|
OMIM |
Link |
Information gain |
01 |
|
WDM
|
[NCBI]
|
0.00257218
|
|
|
OPMD
|
[NCBI]
|
0.00249967
|
|
|
ACG1A
|
[NCBI]
|
0.00249721
|
|
|
myopathy, hyaline body, autosomal recessive
|
[NCBI]
|
0.00218564
|
|
|
FTD
|
[NCBI]
|
0.00186404
|
|
|
diarrhea 2, with microvillous atrophy
|
[NCBI]
|
0.00140676
|
|
|
lobular glomerulopathy, familial
|
[NCBI]
|
0.000990474
|
|
|
MHA
|
[NCBI]
|
0.000952777
|
|
|
visceral neuropathy, familial, autosomal recessive
|
[NCBI]
|
0.000742173
|
|
|
FTNS
|
[NCBI]
|
0.000698538
|
|
|
kohlschutter-tonz syndrome
|
[NCBI]
|
0.000697666
|
|
|
NEM3
|
[NCBI]
|
0.000662856
|
|
|
DRPLA
|
[NCBI]
|
0.00065196
|
|
|
myopathy, tubular aggregate
|
[NCBI]
|
0.000629273
|
|
|
RA
|
[NCBI]
|
0.000617834
|
|
|
carnitine deficiency, myopathic
|
[NCBI]
|
0.000601823
|
|
|
ZLS
|
[NCBI]
|
0.000601823
|
|
|
DBQD
|
[NCBI]
|
0.00057751
|
|
|
MJD
|
[NCBI]
|
0.000560455
|
|
|
megaduodenum and/or megacystis
|
[NCBI]
|
0.000535946
|
|
|
myopathy, myosin storage
|
[NCBI]
|
0.000523785
|
|
|
HD
|
[NCBI]
|
0.00050632
|
|
|
SBS
|
[NCBI]
|
0.000505612
|
|
|
CDAN2
|
[NCBI]
|
0.000433907
|
|
|
neuronal intranuclear inclusion disease
|
[NCBI]
|
0.000431309
|
|
|
SPS
|
[NCBI]
|
0.000392649
|
|
|
MAPT
|
[NCBI]
|
0.000325455
|
|
|
FTLDU
|
[NCBI]
|
0.000314762
|
|
|
alport syndrome, autosomal dominant
|
[NCBI]
|
0.000310681
|
|
|
CLN3
|
[NCBI]
|
0.000309757
|
|
|
SMAX1
|
[NCBI]
|
0.000290871
|
|
|
myoclonic epilepsy of lafora
|
[NCBI]
|
0.00028855
|
|
|
FENIB
|
[NCBI]
|
0.000287451
|
|
|
RDT
|
[NCBI]
|
0.00028158
|
|
|
mucolipidosis iv
|
[NCBI]
|
0.000267537
|
|
|
myopathy, myofibrillar, desmin-related
|
[NCBI]
|
0.000262878
|
|
|
beta thalassemia, dominant inclusion body type
|
[NCBI]
|
0.000233526
|
|
|
PD
|
[NCBI]
|
0.000231627
|
|
|
krabbe disease
|
[NCBI]
|
0.000226232
|
|
|
HBB
|
[NCBI]
|
0.000209416
|
|
|
IBM2
|
[NCBI]
|
0.000209337
|
|
|
CHS
|
[NCBI]
|
0.000205319
|
|
|
DLB
|
[NCBI]
|
0.000204184
|
|
|
ALD
|
[NCBI]
|
0.000193665
|
|
|
PSACH
|
[NCBI]
|
0.000182117
|
|
|
SLE
|
[NCBI]
|
0.000177504
|
|
|
APBD
|
[NCBI]
|
0.000169685
|
|
|
SNCA
|
[NCBI]
|
0.000156545
|
|
|
MYH9
|
[NCBI]
|
0.000156179
|
|
|
ATXN1
|
[NCBI]
|
0.000156179
|
|
|
CLN5
|
[NCBI]
|
0.000153622
|
|
|
SOD1
|
[NCBI]
|
0.000148383
|
|
|
sea-blue histiocyte disease
|
[NCBI]
|
0.000147094
|
|
|
PARK1
|
[NCBI]
|
0.000147094
|
|
|
amyotrophic lateral sclerosis with polyglucosan bodies
|
[NCBI]
|
0.000143681
|
|
|
osteosclerotic chondrodysplasia, lethal, with intracellular inclusions
|
[NCBI]
|
0.000143681
|
|
|
fingerprint body myopathy
|
[NCBI]
|
0.000143681
|
|
|
SCA2
|
[NCBI]
|
0.000142332
|
|
|
epstein syndrome
|
[NCBI]
|
0.000141279
|
|
|
SCA7
|
[NCBI]
|
0.000140147
|
|
|
CLN2
|
[NCBI]
|
0.000131274
|
|
|
SCA17
|
[NCBI]
|
0.000126906
|
|
|
tibial muscular dystrophy, tardive
|
[NCBI]
|
0.000122877
|
|
|
ALS1
|
[NCBI]
|
0.000121327
|
|
|
VCP
|
[NCBI]
|
0.000120975
|
|
|
neuraminidase deficiency
|
[NCBI]
|
0.000116543
|
|
|
CLN1
|
[NCBI]
|
0.000109327
|
|
|
dystonia, juvenile-onset
|
[NCBI]
|
0.000104582
|
|
|
mucopolysaccharidosis type vi
|
[NCBI]
|
0.000101117
|
|
|
mucopolysaccharidoses, unclassified types
|
[NCBI]
|
8.99353e-05
|
|
|
thrombocytosis, benign familial microcytic
|
[NCBI]
|
8.99353e-05
|
|
|
myopathy, spheroid body
|
[NCBI]
|
8.99353e-05
|
|
|
gaucher disease, type iiic
|
[NCBI]
|
8.0486e-05
|
|
|
PLSDT
|
[NCBI]
|
8.0486e-05
|
|
|
HDL2
|
[NCBI]
|
8.0486e-05
|
|
|
CLN8
|
[NCBI]
|
8.0486e-05
|
|
|
sandhoff disease
|
[NCBI]
|
7.46437e-05
|
|
|
GRN
|
[NCBI]
|
7.37663e-05
|
|
|
3-@methylcrotonyl-coa carboxylase 1 deficiency
|
[NCBI]
|
7.35052e-05
|
|
|
MLASA
|
[NCBI]
|
7.35052e-05
|
|
|
EDM4
|
[NCBI]
|
7.35052e-05
|
|
|
schneckenbecken dysplasia
|
[NCBI]
|
7.35052e-05
|
|
|
MYH7
|
[NCBI]
|
6.90739e-05
|
|
|
MUC1
|
[NCBI]
|
6.81624e-05
|
|
|
PI
|
[NCBI]
|
6.72467e-05
|
|
|
panencephalitis, subacute sclerosing
|
[NCBI]
|
6.57421e-05
|
|
|
arthrogryposis, renal dysfunction, and cholestasis
|
[NCBI]
|
6.34123e-05
|
|
|
AR
|
[NCBI]
|
6.03736e-05
|
|
|
halothane hepatitis
|
[NCBI]
|
5.9529e-05
|
|
|
fibromatosis, juvenile hyaline
|
[NCBI]
|
5.9529e-05
|
|
|
PMP22
|
[NCBI]
|
5.92589e-05
|
|
|
EPM2A
|
[NCBI]
|
5.64428e-05
|
|
|
ATXN7
|
[NCBI]
|
5.64428e-05
|
|
|
HPS2
|
[NCBI]
|
5.61562e-05
|
|
|
hemoglobin--variants for which the chain carrying the mutation is unknown or uncertain
|
[NCBI]
|
5.61562e-05
|
|
|
mucolipidosis ii
|
[NCBI]
|
5.25804e-05
|
|
|
HAP1
|
[NCBI]
|
5.10181e-05
|
|
|
sialuria
|
[NCBI]
|
5.05198e-05
|
|
|
HEPOD
|
[NCBI]
|
5.05198e-05
|
|
|
CDK5
|
[NCBI]
|
4.88498e-05
|
|
|
ARID1A
|
[NCBI]
|
4.88315e-05
|
|
|
NM
|
[NCBI]
|
4.5933e-05
|
|
|
glycogen storage disease ii
|
[NCBI]
|
4.4203e-05
|
|
|
MTS
|
[NCBI]
|
4.39295e-05
|
|
|
VEGF
|
[NCBI]
|
4.30372e-05
|
|
|
INAD1
|
[NCBI]
|
4.20821e-05
|
|
|
AEZ
|
[NCBI]
|
4.20821e-05
|
|
|
CDS
|
[NCBI]
|
4.037e-05
|
|
|
pick disease of brain
|
[NCBI]
|
4.037e-05
|
|
|
alexander disease
|
[NCBI]
|
4.037e-05
|
|
|
SSBP2
|
[NCBI]
|
3.8856e-05
|
|
|
PARK2
|
[NCBI]
|
3.8805e-05
|
|
|
ASPS
|
[NCBI]
|
3.72867e-05
|
|
|
fabry disease
|
[NCBI]
|
3.63251e-05
|
|
|
niemann-pick disease, type b
|
[NCBI]
|
3.58899e-05
|
|
|
gm1-gangliosidosis, type iii
|
[NCBI]
|
3.58899e-05
|
|
|
PI12
|
[NCBI]
|
3.50959e-05
|
|
|
CLN8
|
[NCBI]
|
3.50959e-05
|
|
|
ABCD1
|
[NCBI]
|
3.47829e-05
|
|
|
TNF
|
[NCBI]
|
3.4612e-05
|
|
|
carnitine palmitoyltransferase ii deficiency, late-onset
|
[NCBI]
|
3.45762e-05
|
|
|
TGD
|
[NCBI]
|
3.45762e-05
|
|
|
PARK2
|
[NCBI]
|
3.45762e-05
|
|
|
SEDC
|
[NCBI]
|
3.45762e-05
|
|
|
thrombocythemia, essential
|
[NCBI]
|
3.33371e-05
|
|
|
infantile sialic acid storage disorder
|
[NCBI]
|
3.10554e-05
|
|
|
ehlers-danlos syndrome, type iv, autosomal dominant
|
[NCBI]
|
3.10554e-05
|
|
|
TRAK1
|
[NCBI]
|
3.08454e-05
|
|
|
ATG7
|
[NCBI]
|
3.08454e-05
|
|
|
jtv1 gene
|
[NCBI]
|
3.08454e-05
|
|
|
SNCAIP
|
[NCBI]
|
3.08454e-05
|
|
|
EIF2C1
|
[NCBI]
|
2.94035e-05
|
|
|
TTID
|
[NCBI]
|
2.82058e-05
|
|
|
NGFB
|
[NCBI]
|
2.81707e-05
|
|
|
PABPN1
|
[NCBI]
|
2.71816e-05
|
|
|
CCS
|
[NCBI]
|
2.71816e-05
|
|
|
CLC
|
[NCBI]
|
2.62872e-05
|
|
|
tyrosine transaminase deficiency
|
[NCBI]
|
2.62872e-05
|
|
|
APC
|
[NCBI]
|
2.57923e-05
|
|
|
SFTPC
|
[NCBI]
|
2.54935e-05
|
|
|
ATXN3
|
[NCBI]
|
2.54935e-05
|
|
|
MCOLN1
|
[NCBI]
|
2.54935e-05
|
|
|
CHAC
|
[NCBI]
|
2.54259e-05
|
|
|
TSD
|
[NCBI]
|
2.48258e-05
|
|
|
ANXA2
|
[NCBI]
|
2.47803e-05
|
|
|
farber lipogranulomatosis
|
[NCBI]
|
2.47803e-05
|
|
|
UCP1
|
[NCBI]
|
2.47394e-05
|
|
|
EGF
|
[NCBI]
|
2.45023e-05
|
|
|
PRPH
|
[NCBI]
|
2.41329e-05
|
|
|
oncogene dj1
|
[NCBI]
|
2.41329e-05
|
|
|
UBB
|
[NCBI]
|
2.41329e-05
|
|
|
PQBP1
|
[NCBI]
|
2.35402e-05
|
|
|
EIF2C2
|
[NCBI]
|
2.35402e-05
|
|
|
SORBS1
|
[NCBI]
|
2.35402e-05
|
|
|
AP3B1
|
[NCBI]
|
2.35402e-05
|
|
|
ATG5
|
[NCBI]
|
2.29938e-05
|
|
|
NEFL
|
[NCBI]
|
2.29938e-05
|
|
|
PXMP3
|
[NCBI]
|
2.24871e-05
|
|
|
ACTB
|
[NCBI]
|
2.24871e-05
|
|
|
HHF1
|
[NCBI]
|
2.24171e-05
|
|
|
CRYAA
|
[NCBI]
|
2.20148e-05
|
|
|
TPM3
|
[NCBI]
|
2.15726e-05
|
|
|
HBA2
|
[NCBI]
|
2.11569e-05
|
|
|
ACTA1
|
[NCBI]
|
2.11569e-05
|
|
|
SLOS
|
[NCBI]
|
2.11368e-05
|
|
|
MAN2B1
|
[NCBI]
|
2.07648e-05
|
|
|
mannosidosis, alpha b, lysosomal
|
[NCBI]
|
2.04499e-05
|
|
|
TGM2
|
[NCBI]
|
2.03937e-05
|
|
|
GALC
|
[NCBI]
|
1.93875e-05
|
|
|
MPL
|
[NCBI]
|
1.93875e-05
|
|
|
LRRK2
|
[NCBI]
|
1.93875e-05
|
|
|
HSPA1A
|
[NCBI]
|
1.93875e-05
|
|
|
CPM
|
[NCBI]
|
1.90824e-05
|
|
|
ARSB
|
[NCBI]
|
1.87904e-05
|
|
|
HSPB1
|
[NCBI]
|
1.87904e-05
|
|
|
HDAC4
|
[NCBI]
|
1.87904e-05
|
|
|
CRYAB
|
[NCBI]
|
1.87904e-05
|
|
|
MYD88
|
[NCBI]
|
1.87904e-05
|
|
|
DM2
|
[NCBI]
|
1.86858e-05
|
|
|
GFAP
|
[NCBI]
|
1.83373e-05
|
|
|
CEACAM5
|
[NCBI]
|
1.70508e-05
|
|
|
HEXB
|
[NCBI]
|
1.70375e-05
|
|
|
NPY
|
[NCBI]
|
1.691e-05
|
|
|
IGF1
|
[NCBI]
|
1.62092e-05
|
|
|
DSTN
|
[NCBI]
|
1.54729e-05
|
|
|
AKT1
|
[NCBI]
|
1.49702e-05
|
|
|
RIPK1
|
[NCBI]
|
1.49702e-05
|
|
|
wolman disease
|
[NCBI]
|
1.49702e-05
|
|
|
adrenoleukodystrophy, autosomal neonatal form
|
[NCBI]
|
1.47622e-05
|
|
|
WT1
|
[NCBI]
|
1.46553e-05
|
|
|
GBA
|
[NCBI]
|
1.45034e-05
|
|
|
HEXA
|
[NCBI]
|
1.36603e-05
|
|
|
TBP
|
[NCBI]
|
1.29157e-05
|
|
|
TD1
|
[NCBI]
|
1.27596e-05
|
|
|
LOX
|
[NCBI]
|
1.2464e-05
|
|
|
HBA1
|
[NCBI]
|
1.2356e-05
|
|
|
UCP3
|
[NCBI]
|
1.09293e-05
|
|
|
AQP1
|
[NCBI]
|
1.05996e-05
|
|
|
AFP
|
[NCBI]
|
9.78902e-06
|
|
|
GUSB
|
[NCBI]
|
9.57228e-06
|
|
|
NPC1
|
[NCBI]
|
9.51427e-06
|
|
|
SCA1
|
[NCBI]
|
9.51427e-06
|
|
|
VIP
|
[NCBI]
|
9.27322e-06
|
|
|
UCP2
|
[NCBI]
|
9.18247e-06
|
|
|
EGFR
|
[NCBI]
|
7.81125e-06
|
|
|
FGFR3
|
[NCBI]
|
6.62839e-06
|
|
|
WT1
|
[NCBI]
|
5.81531e-06
|
|
|
TS
|
[NCBI]
|
5.48904e-06
|
|
|
GAPDH
|
[NCBI]
|
5.15813e-06
|
|
|
COMP
|
[NCBI]
|
4.9523e-06
|
|
|
TH
|
[NCBI]
|
4.81248e-06
|
|
|
ACHE
|
[NCBI]
|
4.47754e-06
|
|
|
CHAT
|
[NCBI]
|
4.08203e-06
|
|
|
AVP
|
[NCBI]
|
2.9862e-06
|
|
|
PMD
|
[NCBI]
|
2.87807e-06
|
|
|
lymphoma, non-hodgkin, familial
|
[NCBI]
|
2.66343e-06
|
|
|
TTR
|
[NCBI]
|
2.02322e-06
|
|
|
BDNF
|
[NCBI]
|
1.90164e-06
|
|
|
KSS
|
[NCBI]
|
1.81196e-06
|
|
|
AD
|
[NCBI]
|
1.70951e-06
|
|
|
CJD
|
[NCBI]
|
1.68674e-06
|
|
|
HPS
|
[NCBI]
|
1.65133e-06
|
|
|
COMT
|
[NCBI]
|
1.41614e-06
|
|
|
KLK3
|
[NCBI]
|
1.35453e-06
|
|
|
NPPA
|
[NCBI]
|
1.24353e-06
|
|
|
APOB
|
[NCBI]
|
1.0181e-06
|
|
|
APOE
|
[NCBI]
|
9.33961e-07
|
|
|
MPO
|
[NCBI]
|
8.32859e-07
|
|
|
dystrophia myotonica 1
|
[NCBI]
|
3.99163e-07
|
|
|
CFTR
|
[NCBI]
|
1.22373e-07
|
|
|
TG
|
[NCBI]
|
1.2034e-07
|
|
|
DHFR
|
[NCBI]
|
4.52679e-08
|
|
|
GDNF
|
[NCBI]
|
3.51116e-08
|
|
|
GNRH1
|
[NCBI]
|
3.33248e-08
|
|
|
GIST
|
[NCBI]
|
2.9557e-08
|
|
|
PCNA
|
[NCBI]
|
9.81754e-11
|
|