|
OMIM |
Link |
Information gain |
01 |
|
methylmalonic aciduria and homocystinuria, cbld type
|
[NCBI]
|
0.00522817
|
|
|
methionine malabsorption syndrome
|
[NCBI]
|
0.00344512
|
|
|
methionine adenosyltransferase deficiency
|
[NCBI]
|
0.00251706
|
|
|
trichohepatoenteric syndrome
|
[NCBI]
|
0.0017038
|
|
|
hypotrichosis, marie unna type
|
[NCBI]
|
0.00150728
|
|
|
valinemia
|
[NCBI]
|
0.00150728
|
|
|
MCDU
|
[NCBI]
|
0.00121061
|
|
|
folic acid, transport defect involving
|
[NCBI]
|
0.00109527
|
|
|
iminoglycinuria
|
[NCBI]
|
0.00104895
|
|
|
COMT
|
[NCBI]
|
0.00091557
|
|
|
cystathioninuria
|
[NCBI]
|
0.000751707
|
|
|
homocysteinemia
|
[NCBI]
|
0.000690635
|
|
|
homocystinuria
|
[NCBI]
|
0.000463528
|
|
|
homocystinuria-megaloblastic anemia due to defect in cobalamin metabolism, cble complementation type
|
[NCBI]
|
0.00044597
|
|
|
methylmalonic aciduria and homocystinuria, cblc type
|
[NCBI]
|
0.000420326
|
|
|
methylcobalamin deficiency, cblg type
|
[NCBI]
|
0.000401692
|
|
|
RA
|
[NCBI]
|
0.000372789
|
|
|
MTR
|
[NCBI]
|
0.00034412
|
|
|
homocystinuria due to deficiency of n(5,10)-methylenetetrahydrofolate reductase activity
|
[NCBI]
|
0.000338155
|
|
|
MAT1A
|
[NCBI]
|
0.000332604
|
|
|
CJD
|
[NCBI]
|
0.000317958
|
|
|
glycine n-methyltransferase deficiency
|
[NCBI]
|
0.00027706
|
|
|
TTR
|
[NCBI]
|
0.000276574
|
|
|
BDNF
|
[NCBI]
|
0.000267392
|
|
|
kuru, susceptibility to
|
[NCBI]
|
0.000174855
|
|
|
SLE
|
[NCBI]
|
0.000161005
|
|
|
sulfocysteinuria
|
[NCBI]
|
0.000150446
|
|
|
BHMT
|
[NCBI]
|
0.000124871
|
|
|
GCE
|
[NCBI]
|
0.000114223
|
|
|
familial mediterranean fever, autosomal dominant
|
[NCBI]
|
0.000106913
|
|
|
velocardiofacial syndrome
|
[NCBI]
|
0.000102806
|
|
|
GNMT
|
[NCBI]
|
0.000100336
|
|
|
MTRR
|
[NCBI]
|
9.60541e-05
|
|
|
heinz body anemias
|
[NCBI]
|
9.50413e-05
|
|
|
buerger disease
|
[NCBI]
|
9.50413e-05
|
|
|
IDDM5
|
[NCBI]
|
8.16445e-05
|
|
|
INSR
|
[NCBI]
|
7.91523e-05
|
|
|
HBB
|
[NCBI]
|
7.84391e-05
|
|
|
PEMT
|
[NCBI]
|
7.78485e-05
|
|
|
macular dystrophy, vitelliform, adult-onset
|
[NCBI]
|
7.71082e-05
|
|
|
charcot-marie-tooth disease, axonal, type 2j
|
[NCBI]
|
7.71082e-05
|
|
|
PRNP
|
[NCBI]
|
7.70157e-05
|
|
|
maple syrup urine disease
|
[NCBI]
|
7.48691e-05
|
|
|
CDG1C
|
[NCBI]
|
7.01303e-05
|
|
|
tyrosinemia, type i
|
[NCBI]
|
6.69538e-05
|
|
|
FFI
|
[NCBI]
|
6.2613e-05
|
|
|
formiminotransferase deficiency
|
[NCBI]
|
6.26113e-05
|
|
|
CDO
|
[NCBI]
|
5.88558e-05
|
|
|
pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities
|
[NCBI]
|
5.87401e-05
|
|
|
VEGF
|
[NCBI]
|
5.86834e-05
|
|
|
PMC
|
[NCBI]
|
5.54608e-05
|
|
|
hartnup disorder
|
[NCBI]
|
5.54608e-05
|
|
|
MTAP
|
[NCBI]
|
5.33872e-05
|
|
|
donohue syndrome
|
[NCBI]
|
5.26198e-05
|
|
|
PRL
|
[NCBI]
|
5.22696e-05
|
|
|
APOB
|
[NCBI]
|
5.10385e-05
|
|
|
glucose transport defect, blood-brain barrier
|
[NCBI]
|
5.01164e-05
|
|
|
DKC
|
[NCBI]
|
5.01164e-05
|
|
|
acyl-coa dehydrogenase, short-chain, deficiency of
|
[NCBI]
|
5.01164e-05
|
|
|
galactose epimerase deficiency
|
[NCBI]
|
4.89688e-05
|
|
|
carbamoyl phosphate synthetase i deficiency, hyperammonemia due to
|
[NCBI]
|
4.78812e-05
|
|
|
refsum disease, infantile form
|
[NCBI]
|
4.49251e-05
|
|
|
alzheimer disease 3
|
[NCBI]
|
4.15518e-05
|
|
|
andersen cardiodysrhythmic periodic paralysis
|
[NCBI]
|
4.15518e-05
|
|
|
OPTN
|
[NCBI]
|
4.06398e-05
|
|
|
mucopolysaccharidosis type vii
|
[NCBI]
|
3.93489e-05
|
|
|
methylmalonic aciduria due to methylmalonyl-coa mutase deficiency
|
[NCBI]
|
3.93489e-05
|
|
|
TNFRSF1B
|
[NCBI]
|
3.90625e-05
|
|
|
TNF
|
[NCBI]
|
3.87901e-05
|
|
|
IVA
|
[NCBI]
|
3.86659e-05
|
|
|
TD1
|
[NCBI]
|
3.86659e-05
|
|
|
VMD
|
[NCBI]
|
3.73676e-05
|
|
|
CLN3
|
[NCBI]
|
3.61506e-05
|
|
|
MSD
|
[NCBI]
|
3.44587e-05
|
|
|
citrullinemia, classic
|
[NCBI]
|
3.44587e-05
|
|
|
HBA1
|
[NCBI]
|
3.44568e-05
|
|
|
METAP2
|
[NCBI]
|
3.24321e-05
|
|
|
methionine aminopeptidase 1d
|
[NCBI]
|
3.2262e-05
|
|
|
AHCY
|
[NCBI]
|
3.17528e-05
|
|
|
CTNS
|
[NCBI]
|
3.10177e-05
|
|
|
TPM3
|
[NCBI]
|
3.05158e-05
|
|
|
EPO
|
[NCBI]
|
2.937e-05
|
|
|
lynch syndrome i
|
[NCBI]
|
2.93066e-05
|
|
|
hypertension, essential
|
[NCBI]
|
2.77449e-05
|
|
|
MPZ
|
[NCBI]
|
2.73333e-05
|
|
|
HGPS
|
[NCBI]
|
2.6311e-05
|
|
|
SCZD
|
[NCBI]
|
2.6311e-05
|
|
|
KLK3
|
[NCBI]
|
2.59199e-05
|
|
|
MPO
|
[NCBI]
|
2.56196e-05
|
|
|
JMML
|
[NCBI]
|
2.49876e-05
|
|
|
PRODH
|
[NCBI]
|
2.48583e-05
|
|
|
selenoprotein translation factor selb
|
[NCBI]
|
2.48515e-05
|
|
|
dna helicase hel308
|
[NCBI]
|
2.48515e-05
|
|
|
MAP1LC3B
|
[NCBI]
|
2.48515e-05
|
|
|
HNRPM
|
[NCBI]
|
2.48515e-05
|
|
|
TRN
|
[NCBI]
|
2.48515e-05
|
|
|
WBP4
|
[NCBI]
|
2.48515e-05
|
|
|
PSACH
|
[NCBI]
|
2.40591e-05
|
|
|
SI
|
[NCBI]
|
2.34463e-05
|
|
|
porphyria variegata
|
[NCBI]
|
2.318e-05
|
|
|
EGFR
|
[NCBI]
|
2.26241e-05
|
|
|
TRG1
|
[NCBI]
|
2.20625e-05
|
|
|
SEPX1
|
[NCBI]
|
2.20625e-05
|
|
|
MMSDH
|
[NCBI]
|
2.20625e-05
|
|
|
GOLGB1
|
[NCBI]
|
2.20625e-05
|
|
|
ACHE
|
[NCBI]
|
2.13028e-05
|
|
|
ALD
|
[NCBI]
|
2.05524e-05
|
|
|
CEACAM5
|
[NCBI]
|
2.05443e-05
|
|
|
TRNP3
|
[NCBI]
|
2.02558e-05
|
|
|
MAT2A
|
[NCBI]
|
2.02558e-05
|
|
|
EPHA3
|
[NCBI]
|
2.02558e-05
|
|
|
MSRA
|
[NCBI]
|
2.02558e-05
|
|
|
NPY
|
[NCBI]
|
2.0082e-05
|
|
|
CPI
|
[NCBI]
|
1.93918e-05
|
|
|
PON1
|
[NCBI]
|
1.9043e-05
|
|
|
CTSL
|
[NCBI]
|
1.9027e-05
|
|
|
DBF4
|
[NCBI]
|
1.89157e-05
|
|
|
SRPR
|
[NCBI]
|
1.89157e-05
|
|
|
CHI3L1
|
[NCBI]
|
1.89157e-05
|
|
|
PSEN1
|
[NCBI]
|
1.81894e-05
|
|
|
TUBAL1
|
[NCBI]
|
1.78504e-05
|
|
|
PLK2
|
[NCBI]
|
1.78504e-05
|
|
|
NMBR
|
[NCBI]
|
1.69667e-05
|
|
|
THBS2
|
[NCBI]
|
1.69667e-05
|
|
|
LNPEP
|
[NCBI]
|
1.69667e-05
|
|
|
SUMO4
|
[NCBI]
|
1.69667e-05
|
|
|
DNMT1
|
[NCBI]
|
1.69388e-05
|
|
|
DGS
|
[NCBI]
|
1.6925e-05
|
|
|
PTH
|
[NCBI]
|
1.67465e-05
|
|
|
PHKB
|
[NCBI]
|
1.62121e-05
|
|
|
S100A7
|
[NCBI]
|
1.62121e-05
|
|
|
SLC27A4
|
[NCBI]
|
1.62121e-05
|
|
|
GSTZ1
|
[NCBI]
|
1.55539e-05
|
|
|
MTHFR
|
[NCBI]
|
1.47526e-05
|
|
|
SECISBP2
|
[NCBI]
|
1.44472e-05
|
|
|
IQGAP1
|
[NCBI]
|
1.44472e-05
|
|
|
CHAT
|
[NCBI]
|
1.44073e-05
|
|
|
NEDD9
|
[NCBI]
|
1.39727e-05
|
|
|
MAP3K8
|
[NCBI]
|
1.35389e-05
|
|
|
PRPH
|
[NCBI]
|
1.31395e-05
|
|
|
ITGA2
|
[NCBI]
|
1.24253e-05
|
|
|
ENAM
|
[NCBI]
|
1.24253e-05
|
|
|
ACY1
|
[NCBI]
|
1.24253e-05
|
|
|
PIK3R1
|
[NCBI]
|
1.21034e-05
|
|
|
MGMT
|
[NCBI]
|
1.21034e-05
|
|
|
FST
|
[NCBI]
|
1.21034e-05
|
|
|
GAPDH
|
[NCBI]
|
1.20815e-05
|
|
|
FPGS
|
[NCBI]
|
1.20654e-05
|
|
|
MAOA
|
[NCBI]
|
1.18236e-05
|
|
|
GLDC
|
[NCBI]
|
1.18012e-05
|
|
|
GALE
|
[NCBI]
|
1.18012e-05
|
|
|
CCL18
|
[NCBI]
|
1.15165e-05
|
|
|
KEL
|
[NCBI]
|
1.15165e-05
|
|
|
DHFR
|
[NCBI]
|
1.14766e-05
|
|
|
SLC2A1
|
[NCBI]
|
1.09925e-05
|
|
|
RP
|
[NCBI]
|
1.09639e-05
|
|
|
LPL
|
[NCBI]
|
1.0793e-05
|
|
|
CHS
|
[NCBI]
|
1.04055e-05
|
|
|
von willebrand disease
|
[NCBI]
|
1.03788e-05
|
|
|
SPTB
|
[NCBI]
|
9.50993e-06
|
|
|
KRT14
|
[NCBI]
|
9.50993e-06
|
|
|
NCOA2
|
[NCBI]
|
8.99429e-06
|
|
|
LDLR
|
[NCBI]
|
8.97561e-06
|
|
|
GP1BA
|
[NCBI]
|
8.83448e-06
|
|
|
SLBP
|
[NCBI]
|
8.83448e-06
|
|
|
RASA1
|
[NCBI]
|
8.58073e-06
|
|
|
MTTK
|
[NCBI]
|
8.38616e-06
|
|
|
ADH5
|
[NCBI]
|
8.2461e-06
|
|
|
SAA1
|
[NCBI]
|
8.2461e-06
|
|
|
PRPH2
|
[NCBI]
|
8.2461e-06
|
|
|
GFAP
|
[NCBI]
|
8.24494e-06
|
|
|
FMF
|
[NCBI]
|
8.16956e-06
|
|
|
FANCC
|
[NCBI]
|
8.11029e-06
|
|
|
TYRP1
|
[NCBI]
|
8.11029e-06
|
|
|
RAG1
|
[NCBI]
|
8.11029e-06
|
|
|
glycogen storage disease ixa
|
[NCBI]
|
7.9785e-06
|
|
|
GRPR
|
[NCBI]
|
7.9785e-06
|
|
|
GHRL
|
[NCBI]
|
7.9785e-06
|
|
|
PROS1
|
[NCBI]
|
7.60523e-06
|
|
|
GAA
|
[NCBI]
|
7.48757e-06
|
|
|
APP
|
[NCBI]
|
7.45333e-06
|
|
|
SCN4A
|
[NCBI]
|
7.37301e-06
|
|
|
complement component 2 deficiency
|
[NCBI]
|
7.37301e-06
|
|
|
PMP22
|
[NCBI]
|
7.28313e-06
|
|
|
FGG
|
[NCBI]
|
7.26142e-06
|
|
|
SLOS
|
[NCBI]
|
7.2161e-06
|
|
|
PEPD
|
[NCBI]
|
7.15267e-06
|
|
|
SLC16A1
|
[NCBI]
|
7.04662e-06
|
|
|
ACADS
|
[NCBI]
|
7.04662e-06
|
|
|
MTATP6
|
[NCBI]
|
6.94315e-06
|
|
|
transcobalamin ii deficiency
|
[NCBI]
|
6.84217e-06
|
|
|
AMACR
|
[NCBI]
|
6.74356e-06
|
|
|
DCC
|
[NCBI]
|
6.64722e-06
|
|
|
HS
|
[NCBI]
|
6.46102e-06
|
|
|
ABCA1
|
[NCBI]
|
6.46102e-06
|
|
|
MAP1B
|
[NCBI]
|
6.46102e-06
|
|
|
AKT1
|
[NCBI]
|
6.46102e-06
|
|
|
AGT
|
[NCBI]
|
6.46102e-06
|
|
|
DSTN
|
[NCBI]
|
6.371e-06
|
|
|
LBR
|
[NCBI]
|
5.79144e-06
|
|
|
OTC
|
[NCBI]
|
5.79144e-06
|
|
|
ADA
|
[NCBI]
|
5.58856e-06
|
|
|
F2
|
[NCBI]
|
5.5669e-06
|
|
|
SPP1
|
[NCBI]
|
5.52105e-06
|
|
|
CEL
|
[NCBI]
|
5.49486e-06
|
|
|
MBP
|
[NCBI]
|
5.43983e-06
|
|
|
BTC
|
[NCBI]
|
5.28653e-06
|
|
|
FGFR3
|
[NCBI]
|
5.04357e-06
|
|
|
MODY
|
[NCBI]
|
4.9777e-06
|
|
|
ASL
|
[NCBI]
|
4.96311e-06
|
|
|
HBD
|
[NCBI]
|
4.90169e-06
|
|
|
PARK2
|
[NCBI]
|
4.84129e-06
|
|
|
protein c deficiency, congenital thrombotic disease due to
|
[NCBI]
|
4.84129e-06
|
|
|
REG3A
|
[NCBI]
|
4.66594e-06
|
|
|
VCP
|
[NCBI]
|
4.49883e-06
|
|
|
VIP
|
[NCBI]
|
4.29911e-06
|
|
|
SRY
|
[NCBI]
|
4.18695e-06
|
|
|
HBG1
|
[NCBI]
|
4.13765e-06
|
|
|
GPT
|
[NCBI]
|
3.99395e-06
|
|
|
TYR
|
[NCBI]
|
3.39713e-06
|
|
|
CPE
|
[NCBI]
|
3.283e-06
|
|
|
SRC
|
[NCBI]
|
3.24591e-06
|
|
|
MC1R
|
[NCBI]
|
3.17312e-06
|
|
|
NSF
|
[NCBI]
|
3.17312e-06
|
|
|
APOE
|
[NCBI]
|
3.0971e-06
|
|
|
PKD1
|
[NCBI]
|
3.06727e-06
|
|
|
GUSB
|
[NCBI]
|
3.03284e-06
|
|
|
PD
|
[NCBI]
|
3.00123e-06
|
|
|
LRP1
|
[NCBI]
|
2.9904e-06
|
|
|
TF
|
[NCBI]
|
2.92135e-06
|
|
|
CRC
|
[NCBI]
|
2.87382e-06
|
|
|
NPM1
|
[NCBI]
|
2.74086e-06
|
|
|
apc gene
|
[NCBI]
|
2.50578e-06
|
|
|
PG
|
[NCBI]
|
2.31671e-06
|
|
|
OMP
|
[NCBI]
|
2.19025e-06
|
|
|
TBP
|
[NCBI]
|
2.16576e-06
|
|
|
CFTR
|
[NCBI]
|
2.13363e-06
|
|
|
RB1
|
[NCBI]
|
2.11757e-06
|
|
|
HBA2
|
[NCBI]
|
2.07039e-06
|
|
|
SLC6A3
|
[NCBI]
|
2.02411e-06
|
|
|
RBP1
|
[NCBI]
|
1.93465e-06
|
|
|
XDH
|
[NCBI]
|
1.89385e-06
|
|
|
SLPI
|
[NCBI]
|
1.84874e-06
|
|
|
TG
|
[NCBI]
|
1.81023e-06
|
|
|
HMBS
|
[NCBI]
|
1.70662e-06
|
|
|
CF
|
[NCBI]
|
1.70333e-06
|
|
|
FGFR2
|
[NCBI]
|
1.66783e-06
|
|
|
AGER
|
[NCBI]
|
1.5026e-06
|
|
|
ACADM
|
[NCBI]
|
1.38391e-06
|
|
|
GJB2
|
[NCBI]
|
1.22788e-06
|
|
|
AR
|
[NCBI]
|
1.208e-06
|
|
|
FRAP1
|
[NCBI]
|
1.1951e-06
|
|
|
NF1
|
[NCBI]
|
1.14131e-06
|
|
|
NGFB
|
[NCBI]
|
1.01626e-06
|
|
|
FMR1
|
[NCBI]
|
9.21693e-07
|
|
|
TFPI
|
[NCBI]
|
8.24138e-07
|
|
|
GRP
|
[NCBI]
|
8.19288e-07
|
|
|
PEDF
|
[NCBI]
|
7.87102e-07
|
|
|
NPPA
|
[NCBI]
|
5.4951e-07
|
|
|
COMP
|
[NCBI]
|
5.44758e-07
|
|
|
PLG
|
[NCBI]
|
5.12792e-07
|
|
|
EGF
|
[NCBI]
|
5.0045e-07
|
|
|
CYP1A1
|
[NCBI]
|
4.09088e-07
|
|
|
CCK
|
[NCBI]
|
3.76848e-07
|
|
|
PCNA
|
[NCBI]
|
3.70506e-07
|
|
|
SHBG
|
[NCBI]
|
3.54675e-07
|
|
|
GHR
|
[NCBI]
|
3.23152e-07
|
|
|
APRT
|
[NCBI]
|
3.11707e-07
|
|
|
PPARA
|
[NCBI]
|
2.84041e-07
|
|
|
F3
|
[NCBI]
|
2.51292e-07
|
|
|
SERPINA6
|
[NCBI]
|
2.48367e-07
|
|
|
AFP
|
[NCBI]
|
2.31591e-07
|
|
|
TNFSF10
|
[NCBI]
|
2.06549e-07
|
|
|
FA
|
[NCBI]
|
1.91511e-07
|
|
|
PI
|
[NCBI]
|
1.65425e-07
|
|
|
CAT
|
[NCBI]
|
1.59015e-07
|
|
|
FGF7
|
[NCBI]
|
1.50927e-07
|
|
|
STAR
|
[NCBI]
|
5.68422e-08
|
|
|
HGF
|
[NCBI]
|
4.63408e-08
|
|
|
HD
|
[NCBI]
|
4.49934e-08
|
|
|
LCAT
|
[NCBI]
|
4.34579e-08
|
|
|
TYMS
|
[NCBI]
|
4.3431e-08
|
|
|
BCHE
|
[NCBI]
|
4.32319e-08
|
|
|
POMC
|
[NCBI]
|
1.71899e-08
|
|
|
AD
|
[NCBI]
|
1.66865e-08
|
|
|
PTHLH
|
[NCBI]
|
1.13857e-08
|
|
|
CP
|
[NCBI]
|
1.21855e-10
|
|