|
OMIM |
Link |
Information gain |
01 |
|
hydroxykynureninuria
|
[NCBI]
|
0.0128356
|
|
|
tryptophanuria with dwarfism
|
[NCBI]
|
0.00240735
|
|
|
iminoglycinuria
|
[NCBI]
|
0.00122704
|
|
|
hartnup disorder
|
[NCBI]
|
0.00051608
|
|
|
hypertryptophanemia, familial
|
[NCBI]
|
0.000439305
|
|
|
pellagra-like syndrome
|
[NCBI]
|
0.000292648
|
|
|
GTS
|
[NCBI]
|
0.0002165
|
|
|
macular dystrophy, vitelliform, adult-onset
|
[NCBI]
|
0.000205765
|
|
|
MDD
|
[NCBI]
|
0.000200923
|
|
|
INDO
|
[NCBI]
|
0.000199017
|
|
|
bladder cancer
|
[NCBI]
|
0.000165867
|
|
|
PRL
|
[NCBI]
|
0.000161767
|
|
|
pfeiffer syndrome
|
[NCBI]
|
0.000155788
|
|
|
ADRB3
|
[NCBI]
|
0.000149709
|
|
|
indolylacroyl glycinuria with mental retardation
|
[NCBI]
|
0.000146213
|
|
|
blue diaper syndrome
|
[NCBI]
|
0.00011466
|
|
|
LDHCP
|
[NCBI]
|
0.000102773
|
|
|
aminoadipic aciduria
|
[NCBI]
|
0.000102773
|
|
|
SLE
|
[NCBI]
|
9.49114e-05
|
|
|
currarino syndrome
|
[NCBI]
|
8.93457e-05
|
|
|
OKS
|
[NCBI]
|
8.93457e-05
|
|
|
EDM4
|
[NCBI]
|
8.93457e-05
|
|
|
IDD
|
[NCBI]
|
8.93457e-05
|
|
|
RP7
|
[NCBI]
|
8.93457e-05
|
|
|
DA2B
|
[NCBI]
|
8.47943e-05
|
|
|
myopathy, myosin storage
|
[NCBI]
|
8.47943e-05
|
|
|
SANDO
|
[NCBI]
|
7.77861e-05
|
|
|
OCD1
|
[NCBI]
|
7.77861e-05
|
|
|
fundus albipunctatus
|
[NCBI]
|
7.49672e-05
|
|
|
formiminotransferase deficiency
|
[NCBI]
|
7.02216e-05
|
|
|
PALS
|
[NCBI]
|
7.02216e-05
|
|
|
n-acetylglutamate synthase deficiency
|
[NCBI]
|
7.02216e-05
|
|
|
apert syndrome
|
[NCBI]
|
7.02216e-05
|
|
|
TS
|
[NCBI]
|
6.94507e-05
|
|
|
AHR
|
[NCBI]
|
6.68288e-05
|
|
|
cystathioninuria
|
[NCBI]
|
6.46025e-05
|
|
|
alexander disease
|
[NCBI]
|
6.46025e-05
|
|
|
leprosy, susceptibility to
|
[NCBI]
|
6.46025e-05
|
|
|
SPG3A
|
[NCBI]
|
6.30105e-05
|
|
|
GEFS+
|
[NCBI]
|
6.15273e-05
|
|
|
FGFR2
|
[NCBI]
|
5.9919e-05
|
|
|
CCK
|
[NCBI]
|
5.9734e-05
|
|
|
MEN2B
|
[NCBI]
|
5.88351e-05
|
|
|
RCDP1
|
[NCBI]
|
5.76055e-05
|
|
|
glucose transport defect, blood-brain barrier
|
[NCBI]
|
5.76055e-05
|
|
|
EGF
|
[NCBI]
|
5.71454e-05
|
|
|
dyschromatosis symmetrica hereditaria 1
|
[NCBI]
|
5.53399e-05
|
|
|
hemoglobin--variants for which the chain carrying the mutation is unknown or uncertain
|
[NCBI]
|
5.42915e-05
|
|
|
QPRT
|
[NCBI]
|
5.36161e-05
|
|
|
phenylketonuria
|
[NCBI]
|
5.35003e-05
|
|
|
refsum disease, infantile form
|
[NCBI]
|
5.23385e-05
|
|
|
PBD
|
[NCBI]
|
4.97116e-05
|
|
|
granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type i
|
[NCBI]
|
4.89045e-05
|
|
|
DHFR
|
[NCBI]
|
4.84301e-05
|
|
|
MM
|
[NCBI]
|
4.52829e-05
|
|
|
VMD
|
[NCBI]
|
4.46294e-05
|
|
|
glycogen storage disease vii
|
[NCBI]
|
4.22073e-05
|
|
|
MB
|
[NCBI]
|
4.20305e-05
|
|
|
citrullinemia, classic
|
[NCBI]
|
4.16447e-05
|
|
|
PDS
|
[NCBI]
|
4.10974e-05
|
|
|
MG
|
[NCBI]
|
3.97117e-05
|
|
|
adrenoleukodystrophy, autosomal neonatal form
|
[NCBI]
|
3.95406e-05
|
|
|
CTNS
|
[NCBI]
|
3.80976e-05
|
|
|
CCD
|
[NCBI]
|
3.71915e-05
|
|
|
ACMSD
|
[NCBI]
|
3.57999e-05
|
|
|
RA
|
[NCBI]
|
3.4935e-05
|
|
|
porphyria, acute intermittent
|
[NCBI]
|
3.28531e-05
|
|
|
MLP
|
[NCBI]
|
3.28241e-05
|
|
|
ADK
|
[NCBI]
|
3.14201e-05
|
|
|
CSTB
|
[NCBI]
|
3.10971e-05
|
|
|
PRPH2
|
[NCBI]
|
3.04801e-05
|
|
|
porphyria variegata
|
[NCBI]
|
2.99264e-05
|
|
|
CTLA4
|
[NCBI]
|
2.83282e-05
|
|
|
CDA
|
[NCBI]
|
2.78546e-05
|
|
|
TNF
|
[NCBI]
|
2.71755e-05
|
|
|
MYH7
|
[NCBI]
|
2.65539e-05
|
|
|
PWP2H
|
[NCBI]
|
2.55878e-05
|
|
|
TTF1
|
[NCBI]
|
2.55878e-05
|
|
|
KYNU
|
[NCBI]
|
2.55878e-05
|
|
|
DBA
|
[NCBI]
|
2.54391e-05
|
|
|
INSL3
|
[NCBI]
|
2.52229e-05
|
|
|
SLC2A2
|
[NCBI]
|
2.40491e-05
|
|
|
PRKACA
|
[NCBI]
|
2.37749e-05
|
|
|
glycolipid transfer protein
|
[NCBI]
|
2.37749e-05
|
|
|
SYNGR1
|
[NCBI]
|
2.37749e-05
|
|
|
EIF2AK4
|
[NCBI]
|
2.37749e-05
|
|
|
AHO
|
[NCBI]
|
2.3675e-05
|
|
|
SOCS3
|
[NCBI]
|
2.35859e-05
|
|
|
ZS
|
[NCBI]
|
2.26611e-05
|
|
|
TOPORS
|
[NCBI]
|
2.24285e-05
|
|
|
COTL1
|
[NCBI]
|
2.1357e-05
|
|
|
KPNA1
|
[NCBI]
|
2.1357e-05
|
|
|
TTR
|
[NCBI]
|
2.12046e-05
|
|
|
CIB1
|
[NCBI]
|
2.0467e-05
|
|
|
AADAT
|
[NCBI]
|
2.0467e-05
|
|
|
TPM2
|
[NCBI]
|
2.0467e-05
|
|
|
COL9A3
|
[NCBI]
|
1.97061e-05
|
|
|
GNB2L1
|
[NCBI]
|
1.97061e-05
|
|
|
IFNAR2
|
[NCBI]
|
1.97061e-05
|
|
|
YAP1
|
[NCBI]
|
1.97061e-05
|
|
|
COL9A2
|
[NCBI]
|
1.90416e-05
|
|
|
ANXA6
|
[NCBI]
|
1.90416e-05
|
|
|
PRG2
|
[NCBI]
|
1.90416e-05
|
|
|
PMD
|
[NCBI]
|
1.89965e-05
|
|
|
NPY
|
[NCBI]
|
1.86257e-05
|
|
|
FCER1A
|
[NCBI]
|
1.84521e-05
|
|
|
PXE
|
[NCBI]
|
1.82406e-05
|
|
|
NPM1
|
[NCBI]
|
1.76854e-05
|
|
|
MED12
|
[NCBI]
|
1.74416e-05
|
|
|
RPL3
|
[NCBI]
|
1.74416e-05
|
|
|
TIMM8A
|
[NCBI]
|
1.70015e-05
|
|
|
USP7
|
[NCBI]
|
1.70015e-05
|
|
|
SF1
|
[NCBI]
|
1.65958e-05
|
|
|
ETF1
|
[NCBI]
|
1.65958e-05
|
|
|
RHO
|
[NCBI]
|
1.63315e-05
|
|
|
SPG3A
|
[NCBI]
|
1.62197e-05
|
|
|
ATP5O
|
[NCBI]
|
1.62197e-05
|
|
|
UCP1
|
[NCBI]
|
1.5922e-05
|
|
|
panencephalitis, subacute sclerosing
|
[NCBI]
|
1.59053e-05
|
|
|
NAGS
|
[NCBI]
|
1.58691e-05
|
|
|
CF
|
[NCBI]
|
1.58323e-05
|
|
|
LPO
|
[NCBI]
|
1.56592e-05
|
|
|
NCF1
|
[NCBI]
|
1.52324e-05
|
|
|
PTH
|
[NCBI]
|
1.50441e-05
|
|
|
CEACAM5
|
[NCBI]
|
1.49601e-05
|
|
|
PFKM
|
[NCBI]
|
1.49414e-05
|
|
|
HR
|
[NCBI]
|
1.49414e-05
|
|
|
NCOA1
|
[NCBI]
|
1.49414e-05
|
|
|
ALOX5
|
[NCBI]
|
1.49414e-05
|
|
|
MYO6
|
[NCBI]
|
1.4405e-05
|
|
|
SLC2A1
|
[NCBI]
|
1.4405e-05
|
|
|
DBI
|
[NCBI]
|
1.43401e-05
|
|
|
IRF1
|
[NCBI]
|
1.39198e-05
|
|
|
APTX
|
[NCBI]
|
1.34771e-05
|
|
|
LCAT
|
[NCBI]
|
1.3401e-05
|
|
|
AMPD1
|
[NCBI]
|
1.32695e-05
|
|
|
LHB
|
[NCBI]
|
1.28785e-05
|
|
|
PRKAR1A
|
[NCBI]
|
1.26939e-05
|
|
|
phenylketonuria ii
|
[NCBI]
|
1.26939e-05
|
|
|
C1NH
|
[NCBI]
|
1.2344e-05
|
|
|
PRODH
|
[NCBI]
|
1.21779e-05
|
|
|
IRF3
|
[NCBI]
|
1.20172e-05
|
|
|
COL10A1
|
[NCBI]
|
1.18616e-05
|
|
|
APOH
|
[NCBI]
|
1.15644e-05
|
|
|
SLC26A4
|
[NCBI]
|
1.14224e-05
|
|
|
POU1F1
|
[NCBI]
|
1.14224e-05
|
|
|
anemia, sideroblastic, x-linked
|
[NCBI]
|
1.12843e-05
|
|
|
APOC2
|
[NCBI]
|
1.12843e-05
|
|
|
NR0B1
|
[NCBI]
|
1.115e-05
|
|
|
SOX9
|
[NCBI]
|
1.08922e-05
|
|
|
coproporphyria
|
[NCBI]
|
1.06474e-05
|
|
|
GFAP
|
[NCBI]
|
1.04924e-05
|
|
|
TLR2
|
[NCBI]
|
1.02639e-05
|
|
|
POLG
|
[NCBI]
|
1.01925e-05
|
|
|
VIP
|
[NCBI]
|
1.00575e-05
|
|
|
CTSC
|
[NCBI]
|
9.87774e-06
|
|
|
GAMT
|
[NCBI]
|
9.77731e-06
|
|
|
PLP1
|
[NCBI]
|
9.39584e-06
|
|
|
ALB
|
[NCBI]
|
9.39341e-06
|
|
|
SERPINA6
|
[NCBI]
|
9.26499e-06
|
|
|
CDH1
|
[NCBI]
|
9.0433e-06
|
|
|
OTC
|
[NCBI]
|
8.95922e-06
|
|
|
EGFR
|
[NCBI]
|
8.82651e-06
|
|
|
F2
|
[NCBI]
|
8.71586e-06
|
|
|
SPTA1
|
[NCBI]
|
8.63754e-06
|
|
|
HBG2
|
[NCBI]
|
8.56055e-06
|
|
|
ITGB3
|
[NCBI]
|
8.33715e-06
|
|
|
FOXP3
|
[NCBI]
|
8.19415e-06
|
|
|
ASL
|
[NCBI]
|
8.0556e-06
|
|
|
VHL
|
[NCBI]
|
7.72705e-06
|
|
|
TLR3
|
[NCBI]
|
7.66419e-06
|
|
|
ANG
|
[NCBI]
|
7.66419e-06
|
|
|
BCHE
|
[NCBI]
|
7.63751e-06
|
|
|
VCP
|
[NCBI]
|
7.54112e-06
|
|
|
SLC6A4
|
[NCBI]
|
7.23789e-06
|
|
|
SRY
|
[NCBI]
|
7.1916e-06
|
|
|
HBG1
|
[NCBI]
|
7.13602e-06
|
|
|
ZFP36
|
[NCBI]
|
7.08115e-06
|
|
|
COL1A2
|
[NCBI]
|
6.9735e-06
|
|
|
AFP
|
[NCBI]
|
6.68147e-06
|
|
|
NMB
|
[NCBI]
|
6.52056e-06
|
|
|
AR
|
[NCBI]
|
6.48401e-06
|
|
|
LMNA
|
[NCBI]
|
6.33414e-06
|
|
|
GNAS
|
[NCBI]
|
6.24403e-06
|
|
|
CJD
|
[NCBI]
|
5.58818e-06
|
|
|
APOE
|
[NCBI]
|
5.5439e-06
|
|
|
MAPT
|
[NCBI]
|
5.51333e-06
|
|
|
MBP
|
[NCBI]
|
5.32944e-06
|
|
|
TLR9
|
[NCBI]
|
5.29738e-06
|
|
|
RNASE3
|
[NCBI]
|
5.01929e-06
|
|
|
INSR
|
[NCBI]
|
4.96293e-06
|
|
|
DDC
|
[NCBI]
|
4.71571e-06
|
|
|
HBA2
|
[NCBI]
|
4.68597e-06
|
|
|
HBB
|
[NCBI]
|
4.47071e-06
|
|
|
HP
|
[NCBI]
|
4.46403e-06
|
|
|
CAT
|
[NCBI]
|
4.17058e-06
|
|
|
FTD
|
[NCBI]
|
4.15783e-06
|
|
|
CHAT
|
[NCBI]
|
4.03195e-06
|
|
|
CASR
|
[NCBI]
|
3.94245e-06
|
|
|
HEMB
|
[NCBI]
|
3.64672e-06
|
|
|
SOD2
|
[NCBI]
|
3.52341e-06
|
|
|
adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency
|
[NCBI]
|
3.41657e-06
|
|
|
NGFB
|
[NCBI]
|
3.39005e-06
|
|
|
EPOR
|
[NCBI]
|
3.35671e-06
|
|
|
LPL
|
[NCBI]
|
3.31873e-06
|
|
|
MPO
|
[NCBI]
|
3.05293e-06
|
|
|
KCNH2
|
[NCBI]
|
2.95155e-06
|
|
|
GRP
|
[NCBI]
|
2.95155e-06
|
|
|
DCK
|
[NCBI]
|
2.91744e-06
|
|
|
ACHE
|
[NCBI]
|
2.57548e-06
|
|
|
TP53
|
[NCBI]
|
2.43788e-06
|
|
|
MAP2
|
[NCBI]
|
1.85452e-06
|
|
|
NR1I2
|
[NCBI]
|
1.77965e-06
|
|
|
PI
|
[NCBI]
|
1.70748e-06
|
|
|
LDLR
|
[NCBI]
|
1.4524e-06
|
|
|
MBL2
|
[NCBI]
|
1.39183e-06
|
|
|
LRP1
|
[NCBI]
|
1.39183e-06
|
|
|
STAR
|
[NCBI]
|
1.36652e-06
|
|
|
GPI
|
[NCBI]
|
1.34986e-06
|
|
|
RASA1
|
[NCBI]
|
1.34986e-06
|
|
|
TF
|
[NCBI]
|
1.3066e-06
|
|
|
GJA1
|
[NCBI]
|
1.28488e-06
|
|
|
VDR
|
[NCBI]
|
1.1337e-06
|
|
|
G6PD
|
[NCBI]
|
8.27098e-07
|
|
|
ADA
|
[NCBI]
|
8.13727e-07
|
|
|
HD
|
[NCBI]
|
6.4479e-07
|
|
|
F3
|
[NCBI]
|
6.14667e-07
|
|
|
TYMS
|
[NCBI]
|
5.23247e-07
|
|
|
ACE
|
[NCBI]
|
5.01216e-07
|
|
|
FA
|
[NCBI]
|
4.86653e-07
|
|
|
TH
|
[NCBI]
|
4.61766e-07
|
|
|
GIP
|
[NCBI]
|
3.45477e-07
|
|
|
CYP1A1
|
[NCBI]
|
2.10696e-07
|
|
|
CRH
|
[NCBI]
|
2.01252e-07
|
|
|
APOB
|
[NCBI]
|
1.77861e-07
|
|
|
EPO
|
[NCBI]
|
1.20134e-07
|
|
|
APC
|
[NCBI]
|
9.17969e-08
|
|
|
SHH
|
[NCBI]
|
8.70259e-08
|
|
|
SLC6A3
|
[NCBI]
|
2.68422e-08
|
|
|
POMC
|
[NCBI]
|
2.2027e-08
|
|
|
XDH
|
[NCBI]
|
1.61437e-08
|
|
|
BDNF
|
[NCBI]
|
7.0447e-09
|
|
|
PTHLH
|
[NCBI]
|
4.63283e-10
|
|