|
OMIM |
Link |
Information gain |
01 |
|
PTOS1
|
[NCBI]
|
0.00376704
|
|
|
BPES
|
[NCBI]
|
0.00229542
|
|
|
CFEOM3
|
[NCBI]
|
0.00198466
|
|
|
mental retardation, congenital heart disease, blepharophimosis, blepharoptosis, and hypoplastic teeth
|
[NCBI]
|
0.00191647
|
|
|
OPMD
|
[NCBI]
|
0.00189795
|
|
|
ptosis, hereditary congenital 2
|
[NCBI]
|
0.00186987
|
|
|
visceral myopathy, familial, with external ophthalmoplegia
|
[NCBI]
|
0.00127099
|
|
|
CFEOM3B
|
[NCBI]
|
0.000931665
|
|
|
CFEOM3A
|
[NCBI]
|
0.000931665
|
|
|
mesomelia-synostoses syndrome
|
[NCBI]
|
0.000714117
|
|
|
blepharophimosis with ptosis, syndactyly, and short stature
|
[NCBI]
|
0.000714117
|
|
|
FOXL2
|
[NCBI]
|
0.000683021
|
|
|
horner syndrome, congenital
|
[NCBI]
|
0.000579249
|
|
|
CNA1
|
[NCBI]
|
0.000579249
|
|
|
adducted thumb-clubfoot syndrome
|
[NCBI]
|
0.000579249
|
|
|
ophthalmoplegia, familial static
|
[NCBI]
|
0.000579249
|
|
|
popliteal pterygium syndrome, lethal type
|
[NCBI]
|
0.000460648
|
|
|
PCA
|
[NCBI]
|
0.000424262
|
|
|
MCOPS1
|
[NCBI]
|
0.000408926
|
|
|
KSS
|
[NCBI]
|
0.000379202
|
|
|
iris coloboma with ptosis, hypertelorism, and mental retardation
|
[NCBI]
|
0.000371828
|
|
|
CFEOM1
|
[NCBI]
|
0.000361215
|
|
|
MG
|
[NCBI]
|
0.000317694
|
|
|
SLE
|
[NCBI]
|
0.000258506
|
|
|
MNGIE
|
[NCBI]
|
0.000243765
|
|
|
myopathy, centronuclear, autosomal dominant
|
[NCBI]
|
0.000223456
|
|
|
pena-shokeir syndrome, type i
|
[NCBI]
|
0.000212534
|
|
|
SCCMS
|
[NCBI]
|
0.00017806
|
|
|
SOX14
|
[NCBI]
|
0.000157766
|
|
|
myopathy, centronuclear, autosomal recessive
|
[NCBI]
|
0.000138222
|
|
|
goldberg-shprintzen megacolon syndrome
|
[NCBI]
|
0.000138222
|
|
|
optic atrophy 1 and deafness
|
[NCBI]
|
0.000138222
|
|
|
HFM
|
[NCBI]
|
0.000119138
|
|
|
multiple pterygium syndrome, escobar variant
|
[NCBI]
|
0.000110852
|
|
|
OPA1
|
[NCBI]
|
0.000110151
|
|
|
myasthenic syndrome, congenital, associated with episodic apnea
|
[NCBI]
|
0.000106573
|
|
|
vertebral fusion, posterior lumbosacral, with blepharoptosis
|
[NCBI]
|
0.000102933
|
|
|
arthrogryposis, distal, with peculiar facies and hydronephrosis
|
[NCBI]
|
0.000102933
|
|
|
sao paulo mca/mr syndrome
|
[NCBI]
|
0.000102933
|
|
|
blepharoptosis, myopia, and ectopia lentis
|
[NCBI]
|
0.000102933
|
|
|
charcot-marie-tooth disease with ptosis and parkinsonism
|
[NCBI]
|
0.000102933
|
|
|
marcus gunn phenomenon
|
[NCBI]
|
0.000102933
|
|
|
oculopharyngodistal myopathy
|
[NCBI]
|
0.000102933
|
|
|
growth and developmental retardation, ocular ptosis, cardiac defect, and anal atresia
|
[NCBI]
|
0.000102933
|
|
|
ptosis, strabismus, and ectopic pupils
|
[NCBI]
|
0.000102933
|
|
|
vocal cord paralysis and ptosis
|
[NCBI]
|
0.000102933
|
|
|
mandibulofacial dysostosis with ptosis, autosomal dominant
|
[NCBI]
|
0.000102933
|
|
|
reese retinal dysplasia
|
[NCBI]
|
0.000102933
|
|
|
zinc finger homeodomain 4
|
[NCBI]
|
8.81249e-05
|
|
|
DA2A
|
[NCBI]
|
8.26236e-05
|
|
|
S PEAK SYNDROME
|
[NCBI]
|
8.04882e-05
|
|
|
cerebrofacioarticular syndrome
|
[NCBI]
|
8.04882e-05
|
|
|
ophthalmoplegic neuromuscular disorder with abnormal mitochondria
|
[NCBI]
|
8.04882e-05
|
|
|
coloboma, uveal, with cleft lip and palate and mental retardation
|
[NCBI]
|
7.20343e-05
|
|
|
fibrosis of extraocular muscles, congenital, with synergistic divergence
|
[NCBI]
|
7.20343e-05
|
|
|
neurofaciodigitorenal syndrome
|
[NCBI]
|
7.20343e-05
|
|
|
acrofrontofacionasal dysostosis, severe
|
[NCBI]
|
7.20343e-05
|
|
|
carnevale syndrome
|
[NCBI]
|
7.20343e-05
|
|
|
MRPS22
|
[NCBI]
|
6.91455e-05
|
|
|
pseudohyperkalemia cardiff
|
[NCBI]
|
6.65542e-05
|
|
|
monosomy 9p syndrome
|
[NCBI]
|
6.65542e-05
|
|
|
CFEOM2
|
[NCBI]
|
6.65542e-05
|
|
|
MTTL2
|
[NCBI]
|
6.5769e-05
|
|
|
cerebellar vermis aplasia with associated features suggesting smith-lemli-opitz syndrome and meckel syndrome
|
[NCBI]
|
6.24865e-05
|
|
|
cryohydrocytosis, stomatin-deficient, with mental retardation, seizures, cataracts, and massive hepatosplenomegaly
|
[NCBI]
|
6.24865e-05
|
|
|
CNA2
|
[NCBI]
|
5.92507e-05
|
|
|
native american myopathy
|
[NCBI]
|
5.92507e-05
|
|
|
SANDO
|
[NCBI]
|
5.65645e-05
|
|
|
C10ORF2
|
[NCBI]
|
5.58217e-05
|
|
|
RAPSN
|
[NCBI]
|
5.48274e-05
|
|
|
spinal muscular atrophy, proximal, adult, autosomal dominant
|
[NCBI]
|
5.22657e-05
|
|
|
whistling face syndrome, recessive form
|
[NCBI]
|
5.22657e-05
|
|
|
ATR
|
[NCBI]
|
4.77153e-05
|
|
|
progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive
|
[NCBI]
|
4.61219e-05
|
|
|
lymphedema, hereditary, i
|
[NCBI]
|
4.61219e-05
|
|
|
langer mesomelic dysplasia
|
[NCBI]
|
4.49019e-05
|
|
|
WS2A
|
[NCBI]
|
4.49019e-05
|
|
|
FAAH
|
[NCBI]
|
3.79848e-05
|
|
|
lymphedema-distichiasis syndrome
|
[NCBI]
|
3.7582e-05
|
|
|
myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency
|
[NCBI]
|
3.5549e-05
|
|
|
andersen cardiodysrhythmic periodic paralysis
|
[NCBI]
|
3.32102e-05
|
|
|
faciogenital dysplasia
|
[NCBI]
|
3.21672e-05
|
|
|
OPA1
|
[NCBI]
|
3.16724e-05
|
|
|
SMA3
|
[NCBI]
|
2.98475e-05
|
|
|
cardiofaciocutaneous syndrome
|
[NCBI]
|
2.78526e-05
|
|
|
SCS
|
[NCBI]
|
2.64388e-05
|
|
|
SJS1
|
[NCBI]
|
2.61068e-05
|
|
|
MTM1
|
[NCBI]
|
2.31689e-05
|
|
|
RSTS
|
[NCBI]
|
2.16744e-05
|
|
|
CRMO
|
[NCBI]
|
2.09872e-05
|
|
|
TCOF
|
[NCBI]
|
2.05487e-05
|
|
|
GDNF
|
[NCBI]
|
1.67921e-05
|
|
|
glycogen storage disease ii
|
[NCBI]
|
1.60823e-05
|
|
|
SMS
|
[NCBI]
|
1.41704e-05
|
|
|
CDLS1
|
[NCBI]
|
1.28738e-05
|
|
|
ACHE
|
[NCBI]
|
8.78161e-06
|
|
|
dystrophia myotonica 1
|
[NCBI]
|
4.87441e-06
|
|