|
OMIM |
Link |
Information gain |
01 |
|
palatopharyngeal incompetence
|
[NCBI]
|
0.00328729
|
|
|
MRX1
|
[NCBI]
|
0.000964007
|
|
|
RESDAD
|
[NCBI]
|
0.000959695
|
|
|
SPCH1
|
[NCBI]
|
0.00075053
|
|
|
cerebellar hypoplasia, mental retardation, and quadrupedal locomotion
|
[NCBI]
|
0.000660154
|
|
|
mental retardation with optic atrophy, deafness, and seizures
|
[NCBI]
|
0.000660154
|
|
|
STUT1
|
[NCBI]
|
0.000660154
|
|
|
histidinemia
|
[NCBI]
|
0.000615096
|
|
|
indifference to pain, congenital, autosomal dominant
|
[NCBI]
|
0.000607072
|
|
|
speech-sound disorder
|
[NCBI]
|
0.000607072
|
|
|
AUTS5
|
[NCBI]
|
0.000607072
|
|
|
basal ganglia calcification, idiopathic, 2
|
[NCBI]
|
0.000607072
|
|
|
syndactyly, type i, with microcephaly and mental retardation
|
[NCBI]
|
0.000510391
|
|
|
blepharocheilodontic syndrome
|
[NCBI]
|
0.000488197
|
|
|
gordon syndrome
|
[NCBI]
|
0.000451673
|
|
|
THAS
|
[NCBI]
|
0.000451673
|
|
|
FOXP2
|
[NCBI]
|
0.000450847
|
|
|
floating-harbor syndrome
|
[NCBI]
|
0.000330086
|
|
|
dubowitz syndrome
|
[NCBI]
|
0.000314024
|
|
|
RTT
|
[NCBI]
|
0.000256334
|
|
|
autism
|
[NCBI]
|
0.000234292
|
|
|
velocardiofacial syndrome
|
[NCBI]
|
0.000191734
|
|
|
dysphasia, familial developmental
|
[NCBI]
|
0.000188284
|
|
|
mental retardation, buenos aires type
|
[NCBI]
|
0.000188284
|
|
|
AS
|
[NCBI]
|
0.000179235
|
|
|
EKD1
|
[NCBI]
|
0.000167331
|
|
|
AUH
|
[NCBI]
|
0.000134153
|
|
|
SLE
|
[NCBI]
|
0.0001204
|
|
|
insensitivity to pain with hyperplastic myelinopathy
|
[NCBI]
|
0.000109532
|
|
|
plantar lipomatosis, unusual facies, and developmental delay
|
[NCBI]
|
8.70777e-05
|
|
|
williams-beuren region duplication syndrome
|
[NCBI]
|
8.70777e-05
|
|
|
ophthalmoplegic neuromuscular disorder with abnormal mitochondria
|
[NCBI]
|
8.70777e-05
|
|
|
SCA7
|
[NCBI]
|
7.97895e-05
|
|
|
CPI
|
[NCBI]
|
7.95196e-05
|
|
|
chorea, benign familial
|
[NCBI]
|
7.86143e-05
|
|
|
HD
|
[NCBI]
|
7.48724e-05
|
|
|
MTTR
|
[NCBI]
|
6.86721e-05
|
|
|
fumarase deficiency
|
[NCBI]
|
6.58022e-05
|
|
|
dystonia, familial, with visual failure and striatal lucencies
|
[NCBI]
|
6.58022e-05
|
|
|
short syndrome
|
[NCBI]
|
6.08016e-05
|
|
|
SMS
|
[NCBI]
|
6.03198e-05
|
|
|
HSR
|
[NCBI]
|
5.91221e-05
|
|
|
NYS1
|
[NCBI]
|
5.87887e-05
|
|
|
USH1D
|
[NCBI]
|
5.53976e-05
|
|
|
progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive
|
[NCBI]
|
5.2607e-05
|
|
|
SNDI
|
[NCBI]
|
5.2607e-05
|
|
|
3-@methylglutaconic aciduria, type i
|
[NCBI]
|
5.2607e-05
|
|
|
SACS
|
[NCBI]
|
5.13775e-05
|
|
|
indifference to pain, congenital, autosomal recessive
|
[NCBI]
|
5.13775e-05
|
|
|
mannosidosis, beta a, lysosomal
|
[NCBI]
|
4.91747e-05
|
|
|
BOS1
|
[NCBI]
|
4.91747e-05
|
|
|
aceruloplasminemia
|
[NCBI]
|
4.91747e-05
|
|
|
GTS
|
[NCBI]
|
4.90752e-05
|
|
|
DRPLA
|
[NCBI]
|
4.90073e-05
|
|
|
EYA1
|
[NCBI]
|
4.77153e-05
|
|
|
PANK2
|
[NCBI]
|
4.67926e-05
|
|
|
BHC
|
[NCBI]
|
4.6362e-05
|
|
|
NPC1
|
[NCBI]
|
4.41096e-05
|
|
|
NBIA1
|
[NCBI]
|
4.32634e-05
|
|
|
refsum disease
|
[NCBI]
|
4.19203e-05
|
|
|
PGK1
|
[NCBI]
|
4.17357e-05
|
|
|
ornithine aminotransferase deficiency
|
[NCBI]
|
4.14755e-05
|
|
|
PSNP1
|
[NCBI]
|
4.12904e-05
|
|
|
MRXHF1
|
[NCBI]
|
4.12904e-05
|
|
|
POF1
|
[NCBI]
|
4.06856e-05
|
|
|
OKS
|
[NCBI]
|
3.90032e-05
|
|
|
myoclonic epilepsy of lafora
|
[NCBI]
|
3.74894e-05
|
|
|
SGBS1
|
[NCBI]
|
3.70169e-05
|
|
|
mannosidosis, alpha b, lysosomal
|
[NCBI]
|
3.56828e-05
|
|
|
MJD
|
[NCBI]
|
3.38097e-05
|
|
|
ADHD
|
[NCBI]
|
3.0988e-05
|
|
|
galactosemia
|
[NCBI]
|
3.00905e-05
|
|
|
MECP2
|
[NCBI]
|
2.96235e-05
|
|
|
NPC1
|
[NCBI]
|
2.48301e-05
|
|
|
CP
|
[NCBI]
|
2.42154e-05
|
|
|
SLS
|
[NCBI]
|
2.36872e-05
|
|
|
WHS
|
[NCBI]
|
2.1977e-05
|
|
|
PD
|
[NCBI]
|
2.16603e-05
|
|
|
NF1
|
[NCBI]
|
2.06681e-05
|
|
|
wilson disease
|
[NCBI]
|
1.91161e-05
|
|
|
CDLS1
|
[NCBI]
|
1.83717e-05
|
|
|
FRDA
|
[NCBI]
|
1.83717e-05
|
|
|
SMAX1
|
[NCBI]
|
1.53135e-05
|
|
|
KSS
|
[NCBI]
|
1.46834e-05
|
|
|
EV
|
[NCBI]
|
1.45963e-05
|
|
|
WBS
|
[NCBI]
|
1.12751e-05
|
|
|
PWS
|
[NCBI]
|
1.04599e-05
|
|
|
dystrophia myotonica 1
|
[NCBI]
|
9.25082e-06
|
|
|
BWS
|
[NCBI]
|
5.99897e-06
|
|
|
NGFB
|
[NCBI]
|
4.1045e-06
|
|
|
AD
|
[NCBI]
|
3.88897e-06
|
|
|
MG
|
[NCBI]
|
3.59469e-06
|
|
|
ALD
|
[NCBI]
|
3.19123e-06
|
|