|
OMIM |
Link |
Information gain |
01 |
|
SRS
|
[NCBI]
|
0.00293781
|
|
|
pygmy
|
[NCBI]
|
0.0012405
|
|
|
hydroxykynureninuria
|
[NCBI]
|
0.000847756
|
|
|
trichomegaly with mental retardation, dwarfism, and pigmentary degeneration of retina
|
[NCBI]
|
0.000847756
|
|
|
hypertelorism, microtia, facial clefting syndrome
|
[NCBI]
|
0.000847756
|
|
|
valinemia
|
[NCBI]
|
0.00074821
|
|
|
trichorrhexis nodosa syndrome
|
[NCBI]
|
0.000683762
|
|
|
precocious puberty
|
[NCBI]
|
0.000598019
|
|
|
acrodysostosis
|
[NCBI]
|
0.000566543
|
|
|
RA
|
[NCBI]
|
0.000373016
|
|
|
dubowitz syndrome
|
[NCBI]
|
0.000345913
|
|
|
diabetes mellitus, transient neonatal, 1
|
[NCBI]
|
0.000337775
|
|
|
CTNS
|
[NCBI]
|
0.000316698
|
|
|
growth hormone insensitivity syndrome
|
[NCBI]
|
0.000313955
|
|
|
CF
|
[NCBI]
|
0.000298111
|
|
|
PWS
|
[NCBI]
|
0.000261719
|
|
|
rowley-rosenberg syndrome
|
[NCBI]
|
0.000244301
|
|
|
IS1
|
[NCBI]
|
0.000235498
|
|
|
hypophosphatemic rickets, x-linked dominant
|
[NCBI]
|
0.000230176
|
|
|
NS1
|
[NCBI]
|
0.000177302
|
|
|
hurler syndrome
|
[NCBI]
|
0.000136785
|
|
|
pituitary dwarfism due to isolated growth hormone deficiency, autosomal dominant
|
[NCBI]
|
0.000132977
|
|
|
LPI
|
[NCBI]
|
0.00012675
|
|
|
PFIC1
|
[NCBI]
|
0.000124153
|
|
|
histidinemia
|
[NCBI]
|
0.000112837
|
|
|
spondylometaepiphyseal dysplasia, short limb-hand type
|
[NCBI]
|
9.43599e-05
|
|
|
dwarfism, levi type
|
[NCBI]
|
9.43599e-05
|
|
|
HCH
|
[NCBI]
|
9.33443e-05
|
|
|
BWS
|
[NCBI]
|
8.27953e-05
|
|
|
hyperlysinemia
|
[NCBI]
|
7.71593e-05
|
|
|
precocious puberty, male-limited
|
[NCBI]
|
7.71593e-05
|
|
|
lactase deficiency, congenital
|
[NCBI]
|
7.71593e-05
|
|
|
gonadal agenesis
|
[NCBI]
|
7.71593e-05
|
|
|
marshall-smith syndrome
|
[NCBI]
|
7.71593e-05
|
|
|
SLOS
|
[NCBI]
|
7.41046e-05
|
|
|
enterokinase deficiency
|
[NCBI]
|
7.21422e-05
|
|
|
formiminotransferase deficiency
|
[NCBI]
|
7.21422e-05
|
|
|
insulin-like growth factor i deficiency
|
[NCBI]
|
7.21422e-05
|
|
|
glycogen storage disease 0, muscle
|
[NCBI]
|
7.21422e-05
|
|
|
CHH
|
[NCBI]
|
6.99792e-05
|
|
|
thyrotropin deficiency, isolated
|
[NCBI]
|
6.81533e-05
|
|
|
menkes disease
|
[NCBI]
|
6.70466e-05
|
|
|
floating-harbor syndrome
|
[NCBI]
|
6.48437e-05
|
|
|
GHR
|
[NCBI]
|
6.48281e-05
|
|
|
SHOX
|
[NCBI]
|
6.41007e-05
|
|
|
IGFALS
|
[NCBI]
|
6.39584e-05
|
|
|
ADHR
|
[NCBI]
|
5.95511e-05
|
|
|
MAS
|
[NCBI]
|
5.81909e-05
|
|
|
sialuria
|
[NCBI]
|
5.73656e-05
|
|
|
renal tubular acidosis, distal, autosomal dominant
|
[NCBI]
|
5.73656e-05
|
|
|
IGF1
|
[NCBI]
|
5.61346e-05
|
|
|
WSS
|
[NCBI]
|
5.54039e-05
|
|
|
IFD
|
[NCBI]
|
5.54039e-05
|
|
|
OSMED
|
[NCBI]
|
5.54039e-05
|
|
|
PRL
|
[NCBI]
|
5.53518e-05
|
|
|
CDLS1
|
[NCBI]
|
5.49047e-05
|
|
|
adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency
|
[NCBI]
|
5.43176e-05
|
|
|
pycnodysostosis
|
[NCBI]
|
5.36252e-05
|
|
|
carbamoyl phosphate synthetase i deficiency, hyperammonemia due to
|
[NCBI]
|
5.36252e-05
|
|
|
corticosterone methyloxidase type ii deficiency
|
[NCBI]
|
5.36252e-05
|
|
|
cutis laxa, autosomal recessive, type ii
|
[NCBI]
|
5.19988e-05
|
|
|
adrenal hyperplasia, congenital, due to steroid 11-beta-hydroxylase deficiency
|
[NCBI]
|
5.19988e-05
|
|
|
hypercholesterolemia, autosomal dominant
|
[NCBI]
|
5.08731e-05
|
|
|
pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities
|
[NCBI]
|
5.05013e-05
|
|
|
ACH
|
[NCBI]
|
4.85528e-05
|
|
|
hartnup disorder
|
[NCBI]
|
4.78227e-05
|
|
|
GH1
|
[NCBI]
|
4.70918e-05
|
|
|
crigler-najjar syndrome
|
[NCBI]
|
4.66148e-05
|
|
|
hyperlipoproteinemia, type i
|
[NCBI]
|
4.66148e-05
|
|
|
pituitary dwarfism iii
|
[NCBI]
|
4.66148e-05
|
|
|
diarrhea 1, secretory chloride, congenital
|
[NCBI]
|
4.66148e-05
|
|
|
leopard syndrome 1
|
[NCBI]
|
4.54808e-05
|
|
|
camurati-engelmann disease
|
[NCBI]
|
4.54808e-05
|
|
|
mucopolysaccharidosis type iiib
|
[NCBI]
|
4.34025e-05
|
|
|
hyperoxaluria, primary, type i
|
[NCBI]
|
4.24455e-05
|
|
|
glycogen storage disease iii
|
[NCBI]
|
4.06704e-05
|
|
|
diastrophic dysplasia
|
[NCBI]
|
4.06704e-05
|
|
|
methylmalonic aciduria due to methylmalonyl-coa mutase deficiency
|
[NCBI]
|
4.06704e-05
|
|
|
CFNS
|
[NCBI]
|
3.90543e-05
|
|
|
SEDC
|
[NCBI]
|
3.90543e-05
|
|
|
OCRL
|
[NCBI]
|
3.90543e-05
|
|
|
CD
|
[NCBI]
|
3.88516e-05
|
|
|
diabetes insipidus, nephrogenic, x-linked
|
[NCBI]
|
3.82978e-05
|
|
|
ALMS
|
[NCBI]
|
3.82978e-05
|
|
|
phenylketonuria
|
[NCBI]
|
3.32067e-05
|
|
|
CDPX2
|
[NCBI]
|
3.26474e-05
|
|
|
CAPN5
|
[NCBI]
|
3.1058e-05
|
|
|
MC4R
|
[NCBI]
|
3.04879e-05
|
|
|
CPI
|
[NCBI]
|
3.00825e-05
|
|
|
RASGRF2
|
[NCBI]
|
2.90412e-05
|
|
|
SSTR4
|
[NCBI]
|
2.90412e-05
|
|
|
TPST1
|
[NCBI]
|
2.90412e-05
|
|
|
CRADD
|
[NCBI]
|
2.90412e-05
|
|
|
SOCS7
|
[NCBI]
|
2.90412e-05
|
|
|
STC1
|
[NCBI]
|
2.90076e-05
|
|
|
PTH
|
[NCBI]
|
2.86444e-05
|
|
|
ABL
|
[NCBI]
|
2.84094e-05
|
|
|
mucopolysaccharidosis type ii
|
[NCBI]
|
2.78252e-05
|
|
|
LWD
|
[NCBI]
|
2.75991e-05
|
|
|
SP4
|
[NCBI]
|
2.75427e-05
|
|
|
SSTR3
|
[NCBI]
|
2.75427e-05
|
|
|
TNF
|
[NCBI]
|
2.70599e-05
|
|
|
galactosemia
|
[NCBI]
|
2.68275e-05
|
|
|
obesity
|
[NCBI]
|
2.64553e-05
|
|
|
LALBA
|
[NCBI]
|
2.63495e-05
|
|
|
DHCR24
|
[NCBI]
|
2.63495e-05
|
|
|
maple syrup urine disease
|
[NCBI]
|
2.60915e-05
|
|
|
FOXJ1
|
[NCBI]
|
2.53581e-05
|
|
|
MTM1
|
[NCBI]
|
2.50481e-05
|
|
|
TFAP2C
|
[NCBI]
|
2.37691e-05
|
|
|
SSTR1
|
[NCBI]
|
2.37691e-05
|
|
|
POR
|
[NCBI]
|
2.37691e-05
|
|
|
GAS1
|
[NCBI]
|
2.31115e-05
|
|
|
ATP8B1
|
[NCBI]
|
2.31115e-05
|
|
|
GYS1
|
[NCBI]
|
2.25203e-05
|
|
|
gaucher disease, type i
|
[NCBI]
|
2.22845e-05
|
|
|
ornithine transcarbamylase deficiency, hyperammonemia due to
|
[NCBI]
|
2.20065e-05
|
|
|
PLAG1
|
[NCBI]
|
2.10385e-05
|
|
|
SKI
|
[NCBI]
|
2.10385e-05
|
|
|
FSHB
|
[NCBI]
|
2.0618e-05
|
|
|
PDC
|
[NCBI]
|
2.02258e-05
|
|
|
SOCS2
|
[NCBI]
|
2.02258e-05
|
|
|
SSTR5
|
[NCBI]
|
2.02258e-05
|
|
|
GPR24
|
[NCBI]
|
1.98585e-05
|
|
|
CYP1A2
|
[NCBI]
|
1.98585e-05
|
|
|
PEG3
|
[NCBI]
|
1.95131e-05
|
|
|
orotic aciduria i
|
[NCBI]
|
1.95131e-05
|
|
|
IL2
|
[NCBI]
|
1.90882e-05
|
|
|
SPR
|
[NCBI]
|
1.88787e-05
|
|
|
SSTR2
|
[NCBI]
|
1.83072e-05
|
|
|
BLM
|
[NCBI]
|
1.81625e-05
|
|
|
PIK3CA
|
[NCBI]
|
1.80414e-05
|
|
|
PDGFRB
|
[NCBI]
|
1.80414e-05
|
|
|
CYP11B1
|
[NCBI]
|
1.75442e-05
|
|
|
VEGF
|
[NCBI]
|
1.7073e-05
|
|
|
GSTM1
|
[NCBI]
|
1.68712e-05
|
|
|
PRSS1
|
[NCBI]
|
1.6463e-05
|
|
|
KCNJ11
|
[NCBI]
|
1.60822e-05
|
|
|
IGF1R
|
[NCBI]
|
1.5901e-05
|
|
|
fructose intolerance, hereditary
|
[NCBI]
|
1.5901e-05
|
|
|
ERCC2
|
[NCBI]
|
1.5901e-05
|
|
|
PTPN11
|
[NCBI]
|
1.5901e-05
|
|
|
NF1
|
[NCBI]
|
1.58582e-05
|
|
|
RARA
|
[NCBI]
|
1.539e-05
|
|
|
STAT5B
|
[NCBI]
|
1.52295e-05
|
|
|
krabbe disease
|
[NCBI]
|
1.51689e-05
|
|
|
glycogen storage disease i
|
[NCBI]
|
1.49216e-05
|
|
|
AGTR1
|
[NCBI]
|
1.46298e-05
|
|
|
FXYD1
|
[NCBI]
|
1.43526e-05
|
|
|
ZNF145
|
[NCBI]
|
1.38364e-05
|
|
|
tyrosinemia, type i
|
[NCBI]
|
1.38364e-05
|
|
|
TF
|
[NCBI]
|
1.37623e-05
|
|
|
VDR
|
[NCBI]
|
1.36798e-05
|
|
|
MSTN
|
[NCBI]
|
1.33645e-05
|
|
|
BBS
|
[NCBI]
|
1.19699e-05
|
|
|
GHRH
|
[NCBI]
|
1.1924e-05
|
|
|
GCCR
|
[NCBI]
|
1.16365e-05
|
|
|
GPT
|
[NCBI]
|
1.16365e-05
|
|
|
SHBG
|
[NCBI]
|
1.1533e-05
|
|
|
THRB
|
[NCBI]
|
1.11655e-05
|
|
|
SLC4A1
|
[NCBI]
|
1.10909e-05
|
|
|
ARSA
|
[NCBI]
|
1.10174e-05
|
|
|
MTTL1
|
[NCBI]
|
1.07332e-05
|
|
|
homocystinuria
|
[NCBI]
|
9.7309e-06
|
|
|
GNAS
|
[NCBI]
|
9.19191e-06
|
|
|
MAOA
|
[NCBI]
|
8.7991e-06
|
|
|
RBP1
|
[NCBI]
|
8.75213e-06
|
|
|
ESR1
|
[NCBI]
|
8.52382e-06
|
|
|
NPM1
|
[NCBI]
|
8.43541e-06
|
|
|
CCND1
|
[NCBI]
|
8.22122e-06
|
|
|
fragile x mental retardation syndrome
|
[NCBI]
|
7.61996e-06
|
|
|
UCP1
|
[NCBI]
|
7.48531e-06
|
|
|
WBS
|
[NCBI]
|
7.38231e-06
|
|
|
BGLAP
|
[NCBI]
|
7.379e-06
|
|
|
STAT5A
|
[NCBI]
|
7.27509e-06
|
|
|
PTHLH
|
[NCBI]
|
6.55141e-06
|
|
|
PMP22
|
[NCBI]
|
5.85092e-06
|
|
|
POMC
|
[NCBI]
|
5.79436e-06
|
|
|
JAK2
|
[NCBI]
|
5.33928e-06
|
|
|
GNRH1
|
[NCBI]
|
5.04074e-06
|
|
|
apnea, obstructive sleep
|
[NCBI]
|
4.99706e-06
|
|
|
APRT
|
[NCBI]
|
4.77051e-06
|
|
|
TH
|
[NCBI]
|
4.56765e-06
|
|
|
SPP1
|
[NCBI]
|
4.4817e-06
|
|
|
AMH
|
[NCBI]
|
4.32587e-06
|
|
|
INS
|
[NCBI]
|
3.45647e-06
|
|
|
PMCH
|
[NCBI]
|
3.41782e-06
|
|
|
RASA1
|
[NCBI]
|
3.2556e-06
|
|
|
RTT
|
[NCBI]
|
3.01947e-06
|
|
|
LPL
|
[NCBI]
|
2.8928e-06
|
|
|
GAL
|
[NCBI]
|
2.59445e-06
|
|
|
EPO
|
[NCBI]
|
2.38605e-06
|
|
|
PF4
|
[NCBI]
|
2.09631e-06
|
|
|
AR
|
[NCBI]
|
2.07596e-06
|
|
|
AFP
|
[NCBI]
|
1.93343e-06
|
|
|
CYP1A1
|
[NCBI]
|
1.71948e-06
|
|
|
ALB
|
[NCBI]
|
1.57247e-06
|
|
|
lymphoma, non-hodgkin, familial
|
[NCBI]
|
1.52256e-06
|
|
|
PYY
|
[NCBI]
|
1.49414e-06
|
|
|
EGF
|
[NCBI]
|
1.17718e-06
|
|
|
PCNA
|
[NCBI]
|
9.27991e-07
|
|
|
AS
|
[NCBI]
|
9.10998e-07
|
|
|
ACHE
|
[NCBI]
|
8.48561e-07
|
|
|
FRAP1
|
[NCBI]
|
7.22312e-07
|
|
|
CHAT
|
[NCBI]
|
6.88786e-07
|
|
|
CRH
|
[NCBI]
|
6.57903e-07
|
|
|
FA
|
[NCBI]
|
6.45578e-07
|
|
|
RNASE3
|
[NCBI]
|
6.22112e-07
|
|
|
NPPA
|
[NCBI]
|
3.97384e-07
|
|
|
CFTR
|
[NCBI]
|
3.81248e-07
|
|
|
CAT
|
[NCBI]
|
3.72596e-07
|
|
|
GFAP
|
[NCBI]
|
3.656e-07
|
|
|
APOB
|
[NCBI]
|
2.74164e-07
|
|
|
NGFB
|
[NCBI]
|
2.04032e-07
|
|
|
NPY
|
[NCBI]
|
1.70264e-07
|
|
|
FMF
|
[NCBI]
|
1.8588e-08
|
|