|
OMIM |
Link |
Information gain |
01 |
|
auditory neuropathy, autosomal dominant, 1
|
[NCBI]
|
0.00204506
|
|
|
SPS
|
[NCBI]
|
0.00174099
|
|
|
MBS
|
[NCBI]
|
0.00174099
|
|
|
SPG32
|
[NCBI]
|
0.00123198
|
|
|
TH
|
[NCBI]
|
0.00105153
|
|
|
EPV
|
[NCBI]
|
0.000921898
|
|
|
PN
|
[NCBI]
|
0.000921898
|
|
|
laryngeal abductor paralysis
|
[NCBI]
|
0.000921898
|
|
|
JBTS1
|
[NCBI]
|
0.000895083
|
|
|
LS
|
[NCBI]
|
0.000848388
|
|
|
basilar impression, primary
|
[NCBI]
|
0.000805425
|
|
|
auditory neuropathy, x-linked, 1, with peripheral sensory neuropathy
|
[NCBI]
|
0.000805425
|
|
|
PSNP2
|
[NCBI]
|
0.000730105
|
|
|
lethal congenital contracture syndrome 1
|
[NCBI]
|
0.000730105
|
|
|
CHAT
|
[NCBI]
|
0.000683394
|
|
|
cerebellar ataxia and hypogonadotropic hypogonadism
|
[NCBI]
|
0.000674332
|
|
|
JBTS2
|
[NCBI]
|
0.000630071
|
|
|
IOSCA
|
[NCBI]
|
0.000630071
|
|
|
HCFP1
|
[NCBI]
|
0.000593416
|
|
|
acroosteolysis with osteoporosis and changes in skull and mandible
|
[NCBI]
|
0.000534963
|
|
|
ABSD
|
[NCBI]
|
0.000491166
|
|
|
LBSL
|
[NCBI]
|
0.000427523
|
|
|
ALD
|
[NCBI]
|
0.00041527
|
|
|
alexander disease
|
[NCBI]
|
0.000401366
|
|
|
behcet syndrome
|
[NCBI]
|
0.000393353
|
|
|
chiari malformation type i
|
[NCBI]
|
0.000381061
|
|
|
JBTS3
|
[NCBI]
|
0.000356073
|
|
|
PNMT
|
[NCBI]
|
0.000346598
|
|
|
coffin-siris syndrome
|
[NCBI]
|
0.000329229
|
|
|
DWS
|
[NCBI]
|
0.000320384
|
|
|
autonomic control, congenital failure of
|
[NCBI]
|
0.000300759
|
|
|
pena-shokeir syndrome, type i
|
[NCBI]
|
0.000281667
|
|
|
MJD
|
[NCBI]
|
0.000278291
|
|
|
ACHE
|
[NCBI]
|
0.000275274
|
|
|
palatopharyngeal incompetence
|
[NCBI]
|
0.000261952
|
|
|
HGPPS
|
[NCBI]
|
0.000232186
|
|
|
EKD1
|
[NCBI]
|
0.000223329
|
|
|
LIS2
|
[NCBI]
|
0.00021941
|
|
|
gliosis, familial progressive subcortical
|
[NCBI]
|
0.00021941
|
|
|
sudden infant death syndrome
|
[NCBI]
|
0.000186187
|
|
|
EGF
|
[NCBI]
|
0.000184106
|
|
|
hypotonia, congenital nystagmus, ataxia, and abnormal auditory brainstem responses
|
[NCBI]
|
0.000163543
|
|
|
necrotizing encephalomyelopathy, subacute, of leigh, adult
|
[NCBI]
|
0.000163543
|
|
|
PD
|
[NCBI]
|
0.000159915
|
|
|
CRH
|
[NCBI]
|
0.000136662
|
|
|
DYT1
|
[NCBI]
|
0.000134146
|
|
|
JBTS4
|
[NCBI]
|
0.000124353
|
|
|
CCK
|
[NCBI]
|
0.000118975
|
|
|
NPY
|
[NCBI]
|
0.000117857
|
|
|
GFAP
|
[NCBI]
|
0.000116607
|
|
|
CSA
|
[NCBI]
|
0.000112951
|
|
|
SMAX1
|
[NCBI]
|
0.000111906
|
|
|
SCA2
|
[NCBI]
|
0.000109886
|
|
|
malonyl-coa decarboxylase deficiency
|
[NCBI]
|
0.000109617
|
|
|
VEGF
|
[NCBI]
|
0.000102272
|
|
|
ornithine transcarbamylase deficiency, hyperammonemia due to
|
[NCBI]
|
0.000100429
|
|
|
melanosis, neurocutaneous
|
[NCBI]
|
0.000100077
|
|
|
c-like syndrome
|
[NCBI]
|
0.000100077
|
|
|
branchial myoclonus with spastic paraparesis and cerebellar ataxia
|
[NCBI]
|
0.000100077
|
|
|
leigh syndrome, x-linked
|
[NCBI]
|
0.000100077
|
|
|
valproate embryopathy, susceptibility to
|
[NCBI]
|
9.30065e-05
|
|
|
SANDO
|
[NCBI]
|
9.30065e-05
|
|
|
AHI1
|
[NCBI]
|
8.83567e-05
|
|
|
NN
|
[NCBI]
|
8.73896e-05
|
|
|
polymicrogyria, bilateral frontoparietal
|
[NCBI]
|
8.73896e-05
|
|
|
peroxisomal acyl-coa oxidase deficiency
|
[NCBI]
|
8.27335e-05
|
|
|
myoclonic epilepsy, neonatal, with suppression-burst pattern
|
[NCBI]
|
8.27335e-05
|
|
|
HOXA1
|
[NCBI]
|
8.25206e-05
|
|
|
CVS
|
[NCBI]
|
7.87601e-05
|
|
|
DFNA9
|
[NCBI]
|
7.87601e-05
|
|
|
CMT4B1
|
[NCBI]
|
7.87601e-05
|
|
|
AD
|
[NCBI]
|
7.44372e-05
|
|
|
PARK8
|
[NCBI]
|
7.22308e-05
|
|
|
SCA10
|
[NCBI]
|
7.22308e-05
|
|
|
PSNP1
|
[NCBI]
|
6.94809e-05
|
|
|
canavan disease
|
[NCBI]
|
6.94809e-05
|
|
|
severe combined immunodeficiency with sensitivity to ionizing radiation
|
[NCBI]
|
6.69897e-05
|
|
|
mannosidosis, beta a, lysosomal
|
[NCBI]
|
6.69897e-05
|
|
|
carbamoyl phosphate synthetase i deficiency, hyperammonemia due to
|
[NCBI]
|
6.69897e-05
|
|
|
leber optic atrophy
|
[NCBI]
|
6.49146e-05
|
|
|
alpers diffuse degeneration of cerebral gray matter with hepatic cirrhosis
|
[NCBI]
|
6.4714e-05
|
|
|
SLC6A4
|
[NCBI]
|
6.33345e-05
|
|
|
GCE
|
[NCBI]
|
6.26205e-05
|
|
|
PDV
|
[NCBI]
|
6.26205e-05
|
|
|
NOVA1
|
[NCBI]
|
6.00611e-05
|
|
|
NBIA1
|
[NCBI]
|
5.88809e-05
|
|
|
pick disease of brain
|
[NCBI]
|
5.88809e-05
|
|
|
amyloidosis vi
|
[NCBI]
|
5.85203e-05
|
|
|
FTLDU
|
[NCBI]
|
5.71971e-05
|
|
|
DLB
|
[NCBI]
|
5.56176e-05
|
|
|
usher syndrome, type i
|
[NCBI]
|
5.56176e-05
|
|
|
SPG3A
|
[NCBI]
|
5.56176e-05
|
|
|
WFS1
|
[NCBI]
|
5.41308e-05
|
|
|
KSS
|
[NCBI]
|
5.39352e-05
|
|
|
PARK2
|
[NCBI]
|
5.2727e-05
|
|
|
PYY
|
[NCBI]
|
5.01915e-05
|
|
|
MAG
|
[NCBI]
|
4.92223e-05
|
|
|
MAP2
|
[NCBI]
|
4.87688e-05
|
|
|
myoclonic epilepsy of unverricht and lundborg
|
[NCBI]
|
4.77919e-05
|
|
|
glycogen storage disease iv
|
[NCBI]
|
4.77919e-05
|
|
|
MBP
|
[NCBI]
|
4.73577e-05
|
|
|
PFIC1
|
[NCBI]
|
4.66992e-05
|
|
|
OCA1A
|
[NCBI]
|
4.66992e-05
|
|
|
SOD1
|
[NCBI]
|
4.475e-05
|
|
|
mitochondrial complex iv deficiency
|
[NCBI]
|
4.36903e-05
|
|
|
PRLH
|
[NCBI]
|
4.3219e-05
|
|
|
cerebrotendinous xanthomatosis
|
[NCBI]
|
4.27663e-05
|
|
|
CHAC
|
[NCBI]
|
4.27663e-05
|
|
|
NF2
|
[NCBI]
|
4.27663e-05
|
|
|
KCNJ14
|
[NCBI]
|
4.21103e-05
|
|
|
CMTX1
|
[NCBI]
|
4.10207e-05
|
|
|
EGFR
|
[NCBI]
|
3.74612e-05
|
|
|
neuroblastoma
|
[NCBI]
|
3.64608e-05
|
|
|
SCA7
|
[NCBI]
|
3.57831e-05
|
|
|
ABL
|
[NCBI]
|
3.57831e-05
|
|
|
GRP
|
[NCBI]
|
3.53268e-05
|
|
|
CMT1B
|
[NCBI]
|
3.44871e-05
|
|
|
CCM
|
[NCBI]
|
3.44871e-05
|
|
|
AMC
|
[NCBI]
|
3.38669e-05
|
|
|
panencephalitis, subacute sclerosing
|
[NCBI]
|
3.30634e-05
|
|
|
BCHE
|
[NCBI]
|
3.26512e-05
|
|
|
KCNC4
|
[NCBI]
|
3.21474e-05
|
|
|
UHMK1
|
[NCBI]
|
3.21474e-05
|
|
|
FGF22
|
[NCBI]
|
3.21474e-05
|
|
|
EFR3A
|
[NCBI]
|
3.21474e-05
|
|
|
PNMA2
|
[NCBI]
|
3.21474e-05
|
|
|
respiratory rhythmicity in sleep
|
[NCBI]
|
3.21474e-05
|
|
|
FCMD
|
[NCBI]
|
3.21065e-05
|
|
|
GDNF
|
[NCBI]
|
3.14492e-05
|
|
|
VIM
|
[NCBI]
|
3.05657e-05
|
|
|
SLE
|
[NCBI]
|
3.02756e-05
|
|
|
ALS1
|
[NCBI]
|
2.99665e-05
|
|
|
MTND1
|
[NCBI]
|
2.89273e-05
|
|
|
CJD
|
[NCBI]
|
2.85529e-05
|
|
|
DARS2
|
[NCBI]
|
2.83999e-05
|
|
|
NRXN3
|
[NCBI]
|
2.83999e-05
|
|
|
BARHL1
|
[NCBI]
|
2.83999e-05
|
|
|
PRL
|
[NCBI]
|
2.75997e-05
|
|
|
SLS
|
[NCBI]
|
2.75715e-05
|
|
|
EPO
|
[NCBI]
|
2.74247e-05
|
|
|
KCNC1
|
[NCBI]
|
2.59736e-05
|
|
|
NRXN2
|
[NCBI]
|
2.59736e-05
|
|
|
UBE2L3
|
[NCBI]
|
2.59736e-05
|
|
|
SSTR3
|
[NCBI]
|
2.59736e-05
|
|
|
GMFB
|
[NCBI]
|
2.59736e-05
|
|
|
osteogenesis imperfecta, type i
|
[NCBI]
|
2.58436e-05
|
|
|
HCRT
|
[NCBI]
|
2.56038e-05
|
|
|
CHRNB3
|
[NCBI]
|
2.41747e-05
|
|
|
HTR4
|
[NCBI]
|
2.41747e-05
|
|
|
PTPRZ1
|
[NCBI]
|
2.41747e-05
|
|
|
SLC6A5
|
[NCBI]
|
2.41747e-05
|
|
|
GLRA2
|
[NCBI]
|
2.41747e-05
|
|
|
NHLH1
|
[NCBI]
|
2.41747e-05
|
|
|
SCA1
|
[NCBI]
|
2.38819e-05
|
|
|
temporal arteritis
|
[NCBI]
|
2.37903e-05
|
|
|
SLC4A3
|
[NCBI]
|
2.27455e-05
|
|
|
DNM1
|
[NCBI]
|
2.27455e-05
|
|
|
CNR2
|
[NCBI]
|
2.27455e-05
|
|
|
GAL
|
[NCBI]
|
2.23439e-05
|
|
|
NMU
|
[NCBI]
|
2.18499e-05
|
|
|
ACH
|
[NCBI]
|
2.17733e-05
|
|
|
GLUD2
|
[NCBI]
|
2.15604e-05
|
|
|
SLC6A2
|
[NCBI]
|
2.15604e-05
|
|
|
UNC5C
|
[NCBI]
|
2.15604e-05
|
|
|
GBE1
|
[NCBI]
|
2.15604e-05
|
|
|
NRXN1
|
[NCBI]
|
2.05488e-05
|
|
|
NTS
|
[NCBI]
|
2.05488e-05
|
|
|
PITPN
|
[NCBI]
|
2.05488e-05
|
|
|
PHOX2B
|
[NCBI]
|
2.05488e-05
|
|
|
MLYCD
|
[NCBI]
|
2.05488e-05
|
|
|
GRIA4
|
[NCBI]
|
2.05488e-05
|
|
|
TPH2
|
[NCBI]
|
1.96671e-05
|
|
|
CNTFR
|
[NCBI]
|
1.96671e-05
|
|
|
FREQ
|
[NCBI]
|
1.96671e-05
|
|
|
SLC2A3
|
[NCBI]
|
1.8886e-05
|
|
|
EPHA4
|
[NCBI]
|
1.8886e-05
|
|
|
CSF2RB
|
[NCBI]
|
1.8886e-05
|
|
|
SCN2A
|
[NCBI]
|
1.81855e-05
|
|
|
GABRG2
|
[NCBI]
|
1.75507e-05
|
|
|
NDN
|
[NCBI]
|
1.69706e-05
|
|
|
COCH
|
[NCBI]
|
1.64369e-05
|
|
|
MC3R
|
[NCBI]
|
1.64369e-05
|
|
|
ARRB2
|
[NCBI]
|
1.64369e-05
|
|
|
PPP3CA
|
[NCBI]
|
1.59429e-05
|
|
|
HSF1
|
[NCBI]
|
1.59429e-05
|
|
|
CNR1
|
[NCBI]
|
1.54832e-05
|
|
|
GLUD1
|
[NCBI]
|
1.50537e-05
|
|
|
PMD
|
[NCBI]
|
1.40004e-05
|
|
|
MAP4
|
[NCBI]
|
1.39127e-05
|
|
|
IL1B
|
[NCBI]
|
1.29444e-05
|
|
|
HSPA1A
|
[NCBI]
|
1.29444e-05
|
|
|
PNPLA6
|
[NCBI]
|
1.24753e-05
|
|
|
krabbe disease
|
[NCBI]
|
1.22928e-05
|
|
|
SLC17A6
|
[NCBI]
|
1.1849e-05
|
|
|
RBP3
|
[NCBI]
|
1.13666e-05
|
|
|
AFP
|
[NCBI]
|
1.13409e-05
|
|
|
POLG
|
[NCBI]
|
1.1139e-05
|
|
|
GRIN1
|
[NCBI]
|
1.1139e-05
|
|
|
REN
|
[NCBI]
|
1.09198e-05
|
|
|
DRPLA
|
[NCBI]
|
1.06325e-05
|
|
|
DNAJC5
|
[NCBI]
|
1.03065e-05
|
|
|
VLDLR
|
[NCBI]
|
1.01154e-05
|
|
|
FGF10
|
[NCBI]
|
9.57736e-06
|
|
|
PDHA1
|
[NCBI]
|
9.57736e-06
|
|
|
MC4R
|
[NCBI]
|
9.57736e-06
|
|
|
POMC
|
[NCBI]
|
9.48856e-06
|
|
|
SLC1A2
|
[NCBI]
|
9.40863e-06
|
|
|
RTT
|
[NCBI]
|
9.31852e-06
|
|
|
DMD
|
[NCBI]
|
8.52499e-06
|
|
|
RELN
|
[NCBI]
|
8.49043e-06
|
|
|
PARK2
|
[NCBI]
|
8.35119e-06
|
|
|
BIRC1
|
[NCBI]
|
8.21543e-06
|
|
|
MAP1B
|
[NCBI]
|
7.70438e-06
|
|
|
PVR
|
[NCBI]
|
7.58397e-06
|
|
|
PCNA
|
[NCBI]
|
7.5208e-06
|
|
|
SLC18A2
|
[NCBI]
|
7.35121e-06
|
|
|
SNCA
|
[NCBI]
|
7.12852e-06
|
|
|
ABCD1
|
[NCBI]
|
6.61136e-06
|
|
|
RET
|
[NCBI]
|
6.41876e-06
|
|
|
BDNF
|
[NCBI]
|
5.88984e-06
|
|
|
ADA
|
[NCBI]
|
5.78654e-06
|
|
|
ADCYAP1
|
[NCBI]
|
5.75773e-06
|
|
|
AVP
|
[NCBI]
|
5.57137e-06
|
|
|
CLU
|
[NCBI]
|
5.48019e-06
|
|
|
ADM
|
[NCBI]
|
5.38799e-06
|
|
|
SOD2
|
[NCBI]
|
5.25731e-06
|
|
|
OPRM1
|
[NCBI]
|
4.76969e-06
|
|
|
G6PD
|
[NCBI]
|
4.72493e-06
|
|
|
FGF1
|
[NCBI]
|
4.39485e-06
|
|
|
VIP
|
[NCBI]
|
4.09662e-06
|
|
|
GUSB
|
[NCBI]
|
4.05246e-06
|
|
|
MAPT
|
[NCBI]
|
3.89216e-06
|
|
|
GNRH1
|
[NCBI]
|
3.7106e-06
|
|
|
PC
|
[NCBI]
|
3.68876e-06
|
|
|
CALCRL
|
[NCBI]
|
3.27003e-06
|
|
|
GHRH
|
[NCBI]
|
3.12656e-06
|
|
|
BMP4
|
[NCBI]
|
3.01749e-06
|
|
|
AR
|
[NCBI]
|
2.89781e-06
|
|
|
CAT
|
[NCBI]
|
2.81438e-06
|
|
|
DBI
|
[NCBI]
|
2.53246e-06
|
|
|
BWS
|
[NCBI]
|
2.31602e-06
|
|
|
SLC6A3
|
[NCBI]
|
2.29522e-06
|
|
|
GAPDH
|
[NCBI]
|
1.88472e-06
|
|
|
FGFR3
|
[NCBI]
|
1.84237e-06
|
|
|
NGFR
|
[NCBI]
|
1.667e-06
|
|
|
FAAH
|
[NCBI]
|
1.64309e-06
|
|
|
XDH
|
[NCBI]
|
1.59424e-06
|
|
|
PMP22
|
[NCBI]
|
1.31587e-06
|
|
|
AT
|
[NCBI]
|
1.30377e-06
|
|
|
NF1
|
[NCBI]
|
1.25697e-06
|
|
|
CNTF
|
[NCBI]
|
1.09981e-06
|
|
|
SST
|
[NCBI]
|
1.09209e-06
|
|
|
SLC18A3
|
[NCBI]
|
9.59391e-07
|
|
|
MG
|
[NCBI]
|
7.10484e-07
|
|
|
OXT
|
[NCBI]
|
6.90463e-07
|
|
|
MDD
|
[NCBI]
|
6.22105e-07
|
|
|
FGF7
|
[NCBI]
|
4.8762e-07
|
|
|
SPP1
|
[NCBI]
|
3.7707e-07
|
|
|
CDK5
|
[NCBI]
|
2.76071e-07
|
|
|
COMT
|
[NCBI]
|
2.13602e-07
|
|
|
NPPA
|
[NCBI]
|
9.36965e-08
|
|
|
PMCH
|
[NCBI]
|
6.3955e-08
|
|
|
HD
|
[NCBI]
|
4.49484e-08
|
|
|
NGFB
|
[NCBI]
|
3.39667e-09
|
|