|
OMIM |
Link |
Information gain |
01 |
|
PPR
|
[NCBI]
|
0.00464924
|
|
|
epilepsy, myoclonic, benign adult familial, type 2
|
[NCBI]
|
0.000975924
|
|
|
giant axonal neuropathy, autosomal dominant
|
[NCBI]
|
0.000975924
|
|
|
OPA2
|
[NCBI]
|
0.000876099
|
|
|
NYS2
|
[NCBI]
|
0.000693313
|
|
|
kohlschutter-tonz syndrome
|
[NCBI]
|
0.000693313
|
|
|
RP
|
[NCBI]
|
0.000313551
|
|
|
ALD
|
[NCBI]
|
0.000312219
|
|
|
CJD
|
[NCBI]
|
0.000265203
|
|
|
papillorenal syndrome
|
[NCBI]
|
0.000151722
|
|
|
leber optic atrophy
|
[NCBI]
|
0.000148196
|
|
|
SPERM
|
[NCBI]
|
0.000131517
|
|
|
MEB
|
[NCBI]
|
0.00010943
|
|
|
OCA1A
|
[NCBI]
|
0.000108328
|
|
|
myoclonic epilepsy of unverricht and lundborg
|
[NCBI]
|
0.000107258
|
|
|
CMT1B
|
[NCBI]
|
9.8783e-05
|
|
|
muscular dystrophy, congenital, with severe central nervous system atrophy and absence of large myelinated fibers
|
[NCBI]
|
9.33167e-05
|
|
|
HJMD
|
[NCBI]
|
9.33167e-05
|
|
|
SLS
|
[NCBI]
|
9.25802e-05
|
|
|
LIS2
|
[NCBI]
|
7.7497e-05
|
|
|
SLE
|
[NCBI]
|
7.71829e-05
|
|
|
CSNB1B
|
[NCBI]
|
7.41704e-05
|
|
|
succinyl-coa:3-oxoacid coa transferase deficiency
|
[NCBI]
|
7.41704e-05
|
|
|
krabbe disease
|
[NCBI]
|
7.14827e-05
|
|
|
CF
|
[NCBI]
|
6.81207e-05
|
|
|
SNDI
|
[NCBI]
|
6.28669e-05
|
|
|
CLN5
|
[NCBI]
|
6.28669e-05
|
|
|
SACS
|
[NCBI]
|
6.28669e-05
|
|
|
ACCPN
|
[NCBI]
|
6.12235e-05
|
|
|
cerebrotendinous xanthomatosis
|
[NCBI]
|
5.9709e-05
|
|
|
CHS
|
[NCBI]
|
5.45581e-05
|
|
|
AIED
|
[NCBI]
|
5.35349e-05
|
|
|
panencephalitis, subacute sclerosing
|
[NCBI]
|
5.31611e-05
|
|
|
MBP
|
[NCBI]
|
5.28512e-05
|
|
|
canavan disease
|
[NCBI]
|
5.25081e-05
|
|
|
MDC1A
|
[NCBI]
|
5.06078e-05
|
|
|
LCA1
|
[NCBI]
|
4.73014e-05
|
|
|
musical perfect pitch
|
[NCBI]
|
4.58447e-05
|
|
|
GJB1
|
[NCBI]
|
4.3449e-05
|
|
|
OCA2
|
[NCBI]
|
4.14979e-05
|
|
|
CADASIL
|
[NCBI]
|
4.14979e-05
|
|
|
OPA1
|
[NCBI]
|
4.09536e-05
|
|
|
CDG1A
|
[NCBI]
|
4.04251e-05
|
|
|
adrenoleukodystrophy, autosomal neonatal form
|
[NCBI]
|
3.79936e-05
|
|
|
ABL
|
[NCBI]
|
3.71068e-05
|
|
|
SCA6
|
[NCBI]
|
3.62625e-05
|
|
|
VSX1
|
[NCBI]
|
3.59672e-05
|
|
|
GRM6
|
[NCBI]
|
3.59672e-05
|
|
|
RORB
|
[NCBI]
|
3.49719e-05
|
|
|
AMC
|
[NCBI]
|
3.46868e-05
|
|
|
SCA7
|
[NCBI]
|
3.43143e-05
|
|
|
SACS
|
[NCBI]
|
3.33754e-05
|
|
|
BDNF
|
[NCBI]
|
3.15192e-05
|
|
|
PROS1
|
[NCBI]
|
2.57914e-05
|
|
|
HMI
|
[NCBI]
|
2.50619e-05
|
|
|
PDE6B
|
[NCBI]
|
2.42613e-05
|
|
|
RELN
|
[NCBI]
|
2.31715e-05
|
|
|
ADHD
|
[NCBI]
|
2.22804e-05
|
|
|
MTND4
|
[NCBI]
|
2.15527e-05
|
|
|
FRDA
|
[NCBI]
|
2.12647e-05
|
|
|
MAPK3
|
[NCBI]
|
2.07607e-05
|
|
|
BBS
|
[NCBI]
|
1.94248e-05
|
|
|
MAPK1
|
[NCBI]
|
1.80506e-05
|
|
|
HPS
|
[NCBI]
|
1.76715e-05
|
|
|
EIG
|
[NCBI]
|
1.71747e-05
|
|
|
PMD
|
[NCBI]
|
1.71747e-05
|
|
|
DRPLA
|
[NCBI]
|
1.54639e-05
|
|
|
PMP22
|
[NCBI]
|
1.47178e-05
|
|
|
NF1
|
[NCBI]
|
1.30302e-05
|
|
|
CAT
|
[NCBI]
|
1.24063e-05
|
|
|
apnea, obstructive sleep
|
[NCBI]
|
1.23632e-05
|
|
|
MG
|
[NCBI]
|
1.1971e-05
|
|
|
INS
|
[NCBI]
|
1.18097e-05
|
|
|
MAG
|
[NCBI]
|
1.10444e-05
|
|
|
PWS
|
[NCBI]
|
9.83284e-06
|
|
|
NGFB
|
[NCBI]
|
9.50972e-06
|
|
|
MJD
|
[NCBI]
|
8.85065e-06
|
|
|
GFAP
|
[NCBI]
|
7.62809e-06
|
|
|
CNTF
|
[NCBI]
|
7.39353e-06
|
|
|
PD
|
[NCBI]
|
6.34056e-06
|
|
|
AS
|
[NCBI]
|
4.86964e-06
|
|
|
MDD
|
[NCBI]
|
4.01878e-06
|
|
|
CHAT
|
[NCBI]
|
3.34067e-06
|
|
|
CFTR
|
[NCBI]
|
2.93383e-06
|
|
|
TS
|
[NCBI]
|
2.32867e-06
|
|
|
FMF
|
[NCBI]
|
1.60094e-06
|
|
|
ACHE
|
[NCBI]
|
8.03592e-07
|
|
|
TNF
|
[NCBI]
|
5.5931e-07
|
|
|
VEGF
|
[NCBI]
|
5.06316e-07
|
|
|
thrombocytopenic purpura, autoimmune
|
[NCBI]
|
2.76276e-07
|
|
|
PTH
|
[NCBI]
|
2.46167e-07
|
|
|
AD
|
[NCBI]
|
1.69022e-10
|
|