|
OMIM |
Link |
Information gain |
01 |
|
SRS
|
[NCBI]
|
0.0254023
|
|
|
NLS
|
[NCBI]
|
0.00447078
|
|
|
dubowitz syndrome
|
[NCBI]
|
0.00397244
|
|
|
BWCNS
|
[NCBI]
|
0.00160819
|
|
|
progeroid syndrome, neonatal
|
[NCBI]
|
0.00104665
|
|
|
microcephalic osteodysplastic primordial dwarfism, type i
|
[NCBI]
|
0.000912013
|
|
|
pena-shokeir syndrome, type i
|
[NCBI]
|
0.000864186
|
|
|
microcephalic osteodysplastic primordial dwarfism, type ii
|
[NCBI]
|
0.00058802
|
|
|
natural killer cell deficiency, familial isolated
|
[NCBI]
|
0.000493498
|
|
|
HHS
|
[NCBI]
|
0.000488807
|
|
|
HRD
|
[NCBI]
|
0.000311804
|
|
|
gracile syndrome
|
[NCBI]
|
0.000311804
|
|
|
microcephalic osteodysplastic primordial dwarfism, type iii
|
[NCBI]
|
0.000293316
|
|
|
pygmy
|
[NCBI]
|
0.000293316
|
|
|
lethal congenital contracture syndrome 1
|
[NCBI]
|
0.000293316
|
|
|
intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies
|
[NCBI]
|
0.000284758
|
|
|
tight skin contracture syndrome, lethal
|
[NCBI]
|
0.000278461
|
|
|
hypoadrenocorticism, familial
|
[NCBI]
|
0.000268713
|
|
|
PEE1
|
[NCBI]
|
0.00024398
|
|
|
TFPI2
|
[NCBI]
|
0.000234565
|
|
|
AOS
|
[NCBI]
|
0.000231273
|
|
|
GO
|
[NCBI]
|
0.000229919
|
|
|
RA
|
[NCBI]
|
0.000228197
|
|
|
ear, patella, short stature syndrome
|
[NCBI]
|
0.000214138
|
|
|
craniomicromelic syndrome
|
[NCBI]
|
0.000213998
|
|
|
cutis laxa, autosomal recessive, type ii
|
[NCBI]
|
0.000196315
|
|
|
CUL7
|
[NCBI]
|
0.000192598
|
|
|
gastrointestinal abnormalities, multiple
|
[NCBI]
|
0.000183065
|
|
|
AFP
|
[NCBI]
|
0.00018087
|
|
|
branchial clefts with characteristic facies, growth retardation, imperforate nasolacrimal duct, and premature aging
|
[NCBI]
|
0.000165754
|
|
|
WHS
|
[NCBI]
|
0.000164408
|
|
|
GCS1
|
[NCBI]
|
0.000159514
|
|
|
marden-walker syndrome
|
[NCBI]
|
0.000131841
|
|
|
KCS
|
[NCBI]
|
0.000129648
|
|
|
IGFBP1
|
[NCBI]
|
0.000128355
|
|
|
ESX1L
|
[NCBI]
|
0.000128355
|
|
|
three m syndrome
|
[NCBI]
|
0.000123764
|
|
|
pitt syndrome
|
[NCBI]
|
0.000116582
|
|
|
IGF1R
|
[NCBI]
|
0.000114065
|
|
|
EGF
|
[NCBI]
|
0.000112611
|
|
|
seckel syndrome 1
|
[NCBI]
|
0.000112562
|
|
|
VEGF
|
[NCBI]
|
0.000110595
|
|
|
DKC1
|
[NCBI]
|
0.000108821
|
|
|
lambotte syndrome
|
[NCBI]
|
0.000106932
|
|
|
camptodactyly syndrome, guadalajara type ii
|
[NCBI]
|
0.000106932
|
|
|
finger locking, recurrent, with intrauterine growth retardation and proportionate short stature
|
[NCBI]
|
0.000106932
|
|
|
chondrodysplasia-pseudohermaphroditism syndrome
|
[NCBI]
|
0.000106932
|
|
|
partington-anderson syndrome
|
[NCBI]
|
0.000106932
|
|
|
hydrocephalus with associated malformations
|
[NCBI]
|
0.000106932
|
|
|
CDLS1
|
[NCBI]
|
9.75051e-05
|
|
|
diabetes mellitus, insulin-dependent, 2
|
[NCBI]
|
9.10171e-05
|
|
|
dk phocomelia syndrome
|
[NCBI]
|
8.44817e-05
|
|
|
atpaf2 deficiency
|
[NCBI]
|
8.44817e-05
|
|
|
pelvic hypoplasia with lower-limb arthrogryposis
|
[NCBI]
|
8.44817e-05
|
|
|
revesz syndrome
|
[NCBI]
|
8.44817e-05
|
|
|
intrauterine growth retardation with increased mitomycin c sensitivity
|
[NCBI]
|
8.44817e-05
|
|
|
thymic-renal-anal-lung dysplasia
|
[NCBI]
|
8.44817e-05
|
|
|
renal dysplasia-limb defects syndrome
|
[NCBI]
|
8.44817e-05
|
|
|
acrofacial dysostosis, catania type
|
[NCBI]
|
8.44817e-05
|
|
|
holoprosencephaly with fetal akinesia/hypokinesia sequence
|
[NCBI]
|
8.44817e-05
|
|
|
coffin-siris syndrome
|
[NCBI]
|
8.21333e-05
|
|
|
JBTS1
|
[NCBI]
|
8.21333e-05
|
|
|
brachymorphism-onychodysplasia-dysphalangism syndrome
|
[NCBI]
|
7.60216e-05
|
|
|
lissencephaly type iii and bone dysplasia
|
[NCBI]
|
7.60216e-05
|
|
|
PCD
|
[NCBI]
|
7.41488e-05
|
|
|
insulin-like growth factor i deficiency
|
[NCBI]
|
7.05353e-05
|
|
|
microcephaly with chemotactic defect and transient hypogammaglobulinemia
|
[NCBI]
|
7.05353e-05
|
|
|
roifman syndrome
|
[NCBI]
|
7.05353e-05
|
|
|
HPE5
|
[NCBI]
|
7.05353e-05
|
|
|
anal atresia, hypospadias, and penoscrotal inversion
|
[NCBI]
|
7.05353e-05
|
|
|
FRNS
|
[NCBI]
|
7.04546e-05
|
|
|
SLOS
|
[NCBI]
|
6.85386e-05
|
|
|
insulin-like growth factor i, resistance to
|
[NCBI]
|
6.64614e-05
|
|
|
ROCK2
|
[NCBI]
|
6.41558e-05
|
|
|
ADM2
|
[NCBI]
|
6.41558e-05
|
|
|
CDC14B
|
[NCBI]
|
6.41558e-05
|
|
|
PCSK4
|
[NCBI]
|
6.41558e-05
|
|
|
PEX11B
|
[NCBI]
|
6.41558e-05
|
|
|
CPA5
|
[NCBI]
|
6.41558e-05
|
|
|
UBP1
|
[NCBI]
|
6.41558e-05
|
|
|
RBX1
|
[NCBI]
|
6.41558e-05
|
|
|
FBXW8
|
[NCBI]
|
6.41558e-05
|
|
|
LGALS13
|
[NCBI]
|
6.41558e-05
|
|
|
EHBA
|
[NCBI]
|
6.0527e-05
|
|
|
GRTH
|
[NCBI]
|
5.82253e-05
|
|
|
vacterl association with hydrocephalus
|
[NCBI]
|
5.82253e-05
|
|
|
short syndrome
|
[NCBI]
|
5.82253e-05
|
|
|
pancreatic agenesis, congenital
|
[NCBI]
|
5.82253e-05
|
|
|
microcephaly with spastic quadriplegia
|
[NCBI]
|
5.82253e-05
|
|
|
floating-harbor syndrome
|
[NCBI]
|
5.44329e-05
|
|
|
growth-mental deficiency syndrome of myhre
|
[NCBI]
|
5.44329e-05
|
|
|
IGF1
|
[NCBI]
|
5.38364e-05
|
|
|
BWS
|
[NCBI]
|
5.32488e-05
|
|
|
MCOPS9
|
[NCBI]
|
5.28312e-05
|
|
|
pseudotrisomy 13 syndrome
|
[NCBI]
|
5.28312e-05
|
|
|
ZS
|
[NCBI]
|
5.1688e-05
|
|
|
IGF2BP3
|
[NCBI]
|
5.03907e-05
|
|
|
E2F4
|
[NCBI]
|
5.03907e-05
|
|
|
MNT
|
[NCBI]
|
5.03907e-05
|
|
|
KPNA2
|
[NCBI]
|
5.03907e-05
|
|
|
SLC2A8
|
[NCBI]
|
5.03907e-05
|
|
|
MGAT1
|
[NCBI]
|
5.03907e-05
|
|
|
HPE3
|
[NCBI]
|
4.76841e-05
|
|
|
alpers diffuse degeneration of cerebral gray matter with hepatic cirrhosis
|
[NCBI]
|
4.56329e-05
|
|
|
synovitis, granulomatous, with uveitis and cranial neuropathies
|
[NCBI]
|
4.56329e-05
|
|
|
SKP1A
|
[NCBI]
|
4.52049e-05
|
|
|
PEX5
|
[NCBI]
|
4.52049e-05
|
|
|
STRA6
|
[NCBI]
|
4.52049e-05
|
|
|
propionic acidemia
|
[NCBI]
|
4.22015e-05
|
|
|
CSH1
|
[NCBI]
|
4.18427e-05
|
|
|
CPA4
|
[NCBI]
|
4.18427e-05
|
|
|
GLMN
|
[NCBI]
|
4.18427e-05
|
|
|
ATOX1
|
[NCBI]
|
4.18427e-05
|
|
|
TFAM
|
[NCBI]
|
4.18427e-05
|
|
|
SPCH1
|
[NCBI]
|
4.14514e-05
|
|
|
TNF
|
[NCBI]
|
4.06754e-05
|
|
|
INS
|
[NCBI]
|
3.97566e-05
|
|
|
cortisol 11-beta-ketoreductase deficiency
|
[NCBI]
|
3.94082e-05
|
|
|
IGFBP5
|
[NCBI]
|
3.93466e-05
|
|
|
NCOA6
|
[NCBI]
|
3.93466e-05
|
|
|
donohue syndrome
|
[NCBI]
|
3.81717e-05
|
|
|
mitochondrial complex i deficiency
|
[NCBI]
|
3.75932e-05
|
|
|
PZP
|
[NCBI]
|
3.73606e-05
|
|
|
PEG10
|
[NCBI]
|
3.73606e-05
|
|
|
LRP8
|
[NCBI]
|
3.73606e-05
|
|
|
factor v deficiency
|
[NCBI]
|
3.73213e-05
|
|
|
GRB10
|
[NCBI]
|
3.57117e-05
|
|
|
MADD
|
[NCBI]
|
3.54798e-05
|
|
|
AHC
|
[NCBI]
|
3.54798e-05
|
|
|
gm1-gangliosidosis, type i
|
[NCBI]
|
3.49952e-05
|
|
|
immunodeficiency-centromeric instability-facial anomalies syndrome
|
[NCBI]
|
3.4526e-05
|
|
|
IGFBP3
|
[NCBI]
|
3.43023e-05
|
|
|
BCS1L
|
[NCBI]
|
3.43023e-05
|
|
|
PAPPA
|
[NCBI]
|
3.43023e-05
|
|
|
MEST
|
[NCBI]
|
3.43023e-05
|
|
|
glycogen storage disease iii
|
[NCBI]
|
3.40712e-05
|
|
|
MDLS
|
[NCBI]
|
3.363e-05
|
|
|
nijmegen breakage syndrome
|
[NCBI]
|
3.363e-05
|
|
|
mitochondrial complex iv deficiency
|
[NCBI]
|
3.363e-05
|
|
|
DYRK1A
|
[NCBI]
|
3.30721e-05
|
|
|
DKC
|
[NCBI]
|
3.19874e-05
|
|
|
urogenital adysplasia, hereditary
|
[NCBI]
|
3.17647e-05
|
|
|
walker-warburg syndrome
|
[NCBI]
|
3.16042e-05
|
|
|
INSR
|
[NCBI]
|
3.13464e-05
|
|
|
SLC6A6
|
[NCBI]
|
3.10008e-05
|
|
|
FDH
|
[NCBI]
|
3.01655e-05
|
|
|
FOXP2
|
[NCBI]
|
3.01115e-05
|
|
|
CRHR1
|
[NCBI]
|
3.01115e-05
|
|
|
ACOX1
|
[NCBI]
|
3.01115e-05
|
|
|
CMTC
|
[NCBI]
|
2.98273e-05
|
|
|
ANXA5
|
[NCBI]
|
2.8548e-05
|
|
|
SLC16A2
|
[NCBI]
|
2.8548e-05
|
|
|
HADHA
|
[NCBI]
|
2.7853e-05
|
|
|
LEP
|
[NCBI]
|
2.76274e-05
|
|
|
costello syndrome
|
[NCBI]
|
2.73781e-05
|
|
|
STC1
|
[NCBI]
|
2.65993e-05
|
|
|
maple syrup urine disease
|
[NCBI]
|
2.45897e-05
|
|
|
SLC25A4
|
[NCBI]
|
2.40456e-05
|
|
|
PTX3
|
[NCBI]
|
2.40456e-05
|
|
|
BLM
|
[NCBI]
|
2.22798e-05
|
|
|
LPI
|
[NCBI]
|
2.20886e-05
|
|
|
IGF2
|
[NCBI]
|
2.10256e-05
|
|
|
AVSD
|
[NCBI]
|
2.06529e-05
|
|
|
PAEP
|
[NCBI]
|
2.04048e-05
|
|
|
PRLR
|
[NCBI]
|
1.90183e-05
|
|
|
SLC11A2
|
[NCBI]
|
1.90183e-05
|
|
|
CAT
|
[NCBI]
|
1.90086e-05
|
|
|
FANCA
|
[NCBI]
|
1.85192e-05
|
|
|
HDAC1
|
[NCBI]
|
1.828e-05
|
|
|
PCNA
|
[NCBI]
|
1.74879e-05
|
|
|
factor vii deficiency
|
[NCBI]
|
1.61929e-05
|
|
|
NOS3
|
[NCBI]
|
1.61929e-05
|
|
|
GH1
|
[NCBI]
|
1.51493e-05
|
|
|
MTR
|
[NCBI]
|
1.37961e-05
|
|
|
IL10
|
[NCBI]
|
1.37961e-05
|
|
|
SRF
|
[NCBI]
|
1.25196e-05
|
|
|
STAR
|
[NCBI]
|
1.17364e-05
|
|
|
HGF
|
[NCBI]
|
1.07036e-05
|
|
|
FA
|
[NCBI]
|
1.0595e-05
|
|
|
COMT
|
[NCBI]
|
1.03969e-05
|
|
|
SERPINA6
|
[NCBI]
|
9.78577e-06
|
|
|
CDK2
|
[NCBI]
|
9.62495e-06
|
|
|
APOE
|
[NCBI]
|
9.60051e-06
|
|
|
KDR
|
[NCBI]
|
9.54592e-06
|
|
|
DNMT1
|
[NCBI]
|
9.46778e-06
|
|
|
GAL
|
[NCBI]
|
9.01679e-06
|
|
|
LPL
|
[NCBI]
|
8.96654e-06
|
|
|
GHR
|
[NCBI]
|
8.39251e-06
|
|
|
CD
|
[NCBI]
|
7.73806e-06
|
|
|
PXE
|
[NCBI]
|
7.65956e-06
|
|
|
PWS
|
[NCBI]
|
7.47885e-06
|
|
|
PLG
|
[NCBI]
|
7.02893e-06
|
|
|
PTHLH
|
[NCBI]
|
6.38154e-06
|
|
|
ADM
|
[NCBI]
|
6.3287e-06
|
|
|
F3
|
[NCBI]
|
4.84077e-06
|
|
|
adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency
|
[NCBI]
|
4.64927e-06
|
|
|
hla-d histocompatibility type
|
[NCBI]
|
4.25926e-06
|
|
|
MPO
|
[NCBI]
|
4.13641e-06
|
|
|
phenylketonuria
|
[NCBI]
|
3.90101e-06
|
|
|
MBL2
|
[NCBI]
|
3.49288e-06
|
|
|
PRL
|
[NCBI]
|
3.1502e-06
|
|
|
EPO
|
[NCBI]
|
2.59435e-06
|
|
|
ACHE
|
[NCBI]
|
2.02603e-06
|
|
|
SLC6A3
|
[NCBI]
|
1.86528e-06
|
|
|
EGFR
|
[NCBI]
|
1.79335e-06
|
|
|
SHH
|
[NCBI]
|
1.74551e-06
|
|
|
G6PD
|
[NCBI]
|
1.21978e-06
|
|
|
ALB
|
[NCBI]
|
1.17433e-06
|
|
|
SOD2
|
[NCBI]
|
1.14182e-06
|
|
|
TF
|
[NCBI]
|
1.13112e-06
|
|
|
SLE
|
[NCBI]
|
1.08364e-06
|
|
|
CRH
|
[NCBI]
|
1.03497e-06
|
|
|
FRAP1
|
[NCBI]
|
9.98273e-07
|
|
|
TFPI
|
[NCBI]
|
9.03634e-07
|
|
|
NGFB
|
[NCBI]
|
5.80564e-07
|
|
|
NPY
|
[NCBI]
|
4.65172e-07
|
|
|
BDNF
|
[NCBI]
|
1.07204e-07
|
|
|
SPP1
|
[NCBI]
|
4.46715e-09
|
|
|
SHBG
|
[NCBI]
|
1.74182e-09
|
|
|
TH
|
[NCBI]
|
1.12962e-09
|
|
|
CHAT
|
[NCBI]
|
3.84338e-11
|
|