystinuria syndrome
|
[NCBI]
|
7.06419e-05
|
|
|
myasthenia, limb-girdle, autoimmune
|
[NCBI]
|
7.06419e-05
|
|
|
ARTS
|
[NCBI]
|
7.06419e-05
|
|
|
carbimazole sensitivity
|
[NCBI]
|
6.51644e-05
|
|
|
sotos syndrome
|
[NCBI]
|
6.49512e-05
|
|
|
SBF1
|
[NCBI]
|
6.44466e-05
|
|
|
SLC25A3
|
[NCBI]
|
6.44466e-05
|
|
|
FCMD
|
[NCBI]
|
6.43976e-05
|
|
|
MPZ
|
[NCBI]
|
6.18337e-05
|
|
|
3-@methylcrotonyl-coa carboxylase 2 deficiency
|
[NCBI]
|
6.10993e-05
|
|
|
myasthenia, limb-girdle, familial
|
[NCBI]
|
6.10993e-05
|
|
|
PTHS
|
[NCBI]
|
6.10993e-05
|
|
|
MCCC2
|
[NCBI]
|
5.92489e-05
|
|
|
PREPL
|
[NCBI]
|
5.92489e-05
|
|
|
ALG9
|
[NCBI]
|
5.92489e-05
|
|
|
phosphorylase kinase deficiency of liver and muscle, autosomal recessive
|
[NCBI]
|
5.7866e-05
|
|
|
segawa syndrome, autosomal recessive
|
[NCBI]
|
5.7866e-05
|
|
|
MRXSL
|
[NCBI]
|
5.7866e-05
|
|
|
fumarase deficiency
|
[NCBI]
|
5.7866e-05
|
|
|
mevalonic aciduria
|
[NCBI]
|
5.7866e-05
|
|
|
aromatic l-amino acid decarboxylase deficiency
|
[NCBI]
|
5.7866e-05
|
|
|
CXORF6
|
[NCBI]
|
5.58748e-05
|
|
|
SIX6
|
[NCBI]
|
5.58748e-05
|
|
|
CUL4B
|
[NCBI]
|
5.58748e-05
|
|
|
goldberg-shprintzen megacolon syndrome
|
[NCBI]
|
5.51824e-05
|
|
|
myopathy, centronuclear, autosomal recessive
|
[NCBI]
|
5.51824e-05
|
|
|
gtp cyclohydrolase i deficiency
|
[NCBI]
|
5.51824e-05
|
|
|
marshall-smith syndrome
|
[NCBI]
|
5.51824e-05
|
|
|
acyl-coa dehydrogenase, long-chain, deficiency of
|
[NCBI]
|
5.51824e-05
|
|
|
MED12
|
[NCBI]
|
5.33669e-05
|
|
|
ATP10A
|
[NCBI]
|
5.33669e-05
|
|
|
creatine deficiency syndrome, x-linked
|
[NCBI]
|
5.28895e-05
|
|
|
hyperpipecolatemia
|
[NCBI]
|
5.28895e-05
|
|
|
WARBM
|
[NCBI]
|
5.28895e-05
|
|
|
elejalde disease
|
[NCBI]
|
5.28895e-05
|
|
|
LSFC
|
[NCBI]
|
5.28895e-05
|
|
|
VLDLRCH
|
[NCBI]
|
5.08886e-05
|
|
|
chromosome 17q21.31 microdeletion syndrome
|
[NCBI]
|
4.97082e-05
|
|
|
MLYCD
|
[NCBI]
|
4.97082e-05
|
|
|
myopathy, myosin storage
|
[NCBI]
|
4.91145e-05
|
|
|
acyl-coa dehydrogenase, short-chain, deficiency of
|
[NCBI]
|
4.91145e-05
|
|
|
WNT1
|
[NCBI]
|
4.8287e-05
|
|
|
AHI1
|
[NCBI]
|
4.8287e-05
|
|
|
PRPS1
|
[NCBI]
|
4.8287e-05
|
|
|
d-2-@hydroxyglutaric aciduria
|
[NCBI]
|
4.75216e-05
|
|
|
PEX12
|
[NCBI]
|
4.7045e-05
|
|
|
POMGNT1
|
[NCBI]
|
4.7045e-05
|
|
|
trifunctional protein deficiency
|
[NCBI]
|
4.60767e-05
|
|
|
encephalopathy, neonatal severe, due to mecp2 mutations
|
[NCBI]
|
4.60767e-05
|
|
|
chromosome 22q13.3 deletion syndrome
|
[NCBI]
|
4.60767e-05
|
|
|
ATRN
|
[NCBI]
|
4.59419e-05
|
|
|
GBE1
|
[NCBI]
|
4.59419e-05
|
|
|
3-@methylcrotonyl-coa carboxylase 1 deficiency
|
[NCBI]
|
4.4755e-05
|
|
|
mitochondrial dna depletion syndrome, myopathic form
|
[NCBI]
|
4.35377e-05
|
|
|
LAMA2
|
[NCBI]
|
4.24615e-05
|
|
|
c syndrome
|
[NCBI]
|
4.24096e-05
|
|
|
stuve-wiedemann syndrome
|
[NCBI]
|
4.24096e-05
|
|
|
LTC4S
|
[NCBI]
|
4.17546e-05
|
|
|
HADHA
|
[NCBI]
|
4.17546e-05
|
|
|
SLC6A8
|
[NCBI]
|
4.17546e-05
|
|
|
ACH
|
[NCBI]
|
4.1649e-05
|
|
|
NFNS
|
[NCBI]
|
4.13589e-05
|
|
|
mitochondrial dna depletion syndrome, hepatocerebral form
|
[NCBI]
|
4.13589e-05
|
|
|
AMPD1
|
[NCBI]
|
4.10952e-05
|
|
|
alpers diffuse degeneration of cerebral gray matter with hepatic cirrhosis
|
[NCBI]
|
4.03759e-05
|
|
|
infantile spasm syndrome, x-linked
|
[NCBI]
|
4.03759e-05
|
|
|
heterotopia, periventricular, x-linked dominant
|
[NCBI]
|
4.03759e-05
|
|
|
carbamoyl phosphate synthetase i deficiency, hyperammonemia due to
|
[NCBI]
|
3.94526e-05
|
|
|
AHDS
|
[NCBI]
|
3.94526e-05
|
|
|
mulibrey nanism
|
[NCBI]
|
3.94526e-05
|
|
|
GLDC
|
[NCBI]
|
3.93472e-05
|
|
|
RPS6KA3
|
[NCBI]
|
3.69874e-05
|
|
|
AGS1
|
[NCBI]
|
3.69795e-05
|
|
|
MDC1A
|
[NCBI]
|
3.55319e-05
|
|
|
long-chain 3-hydroxyacyl-coa dehydrogenase deficiency
|
[NCBI]
|
3.55319e-05
|
|
|
GCDH
|
[NCBI]
|
3.54398e-05
|
|
|
acyl-coa dehydrogenase, medium-chain, deficiency of
|
[NCBI]
|
3.48576e-05
|
|
|
glycogen storage disease ixa
|
[NCBI]
|
3.37978e-05
|
|
|
VWM
|
[NCBI]
|
3.35951e-05
|
|
|
ACLS
|
[NCBI]
|
3.35951e-05
|
|
|
SNRPN
|
[NCBI]
|
3.32117e-05
|
|
|
ASPA
|
[NCBI]
|
3.2659e-05
|
|
|
GCE
|
[NCBI]
|
3.24325e-05
|
|
|
hyperglycerolemia
|
[NCBI]
|
3.24325e-05
|
|
|
MTATP6
|
[NCBI]
|
3.18851e-05
|
|
|
ATRX
|
[NCBI]
|
3.18843e-05
|
|
|
central core disease of muscle
|
[NCBI]
|
3.18843e-05
|
|
|
glycogen storage disease iv
|
[NCBI]
|
3.1356e-05
|
|
|
leiomyomatosis and renal cell cancer, hereditary
|
[NCBI]
|
3.08464e-05
|
|
|
FH
|
[NCBI]
|
3.05019e-05
|
|
|
niemann-pick disease, type a
|
[NCBI]
|
3.03542e-05
|
|
|
MSS
|
[NCBI]
|
3.03542e-05
|
|
|
HRAS
|
[NCBI]
|
3.00818e-05
|
|
|
PKS
|
[NCBI]
|
2.98783e-05
|
|
|
MEN2B
|
[NCBI]
|
2.98783e-05
|
|
|
glycogen storage disease vii
|
[NCBI]
|
2.94179e-05
|
|
|
RSMD1
|
[NCBI]
|
2.89718e-05
|
|
|
mitochondrial complex iv deficiency
|
[NCBI]
|
2.85394e-05
|
|
|
walker-warburg syndrome
|
[NCBI]
|
2.65574e-05
|
|
|
cardiofaciocutaneous syndrome
|
[NCBI]
|
2.65574e-05
|
|
|
GNAS
|
[NCBI]
|
2.48431e-05
|
|
|
SJS1
|
[NCBI]
|
2.48243e-05
|
|
|
hypertrophic neuropathy of dejerine-sottas
|
[NCBI]
|
2.38817e-05
|
|
|
ADHD
|
[NCBI]
|
2.35817e-05
|
|
|
costello syndrome
|
[NCBI]
|
2.24453e-05
|
|
|
RTT
|
[NCBI]
|
2.18428e-05
|
|
|
BRRS
|
[NCBI]
|
2.09071e-05
|
|
|
MECP2
|
[NCBI]
|
2.0494e-05
|
|
|
GPI
|
[NCBI]
|
1.75727e-05
|
|
|
WHS
|
[NCBI]
|
1.50647e-05
|
|
|
glycogen storage disease ii
|
[NCBI]
|
1.49174e-05
|
|
|
LS
|
[NCBI]
|
1.4772e-05
|
|
|
MG
|
[NCBI]
|
1.44376e-05
|
|
|
SMS
|
[NCBI]
|
1.30413e-05
|
|
|
TH
|
[NCBI]
|
1.30358e-05
|
|
|
NF1
|
[NCBI]
|
1.19982e-05
|
|
|
SLOS
|
[NCBI]
|
4.64095e-06
|
|
|
ACHE
|
[NCBI]
|
1.97777e-06
|
|
|
AS
|
[NCBI]
|
1.49846e-06
|
|
|
CD
|
[NCBI]
|
5.55029e-07
|
|
|
GFAP
|
[NCBI]
|
1.4875e-07
|
|