|
OMIM |
Link |
Information gain |
01 |
|
HHF2
|
[NCBI]
|
0.0034941
|
|
|
HHF7
|
[NCBI]
|
0.00319617
|
|
|
HHF1
|
[NCBI]
|
0.00215795
|
|
|
SRS
|
[NCBI]
|
0.00152761
|
|
|
histidinuria due to a renal tubular defect
|
[NCBI]
|
0.000697531
|
|
|
AVP
|
[NCBI]
|
0.00067171
|
|
|
ABCC8
|
[NCBI]
|
0.000646529
|
|
|
pygmy
|
[NCBI]
|
0.000626524
|
|
|
fatty metamorphosis of viscera
|
[NCBI]
|
0.000578037
|
|
|
acyl-coa dehydrogenase, medium-chain, deficiency of
|
[NCBI]
|
0.000562491
|
|
|
long-chain 3-hydroxyacyl-coa dehydrogenase deficiency
|
[NCBI]
|
0.000393195
|
|
|
HHF6
|
[NCBI]
|
0.000393114
|
|
|
coffin-siris syndrome
|
[NCBI]
|
0.000383064
|
|
|
fructose-1,6-bisphosphatase deficiency
|
[NCBI]
|
0.000373418
|
|
|
BWS
|
[NCBI]
|
0.000350671
|
|
|
glycogen storage disease 0, liver
|
[NCBI]
|
0.000326672
|
|
|
CRH
|
[NCBI]
|
0.000310869
|
|
|
acth deficiency
|
[NCBI]
|
0.000304003
|
|
|
LIH
|
[NCBI]
|
0.000302914
|
|
|
RA
|
[NCBI]
|
0.000291186
|
|
|
SPS
|
[NCBI]
|
0.000289175
|
|
|
HHF4
|
[NCBI]
|
0.000266482
|
|
|
HMGCS2
|
[NCBI]
|
0.000248541
|
|
|
3-@hydroxy-3-methylglutaryl-coa lyase deficiency
|
[NCBI]
|
0.000248418
|
|
|
PRL
|
[NCBI]
|
0.00023244
|
|
|
acyl-coa dehydrogenase, long-chain, deficiency of
|
[NCBI]
|
0.000225548
|
|
|
SLE
|
[NCBI]
|
0.000218161
|
|
|
carnitine palmitoyltransferase i deficiency
|
[NCBI]
|
0.000217278
|
|
|
MADD
|
[NCBI]
|
0.000209508
|
|
|
3-@hydroxy-3-methylglutaryl-coa synthase 2, mitochondrial, deficiency of
|
[NCBI]
|
0.00020185
|
|
|
GHRH
|
[NCBI]
|
0.000189212
|
|
|
IGFALS
|
[NCBI]
|
0.000162582
|
|
|
HHF3
|
[NCBI]
|
0.000156969
|
|
|
glycogen storage disease i
|
[NCBI]
|
0.000141583
|
|
|
GCK
|
[NCBI]
|
0.000125647
|
|
|
CDG1B
|
[NCBI]
|
0.000120987
|
|
|
succinyl-coa:3-oxoacid coa transferase deficiency
|
[NCBI]
|
0.000120987
|
|
|
GLUD1
|
[NCBI]
|
0.000114253
|
|
|
HADHA
|
[NCBI]
|
0.000111967
|
|
|
acyl-coa dehydrogenase, very long-chain, deficiency of
|
[NCBI]
|
0.000102511
|
|
|
HHF5
|
[NCBI]
|
0.000100879
|
|
|
pituitary dwarfism with small sella turcica
|
[NCBI]
|
0.000100879
|
|
|
septooptic dysplasia
|
[NCBI]
|
0.000100575
|
|
|
GYS2
|
[NCBI]
|
9.66766e-05
|
|
|
KCNJ11
|
[NCBI]
|
9.31856e-05
|
|
|
AAA
|
[NCBI]
|
9.09574e-05
|
|
|
PCK2
|
[NCBI]
|
9.08063e-05
|
|
|
ACADM
|
[NCBI]
|
8.79483e-05
|
|
|
MODY
|
[NCBI]
|
8.78717e-05
|
|
|
HADH
|
[NCBI]
|
8.63121e-05
|
|
|
CPT1A
|
[NCBI]
|
8.63121e-05
|
|
|
MKKS
|
[NCBI]
|
8.25622e-05
|
|
|
proprotein convertase 1 deficiency
|
[NCBI]
|
7.84385e-05
|
|
|
growth hormone insensitivity syndrome
|
[NCBI]
|
7.59842e-05
|
|
|
PC
|
[NCBI]
|
7.2708e-05
|
|
|
GIP
|
[NCBI]
|
6.96527e-05
|
|
|
TH
|
[NCBI]
|
6.48124e-05
|
|
|
optic nerve hypoplasia, bilateral
|
[NCBI]
|
6.45122e-05
|
|
|
carnitine palmitoyltransferase ii deficiency, infantile
|
[NCBI]
|
6.45122e-05
|
|
|
NPY
|
[NCBI]
|
6.30741e-05
|
|
|
UQCRB
|
[NCBI]
|
6.20822e-05
|
|
|
CDG1D
|
[NCBI]
|
6.04484e-05
|
|
|
POMC
|
[NCBI]
|
6.00485e-05
|
|
|
VEGF
|
[NCBI]
|
5.83972e-05
|
|
|
mitochondrial complex iii deficiency
|
[NCBI]
|
5.72164e-05
|
|
|
SOCS1
|
[NCBI]
|
5.70548e-05
|
|
|
INS
|
[NCBI]
|
5.59416e-05
|
|
|
carnitine palmitoyltransferase ii deficiency, lethal neonatal
|
[NCBI]
|
5.22424e-05
|
|
|
lactic acidosis, fatal infantile
|
[NCBI]
|
5.22424e-05
|
|
|
HCRT
|
[NCBI]
|
5.1694e-05
|
|
|
IGF2
|
[NCBI]
|
5.1694e-05
|
|
|
CF
|
[NCBI]
|
5.16881e-05
|
|
|
HCRTR1
|
[NCBI]
|
4.83207e-05
|
|
|
GPD1
|
[NCBI]
|
4.83207e-05
|
|
|
growth hormone insensitivity with immunodeficiency
|
[NCBI]
|
4.68784e-05
|
|
|
thyrotropin deficiency, isolated
|
[NCBI]
|
4.54347e-05
|
|
|
GCCD1
|
[NCBI]
|
4.54347e-05
|
|
|
pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities
|
[NCBI]
|
4.54347e-05
|
|
|
3-@methylcrotonyl-coa carboxylase 1 deficiency
|
[NCBI]
|
4.41144e-05
|
|
|
INPPL1
|
[NCBI]
|
4.31385e-05
|
|
|
pituitary dwarfism due to isolated growth hormone deficiency, autosomal dominant
|
[NCBI]
|
4.28983e-05
|
|
|
pituitary dwarfism iii
|
[NCBI]
|
4.0722e-05
|
|
|
GPD2
|
[NCBI]
|
3.978e-05
|
|
|
SGNE1
|
[NCBI]
|
3.978e-05
|
|
|
FOXA2
|
[NCBI]
|
3.978e-05
|
|
|
PPY
|
[NCBI]
|
3.978e-05
|
|
|
glucose transport defect, blood-brain barrier
|
[NCBI]
|
3.97403e-05
|
|
|
JBS
|
[NCBI]
|
3.79493e-05
|
|
|
ALG3
|
[NCBI]
|
3.72875e-05
|
|
|
SCYE1
|
[NCBI]
|
3.72875e-05
|
|
|
OXCT1
|
[NCBI]
|
3.72875e-05
|
|
|
EIF2S1
|
[NCBI]
|
3.53052e-05
|
|
|
CEBPB
|
[NCBI]
|
3.53052e-05
|
|
|
EGF
|
[NCBI]
|
3.51027e-05
|
|
|
HSS
|
[NCBI]
|
3.4231e-05
|
|
|
PIK3R1
|
[NCBI]
|
3.22542e-05
|
|
|
PCSK1
|
[NCBI]
|
3.22542e-05
|
|
|
AQP7
|
[NCBI]
|
3.22542e-05
|
|
|
AAAS
|
[NCBI]
|
3.10276e-05
|
|
|
glycogen storage disease ib
|
[NCBI]
|
3.0737e-05
|
|
|
HCRTR2
|
[NCBI]
|
2.89636e-05
|
|
|
CDSP
|
[NCBI]
|
2.8804e-05
|
|
|
glycogen storage disease iii
|
[NCBI]
|
2.83593e-05
|
|
|
PFIC1
|
[NCBI]
|
2.83593e-05
|
|
|
glycogen storage disease v
|
[NCBI]
|
2.79281e-05
|
|
|
INSR
|
[NCBI]
|
2.75693e-05
|
|
|
CPT2
|
[NCBI]
|
2.72678e-05
|
|
|
ACADVL
|
[NCBI]
|
2.65217e-05
|
|
|
KCNQ1OT1
|
[NCBI]
|
2.58303e-05
|
|
|
PCNA
|
[NCBI]
|
2.50888e-05
|
|
|
pyruvate decarboxylase deficiency
|
[NCBI]
|
2.48903e-05
|
|
|
KL
|
[NCBI]
|
2.45839e-05
|
|
|
SLC25A20
|
[NCBI]
|
2.45839e-05
|
|
|
IPF1
|
[NCBI]
|
2.45839e-05
|
|
|
SLC16A1
|
[NCBI]
|
2.40181e-05
|
|
|
EIF4E
|
[NCBI]
|
2.40181e-05
|
|
|
CDKN1C
|
[NCBI]
|
2.34848e-05
|
|
|
NOS2A
|
[NCBI]
|
2.34848e-05
|
|
|
CDG1A
|
[NCBI]
|
2.3287e-05
|
|
|
BDNF
|
[NCBI]
|
2.20938e-05
|
|
|
H19
|
[NCBI]
|
2.16157e-05
|
|
|
ACADS
|
[NCBI]
|
2.12026e-05
|
|
|
PMM2
|
[NCBI]
|
2.08075e-05
|
|
|
AFP
|
[NCBI]
|
2.03477e-05
|
|
|
IAPP
|
[NCBI]
|
1.90444e-05
|
|
|
TNF
|
[NCBI]
|
1.86567e-05
|
|
|
LQT1
|
[NCBI]
|
1.81293e-05
|
|
|
HMGB1
|
[NCBI]
|
1.68262e-05
|
|
|
fructose intolerance, hereditary
|
[NCBI]
|
1.68262e-05
|
|
|
REG3A
|
[NCBI]
|
1.32758e-05
|
|
|
GH1
|
[NCBI]
|
1.32758e-05
|
|
|
IDE
|
[NCBI]
|
1.2661e-05
|
|
|
NGFB
|
[NCBI]
|
1.14874e-05
|
|
|
PPARA
|
[NCBI]
|
1.13706e-05
|
|
|
ASS
|
[NCBI]
|
1.13095e-05
|
|
|
PNMT
|
[NCBI]
|
1.1066e-05
|
|
|
UCP1
|
[NCBI]
|
1.1066e-05
|
|
|
ZS
|
[NCBI]
|
1.09494e-05
|
|
|
LEPR
|
[NCBI]
|
1.08303e-05
|
|
|
PTH
|
[NCBI]
|
9.97095e-06
|
|
|
CNTF
|
[NCBI]
|
9.04639e-06
|
|
|
HGF
|
[NCBI]
|
8.82446e-06
|
|
|
EPO
|
[NCBI]
|
8.2502e-06
|
|
|
APC
|
[NCBI]
|
7.80186e-06
|
|
|
GAL
|
[NCBI]
|
7.35065e-06
|
|
|
GFAP
|
[NCBI]
|
7.32461e-06
|
|
|
KCNH2
|
[NCBI]
|
7.08046e-06
|
|
|
HDC
|
[NCBI]
|
6.45465e-06
|
|
|
ADCYAP1
|
[NCBI]
|
6.10969e-06
|
|
|
PDCD8
|
[NCBI]
|
5.52902e-06
|
|
|
LPL
|
[NCBI]
|
4.82778e-06
|
|
|
GJA1
|
[NCBI]
|
4.45458e-06
|
|
|
SLOS
|
[NCBI]
|
4.26634e-06
|
|
|
PTHLH
|
[NCBI]
|
4.05854e-06
|
|
|
CCK
|
[NCBI]
|
3.67093e-06
|
|
|
PYY
|
[NCBI]
|
3.39549e-06
|
|
|
FMF
|
[NCBI]
|
3.10387e-06
|
|
|
G6PD
|
[NCBI]
|
2.79178e-06
|
|
|
VIP
|
[NCBI]
|
2.33212e-06
|
|
|
PWS
|
[NCBI]
|
2.18068e-06
|
|
|
CHAT
|
[NCBI]
|
2.03823e-06
|
|
|
NPPA
|
[NCBI]
|
1.68798e-06
|
|
|
GIST
|
[NCBI]
|
1.51647e-06
|
|
|
NF1
|
[NCBI]
|
8.99361e-07
|
|
|
ACHE
|
[NCBI]
|
5.40874e-07
|
|
|
TTR
|
[NCBI]
|
7.65833e-08
|
|