|
OMIM |
Link |
Information gain |
01 |
|
succinic acidemia
|
[NCBI]
|
0.00188049
|
|
|
FSHMD1A
|
[NCBI]
|
0.000674525
|
|
|
acyl-coa dehydrogenase, medium-chain, deficiency of
|
[NCBI]
|
0.000525426
|
|
|
3-@hydroxy-3-methylglutaryl-coa synthase 2, mitochondrial, deficiency of
|
[NCBI]
|
0.000380274
|
|
|
carbamoyl phosphate synthetase i deficiency, hyperammonemia due to
|
[NCBI]
|
0.000380215
|
|
|
PBC
|
[NCBI]
|
0.000285035
|
|
|
HMGCS2
|
[NCBI]
|
0.000277459
|
|
|
ornithine transcarbamylase deficiency, hyperammonemia due to
|
[NCBI]
|
0.000262174
|
|
|
tyrosinemia, type iii
|
[NCBI]
|
0.00026179
|
|
|
hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
|
[NCBI]
|
0.000227427
|
|
|
mitochondrial dna depletion syndrome, myopathic form
|
[NCBI]
|
0.000222518
|
|
|
mitochondrial dna depletion syndrome, hepatocerebral form
|
[NCBI]
|
0.000213834
|
|
|
IVD
|
[NCBI]
|
0.000193811
|
|
|
ZS
|
[NCBI]
|
0.000191763
|
|
|
atpaf2 deficiency
|
[NCBI]
|
0.000189909
|
|
|
ACADM
|
[NCBI]
|
0.000179509
|
|
|
cerebrotendinous xanthomatosis
|
[NCBI]
|
0.000174996
|
|
|
RA
|
[NCBI]
|
0.000173963
|
|
|
mitochondrial complex i deficiency
|
[NCBI]
|
0.000167562
|
|
|
ALDH2
|
[NCBI]
|
0.000155336
|
|
|
maple syrup urine disease
|
[NCBI]
|
0.000152489
|
|
|
CPT1A
|
[NCBI]
|
0.000143659
|
|
|
PDCD8
|
[NCBI]
|
0.000141858
|
|
|
fumarase deficiency
|
[NCBI]
|
0.000135876
|
|
|
LIMM
|
[NCBI]
|
0.000135876
|
|
|
leigh syndrome, x-linked
|
[NCBI]
|
0.000126283
|
|
|
LSFC
|
[NCBI]
|
0.000126283
|
|
|
citrullinemia, type ii, neonatal-onset
|
[NCBI]
|
0.000119159
|
|
|
OTC
|
[NCBI]
|
0.000113959
|
|
|
CTLN2
|
[NCBI]
|
0.000108778
|
|
|
PC
|
[NCBI]
|
0.000104999
|
|
|
hyperlysinemia
|
[NCBI]
|
0.000104752
|
|
|
halothane hepatitis
|
[NCBI]
|
0.000104752
|
|
|
succinyl-coa:3-oxoacid coa transferase deficiency
|
[NCBI]
|
0.000101235
|
|
|
IVA
|
[NCBI]
|
0.000101235
|
|
|
GLYAT
|
[NCBI]
|
9.92335e-05
|
|
|
AGXT
|
[NCBI]
|
9.84009e-05
|
|
|
progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant, 1
|
[NCBI]
|
9.53117e-05
|
|
|
progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive
|
[NCBI]
|
9.53117e-05
|
|
|
BAK1
|
[NCBI]
|
9.33917e-05
|
|
|
ACADVL
|
[NCBI]
|
9.06057e-05
|
|
|
MTS
|
[NCBI]
|
8.82907e-05
|
|
|
MNGIE
|
[NCBI]
|
8.82907e-05
|
|
|
ALMS
|
[NCBI]
|
8.82907e-05
|
|
|
acyl-coa dehydrogenase, short-chain, deficiency of
|
[NCBI]
|
8.82907e-05
|
|
|
alpha-methylacetoacetic aciduria
|
[NCBI]
|
8.62997e-05
|
|
|
UCP3
|
[NCBI]
|
8.55204e-05
|
|
|
acyl-coa dehydrogenase, very long-chain, deficiency of
|
[NCBI]
|
8.27066e-05
|
|
|
d-bifunctional protein deficiency
|
[NCBI]
|
8.27066e-05
|
|
|
refsum disease
|
[NCBI]
|
8.10736e-05
|
|
|
carnitine palmitoyltransferase ii deficiency, late-onset
|
[NCBI]
|
7.80759e-05
|
|
|
citrullinemia, classic
|
[NCBI]
|
7.80759e-05
|
|
|
hyperoxaluria, primary, type i
|
[NCBI]
|
7.66932e-05
|
|
|
CA5A
|
[NCBI]
|
7.50212e-05
|
|
|
HADHB
|
[NCBI]
|
6.68791e-05
|
|
|
pyruvate decarboxylase deficiency
|
[NCBI]
|
6.57805e-05
|
|
|
porphyria variegata
|
[NCBI]
|
6.08992e-05
|
|
|
CDSP
|
[NCBI]
|
6.08992e-05
|
|
|
CPS1
|
[NCBI]
|
6.03688e-05
|
|
|
DBT
|
[NCBI]
|
5.69095e-05
|
|
|
adrenoleukodystrophy, autosomal neonatal form
|
[NCBI]
|
5.43839e-05
|
|
|
ALS1
|
[NCBI]
|
5.38156e-05
|
|
|
PPID
|
[NCBI]
|
5.25419e-05
|
|
|
UCP2
|
[NCBI]
|
5.21511e-05
|
|
|
EGF
|
[NCBI]
|
5.20176e-05
|
|
|
glutathione s-transferase, kappa-1
|
[NCBI]
|
4.95991e-05
|
|
|
MTFMT
|
[NCBI]
|
4.95991e-05
|
|
|
wilson disease
|
[NCBI]
|
4.92104e-05
|
|
|
FH
|
[NCBI]
|
4.86301e-05
|
|
|
ACADS
|
[NCBI]
|
4.86301e-05
|
|
|
DBI
|
[NCBI]
|
4.68843e-05
|
|
|
POLG
|
[NCBI]
|
4.65205e-05
|
|
|
LS
|
[NCBI]
|
4.49388e-05
|
|
|
PDHA1
|
[NCBI]
|
4.30689e-05
|
|
|
ECHS1
|
[NCBI]
|
3.96228e-05
|
|
|
PPM2C
|
[NCBI]
|
3.96228e-05
|
|
|
TOMM40
|
[NCBI]
|
3.96228e-05
|
|
|
CKMT1B
|
[NCBI]
|
3.58618e-05
|
|
|
SHMT1
|
[NCBI]
|
3.58618e-05
|
|
|
TSFM
|
[NCBI]
|
3.58618e-05
|
|
|
ACADL
|
[NCBI]
|
3.58618e-05
|
|
|
HMGCS1
|
[NCBI]
|
3.3422e-05
|
|
|
SARDH
|
[NCBI]
|
3.3422e-05
|
|
|
STARD13
|
[NCBI]
|
3.3422e-05
|
|
|
MIPEP
|
[NCBI]
|
3.3422e-05
|
|
|
GPAM
|
[NCBI]
|
3.3422e-05
|
|
|
SHMT2
|
[NCBI]
|
3.3422e-05
|
|
|
ASS
|
[NCBI]
|
3.2625e-05
|
|
|
KSS
|
[NCBI]
|
3.25207e-05
|
|
|
PRKAR1B
|
[NCBI]
|
3.16097e-05
|
|
|
SEPS1
|
[NCBI]
|
3.16097e-05
|
|
|
PMPCB
|
[NCBI]
|
3.16097e-05
|
|
|
SLC25A15
|
[NCBI]
|
3.16097e-05
|
|
|
PPIF
|
[NCBI]
|
3.16097e-05
|
|
|
ENDOG
|
[NCBI]
|
3.16097e-05
|
|
|
BAD
|
[NCBI]
|
3.16097e-05
|
|
|
OXCT1
|
[NCBI]
|
3.16097e-05
|
|
|
DLAT
|
[NCBI]
|
3.16097e-05
|
|
|
HNRNPK
|
[NCBI]
|
3.16097e-05
|
|
|
SLOS
|
[NCBI]
|
3.07819e-05
|
|
|
CRAT
|
[NCBI]
|
3.01669e-05
|
|
|
TXNRD2
|
[NCBI]
|
3.01669e-05
|
|
|
AADAT
|
[NCBI]
|
3.01669e-05
|
|
|
SDHB
|
[NCBI]
|
3.01669e-05
|
|
|
AK2
|
[NCBI]
|
3.01669e-05
|
|
|
SCO2
|
[NCBI]
|
2.89684e-05
|
|
|
SLC25A5
|
[NCBI]
|
2.89684e-05
|
|
|
PCK2
|
[NCBI]
|
2.89684e-05
|
|
|
SLC25A13
|
[NCBI]
|
2.89684e-05
|
|
|
SDHA
|
[NCBI]
|
2.79434e-05
|
|
|
PPP1CA
|
[NCBI]
|
2.79434e-05
|
|
|
VDAC2
|
[NCBI]
|
2.79434e-05
|
|
|
ITPA
|
[NCBI]
|
2.79434e-05
|
|
|
CYP27A1
|
[NCBI]
|
2.79434e-05
|
|
|
ACACB
|
[NCBI]
|
2.79434e-05
|
|
|
FDX1
|
[NCBI]
|
2.70481e-05
|
|
|
GSS
|
[NCBI]
|
2.70481e-05
|
|
|
BCL2L1
|
[NCBI]
|
2.70481e-05
|
|
|
WASF1
|
[NCBI]
|
2.70481e-05
|
|
|
IGFBP1
|
[NCBI]
|
2.70481e-05
|
|
|
DGAT1
|
[NCBI]
|
2.62536e-05
|
|
|
GPX4
|
[NCBI]
|
2.62536e-05
|
|
|
CPT2
|
[NCBI]
|
2.55396e-05
|
|
|
HSD17B10
|
[NCBI]
|
2.55396e-05
|
|
|
HADH
|
[NCBI]
|
2.55396e-05
|
|
|
VDAC1
|
[NCBI]
|
2.55396e-05
|
|
|
GOT2
|
[NCBI]
|
2.48913e-05
|
|
|
BID
|
[NCBI]
|
2.42978e-05
|
|
|
PPOX
|
[NCBI]
|
2.42978e-05
|
|
|
PRODH
|
[NCBI]
|
2.42978e-05
|
|
|
IDH1
|
[NCBI]
|
2.42978e-05
|
|
|
SLC25A1
|
[NCBI]
|
2.37506e-05
|
|
|
PCCA
|
[NCBI]
|
2.32431e-05
|
|
|
COMT
|
[NCBI]
|
2.29072e-05
|
|
|
PPARA
|
[NCBI]
|
2.28691e-05
|
|
|
HADHA
|
[NCBI]
|
2.277e-05
|
|
|
TP53
|
[NCBI]
|
2.23099e-05
|
|
|
GCDH
|
[NCBI]
|
2.19104e-05
|
|
|
HSD17B4
|
[NCBI]
|
2.15174e-05
|
|
|
SOD2
|
[NCBI]
|
2.14534e-05
|
|
|
SLC25A20
|
[NCBI]
|
2.11456e-05
|
|
|
SMPD1
|
[NCBI]
|
2.11456e-05
|
|
|
SLE
|
[NCBI]
|
2.08966e-05
|
|
|
EEF2
|
[NCBI]
|
2.07927e-05
|
|
|
SLC25A4
|
[NCBI]
|
2.01368e-05
|
|
|
SOD1
|
[NCBI]
|
1.93855e-05
|
|
|
GZMB
|
[NCBI]
|
1.92573e-05
|
|
|
MTATP6
|
[NCBI]
|
1.92573e-05
|
|
|
ACOX1
|
[NCBI]
|
1.89876e-05
|
|
|
coproporphyria
|
[NCBI]
|
1.87281e-05
|
|
|
protoporphyria, erythropoietic
|
[NCBI]
|
1.77794e-05
|
|
|
GNMT
|
[NCBI]
|
1.75617e-05
|
|
|
porphyria cutanea tarda
|
[NCBI]
|
1.6755e-05
|
|
|
BAX
|
[NCBI]
|
1.6755e-05
|
|
|
ADRP
|
[NCBI]
|
1.65677e-05
|
|
|
GAPDH
|
[NCBI]
|
1.56244e-05
|
|
|
GCK
|
[NCBI]
|
1.53865e-05
|
|
|
tyrosinemia, type i
|
[NCBI]
|
1.53865e-05
|
|
|
CAT
|
[NCBI]
|
1.53455e-05
|
|
|
HNF4A
|
[NCBI]
|
1.49386e-05
|
|
|
LBR
|
[NCBI]
|
1.35192e-05
|
|
|
TNF
|
[NCBI]
|
1.33841e-05
|
|
|
STC1
|
[NCBI]
|
1.21694e-05
|
|
|
TNFRSF1A
|
[NCBI]
|
1.18068e-05
|
|
|
ALD
|
[NCBI]
|
9.67613e-06
|
|
|
ACHE
|
[NCBI]
|
9.59474e-06
|
|
|
PRNP
|
[NCBI]
|
9.14977e-06
|
|
|
UCP1
|
[NCBI]
|
8.51407e-06
|
|
|
AVP
|
[NCBI]
|
7.58427e-06
|
|
|
XDH
|
[NCBI]
|
6.60452e-06
|
|
|
KCNH2
|
[NCBI]
|
6.39933e-06
|
|
|
ABP1
|
[NCBI]
|
6.07805e-06
|
|
|
PCNA
|
[NCBI]
|
5.79276e-06
|
|
|
ACE
|
[NCBI]
|
5.5501e-06
|
|
|
DHFR
|
[NCBI]
|
4.56297e-06
|
|
|
TNFSF10
|
[NCBI]
|
3.97206e-06
|
|
|
EPO
|
[NCBI]
|
3.65393e-06
|
|
|
HGF
|
[NCBI]
|
3.3815e-06
|
|
|
STAR
|
[NCBI]
|
3.11958e-06
|
|
|
TTR
|
[NCBI]
|
2.48176e-06
|
|
|
HD
|
[NCBI]
|
2.34224e-06
|
|
|
TLR4
|
[NCBI]
|
1.40171e-06
|
|
|
APOB
|
[NCBI]
|
1.37959e-06
|
|
|
CYP1A1
|
[NCBI]
|
1.14704e-06
|
|
|
ADCYAP1
|
[NCBI]
|
4.07191e-07
|
|
|
TNFSF6
|
[NCBI]
|
3.53734e-07
|
|
|
G6PD
|
[NCBI]
|
2.13986e-08
|
|
|
ADA
|
[NCBI]
|
1.7434e-10
|
|