|
OMIM |
Link |
Information gain |
01 |
|
flynn-aird syndrome
|
[NCBI]
|
0.00100366
|
|
|
SLE
|
[NCBI]
|
0.000997825
|
|
|
opticocochleodentate degeneration
|
[NCBI]
|
0.000785962
|
|
|
hemophagocytic lymphohistiocytosis, familial, 1
|
[NCBI]
|
0.00074874
|
|
|
behcet syndrome
|
[NCBI]
|
0.000709108
|
|
|
beta-aminoisobutyric acid, urinary excretion of
|
[NCBI]
|
0.000703952
|
|
|
angioma, hereditary neurocutaneous
|
[NCBI]
|
0.000579915
|
|
|
basal ganglia calcification, idiopathic, childhood-onset
|
[NCBI]
|
0.000479378
|
|
|
blue rubber bleb nevus
|
[NCBI]
|
0.000452463
|
|
|
FEB1
|
[NCBI]
|
0.000452463
|
|
|
schimmelpenning-feuerstein-mims syndrome
|
[NCBI]
|
0.000440615
|
|
|
MRX1
|
[NCBI]
|
0.000409825
|
|
|
IBGC1
|
[NCBI]
|
0.000369488
|
|
|
GFAP
|
[NCBI]
|
0.000315275
|
|
|
MBS
|
[NCBI]
|
0.000307355
|
|
|
RA
|
[NCBI]
|
0.000301595
|
|
|
MBP
|
[NCBI]
|
0.000256204
|
|
|
kabuki syndrome
|
[NCBI]
|
0.000234411
|
|
|
alexander disease
|
[NCBI]
|
0.000227923
|
|
|
CF
|
[NCBI]
|
0.000203819
|
|
|
INAD1
|
[NCBI]
|
0.000161161
|
|
|
TTR
|
[NCBI]
|
0.000151473
|
|
|
MAG
|
[NCBI]
|
0.000136839
|
|
|
elejalde disease
|
[NCBI]
|
0.000121929
|
|
|
GS1
|
[NCBI]
|
0.000113817
|
|
|
amyloidosis vii
|
[NCBI]
|
0.000110428
|
|
|
PNPLA6
|
[NCBI]
|
0.000104841
|
|
|
phosphoglycerate kinase 1 deficiency
|
[NCBI]
|
0.00010202
|
|
|
bowen syndrome of multiple malformations
|
[NCBI]
|
9.7271e-05
|
|
|
neurologic disease, infantile multisystem, with osseous fragility
|
[NCBI]
|
9.7271e-05
|
|
|
panencephalitis, subacute sclerosing
|
[NCBI]
|
8.42558e-05
|
|
|
GAN1
|
[NCBI]
|
8.25588e-05
|
|
|
canavan disease
|
[NCBI]
|
8.25588e-05
|
|
|
ABCD1
|
[NCBI]
|
8.15852e-05
|
|
|
histidinemia
|
[NCBI]
|
8.00422e-05
|
|
|
NKX2-1
|
[NCBI]
|
7.60235e-05
|
|
|
CMTX1
|
[NCBI]
|
7.07609e-05
|
|
|
charge syndrome
|
[NCBI]
|
6.90387e-05
|
|
|
UPB1
|
[NCBI]
|
6.71838e-05
|
|
|
SEPT13
|
[NCBI]
|
6.71838e-05
|
|
|
SEPT10
|
[NCBI]
|
6.71838e-05
|
|
|
SEPT12
|
[NCBI]
|
6.71838e-05
|
|
|
CSPG5
|
[NCBI]
|
6.71838e-05
|
|
|
FENIB
|
[NCBI]
|
6.63964e-05
|
|
|
muscular dystrophy, congenital, with severe central nervous system atrophy and absence of large myelinated fibers
|
[NCBI]
|
6.63964e-05
|
|
|
arthrogryposis multiplex congenita with whistling face
|
[NCBI]
|
6.63964e-05
|
|
|
LIMM
|
[NCBI]
|
6.63964e-05
|
|
|
PMD
|
[NCBI]
|
6.4728e-05
|
|
|
ALD
|
[NCBI]
|
6.28614e-05
|
|
|
NSIAD
|
[NCBI]
|
6.09282e-05
|
|
|
pelizaeus-merzbacher-like disease, autosomal recessive, 1
|
[NCBI]
|
6.09282e-05
|
|
|
LBSL
|
[NCBI]
|
6.09282e-05
|
|
|
PGK1
|
[NCBI]
|
5.69503e-05
|
|
|
melanosis, neurocutaneous
|
[NCBI]
|
5.68724e-05
|
|
|
schindler disease, type i
|
[NCBI]
|
5.68724e-05
|
|
|
CCM2
|
[NCBI]
|
5.68724e-05
|
|
|
MKS3
|
[NCBI]
|
5.68724e-05
|
|
|
branchial myoclonus with spastic paraparesis and cerebellar ataxia
|
[NCBI]
|
5.68724e-05
|
|
|
MKS1
|
[NCBI]
|
5.47871e-05
|
|
|
choreoathetosis, hypothyroidism, and neonatal respiratory distress
|
[NCBI]
|
5.36484e-05
|
|
|
MRXSL
|
[NCBI]
|
5.36484e-05
|
|
|
myoclonus and ataxia
|
[NCBI]
|
5.36484e-05
|
|
|
ACP2
|
[NCBI]
|
5.34145e-05
|
|
|
PI12
|
[NCBI]
|
5.34145e-05
|
|
|
MAB21L1
|
[NCBI]
|
5.34145e-05
|
|
|
HMI
|
[NCBI]
|
5.31494e-05
|
|
|
AD
|
[NCBI]
|
5.1953e-05
|
|
|
LNS
|
[NCBI]
|
5.14316e-05
|
|
|
hypotension, orthostatic
|
[NCBI]
|
5.09741e-05
|
|
|
CCM3
|
[NCBI]
|
5.09741e-05
|
|
|
PLP1
|
[NCBI]
|
4.99874e-05
|
|
|
mitochondrial myopathy with diabetes
|
[NCBI]
|
4.86905e-05
|
|
|
intestinal pseudoobstruction, neuronal, chronic idiopathic, x-linked
|
[NCBI]
|
4.86905e-05
|
|
|
hyperpipecolatemia
|
[NCBI]
|
4.86905e-05
|
|
|
l-2-hydroxyglutaric aciduria
|
[NCBI]
|
4.86905e-05
|
|
|
MRT1
|
[NCBI]
|
4.86905e-05
|
|
|
mitochondrial myopathy
|
[NCBI]
|
4.86905e-05
|
|
|
microcephaly with spastic quadriplegia
|
[NCBI]
|
4.86905e-05
|
|
|
MKS1
|
[NCBI]
|
4.82246e-05
|
|
|
L2HGDH
|
[NCBI]
|
4.82246e-05
|
|
|
PRSS12
|
[NCBI]
|
4.82246e-05
|
|
|
CKB
|
[NCBI]
|
4.48583e-05
|
|
|
TMEM67
|
[NCBI]
|
4.48583e-05
|
|
|
BAK1
|
[NCBI]
|
4.48583e-05
|
|
|
GCSH
|
[NCBI]
|
4.2358e-05
|
|
|
GS2
|
[NCBI]
|
4.1915e-05
|
|
|
GJB1
|
[NCBI]
|
4.11857e-05
|
|
|
VEGF
|
[NCBI]
|
4.0685e-05
|
|
|
renal cysts and diabetes syndrome
|
[NCBI]
|
4.06026e-05
|
|
|
GJC2
|
[NCBI]
|
4.03679e-05
|
|
|
CHD7
|
[NCBI]
|
4.03679e-05
|
|
|
RTN4R
|
[NCBI]
|
4.03679e-05
|
|
|
GUSB
|
[NCBI]
|
3.96745e-05
|
|
|
HHS
|
[NCBI]
|
3.93946e-05
|
|
|
HPRT1
|
[NCBI]
|
3.73491e-05
|
|
|
MJD
|
[NCBI]
|
3.677e-05
|
|
|
alpers diffuse degeneration of cerebral gray matter with hepatic cirrhosis
|
[NCBI]
|
3.62607e-05
|
|
|
CFTD
|
[NCBI]
|
3.62607e-05
|
|
|
NGFB
|
[NCBI]
|
3.50852e-05
|
|
|
ATRN
|
[NCBI]
|
3.49718e-05
|
|
|
CXORF5
|
[NCBI]
|
3.49718e-05
|
|
|
ZS
|
[NCBI]
|
3.44385e-05
|
|
|
CASP1
|
[NCBI]
|
3.39876e-05
|
|
|
CA2
|
[NCBI]
|
3.39876e-05
|
|
|
CIPA
|
[NCBI]
|
3.36724e-05
|
|
|
OPTB3
|
[NCBI]
|
3.29016e-05
|
|
|
gm1-gangliosidosis, type iii
|
[NCBI]
|
3.29016e-05
|
|
|
AGS1
|
[NCBI]
|
3.29016e-05
|
|
|
lymphedema-distichiasis syndrome
|
[NCBI]
|
3.21695e-05
|
|
|
GSD
|
[NCBI]
|
3.14726e-05
|
|
|
SLSN1
|
[NCBI]
|
3.14726e-05
|
|
|
crigler-najjar syndrome
|
[NCBI]
|
3.01722e-05
|
|
|
MADA
|
[NCBI]
|
2.95637e-05
|
|
|
neural tube defects
|
[NCBI]
|
2.89802e-05
|
|
|
TPI1
|
[NCBI]
|
2.84468e-05
|
|
|
OFD1
|
[NCBI]
|
2.84198e-05
|
|
|
DRPLA
|
[NCBI]
|
2.76505e-05
|
|
|
PVR
|
[NCBI]
|
2.74492e-05
|
|
|
DRPLA
|
[NCBI]
|
2.74492e-05
|
|
|
glycogen storage disease iv
|
[NCBI]
|
2.73619e-05
|
|
|
leopard syndrome 1
|
[NCBI]
|
2.68616e-05
|
|
|
cerebrotendinous xanthomatosis
|
[NCBI]
|
2.68616e-05
|
|
|
autonomic control, congenital failure of
|
[NCBI]
|
2.63787e-05
|
|
|
AHC
|
[NCBI]
|
2.63787e-05
|
|
|
GALC
|
[NCBI]
|
2.61258e-05
|
|
|
DNTT
|
[NCBI]
|
2.61258e-05
|
|
|
PRNP
|
[NCBI]
|
2.51795e-05
|
|
|
BCNS
|
[NCBI]
|
2.49147e-05
|
|
|
MG
|
[NCBI]
|
2.47409e-05
|
|
|
usher syndrome, type i
|
[NCBI]
|
2.46012e-05
|
|
|
CHAC
|
[NCBI]
|
2.4191e-05
|
|
|
CJD
|
[NCBI]
|
2.37871e-05
|
|
|
GRN
|
[NCBI]
|
2.36143e-05
|
|
|
MTTK
|
[NCBI]
|
2.30059e-05
|
|
|
GLB1
|
[NCBI]
|
2.27162e-05
|
|
|
walker-warburg syndrome
|
[NCBI]
|
2.26657e-05
|
|
|
FLNA
|
[NCBI]
|
2.18981e-05
|
|
|
coproporphyria
|
[NCBI]
|
2.13908e-05
|
|
|
RUNX1
|
[NCBI]
|
2.11474e-05
|
|
|
ADHD
|
[NCBI]
|
1.97739e-05
|
|
|
CLN3
|
[NCBI]
|
1.92121e-05
|
|
|
neuraminidase deficiency
|
[NCBI]
|
1.89405e-05
|
|
|
PC
|
[NCBI]
|
1.84687e-05
|
|
|
B2M
|
[NCBI]
|
1.77849e-05
|
|
|
CCM
|
[NCBI]
|
1.76664e-05
|
|
|
FAAH
|
[NCBI]
|
1.7622e-05
|
|
|
HAE
|
[NCBI]
|
1.71925e-05
|
|
|
ornithine transcarbamylase deficiency, hyperammonemia due to
|
[NCBI]
|
1.71925e-05
|
|
|
NF2
|
[NCBI]
|
1.62983e-05
|
|
|
AVP
|
[NCBI]
|
1.54706e-05
|
|
|
NPS
|
[NCBI]
|
1.52704e-05
|
|
|
NGFR
|
[NCBI]
|
1.50027e-05
|
|
|
VIM
|
[NCBI]
|
1.47692e-05
|
|
|
ACHE
|
[NCBI]
|
1.43817e-05
|
|
|
porphyria variegata
|
[NCBI]
|
1.39742e-05
|
|
|
WRN
|
[NCBI]
|
1.3463e-05
|
|
|
BTK
|
[NCBI]
|
1.30163e-05
|
|
|
menkes disease
|
[NCBI]
|
1.22111e-05
|
|
|
MAPT
|
[NCBI]
|
1.16609e-05
|
|
|
BCHE
|
[NCBI]
|
1.15836e-05
|
|
|
LS
|
[NCBI]
|
1.13649e-05
|
|
|
PCNA
|
[NCBI]
|
9.56795e-06
|
|
|
MS
|
[NCBI]
|
8.20287e-06
|
|
|
krabbe disease
|
[NCBI]
|
8.01638e-06
|
|
|
VHL
|
[NCBI]
|
7.48229e-06
|
|
|
AFP
|
[NCBI]
|
7.22457e-06
|
|
|
IP
|
[NCBI]
|
6.8247e-06
|
|
|
MPO
|
[NCBI]
|
6.69392e-06
|
|
|
phenylketonuria
|
[NCBI]
|
6.00641e-06
|
|
|
KSS
|
[NCBI]
|
5.67091e-06
|
|
|
PI
|
[NCBI]
|
4.81183e-06
|
|
|
lymphoma, non-hodgkin, familial
|
[NCBI]
|
4.71103e-06
|
|
|
ACE
|
[NCBI]
|
4.55965e-06
|
|
|
DGS
|
[NCBI]
|
4.01452e-06
|
|
|
leber optic atrophy
|
[NCBI]
|
3.82196e-06
|
|
|
CEACAM5
|
[NCBI]
|
3.69595e-06
|
|
|
GAPDH
|
[NCBI]
|
3.4221e-06
|
|
|
CNTF
|
[NCBI]
|
3.34795e-06
|
|
|
thrombocytopenic purpura, autoimmune
|
[NCBI]
|
3.20341e-06
|
|
|
VIP
|
[NCBI]
|
2.9166e-06
|
|
|
COMT
|
[NCBI]
|
2.69557e-06
|
|
|
CD
|
[NCBI]
|
2.56163e-06
|
|
|
TNF
|
[NCBI]
|
2.52632e-06
|
|
|
PRL
|
[NCBI]
|
2.45517e-06
|
|
|
SLOS
|
[NCBI]
|
2.42756e-06
|
|
|
XDH
|
[NCBI]
|
2.17893e-06
|
|
|
PXE
|
[NCBI]
|
2.14107e-06
|
|
|
MFS
|
[NCBI]
|
1.54224e-06
|
|
|
BDNF
|
[NCBI]
|
1.47277e-06
|
|
|
FTD
|
[NCBI]
|
1.19477e-06
|
|
|
GDNF
|
[NCBI]
|
1.09448e-06
|
|
|
TH
|
[NCBI]
|
9.20476e-07
|
|
|
WAS
|
[NCBI]
|
5.62576e-07
|
|
|
amyloidosis vi
|
[NCBI]
|
4.4308e-07
|
|
|
CHAT
|
[NCBI]
|
4.25531e-07
|
|
|
CCK
|
[NCBI]
|
3.06473e-07
|
|
|
CRH
|
[NCBI]
|
2.81487e-07
|
|
|
EPO
|
[NCBI]
|
2.49352e-07
|
|
|
temporal arteritis
|
[NCBI]
|
1.77344e-07
|
|
|
APOE
|
[NCBI]
|
1.72395e-07
|
|
|
HGF
|
[NCBI]
|
1.3381e-07
|
|
|
MUC1
|
[NCBI]
|
9.11576e-08
|
|
|
TNFSF6
|
[NCBI]
|
1.71484e-08
|
|
|
ADA
|
[NCBI]
|
1.53985e-08
|
|
|
RNASE3
|
[NCBI]
|
5.17193e-11
|
|