|
OMIM |
Link |
Information gain |
01 |
|
EKD1
|
[NCBI]
|
0.00534296
|
|
|
pontocerebellar hypoplasia, type 2
|
[NCBI]
|
0.00147001
|
|
|
tricarboxylic acid cycle, defect of
|
[NCBI]
|
0.000882469
|
|
|
olivopontocerebellar atrophy ii, autosomal recessive
|
[NCBI]
|
0.000882469
|
|
|
AS
|
[NCBI]
|
0.000872737
|
|
|
IBGC1
|
[NCBI]
|
0.000726966
|
|
|
dyskinesia, familial, with facial myokymia
|
[NCBI]
|
0.000665076
|
|
|
NEM6
|
[NCBI]
|
0.000665076
|
|
|
spinocerebellar ataxia with rigidity and peripheral neuropathy
|
[NCBI]
|
0.000665076
|
|
|
pallidopyramidal syndrome
|
[NCBI]
|
0.000665076
|
|
|
joint laxity, familial
|
[NCBI]
|
0.000665076
|
|
|
ketoaciduria with mental deficiency and other features
|
[NCBI]
|
0.000665076
|
|
|
dibasicaminoaciduria i
|
[NCBI]
|
0.000665076
|
|
|
SCAR3
|
[NCBI]
|
0.000583375
|
|
|
sprengel deformity
|
[NCBI]
|
0.000583375
|
|
|
ICCA
|
[NCBI]
|
0.000530517
|
|
|
cutis laxa, corneal clouding, and mental retardation
|
[NCBI]
|
0.000460266
|
|
|
hereditary motor and sensory neuropathy v
|
[NCBI]
|
0.000434506
|
|
|
ocular motor apraxia
|
[NCBI]
|
0.000412535
|
|
|
arima syndrome
|
[NCBI]
|
0.000412535
|
|
|
oculocerebral syndrome with hypopigmentation
|
[NCBI]
|
0.000412535
|
|
|
amyotrophy, monomelic
|
[NCBI]
|
0.000376459
|
|
|
PNKD1
|
[NCBI]
|
0.00036883
|
|
|
RA
|
[NCBI]
|
0.000304521
|
|
|
PD
|
[NCBI]
|
0.000283885
|
|
|
hyperekplexia, hereditary
|
[NCBI]
|
0.000242311
|
|
|
SLE
|
[NCBI]
|
0.00020782
|
|
|
MBS
|
[NCBI]
|
0.000196073
|
|
|
HD
|
[NCBI]
|
0.000188899
|
|
|
DRPLA
|
[NCBI]
|
0.000164318
|
|
|
jumping frenchman of maine
|
[NCBI]
|
0.000161927
|
|
|
CHAC
|
[NCBI]
|
0.000142528
|
|
|
3-@methylglutaconic aciduria, type iii
|
[NCBI]
|
0.000139066
|
|
|
GTS
|
[NCBI]
|
0.000125314
|
|
|
GAMT
|
[NCBI]
|
0.000119393
|
|
|
L1CAM
|
[NCBI]
|
0.000114072
|
|
|
EA1
|
[NCBI]
|
0.000109477
|
|
|
glutaric acidemia i
|
[NCBI]
|
0.000103641
|
|
|
hypotonia, congenital nystagmus, ataxia, and abnormal auditory brainstem responses
|
[NCBI]
|
0.000103355
|
|
|
spastic paraplegia and evans syndrome
|
[NCBI]
|
0.000103355
|
|
|
hypertrophic neuropathy and cataract
|
[NCBI]
|
0.000103355
|
|
|
gamstorp-wohlfart syndrome
|
[NCBI]
|
0.000103355
|
|
|
levator-medial rectus synkinesis
|
[NCBI]
|
0.000103355
|
|
|
mirror movements, hereditary
|
[NCBI]
|
0.000103355
|
|
|
pronation-supination of the forearm, impairment of
|
[NCBI]
|
0.000103355
|
|
|
masa syndrome
|
[NCBI]
|
0.000100277
|
|
|
panencephalitis, subacute sclerosing
|
[NCBI]
|
8.97345e-05
|
|
|
mannosidosis, alpha b, lysosomal
|
[NCBI]
|
8.16482e-05
|
|
|
ataxic diplegia with defective cellular immunity
|
[NCBI]
|
8.09099e-05
|
|
|
piebald trait with neurologic defects
|
[NCBI]
|
8.09099e-05
|
|
|
mast syndrome
|
[NCBI]
|
8.09099e-05
|
|
|
DRPLA
|
[NCBI]
|
7.982e-05
|
|
|
CHAT
|
[NCBI]
|
7.81057e-05
|
|
|
COMT
|
[NCBI]
|
7.37035e-05
|
|
|
EPHA4
|
[NCBI]
|
7.26222e-05
|
|
|
SCNM1
|
[NCBI]
|
7.26222e-05
|
|
|
GRIN2C
|
[NCBI]
|
7.26222e-05
|
|
|
oculocerebral hypopigmentation syndrome of preus
|
[NCBI]
|
7.24553e-05
|
|
|
CJD
|
[NCBI]
|
6.74824e-05
|
|
|
hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration
|
[NCBI]
|
6.69745e-05
|
|
|
spastic ataxia
|
[NCBI]
|
6.69745e-05
|
|
|
paroxysmal tonic upgaze, benign childhood, with ataxia
|
[NCBI]
|
6.69745e-05
|
|
|
ATCAY
|
[NCBI]
|
6.69745e-05
|
|
|
TH
|
[NCBI]
|
6.59494e-05
|
|
|
MAG
|
[NCBI]
|
6.39073e-05
|
|
|
roussy-levy hereditary areflexic dystasia
|
[NCBI]
|
6.2906e-05
|
|
|
marfanoid hypermobility syndrome
|
[NCBI]
|
5.96695e-05
|
|
|
aromatic l-amino acid decarboxylase deficiency
|
[NCBI]
|
5.96695e-05
|
|
|
FAAH
|
[NCBI]
|
5.9234e-05
|
|
|
acidic cluster protein, 33-kd
|
[NCBI]
|
5.88481e-05
|
|
|
SLC4A3
|
[NCBI]
|
5.88481e-05
|
|
|
HOXB8
|
[NCBI]
|
5.88481e-05
|
|
|
n-acetylglutamate synthase deficiency
|
[NCBI]
|
5.69826e-05
|
|
|
IREB2
|
[NCBI]
|
5.36533e-05
|
|
|
VLDLRCH
|
[NCBI]
|
5.26823e-05
|
|
|
BDNF
|
[NCBI]
|
5.19175e-05
|
|
|
trismus-pseudocamptodactyly syndrome
|
[NCBI]
|
5.09049e-05
|
|
|
SGNE1
|
[NCBI]
|
5.02821e-05
|
|
|
SLC12A2
|
[NCBI]
|
5.02821e-05
|
|
|
CMT2A2
|
[NCBI]
|
4.93087e-05
|
|
|
PARK1
|
[NCBI]
|
4.65355e-05
|
|
|
HAL
|
[NCBI]
|
4.5782e-05
|
|
|
ALS2
|
[NCBI]
|
4.41835e-05
|
|
|
multiple pterygium syndrome, escobar variant
|
[NCBI]
|
4.41835e-05
|
|
|
aceruloplasminemia
|
[NCBI]
|
4.31295e-05
|
|
|
FXTAS
|
[NCBI]
|
4.21433e-05
|
|
|
VED
|
[NCBI]
|
4.03432e-05
|
|
|
SCN8A
|
[NCBI]
|
3.93774e-05
|
|
|
FOXP2
|
[NCBI]
|
3.84791e-05
|
|
|
GDNF
|
[NCBI]
|
3.82242e-05
|
|
|
RELN
|
[NCBI]
|
3.76564e-05
|
|
|
SPR
|
[NCBI]
|
3.76564e-05
|
|
|
EAOH
|
[NCBI]
|
3.72795e-05
|
|
|
alsin
|
[NCBI]
|
3.61936e-05
|
|
|
GLRA1
|
[NCBI]
|
3.5537e-05
|
|
|
histidinemia
|
[NCBI]
|
3.47368e-05
|
|
|
PWS
|
[NCBI]
|
3.45698e-05
|
|
|
MFN2
|
[NCBI]
|
3.37976e-05
|
|
|
gaucher disease, type iii
|
[NCBI]
|
3.25677e-05
|
|
|
PANK2
|
[NCBI]
|
3.1878e-05
|
|
|
myoclonic epilepsy of lafora
|
[NCBI]
|
3.15931e-05
|
|
|
GRPR
|
[NCBI]
|
3.14523e-05
|
|
|
PTK2B
|
[NCBI]
|
3.10446e-05
|
|
|
phenylketonuria ii
|
[NCBI]
|
3.10446e-05
|
|
|
TGD
|
[NCBI]
|
3.06801e-05
|
|
|
GCDH
|
[NCBI]
|
2.99161e-05
|
|
|
TFRC
|
[NCBI]
|
2.99161e-05
|
|
|
myoclonic dystonia
|
[NCBI]
|
2.98216e-05
|
|
|
oca2 gene
|
[NCBI]
|
2.95677e-05
|
|
|
NPC1
|
[NCBI]
|
2.92315e-05
|
|
|
NP
|
[NCBI]
|
2.77082e-05
|
|
|
PGK1
|
[NCBI]
|
2.68992e-05
|
|
|
GFAP
|
[NCBI]
|
2.65149e-05
|
|
|
VEGF
|
[NCBI]
|
2.6146e-05
|
|
|
AD
|
[NCBI]
|
2.47864e-05
|
|
|
RTT
|
[NCBI]
|
2.46751e-05
|
|
|
MAOA
|
[NCBI]
|
2.44152e-05
|
|
|
galactosemia
|
[NCBI]
|
2.43694e-05
|
|
|
CSA
|
[NCBI]
|
2.43694e-05
|
|
|
DYT1
|
[NCBI]
|
2.43694e-05
|
|
|
KAL1
|
[NCBI]
|
2.40268e-05
|
|
|
MJD
|
[NCBI]
|
2.36777e-05
|
|
|
CCL22
|
[NCBI]
|
2.32956e-05
|
|
|
SCZD
|
[NCBI]
|
2.22905e-05
|
|
|
CLS
|
[NCBI]
|
2.13629e-05
|
|
|
LNS
|
[NCBI]
|
2.09229e-05
|
|
|
CCK
|
[NCBI]
|
1.97059e-05
|
|
|
NPC1
|
[NCBI]
|
1.93018e-05
|
|
|
LPI
|
[NCBI]
|
1.89275e-05
|
|
|
FOP
|
[NCBI]
|
1.87445e-05
|
|
|
ACADM
|
[NCBI]
|
1.87024e-05
|
|
|
MAPT
|
[NCBI]
|
1.65588e-05
|
|
|
LS
|
[NCBI]
|
1.62896e-05
|
|
|
LRP1
|
[NCBI]
|
1.57715e-05
|
|
|
MECP2
|
[NCBI]
|
1.52612e-05
|
|
|
FFI
|
[NCBI]
|
1.41443e-05
|
|
|
wilson disease
|
[NCBI]
|
1.39033e-05
|
|
|
krabbe disease
|
[NCBI]
|
1.25628e-05
|
|
|
IP
|
[NCBI]
|
1.11946e-05
|
|
|
MG
|
[NCBI]
|
1.11182e-05
|
|
|
SOD1
|
[NCBI]
|
9.67253e-06
|
|
|
PCD
|
[NCBI]
|
8.59449e-06
|
|
|
DMD
|
[NCBI]
|
7.57358e-06
|
|
|
SLC6A3
|
[NCBI]
|
7.45392e-06
|
|
|
SHH
|
[NCBI]
|
7.26213e-06
|
|
|
TSD
|
[NCBI]
|
7.16622e-06
|
|
|
CHS
|
[NCBI]
|
6.72687e-06
|
|
|
PTH
|
[NCBI]
|
6.5538e-06
|
|
|
SOD2
|
[NCBI]
|
6.2262e-06
|
|
|
FTD
|
[NCBI]
|
5.75074e-06
|
|
|
SLOS
|
[NCBI]
|
5.73737e-06
|
|
|
ACHE
|
[NCBI]
|
5.39938e-06
|
|
|
dystrophia myotonica 1
|
[NCBI]
|
5.12585e-06
|
|
|
PTK2
|
[NCBI]
|
4.72479e-06
|
|
|
PRL
|
[NCBI]
|
2.27379e-06
|
|
|
AT
|
[NCBI]
|
2.23575e-06
|
|
|
PCNA
|
[NCBI]
|
2.05721e-06
|
|
|
MPO
|
[NCBI]
|
1.04485e-06
|
|
|
EPO
|
[NCBI]
|
1.0425e-06
|
|
|
NGFB
|
[NCBI]
|
6.00105e-07
|
|
|
APOE
|
[NCBI]
|
4.22062e-07
|
|
|
AVP
|
[NCBI]
|
1.47329e-07
|
|
|
MBP
|
[NCBI]
|
2.19755e-08
|
|