|
OMIM |
Link |
Information gain |
01 |
|
iminoglycinuria
|
[NCBI]
|
0.00491087
|
|
|
folic acid, transport defect involving
|
[NCBI]
|
0.00398241
|
|
|
histidinuria due to a renal tubular defect
|
[NCBI]
|
0.00233224
|
|
|
dibasicaminoaciduria i
|
[NCBI]
|
0.00233224
|
|
|
nephrolithiasis, calcium oxalate
|
[NCBI]
|
0.00153308
|
|
|
CF
|
[NCBI]
|
0.00122168
|
|
|
diarrhea 3, secretory sodium, congenital
|
[NCBI]
|
0.000895719
|
|
|
PTH
|
[NCBI]
|
0.000799793
|
|
|
microcephaly, hiatus hernia, and nephrotic syndrome
|
[NCBI]
|
0.000645473
|
|
|
diarrhea 2, with microvillous atrophy
|
[NCBI]
|
0.00061387
|
|
|
megaloblastic anemia 1
|
[NCBI]
|
0.000579597
|
|
|
CMRD
|
[NCBI]
|
0.000411195
|
|
|
IFD
|
[NCBI]
|
0.000343479
|
|
|
CD
|
[NCBI]
|
0.00033423
|
|
|
sitosterolemia
|
[NCBI]
|
0.000320264
|
|
|
anderson disease
|
[NCBI]
|
0.000298204
|
|
|
HCA2
|
[NCBI]
|
0.000282345
|
|
|
SLE
|
[NCBI]
|
0.000274342
|
|
|
SLC11A2
|
[NCBI]
|
0.000261851
|
|
|
LPI
|
[NCBI]
|
0.000260937
|
|
|
glycinuria with or without oxalate urolithiasis
|
[NCBI]
|
0.000243566
|
|
|
vitamin d-dependent rickets, type i
|
[NCBI]
|
0.000215695
|
|
|
diarrhea 1, secretory chloride, congenital
|
[NCBI]
|
0.000207452
|
|
|
PYY
|
[NCBI]
|
0.000191234
|
|
|
RA
|
[NCBI]
|
0.000167717
|
|
|
VDR
|
[NCBI]
|
0.000164882
|
|
|
ABP1
|
[NCBI]
|
0.000161509
|
|
|
lactase persistence
|
[NCBI]
|
0.000158477
|
|
|
aceruloplasminemia
|
[NCBI]
|
0.00015371
|
|
|
HEPH
|
[NCBI]
|
0.000133774
|
|
|
GIP
|
[NCBI]
|
0.000132841
|
|
|
hartnup disorder
|
[NCBI]
|
0.00012343
|
|
|
VED
|
[NCBI]
|
0.00012343
|
|
|
coumarin resistance
|
[NCBI]
|
0.00012343
|
|
|
hyperlysinuria with hyperammonemia
|
[NCBI]
|
0.000121722
|
|
|
blue diaper syndrome
|
[NCBI]
|
0.000121722
|
|
|
lysine malabsorption syndrome
|
[NCBI]
|
0.000121722
|
|
|
diarrhea, glucose-stimulated secretory, with common variable immunodeficiency
|
[NCBI]
|
0.000121722
|
|
|
biotinidase deficiency
|
[NCBI]
|
0.000106651
|
|
|
hypercalcemia, idiopathic, of infancy
|
[NCBI]
|
9.39942e-05
|
|
|
vitamin d-dependent rickets, type ii
|
[NCBI]
|
9.03688e-05
|
|
|
hypophosphatemic rickets, x-linked dominant
|
[NCBI]
|
8.62145e-05
|
|
|
SLC10A2
|
[NCBI]
|
8.41878e-05
|
|
|
SLC40A1
|
[NCBI]
|
8.19568e-05
|
|
|
methane production
|
[NCBI]
|
7.67953e-05
|
|
|
lactase deficiency, congenital
|
[NCBI]
|
7.67953e-05
|
|
|
proprotein convertase 1 deficiency
|
[NCBI]
|
7.67953e-05
|
|
|
VIP
|
[NCBI]
|
7.42991e-05
|
|
|
enterokinase deficiency
|
[NCBI]
|
7.17791e-05
|
|
|
menkes disease
|
[NCBI]
|
6.63658e-05
|
|
|
CYBRD1
|
[NCBI]
|
6.57189e-05
|
|
|
VEGF
|
[NCBI]
|
6.42998e-05
|
|
|
CUBN
|
[NCBI]
|
6.36694e-05
|
|
|
CRIP1
|
[NCBI]
|
6.20234e-05
|
|
|
NPC1L1
|
[NCBI]
|
6.05934e-05
|
|
|
GGM
|
[NCBI]
|
5.91913e-05
|
|
|
iron overload in africa
|
[NCBI]
|
5.91913e-05
|
|
|
ADHR
|
[NCBI]
|
5.91913e-05
|
|
|
GBD1
|
[NCBI]
|
5.70066e-05
|
|
|
ABCC2
|
[NCBI]
|
5.58729e-05
|
|
|
transcobalamin ii deficiency
|
[NCBI]
|
5.21246e-05
|
|
|
AEZ
|
[NCBI]
|
5.16424e-05
|
|
|
TNF
|
[NCBI]
|
5.09373e-05
|
|
|
TFR2
|
[NCBI]
|
5.08448e-05
|
|
|
ABCG5
|
[NCBI]
|
5.03607e-05
|
|
|
ABCG8
|
[NCBI]
|
4.87714e-05
|
|
|
CSID
|
[NCBI]
|
4.74687e-05
|
|
|
SPG2
|
[NCBI]
|
4.62617e-05
|
|
|
CEL
|
[NCBI]
|
4.52859e-05
|
|
|
SLC2A2
|
[NCBI]
|
4.52859e-05
|
|
|
CCK
|
[NCBI]
|
4.4273e-05
|
|
|
porphyria, congenital erythropoietic
|
[NCBI]
|
4.30519e-05
|
|
|
MSS
|
[NCBI]
|
4.30519e-05
|
|
|
myopathy, myofibrillar, desmin-related
|
[NCBI]
|
3.94969e-05
|
|
|
OCRL
|
[NCBI]
|
3.87079e-05
|
|
|
EPO
|
[NCBI]
|
3.57927e-05
|
|
|
HHC1
|
[NCBI]
|
3.52165e-05
|
|
|
cystinuria
|
[NCBI]
|
3.39941e-05
|
|
|
SAR1A
|
[NCBI]
|
3.02888e-05
|
|
|
CDSP
|
[NCBI]
|
2.93727e-05
|
|
|
ABL
|
[NCBI]
|
2.80789e-05
|
|
|
PRL
|
[NCBI]
|
2.74506e-05
|
|
|
SAR1B
|
[NCBI]
|
2.71849e-05
|
|
|
HFE
|
[NCBI]
|
2.55e-05
|
|
|
SLC23A1
|
[NCBI]
|
2.24896e-05
|
|
|
SLC9A3
|
[NCBI]
|
2.24896e-05
|
|
|
RAB8A
|
[NCBI]
|
2.24896e-05
|
|
|
SLC46A1
|
[NCBI]
|
2.24896e-05
|
|
|
lipase, congenital absence of pancreatic
|
[NCBI]
|
2.24896e-05
|
|
|
EGFR
|
[NCBI]
|
2.2156e-05
|
|
|
TRPV6
|
[NCBI]
|
2.15025e-05
|
|
|
LCT
|
[NCBI]
|
2.09393e-05
|
|
|
FCGRT
|
[NCBI]
|
2.06589e-05
|
|
|
RXRG
|
[NCBI]
|
2.06589e-05
|
|
|
SLC39A4
|
[NCBI]
|
2.06589e-05
|
|
|
SIL1
|
[NCBI]
|
2.06589e-05
|
|
|
NR1H2
|
[NCBI]
|
2.06589e-05
|
|
|
TF
|
[NCBI]
|
1.96985e-05
|
|
|
SLC5A6
|
[NCBI]
|
1.92692e-05
|
|
|
RXRB
|
[NCBI]
|
1.92692e-05
|
|
|
GUCA2B
|
[NCBI]
|
1.86824e-05
|
|
|
AMN
|
[NCBI]
|
1.86824e-05
|
|
|
CYP7A1
|
[NCBI]
|
1.81499e-05
|
|
|
DGAT1
|
[NCBI]
|
1.81499e-05
|
|
|
CGD
|
[NCBI]
|
1.78613e-05
|
|
|
EGF
|
[NCBI]
|
1.77127e-05
|
|
|
CFTR
|
[NCBI]
|
1.76951e-05
|
|
|
NR1H3
|
[NCBI]
|
1.76627e-05
|
|
|
CP
|
[NCBI]
|
1.72225e-05
|
|
|
SLC22A1
|
[NCBI]
|
1.67976e-05
|
|
|
APOB
|
[NCBI]
|
1.66846e-05
|
|
|
CCKAR
|
[NCBI]
|
1.64099e-05
|
|
|
PCSK1
|
[NCBI]
|
1.60469e-05
|
|
|
RXRA
|
[NCBI]
|
1.45176e-05
|
|
|
NGFB
|
[NCBI]
|
1.44852e-05
|
|
|
FRDA
|
[NCBI]
|
1.3326e-05
|
|
|
LYZ
|
[NCBI]
|
1.33192e-05
|
|
|
IP
|
[NCBI]
|
1.30383e-05
|
|
|
adenylyl cyclase, soluble
|
[NCBI]
|
1.29046e-05
|
|
|
ABCC1
|
[NCBI]
|
1.27339e-05
|
|
|
NR1H4
|
[NCBI]
|
1.23366e-05
|
|
|
SST
|
[NCBI]
|
1.22445e-05
|
|
|
CEACAM5
|
[NCBI]
|
1.16198e-05
|
|
|
CXCR4
|
[NCBI]
|
1.15059e-05
|
|
|
PHEX
|
[NCBI]
|
1.13542e-05
|
|
|
wolman disease
|
[NCBI]
|
1.10634e-05
|
|
|
NOD2
|
[NCBI]
|
1.09238e-05
|
|
|
DES
|
[NCBI]
|
1.07878e-05
|
|
|
SLC16A1
|
[NCBI]
|
1.06553e-05
|
|
|
SCP2
|
[NCBI]
|
1.06553e-05
|
|
|
FOLH1
|
[NCBI]
|
1.05261e-05
|
|
|
ABCA1
|
[NCBI]
|
9.92458e-06
|
|
|
TFRC
|
[NCBI]
|
9.0895e-06
|
|
|
PXE
|
[NCBI]
|
9.05271e-06
|
|
|
ACHE
|
[NCBI]
|
8.74059e-06
|
|
|
CD36
|
[NCBI]
|
8.13192e-06
|
|
|
MPO
|
[NCBI]
|
7.29823e-06
|
|
|
COMT
|
[NCBI]
|
7.16263e-06
|
|
|
SLOS
|
[NCBI]
|
7.15149e-06
|
|
|
MTR
|
[NCBI]
|
7.07545e-06
|
|
|
HRG
|
[NCBI]
|
7.07545e-06
|
|
|
STC1
|
[NCBI]
|
7.01293e-06
|
|
|
ABCB11
|
[NCBI]
|
6.06618e-06
|
|
|
SI
|
[NCBI]
|
5.63838e-06
|
|
|
LPO
|
[NCBI]
|
5.09004e-06
|
|
|
CJD
|
[NCBI]
|
4.94099e-06
|
|
|
SPINK1
|
[NCBI]
|
4.93553e-06
|
|
|
CHAT
|
[NCBI]
|
4.15361e-06
|
|
|
ABCB1
|
[NCBI]
|
4.06171e-06
|
|
|
PLTP
|
[NCBI]
|
3.69414e-06
|
|
|
AVP
|
[NCBI]
|
3.58807e-06
|
|
|
NPY
|
[NCBI]
|
3.55802e-06
|
|
|
ADA
|
[NCBI]
|
3.26982e-06
|
|
|
LPL
|
[NCBI]
|
3.02504e-06
|
|
|
RTT
|
[NCBI]
|
2.85493e-06
|
|
|
DHFR
|
[NCBI]
|
2.21751e-06
|
|
|
HDC
|
[NCBI]
|
1.70819e-06
|
|
|
G6PD
|
[NCBI]
|
1.63732e-06
|
|
|
NR1I2
|
[NCBI]
|
1.45906e-06
|
|
|
BCHE
|
[NCBI]
|
1.2601e-06
|
|
|
INS
|
[NCBI]
|
1.04851e-06
|
|
|
LCAT
|
[NCBI]
|
1.02306e-06
|
|
|
LDLR
|
[NCBI]
|
1.01468e-06
|
|
|
PPARA
|
[NCBI]
|
5.00586e-07
|
|
|
APOE
|
[NCBI]
|
3.73082e-07
|
|
|
GNRH1
|
[NCBI]
|
2.25174e-07
|
|
|
GAPDH
|
[NCBI]
|
1.92207e-07
|
|
|
HGF
|
[NCBI]
|
1.54139e-07
|
|
|
CYP1A1
|
[NCBI]
|
1.30769e-07
|
|
|
XDH
|
[NCBI]
|
2.78412e-08
|
|
|
TFPI
|
[NCBI]
|
2.06118e-08
|
|
|
ACP5
|
[NCBI]
|
1.82581e-08
|
|
|
ADCYAP1
|
[NCBI]
|
2.41764e-09
|
|